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MINProp vs CIPHER DN

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MINProp vs CIPHER DN Powered By Docstoc
					                    MINProp     Random Walk
Mean_ROC             0.805199249 0.733472896
Std_ROC              0.287894199 0.295988671

Phenotype             ROC            ROC
ACHONDROPLASIA; ACH 0.999775734 0.999000375
                        0.999215071 0.967512183
NEUROFIBROMATOSIS, TYPE II; NF2
                        0.998318009
SAETHRE-CHOTZEN SYNDROME; SCS 0.983881045
                        0.997420946
ACROKERATOSIS VERRUCIFORMIS; AKV 0.988129451
                         0.42823503 0.359865051
SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CEL
                        0.997757345     OF ERYTHROCYTES
ADENOSINE TRIPHOSPHATE, ELEVATED,0.998500562
ADULT SYNDROME          0.999887867 0.997750843
                        SENSORINEURAL DEAFNESS
ALBINISM, OCULAR, WITH 0.999831782 0.996563789
TIETZ SYNDROME          0.999215071 0.993128436
                        0.982112818 0.956771614
GLUCOCORTICOID-REMEDIABLE ALDOSTERONISM; GRA
                        0.999775734
ALTERNATING HEMIPLEGIA OF CHILDHOOD              1
ALZHEIMER DISEASE; AD 0.951889649 0.921341997
ALZHEIMER DISEASE 2     0.925880242 0.903036361
                                   IB; 0.999125328
AMELOGENESIS IMPERFECTA, TYPE 1 AI1B
AMYLOIDOSIS V           0.851087688 0.852430339
AMYLOIDOSIS VI          0.799843014 0.826190179
                        0.904777927 0.898329793
AMYLOIDOSIS, FAMILIAL VISCERAL
AMYLOIDOSIS VII         0.834604171 0.818942896
                        0.746944039 0.725103086
AMYOTROPHIC LATERAL SCLEROSIS 1; ALS1
                        0.484413546 0.468199425
DIAMOND-BLACKFAN ANEMIA; DBA
                        0
ANGELMAN SYNDROME; AS.820062801 0.805323004
                        0.800740076 0.731100837
ANGIOEDEMA, HEREDITARY; HAE
                        0.999663602 0.997001125
ANKYLOBLEPHARON-ECTODERMAL DEFECTS-CLEFT LIP/PALATE
                        0.999887867
TOOTH AGENESIS, SELECTIVE, 1; STHAG1             1
                        0.977909845 0.995251781
ANTITHROMBIN III DEFICIENCY
                        0.971181879 0.967262277
TOWNES-BROCKS SYNDROME; TBS
                        0.729872169
ARTHROGRYPOSIS, DISTAL, TYPE 1; DA10.779082844
STICKLER SYNDROME, TYPE I; STL1 1 0.999875047
ATRIAL STANDSTILL       0.999551469 0.999750094
                        0.997645212 0.992628686
ATRIAL SEPTAL DEFECT WITH ATRIOVENTRICULAR CONDUCTION DEFECTS
                           0.9934963
BASAL CELL NEVUS SYNDROME; BCNS 0.983131326
BLADDER CANCER          0.996560491     0.95481426
                         0.99876654              1
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS; BPES
                        0.997869477 0.995876546
BRACHYDACTYLY, TYPE A1; BDA1
                        0.927113703 0.896288892
BRACHYDACTYLY, TYPE A2; BDA2
                        0.991253644 0.974759465
BRACHYDACTYLY, TYPE B1; BDB1
                        0.999887867 0.999750094
BRACHYDACTYLY, TYPE C; BDC
                        0.935460357
BRANCHIOOTORENAL SYNDROME 1; BOR1       0.92565288
                        BRCA1
BREAST CANCER 1 GENE; 0.983740749 0.926277646
                        0.998149602 0.998625687
BULLOUS ERYTHRODERMA ICHTHYOSIFORMIS CONGENITA OF BROCQ
                                   1
PROGRESSIVE FAMILIAL HEART BLOCK, TYPE IA; PFHB1A1
CAMPOMELIC DYSPLASIA 0.602040816 0.546045233
BREAST CANCER           0.947229078 0.911344328
COLORECTAL CANCER; CRC  0.998429965 0.997001125
HEPATOCELLULAR CARCINOMA0.647583268 0.613582407
                        0.909442638
CARDIOFACIOCUTANEOUS SYNDROME 0.933774834
                        0.992262839 0.993127577
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 3; CMH3
                       0.914330567 0.898912908
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 4; CMH4
                       0.894496785
CARDIOMYOPATHY, DILATED, 1A; CMD1A0.866258486
                       0.879793676 0.831313258
CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1; RCM1
                       0.819690514  0.73122579
CATARACT, ZONULAR PULVERULENT 1; CZP1
                       0.275622337 0.251530676
CEREBRAL CAVERNOUS MALFORMATIONS; CCM
                       0.719331689 0.596776209
LEUKOCYTE ADHESION DEFICIENCY, TYPE I; LAD
                       0.993159901
CENTRAL CORE DISEASE OF MUSCLE 0.951143321
                       0.158107199 0.166937398
SPINOCEREBELLAR ATAXIA, 16q22-LINKED
                       0.998990805 0.998375609
DEMENTIA, FAMILIAL DANISH; FDD
SOTOS SYNDROME         0.997645212 0.992502811
                       0.999607491 0.999937531
CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1B; CMT1B
                       0.999887867           1
CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1A; CMT1A
                       0.999887867
CHARCOT-MARIE-TOOTH DISEASE AND DEAFNESS 1
CHERUBISM              0.504709576 0.416343871
                       0.965911639 0.971514243
ALAGILLE SYNDROME 1; ALGS1
                       0.771249159 0.758215669
CHOREA, BENIGN HEREDITARY; BHC
                       0.809934963 0.776861569
CLEIDOCRANIAL DYSPLASIA; CCD
                       0.999439336 0.999125328
FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 1; FCAS1
COLOBOMA, OCULAR       0.998430141 0.995001874
PAPILLORENAL SYNDROME 0.8552366 0.881544421
LYNCH SYNDROME I       0.996860283 0.983756091
                       0.821821036 0.812695239
COMPLEMENT COMPONENT 4, PARTIAL DEFICIENCY OF
                       0.966023772 0.912668666
COMPLEMENT COMPONENT 5; C5
                       0.932608208 0.906784956
COMPLEMENT COMPONENT 8 DEFICIENCY, TYPE I
                       0.967257233 0.909533925
COMPLEMENT COMPONENT 8 DEFICIENCY, TYPE II
                       0.983067952 0.972010496
CONE-ROD DYSTROPHY 2; CORD2
                       0.891904014 0.880809595
CONTRACTURAL ARACHNODACTYLY, CONGENITAL
                       0.997757345
EPILEPSY, BENIGN NEONATAL, 1; EBN1 0.985630389
                       0.937878448
EPILEPSY, BENIGN NEONATAL, 2; EBN2 0.912032988
CORNEAL FLECK DYSTROPHY0.098228302 0.105085593
                                 1
GROENOUW TYPE I CORNEAL DYSTROPHY; CDGG11
                       0.999887867           1
CORNEAL DYSTROPHY, POSTERIOR POLYMORPHOUS, 1; PPCD1
                                 1
CORNEAL DYSTROPHY, LATTICE TYPE I; CDL1      1
                       0.998654407 0.996001499
CRANIOFACIAL-DEAFNESS-HAND SYNDROME; CDHS
                       0.999887867 SERUM
CREATINE PHOSPHOKINASE, ELEVATED 0.997875797
CREUTZFELDT-JAKOB DISEASE; CJD 1 0.999875047
CROUZON SYNDROME       0.999887867 0.998875562
                       DOMINANT
CUTIS LAXA, AUTOSOMAL 0.981722359 0.990378608
                       0.996523884 0.985630389
DARIER-WHITE DISEASE; DAR
                                 1 0.999750094
DEAFNESS, CONGENITAL, WITH KERATOPACHYDERMIA AND CONSTRICTIONS OF FINGERS AND TOES
                       0.637250505 0.699862552
DEAFNESS, AUTOSOMAL DOMINANT NONSYNDROMIC SENSORINEURAL 1; DFNA1
                       0.842117067 0.841454273
CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPAT
                       0.999551469 0.949775112
DENTATORUBRAL-PALLIDOLUYSIAN ATROPHY; DRPLA
                       0.838865216 0.862551543
DIABETES INSIPIDUS, NEUROHYPOPHYSEAL TYPE
                       0.037900875
DIABETES INSIPIDUS, NEPHROGENIC, AUTOSOMAL 0
                       0.839914741 0.829388979
DIABETES MELLITUS, NONINSULIN-DEPENDENT; NIDDM
                       0.919040144 0.897663376
DOYNE HONEYCOMB RETINAL DYSTROPHY; DHRD
                       0.998878672 0.998875422
LERI-WEILL DYSCHONDROSTEOSIS; LWD
                       0.238057861 0.191303261
DYSCHROMATOSIS SYMMETRICA HEREDITARIA 1
                       0.999551469 0.997750843
DEMENTIA, LEWY BODY; DLB
                       0.764184795 0.805447957
DYSTONIA 1, TORSION, AUTOSOMAL DOMINANT; DYT1
                       0.974209464 0.952017993
DYSTONIA, DOPA-RESPONSIVE; DRD
DYSTONIA 12; DYT12     0.719892353 0.624187906
                        3; ED3
ECTODERMAL DYSPLASIA 0.999775734 0.998750469
                        2, HIDROTIC; 0.996251406
ECTODERMAL DYSPLASIA 0.997869477 ED2
                       0.999887867 0.996126937
ECTOPIA LENTIS, ISOLATED
                       0.996523105 0.994668666
EHLERS-DANLOS SYNDROME, TYPE I
                       0.987103286
EHLERS-DANLOS SYNDROME, TYPE II 0.989817591
                       0.995066158
EHLERS-DANLOS SYNDROME, TYPE III 0.961264526
                       0.996523884    0.96101462
EHLERS-DANLOS SYNDROME, TYPE IV, AUTOSOMAL DOMINANT
                         0.99915891 0.996438835
EHLERS-DANLOS SYNDROME, TYPE VII, AUTOSOMAL DOMINANT
                       0.996747785
ELLIPTOCYTOSIS, RHESUS-UNLINKED TYPE  0.98031988
                       0.844286195 0.850118705
BECKWITH-WIEDEMANN SYNDROME; BWS
                       0.998430141 0.970011246
MULTIPLE ENDOCRINE NEOPLASIA, TYPE I; MEN1
                       0.848172236 0.807697114
CAMURATI-ENGELMANN DISEASE
                                  1            1
TRANSIENT BULLOUS DERMOLYSIS OF THE NEWBORN; TBDN
                                  1
EPIDERMOLYSIS BULLOSA DYSTROPHICA, PASINI TYPE 1
                       0.999775709 0.999750094
EPIDERMOLYSIS BULLOSA HERPETIFORMIS, DOWLING-MEARA TYPE
                       0.999887855 0.999937523
EPIDERMOLYSIS BULLOSA OF HANDS AND FEET
EPIDERMOLYSIS BULLOSA, PRETIBIAL  1            1
                       0.999887855 0.999937523
EPIDERMOLYSIS BULLOSA SIMPLEX, KOEBNER TYPE; EBS2
                       0.998878672 0.985005623
EPIDERMOLYSIS BULLOSA SIMPLEX, OGNA TYPE
                       0.999663602 0.999625141
EPIDERMOLYSIS BULLOSA SIMPLEX WITH MOTTLED PIGMENTATION; EBS-MP
                                  1            1
EPIDERMOLYSIS BULLOSA WITH CONGENITAL LOCALIZED ABSENCE OF SKIN AND DEFORMITY OF NAILS
                         0.99876654 0.995876546
EPIPHYSEAL DYSPLASIA, MULTIPLE, 1; EDM1
                       0.999663602 0.997875797
EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH MYOPIA AND CONDUCTIVE DEAFNESS
PILOMATRIXOMA          0.942251626    0.91015869
                       0.660686253 0.698488067
CYLINDROMATOSIS, FAMILIAL; CYLD
                       0.802758466 0.721104586
ERYTHROCYTOSIS, FAMILIAL, 1
                        VARIABILIS; 0.950893415
ERYTHROKERATODERMIA0.899753308 EKV
                       0.997533079 0.959265276
ESOPHAGEAL CANCER ESOPHAGEAL SQUAMOUS CELL CARCINOMA, INCLUDED; ESCC, INCLUDED
                       0.645767908 1; EWSR1
EWING SARCOMA BREAKPOINT REGION 0.662126702
                       0.999775734
EXOSTOSES, MULTIPLE, TYPE I                    1
                       0.999215071 0.995877061
EXOSTOSES, MULTIPLE, TYPE II
                       0.745037569 0.750780957
EXUDATIVE VITREORETINOPATHY 1; EVR1
FACTOR VIII DEFICIENCY 0.999439336 0.980757216
                       0.997869477 0.989878795
FAMILIAL MEDITERRANEAN FEVER, AUTOSOMAL DOMINANT
                       0.858039919 0.826190179
FIBRODYSPLASIA OSSIFICANS PROGRESSIVA; FOP
                       0.999663602 0.998875562
DESMOID DISEASE, HEREDITARY
                       0.747589146 0.669498938
FIBROMATOSIS, GINGIVAL, 1; GINGF
FISH-EYE DISEASE; FED 0.999439336 0.998250656
FRASIER SYNDROME                  1            1
                       0.999887867
CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 1; FECD1 1
                        RETINITIS PUNCTATA ALBESCENS, INCLUDED
FUNDUS ALBIPUNCTATUS 0.982337109 0.956391353
                       0.886297376 0.893664876
FUNDUS DYSTROPHY, PSEUDOINFLAMMATORY, OF SORSBY; SFD
GASTRIC CANCER                    1            1
                                  1            1
GENITOURINARY DYSPLASIA COMPONENT OF WAGR SYNDROME; GUD
GERSTMANN-STRAUSSLER DISEASE; GSD 1            1
                       0.908275398
GLAUCOMA 1, OPEN ANGLE, A; GLC1A 0.899162814
                       0.999775734 0.996126453
GLAUCOMA, PRIMARY OPEN ANGLE; POAG
                       0.923572951
GLIOMA OF BRAIN, FAMILIAL             0.93571964
                       0.999327203 0.998625515
RENAL CYSTS AND DIABETES SYNDROME
                       0.666965687
GLOMUVENOUS MALFORMATIONS; GVM 0.684243409
                       0.774164611
AROMATASE EXCESS SYNDROME; AEXS 0.834062227
                        0.999887867
GUILLAIN-BARRE SYNDROME, FAMILIAL; GBS         1
                        0.999327203 0.995752124
HAND-FOOT-UTERUS SYNDROME
HAW RIVER SYNDROME 0.999775734 0.959640135
                        0.999046765 0.995314257
HEMATURIA, BENIGN FAMILIAL; BFH
                         0.92990801 0.924147408
HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1; HSCR1
                        0.821260372 0.769336499
PERIODIC FEVER, FAMILIAL, AUTOSOMAL DOMINANT
HOLT-ORAM SYNDROME; HOS 0.918815878 0.904035987
                         HPE3
HOLOPROSENCEPHALY 3;0.999775734 0.998875562
                         HPE4
HOLOPROSENCEPHALY 4;0.653958287        0.6242659
HUNTINGTON DISEASE; HD  0.828549002 0.780457329
                        0.866674142 0.841809322
ATTENTION DEFICIT-HYPERACTIVITY DISORDER; ADHD
                        0.889885625 0.883058471
HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT
                        0.896501458 0.888166937
HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT, TYPE B
                         0.70746888 0.759465201
PALMOPLANTAR KERATODERMA, EPIDERMOLYTIC; EPPK
                        0.737467758 0.722604023
RENAL CELL CARCINOMA 1; RCC1
                        0.999887867            1
HYPEROSTOSIS CORTICALIS GENERALISATA, BENIGN FORM OF WORTH, WITH TORUS PALATINUS
                        0.998430141 0.967762089
HYPERPARATHYROIDISM 1; HRPT1
                        0.569586184  PHA2
PSEUDOHYPOALDOSTERONISM, TYPE II;0.555409795
HYPERTENSION, ESSENTIAL 0.566046199 0.554916906
                        0.995514689 0.943896039
MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 1; MHS1
                        0.999663489  0.99622064
HYPERTROPHIC NEUROPATHY OF DEJERINE-SOTTAS
                        0.998878672 0.995752124
HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE I; HHC1
HYPOCHONDROPLASIA; HCH  0.999663602 0.998750469
                        0.553044746
HYPOGONADOTROPIC HYPOGONADISM 0.552792703
                        0.910508018 0.922029239
HYPOPARATHYROIDISM, FAMILIAL ISOLATED; FIH
HYPOPHOSPHATASIA, ADULT 0.999327203 0.997375984
                                  1
ICHTHYOSIS HYSTRIX, CURTH-MACKLIN TYPE; IHCM   1
ICHTHYOSIS VULGARIS 0.258802422 0.313882294
ICHTHYOSIS, BULLOUS TYPE0.802197802 0.719855054
                        0.999439336 INCISOR; SMMCI
SOLITARY MEDIAN MAXILLARY CENTRAL0.997251031
                        0.999887867
CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY; ICP   1
                        0.220901547 0.153192553
SMALL PATELLA SYNDROME; SPS
                                  1            1
KERATITIS-ICHTHYOSIS-DEAFNESS SYNDROME, AUTOSOMAL DOMINANT
                                  1
KERATODERMA, PALMOPLANTAR, WITH DEAFNESS1
                        0.928571429 0.900162439
KERATOSIS PALMOPLANTARIS STRIATA I
                        0.998542274 0.996001499
WAARDENBURG SYNDROME, TYPE III; WS3
                        0.275846602
KLIPPEL-TRENAUNAY-WEBER SYNDROME0.30975884
                        0.738364921 0.721479445
LACRIMOAURICULODENTODIGITAL SYNDROME; LADD
                        0.999271055  TYPE II; TRPS2
TRICHORHINOPHALANGEAL SYNDROME,0.999625187
                        0.999887867
LEIOMYOMA, HEREDITARY MULTIPLE, OF SKIN        1
LEOPARD SYNDROME 1       0.99876654  0.95952024
                                  1 0.999625141
PLATYSPONDYLIC LETHAL SKELETAL DYSPLASIA, TORRANCE TYPE; PLSDT
                        0.235366674
LEUKEMIA, CHRONIC LYMPHOCYTIC; CLL 0.35349244
                        BCL2
B-CELL CLL/LYMPHOMA 2; 0.877326755 0.880169936
                        0.386521642 0.387729601
LEUKEMIA, LYMPHOID, 1; LYL1 LYMPHOBLASTIC LEUKEMIA-DERIVED SEQUENCE 1, INCLUDED; LYL1, INCLUDED
                        0.999663602 0.965637886
LI-FRAUMENI SYNDROME 1; LFS1
                        0.940906033 0.925777833
SYSTEMIC LUPUS ERYTHEMATOSUS; SLE
                        0.643081408 0.608396851
LYMPHEDEMA, HEREDITARY, IA
                        0.999215071 0.997500937
BANNAYAN-RILEY-RUVALCABA SYNDROME; BRRS
                        0.673132989 0.716231413
CHROMOSOME 5q DELETION SYNDROME
FECHTNER SYNDROME; FTNS           1            1
EPSTEIN SYNDROME                  1            1
                                   1  AUTOSOMAL
BERNARD-SOULIER SYNDROME, BENIGN0.999500187 DOMINANT
                        0.992038574 0.995877061
MACULAR DYSTROPHY, VITELLIFORM; VMD
                                   1 0.999875047
MACULAR DEGENERATION, AGE-RELATED, 2; ARMD2
                        0.991926441 0.997751124
MACULAR DYSTROPHY, CONCENTRIC ANNULAR
                        0.124355237
HYPOMAGNESEMIA 2, RENAL; HOMG2 0.125203049
MARFAN SYNDROME; MFS0.999887867 0.994876921
MAY-HEGGLIN ANOMALY; MHA           1           1
                                   1 0.999000375
THYROID CARCINOMA, FAMILIAL MEDULLARY; MTC
MEDULLOBLASTOMA         0.929865395 0.931346827
                        MALIGNANT; 0.766337623
MELANOMA, CUTANEOUS 0.806010316 CMM
                           0.9934963 0.983256279
METAPHYSEAL CHONDRODYSPLASIA, JANSEN TYPE
                         0.99147791 0.995376734
METAPHYSEAL CHONDRODYSPLASIA, SCHMID TYPE; MCDS
KNIEST DYSPLASIA                   1           1
                        0.695671675
MEVALONATE UPTAKE FACILITATOR; MEV 0.9304011
                         HPE2
HOLOPROSENCEPHALY 2;0.790423862 0.813070099
                         OPHTHALMOPLEGIA WITH
PROGRESSIVE EXTERNAL0.999551469 0.999750094 MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT,
MONILETHRIX             0.352545414 0.422216669
                        MTS
MUIR-TORRE SYNDROME; 0.996299204 0.984193427
MULLERIAN APLASIA       0.998430141 0.998125703
COWDEN DISEASE; CD      0.981608164 0.959707646
                        0.849629962 0.852180432
NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIA; HMN2A
BETHLEM MYOPATHY        0.943883655 0.950268649
                        MUSCULAR               1A;
FACIOSCAPULOHUMERAL 0.006952231 DYSTROPHY 0 FSHMD1A
                        0.999102938 0.998500562
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1A; LGMD1A
                        0.662256111 LEUKEMIA;
MYELOID/LYMPHOID OR MIXED LINEAGE 0.658253155MLL
MYOCLONIC DYSTONIA 0.736151603 0.625140572
                         0.56043956 0.574909409
EPISODIC ATAXIA, TYPE 1; EA1
                        0.489908051 0.570536049
MYOPATHY, CENTRONUCLEAR, AUTOSOMAL DOMINANT
MYOPATHY, DISTAL 1; MPD10.997196681 0.999750094
                        0.999215071 0.999875047
MYOTONIA CONGENITA, AUTOSOMAL DOMINANT
                        0.989235255
CARNEY COMPLEX, TYPE 1; CNC1          0.93002624
NARCOLEPSY 1; NRCLP1 0.048889886 0.060352368
                        0.886185243 0.875796576
NEMALINE MYOPATHY 3; NEM3
                                   1           1
HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE; HNFJ
SCHWANNOMATOSIS         0.999775734 0.967262277
                        0.999887867 0.999250281
MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIB; MEN2B
                        0.011437542            0
NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE I; HSAN1
                        0.999887867            1
NEUROPATHY, HEREDITARY, WITH LIABILITY TO PRESSURE PALSIES; HNPP
CYCLIC HEMATOPOIESIS 0.887530837 0.876046483
                         AUTOSOMAL
SICK SINUS SYNDROME 2,0.010091949 DOMINANT;0    SSS2
NOONAN SYNDROME 1; NS1  0.988112594 0.951524238
                        0.998318009   0.95826565
NOONAN-LIKE/MULTIPLE GIANT CELL LESION SYNDROME
                        0.991814308 0.942021742
OCULODENTODIGITAL DYSPLASIA; ODDD
                        DISORDER 1; 0.527236382
OBSESSIVE-COMPULSIVE 0.550908275 OCD1
                        0.259587351 0.250281145
OCULOPHARYNGEAL MUSCULAR DYSTROPHY; OPMD
                        0.880915003 0.868674247
SPINOCEREBELLAR ATAXIA 1; SCA1
                           0.8223817 0.851449275
SPINOCEREBELLAR ATAXIA 7; SCA7
                        0.994281229 0.983756091
ENCHONDROMATOSIS, MULTIPLE
                        0.999775709 0.997875797
OSTEOGENESIS IMPERFECTA, TYPE I
                        0.999383201
OSTEOGENESIS IMPERFECTA, TYPE IIA 0.996126453
                        0.999663564
OSTEOGENESIS IMPERFECTA, TYPE IV 0.998375609
                        0.987216865 0.996626265
OSTEOPETROSIS, AUTOSOMAL DOMINANT 2; OPTA2
                       0.944712347 0.952017993
PACHYONYCHIA CONGENITA, TYPE 1; PC1
                       0.679320399 0.718917906
PACHYONYCHIA CONGENITA, TYPE 2; PC2
                       0.662292508
PANCREATITIS, HEREDITARY; PCTT        0.63896872
                                  1 0.999875047
PARAMYOTONIA CONGENITA OF VON EULENBURG; PMC
PARIETAL FORAMINA; PFM 0.991702175 0.941521929
                       0.900942338     INCLUDED
PARKINSON DISEASE; PD PARKINSONISM,0.88828086
                       0.999775734 PARK1
PARKINSON DISEASE, FAMILIAL, TYPE 1; 0.998125703
CHAR SYNDROME          0.297600359 0.279020367
                       OF RETINAL 0.998875562
PATTERNED DYSTROPHY 0.998878672 PIGMENT EPITHELIUM
                       PHA
PELGER-HUET ANOMALY; 0.987553263      0.94951893
                       0.862973761 0.880809595
ANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSIS
                       0.999719637 0.999187805
HYPOKALEMIC PERIODIC PARALYSIS; HOKPP
                                  1
HYPERKALEMIC PERIODIC PARALYSIS; HYPP          1
PERIODONTITIS, AGGRESSIVE, 1      1            1
                       0.999775734 0.998625515
MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA; MEN2A
PICK DISEASE OF BRAIN             1            1
PIEBALD TRAIT; PBT     0.935860058 0.907909534
                       0.996860283 0.999000375
PITUITARY DWARFISM DUE TO ISOLATED GROWTH HORMONE DEFICIENCY, AUTOSOMAL DOMINANT
KINDLER SYNDROME       0.255662705 0.327877046
POLYCYSTIC KIDNEYS       0.93972188   0.91272023
                       0.521251542 0.537481259
POLYCYSTIC LIVER DISEASE; PCLD
                        II; PPD2
POLYDACTYLY, PREAXIAL 0.991702175     0.98488067
                       0.992150706 HEREDITARY
POLYOSTOTIC OSTEOLYTIC DYSPLASIA, 0.977511244 EXPANSILE; HEPOD
                       0.984355725
JUVENILE POLYPOSIS SYNDROME; JPS 0.920842184
                       0.999775734 0.998750469
ADENOMATOUS POLYPOSIS OF THE COLON; APC
                       0.837856022 0.826190179
PEUTZ-JEGHERS SYNDROME; PJS
PORENCEPHALY, FAMILIAL 0.986431935 0.937023616
PORPHYRIA CUTANEA TARDA0.024557076             0
PORPHYRIA VARIEGATA 0.508579119       0.48706735
                       0.521753756 0.540172435
PRADER-WILLI SYNDROME; PWS
                       0.998654407 0.995376734
PREAXIAL DEFICIENCY, POSTAXIAL POLYDACTYLY, AND HYPOSPADIAS
                       0.840322942
PRECOCIOUS PUBERTY, MALE-LIMITED 0.815194302
                        SEPARATION 0.968261902
PREMATURE CHROMATID 0.999102938 TRAIT; PCS
                       0.999102938 0.998875422
DEMENTIA, FAMILIAL BRITISH; FBD
PROSTATE CANCER        0.781890235    0.77815259
                       0.962996187    0.94789454
PROTEIN C DEFICIENCY, CONGENITAL THROMBOTIC DISEASE DUE TO
PROTEUS SYNDROME         0.99876654 0.996876562
                         0.99876654 0.995501687
PSEUDOACHONDROPLASIA; PSACH
LIDDLE SYNDROME        0.949029943 0.939092954
                       0.994393362 AUTOSOMAL
PSEUDOHYPOALDOSTERONISM, TYPE I, 0.985630389 DOMINANT
                       0.999887867 0.999500187
PSEUDO-VON WILLEBRAND DISEASE
                       0.814756672 0.877420967
PULMONARY FIBROSIS, IDIOPATHIC
                       0.857591388 PPH1
PULMONARY HYPERTENSION, PRIMARY; 0.844683244
                       0.974545862 0.957765838
RENAL TUBULAR ACIDOSIS, DISTAL, AUTOSOMAL DOMINANT
                       0.999887867 0.999375234
DOWLING-DEGOS DISEASE; DDD
                         RP1
RETINITIS PIGMENTOSA 1;0.820923974 0.871048357
                         RP9
RETINITIS PIGMENTOSA 9;0.083763176 0.099962514
RETINOBLASTOMA; RB1 0.992935636 0.924528302
                        RA
RHEUMATOID ARTHRITIS; 0.464842436 0.448519305
ROBINOW-SORAUF SYNDROME0.997869477 0.986255154
                                  1
ROUSSY-LEVY HEREDITARY AREFLEXIC DYSTASIA 1
                         0.89414667
RUBINSTEIN-TAYBI SYNDROME; RSTS 0.885667875
SARCOIDOSIS            0.389437094 0.396601275
                        0.01906257
ULNAR-MAMMARY SYNDROME; UMS                    0
SCHIZOPHRENIA; SCZD     0.53969945 0.877498751
                       0.999887867 0.995752124
SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME
SEPTOOPTIC DYSPLASIA 0.993384167 0.992877671
                       0.508935247 0.521822422
SMITH-MAGENIS SYNDROME; SMS
                       0.054160126 0.060102462
SPASTIC PARAPLEGIA 4, AUTOSOMAL DOMINANT; SPG4
                       0.886185243 0.890166188
SPHEROCYTOSIS, HEREDITARY; HS
MYOPATHY, SPHEROID BODY0.998430141   0.99562664
                       0.718883158 0.711983006
SPINOCEREBELLAR ATAXIA 2; SCA2
                                 1
SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA; SEDC   1
                       0.998093529 0.998250656
SPONDYLOEPIMETAPHYSEAL DYSPLASIA, STRUDWICK TYPE
                       BROAD THUMB AND TOES
STAPES ANKYLOSIS WITH 0.999887867              1
STEATOCYSTOMA MULTIPLEX0.993944831 0.992628686
                       0.995290424 0.991129435
POLYCYSTIC OVARY SYNDROME 1; PCOS1
SYMPHALANGISM, PROXIMAL; SYM1 1                1
SYNDACTYLY, TYPE III   0.994617627 0.947019868
                       0.999887867
MULTIPLE SYNOSTOSES SYNDROME 1; SYNS1          1
                       0.999887867             1
TARSAL-CARPAL COALITION SYNDROME; TCC SYNOSTOSIS OF TALUS AND CALCANEUS WITH SHORT STATURE, IN
                       0.982731554 0.997750843
SYNOVITIS, GRANULOMATOUS, WITH UVEITIS AND CRANIAL NEUROPATHIES
TETRALOGY OF FALLOT 0.956221026 0.948852514
                       0.999887867 0.999750094
THANATOPHORIC DYSPLASIA, TYPE I; TD1
                       0.999887867 0.999750094
THANATOPHORIC DYSPLASIA, TYPE II; TD2
                       0.914666966 0.901424288
THROMBOCYTHEMIA, ESSENTIAL
                        0.90166031 0.843953023
THROMBOPHILIA VENOUS THROMBOEMBOLISM, INCLUDED
                       0.999439336 0.992502811
THROMBOPHILIA DUE TO DEFICIENCY OF ACTIVATED PROTEIN C COFACTOR
                       0.801794929 0.777286357
THYROID CARCINOMA, PAPILLARY
                       0.999102938 0.955391728
THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT; GRTH
WITKOP SYNDROME        0.999215071   0.99562664
                       0.672572326 0.575159315
TREMOR, HEREDITARY ESSENTIAL, 1; ETM1
                       0.283695896 0.340247407
TRICHODENTOOSSEOUS SYNDROME
                       0.999327203  TYPE I; TRPS1
TRICHORHINOPHALANGEAL SYNDROME,0.999625141
                       0.999215071  TYPE III; TRPS3
TRICHORHINOPHALANGEAL SYNDROME,0.999750094
                       0
TUBEROUS SCLEROSIS; TS.989906919 0.936344328
                       0.991925535 0.997438781
ULCERATIVE COLITIS, SUSCEPTIBILITY TO
MUCKLE-WELLS SYNDROME  0.998878672 0.998625515
                       0.493159901 0.506371814
VELOCARDIOFACIAL SYNDROME
                       0.999887867
LONG QT SYNDROME 1; LQT1                       1
                       0.997890958 0.990328627
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC; CMH
                       0.999775734
VENTRICULAR TACHYCARDIA, FAMILIAL 0.999375234
                        0.55068401 0.509808822
VERTICAL TALUS, CONGENITAL; CVT
                       0.997196681 0.972385355
HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL DOMINANT; ADHR
                       0.810383494
VON HIPPEL-LINDAU SYNDROME; VHL 0.879670124
VON WILLEBRAND DISEASE 0.999663602 0.978757966
                        0.99876654 0.996001499
WAARDENBURG SYNDROME, TYPE I; WS1
                       0.999215071 0.990878421
WAARDENBURG SYNDROME, TYPE IIA; WS2A WS2
                       0.995178291 0.995877061
WEYERS ACROFACIAL DYSOSTOSIS
WHIM SYNDROME          0.861852433 0.809970015
                       0.571092173 0.585832084
WHITE SPONGE NEVUS OF CANNON
                       0.546870092 0.543842118
WILLIAMS-BEUREN SYNDROME; WBS
WILMS TUMOR 1; WT1               1             1
DENYS-DRASH SYNDROME; DDS        1             1
                       0.999327203 0.994876921
WOLF-HIRSCHHORN SYNDROME; WHS WOLF-HIRSCHHORN CHROMOSOME REGION, INCLUDED; WHCR, INCLUDED
                       0.999663602
WOLFF-PARKINSON-WHITE SYNDROME 0.999125328
ZINC, ELEVATED PLASMA 0.882036331 0.861676871
                       ABL
ABETALIPOPROTEINEMIA; 0.778649922 0.748625687
ACHONDROGENESIS, TYPE II; ACG2 1 0.999750094
CHONDRODYSPLASIA, GREBE TYPE 1 0.999875047
                       0.999887867
ACROMESOMELIC DYSPLASIA, HUNTER-THOMPSON TYPE 1
ACTH DEFICIENCY        0.250840996 0.231288267
                       0.218771025 0.246126937
ACYL-CoA DEHYDROGENASE, MEDIUM-CHAIN, DEFICIENCY OF
                       0.017268446            0
ACYL-CoA DEHYDROGENASE, VERY LONG-CHAIN, DEFICIENCY OF
                        0.58483795 0.561851806
LIPOID CONGENITAL ADRENAL HYPERPLASIA
POR DEFICIENCY          0.99472976   0.94552043
                       0.905696344 0.894914407
ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 17-ALPHA-HYDROXYLASE DEFICIENCY
                       0.582866113 0.774709484
GLUCOCORTICOID DEFICIENCY 1; GCCD1
                       0.953017725 0.940972135
ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL FORM
                       0.875915956 0.824149277
AFIBRINOGENEMIA, CONGENITAL
                       0.999663602            1
NEUTROPENIA, SEVERE CONGENITAL, AUTOSOMAL DOMINANT 1; SCN1
                       0.999887867
ALBINISM, OCULOCUTANEOUS, TYPE IA; OCA1A      1
                       0.999887867 0.999625141
ALBINISM, OCULOCUTANEOUS, TYPE III; OCA3
                       0.377855059
HERMANSKY-PUDLAK SYNDROME; HPS 0.377083594
                       0.999551469 0.998125703
CORTICOSTERONE METHYLOXIDASE TYPE I DEFICIENCY
ALEXANDER DISEASE      0.911058771   0.89503936
ALKAPTONURIA           0.016819915            0
                       0.999887867
ALOPECIA UNIVERSALIS CONGENITA; ALUNC0.99762589
                       0.994954026 0.998375609
ALPERS DIFFUSE DEGENERATION OF CEREBRAL GRAY MATTER WITH HEPATIC CIRRHOSIS
                       0.999775709 0.996064468
ALPORT SYNDROME, AUTOSOMAL RECESSIVE
ALSTROM SYNDROME; ALMS 0.167189953 0.204147926
                        0.99542293 0.985955267
LEBER CONGENITAL AMAUROSIS, TYPE I; LCA1
                       0.961986993    LCA2
LEBER CONGENITAL AMAUROSIS, TYPE II;0.99125328
                        NEURONAL,
CEROID LIPOFUSCINOSIS,0.034536892 2; CLN2     0
                       0.999663602            1
AMYOTROPHIC LATERAL SCLEROSIS 2, JUVENILE; ALS2
TANGIER DISEASE; TGD 0.991925535 0.962014245
                       0.493047769 0.446832438
MICROPHTHALMIA, SYNDROMIC 3; MCOPS3
                       0.992262839 0.948269399
ANTLEY-BIXLER SYNDROME; ABS
                       0.904350751 0.896288892
APOLIPOPROTEIN C-II DEFICIENCY
ARGININEMIA            0.242206773 0.261526927
                       0.078829334
ARGININOSUCCINIC ACIDURIA            0.08546795
                       0.789751065 0.918030738
ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY; GACI
                         DYSFUNCTION, AND CHOLESTASIS
ARTHROGRYPOSIS, RENAL0.00325185               0
ASPARTYLGLUCOSAMINURIA 0.128167751 0.113957266
                        0.89336174 0.890915907
ATAXIA-TELANGIECTASIA; AT
                       0.983965015 0.930651006
ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA; EAOH
ATRANSFERRINEMIA       0.935860058 0.909908784
                       0.999215071
ATRICHIA WITH PAPULAR LESIONS; APL 0.996626687
AUTISM                 0.365889213 0.380857179
                       0.883987661   0.88005997
AUTONOMIC CONTROL, CONGENITAL FAILURE OF
                       0.178405862 0.200841351
BARDET-BIEDL SYNDROME; BBS
                       0.284772855
BARE LYMPHOCYTE SYNDROME, TYPE II 0.275677871
                        0.71332735
ATYPICAL MYCOBACTERIOSIS, FAMILIAL 0.701287017
SITOSTEROLEMIA         0.012448133            0
SECKEL SYNDROME 1      0.860058309   0.82781457
BLOOM SYNDROME; BLM 0.837183225 0.814069724
                       0.993047769   0.97138573
TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL; HFTC
LUNG CANCER            0.965044115 0.944652674
                          0.8880915 0.875921529
CARBOXYPEPTIDASE N DEFICIENCY
                       0.893586006     0.9562664
CARNITINE DEFICIENCY, SYSTEMIC PRIMARY; CDSP
MARTSOLF SYNDROME       0.89538013 0.888291891
                       ZS
ZELLWEGER SYNDROME; 0.957931344 0.946669999
                       0.994841314 0.967074847
CEREBROOCULOFACIOSKELETAL SYNDROME 1; COFS1
                       0.999663602 0.986380107
GRISCELLI SYNDROME, TYPE 1; GS1
                       0.621888316 0.591778083
CHEDIAK-HIGASHI SYNDROME; CHS
                       CHLORIDE, 0.548544296
DIARRHEA 1, SECRETORY0.546759363 CONGENITAL
                       0.996411752 0.990378608
CHONDRODYSPLASIA, BLOMSTRAND TYPE; BOCD
                       0.981161695 0.968761714
RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 1; RCDP1
                       0.988674591 0.954392103
HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA
CHONDROSARCOMA         0.999887867 0.999750094
CIRRHOSIS, FAMILIAL    0.844846922 0.828376859
CITRULLINEMIA, CLASSIC 0.538573671 0.556541297
                       0.913816306 0.888729227
COCKAYNE SYNDROME, TYPE A; CSA
                       0.893025342 0.885293015
COMPLEMENT COMPONENT 2 DEFICIENCY
                       0.924871047 0.898288142
COMPLEMENT COMPONENT 6 DEFICIENCY
                       0.920161471 0.911283269
PLASMINOGEN DEFICIENCY, TYPE I
COSTELLO SYNDROME 0.948643194 0.915281769
                       0.681430814 0.710108709
HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 2; CHNG2
                       0.038465852
CRYPTORCHIDISM, UNILATERAL OR BILATERAL        0
                        0.76308509 0.722555389
CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE I
CYSTATHIONINURIA       0.001121328             0
CYSTIC FIBROSIS; CF    0.997420946 0.957390978
CYSTINURIA             0.292666517   0.16581282
                                  1            1
DEAFNESS, NEUROSENSORY, AUTOSOMAL RECESSIVE 1; DFNB1
                       0.965234944 0.953017618
JERVELL AND LANGE-NIELSEN SYNDROME; JLNS1
                       0.088146238 0.098900412
POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY; PLOSL
                       0.999775734 0.981007122
DIABETES MELLITUS, INSULIN-DEPENDENT; IDDM
                        0.40390222
LYSINURIC PROTEIN INTOLERANCE; LPI 0.282394102
                       0.993944831 0.918655504
RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 2; RCDP2
                       0.281901772 0.259402724
DIPHOSPHOGLYCERATE MUTASE DEFICIENCY OF ERYTHROCYTE
                       0.381812065 0.445457953
SUCRASE-ISOMALTASE DEFICIENCY, CONGENITAL; CSID
                       0.782013904 0.739130435
LACTASE DEFICIENCY, CONGENITAL
LACTASE PERSISTENCE 0.314532406 0.205672873
                        0.76642745 0.741222042
NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE III; HSAN3
                       0.991590043 0.929776334
DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE; DDSH
                       0.984075362
ECTODERMAL DYSPLASIA, ANHIDROTIC 0.954210395
                       0.999327203 0.993128436
ROSSELLI-GULIENETTI SYNDROME
                       0.999215071 0.994377109
CLEFT LIP/PALATE-ECTODERMAL DYSPLASIA SYNDROME; CLPED1
                       0.993608432
ELLIS-VAN CREVELD SYNDROME; EVC 0.995251781
ENTEROKINASE DEFICIENCY0.917246019 0.920654754
                                  1            1
EPIDERMOLYSIS BULLOSA DYSTROPHICA, HALLOPEAU-SIEMENS TYPE; EBR1
                       0.965492747    ATROPHIC
EPIDERMOLYSIS BULLOSA, GENERALIZED0.94248709 BENIGN; GABEB
                       0.998878672   LIMB-GIRDLE
EPIDERMOLYSIS BULLOSA SIMPLEX AND0.985505435 MUSCULAR DYSTROPHY
                       0.967309633
EPIDERMOLYSIS BULLOSA LETALIS          0.9513993
                       0.985534873 0.958765463
EPIDERMOLYSIS BULLOSA WITH PYLORIC ATRESIA
                       0.641287284 0.665375484
EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH EARLY-ONSET DIABETES MELLITUS
                       0.962879892 0.912668666
FACTOR V AND FACTOR VIII, COMBINED DEFICIENCY OF; F5F8D
FACTOR V DEFICIENCY 0.999551469 0.998375609
FACTOR VII DEFICIENCY 0.924086118 0.894414595
FACTOR X DEFICIENCY 0.912087912 0.898912908
FANCONI ANEMIA; FA     0.702131479 0.717241379
                       0.873514241 0.898538048
FANCONI-BICKEL SYNDROME; FBS
FERTILE EUNUCH SYNDROME0.997196681 0.997875797
                         HYALINE
FIBROMATOSIS, JUVENILE0.999327203 0.995876546
                                   1 0.999875047
FIBULAR HYPOPLASIA AND COMPLEX BRACHYDACTYLY
                       0.983740749 0.983133433
FIBULAR APLASIA OR HYPOPLASIA, FEMORAL BOWING AND POLY-, SYN-, AND OLIGODACTYLY
                       0.840995739 0.811820567
PREKALLIKREIN DEFICIENCY
                       0.494841893 0.503311258
FRIEDREICH ATAXIA 1; FRDA
                       0.344583987
FRUCTOSE INTOLERANCE, HEREDITARY0.286392603
FRUCTOSURIA            0.013455932              0
                       0.008185692
GALACTOSE EPIMERASE DEFICIENCY                  0
GALACTOSEMIA           0.220453016 0.380982132
GM1-GANGLIOSIDOSIS, TYPE I         1 0.999875047
GM1-GANGLIOSIDOSIS, TYPE II        1            1
GM1-GANGLIOSIDOSIS, TYPE III       1            1
                        I
GAUCHER DISEASE, TYPE 0.999887867               1
GAUCHER DISEASE, TYPE II           1            1
GAUCHER DISEASE, TYPE III          1            1
GAUCHER DISEASE, TYPE IIIC         1            1
GIANT PLATELET SYNDROME0.957048335 0.951643134
GLUTARIC ACIDEMIA I       0.01906257            0
                          0.03689168
MULTIPLE ACYL-CoA DEHYDROGENASE DEFICIENCY; MADD0
                       0.999327203 0.998500562
GLUTATHIONE SYNTHETASE DEFICIENCY OF ERYTHROCYTES, HEMOLYTIC ANEMIA DUE TO
GLUTATHIONURIA         0.430814084 0.499062851
                       0.294348509
GLYCOGEN STORAGE DISEASE II            0.33399975
                       0.008073559
GLYCOGEN STORAGE DISEASE VI                     0
                       0.999102938 0.996126937
OVARIAN DYSGENESIS 1; ODG1
                       0.958847275
GTP CYCLOHYDROLASE I DEFICIENCY        0.93877296
FACTOR XII DEFICIENCY 0.895828661 0.896413845
HEMOCHROMATOSIS; HFE   0.988113927 0.974634512
                       0.788358008     0.78649673
HEMOLYTIC UREMIC SYNDROME, ATYPICAL; aHUS HEMOLYTIC UREMIC SYNDROME, TYPICAL, INCLUDED
MOWAT-WILSON SYNDROME     0.49876654 0.499062851
HOMOCYSTINURIA         0.568737385 0.574034737
                       0.293451447 0.445957766
HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY
                       0.907826867     0.90378608
HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA DUE TO DEFECT IN COBALAMIN METABOLISM, cblE COMPLEMENTATI
                       0.999775734 0.992877671
HYALINOSIS, INFANTILE SYSTEMIC
WALKER-WARBURG SYNDROME0.016821801              0
                        SYNTHETASE 0.98025987
CARBAMOYL PHOSPHATE 0.943597219 I DEFICIENCY, HYPERAMMONEMIA DUE TO
                          0.67885176
DUBIN-JOHNSON SYNDROME; DJS            0.61351993
                        TYPE I
HYPERLIPOPROTEINEMIA,0.932832474 0.905285518
PAGET DISEASE, JUVENILE0.821821036 0.800699738
                        NEONATAL       0.99562664
HYPERPARATHYROIDISM, 0.999102938SEVERE PRIMARY; NSHPT
                       0.578156537     0.54354617
AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I; APS1
                       0.658892128 0.590653505
COMMON VARIABLE IMMUNODEFICIENCY; CVID
HYPOGLYCEMIA, LEUCINE-INDUCED; 1   LIH          1
                       0.574231891 0.562289142
BARTTER SYNDROME, ANTENATAL, TYPE 2
                       0.999215071 0.997251031
HYPOPHOSPHATASIA, INFANTILE
                       0.998205876 0.996126453
HYPOPHOSPHATASIA, CHILDHOOD
                       0.685691859 0.788204423
HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL RECESSIVE
                       0.882148464
HYPOPROTEINEMIA, HYPERCATABOLIC 0.862051731
                       0.949198161 0.947582157
ICHTHYOSIFORM ERYTHRODERMA, CONGENITAL, NONBULLOUS, 1; NCIE1
                       0.996187486 0.992752718
ICHTHYOSIS, LAMELLAR, 1; LI1
PRIMARY CILIARY DYSKINESIA; PCD 1 0.999250375
                       0.453577035 0.426090216
IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME
ISONIAZID INACTIVATION 0.068400987 0.074597026
                       0.010091949
ISOVALERIC ACIDEMIA; IVA                      0
                         0.45985647
JOHANSON-BLIZZARD SYNDROME; JBS 0.427214794
KARTAGENER SYNDROME0.999775734 0.999750094
                       0.999887867
PAPILLON-LEFEVRE SYNDROME; PALS 0.999875047
HAIM-MUNK SYNDROME; HMS0.999887867            1
KEUTEL SYNDROME           0.6447634 0.581282019
KURU, SUSCEPTIBILITY TO           1           1
                       0.560215295 0.907284768
ERYTHROCYTE LACTATE TRANSPORTER DEFECT
                          0.9144427
SPECIFIC GRANULE DEFICIENCY; SGD     0.89304011
                       0.871832249 0.834312133
GROWTH HORMONE INSENSITIVITY WITH IMMUNODEFICIENCY
                       0.999551469   0.99800075
LECITHIN:CHOLESTEROL ACYLTRANSFERASE DEFICIENCY
DONOHUE SYNDROME       0.998542274 0.950643509
                       0.794572774   0.75984006
LIPOID PROTEINOSIS OF URBACH AND WIETHE
                       0.992599237 0.933533233
MILLER-DIEKER LISSENCEPHALY SYNDROME; MDLS
STARGARDT DISEASE 1; STGD1        1           1
                       0.464005382
HYPOMAGNESEMIA 3, RENAL; HOMG3 0.504810696
                       0.999551469 0.992252905
PLASMODIUM FALCIPARUM BLOOD INFECTION LEVEL
                       0.201585165 0.337956022
MAPLE SYRUP URINE DISEASE
                       0.711145997
MARINESCO-SJOGREN SYNDROME; MSS 0.72247907
MAST SYNDROME          0.342565598 0.278520555
                       0.996187486
FAMILIAL MEDITERRANEAN FEVER; FMF 0.985005623
                         0.99876654 0.999375234
LANGER MESOMELIC DYSPLASIA
                       0.921619197   0.90178683
METACHROMATIC LEUKODYSTROPHY DUE TO SAPOSIN B DEFICIENCY
                       0.987777529
METACHROMATIC LEUKODYSTROPHY         0.96701237
                       0.927225835 0.903911033
METHEMOGLOBINEMIA DUE TO DEFICIENCY OF CYTOCHROME b5
                       0.898519847 0.894039735
METHEMOGLOBINEMIA DUE TO DEFICIENCY OF METHEMOGLOBIN REDUCTASE
                       0.346153846 0.399475197
METHYLCOBALAMIN DEFICIENCY, cblG TYPE
                          0.0065037
3-@METHYLGLUTACONIC ACIDURIA, TYPE I          0
                         0.97443373 0.907159815
METHYLMALONIC ACIDURIA DUE TO METHYLMALONYL-CoA MUTASE DEFICIENCY
                       0.986992599
METHYLMALONIC ACIDURIA, cblA TYPE 0.91091954
                       0.934402332
METHYLMALONIC ACIDURIA, cblB TYPE 0.91091954
                       0.998205876 0.998875422
MICROCEPHALY, PRIMARY AUTOSOMAL RECESSIVE, 1; MCPH1
                       0.948643194 0.929901287
NIJMEGEN BREAKAGE SYNDROME
                       0.026687598            0
MITOCHONDRIAL DNA DEPLETION SYNDROME, HEPATOCEREBRAL FORM
                       0.935471811
MITOCHONDRIAL COMPLEX I DEFICIENCY0.89862135
                       0.048104956
MOLYBDENUM COFACTOR DEFICIENCY 0.053604898
MUCOLIPIDOSIS III GAMMA0.054720789            0
MORQUIO SYNDROME B 0.999775734 0.999375234
                       0.453240637 0.425037481
MUCOPOLYSACCHARIDOSIS TYPE VII
MULIBREY NANISM        0.673357255 0.679995002
                       0.988113927 0.985757121
MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE
                         0.73635412 0.723096785
SPINAL MUSCULAR ATROPHY, TYPE I; SMA1
                       0.999327128 0.996251406
SPINAL MUSCULAR ATROPHY, TYPE III; SMA3
                       0.999327128 0.996313882
SPINAL MUSCULAR ATROPHY, TYPE II; SMA2
                       0.922516259 0.904922539
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2A; LGMD2A
                       0.999663602 0.999125328
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B; LGMD2B
                       0.969836286 0.905910284
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2C; LGMD2C
                        0.988056521     0.998001
ULLRICH CONGENITAL MUSCULAR DYSTROPHY; UCMD
                        0.607759587 0.555541672
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2H; LGMD2H
MIYOSHI MYOPATHY; MM 0.999887867 0.999875047
MYASTHENIA GRAVIS; MG 0.998037016 0.994189679
                         CONGENITAL, ASSOCIATED
MYASTHENIC SYNDROME,0.970060552 0.979257778 WITH EPISODIC APNEA
                        0.871832249 0.830188679
MYELOPEROXIDASE DEFICIENCY
                        0.999215071
MYOCLONIC EPILEPSY, JUVENILE, 1; EJM1          1
                         0.06122449
MYOCLONIC EPILEPSY OF LAFORA                   0
                         UNVERRICHT 0.578283144
MYOCLONIC EPILEPSY OF0.611572101 AND LUNDBORG
                        0.621103386 0.617768337
CARNITINE PALMITOYLTRANSFERASE I DEFICIENCY
                        0.999215071 0.999750094
MYOTONIA CONGENITA, AUTOSOMAL RECESSIVE
                        0.990917246  SJS1
SCHWARTZ-JAMPEL SYNDROME, TYPE 1; 0.92802699
MYXOMA, INTRACARDIAC 0.9934963 0.934899413
LEIGH SYNDROME; LS      0.974543008 0.997688367
                        0.893137475 0.891929035
NEMALINE MYOPATHY 2; NEM2
                        0.999439336 0.978633013
NEPHRONOPHTHISIS 1; NPHP1
                        0.903341556 0.899287767
NEPHROSIS 1, CONGENITAL, FINNISH TYPE; NPHS1
                                  1            1
NEPHROTIC SYNDROME, EARLY-ONSET, WITH DIFFUSE MESANGIAL SCLEROSIS
                                  1            1
HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1; HHF1
                        NETH
NETHERTON SYNDROME; 0.759811617      0.85367987
NEURAMINIDASE DEFICIENCY0.925992375 0.903411221
ELEJALDE DISEASE        0.999663602 0.987879545
                         0.90188383 0.906660002
INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS; CIPA
                        0.766763848 0.719605148
NEUROPATHY, HEREDITARY SENSORY, WITH SPASTIC PARAPLEGIA, AUTOSOMAL RECESSIVE
                        0.341780668
GIANT AXONAL NEUROPATHY 1; GAN1 0.350368612
                        0.999551469 0.995751593
NIEMANN-PICK DISEASE, TYPE A
                        0.166068625 0.239410221
NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1B; CSNB1B
                        0.999327203 0.966262652
MOSAIC VARIEGATED ANEUPLOIDY SYNDROME; MVA
LISSENCEPHALY 2; LIS2 0.508073559 0.430409795
OGUCHI DISEASE          0.810754738 0.858945527
                         OPHTHALMOPLEGIA WITH
PROGRESSIVE EXTERNAL0.998430141 0.999125328 MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE
                         0.16382597 0.223166313
ORNITHINE AMINOTRANSFERASE DEFICIENCY
OROTIC ACIDURIA I       0.120654855 0.127327252
                        0.999663564
OSTEOGENESIS IMPERFECTA, TYPE III 0.998625515
OSTEOGENIC SARCOMA 0.994169096 0.936148944
                        0.556184816 0.550543546
OSTEOPETROSIS, AUTOSOMAL RECESSIVE 1; OPTB1
                        0.855685131 0.856428839
OSTEOPETROSIS, AUTOSOMAL RECESSIVE 3; OPTB3
                        0.999775734 0.999875047
OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME; OPPG
                        0.814083875 0.852180432
HYPEROXALURIA, PRIMARY, TYPE I
                        0.143081408 0.194926902
HYPEROXALURIA, PRIMARY, TYPE II
PANCREATIC CARCINOMA0.991253644 0.911908034
                        0.999215071
PANCREATIC AGENESIS, CONGENITAL 0.999125328
                        0.998990805 0.971389305
PAPILLOMA OF CHOROID PLEXUS
PARKINSON-DEMENTIA SYNDROME 1                  1
HYPER-IgD SYNDROME; HIDS0.465799507  0.58090716
                        0.908275398 0.900162439
INTRINSIC FACTOR DEFICIENCY; IFD
                        1
MEGALOBLASTIC ANEMIA 0.507681956     0.50656004
                        0.603834941
D-BIFUNCTIONAL PROTEIN DEFICIENCY 0.573534924
                        0.438488281 0.512245408
PERSISTENT MULLERIAN DUCT SYNDROME, TYPES I AND II; PMDS
PHENYLKETONURIA         0.000336398            0
PHENYLKETONURIA II      0.000336398            0
                         DEFICIENCY 0.170810946
PHOSPHORYLASE KINASE0.104956268 OF LIVER AND MUSCLE, AUTOSOMAL RECESSIVE
                       0.998093743   0.94890055
PINEAL HYPERPLASIA, INSULIN-RESISTANT DIABETES MELLITUS, AND SOMATIC ABNORMALITIES
PITUITARY DWARFISM I 0.603846585 0.670998376
                       0.879008746 0.881169561
GROWTH HORMONE INSENSITIVITY SYNDROME
PITUITARY DWARFISM III 0.952450376   0.94789454
PITUITARY DWARFISM IV 0.996523884 0.998750469
                       0.898856246
PLASMIN INHIBITOR DEFICIENCY            0.890666
                        0.54541377 0.537798326
POLYCYSTIC KIDNEY DISEASE, AUTOSOMAL RECESSIVE; ARPKD
                        0.14151155 0.205797826
PORPHYRIA, CONGENITAL ERYTHROPOIETIC
GITELMAN SYNDROME      0.857927786 0.878795452
                       0.852545414 0.849806323
HYPERPHENYLALANINEMIA WITH PRIMAPTERINURIA
                       0.943198385   0.94552043
PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL RECESSIVE; PHA1
PTA DEFICIENCY         0.892240413 0.886792453
                       0.978806907 0.985757121
MULTIPLE PTERYGIUM SYNDROME, ESCOBAR VARIANT
                        0.57895032 0.560789704
SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 1; SMDP1
                       0.979367571 0.983758121
PULMONARY HYPERTENSION, FAMILIAL PERSISTENT, OF THE NEWBORN
PYCNODYSOSTOSIS        0.652500561 0.570214893
GLUTATHIONE SYNTHETASE DEFICIENCY1             1
                                 1
PYROPOIKILOCYTOSIS, HEREDITARY; HPP            1
                       0.840995739
PYRUVATE CARBOXYLASE DEFICIENCY 0.729726353
                       0.998990805 CELLS
PYRUVATE KINASE DEFICIENCY OF RED 0.999625141
REFSUM DISEASE         0.937310755 0.919530176
                       0.979886347 0.993170082
REFSUM DISEASE, INFANTILE FORM
                       0.772739511
INFLAMMATORY BOWEL DISEASE 1; IBD10.790554723
                       0.999215071 0.982381607
SENIOR-LOKEN SYNDROME 1; SLSN1
                       0.851536219 0.861676871
RENAL TUBULAR ACIDOSIS, DISTAL, WITH PROGRESSIVE NERVE DEAFNESS
                       0.766479695 0.759465201
RETINITIS PIGMENTOSA; RP
                       0.901323167
ENHANCED S-CONE SYNDROME; ESCS 0.895539173
                       0.911527248 0.898288142
RH-NULL, REGULATOR TYPE; RHN
                       RMS2
RHABDOMYOSARCOMA 2; 0.624570061 0.588788939
                       0.985086342 0.961144428
ROBINOW SYNDROME, AUTOSOMAL RECESSIVE
SANDHOFF DISEASE       0.191859161   0.12882669
MOVED TO 187600        0.999775734 0.998750469
                       0.584211707 0.549169062
SPASTIC ATAXIA, CHARLEVOIX-SAGUENAY TYPE; SACS
                       0.058309038 0.058603024
AZOOSPERMIA DUE TO PERTURBATIONS OF MEIOSIS
                                 1 0.999750094
SPHEROCYTOSIS, AUTOSOMAL RECESSIVE
SPONDYLOPERIPHERAL DYSPLASIA 1 0.999250375
CANAVAN DISEASE        0.003588248             0
SUDDEN INFANT DEATH SYNDROME 1                 1
                       0.990132317
MULTIPLE SULFATASE DEFICIENCY; MSD0.968761714
                       0.333819242 0.275771586
COLD-INDUCED SWEATING SYNDROME 1; CISS1
                       0.910293788
TAY-SACHS DISEASE, AB VARIANT        0.90178683
TAY-SACHS DISEASE; TSD 0.90266876 0.899662627
THREE M SYNDROME       0.279322718 0.294014744
                       0.889088258  NAEGELI
THROMBASTHENIA OF GLANZMANN AND0.887354742
                       0.997420946             1
THROMBOTIC THROMBOCYTOPENIC PURPURA, CONGENITAL; TTP
                       0.998542274 0.957765838
THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL RECESSIVE; GRTH
                       0.983965015 0.926777458
THYROID HORMONOGENESIS, GENETIC DEFECT IN, 2A
GRAVES DISEASE         0.988505103 0.957083958
                        0.87755102
THYROTROPIN DEFICIENCY, ISOLATED 0.877561219
                       0.364095089 0.383731101
THYROTROPIN-RELEASING HORMONE DEFICIENCY
                       0.998093743 0.979507685
HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1; CHNG1
                       AUTOSOMAL 0.152048976
SPASTIC PARAPLEGIA 20, 0.178178964 RECESSIVE; SPG20
                      0.999027965
MISMATCH REPAIR CANCER SYNDROME 0.992378811
                      0.982731554 0.977758341
ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY
                      I
USHER SYNDROME, TYPE 0.999607491 0.999187805
                      IIA; USH2A
USHER SYNDROME, TYPE 0.819690514 0.851824088
                      0.992150706    0.98887917
VACTERL ASSOCIATION WITH HYDROCEPHALUS
                      0.997869477 0.964763214
VAS DEFERENS, CONGENITAL BILATERAL APLASIA OF; CBAVD
                      0.721462211 0.675621642
VITAMIN D-DEPENDENT RICKETS, TYPE II
                      0.903677955 0.896163939
VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 1
                      0.999775734 FORM
VON WILLEBRAND DISEASE, RECESSIVE 0.988254405
                      0.992335876 0.975387306
WAARDENBURG-SHAH SYNDROME
WEAVER SYNDROME       0.995066158 0.990503561
                      0
WERNER SYNDROME; WRN.816887194 0.742846433
                      0.778537789 0.722978883
WERNICKE-KORSAKOFF SYNDROME
WILSON DISEASE          0.72505046 0.608896664
XANTHINURIA, TYPE I   0.028930253             0
                      0.999887867   ROCA
ALBINISM, RUFOUS OCULOCUTANEOUS; 0.999625141
                      0.879681543    0.83856054
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP A; XPA
                      0.896501458 0.893914782
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C; XPC
                      0.994954026 0.988379358
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP D; XPD
                      0.894819466 0.885043109
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP E
                      0.368804665 0.411345745
XERODERMA PIGMENTOSUM, VARIANT TYPE; XPV
                      0.715407042 0.586530051
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP F; XPF
                      0.988674591 0.958515557
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP G; XPG
                      0.986544068 0.948019493
DE SANCTIS-CACCHIONE SYNDROME
OPITZ SYNDROME        0.860955371 0.851555667
DENT DISEASE 1                    1           1
                      0.999775734
MENTAL RETARDATION, X-LINKED, SYNDROMIC 13; 1 MRXS13
                      0.846938776 0.835332334
LISSENCEPHALY, X-LINKED, 1; LISX1
                      0.999887867 0.978757966
ANDROGEN INSENSITIVITY SYNDROME; AIS
                        0.99876654
CARDIOMYOPATHY, DILATED, 3A; CMD3A0.999250281
                      0.962771922 0.975509184
ADRENOLEUKODYSTROPHY; ALD
                      0.575128953 0.540547295
MENTAL RETARDATION, X-LINKED 21; MRX21
                                  1           1
NONCOMPACTION OF LEFT VENTRICULAR MYOCARDIUM, FAMILIAL ISOLATED, X-LINKED; LVNCX
                      0.679973088
ADRENAL HYPOPLASIA, CONGENITAL; AHC  0.67237286
                        SYNDROME; 0.994627015
HOYERAAL-HREIDARSSON 0.99147791 HHS
DANON DISEASE         0.842565598 0.692615269
MOVED TO 300260       0.999887867 0.999500187
                      0.999663602 0.966387605
ECTODERMAL DYSPLASIA, HYPOHIDROTIC, WITH IMMUNE DEFICIENCY
                      0.998542274 WITH IMMUNODEFICIENCY, OSTEOPETROSIS, AND LYMPHEDEMA; OLEDA
ECTODERMAL DYSPLASIA, ANHIDROTIC, 0.965762839
                      0.994841893 0.989753842
LESCH-NYHAN SYNDROME; LNS
GOUT, HPRT-RELATED       0.9934963 0.985007496
                        0.43350527 0.460702237
CREATINE DEFICIENCY SYNDROME, X-LINKED
                      0.676609105 0.732600275
DYSERYTHROPOIETIC ANEMIA WITH THROMBOCYTOPENIA MACROTHROMBOCYTOPENIA, X-LINKED, INCLUDED
                      0.999439336   BMD
MUSCULAR DYSTROPHY, BECKER TYPE;0.995877061
                      0.793675712 0.736973635
SEVERE COMBINED IMMUNODEFICIENCY, X-LINKED; SCIDX1
                      0.117290872   EPILEPSY; XMRE
MENTAL RETARDATION, X-LINKED, WITH 0.162189179
                      0.607423189 0.552917656
MENTAL RETARDATION, X-LINKED 46; MRX46
                      0.692980489    0.67912033
HYDROXYACYL-CoA DEHYDROGENASE II DEFICIENCY
                      0.999215071   SYNDROME;
ALPHA-THALASSEMIA MYELODYSPLASIA 0.995877061 ATMDS
MOVED TO 300055       0.999887867             1
                      0.878672348 0.879295264
CORPUS CALLOSUM, AGENESIS OF, WITH MENTAL RETARDATION, OCULAR COLOBOMA, AND MICROGNATHIA
                      0.861332287    0.81650631
CONTIGUOUS ABCD1/DXS1375E DELETION SYNDROME
                          0.31307468  CEREBELLAR
MENTAL RETARDATION, X-LINKED, WITH 0.293853073 HYPOPLASIA AND DISTINCTIVE FACIAL APPEARANCE
                        0.698026463 0.650381107
EPILEPSY, X-LINKED, WITH VARIABLE LEARNING DISABILITIES AND BEHAVIOR DISORDERS
                        0.994505495
AUTISM, X-LINKED, SUSCEPTIBILITY TO, 20.99362739
                        0.998542274 0.998875422
AUTISM, X-LINKED, SUSCEPTIBILITY TO, 3
                        0.995738955 0.994127202
ASPERGER SYNDROME, X-LINKED, SUSCEPTIBILITY TO, 2
                        I; OA1
ALBINISM, OCULAR, TYPE 0.140838753 0.195176809
                        0.429804889 0.488566787
OVARIAN DYSGENESIS 2; ODG2
                        0.363310159 0.311133325
PREMATURE OVARIAN FAILURE 2A; POF2A
                        0.999215071 0.960389854
WISKOTT-ALDRICH SYNDROME; WAS
                        0.999102938 0.996251406
ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, NONDELETION TYPE, X-LINKED; ATRX
                        X-LINKED
ANEMIA, SIDEROBLASTIC, 0.283135232 0.270648507
FABRY DISEASE           0.007064364             0
                        0.997533079
CARDIOMYOPATHY, DILATED, 3B; CMD3B 0.99362739
BARTH SYNDROME; BTHS 0.999439336 0.999625141
                          0.98620767 0.985757121
CHARCOT-MARIE-TOOTH DISEASE, X-LINKED, 1; CMTX1
                        0.032406369             0
CHONDRODYSPLASIA PUNCTATA 2, X-LINKED DOMINANT; CDPX2
CHOROIDEREMIA; CHM 0.689280108 0.717855804
MASA SYNDROME           0.999102938 0.992252905
                        0.754541377 0.726477571
COFFIN-LOWRY SYNDROME; CLS
                        0.539022202 0.555041859
COLORBLINDNESS, PARTIAL, DEUTAN SERIES; CBD
                        0.523435748    0.53185907
COLORBLINDNESS, PARTIAL, PROTAN SERIES; CBP
                        0.998542274 0.991503186
CORPUS CALLOSUM, PARTIAL AGENESIS OF, X-LINKED
                        0.488898856 0.452455329
CRANIOFRONTONASAL SYNDROME; CFNS
CUTIS LAXA, X-LINKED    0.997420946 0.979510245
                        0.539470733 0.489691366
DEAFNESS, X-LINKED 2; DFNX2
                        0.986656201
MOHR-TRANEBJAERG SYNDROME; MTS 0.983881045
                          POLYENDOCRINOPATHY,
IMMUNODYSREGULATION,0.088921283 0.090591028 AND ENTEROPATHY, X-LINKED; IPEX
                          0.85075129 0.850306135
DIABETES INSIPIDUS, NEPHROGENIC, X-LINKED
                        0.985310608 0.990878421
DYSKERATOSIS CONGENITA, X-LINKED; DKC
                         1; ED1
ECTODERMAL DYSPLASIA 0.893698139       0.89941272
                        0.994505495    0.99800075
EXUDATIVE VITREORETINOPATHY, FAMILIAL, X-LINKED RECESSIVE; EVR2
FACIOGENITAL DYSPLASIA 0.23357255 0.210795952
                        0.970957614 0.967637136
GONADAL DYSGENESIS, XY FEMALE TYPE; GDXY
                        0.506391568 0.474696989
GRANULOMATOUS DISEASE, CHRONIC, X-LINKED; CGD
HEMOPHILIA A            0.999663602 0.976758715
HEMOPHILIA B; HEMB      0.907266203 0.898663001
                        1, X-LINKED; 0.467449706
HETEROTAXY, VISCERAL, 0.470172684 HTX1
                        0.999551469   STENOSIS OF
HYDROCEPHALUS DUE TO CONGENITAL 0.994751968 AQUEDUCT OF SYLVIUS; HSAS
                          0.91522763 0.903286268
HYPOPHOSPHATEMIC RICKETS, X-LINKED DOMINANT
                        0.850414891    0.83618643
IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 1; HIGM1
                        0.479479704 0.416843684
LYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 1; XLP1
                        0.996972415 0.946145196
INCONTINENTIA PIGMENTI; IP
INFERTILE MALE SYNDROME            1 0.985880295
                        0.295245571 0.323128827
KALLMANN SYNDROME 1; KAL1
                          0.39863198 0.393477446
LOWE OCULOCEREBRORENAL SYNDROME; OCRL
MENKES DISEASE          0.997869477 0.973634887
                         1; RENS1
RENPENNING SYNDROME 0.626597892 0.575034362
                        0.814308141 0.779457703
MENTAL RETARDATION, X-LINKED 3; MRX3
                        0.999663602 0.998625515
MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED, 1; MRXHF1
                        0.999215071
MUSCULAR DYSTROPHY, DUCHENNE TYPE; DMD 0.98687992
                        0.575689617 0.530675997
EMERY-DREIFUSS MUSCULAR DYSTROPHY, X-LINKED; EDMD
                         1; MTM1
MYOTUBULAR MYOPATHY0.025454138                  0
                                  1             1
NEPHROLITHIASIS, X-LINKED RECESSIVE, WITH RENAL FAILURE; XRN
NORRIE DISEASE; ND      0.991702175 0.999250375
                        ATROPHY WITH DEMENTIA
OPTICOACOUSTIC NERVE 0.987553263 0.983633183
                        0.122000449 0.123578658
ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERAMMONEMIA DUE TO
                        X-LINKED
PROPERDIN DEFICIENCY, 0.638596098 0.567537174
                         0.99876654 0.987254779
PELIZAEUS-MERZBACHER DISEASE; PMD
REIFENSTEIN SYNDROME              1 0.990003749
                         X-LINKED; RP2 0.18805448 INCLUDED; RP2, INCLUDED
RETINITIS PIGMENTOSA 2,0.187822382     RP2 GENE,
                        0.013455932
RETINOSCHISIS 1, X-LINKED, JUVENILE; RS1        0
RETT SYNDROME; RTT      0.999102938             1
                        0.400986768 0.381856804
SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1; SGBS1
                        0.998205876
SPASTIC PARAPLEGIA 2, X-LINKED; SPG2 0.98887917
                        0.999775734 0.952517806
SPINAL AND BULBAR MUSCULAR ATROPHY, X-LINKED 1; SMAX1
                        0.432608208 0.437585905
SPONDYLOEPIPHYSEAL DYSPLASIA TARDA, X-LINKED; SEDT
THROMBOCYTOPENIA 1; THC10.997084548 0.962518741
                        0.076698811 0.082219168
THYROXINE-BINDING GLOBULIN OF SERUM; TBG
                         0.23635412 0.287767087
SPERMATOGENIC FAILURE, NONOBSTRUCTIVE, Y-LINKED
GONADOBLASTOMA; GBY 0.306795246 0.390353617
                        0.042722584
DEAFNESS, AMINOGLYCOSIDE-INDUCED0.047357241
FATAL FAMILIAL INSOMNIA; FFI      1 0.999375234
                         0.09284593 0.121954267
SPLIT-HAND/FOOT MALFORMATION 3; SHFM3
                         0.89037793 0.910221167
DEAFNESS, AUTOSOMAL DOMINANT NONSYNDROMIC SENSORINEURAL 2; DFNA2
                        0.990244449 0.985005623
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE; PARK2
                        0.878223817
WARBURG MICRO SYNDROME; WARBM 0.883918531
                        0.995851088 0.924903161
RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 3; RCDP3
                         0.99596322 0.992752718
HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 2; HSCR2
                        0.722919937 0.643508684
VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL; VMCM
                        0.393922404
DYSLEXIA, SUSCEPTIBILITY TO, 2; DYX2 0.417593402
                        0.997869477 0.998375609
EPIPHYSEAL DYSPLASIA, MULTIPLE, 2; EDM2
                                  1 0.999875047
MACROTHROMBOCYTOPENIA AND PROGRESSIVE SENSORINEURAL DEAFNESS
                        0.759699484 0.744970636
SPINOCEREBELLAR ATAXIA 5; SCA5
                        0.999719637 0.983631138
FRONTOTEMPORAL DEMENTIA; FTD
                        0.999887867 0.999250375
TIBIAL MUSCULAR DYSTROPHY, TARDIVE
                        0.617627271 0.590528552
OSLER-RENDU-WEBER SYNDROME 2; ORW2
                         0.99876654    0.97375984
MATURITY-ONSET DIABETES OF THE YOUNG, TYPE III; MODY3
ABCD SYNDROME           0.993384167 0.992628686
                        0.932832474 TYPE 1
EPILEPSY, NOCTURNAL FRONTAL LOBE, 0.908034487
                        0.998430141 0.999875047
EPILEPSY, IDIOPATHIC GENERALIZED; EIG
                        0.809598565 0.835186805
FRONTOTEMPORAL DEMENTIA, CHROMOSOME 3-LINKED; FTD3
                        0.905472079 0.864675747
SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-POSITIVE, NK CELL
                         GBD1
GALLBLADDER DISEASE 1;0.999887867               1
                        TO
ASTHMA, SUSCEPTIBILITY0.846602377 0.863176309
                        0.744000897 0.791953018
RETINITIS PIGMENTOSA 17; RP17
                        0.998654407 0.998500562
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, WITH WOLFF-PARKINSON-WHITE SYNDROME
                        0.015586454             0
CATARACT, CONGENITAL ZONULAR, WITH SUTURAL OPACITIES; CCZS
                        0.697129401 0.733225041
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B; CMT2B
                        0.947633999 0.937148569
HYPERFERRITINEMIA-CATARACT SYNDROME
                        0.606301861 0.620892165
PROPROTEIN CONVERTASE 1 DEFICIENCY
                        0.998990692 0.999875047
PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC; NEPPK
                        0.916909621 0.901536924
EPIPHYSEAL DYSPLASIA, MULTIPLE, 3; EDM3 EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH MYOPATHY, INCLUDED
                        0.942139493    0.91690616
NEPHROTIC SYNDROME, STEROID-RESISTANT, AUTOSOMAL RECESSIVE; SRN1
                        0.999439336 0.999250281
ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 2; ARVD2
                      0.999775734 0.999875047
EPIDERMOLYSIS BULLOSA SIMPLEX, AUTOSOMAL RECESSIVE
BRODY MYOPATHY          0.59934963    0.64175934
                       ID; USH1D
USHER SYNDROME, TYPE 0.999439336 0.999500187
                      0.999887867              1
DEAFNESS, CHILDHOOD-ONSET NEUROSENSORY, AUTOSOMAL RECESSIVE 8; DFNB8
                      0.287172012     0.30138698
CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1C; CMT1C
                                  1 1; PSNP1
SUPRANUCLEAR PALSY, PROGRESSIVE, 0.999875047
BRUGADA SYNDROME 1                1            1
                      0.999663602
CARDIOMYOPATHY, DILATED, 1E; CMD1E0.999875047
NAXOS DISEASE         0.913433505 0.888541797
                      0.833576315 0.852992628
POTOCKI-SHAFFER SYNDROME
                      0.998990805 0.995001874
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2F; LGMD2F
                        0.99674815 0.958140697
POLYCYSTIC KIDNEY DISEASE 1; PKD1 POLYCYSTIN 1, INCLUDED
                      0.915115497     4B1; CMT4B1
CHARCOT-MARIE-TOOTH DISEASE, TYPE0.901162064
                      0.998990805     DFNB12
DEAFNESS, AUTOSOMAL RECESSIVE 12; 0.999250281
                      0.860843238 0.881794327
PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY
                      0.999775734 0.999875047
DIABETES MELLITUS, TRANSIENT NEONATAL, 1
                      0.490132317 0.485193053
RETINITIS PIGMENTOSA 18; RP18
                      0.970954357 0.941466767
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
                      0.439896838     4D; CMT4D
CHARCOT-MARIE-TOOTH DISEASE, TYPE0.492065475
                      0.988392957 0.994876921
SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CEL
                        CONGENITAL, SLOW-CHANNEL; SCCMS
MYASTHENIC SYNDROME,0.998691491 0.999833417
                      0.999102938 0.999500187
PROSTATE CANCER, HEREDITARY, 1; HPC1
                      0.993775934 PBD
PEROXISOME BIOGENESIS DISORDERS; 0.993190905
                      0.999495346 0.998063226
DEAFNESS, AUTOSOMAL DOMINANT NONSYNDROMIC SENSORINEURAL 3; DFNA3
                                  1
CATARACT, CONGENITAL, CERULEAN TYPE, 2; CCA2   1
                      0.646333259 0.628889167
HYPOTRICHOSIS, CONGENITAL, WITH JUVENILE MACULAR DYSTROPHY; HJMD
STUVE-WIEDEMANN SYNDROME0.64151155 0.614894415
                        TYPE 1; IRID1
IRIDOGONIODYSGENESIS,0.996860283 0.999000375
                      0.626138658 0.639550281
OBESITY LEANNESS, INCLUDED
                       PHOTOSENSITIVE; TTDP ICHTHYOSIFORM ERYTHRODERMA WITH HAIR ABNORMALITY A
TRICHOTHIODYSTROPHY, 0.840623598 0.804323379
                      0.413545638 0.428339373
BARTTER SYNDROME, ANTENATAL, TYPE 1
                      0.791769455
ARTHROGRYPOSIS, DISTAL, TYPE 2B; DA2B  0.7335999
                      0.984301413 0.950518556
YEMENITE DEAF-BLIND HYPOPIGMENTATION SYNDROME
                      0.999887867
RETINITIS PIGMENTOSA 19; RP19                  1
                      0.994841893 0.985630389
CONE-ROD DYSTROPHY 6; CORD6
                      0.989123122 0.994377109
EXUDATIVE VITREORETINOPATHY 4; EVR4
                      0.786947746 0.825565413
PHOSPHOGLYCERATE DEHYDROGENASE DEFICIENCY
                                  1            1
HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 2; HHF2
                                  1            1
CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 2; PFIC2
                      0.747112257 0.701237036
AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME; ALPS
                                  1            1
BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 1; BMND1
                      0.911863647 0.858303136
CATARACT, ZONULAR PULVERULENT 3; CZP3
                        0.99798161 0.998500562
MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 5
                      0.973873066 0.981381982
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2G; LGMD2G
                      0.114936084 0.108459328
HYPOMAGNESEMIA WITH SECONDARY HYPOCALCEMIA; HOMG
                      0.807243777 0.719355242
ECTODERMAL DYSPLASIA, PURE HAIR-NAIL TYPE
                      0.520296031 0.496313882
FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 2; CFEOM2
                      0.872490748 0.840997126
PAGET DISEASE OF BONE; PDB
CORNEAL DYSTROPHY OF BOWMAN 1                  1
                                  LAYER, TYPE II; CDB2
                      0.904350751 0.891429285
NEPHRONOPHTHISIS 2; NPHP2
CONE DYSTROPHY 3; COD30.96187486 0.912282894
                      0.999887867              1
CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3; PFIC3
                       0.996972415 0.933275022
HEMOCHROMATOSIS, JUVENILE; JH
DESMOSTEROLOSIS        0.615833146 0.656628764
                       0.991253644 0.988004498
SEVERE COMBINED IMMUNODEFICIENCY WITH SENSITIVITY TO IONIZING RADIATION
                       0.163938103 0.190553542
ENCEPHALOPATHY, ETHYLMALONIC
                        0.78223817 0.906660002
OSSIFICATION OF THE POSTERIOR LONGITUDINAL LIGAMENT OF SPINE; OPLL
                       0.999887867
MIGRAINE, FAMILIAL HEMIPLEGIC, 2; FHM2         1
                                  1            1
HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3; HHF3
                       0.515586454 0.533300012
RENAL TUBULAR ACIDOSIS, DISTAL, AUTOSOMAL RECESSIVE; RTADR
                       0.045974434             0
ACROMESOMELIC DYSPLASIA, MAROTEAUX TYPE; AMDM ST. HELENA DYSPLASIA, INCLUDED
                       0.660461987 0.589205397
ENDPLATE ACETYLCHOLINESTERASE DEFICIENCY; EAD
                       0.508859482 0.499875047
MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOPATHY SYNDROME; MNGIE
HUNTINGTON DISEASE-LIKE 1; HDL1 1              1
                        0.93148688 0.907659628
FOCAL SEGMENTAL GLOMERULOSCLEROSIS 1; FSGS1
                       0.999215071 0.987754592
HYPERTHYROIDISM, FAMILIAL GESTATIONAL
                       0.555729984 0.503623188
CEREBRAL PALSY, SPASTIC, SYMMETRIC, AUTOSOMAL RECESSIVE
                       0.051805338
SPINOCEREBELLAR ATAXIA 10; SCA10      0.05447957
                       0.217873963 0.247657129
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4; FHL4
                       0.599461763 0.552223888
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2; FHL2
OMENN SYNDROME         0.994579034 0.990171581
                       0.998542274 0.998375609
DEAFNESS, AUTOSOMAL DOMINANT NONSYNDROMIC SENSORINEURAL 17; DFNA17 COCHLEOSACCULAR DEGENE
                       0.685916125 0.658003249
CONE-ROD DYSTROPHY 7; CORD7
                       0.999775734 0.997251031
HEREDITARY MYOPATHY WITH EARLY RESPIRATORY FAILURE; HMERF
                       0.010989011             0
HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT, 3; HCHOLA3
                       0.861852433 0.837331334
HYPERCHOLESTEROLEMIA, AUTOSOMAL RECESSIVE; ARH
                                  1            1
VENTRICULAR FIBRILLATION, PAROXYSMAL FAMILIAL; VF
LONG QT SYNDROME 3; LQT3          1            1
                                  1
MEDULLARY CYSTIC KIDNEY DISEASE 2; MCKD2       1
                        WITH VANISHING WHITE MATTER; VWM
LEUKOENCEPHALOPATHY0.324321292 0.294689491
SICKLE CELL ANEMIA      0.57826867 0.532175434
                       0.999327203
INTERVERTEBRAL DISC DISEASE; IDD 0.998875562
CERVICAL CANCER        0.996636017 0.998500562
                       0.665956492 0.636886168
MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS; MLC
                       0.991869463 0.961701862
HYPOALPHALIPOPROTEINEMIA, PRIMARY
                       0.999775734
CONE-ROD DYSTROPHY 3; CORD3                    1
EPIDERMOLYSIS BULLOSA PRURIGINOSA 1            1
                       0.999215071 0.998375609
CARDIOMYOPATHY, DILATED, 1G; CMD1G
                       0.995570259 0.984507746
NONCOMPACTION OF LEFT VENTRICULAR MYOCARDIUM, FAMILIAL ISOLATED, AUTOSOMAL DOMINANT 1; LVNC1
                       0.681991478 0.725103086
ENCEPHALOPATHY, FAMILIAL, WITH NEUROSERPIN INCLUSION BODIES; FENIB
                       0.763488503 0.763493253
CATARACT, AUTOSOMAL DOMINANT
PETERS ANOMALY         0.996075353 0.996876562
                       0.997196681    0.99362739
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS; GEFS+
                       0.956156089 0.912032988
HEMOCHROMATOSIS, TYPE 3; HFE3
ATPAF2 DEFICIENCY      0.346490244 0.388729227
MOVED TO 137920        0.999887867 0.999500187
                       0.987104732 0.907909534
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2E; LGMD2E
ACERULOPLASMINEMIA 0.905584212 0.900662252
                       0.999775734 0.997126078
ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3; EEC3
CATARACT, COPPOCK-LIKE; CCL       1 0.999937531
                       0.278874187 0.403098838
SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 1; DSMA1
                       SYNDROME, 0.529735132
ADVANCED SLEEP-PHASE 0.536727599 FAMILIAL
                       0.902780893 0.915281769
LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3; FPLD3
                       0.997308814 0.995126827
OVARIAN CANCER, EPITHELIAL
                        0.971069747 0.911033362
NEPHRONOPHTHISIS 3; NPHP3
                        0.927562234 0.872172935
ATAXIA-TELANGIECTASIA-LIKE DISORDER; ATLD
                        0.980040368 0.995126827
LEBER CONGENITAL AMAUROSIS, TYPE IV; LCA4
                        0.895716528 0.894414595
PYOGENIC STERILE ARTHRITIS, PYODERMA GANGRENOSUM, AND ACNE
                        0.924086118 0.909034112
AMEGAKARYOCYTIC THROMBOCYTOPENIA, CONGENITAL; CAMT
                         0.97039695 0.913157566
ECTODERMAL DYSPLASIA/SKIN FRAGILITY SYNDROME
                         0.97768558 0.926786607
TOOTH AGENESIS, SELECTIVE, 3; STHAG3
ORTHOSTATIC INTOLERANCE  0.40065037 0.505060602
                        0.992599237
CRANIOSYNOSTOSIS, TYPE 2; CRS2       0.94751968
                        0.993944831
CARDIOMYOPATHY, DILATED, 1I; CMD1I 0.983506185
                        0.856229674 0.810571036
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1; CPVT1
                        0.998430141 0.994876921
OSTEOARTHRITIS WITH MILD CHONDRODYSPLASIA
SCHIZOPHRENIA 9; SCZD90.797970169 0.889069332
                        0.983180085
LYMPHOMA, NON-HODGKIN, FAMILIAL 0.990878421
                         0.84671451
RENAL CELL CARCINOMA, PAPILLARY 0.816443834
                        0.991926441 0.977136432
HYPERTENSION, EARLY-ONSET, AUTOSOMAL DOMINANT, WITH SEVERE EXACERBATION IN PREGNANCY
                        0.998990805 0.997875797
DEAFNESS, AUTOSOMAL DOMINANT 23; DFNA23
SEBASTIAN SYNDROME; SBS 0.999887867 0.999500187
                        0.999775684 0.999958354
NEUROPATHY, CONGENITAL HYPOMYELINATING
                        0.422740525 0.412470324
IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 2
                        AUTOSOMAL      0.8469324
SPASTIC PARAPLEGIA 13, 0.847835838 DOMINANT; SPG13
                        0.999551469 0.997126078
SPLIT-HAND/FOOT MALFORMATION 4; SHFM4
                        0.999775734 0.999750094
DEAFNESS, CONGENITAL NEUROSENSORY, AUTOSOMAL RECESSIVE 10; DFNB10
                        0.875869029 0.867799575
NEMALINE MYOPATHY 5; NEM5
                        0.864992151
SPINOCEREBELLAR ATAXIA 14; SCA14 0.876421342
                        0.952119309 TYPE 3
EPILEPSY, NOCTURNAL FRONTAL LOBE, 0.913418291
                        0.764745459 0.794327127
SEGAWA SYNDROME, AUTOSOMAL RECESSIVE
                        MULTIPLE BASAL CELL CARCINOMA CAUSED BY SOMATIC MUTATION, INCLUDED
BASAL CELL CARCINOMA, 0.998934619 0.991316842
                        0.999887867
CHOLESTASIS, BENIGN RECURRENT INTRAHEPATIC 2   1
                        0.999439336 0.996376359
CARDIOMYOPATHY, DILATED, WITH WOOLLY HAIR AND KERATODERMA
                        0.865328549
DERMATITIS, ATOPIC, 4; ATOD4         0.81194552
LEIOMYOMATOSIS AND RENAL CELL 1                1
                                  CANCER, HEREDITARY
                        0.112201413 0.127514682
GLYCINE ENCEPHALOPATHY; GCE
TRANSALDOLASE DEFICIENCY0.292554384 0.377358491
PROPIONIC ACIDEMIA      0.017046092            0
                        0.995290424 0.930276146
HEMOCHROMATOSIS, TYPE 4; HFE4
                        0.999775734 0.998875422
RIPPLING MUSCLE DISEASE; RMD RIPPLING MUSCLE DISEASE 2, INCLUDED; RMD2, INCLUDED
                         ADULT-ONSET
BASAL GANGLIA DISEASE,0.942363759 0.933275022
                        0.999551419 0.999562664
DIABETES MELLITUS, PERMANENT NEONATAL; PNDM
                        0.270127831 0.260777209
CHROMOSOME 22q13.3 DELETION SYNDROME
                        0.976003588 0.996626687
PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET; PARK7
                        0.998990805 0.997375984
DEAFNESS, AUTOSOMAL DOMINANT NONSYNDROMIC SENSORINEURAL 22; DFNA22 DEAFNESS, SENSORINEURAL,
                                  1
PRIMARY LATERAL SCLEROSIS, JUVENILE; PLSJ      1
                        0.679860955 0.600774709
INTERLEUKIN 2 RECEPTOR, ALPHA, DEFICIENCY OF
                        0.999327203 0.999250375
MATURITY-ONSET DIABETES OF THE YOUNG, TYPE IV; MODY4
                        0.973088136 0.948394352
MATURITY-ONSET DIABETES OF THE YOUNG, TYPE VI; MODY6
                        0.118972864 0.089966263
EHLERS-DANLOS-LIKE SYNDROME DUE TO TENASCIN-X DEFICIENCY
                         0.99674815
MYOKYMIA WITH NEONATAL EPILEPSY 0.98938031
LIG4 SYNDROME           0.371159453 0.340997126
                        0.999439336 0.996876171
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2F
                        0.041601256            0
SHORT STATURE, PITUITARY AND CEREBELLAR DEFECTS, AND SMALL SELLA TURCICA
                        0.984301413 0.970011246
NONCOMPACTION OF LEFT VENTRICULAR MYOCARDIUM WITH CONGENITAL HEART DEFECTS
                        0.999887867     0.99325253
GLAUCOMA, NORMAL TENSION, SUSCEPTIBILITY TO
                        0.533976228
GLYCINE N-METHYLTRANSFERASE DEFICIENCY  0.53479945
                        0.997533079
CARDIOMYOPATHY, DILATED, 1L; CMD1L 0.989753842
                        0.999887867 0.999750094
SPONGIFORM ENCEPHALOPATHY WITH NEUROPSYCHIATRIC FEATURES
                        0.980040368 0.938655672
LYMPHANGIOLEIOMYOMATOSIS; LAM
                        0.718658892 0.624890666
HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 6; HHF6
                        0.954137699 0.913407472
GASTROINTESTINAL STROMAL TUMOR; GIST
                         ANTERIOR     0.999500187
MYOPATHY, DISTAL, WITH0.999663602TIBIAL ONSET; DMAT
                        0.688495178 0.607647132
GLUCOSE TRANSPORT DEFECT, BLOOD-BRAIN BARRIER
                        0.607423189
BLEPHAROSPASM, BENIGN ESSENTIAL 0.562289142
FUMARASE DEFICIENCY                1             1
                        0.303655528 0.300387355
GLUCOSE/GALACTOSE MALABSORPTION; GGM
                        0.906369141 0.879795077
IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 3
ALZHEIMER DISEASE 4      0.99472976 0.951268274
                        0.914236578
EPILEPSY, JUVENILE MYOCLONIC; JME 0.90029985
                         0.99596322 0.998375609
USHER SYNDROME, TYPE IG; USH1G
                        0.999887867 OCA1B
ALBINISM, OCULOCUTANEOUS, TYPE IB; 0.999875047
                        0.999887867 0.999625141
NEPHRONOPHTHISIS 4; NPHP4
                        0.999887867 0.999375234
SENIOR-LOKEN SYNDROME 4; SLSN4
HURLER SYNDROME         0.996523884 0.994252155
HURLER-SCHEIE SYNDROME  0.997645212 0.994627015
                        0.999663602
EPIPHYSEAL DYSPLASIA, MULTIPLE, 5; EDM5          1
                        0.885848845    WITH MINIFASCICULAR NEUROPATHY GONADAL DYSGENESIS, 46,XY, PU
GONADAL DYSGENESIS, 46,XY, PARTIAL,0.884668249
                         0.33494057 0.280519805
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IId; CDG2D
                        0.235254541    DFNB30
DEAFNESS, AUTOSOMAL RECESSIVE 30; 0.201424466
CINCA SYNDROME; CINCA0.998318009 0.997751124
                                   1             1
CATARACT, SUTURAL, WITH PUNCTATE AND CERULEAN OPACITIES
                        0.749943934
SPINOCEREBELLAR ATAXIA 17; SCA17 0.693115082
                        0.985310608 0.943646133
THYROID HORMONOGENESIS, GENETIC DEFECT IN, 6
                                   1             1
SPASTIC PARALYSIS, INFANTILE-ONSET ASCENDING; IAHSP
                        0.183449204 0.159565163
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE, WITH AXONAL NEUROPATHY; SCAN1
                        0.168647679     0.17455954
SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE; SPG7
RESTING HEART RATE      0.528705988 0.489441459
                        0.938999776 0.913407472
CHOLESTERYL ESTER TRANSFER PROTEIN DEFICIENCY
                        0.978021978 0.944270898
FOCAL CORTICAL DYSPLASIA OF TAYLOR; FCDT
DYSTONIA, JUVENILE-ONSET0.885063916     0.86944028
COENZYME Q10 DEFICIENCY 0.981273828 0.932900162
LISSENCEPHALY 1; LIS1 0.992374972 0.937023616
                        0.998654407 0.995751593
ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 8; ARVD8
                        0.328661135 0.404848182
SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS; SANDO SPINOCEREBELLAR ATAXIA WI
                        0.999439336 0.999750094
BOTHNIA RETINAL DYSTROPHY
                        0.999439336 0.999625141
NEWFOUNDLAND ROD-CONE DYSTROPHY; NFRCD
                        0.659340659 0.638885418
CARDIOMYOPATHY, DILATED, 1M; CMD1M
                                   1 0.999750094
FRONTOTEMPORAL LOBAR DEGENERATION WITH UBIQUITIN-POSITIVE INCLUSIONS; FTLDU
                        0.993608432 0.983631138
CARDIOMYOPATHY, DILATED, 1N; CMD1N
TOENAIL DYSTROPHY, ISOLATED        1             1
                                   1
CORNEAL DYSTROPHY, AVELLINO TYPE; CDA            1
                        0.999102938 0.998250656
ATRIAL FIBRILLATION, FAMILIAL, 3; ATFB3
ICOS DEFICIENCY         0.011549675              0
                        0.992935636 0.946270149
BRAIN SMALL VESSEL DISEASE WITH HEMORRHAGE
                                   1             1
EPIDERMOLYSIS BULLOSA DYSTROPHICA WITH SUBCORNEAL CLEAVAGE; EBDSC
                        0.997925311 0.998438086
ICHTHYOSIS, CYCLIC, WITH EPIDERMOLYTIC HYPERKERATOSIS
                       0.999663602 0.994627015
NIEMANN-PICK DISEASE, TYPE B
                        0.90468715 0.898663001
GRISCELLI SYNDROME, TYPE 2; GS2
                       0.535994618 0.513682369
NIEMANN-PICK DISEASE, TYPE C2
                       0.999887867
OSTEOPETROSIS, AUTOSOMAL DOMINANT 1; OPTA1   1
VAN BUCHEM DISEASE, TYPE 2       1           1
                       0.828212604  0.80357366
NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VIIB; HMN7B
                                 1
KERATOSIS PALMOPLANTARIS STRIATA III         1
                       0.999663602 0.997500937
SKIN FRAGILITY-WOOLLY HAIR SYNDROME
                                 1
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2I 1
                       0.997869477 0.999750094
CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1D; CMT1D
                       0.999663602 0.996251406
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E
                       0.418133902 0.381232038
HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC; HES
                       0.999215071 0.996126453
CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1F
                                 1
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2J 1
                       0.997420946 0.998125703
SEIZURES, BENIGN FAMILIAL NEONATAL-INFANTILE
                       0.498654256 0.375249875
HYPERCHOLANEMIA, FAMILIAL; FHCA
                       0.997645212
ACROCAPITOFEMORAL DYSPLASIA; ACFD0.99325253
                       0.827313517 0.824190928
JUVENILE MYELOMONOCYTIC LEUKEMIA; JMML
                                 1           1
CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE D
                       0.999775734 0.998875422
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1C; LGMD1C
                       0.095985647 0.108709234
CRANIOLENTICULOSUTURAL DYSPLASIA; CLSD
                       0.998654407 0.997375984
DEAFNESS, CONGENITAL NEUROSENSORY, AUTOSOMAL RECESSIVE 37; DFNB37
ALZHEIMER DISEASE 3    0.997420946 0.965887792
                       0.426665172 0.474197176
HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA SYNDROME
                       0.949988787  0.93639885
FOCAL SEGMENTAL GLOMERULOSCLEROSIS 3; FSGS3
                       0.321708903 0.302473763
DEAFNESS, AUTOSOMAL DOMINANT NONSYNDROMIC SENSORINEURAL, DUE TO MUTATION IN MYO1A
                       0.998318009  0.99762589
NEUTROPENIA, NONIMMUNE CHRONIC IDIOPATHIC, OF ADULTS
                       0.999663602
HAND OSTEOARTHRITIS; HOA                     1
                       0.507400763 0.517930776
MUSCULAR DYSTROPHY, CONGENITAL MEROSIN-DEFICIENT, 1A; MDC1A
                       0.925431711 0.926152693
CAUDAL DUPLICATION ANOMALY
                       0.093742992 0.101711858
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ii; CDG1I
                       0.923629023 0.910056215
DERMATOFIBROSARCOMA PROTUBERANS; DFSP
                       0.981049563 0.925278021
ATRIAL SEPTAL DEFECT 2; ASD2
GAUCHER DISEASE, PERINATAL LETHAL1           1
                       0.960305001 0.905285518
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2D; LGMD2D
                       0.348060103 0.348119455
IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 5
                       0.998654407 0.992502811
OVARIAN HYPERSTIMULATION SYNDROME
                       0
SYNPOLYDACTYLY 2; SPD2 .883045526 0.857446277
                       0.995514689 0.992627765
CONE-ROD DYSTROPHY 9; CORD9
                       0.699820588 0.690366113
NEUTROPHIL IMMUNODEFICIENCY SYNDROME
                       0.770127831 0.713232538
LEUKEMIA, CHRONIC MYELOID; CML
                       0.972078941 0.976761619
HERMANSKY-PUDLAK SYNDROME 2; HPS2
                       0.701614712 0.641884293
CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 1; ADCAD1
                       0.481385961 0.596276396
CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE C
                       0.999887867 0.997001125
WEILL-MARCHESANI SYNDROME, AUTOSOMAL DOMINANT
                                 1  0.99562664
CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION
PARKES WEBER SYNDROME            1 0.996376359
                       0.997308814
MYOPATHY, MYOSIN STORAGE                     1
                       0.999215071 0.998750469
BRANCHIOOTIC SYNDROME 3; BOS3
                                 1
MYOTONIA, POTASSIUM-AGGRAVATED 0.999750094
                       0.999327203 0.989378983
PLATELET GLYCOPROTEIN IV DEFICIENCY
                       0.087799955 0.076596276
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 3; MRT3
                       0.999439336 0.999250281
COLORECTAL ADENOMATOUS POLYPOSIS, AUTOSOMAL RECESSIVE
CORNEAL DYSTROPHY OF BOWMAN 1                  1
                                  LAYER, TYPE I; CDB1
                       0.522762951
MAJOR DEPRESSIVE DISORDER; MDD 0.480569786
                       0.293675712   TO
LEGIONNAIRE DISEASE, SUSCEPTIBILITY0.184055979
                       0.147790985    0.10458578
MYOCARDIAL INFARCTION, SUSCEPTIBILITY TO, 2
MOVED TO 204650                   1 0.999875047
                                  1            1
SICK SINUS SYNDROME 1, AUTOSOMAL RECESSIVE; SSS1
                       0.798721686 0.745595402
CARDIOMYOPATHY, DILATED, 1O; CMD1O
                       0.442924423 0.454329626
RIBOSE 5-PHOSPHATE ISOMERASE DEFICIENCY
                       0.998093743 0.997750843
OLIGODONTIA-COLORECTAL CANCER SYNDROME
                       0.570643642 0.580282394
HYPERTENSION, DIASTOLIC, RESISTANCE TO
MOVED TO 276300        0.996860283 0.999000375
                       0.187037452 0.203423716
AMYOTROPHIC LATERAL SCLEROSIS 8; ALS8
                       0.999663602 0.996876171
NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIB; HMN2B
                       0.016932048             0
DEAFNESS, AUTOSOMAL DOMINANT NONSYNDROMIC SENSORINEURAL 28; DFNA28
                       0.793451447 0.773334999
NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V; HSAN5
                       0.028145324
AICAR TRANSFORMYLASE/IMP CYCLOHYDROLASE, 0      DEFICIENCY OF
                       0.265418255 0.310008747
BARRAQUER-SIMONS SYNDROME
                         0.99876654 0.999250375
MICROCEPHALY, PRIMARY AUTOSOMAL RECESSIVE, 5; MCPH5
                       0.999663602             1
SPONDYLOEPIMETAPHYSEAL DYSPLASIA, MATRILIN-3 RELATED
                       0.991590043 0.998750469
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 8; CMH8
                       0.994954026    0.99762589
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 10; CMH10 CARDIOMYOPATHY, HYPERTROPHIC, MID-LEFT VENTRIC
                       0.402108096 0.372063968
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Il; CDG1L
                       0.594303656 0.573659878
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIe; CDG2E
                       0.211706661    0.30101212
PYRUVATE DEHYDROGENASE PHOSPHATASE DEFICIENCY
                       0.040816327             0
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ie; CDG1E
                                  1 0.998375609
AVASCULAR NECROSIS OF FEMORAL HEAD, PRIMARY
                                  1 0.999000375
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J; LGMD2J
                       0.088472752 0.084343371
TRANSPOSITION OF THE GREAT ARTERIES, DEXTRO-LOOPED 1; DTGA1
                       0.974097331 0.941904048
ALPHA-B CRYSTALLINOPATHY
OROFACIAL CLEFT 5                 1            1
                       0.819354115 0.935149319
MACULAR DEGENERATION, AGE-RELATED, 3; ARMD3
                       0.865216416 0.832062976
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 3; FHL3
                        CONGENITAL, FAST-CHANNEL
MYASTHENIC SYNDROME,0.996803858 0.999687617
                        CONGENITAL, ASSOCIATED
MYASTHENIC SYNDROME,0.968184537 0.968386855 WITH ACETYLCHOLINE RECEPTOR DEFICIENCY
                       0
CD8 DEFICIENCY, FAMILIAL .900201839 0.884918156
                       0.879275541 0.866112708
SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-POSITIVE, NK CELL
                       0.997869477
PREMATURE OVARIAN FAILURE 3; POF3 0.996376359
                        DEFICIENCY
TRIFUNCTIONAL PROTEIN 0.738057861 0.667499688
           MINProp CIPHER SP
Mean_ROC    0.8051992 0.733473
Std_ROC     0.2878942 0.295989

Phenotype   ROC        ROC
             0.9997757
ACHONDROPLASIA; ACH 0.751514
             0.9992151 0.920946
NEUROFIBROMATOSIS, TYPE II; NF2
              0.998318 0.414779
SAETHRE-CHOTZEN SYNDROME; SCS
             0.9974209 0.558085
ACROKERATOSIS VERRUCIFORMIS; AKV
              0.428235 0.938439
SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CEL
             0.9977573 0.229872
ADENOSINE TRIPHOSPHATE, ELEVATED, OF ERYTHROCYTES
             0.9998879 0.100471
ADULT SYNDROME
             0.9998318 SENSORINEURAL DEAFNESS
ALBINISM, OCULAR, WITH 0.618257
             0.9992151 0.13355
TIETZ SYNDROME
             0.9821128 0.753561
GLUCOCORTICOID-REMEDIABLE ALDOSTERONISM; GRA
             HEMIPLEGIA OF CHILDHOOD
ALTERNATING 0.9997757 0.921843
             0.9518896
ALZHEIMER DISEASE; AD 0.93075
             0.9258802 0.999776
ALZHEIMER DISEASE 2
                      1 0.779435
AMELOGENESIS IMPERFECTA, TYPE IB; AI1B
             V
AMYLOIDOSIS 0.8510877 0.979255
AMYLOIDOSIS VI0.799843 0.341781
              FAMILIAL 0.498542
AMYLOIDOSIS,0.9047779 VISCERAL
             VII
AMYLOIDOSIS 0.8346042 0.781565
              LATERAL 0.781709
AMYOTROPHIC 0.746944 SCLEROSIS 1; ALS1
             0.4844135 0.830904
DIAMOND-BLACKFAN ANEMIA; DBA
             0.8200628 0.514074
ANGELMAN SYNDROME; AS
             HEREDITARY; HAE
ANGIOEDEMA, 0.8007401 0.647567
             0.9996636 0.305001
ANKYLOBLEPHARON-ECTODERMAL DEFECTS-CLEFT LIP/PALATE
             0.9998879 0.994954
TOOTH AGENESIS, SELECTIVE, 1; STHAG1
             0.9779098 0.957277
ANTITHROMBIN III DEFICIENCY
             0.9711819 0.678403
TOWNES-BROCKS SYNDROME; TBS
             0.7298722 0.617067
ARTHROGRYPOSIS, DISTAL, TYPE 1; DA1
                      TYPE I; STL1
STICKLER SYNDROME, 1 0.880803
             0.9995515 0.96479
ATRIAL STANDSTILL
             0.9976452 0.999776
ATRIAL SEPTAL DEFECT WITH ATRIOVENTRICULAR CONDUCTION DEFECTS
             0.9934963 0.747141
BASAL CELL NEVUS SYNDROME; BCNS
             0.9965605
BLADDER CANCER             0.8075
             0.9987665 0.889998
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS; BPES
             0.9978695 0.71765
BRACHYDACTYLY, TYPE A1; BDA1
             0.9271137 0.997085
BRACHYDACTYLY, TYPE A2; BDA2
             0.9912536 0.991142
BRACHYDACTYLY, TYPE B1; BDB1
             0.9998879 0.986544
BRACHYDACTYLY, TYPE C; BDC
             0.9354604 0.769261
BRANCHIOOTORENAL SYNDROME 1; BOR1
             0.9837407
BREAST CANCER 1 GENE; BRCA11
             0.9981496 0.997981
BULLOUS ERYTHRODERMA ICHTHYOSIFORMIS CONGENITA OF BROCQ
                      1 0.950325
PROGRESSIVE FAMILIAL HEART BLOCK, TYPE IA; PFHB1A
             0.6020408
CAMPOMELIC DYSPLASIA 0.959856
BREAST CANCER0.9472291 0.905789
                0.99843 0.826848
COLORECTAL CANCER; CRC
             0.6475833 0.718291
HEPATOCELLULAR CARCINOMA
             0.9094426 0.519738
CARDIOFACIOCUTANEOUS SYNDROME
             0.9922628 0.677843
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 3; CMH3
             0.9143306 0.961763
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 4; CMH4
             0.8944968 0.830866
CARDIOMYOPATHY, DILATED, 1A; CMD1A
             0.8797937 0.981834
CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1; RCM1
             0.8196905 0.999215
CATARACT, ZONULAR PULVERULENT 1; CZP1
             0.2756223 0.865553
CEREBRAL CAVERNOUS MALFORMATIONS; CCM
             0.7193317 0.998206
LEUKOCYTE ADHESION DEFICIENCY, TYPE I; LAD
             0.9931599 0.944943
CENTRAL CORE DISEASE OF MUSCLE
             0.1581072 0.907939
SPINOCEREBELLAR ATAXIA, 16q22-LINKED
             0.9989908 0.93373
DEMENTIA, FAMILIAL DANISH; FDD
             0.9976452 0.611124
SOTOS SYNDROME
             0.9996075 0.678479
CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1B; CMT1B
             0.9998879        1
CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1A; CMT1A
             0.9998879        1
CHARCOT-MARIE-TOOTH DISEASE AND DEAFNESS
CHERUBISM 0.5047096 0.80915
             0.9659116 0.522875
ALAGILLE SYNDROME 1; ALGS1
             0.7712492 0.795358
CHOREA, BENIGN HEREDITARY; BHC
              0.809935 0.88641
CLEIDOCRANIAL DYSPLASIA; CCD
             0.9994393 0.989235
FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 1; FCAS1
             0.9984301 0.89695
COLOBOMA, OCULAR
             0.8552366 0.950998
PAPILLORENAL SYNDROME
             0.9968603 0.95739
LYNCH SYNDROME I
              0.821821 0.422853
COMPLEMENT COMPONENT 4, PARTIAL DEFICIENCY OF
             COMPONENT 5; C5
COMPLEMENT 0.9660238 0.993384
             COMPONENT 8 DEFICIENCY, TYPE I
COMPLEMENT 0.9326082          1
             COMPONENT 8 DEFICIENCY, TYPE II
COMPLEMENT 0.9672572          1
              0.983068 0.993721
CONE-ROD DYSTROPHY 2; CORD2
              0.891904 0.99843
CONTRACTURAL ARACHNODACTYLY, CONGENITAL
             0.9977573 0.999888
EPILEPSY, BENIGN NEONATAL, 1; EBN1
             0.9378784 0.999439
EPILEPSY, BENIGN NEONATAL, 2; EBN2
             0.0982283 0.818906
CORNEAL FLECK DYSTROPHY
                     1 0.968379
GROENOUW TYPE I CORNEAL DYSTROPHY; CDGG1
             0.9998879 0.215295
CORNEAL DYSTROPHY, POSTERIOR POLYMORPHOUS, 1; PPCD1
                     1 0.955595
CORNEAL DYSTROPHY, LATTICE TYPE I; CDL1
             0.9986544 0.902781
CRANIOFACIAL-DEAFNESS-HAND SYNDROME; CDHS
             0.9998879 0.997533
CREATINE PHOSPHOKINASE, ELEVATED SERUM
                     1 0.920946
CREUTZFELDT-JAKOB DISEASE; CJD
             0.9998879 0.651043
CROUZON SYNDROME
             0.9817224 0.14039
CUTIS LAXA, AUTOSOMAL DOMINANT
             0.9965239 0.392353
DARIER-WHITE DISEASE; DAR
                     1 WITH KERATOPACHYDERMIA AND CONSTRICTIONS OF FINGERS AND TOES
DEAFNESS, CONGENITAL,0.980937
             0.6372505 0.626934
DEAFNESS, AUTOSOMAL DOMINANT NONSYNDROMIC SENSORINEURAL 1; DFNA1
             0.8421171 0.968491
CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPAT
             0.9995515 0.541826
DENTATORUBRAL-PALLIDOLUYSIAN ATROPHY; DRPLA
             0.8388652 0.765867
DIABETES INSIPIDUS, NEUROHYPOPHYSEAL TYPE
             0.0379009 0.042274
DIABETES INSIPIDUS, NEPHROGENIC, AUTOSOMAL
             0.8399147 0.702401
DIABETES MELLITUS, NONINSULIN-DEPENDENT; NIDDM
             0.9190401 0.99529
DOYNE HONEYCOMB RETINAL DYSTROPHY; DHRD
             0.9988787 0.306459
LERI-WEILL DYSCHONDROSTEOSIS; LWD
             0.2380579 0.465127
DYSCHROMATOSIS SYMMETRICA HEREDITARIA 1
             0.9995515 0.999439
DEMENTIA, LEWY BODY; DLB
             0.7641848 0.908836
DYSTONIA 1, TORSION, AUTOSOMAL DOMINANT; DYT1
             0.9742095 0.786836
DYSTONIA, DOPA-RESPONSIVE; DRD
             0.7198924 0.867683
DYSTONIA 12; DYT12
             DYSPLASIA
ECTODERMAL 0.9997757 3; ED3 1
             DYSPLASIA        1
ECTODERMAL 0.9978695 2, HIDROTIC; ED2
             0.9998879 0.990244
ECTOPIA LENTIS, ISOLATED
             0.9965231 0.879131
EHLERS-DANLOS SYNDROME, TYPE I
             0.9871033 0.83638
EHLERS-DANLOS SYNDROME, TYPE II
             0.9950662 0.972079
EHLERS-DANLOS SYNDROME, TYPE III
             0.9965239 0.852658
EHLERS-DANLOS SYNDROME, TYPE IV, AUTOSOMAL DOMINANT
             0.9991589 0.624257
EHLERS-DANLOS SYNDROME, TYPE VII, AUTOSOMAL DOMINANT
             0.9967478 0.921947
ELLIPTOCYTOSIS, RHESUS-UNLINKED TYPE
             0.8442862 0.756645
BECKWITH-WIEDEMANN SYNDROME; BWS
             0.9984301 0.771025
MULTIPLE ENDOCRINE NEOPLASIA, TYPE I; MEN1
             0.8481722 0.988675
CAMURATI-ENGELMANN DISEASE
                     1 0.987329
TRANSIENT BULLOUS DERMOLYSIS OF THE NEWBORN; TBDN
                     1 0.988226
EPIDERMOLYSIS BULLOSA DYSTROPHICA, PASINI TYPE
             0.9997757 0.998654
EPIDERMOLYSIS BULLOSA HERPETIFORMIS, DOWLING-MEARA TYPE
             0.9998879 0.998822
EPIDERMOLYSIS BULLOSA OF HANDS AND FEET
                     1 0.988338
EPIDERMOLYSIS BULLOSA, PRETIBIAL
             0.9998879 0.996411
EPIDERMOLYSIS BULLOSA SIMPLEX, KOEBNER TYPE; EBS2
             0.9988787 0.978807
EPIDERMOLYSIS BULLOSA SIMPLEX, OGNA TYPE
             0.9996636        1
EPIDERMOLYSIS BULLOSA SIMPLEX WITH MOTTLED PIGMENTATION; EBS-MP
                     1 0.987329
EPIDERMOLYSIS BULLOSA WITH CONGENITAL LOCALIZED ABSENCE OF SKIN AND DEFORMITY OF NAILS
             0.9987665 0.998542
EPIPHYSEAL DYSPLASIA, MULTIPLE, 1; EDM1
             0.9996636 0.884728
EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH MYOPIA AND CONDUCTIVE DEAFNESS
PILOMATRIXOMA0.9422516 0.892465
             0.6606863 0.54575
CYLINDROMATOSIS, FAMILIAL; CYLD
             0.8027585 0.860619
ERYTHROCYTOSIS, FAMILIAL, 1
             0.8997533 VARIABILIS; EKV
ERYTHROKERATODERMIA0.625589
             CANCER ESOPHAGEAL SQUAMOUS CELL CARCINOMA, INCLUDED; ESCC, INCLUDED
ESOPHAGEAL 0.9975331 0.921283
             0.6457679 0.608195
EWING SARCOMA BREAKPOINT REGION 1; EWSR1
             0.9997757 0.999776
EXOSTOSES, MULTIPLE, TYPE I
             0.9992151
EXOSTOSES, MULTIPLE, TYPE II 1
             0.7450376 0.348548
EXUDATIVE VITREORETINOPATHY 1; EVR1
             0.9994393
FACTOR VIII DEFICIENCY        1
             0.9978695 0.951671
FAMILIAL MEDITERRANEAN FEVER, AUTOSOMAL DOMINANT
             0.8580399 0.979592
FIBRODYSPLASIA OSSIFICANS PROGRESSIVA; FOP
             0.9996636 0.972752
DESMOID DISEASE, HEREDITARY
             0.7475891 0.807468
FIBROMATOSIS, GINGIVAL, 1; GINGF
             0.9994393
FISH-EYE DISEASE; FED 0.998991
FRASIER SYNDROME 1 0.852433
             0.9998879 0.518166
CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 1; FECD1
             0.9823371 RETINITIS
FUNDUS ALBIPUNCTATUS0.998262 PUNCTATA ALBESCENS, INCLUDED
             0.8862974 0.997982
FUNDUS DYSTROPHY, PSEUDOINFLAMMATORY, OF SORSBY; SFD
GASTRIC CANCER       1 0.964566
                     1 0.88013
GENITOURINARY DYSPLASIA COMPONENT OF WAGR SYNDROME; GUD
                     1 0.907827
GERSTMANN-STRAUSSLER DISEASE; GSD
             OPEN ANGLE, A; GLC1A
GLAUCOMA 1, 0.9082754 0.945279
             0.9997757 0.830343
GLAUCOMA, PRIMARY OPEN ANGLE; POAG
              0.923573
GLIOMA OF BRAIN, FAMILIAL0.4566
             AND DIABETES SYNDROME
RENAL CYSTS 0.9993272 0.943485
             0.6669657 0.23346
GLOMUVENOUS MALFORMATIONS; GVM
             0.7741646 0.604396
AROMATASE EXCESS SYNDROME; AEXS
             0.9998879 0.999888
GUILLAIN-BARRE SYNDROME, FAMILIAL; GBS
             0.9993272 0.817111
HAND-FOOT-UTERUS SYNDROME
             0.9997757
HAW RIVER SYNDROME 0.455932
             0.9990468 0.866379
HEMATURIA, BENIGN FAMILIAL; BFH
              0.929908 0.685932
HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1; HSCR1
             0.8212604 0.983516
PERIODIC FEVER, FAMILIAL, AUTOSOMAL DOMINANT
             0.9188159 0.992487
HOLT-ORAM SYNDROME; HOS
             0.9997757 HPE3
HOLOPROSENCEPHALY 3;0.696905
             0.6539583 HPE4
HOLOPROSENCEPHALY 4;0.570532
              0.828549 0.829334
HUNTINGTON DISEASE; HD
             0.8666741 0.937654
ATTENTION DEFICIT-HYPERACTIVITY DISORDER; ADHD
             0.8898856 0.994505
HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT
             0.8965015 0.999888
HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT, TYPE B
             0.7074689 0.975945
PALMOPLANTAR KERATODERMA, EPIDERMOLYTIC; EPPK
             0.7374678 1; RCC1
RENAL CELL CARCINOMA 0.746832
             0.9998879 0.401772
HYPEROSTOSIS CORTICALIS GENERALISATA, BENIGN FORM OF WORTH, WITH TORUS PALATINUS
             0.9984301 0.755663
HYPERPARATHYROIDISM 1; HRPT1
             0.5695862 0.659919
PSEUDOHYPOALDOSTERONISM, TYPE II; PHA2
             0.5660462 0.362749
HYPERTENSION, ESSENTIAL
             0.9955147 0.835165
MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 1; MHS1
             0.9996635 0.805412
HYPERTROPHIC NEUROPATHY OF DEJERINE-SOTTAS
             0.9988787 0.288518
HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE I; HHC1
             0.9996636 0.919825
HYPOCHONDROPLASIA; HCH
             0.5530447 0.667377
HYPOGONADOTROPIC HYPOGONADISM
              0.910508 0.468824
HYPOPARATHYROIDISM, FAMILIAL ISOLATED; FIH
             0.9993272 0.822382
HYPOPHOSPHATASIA, ADULT
                     CURTH-MACKLIN TYPE; IHCM
ICHTHYOSIS HYSTRIX, 1 0.998206
             0.2588024 0.56627
ICHTHYOSIS VULGARIS
             0.8021978 0.998094
ICHTHYOSIS, BULLOUS TYPE
             0.9994393 0.582642
SOLITARY MEDIAN MAXILLARY CENTRAL INCISOR; SMMCI
              INTRAHEPATIC, OF
CHOLESTASIS,0.9998879 0.999888 PREGNANCY; ICP
             0.2209015 0.389213
SMALL PATELLA SYNDROME; SPS
                     1 0.999439
KERATITIS-ICHTHYOSIS-DEAFNESS SYNDROME, AUTOSOMAL DOMINANT
                     1 0.997197
KERATODERMA, PALMOPLANTAR, WITH DEAFNESS
             0.9285714 0.995627
KERATOSIS PALMOPLANTARIS STRIATA I
             0.9985423 0.992263
WAARDENBURG SYNDROME, TYPE III; WS3
             0.2758466 0.244001
KLIPPEL-TRENAUNAY-WEBER SYNDROME
             0.7383649 0.768812
LACRIMOAURICULODENTODIGITAL SYNDROME; LADD
             0.9992711 0.792419
TRICHORHINOPHALANGEAL SYNDROME, TYPE II; TRPS2
             0.9998879 MULTIPLE, OF SKIN
LEIOMYOMA, HEREDITARY 0.27237
             0.9987665
LEOPARD SYNDROME 1 0.357143
                     1 0.970621
PLATYSPONDYLIC LETHAL SKELETAL DYSPLASIA, TORRANCE TYPE; PLSDT
             0.2353667 0.223593
LEUKEMIA, CHRONIC LYMPHOCYTIC; CLL
             0.8773268 BCL2
B-CELL CLL/LYMPHOMA 2; 0.835165
             0.3865216 0.737609
LEUKEMIA, LYMPHOID, 1; LYL1 LYMPHOBLASTIC LEUKEMIA-DERIVED SEQUENCE 1, INCLUDED; LYL1, INCLUDED
             0.9996636 0.999215
LI-FRAUMENI SYNDROME 1; LFS1
              0.940906 0.730096
SYSTEMIC LUPUS ERYTHEMATOSUS; SLE
              HEREDITARY, IA
LYMPHEDEMA,0.6430814 0.805898
             0.9992151 0.792106
BANNAYAN-RILEY-RUVALCABA SYNDROME; BRRS
               5q DELETION SYNDROME
CHROMOSOME 0.673133 0.959072
                     1 0.049675
FECHTNER SYNDROME; FTNS
EPSTEIN SYNDROME 1 0.064701
                      1 0.998767
BERNARD-SOULIER SYNDROME, BENIGN AUTOSOMAL DOMINANT
             0.9920386 0.840099
MACULAR DYSTROPHY, VITELLIFORM; VMD
                      1 0.997645
MACULAR DEGENERATION, AGE-RELATED, 2; ARMD2
             0.9919264 0.887082
MACULAR DYSTROPHY, CONCENTRIC ANNULAR
             0.1243552 0.756784
HYPOMAGNESEMIA 2, RENAL; HOMG2
             0.9998879
MARFAN SYNDROME; MFS0.986768
                      1 0.177618
MAY-HEGGLIN ANOMALY; MHA
                      FAMILIAL MEDULLARY; MTC
THYROID CARCINOMA, 1 0.890446
             0.9298654 0.603169
MEDULLOBLASTOMA
             0.8060103 MALIGNANT; CMM
MELANOMA, CUTANEOUS 0.962772
             0.9934963      0.878
METAPHYSEAL CHONDRODYSPLASIA, JANSEN TYPE
             0.9914779 0.994505
METAPHYSEAL CHONDRODYSPLASIA, SCHMID TYPE; MCDS
KNIEST DYSPLASIA      1 0.981722
             UPTAKE FACILITATOR; MEV
MEVALONATE 0.6956717 0.272931
             0.7904239 HPE2
HOLOPROSENCEPHALY 2;0.957053
              EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT,
PROGRESSIVE0.9995515 0.907827
MONILETHRIX 0.3525454 0.889437
             0.9962992 MTS
MUIR-TORRE SYNDROME;0.929292
             0.9984301 0.914443
MULLERIAN APLASIA
             0.9816082 0.54755
COWDEN DISEASE; CD
                0.84963 HEREDITARY MOTOR, TYPE IIA; HMN2A
NEURONOPATHY, DISTAL 0.980265
             0.9438837 0.688837
BETHLEM MYOPATHY
             0.0069522 MUSCULAR DYSTROPHY 1A; FSHMD1A
FACIOSCAPULOHUMERAL0.007625
             0.9991029 0.98318
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1A; LGMD1A
             0.6622561 0.758802
MYELOID/LYMPHOID OR MIXED LINEAGE LEUKEMIA; MLL
             0.7361516
MYOCLONIC DYSTONIA 0.803992
             0.5604396 EA1
EPISODIC ATAXIA, TYPE 1;0.785041
             0.4899081 0.352097
MYOPATHY, CENTRONUCLEAR, AUTOSOMAL DOMINANT
             0.9971967 0.182104
MYOPATHY, DISTAL 1; MPD1
             0.9992151 0.027809
MYOTONIA CONGENITA, AUTOSOMAL DOMINANT
             0.9892353 1; CNC1
CARNEY COMPLEX, TYPE 0.866001
             0.0488899
NARCOLEPSY 1; NRCLP1 0.123458
             0.8861852 0.921059
NEMALINE MYOPATHY 3; NEM3
                      1 0.609217
HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE; HNFJ
             0.9997757 0.909733
SCHWANNOMATOSIS
             0.9998879 0.974546
MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIB; MEN2B
              HEREDITARY SENSORY AND AUTONOMIC, TYPE I; HSAN1
NEUROPATHY,0.0114375 0.013007
              HEREDITARY, WITH LIABILITY TO PRESSURE PALSIES; HNPP
NEUROPATHY,0.9998879            1
             0.8875308
CYCLIC HEMATOPOIESIS 0.81442
             0.0100919 AUTOSOMAL DOMINANT; SSS2
SICK SINUS SYNDROME 2,0.011325
             0.9881126 0.711618
NOONAN SYNDROME 1; NS1
              0.998318 0.294797
NOONAN-LIKE/MULTIPLE GIANT CELL LESION SYNDROME
             0.9918143 0.369141
OCULODENTODIGITAL DYSPLASIA; ODDD
             0.5509083 0.32911
OBSESSIVE-COMPULSIVE DISORDER 1; OCD1
             0.2595874 0.877327
OCULOPHARYNGEAL MUSCULAR DYSTROPHY; OPMD
              0.880915 0.965239
SPINOCEREBELLAR ATAXIA 1; SCA1
             0.8223817 0.900202
SPINOCEREBELLAR ATAXIA 7; SCA7
             0.9942812 0.451222
ENCHONDROMATOSIS, MULTIPLE
             0.9997757 0.529046
OSTEOGENESIS IMPERFECTA, TYPE I
             0.9993832 0.642481
OSTEOGENESIS IMPERFECTA, TYPE IIA
             0.9996636 0.343445
OSTEOGENESIS IMPERFECTA, TYPE IV
             0.9872169 0.550235
OSTEOPETROSIS, AUTOSOMAL DOMINANT 2; OPTA2
             0.9447123 0.98772
PACHYONYCHIA CONGENITA, TYPE 1; PC1
             0.6793204 0.999551
PACHYONYCHIA CONGENITA, TYPE 2; PC2
             0.6622925 0.517646
PANCREATITIS, HEREDITARY; PCTT
                     1 0.785602
PARAMYOTONIA CONGENITA OF VON EULENBURG; PMC
             0.9917022 0.998991
PARIETAL FORAMINA; PFM
             0.9009423 0.858672
PARKINSON DISEASE; PD PARKINSONISM, INCLUDED
             0.9997757         1
PARKINSON DISEASE, FAMILIAL, TYPE 1; PARK1
CHAR SYNDROME0.2976004 0.710585
             0.9988787 OF RETINAL PIGMENT EPITHELIUM
PATTERNED DYSTROPHY 0.995066
              ANOMALY; PHA
PELGER-HUET0.9875533 0.673245
             0.8629738 0.699036
ANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSIS
              PERIODIC 0.957385
HYPOKALEMIC0.9997196 PARALYSIS; HOKPP
                     1 PARALYSIS; HYPP
HYPERKALEMIC PERIODIC0.829782
                     1 0.931263
PERIODONTITIS, AGGRESSIVE, 1
             0.9997757 0.857367
MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA; MEN2A
                     1
PICK DISEASE OF BRAIN 0.997757
             0.9358601 0.433057
PIEBALD TRAIT; PBT
             0.9968603 0.765418
PITUITARY DWARFISM DUE TO ISOLATED GROWTH HORMONE DEFICIENCY, AUTOSOMAL DOMINANT
             0.2556627
KINDLER SYNDROME          0.7671
             0.9397219 0.756476
POLYCYSTIC KIDNEYS
             0.5212515 0.43989
POLYCYSTIC LIVER DISEASE; PCLD
             0.9917022 II; PPD2
POLYDACTYLY, PREAXIAL 0.794461
              OSTEOLYTIC DYSPLASIA, HEREDITARY EXPANSILE; HEPOD
POLYOSTOTIC0.9921507 0.549338
             0.9843557 0.827352
JUVENILE POLYPOSIS SYNDROME; JPS
             0.9997757 0.883606
ADENOMATOUS POLYPOSIS OF THE COLON; APC
              0.837856 0.957838
PEUTZ-JEGHERS SYNDROME; PJS
             0.9864319 0.045077
PORENCEPHALY, FAMILIAL
             0.0245571 0.027697
PORPHYRIA CUTANEA TARDA
             0.5085791
PORPHYRIA VARIEGATA 0.149994
              SYNDROME; PWS
PRADER-WILLI0.5217538 0.25712
             0.9986544 0.782462
PREAXIAL DEFICIENCY, POSTAXIAL POLYDACTYLY, AND HYPOSPADIAS
             0.8403229 0.915115
PRECOCIOUS PUBERTY, MALE-LIMITED
             0.9991029 SEPARATION TRAIT; PCS
PREMATURE CHROMATID 0.608993
             0.9991029 0.928796
DEMENTIA, FAMILIAL BRITISH; FBD
             0.7818902 0.912629
PROSTATE CANCER
             0.9629962 0.989908
PROTEIN C DEFICIENCY, CONGENITAL THROMBOTIC DISEASE DUE TO
             0.9987665 0.830119
PROTEUS SYNDROME
             0.9987665 0.996524
PSEUDOACHONDROPLASIA; PSACH
             0.9490299 0.983907
LIDDLE SYNDROME
             0.9943934 0.686253
PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL DOMINANT
             0.9998879 0.999215
PSEUDO-VON WILLEBRAND DISEASE
             0.8147567 0.296703
PULMONARY FIBROSIS, IDIOPATHIC
             0.8575914 0.490581
PULMONARY HYPERTENSION, PRIMARY; PPH1
             0.9745459 0.996412
RENAL TUBULAR ACIDOSIS, DISTAL, AUTOSOMAL DOMINANT
             0.9998879 0.996524
DOWLING-DEGOS DISEASE; DDD
              0.820924 RP1
RETINITIS PIGMENTOSA 1;0.452568
             0.0837632 RP9
RETINITIS PIGMENTOSA 9;0.187822
             0.9929356 0.97634
RETINOBLASTOMA; RB1
             0.4648424 RA
RHEUMATOID ARTHRITIS; 0.485814
             0.9978695 0.230881
ROBINOW-SORAUF SYNDROME
                     1 0.999551
ROUSSY-LEVY HEREDITARY AREFLEXIC DYSTASIA
             0.8941467 0.945503
RUBINSTEIN-TAYBI SYNDROME; RSTS
SARCOIDOSIS 0.3894371 0.843014
             0.0190626 0.021866
ULNAR-MAMMARY SYNDROME; UMS
             0.5396995
SCHIZOPHRENIA; SCZD 0.911349
             0.9998879 0.994954
SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME
             0.9933842
SEPTOOPTIC DYSPLASIA 0.989011
             0.5089352 0.430013
SMITH-MAGENIS SYNDROME; SMS
             0.0541601 0.924423
SPASTIC PARAPLEGIA 4, AUTOSOMAL DOMINANT; SPG4
             0.8861852 0.703072
SPHEROCYTOSIS, HEREDITARY; HS
             0.9984301 0.992151
MYOPATHY, SPHEROID BODY
             0.7188832 0.940009
SPINOCEREBELLAR ATAXIA 2; SCA2
                      1 0.955932
SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA; SEDC
             0.9980935 0.944208
SPONDYLOEPIMETAPHYSEAL DYSPLASIA, STRUDWICK TYPE
             0.9998879 BROAD
STAPES ANKYLOSIS WITH0.998542THUMB AND TOES
             0.9939448 0.641624
STEATOCYSTOMA MULTIPLEX
             0.9952904 0.870375
POLYCYSTIC OVARY SYNDROME 1; PCOS1
                      1 0.997869
SYMPHALANGISM, PROXIMAL; SYM1
             TYPE III
SYNDACTYLY, 0.9946176 0.20767
             0.9998879 0.997869
MULTIPLE SYNOSTOSES SYNDROME 1; SYNS1
             0.9998879 0.998206
TARSAL-CARPAL COALITION SYNDROME; TCC SYNOSTOSIS OF TALUS AND CALCANEUS WITH SHORT STATURE, IN
             0.9827316 0.938103
SYNOVITIS, GRANULOMATOUS, WITH UVEITIS AND CRANIAL NEUROPATHIES
               FALLOT
TETRALOGY OF0.956221 0.846942
             0.9998879 0.736488
THANATOPHORIC DYSPLASIA, TYPE I; TD1
             0.9998879 0.887419
THANATOPHORIC DYSPLASIA, TYPE II; TD2
              0.914667 0.900426
THROMBOCYTHEMIA, ESSENTIAL
             0.9016603      0.807
THROMBOPHILIA VENOUS THROMBOEMBOLISM, INCLUDED
             0.9994393 0.996524
THROMBOPHILIA DUE TO DEFICIENCY OF ACTIVATED PROTEIN C COFACTOR
             0.8017949 0.808257
THYROID CARCINOMA, PAPILLARY
             0.9991029 0.464678
THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT; GRTH
             0.9992151 0.954923
WITKOP SYNDROME
             0.6725723 0.888876
TREMOR, HEREDITARY ESSENTIAL, 1; ETM1
             0.2836959 0.731778
TRICHODENTOOSSEOUS SYNDROME
             0.9993272 0.178964
TRICHORHINOPHALANGEAL SYNDROME, TYPE I; TRPS1
             0.9992151 0.327876
TRICHORHINOPHALANGEAL SYNDROME, TYPE III; TRPS3
             0.9899069 0.821801
TUBEROUS SCLEROSIS; TS
             0.9919255 0.781317
ULCERATIVE COLITIS, SUSCEPTIBILITY TO
             0.9988787 0.969836
MUCKLE-WELLS SYNDROME
             0.4931599 0.79704
VELOCARDIOFACIAL SYNDROME
             0.9998879 0.999215
LONG QT SYNDROME 1; LQT1
              0.997891 0.654409
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC; CMH
             TACHYCARDIA, FAMILIAL
VENTRICULAR 0.9997757 0.844023
              0.550684 0.734245
VERTICAL TALUS, CONGENITAL; CVT
             0.9971967 0.96322
HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL DOMINANT; ADHR
             0.8103835 0.88641
VON HIPPEL-LINDAU SYNDROME; VHL
             0.9996636 0.992487
VON WILLEBRAND DISEASE
             0.9987665 0.997309
WAARDENBURG SYNDROME, TYPE I; WS1
             0.9992151 0.806459
WAARDENBURG SYNDROME, TYPE IIA; WS2A WS2
             0.9951783 0.908388
WEYERS ACROFACIAL DYSOSTOSIS
WHIM SYNDROME0.8618524 0.940233
             0.5710922 0.848509
WHITE SPONGE NEVUS OF CANNON
             0.5468701 0.675993
WILLIAMS-BEUREN SYNDROME; WBS
WILMS TUMOR 1; WT1 1 0.801749
                      1 0.808926
DENYS-DRASH SYNDROME; DDS
             0.9993272 0.893698
WOLF-HIRSCHHORN SYNDROME; WHS WOLF-HIRSCHHORN CHROMOSOME REGION, INCLUDED; WHCR, INCLUDED
             0.9996636 0.500785
WOLFF-PARKINSON-WHITE SYNDROME
             0.8820363
ZINC, ELEVATED PLASMA 0.769231
             0.7786499 ABL
ABETALIPOPROTEINEMIA;0.737609
                      1 0.971967
ACHONDROGENESIS, TYPE II; ACG2
                      1 0.97948
CHONDRODYSPLASIA, GREBE TYPE
             0.9998879 0.967033
ACROMESOMELIC DYSPLASIA, HUNTER-THOMPSON TYPE
              0.250841 0.424198
ACTH DEFICIENCY
              0.218771 0.542947
ACYL-CoA DEHYDROGENASE, MEDIUM-CHAIN, DEFICIENCY OF
             0.0172684 0.019735
ACYL-CoA DEHYDROGENASE, VERY LONG-CHAIN, DEFICIENCY OF
             0.5848379 0.515196
LIPOID CONGENITAL ADRENAL HYPERPLASIA
             0.9947298 0.80758
POR DEFICIENCY
             0.9056963 0.757008
ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 17-ALPHA-HYDROXYLASE DEFICIENCY
             0.5828661 0.170554
GLUCOCORTICOID DEFICIENCY 1; GCCD1
             0.9530177 0.98665
ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL FORM
              0.875916 0.946239
AFIBRINOGENEMIA, CONGENITAL
             0.9996636 0.314645
NEUTROPENIA, SEVERE CONGENITAL, AUTOSOMAL DOMINANT 1; SCN1
             0.9998879 0.999888
ALBINISM, OCULOCUTANEOUS, TYPE IA; OCA1A
             0.9998879          1
ALBINISM, OCULOCUTANEOUS, TYPE III; OCA3
             0.3778551 0.621135
HERMANSKY-PUDLAK SYNDROME; HPS
             0.9995515 0.992263
CORTICOSTERONE METHYLOXIDASE TYPE I DEFICIENCY
             0.9110588
ALEXANDER DISEASE          0.4345
             0
ALKAPTONURIA.0168199 0.019175
             0.9998879 0.870487
ALOPECIA UNIVERSALIS CONGENITA; ALUNC
              0.994954 0.831464
ALPERS DIFFUSE DEGENERATION OF CEREBRAL GRAY MATTER WITH HEPATIC CIRRHOSIS
             0.9997757 0.908377
ALPORT SYNDROME, AUTOSOMAL RECESSIVE
                0.16719 0.362637
ALSTROM SYNDROME; ALMS
             0.9954229 0.518174
LEBER CONGENITAL AMAUROSIS, TYPE I; LCA1
              0.961987 0.465687
LEBER CONGENITAL AMAUROSIS, TYPE II; LCA2
             0.0345369 NEURONAL, 2; CLN2
CEROID LIPOFUSCINOSIS,0.038574
             0.9996636 0.656313
AMYOTROPHIC LATERAL SCLEROSIS 2, JUVENILE; ALS2
             0.9919255
TANGIER DISEASE; TGD 0.998654
             0.4930478 0.500673
MICROPHTHALMIA, SYNDROMIC 3; MCOPS3
             0.9922628 0.200045
ANTLEY-BIXLER SYNDROME; ABS
             0.9043508 0.992824
APOLIPOPROTEIN C-II DEFICIENCY
ARGININEMIA 0.2422068 0.693093
             0.0788293 0.842229
ARGININOSUCCINIC ACIDURIA
             0.7897511 0.474882
ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY; GACI
             0.0032519 0.003588
ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS
             0.1281678 0.852994
ASPARTYLGLUCOSAMINURIA
             0.8933617 AT
ATAXIA-TELANGIECTASIA;0.992824
              0.983965 0.579502
ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA; EAOH
             0.9358601 0.994505
ATRANSFERRINEMIA
             0.9992151 LESIONS;
ATRICHIA WITH PAPULAR 0.846042 APL
AUTISM       0.3658892 0.563691
             0.8839877 0.980903
AUTONOMIC CONTROL, CONGENITAL FAILURE OF
              SYNDROME; BBS
BARDET-BIEDL0.1784059 0.217437
             0.2847729 0.725911
BARE LYMPHOCYTE SYNDROME, TYPE II
             0.7133274 0.864617
ATYPICAL MYCOBACTERIOSIS, FAMILIAL
             0.0124481 0.01413
SITOSTEROLEMIA
             0.8600583 0.854227
SECKEL SYNDROME 1
             0.8371832
BLOOM SYNDROME; BLM 0.891568
             0.9930478 0.724938
TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL; HFTC
LUNG CANCER0.9650441 0.915022
             0.8880915 0.91747
CARBOXYPEPTIDASE N DEFICIENCY
              0.893586 0.918479
CARNITINE DEFICIENCY, SYSTEMIC PRIMARY; CDSP
             0.8953801
MARTSOLF SYNDROME 0.981498
             0.9579313 ZS
ZELLWEGER SYNDROME; 0.988759
             0.9948413 0.979421
CEREBROOCULOFACIOSKELETAL SYNDROME 1; COFS1
             0.9996636 0.905696
GRISCELLI SYNDROME, TYPE 1; GS1
             0.6218883 0.570419
CHEDIAK-HIGASHI SYNDROME; CHS
             0.5467594 0.98475
DIARRHEA 1, SECRETORY CHLORIDE, CONGENITAL
             0.9964118 0.597443
CHONDRODYSPLASIA, BLOMSTRAND TYPE; BOCD
             0.9811617 0.998542
RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 1; RCDP1
             0.9886746 0.303992
HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA
             0.9998879 0.999776
CHONDROSARCOMA
             0.8448469 0.861444
CIRRHOSIS, FAMILIAL
             0.5385737
CITRULLINEMIA, CLASSIC 0.721911
             0.9138163 0.949535
COCKAYNE SYNDROME, TYPE A; CSA
             COMPONENT 2 DEFICIENCY
COMPLEMENT 0.8930253 0.956268
              0.924871 0.918255
COMPLEMENT COMPONENT 6 DEFICIENCY
             0.9201615 0.466809
PLASMINOGEN DEFICIENCY, TYPE I
             0.9486432
COSTELLO SYNDROME 0.828549
             0.6814308 0.737385
HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 2; CHNG2
             0.0384659 0.126388
CRYPTORCHIDISM, UNILATERAL OR BILATERAL
             0.7630851 RECESSIVE, TYPE I
CUTIS LAXA, AUTOSOMAL 0.421228
             0.0011213 0.001346
CYSTATHIONINURIA
             0.9974209 0.996748
CYSTIC FIBROSIS; CF
CYSTINURIA 0.2926665 0.492263
                     1 0.999551
DEAFNESS, NEUROSENSORY, AUTOSOMAL RECESSIVE 1; DFNB1
             0.9652349    0.8952
JERVELL AND LANGE-NIELSEN SYNDROME; JLNS1
             0.0881462 0.498766
POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY; PLOSL
             0.9997757 0.825858
DIABETES MELLITUS, INSULIN-DEPENDENT; IDDM
             0.4039022 0.905472
LYSINURIC PROTEIN INTOLERANCE; LPI
             0.9939448 0.993272
RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 2; RCDP2
             0.2819018 0.56257
DIPHOSPHOGLYCERATE MUTASE DEFICIENCY OF ERYTHROCYTE
             0.3818121 0.855237
SUCRASE-ISOMALTASE DEFICIENCY, CONGENITAL; CSID
             0.7820139 0.819466
LACTASE DEFICIENCY, CONGENITAL
             0.3145324
LACTASE PERSISTENCE 0.556739
              HEREDITARY SENSORY AND AUTONOMIC, TYPE III; HSAN3
NEUROPATHY,0.7664275 0.85277
                DYSPLASIA, SILVERMAN-HANDMAKER TYPE; DDSH
DYSSEGMENTAL0.99159 0.858152
             DYSPLASIA, ANHIDROTIC
ECTODERMAL 0.9840754 0.999271
             0.9993272 0.198251
ROSSELLI-GULIENETTI SYNDROME
             0.9992151 0.148912
CLEFT LIP/PALATE-ECTODERMAL DYSPLASIA SYNDROME; CLPED1
             0.9936084 0.799282
ELLIS-VAN CREVELD SYNDROME; EVC
               DEFICIENCY
ENTEROKINASE0.917246 0.84593
                     1 0.984189
EPIDERMOLYSIS BULLOSA DYSTROPHICA, HALLOPEAU-SIEMENS TYPE; EBR1
             0.9654927   GENERALIZED ATROPHIC BENIGN; GABEB
EPIDERMOLYSIS BULLOSA,0.99843
             0.9988787 0.990581
EPIDERMOLYSIS BULLOSA SIMPLEX AND LIMB-GIRDLE MUSCULAR DYSTROPHY
             0.9673096 0.999888
EPIDERMOLYSIS BULLOSA LETALIS
             0.9855349 0.991702
EPIDERMOLYSIS BULLOSA WITH PYLORIC ATRESIA
             0.6412873 0.693429
EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH EARLY-ONSET DIABETES MELLITUS
             0.9628799 0.996972
FACTOR V AND FACTOR VIII, COMBINED DEFICIENCY OF; F5F8D
             0.9995515
FACTOR V DEFICIENCY 0.997533
             0.9240861
FACTOR VII DEFICIENCY 0.994842
             0.9120879
FACTOR X DEFICIENCY 0.997645
             0.7021315 0.746264
FANCONI ANEMIA; FA
             0.8735142 0.895156
FANCONI-BICKEL SYNDROME; FBS
             0.9971967 0.587239
FERTILE EUNUCH SYNDROME
             0.9993272 HYALINE
FIBROMATOSIS, JUVENILE0.119421
                     1 0.991029
FIBULAR HYPOPLASIA AND COMPLEX BRACHYDACTYLY
             0.9837407 0.960978
FIBULAR APLASIA OR HYPOPLASIA, FEMORAL BOWING AND POLY-, SYN-, AND OLIGODACTYLY
             0.8409957 0.926553
PREKALLIKREIN DEFICIENCY
             0.4948419 0.999215
FRIEDREICH ATAXIA 1; FRDA
              0.344584 0.601592
FRUCTOSE INTOLERANCE, HEREDITARY
FRUCTOSURIA0.0134559 0.01525
             0.0081857 0.009195
GALACTOSE EPIMERASE DEFICIENCY
GALACTOSEMIA  0.220453 0.19455
                       0.896726
GM1-GANGLIOSIDOSIS,1TYPE I
                       0.897623
GM1-GANGLIOSIDOSIS,1TYPE II
                       0.848845
GM1-GANGLIOSIDOSIS,1TYPE III
             0.9998879 I
GAUCHER DISEASE, TYPE0.446176
                     1 II
GAUCHER DISEASE, TYPE0.702848
                     1 0.96109
GAUCHER DISEASE, TYPE III
                     1 IIIC
GAUCHER DISEASE, TYPE0.869477
             0.9570483 0.996636
GIANT PLATELET SYNDROME
             0.0190626 0.021754
GLUTARIC ACIDEMIA I
             0.0368917 0.041041
MULTIPLE ACYL-CoA DEHYDROGENASE DEFICIENCY; MADD
              SYNTHETASE DEFICIENCY OF ERYTHROCYTES, HEMOLYTIC ANEMIA DUE TO
GLUTATHIONE0.9993272 0.017941
             0.4308141 0.152276
GLUTATHIONURIA
             0.2943485 0.584436
GLYCOGEN STORAGE DISEASE II
             0.0080736 0.008971
GLYCOGEN STORAGE DISEASE VI
             0.9991029 0.637026
OVARIAN DYSGENESIS 1; ODG1
             0.9588473 DEFICIENCY
GTP CYCLOHYDROLASE I 0.816551
             0.8958287
FACTOR XII DEFICIENCY 0.944382
             0.9881139 0.376093
HEMOCHROMATOSIS; HFE
              0.788358 0.598512
HEMOLYTIC UREMIC SYNDROME, ATYPICAL; aHUS HEMOLYTIC UREMIC SYNDROME, TYPICAL, INCLUDED
             0.4987665 0.958174
MOWAT-WILSON SYNDROME
             0.5687374 0.43216
HOMOCYSTINURIA
             0.2934514 0.151828
HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY
             0.9078269 0.170218
HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA DUE TO DEFECT IN COBALAMIN METABOLISM, cblE COMPLEMENTATI
             0.9997757 0.096771
HYALINOSIS, INFANTILE SYSTEMIC
             0.0168218 0.019289
WALKER-WARBURG SYNDROME
             0.9435972 0.86017
CARBAMOYL PHOSPHATE SYNTHETASE I DEFICIENCY, HYPERAMMONEMIA DUE TO
             0.6788518 0.975331
DUBIN-JOHNSON SYNDROME; DJS
             0.9328325 TYPE I
HYPERLIPOPROTEINEMIA,0.999664
              0.821821 0.935748
PAGET DISEASE, JUVENILE
             0.9991029 NEONATAL SEVERE PRIMARY; NSHPT
HYPERPARATHYROIDISM, 0.423862
             POLYENDOCRINE SYNDROME, TYPE I; APS1
AUTOIMMUNE 0.5781565 0.794461
             0.6588921 0.838865
COMMON VARIABLE IMMUNODEFICIENCY; CVID
                     1 0.999551
HYPOGLYCEMIA, LEUCINE-INDUCED; LIH
             0.5742319 0.927338
BARTTER SYNDROME, ANTENATAL, TYPE 2
             0.9992151 0.92588
HYPOPHOSPHATASIA, INFANTILE
             0.9982059 0.876318
HYPOPHOSPHATASIA, CHILDHOOD
             0.6856919 0.658892
HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL RECESSIVE
             0.8821485 0.784144
HYPOPROTEINEMIA, HYPERCATABOLIC
             0.9491982 0.603398
ICHTHYOSIFORM ERYTHRODERMA, CONGENITAL, NONBULLOUS, 1; NCIE1
             0.9961875 0.165396
ICHTHYOSIS, LAMELLAR, 1; LI1
                     1 0.531846
PRIMARY CILIARY DYSKINESIA; PCD
              0.453577 0.985647
IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME
              0.068401
ISONIAZID INACTIVATION 0.802198
             0.0100919 0.011213
ISOVALERIC ACIDEMIA; IVA
             0.4598565 0.267325
JOHANSON-BLIZZARD SYNDROME; JBS
             SYNDROME
KARTAGENER 0.9997757 0.54205
             0.9998879 0.681879
PAPILLON-LEFEVRE SYNDROME; PALS
             0.9998879 0.94797
HAIM-MUNK SYNDROME; HMS
             0.6447634 0.999664
KEUTEL SYNDROME
KURU, SUSCEPTIBILITY1TO0.878672
             0.5602153 0.541377
ERYTHROCYTE LACTATE TRANSPORTER DEFECT
             0.9144427 0.845705
SPECIFIC GRANULE DEFICIENCY; SGD
             0.8718322 0.962211
GROWTH HORMONE INSENSITIVITY WITH IMMUNODEFICIENCY
             0.9995515 0.990132
LECITHIN:CHOLESTEROL ACYLTRANSFERASE DEFICIENCY
             0.9985423 0.67717
DONOHUE SYNDROME
             0.7945728 0.592397
LIPOID PROTEINOSIS OF URBACH AND WIETHE
             0.9925992 0.673357
MILLER-DIEKER LISSENCEPHALY SYNDROME; MDLS
                     1 0.999327
STARGARDT DISEASE 1; STGD1
             0.4640054 0.67717
HYPOMAGNESEMIA 3, RENAL; HOMG3
             0.9995515 0.599798
PLASMODIUM FALCIPARUM BLOOD INFECTION LEVEL
              URINE DISEASE
MAPLE SYRUP0.2015852 0.154666
              0.711146 0.774277
MARINESCO-SJOGREN SYNDROME; MSS
MAST SYNDROME0.3425656 0.488338
             0.9961875 0.649809
FAMILIAL MEDITERRANEAN FEVER; FMF
             0.9987665 0.32754
LANGER MESOMELIC DYSPLASIA
             0.9216192 0.990917
METACHROMATIC LEUKODYSTROPHY DUE TO SAPOSIN B DEFICIENCY
             0.9877775 0.112693
METACHROMATIC LEUKODYSTROPHY
             0.9272258 0.975555
METHEMOGLOBINEMIA DUE TO DEFICIENCY OF CYTOCHROME b5
             0.8985198 0.999776
METHEMOGLOBINEMIA DUE TO DEFICIENCY OF METHEMOGLOBIN REDUCTASE
             0.3461538 0.844023
METHYLCOBALAMIN DEFICIENCY, cblG TYPE
             0.0065037 ACIDURIA,
3-@METHYLGLUTACONIC 0.007064 TYPE I
             0.9744337 0.877215
METHYLMALONIC ACIDURIA DUE TO METHYLMALONYL-CoA MUTASE DEFICIENCY
             0.9869926 0.998879
METHYLMALONIC ACIDURIA, cblA TYPE
             0.9344023 0.66192
METHYLMALONIC ACIDURIA, cblB TYPE
             0.9982059 0.512222
MICROCEPHALY, PRIMARY AUTOSOMAL RECESSIVE, 1; MCPH1
             0.9486432 0.990244
NIJMEGEN BREAKAGE SYNDROME
             0.0266876 0.030164
MITOCHONDRIAL DNA DEPLETION SYNDROME, HEPATOCEREBRAL FORM
             0.9354718 0.491177
MITOCHONDRIAL COMPLEX I DEFICIENCY
              0.048105 0.246019
MOLYBDENUM COFACTOR DEFICIENCY
             0.0547208 0.403566
MUCOLIPIDOSIS III GAMMA
             0.9997757
MORQUIO SYNDROME B 0.890895
             0.4532406 0.27708
MUCOPOLYSACCHARIDOSIS TYPE VII
             0.6733573 0.47634
MULIBREY NANISM
             0.9881139 0.681094
MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE
             0.7363541 0.68263
SPINAL MUSCULAR ATROPHY, TYPE I; SMA1
             0.9993271 0.658854
SPINAL MUSCULAR ATROPHY, TYPE III; SMA3
             0.9993271 0.679545
SPINAL MUSCULAR ATROPHY, TYPE II; SMA2
             0.9225163 0.999664
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2A; LGMD2A
             0.9996636 0.999776
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B; LGMD2B
             0.9698363 0.999327
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2C; LGMD2C
             0.9880565 0.987496
ULLRICH CONGENITAL MUSCULAR DYSTROPHY; UCMD
             0.6077596 0.889661
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2H; LGMD2H
             0.9998879
MIYOSHI MYOPATHY; MM 0.999888
              0.998037
MYASTHENIA GRAVIS; MG0.854038
             0.9700606 CONGENITAL, ASSOCIATED WITH EPISODIC APNEA
MYASTHENIC SYNDROME,0.797937
             0.8718322 0.333819
MYELOPEROXIDASE DEFICIENCY
             0.9992151 0.409621
MYOCLONIC EPILEPSY, JUVENILE, 1; EJM1
             0.0612245 LAFORA
MYOCLONIC EPILEPSY OF0.212043
             0.6115721 UNVERRICHT AND LUNDBORG
MYOCLONIC EPILEPSY OF0.737834
             0.6211034 0.304328
CARNITINE PALMITOYLTRANSFERASE I DEFICIENCY
             0.9992151 0.027809
MYOTONIA CONGENITA, AUTOSOMAL RECESSIVE
             0.9909172 0.935187
SCHWARTZ-JAMPEL SYNDROME, TYPE 1; SJS1
             0.9934963
MYXOMA, INTRACARDIAC 0.618076
              0.974543 0.354604
LEIGH SYNDROME; LS
             0.8931375 0.981722
NEMALINE MYOPATHY 2; NEM2
             0.9994393
NEPHRONOPHTHISIS 1; NPHP1 1
             CONGENITAL, FINNISH TYPE; NPHS1
NEPHROSIS 1, 0.9033416 0.900426
                     1 0.853218
NEPHROTIC SYNDROME, EARLY-ONSET, WITH DIFFUSE MESANGIAL SCLEROSIS
                     1 0.995963
HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1; HHF1
             0.7598116 NETH
NETHERTON SYNDROME; 0.329895
             0.9259924 0.992824
NEURAMINIDASE DEFICIENCY
             0.9996636 0.689617
ELEJALDE DISEASE
              TO PAIN, 0.990805
INSENSITIVITY0.9018838 CONGENITAL, WITH ANHIDROSIS; CIPA
              HEREDITARY SENSORY, WITH SPASTIC PARAPLEGIA, AUTOSOMAL RECESSIVE
NEUROPATHY,0.7667638 0.54732
             0.3417807 0.927674
GIANT AXONAL NEUROPATHY 1; GAN1
              DISEASE, 0.835165
NIEMANN-PICK0.9995515 TYPE A
             0.1660686 0.500336
NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1B; CSNB1B
             0.9993272 0.711258
MOSAIC VARIEGATED ANEUPLOIDY SYNDROME; MVA
             0.5080736
LISSENCEPHALY 2; LIS2 0.825858
             0.8107547 0.987608
OGUCHI DISEASE
              EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE
PROGRESSIVE0.9984301 0.946849
              0.163826 0.74658
ORNITHINE AMINOTRANSFERASE DEFICIENCY
             0.1206549 0.852994
OROTIC ACIDURIA I
             0.9996636 0.163115
OSTEOGENESIS IMPERFECTA, TYPE III
             0.9941691
OSTEOGENIC SARCOMA 0.936533
             0.5561848 0.63093
OSTEOPETROSIS, AUTOSOMAL RECESSIVE 1; OPTB1
             0.8556851 0.976116
OSTEOPETROSIS, AUTOSOMAL RECESSIVE 3; OPTB3
             0.9997757 0.341669
OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME; OPPG
             0.8140839 0.949092
HYPEROXALURIA, PRIMARY, TYPE I
             0.1430814 0.606863
HYPEROXALURIA, PRIMARY, TYPE II
             0.9912536
PANCREATIC CARCINOMA0.939897
             0.9992151 0.95425
PANCREATIC AGENESIS, CONGENITAL
             0.9989908 0.955595
PAPILLOMA OF CHOROID PLEXUS
                        0.998879
PARKINSON-DEMENTIA1SYNDROME
             0.4657995 0.184122
HYPER-IgD SYNDROME; HIDS
             0.9082754         1
INTRINSIC FACTOR DEFICIENCY; IFD
              0.507682 1
MEGALOBLASTIC ANEMIA 0.521195
             0.6038349 0.468827
D-BIFUNCTIONAL PROTEIN DEFICIENCY
             0.4384883 0.249355
PERSISTENT MULLERIAN DUCT SYNDROME, TYPES I AND II; PMDS
             0.0003364 0.000336
PHENYLKETONURIA
             0.0003364 0.000449
PHENYLKETONURIA II
             0.1049563 DEFICIENCY OF LIVER AND MUSCLE, AUTOSOMAL RECESSIVE
PHOSPHORYLASE KINASE0.181319
             0.9980937 0.629962
PINEAL HYPERPLASIA, INSULIN-RESISTANT DIABETES MELLITUS, AND SOMATIC ABNORMALITIES
             0.6038466
PITUITARY DWARFISM I 0.676741
             0.8790087 0.979928
GROWTH HORMONE INSENSITIVITY SYNDROME
             0.9524504
PITUITARY DWARFISM III 0.935685
             0.9965239
PITUITARY DWARFISM IV 0.993384
             0.8988562 0.847387
PLASMIN INHIBITOR DEFICIENCY
             0.5454138 0.367347
POLYCYSTIC KIDNEY DISEASE, AUTOSOMAL RECESSIVE; ARPKD
             0.1415115 0.296815
PORPHYRIA, CONGENITAL ERYTHROPOIETIC
             0.8579278 0.98688
GITELMAN SYNDROME
             0.8525454 0.981947
HYPERPHENYLALANINEMIA WITH PRIMAPTERINURIA
             0.9431984 0.931928
PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL RECESSIVE; PHA1
             0.8922404 0.99529
PTA DEFICIENCY
             0.9788069 0.833146
MULTIPLE PTERYGIUM SYNDROME, ESCOBAR VARIANT
             0.5789503 0.461983
SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 1; SMDP1
             0.9793676 0.762951
PULMONARY HYPERTENSION, FAMILIAL PERSISTENT, OF THE NEWBORN
             0.6525006 0.998654
PYCNODYSOSTOSIS
                     1 0.017941
GLUTATHIONE SYNTHETASE DEFICIENCY
                     1 0.765194
PYROPOIKILOCYTOSIS, HEREDITARY; HPP
             0.8409957 0.969724
PYRUVATE CARBOXYLASE DEFICIENCY
             0.9989908 0.074232
PYRUVATE KINASE DEFICIENCY OF RED CELLS
             0.9373108 0.978973
REFSUM DISEASE
             0.9798863 0.99413
REFSUM DISEASE, INFANTILE FORM
             0.7727395 0.731972
INFLAMMATORY BOWEL DISEASE 1; IBD1
             0.9992151 0.996636
SENIOR-LOKEN SYNDROME 1; SLSN1
             0.8515362 0.921395
RENAL TUBULAR ACIDOSIS, DISTAL, WITH PROGRESSIVE NERVE DEAFNESS
             0.7664797 0.798026
RETINITIS PIGMENTOSA; RP
             0.9013232 0.996524
ENHANCED S-CONE SYNDROME; ESCS
             0.9115272 0.990244
RH-NULL, REGULATOR TYPE; RHN
             0.6245701 0.73284
RHABDOMYOSARCOMA 2; RMS2
             0.9850863 0.833259
ROBINOW SYNDROME, AUTOSOMAL RECESSIVE
             0.1918592 0.611124
SANDHOFF DISEASE
             0.9997757 0.736376
MOVED TO 187600
             0.5842117 0.372281
SPASTIC ATAXIA, CHARLEVOIX-SAGUENAY TYPE; SACS
              0.058309 0.906593
AZOOSPERMIA DUE TO PERTURBATIONS OF MEIOSIS
                     1 0.956492
SPHEROCYTOSIS, AUTOSOMAL RECESSIVE
                     1 0.949204
SPONDYLOPERIPHERAL DYSPLASIA
             0.0035882 0.004037
CANAVAN DISEASE
                     1 0.954923
SUDDEN INFANT DEATH SYNDROME
             0.9901323 0.274501
MULTIPLE SULFATASE DEFICIENCY; MSD
             0.3338192 0.928459
COLD-INDUCED SWEATING SYNDROME 1; CISS1
             0.9102938 0.989572
TAY-SACHS DISEASE, AB VARIANT
             0.9026688
TAY-SACHS DISEASE; TSD 0.87015
             0.2793227 0.706661
THREE M SYNDROME
             0.8890883 0.98486
THROMBASTHENIA OF GLANZMANN AND NAEGELI
             0.9974209 0.957614
THROMBOTIC THROMBOCYTOPENIC PURPURA, CONGENITAL; TTP
             0.9985423 0.473873
THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL RECESSIVE; GRTH
              0.983965 0.999888
THYROID HORMONOGENESIS, GENETIC DEFECT IN, 2A
             0.9885051 0.87821
GRAVES DISEASE
              0.877551 0.998318
THYROTROPIN DEFICIENCY, ISOLATED
             0.3640951   HORMONE DEFICIENCY
THYROTROPIN-RELEASING0.82227
             0.9980937
HYPOTHYROIDISM, CONGENITAL,1NONGOITROUS, 1; CHNG1
              0.178179 0.19085
SPASTIC PARAPLEGIA 20, AUTOSOMAL RECESSIVE; SPG20
              0.999028 0.869224
MISMATCH REPAIR CANCER SYNDROME
             0.9827316 0.960417
ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY
             0.9996075 I
USHER SYNDROME, TYPE 0.985365
             0.8196905 IIA; USH2A
USHER SYNDROME, TYPE 0.530724
             0.9921507 0.18558
VACTERL ASSOCIATION WITH HYDROCEPHALUS
             0.9978695 0.900202
VAS DEFERENS, CONGENITAL BILATERAL APLASIA OF; CBAVD
             0.7214622 0.885625
VITAMIN D-DEPENDENT RICKETS, TYPE II
              0.903678 0.994954
VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 1
             0.9997757 0.998318
VON WILLEBRAND DISEASE, RECESSIVE FORM
             0.9923359 0.985943
WAARDENBURG-SHAH SYNDROME
             0.9950662 0.693878
WEAVER SYNDROME
             0.8168872 0.960305
WERNER SYNDROME; WRN
             0.7785378 0.724938
WERNICKE-KORSAKOFF SYNDROME
             0.7250505 0.801525
WILSON DISEASE
             TYPE I
XANTHINURIA,0.0289303 0.032631
             0.9998879 0.999551
ALBINISM, RUFOUS OCULOCUTANEOUS; ROCA
             0.8796815 0.993945
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP A; XPA
             0.8965015 0.999439
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C; XPC
              0.994954 0.997982
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP D; XPD
             0.8948195 0.999888
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP E
             0.3688047 0.910406
XERODERMA PIGMENTOSUM, VARIANT TYPE; XPV
              0.715407 0.999888
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP F; XPF
             0.9886746 0.999439
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP G; XPG
             0.9865441 0.996636
DE SANCTIS-CACCHIONE SYNDROME
             0.8609554 0.611684
OPITZ SYNDROME
DENT DISEASE 1       1 0.978695
             0.9997757 0.225723
MENTAL RETARDATION, X-LINKED, SYNDROMIC 13; MRXS13
             0.8469388 0.98946
LISSENCEPHALY, X-LINKED, 1; LISX1
             0.9998879 0.997533
ANDROGEN INSENSITIVITY SYNDROME; AIS
             0.9987665 0.772146
CARDIOMYOPATHY, DILATED, 3A; CMD3A
             0.9627719 0.959072
ADRENOLEUKODYSTROPHY; ALD
              0.575129 0.917919
MENTAL RETARDATION, X-LINKED 21; MRX21
                     1 0.589146
NONCOMPACTION OF LEFT VENTRICULAR MYOCARDIUM, FAMILIAL ISOLATED, X-LINKED; LVNCX
             0.6799731 0.989572
ADRENAL HYPOPLASIA, CONGENITAL; AHC
             0.9914779 0.047096
HOYERAAL-HREIDARSSON SYNDROME; HHS
DANON DISEASE0.8425656 0.977237
             0.9998879 0.316999
MOVED TO 300260
             DYSPLASIA, HYPOHIDROTIC, WITH IMMUNE DEFICIENCY
ECTODERMAL 0.9996636 0.966024
             DYSPLASIA, ANHIDROTIC, WITH IMMUNODEFICIENCY, OSTEOPETROSIS, AND LYMPHEDEMA; OLEDA
ECTODERMAL 0.9985423 0.869029
              SYNDROME; LNS
LESCH-NYHAN0.9948419 0.303768
             0.9934963 0.308253
GOUT, HPRT-RELATED
             0.4335053 0.139045
CREATINE DEFICIENCY SYNDROME, X-LINKED
             0.6766091 0.663826
DYSERYTHROPOIETIC ANEMIA WITH THROMBOCYTOPENIA MACROTHROMBOCYTOPENIA, X-LINKED, INCLUDED
             0.9994393 0.970061
MUSCULAR DYSTROPHY, BECKER TYPE; BMD
             0.7936757 0.964678
SEVERE COMBINED IMMUNODEFICIENCY, X-LINKED; SCIDX1
             0.1172909 0.16876
MENTAL RETARDATION, X-LINKED, WITH EPILEPSY; XMRE
             0.6074232 0.351312
MENTAL RETARDATION, X-LINKED 46; MRX46
             0.6929805 0.847163
HYDROXYACYL-CoA DEHYDROGENASE II DEFICIENCY
             0.9992151 0.547544
ALPHA-THALASSEMIA MYELODYSPLASIA SYNDROME; ATMDS
             0.9998879 0.31072
MOVED TO 300055
             0.8786723 0.87542
CORPUS CALLOSUM, AGENESIS OF, WITH MENTAL RETARDATION, OCULAR COLOBOMA, AND MICROGNATHIA
             0.8613323 0.853146
CONTIGUOUS ABCD1/DXS1375E DELETION SYNDROME
              0.3130747 0.796591
MENTAL RETARDATION, X-LINKED, WITH CEREBELLAR HYPOPLASIA AND DISTINCTIVE FACIAL APPEARANCE
              0.6980265 0.283808
EPILEPSY, X-LINKED, WITH VARIABLE LEARNING DISABILITIES AND BEHAVIOR DISORDERS
              0.9945055 0.124916
AUTISM, X-LINKED, SUSCEPTIBILITY TO, 2
              0.9985423 0.654743
AUTISM, X-LINKED, SUSCEPTIBILITY TO, 3
               0.995739 0.150931
ASPERGER SYNDROME, X-LINKED, SUSCEPTIBILITY TO, 2
              0.1408388 I; OA1
ALBINISM, OCULAR, TYPE 0.314757
              0.4298049 0.117403
OVARIAN DYSGENESIS 2; ODG2
              0.3633102 0.622898
PREMATURE OVARIAN FAILURE 2A; POF2A
              0.9992151 0.809038
WISKOTT-ALDRICH SYNDROME; WAS
              0.9991029 0.568177
ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, NONDELETION TYPE, X-LINKED; ATRX
              0.2831352 X-LINKED
ANEMIA, SIDEROBLASTIC, 0.400763
FABRY DISEASE 0.0070644 0.007849
              0.9975331 0.994618
CARDIOMYOPATHY, DILATED, 3B; CMD3B
              0.9994393
BARTH SYNDROME; BTHS 0.7024
              0.9862077 0.900426
CHARCOT-MARIE-TOOTH DISEASE, X-LINKED, 1; CMTX1
              0.0324064 0.036331
CHONDRODYSPLASIA PUNCTATA 2, X-LINKED DOMINANT; CDPX2
              0.6892801
CHOROIDEREMIA; CHM 0.440233
MASA SYNDROME 0.9991029 0.724602
              0.7545414 0.618749
COFFIN-LOWRY SYNDROME; CLS
              0.5390222 0.968939
COLORBLINDNESS, PARTIAL, DEUTAN SERIES; CBD
              0.5234357 0.962996
COLORBLINDNESS, PARTIAL, PROTAN SERIES; CBP
              0.9985423 0.983516
CORPUS CALLOSUM, PARTIAL AGENESIS OF, X-LINKED
              0.4888989 0.098565
CRANIOFRONTONASAL SYNDROME; CFNS
              0.9974209 0.282575
CUTIS LAXA, X-LINKED
              0.5394707 0.954362
DEAFNESS, X-LINKED 2; DFNX2
              0.9866562 0.107647
MOHR-TRANEBJAERG SYNDROME; MTS
              0.0889213 0.481498
IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED; IPEX
              0.8507513 0.892016
DIABETES INSIPIDUS, NEPHROGENIC, X-LINKED
              0.9853106 0.052927
DYSKERATOSIS CONGENITA, X-LINKED; DKC
              DYSPLASIA 1; ED1
ECTODERMAL 0.8936981 0.998991
              0.9945055 0.016596
EXUDATIVE VITREORETINOPATHY, FAMILIAL, X-LINKED RECESSIVE; EVR2
              0.2335725 0.549899
FACIOGENITAL DYSPLASIA
              0.9709576 0.987217
GONADAL DYSGENESIS, XY FEMALE TYPE; GDXY
              0.5063916 0.941579
GRANULOMATOUS DISEASE, CHRONIC, X-LINKED; CGD
HEMOPHILIA A0.9996636 0.997982
              0.9072662 0.991254
HEMOPHILIA B; HEMB
              VISCERAL, 1, X-LINKED; HTX1
HETEROTAXY,0.4701727 0.997645
              0.9995515 0.838977
HYDROCEPHALUS DUE TO CONGENITAL STENOSIS OF AQUEDUCT OF SYLVIUS; HSAS
              0.9152276 0.95795
HYPOPHOSPHATEMIC RICKETS, X-LINKED DOMINANT
              0.8504149 0.835838
IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 1; HIGM1
              0.4794797 0.992487
LYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 1; XLP1
              0.9969724 0.934514
INCONTINENTIA PIGMENTI; IP
                      1 0.983068
INFERTILE MALE SYNDROME
              0.2952456 KAL1
KALLMANN SYNDROME 1; 0.296928
               0.398632 0.839538
LOWE OCULOCEREBRORENAL SYNDROME; OCRL
MENKES DISEASE0.9978695 0.612133
              0.6265979 1; RENS1
RENPENNING SYNDROME0.900763
              0.8143081 0.84436
MENTAL RETARDATION, X-LINKED 3; MRX3
              0.9996636 0.585109
MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED, 1; MRXHF1
              0.9992151 0.787845
MUSCULAR DYSTROPHY, DUCHENNE TYPE; DMD
              0.5756896 0.661135
EMERY-DREIFUSS MUSCULAR DYSTROPHY, X-LINKED; EDMD
              MYOPATHY 1; MTM1
MYOTUBULAR 0.0254541 0.028818
                      1 0.982059
NEPHROLITHIASIS, X-LINKED RECESSIVE, WITH RENAL FAILURE; XRN
              0.9917022 0.016596
NORRIE DISEASE; ND
              0.9875533 0.14196
OPTICOACOUSTIC NERVE ATROPHY WITH DEMENTIA
              0.1220004 0.356806
ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERAMMONEMIA DUE TO
              0.6385961 X-LINKED
PROPERDIN DEFICIENCY, 0.969612
              0.9987665 DISEASE;
PELIZAEUS-MERZBACHER0.957502 PMD
                      1
REIFENSTEIN SYNDROME 0.962996
              0.1878224 X-LINKED;
RETINITIS PIGMENTOSA 2,0.054945 RP2 RP2 GENE, INCLUDED; RP2, INCLUDED
              0.0134559 0.015138
RETINOSCHISIS 1, X-LINKED, JUVENILE; RS1
              0.9991029 0.758578
RETT SYNDROME; RTT
              0.4009868 0.961538
SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1; SGBS1
              0.9982059 0.943709
SPASTIC PARAPLEGIA 2, X-LINKED; SPG2
              0.9997757 0.951783
SPINAL AND BULBAR MUSCULAR ATROPHY, X-LINKED 1; SMAX1
              0.4326082 0.187822
SPONDYLOEPIPHYSEAL DYSPLASIA TARDA, X-LINKED; SEDT
              0.9970845 0.871047
THROMBOCYTOPENIA 1; THC1
              0.0766988 0.513007
THYROXINE-BINDING GLOBULIN OF SERUM; TBG
              0.2363541 0.386907
SPERMATOGENIC FAILURE, NONOBSTRUCTIVE, Y-LINKED
              0.3067952
GONADOBLASTOMA; GBY 0.82911
              0.0427226 0.074456
DEAFNESS, AMINOGLYCOSIDE-INDUCED
                      1 0.873178
FATAL FAMILIAL INSOMNIA; FFI
              0.0928459 0.354227
SPLIT-HAND/FOOT MALFORMATION 3; SHFM3
              0.8903779 0.775653
DEAFNESS, AUTOSOMAL DOMINANT NONSYNDROMIC SENSORINEURAL 2; DFNA2
              0.9902444 0.996748
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE; PARK2
              0.8782238 0.728863
WARBURG MICRO SYNDROME; WARBM
              0.9958511 0.999327
RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 3; RCDP3
              0.9959632 0.997869
HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 2; HSCR2
              0.7229199 0.756336
VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL; VMCM
              0.3939224 0.142184
DYSLEXIA, SUSCEPTIBILITY TO, 2; DYX2
              0.9978695 0.997645
EPIPHYSEAL DYSPLASIA, MULTIPLE, 2; EDM2
                      1 0.068513
MACROTHROMBOCYTOPENIA AND PROGRESSIVE SENSORINEURAL DEAFNESS
              0.7596995 0.08623
SPINOCEREBELLAR ATAXIA 5; SCA5
              0.9997196 0.996748
FRONTOTEMPORAL DEMENTIA; FTD
              0.9998879 0.994169
TIBIAL MUSCULAR DYSTROPHY, TARDIVE
              0.6176273 0.538237
OSLER-RENDU-WEBER SYNDROME 2; ORW2
              0.9987665 0.98318
MATURITY-ONSET DIABETES OF THE YOUNG, TYPE III; MODY3
ABCD SYNDROME 0.9933842 0.996412
              0.9328325        1
EPILEPSY, NOCTURNAL FRONTAL LOBE, TYPE 1
              0.9984301 0.889437
EPILEPSY, IDIOPATHIC GENERALIZED; EIG
              0.8095986 0.450213
FRONTOTEMPORAL DEMENTIA, CHROMOSOME 3-LINKED; FTD3
              0.9054721 0.999664
SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-POSITIVE, NK CELL
               DISEASE 0.999776
GALLBLADDER0.9998879 1; GBD1
              0.8466024 TO
ASTHMA, SUSCEPTIBILITY0.670554
              0.7440009 0.491029
RETINITIS PIGMENTOSA 17; RP17
              0.9986544 0.591388
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, WITH WOLFF-PARKINSON-WHITE SYNDROME
              0.0155865 ZONULAR,
CATARACT, CONGENITAL 0.017605 WITH SUTURAL OPACITIES; CCZS
              0.6971294 0.447185
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B; CMT2B
               0.947634 0.968491
HYPERFERRITINEMIA-CATARACT SYNDROME
              0.6063019 0.944719
PROPROTEIN CONVERTASE 1 DEFICIENCY
              0.9989907 0.996972
PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC; NEPPK
              0.9169096 0.997645
EPIPHYSEAL DYSPLASIA, MULTIPLE, 3; EDM3 EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH MYOPATHY, INCLUDED
              0.9421395 0.997757
NEPHROTIC SYNDROME, STEROID-RESISTANT, AUTOSOMAL RECESSIVE; SRN1
              0.9994393 0.994057
ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 2; ARVD2
             0.9997757 0.999551
EPIDERMOLYSIS BULLOSA SIMPLEX, AUTOSOMAL RECESSIVE
             0.5993496 0.481274
BRODY MYOPATHY
             0.9994393 ID; USH1D
USHER SYNDROME, TYPE 0.985535
             0.9998879 0.837071
DEAFNESS, CHILDHOOD-ONSET NEUROSENSORY, AUTOSOMAL RECESSIVE 8; DFNB8
              0.287172 0.532855
CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1C; CMT1C
                     1 0.997533
SUPRANUCLEAR PALSY, PROGRESSIVE, 1; PSNP1
BRUGADA SYNDROME 1 0.943373
             0.9996636 0.92218
CARDIOMYOPATHY, DILATED, 1E; CMD1E
NAXOS DISEASE0.9134335 0.994281
             0.8335763 0.720814
POTOCKI-SHAFFER SYNDROME
             0.9989908 0.999888
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2F; LGMD2F
             0.9967481 0.810832
POLYCYSTIC KIDNEY DISEASE 1; PKD1 POLYCYSTIN 1, INCLUDED
             0.9151155 0.998767
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4B1; CMT4B1
             0.9989908 0.981834
DEAFNESS, AUTOSOMAL RECESSIVE 12; DFNB12
             0.8608432 0.842341
PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY
             0.9997757 0.866226
DIABETES MELLITUS, TRANSIENT NEONATAL, 1
             0.4901323 0.296815
RETINITIS PIGMENTOSA 18; RP18
             0.9709544 0.975608
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
             0.4398968 0.639605
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4D; CMT4D
              0.988393 0.958338
SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CEL
             0.9986915 CONGENITAL, SLOW-CHANNEL; SCCMS
MYASTHENIC SYNDROME,0.997458
             0.9991029 0.95952
PROSTATE CANCER, HEREDITARY, 1; HPC1
             0.9937759 0.995514
PEROXISOME BIOGENESIS DISORDERS; PBD
             0.9994953 0.974543
DEAFNESS, AUTOSOMAL DOMINANT NONSYNDROMIC SENSORINEURAL 3; DFNA3
                     1 CERULEAN TYPE, 2; CCA2
CATARACT, CONGENITAL,0.999215
             0.6463333    0.6756
HYPOTRICHOSIS, CONGENITAL, WITH JUVENILE MACULAR DYSTROPHY; HJMD
             0.6415115 0.638484
STUVE-WIEDEMANN SYNDROME
             0.9968603 TYPE 1;
IRIDOGONIODYSGENESIS,0.707558 IRID1
             0.6261387 0.571102
OBESITY LEANNESS, INCLUDED
             0.8406236 PHOTOSENSITIVE; TTDP ICHTHYOSIFORM ERYTHRODERMA WITH HAIR ABNORMALITY A
TRICHOTHIODYSTROPHY,0.962464
             0.4135456 0.678179
BARTTER SYNDROME, ANTENATAL, TYPE 1
             0.7917695 0.92745
ARTHROGRYPOSIS, DISTAL, TYPE 2B; DA2B
             0.9843014 0.981498
YEMENITE DEAF-BLIND HYPOPIGMENTATION SYNDROME
             0.9998879 0.997533
RETINITIS PIGMENTOSA 19; RP19
             0.9948419 0.998318
CONE-ROD DYSTROPHY 6; CORD6
             0.9891231 0.313187
EXUDATIVE VITREORETINOPATHY 4; EVR4
             0.7869477 0.333483
PHOSPHOGLYCERATE DEHYDROGENASE DEFICIENCY
                     1 0.993608
HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 2; HHF2
                     1 0.999888
CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 2; PFIC2
             LYMPHOPROLIFERATIVE SYNDROME; ALPS
AUTOIMMUNE 0.7471123 0.893854
                     1 0.852321
BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 1; BMND1
             0.9118636 0.981162
CATARACT, ZONULAR PULVERULENT 3; CZP3
             0.9979816 0.992824
MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 5
             0.9738731 0.999327
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2G; LGMD2G
             0.1149361 SECONDARY HYPOCALCEMIA; HOMG
HYPOMAGNESEMIA WITH 0.868917
             DYSPLASIA, PURE HAIR-NAIL TYPE
ECTODERMAL 0.8072438 0.995963
              0.520296 0.592285
FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 2; CFEOM2
             0.8724907 0.692666
PAGET DISEASE OF BONE; PDB
                      OF BOWMAN
CORNEAL DYSTROPHY1 0.990469 LAYER, TYPE II; CDB2
             0.9043508 0.994954
NEPHRONOPHTHISIS 2; NPHP2
             0.9618749 0.999103
CONE DYSTROPHY 3; COD3
              PROGRESSIVE FAMILIAL INTRAHEPATIC 3; PFIC3
CHOLESTASIS,0.9998879 0.999888
             0.9969724 0.995515
HEMOCHROMATOSIS, JUVENILE; JH
             0.6158331 0.36488
DESMOSTEROLOSIS
             0.9912536 0.896838
SEVERE COMBINED IMMUNODEFICIENCY WITH SENSITIVITY TO IONIZING RADIATION
             0.1639381 0.372617
ENCEPHALOPATHY, ETHYLMALONIC
             OF THE POSTERIOR
OSSIFICATION0.7822382 0.827316 LONGITUDINAL LIGAMENT OF SPINE; OPLL
             0.9998879 0.825746
MIGRAINE, FAMILIAL HEMIPLEGIC, 2; FHM2
                      1 0.999439
HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3; HHF3
             0.5155865 0.794573
RENAL TUBULAR ACIDOSIS, DISTAL, AUTOSOMAL RECESSIVE; RTADR
             0.0459744 0.072662
ACROMESOMELIC DYSPLASIA, MAROTEAUX TYPE; AMDM ST. HELENA DYSPLASIA, INCLUDED
              0.660462 0.934851
ENDPLATE ACETYLCHOLINESTERASE DEFICIENCY; EAD
             0.5088595 0.428115
MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOPATHY SYNDROME; MNGIE
                      1 0.821709
HUNTINGTON DISEASE-LIKE 1; HDL1
             0.9314869 0.960529
FOCAL SEGMENTAL GLOMERULOSCLEROSIS 1; FSGS1
             0.9992151 0.968042
HYPERTHYROIDISM, FAMILIAL GESTATIONAL
                0.55573 0.543171
CEREBRAL PALSY, SPASTIC, SYMMETRIC, AUTOSOMAL RECESSIVE
             0.0518053 0.127831
SPINOCEREBELLAR ATAXIA 10; SCA10
              0.217874 0.229984
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4; FHL4
             0.5994618 0.824961
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2; FHL2
OMENN SYNDROME0.994579 0.887879
             0.9985423 0.31229
DEAFNESS, AUTOSOMAL DOMINANT NONSYNDROMIC SENSORINEURAL 17; DFNA17 COCHLEOSACCULAR DEGENE
             0.6859161 0.362749
CONE-ROD DYSTROPHY 7; CORD7
             0.9997757 0.977686
HEREDITARY MYOPATHY WITH EARLY RESPIRATORY FAILURE; HMERF
              0.010989 0.012335
HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT, 3; HCHOLA3
             0.8618524 0.997421
HYPERCHOLESTEROLEMIA, AUTOSOMAL RECESSIVE; ARH
                      1 0.953129
VENTRICULAR FIBRILLATION, PAROXYSMAL FAMILIAL; VF
                      1 0.967145
LONG QT SYNDROME 3; LQT3
                      1 0.487441
MEDULLARY CYSTIC KIDNEY DISEASE 2; MCKD2
             0.3243213 WITH VANISHING WHITE MATTER; VWM
LEUKOENCEPHALOPATHY0.446489
             0.5782687 0.830231
SICKLE CELL ANEMIA
             0.9993272 0.993272
INTERVERTEBRAL DISC DISEASE; IDD
              0.996636 0.573223
CERVICAL CANCER
             0.6659565 0.868244
MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS; MLC
             0.9918695 0.998935
HYPOALPHALIPOPROTEINEMIA, PRIMARY
             0.9997757 0.996972
CONE-ROD DYSTROPHY 3; CORD3
                      1 0.989123
EPIDERMOLYSIS BULLOSA PRURIGINOSA
             0.9992151 0.992039
CARDIOMYOPATHY, DILATED, 1G; CMD1G
             0.9955703    VENTRICULAR MYOCARDIUM, FAMILIAL ISOLATED, AUTOSOMAL DOMINANT 1; LVNC1
NONCOMPACTION OF LEFT0.57082
             0.6819915 0.545302
ENCEPHALOPATHY, FAMILIAL, WITH NEUROSERPIN INCLUSION BODIES; FENIB
             0.7634885 0.773976
CATARACT, AUTOSOMAL DOMINANT
             0.9960754 0.581745
PETERS ANOMALY
             EPILEPSY 0.183337
GENERALIZED 0.9971967 WITH FEBRILE SEIZURES PLUS; GEFS+
             0.9561561 0.998991
HEMOCHROMATOSIS, TYPE 3; HFE3
             0.3464902 0.632092
ATPAF2 DEFICIENCY
             0.9998879 0.953689
MOVED TO 137920
             0.9871047 0.999776
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2E; LGMD2E
             0.9055842
ACERULOPLASMINEMIA 0.672684
             0.9997757 0.683225
ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3; EEC3
                      1 0.999664
CATARACT, COPPOCK-LIKE; CCL
             0.2788742 0.259699
SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 1; DSMA1
             0.5367276 0.30397
ADVANCED SLEEP-PHASE SYNDROME, FAMILIAL
             0.9027809 0.666629
LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3; FPLD3
             0.9973088 0.75813
OVARIAN CANCER, EPITHELIAL
             0.9710697
NEPHRONOPHTHISIS 3; NPHP3 1
             0.9275622 0.992263
ATAXIA-TELANGIECTASIA-LIKE DISORDER; ATLD
             0.9800404 0.217313
LEBER CONGENITAL AMAUROSIS, TYPE IV; LCA4
             0.8957165 0.947746
PYOGENIC STERILE ARTHRITIS, PYODERMA GANGRENOSUM, AND ACNE
             0.9240861 0.867795
AMEGAKARYOCYTIC THROMBOCYTOPENIA, CONGENITAL; CAMT
             DYSPLASIA/SKIN FRAGILITY SYNDROME
ECTODERMAL 0.9703969 0.998767
             0.9776856 0.999888
TOOTH AGENESIS, SELECTIVE, 3; STHAG3
              INTOLERANCE
ORTHOSTATIC0.4006504 0.429581
             0.9925992 0.759139
CRANIOSYNOSTOSIS, TYPE 2; CRS2
             0.9939448 0.986768
CARDIOMYOPATHY, DILATED, 1I; CMD1I
             TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1; CPVT1
VENTRICULAR 0.8562297 0.925199
             0.9984301 0.999215
OSTEOARTHRITIS WITH MILD CHONDRODYSPLASIA
             0.7979702
SCHIZOPHRENIA 9; SCZD90.782214
             0.9831801 0.824176
LYMPHOMA, NON-HODGKIN, FAMILIAL
             0.8467145 PAPILLARY
RENAL CELL CARCINOMA,0.851088
             0.9919264 0.858713
HYPERTENSION, EARLY-ONSET, AUTOSOMAL DOMINANT, WITH SEVERE EXACERBATION IN PREGNANCY
             0.9989908 0.922516
DEAFNESS, AUTOSOMAL DOMINANT 23; DFNA23
             0.9998879 0.128168
SEBASTIAN SYNDROME; SBS
              CONGENITAL HYPOMYELINATING
NEUROPATHY,0.9997757 0.892852
             0.4227405 0.720117
IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 2
             0.8478358 AUTOSOMAL DOMINANT; SPG13
SPASTIC PARAPLEGIA 13, 0.974882
             0.9995515 0.180534
SPLIT-HAND/FOOT MALFORMATION 4; SHFM4
             0.9997757 0.824961
DEAFNESS, CONGENITAL NEUROSENSORY, AUTOSOMAL RECESSIVE 10; DFNB10
               0.875869 0.953241
NEMALINE MYOPATHY 5; NEM5
             0.8649922 0.740076
SPINOCEREBELLAR ATAXIA 14; SCA14
             0.9521193 0.998991
EPILEPSY, NOCTURNAL FRONTAL LOBE, TYPE 3
             0.7647455 0.970285
SEGAWA SYNDROME, AUTOSOMAL RECESSIVE
             0.9989346 MULTIPLE
BASAL CELL CARCINOMA, 0.610687 BASAL CELL CARCINOMA CAUSED BY SOMATIC MUTATION, INCLUDED
              BENIGN 0.999888
CHOLESTASIS,0.9998879RECURRENT INTRAHEPATIC 2
             0.9994393         1
CARDIOMYOPATHY, DILATED, WITH WOOLLY HAIR AND KERATODERMA
             0.8653285 0.856022
DERMATITIS, ATOPIC, 4; ATOD4
                        0.401099
LEIOMYOMATOSIS AND1RENAL CELL CANCER, HEREDITARY
             0.1122014 0.548222
GLYCINE ENCEPHALOPATHY; GCE
             0.2925544 0.345145
TRANSALDOLASE DEFICIENCY
             0.0170461 0.019513
PROPIONIC ACIDEMIA
             0.9952904 0.997309
HEMOCHROMATOSIS, TYPE 4; HFE4
             0.9997757 0.995066
RIPPLING MUSCLE DISEASE; RMD RIPPLING MUSCLE DISEASE 2, INCLUDED; RMD2, INCLUDED
             0.9423638 ADULT-ONSET
BASAL GANGLIA DISEASE,0.195111
             0.9995514 0.995514
DIABETES MELLITUS, PERMANENT NEONATAL; PNDM
             0.2701278 0.056627
CHROMOSOME 22q13.3 DELETION SYNDROME
             0.9760036 0.456941
PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET; PARK7
             0.9989908 0.839874
DEAFNESS, AUTOSOMAL DOMINANT NONSYNDROMIC SENSORINEURAL 22; DFNA22 DEAFNESS, SENSORINEURAL,
                      1 0.911415
PRIMARY LATERAL SCLEROSIS, JUVENILE; PLSJ
               RECEPTOR, ALPHA,
INTERLEUKIN 2 0.679861 0.808702 DEFICIENCY OF
             0.9993272 0.999551
MATURITY-ONSET DIABETES OF THE YOUNG, TYPE IV; MODY4
             0.9730881 0.999551
MATURITY-ONSET DIABETES OF THE YOUNG, TYPE VI; MODY6
             0.1189729 0.996524
EHLERS-DANLOS-LIKE SYNDROME DUE TO TENASCIN-X DEFICIENCY
             0.9967481 0.998767
MYOKYMIA WITH NEONATAL EPILEPSY
LIG4 SYNDROME0.3711595 0.921283
             0.9994393 0.585221
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2F
             0.0416013 0.672684
SHORT STATURE, PITUITARY AND CEREBELLAR DEFECTS, AND SMALL SELLA TURCICA
             0.9843014 0.960978
NONCOMPACTION OF LEFT VENTRICULAR MYOCARDIUM WITH CONGENITAL HEART DEFECTS
             0.9998879 0.60148
GLAUCOMA, NORMAL TENSION, SUSCEPTIBILITY TO
             0.5339762 0.723817
GLYCINE N-METHYLTRANSFERASE DEFICIENCY
             0.9975331 0.995178
CARDIOMYOPATHY, DILATED, 1L; CMD1L
             ENCEPHALOPATHY
SPONGIFORM 0.9998879 0.909285WITH NEUROPSYCHIATRIC FEATURES
             0.9800404 0.983068
LYMPHANGIOLEIOMYOMATOSIS; LAM
             0.7186589 0.961538
HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 6; HHF6
             0.9541377 0.627495
GASTROINTESTINAL STROMAL TUMOR; GIST
             0.9996636 ANTERIOR TIBIAL ONSET; DMAT
MYOPATHY, DISTAL, WITH0.998542
             0.6884952 0.837968
GLUCOSE TRANSPORT DEFECT, BLOOD-BRAIN BARRIER
             0.6074232 0.977573
BLEPHAROSPASM, BENIGN ESSENTIAL
                     1
FUMARASE DEFICIENCY 0.977461
             0.3036555 0.900202
GLUCOSE/GALACTOSE MALABSORPTION; GGM
             0.9063691 0.996972
IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 3
             0.9947298 0.920498
ALZHEIMER DISEASE 4
             0.9142366 0.735345
EPILEPSY, JUVENILE MYOCLONIC; JME
             0.9959632
USHER SYNDROME, TYPE IG; USH1G 1
             0.9998879         1
ALBINISM, OCULOCUTANEOUS, TYPE IB; OCA1B
             0.9998879 0.999439
NEPHRONOPHTHISIS 4; NPHP4
             0.9998879 0.999551
SENIOR-LOKEN SYNDROME 4; SLSN4
             0.9965239 0.921395
HURLER SYNDROME
             0.9976452 0.887531
HURLER-SCHEIE SYNDROME
             0.9996636 0.997085
EPIPHYSEAL DYSPLASIA, MULTIPLE, 5; EDM5
             0.8858488 0.156649
GONADAL DYSGENESIS, 46,XY, PARTIAL, WITH MINIFASCICULAR NEUROPATHY GONADAL DYSGENESIS, 46,XY, PU
             0.3349406 0.664947
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IId; CDG2D
             0.2352545 0.907715
DEAFNESS, AUTOSOMAL RECESSIVE 30; DFNB30
              0.998318
CINCA SYNDROME; CINCA0.941579
                     1 0.999215
CATARACT, SUTURAL, WITH PUNCTATE AND CERULEAN OPACITIES
             0.7499439 0.422628
SPINOCEREBELLAR ATAXIA 17; SCA17
             0.9853106 0.999888
THYROID HORMONOGENESIS, GENETIC DEFECT IN, 6
                     1 0.718883
SPASTIC PARALYSIS, INFANTILE-ONSET ASCENDING; IAHSP
             0.1834492    AUTOSOMAL RECESSIVE, WITH AXONAL NEUROPATHY; SCAN1
SPINOCEREBELLAR ATAXIA,0.0573
             0.1686477 0.29076
SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE; SPG7
              0.528706 0.908612
RESTING HEART RATE
             0.9389998 0.994618
CHOLESTERYL ESTER TRANSFER PROTEIN DEFICIENCY
              0.978022 0.947746
FOCAL CORTICAL DYSPLASIA OF TAYLOR; FCDT
             0.8850639 0.861068
DYSTONIA, JUVENILE-ONSET
             0.9812738 0.81913
COENZYME Q10 DEFICIENCY
              0.992375
LISSENCEPHALY 1; LIS1 0.914218
             0.9986544 0.989235
ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 8; ARVD8
             0.3286611 0.704418
SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS; SANDO SPINOCEREBELLAR ATAXIA WI
             0.9994393 0.995963
BOTHNIA RETINAL DYSTROPHY
             0.9994393 0.970173
NEWFOUNDLAND ROD-CONE DYSTROPHY; NFRCD
             0.6593407 0.70767
CARDIOMYOPATHY, DILATED, 1M; CMD1M
                     1 0.998094
FRONTOTEMPORAL LOBAR DEGENERATION WITH UBIQUITIN-POSITIVE INCLUSIONS; FTLDU
             0.9936084 0.998206
CARDIOMYOPATHY, DILATED, 1N; CMD1N
                     ISOLATED
TOENAIL DYSTROPHY, 1 0.985198
                     1 0.972864
CORNEAL DYSTROPHY, AVELLINO TYPE; CDA
             0.9991029 0.986208
ATRIAL FIBRILLATION, FAMILIAL, 3; ATFB3
             0.0115497 0.013007
ICOS DEFICIENCY
             0.9929356 0.717313
BRAIN SMALL VESSEL DISEASE WITH HEMORRHAGE
                     1 0.985198
EPIDERMOLYSIS BULLOSA DYSTROPHICA WITH SUBCORNEAL CLEAVAGE; EBDSC
             0.9979253 0.99658
ICHTHYOSIS, CYCLIC, WITH EPIDERMOLYTIC HYPERKERATOSIS
              DISEASE, 0.792779
NIEMANN-PICK0.9996636 TYPE B
             0.9046871 0.991142
GRISCELLI SYNDROME, TYPE 2; GS2
              DISEASE, 0.211034
NIEMANN-PICK0.5359946 TYPE C2
             0.9998879 0.694326
OSTEOPETROSIS, AUTOSOMAL DOMINANT 1; OPTA1
                      1 0.800628
VAN BUCHEM DISEASE, TYPE 2
             0.8282126 HEREDITARY MOTOR, TYPE VIIB; HMN7B
NEURONOPATHY, DISTAL 0.813299
                      1 0.998206
KERATOSIS PALMOPLANTARIS STRIATA III
             0.9996636         1
SKIN FRAGILITY-WOOLLY HAIR SYNDROME
                      1 0.999103
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2I
             0.9978695 0.898183
CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1D; CMT1D
             0.9996636 0.881812
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E
             0.4181339 0.469496
HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC; HES
             0.9992151 0.97948
CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1F
                      1 0.999888
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2J
             0.9974209 0.198924
SEIZURES, BENIGN FAMILIAL NEONATAL-INFANTILE
             0.4986543 0.841875
HYPERCHOLANEMIA, FAMILIAL; FHCA
             0.9976452 0.45582
ACROCAPITOFEMORAL DYSPLASIA; ACFD
             0.8273135 0.585726
JUVENILE MYELOMONOCYTIC LEUKEMIA; JMML
                      1 0.999551
CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE D
             0.9997757 0.995851
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1C; LGMD1C
             0.0959856 0.067616
CRANIOLENTICULOSUTURAL DYSPLASIA; CLSD
             0.9986544 0.347499
DEAFNESS, CONGENITAL NEUROSENSORY, AUTOSOMAL RECESSIVE 37; DFNB37
             0.9974209 0.998094
ALZHEIMER DISEASE 3
             0.4266652 0.830792
HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA SYNDROME
             0.9499888 0.983965
FOCAL SEGMENTAL GLOMERULOSCLEROSIS 3; FSGS3
             0.3217089 0.833819
DEAFNESS, AUTOSOMAL DOMINANT NONSYNDROMIC SENSORINEURAL, DUE TO MUTATION IN MYO1A
              NONIMMUNE CHRONIC IDIOPATHIC, OF ADULTS
NEUTROPENIA, 0.998318 0.067055
             0.9996636 0.994842
HAND OSTEOARTHRITIS; HOA
             0.5074008 0.999439
MUSCULAR DYSTROPHY, CONGENITAL MEROSIN-DEFICIENT, 1A; MDC1A
             0.9254317 0.770913
CAUDAL DUPLICATION ANOMALY
              0.093743 0.332362
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ii; CDG1I
              0.923629 0.686329
DERMATOFIBROSARCOMA PROTUBERANS; DFSP
             0.9810496 0.999664
ATRIAL SEPTAL DEFECT 2; ASD2
                      1 0.970621
GAUCHER DISEASE, PERINATAL LETHAL
              0.960305 0.998991
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2D; LGMD2D
             0.3480601 0.615609
IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 5
             0.9986544 0.818906
OVARIAN HYPERSTIMULATION SYNDROME
             0.8830455 0.836286
SYNPOLYDACTYLY 2; SPD2
             0.9955147 0.994954
CONE-ROD DYSTROPHY 9; CORD9
             0.6998206 0.258242
NEUTROPHIL IMMUNODEFICIENCY SYNDROME
             0.7701278 0.858937
LEUKEMIA, CHRONIC MYELOID; CML
             0.9720789 0.753981
HERMANSKY-PUDLAK SYNDROME 2; HPS2
             0.7016147 0.903117
CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 1; ADCAD1
              0.481386 0.107311
CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE C
             0.9998879 0.993833
WEILL-MARCHESANI SYNDROME, AUTOSOMAL DOMINANT
                      1 0.629065
CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION
PARKES WEBER SYNDROME 1 0.599798
             0.9973088 0.133326
MYOPATHY, MYOSIN STORAGE
             0.9992151 0.978583
BRANCHIOOTIC SYNDROME 3; BOS3
                      1 0.720565
MYOTONIA, POTASSIUM-AGGRAVATED
             0.9993272 0.800852
PLATELET GLYCOPROTEIN IV DEFICIENCY
                 0.0878 0.862637
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 3; MRT3
             0.9994393 0.942924
COLORECTAL ADENOMATOUS POLYPOSIS, AUTOSOMAL RECESSIVE
                       OF BOWMAN
CORNEAL DYSTROPHY1 0.934739 LAYER, TYPE I; CDB1
              0.522763 0.475219
MAJOR DEPRESSIVE DISORDER; MDD
             DISEASE, 0.127831
LEGIONNAIRE 0.2936757 SUSCEPTIBILITY TO
              0.147791 0.125701
MYOCARDIAL INFARCTION, SUSCEPTIBILITY TO, 2
MOVED TO 204650       1 0.948755
                      1 AUTOSOMAL RECESSIVE; SSS1
SICK SINUS SYNDROME 1,0.956829
             0.7987217 0.094192
CARDIOMYOPATHY, DILATED, 1O; CMD1O
             0.4429244 0.711819
RIBOSE 5-PHOSPHATE ISOMERASE DEFICIENCY
             0.9980937 0.995066
OLIGODONTIA-COLORECTAL CANCER SYNDROME
             0.5706436 0.149809
HYPERTENSION, DIASTOLIC, RESISTANCE TO
             0.9968603 0.769119
MOVED TO 276300
             0.1870375 0.099798
AMYOTROPHIC LATERAL SCLEROSIS 8; ALS8
             0.9996636 0.25869
NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIB; HMN2B
              0.016932 0.019175
DEAFNESS, AUTOSOMAL DOMINANT NONSYNDROMIC SENSORINEURAL 28; DFNA28
              HEREDITARY SENSORY AND AUTONOMIC, TYPE V; HSAN5
NEUROPATHY,0.7934514 0.912873
             0.0281453 0.031734
AICAR TRANSFORMYLASE/IMP CYCLOHYDROLASE, DEFICIENCY OF
             0.2654183 0.898183
BARRAQUER-SIMONS SYNDROME
             0.9987665 0.479143
MICROCEPHALY, PRIMARY AUTOSOMAL RECESSIVE, 5; MCPH5
             0.9996636 0.997533
SPONDYLOEPIMETAPHYSEAL DYSPLASIA, MATRILIN-3 RELATED
                0.99159 0.198699
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 8; CMH8
              0.994954 0.606863
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 10; CMH10 CARDIOMYOPATHY, HYPERTROPHIC, MID-LEFT VENTRIC
             0.4021081 0.466809
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Il; CDG1L
             0.5943037 0.331913
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIe; CDG2E
             0.2117067 0.818121
PYRUVATE DEHYDROGENASE PHOSPHATASE DEFICIENCY
             0.0408163 0.263288
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ie; CDG1E
                      1 0.959072
AVASCULAR NECROSIS OF FEMORAL HEAD, PRIMARY
                      1 0.99002
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J; LGMD2J
             0.0884728 0.733236
TRANSPOSITION OF THE GREAT ARTERIES, DEXTRO-LOOPED 1; DTGA1
             0.9740973 0.984189
ALPHA-B CRYSTALLINOPATHY
OROFACIAL CLEFT 5 1 0.983629
             0.8193541 0.427786
MACULAR DEGENERATION, AGE-RELATED, 3; ARMD3
             0.8652164 0.899978
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 3; FHL3
             0.9968039 CONGENITAL, FAST-CHANNEL
MYASTHENIC SYNDROME,0.995626
             0.9681845 CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY
MYASTHENIC SYNDROME,0.999065
             0.9002018 0.944046
CD8 DEFICIENCY, FAMILIAL
             0.8792755 0.970786
SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-POSITIVE, NK CELL
             0.9978695 0.367459
PREMATURE OVARIAN FAILURE 3; POF3
             0.7380579 DEFICIENCY
TRIFUNCTIONAL PROTEIN0.805898
                     MINProp CIPHER DN
Mean_ROC              0.862856 0.737998
Std_ROC               0.234008 0.290929

Phenotype                ROC       ROC
ACHONDROPLASIA; ACH       0.999776 0.549731
                          0.999215
NEUROFIBROMATOSIS, TYPE II; NF2 0.975661
                          0.998318
SAETHRE-CHOTZEN SYNDROME; SCS 0.251989
                          0.997421 0.753803
ACROKERATOSIS VERRUCIFORMIS; AKV
                          0.997757 0.45963
ADENOSINE TRIPHOSPHATE, ELEVATED, OF ERYTHROCYTES
ADULT SYNDROME            0.999888 0.377721
                          0.999832 0.605103
ALBINISM, OCULAR, WITH SENSORINEURAL DEAFNESS
                          0.982113 0.640768
GLUCOCORTICOID-REMEDIABLE ALDOSTERONISM; GRA
ALZHEIMER DISEASE; AD      0.95189 0.928137
ALZHEIMER DISEASE 2        0.92588 0.998362
                                 1 0.823543
AMELOGENESIS IMPERFECTA, TYPE IB; AI1B
AMYLOIDOSIS V             0.851088 0.979172
AMYLOIDOSIS VI            0.799843 0.575339
                          0.904778 0.68157
AMYLOIDOSIS, FAMILIAL VISCERAL
AMYLOIDOSIS VII           0.834604 0.894946
                          0.746944 0.808052
AMYOTROPHIC LATERAL SCLEROSIS 1; ALS1
                          0.484414 0.330136
DIAMOND-BLACKFAN ANEMIA; DBA
ANGELMAN SYNDROME; AS 0.820063 0.328652
ANGIOEDEMA, HEREDITARY; HAE0.80074 0.838287
                          0.999664 0.395882
ANKYLOBLEPHARON-ECTODERMAL DEFECTS-CLEFT LIP/PALATE
                          0.999888 0.995087
TOOTH AGENESIS, SELECTIVE, 1; STHAG1
                           0
ANTITHROMBIN III DEFICIENCY.97791 0.963492
                          0.971182
TOWNES-BROCKS SYNDROME; TBS 0.689986
                          TYPE 1; 0.710274
ARTHROGRYPOSIS, DISTAL, 0.729872DA1
STICKLER SYNDROME, TYPE I; STL11 0.841563
ATRIAL STANDSTILL         0.999551    0.2022
                          0.997645 0.999532
ATRIAL SEPTAL DEFECT WITH ATRIOVENTRICULAR CONDUCTION DEFECTS
                          0.993496
BASAL CELL NEVUS SYNDROME; BCNS0.857711
BLADDER CANCER             0.99656 0.817182
                          BDA1
BRACHYDACTYLY, TYPE A1; 0.997869 0.710274
                          BDA2
BRACHYDACTYLY, TYPE A2; 0.927114 0.997426
BRACHYDACTYLY, TYPE C; BDC0.999888 0.988533
                           0.93546 0.808169
BRANCHIOOTORENAL SYNDROME 1; BOR1
                          0.983741
BREAST CANCER 1 GENE; BRCA1                1
                           0.99815 0.613854
BULLOUS ERYTHRODERMA ICHTHYOSIFORMIS CONGENITA OF BROCQ
                                 1    0.2022
PROGRESSIVE FAMILIAL HEART BLOCK, TYPE IA; PFHB1A
CAMPOMELIC DYSPLASIA 0.602041 0.91809
BREAST CANCER             0.947229 0.933505
COLORECTAL CANCER; CRC 0.99843 0.919007
HEPATOCELLULAR CARCINOMA  0.647583 0.472144
                          0.909443 0.688319
CARDIOFACIOCUTANEOUS SYNDROME
                          0.992263 0.701615
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 3; CMH3
                          0.914331 0.969342
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 4; CMH4
                          0.894497 0.52333
CARDIOMYOPATHY, DILATED, 1A; CMD1A
                          0.879794 0.974725
CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1; RCM1
                          0.719332 0.354001
LEUKOCYTE ADHESION DEFICIENCY, TYPE I; LAD
                           0.99316
CENTRAL CORE DISEASE OF MUSCLE 0.945004
                         0.998991 0.936344
DEMENTIA, FAMILIAL DANISH; FDD
SOTOS SYNDROME           0.997645 0.686637
                         0.999607 0.826937
CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1B; CMT1B
                         0.999888        1
CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1A; CMT1A
                         0.999888
CHARCOT-MARIE-TOOTH DISEASE AND DEAFNESS 1
                         0.965912 0.711511
ALAGILLE SYNDROME 1; ALGS1
                         0.771249
CHOREA, BENIGN HEREDITARY; BHC 0.838989
                         0.809935 0.850456
CLEIDOCRANIAL DYSPLASIA; CCD
COLOBOMA, OCULAR          0.99843 0.91809
PAPILLORENAL SYNDROME 0.855237 0.968406
LYNCH SYNDROME I          0.99686 0.978235
                         4, PARTIAL DEFICIENCY OF
COMPLEMENT COMPONENT 0.821821 0.717763
                         5; C5
COMPLEMENT COMPONENT 0.966024 0.997894
                         8 DEFICIENCY, TYPE
COMPLEMENT COMPONENT 0.932608 0.999766 I
                         8 DEFICIENCY, TYPE II
COMPLEMENT COMPONENT 0.967257            1
                         0.983068 0.994851
CONE-ROD DYSTROPHY 2; CORD2
                         0.891904 0.998596
CONTRACTURAL ARACHNODACTYLY, CONGENITAL
                         0.997757
EPILEPSY, BENIGN NEONATAL, 1; EBN1       1
                         0.937878
EPILEPSY, BENIGN NEONATAL, 2; EBN20.999298
                                1 0.965364
GROENOUW TYPE I CORNEAL DYSTROPHY; CDGG1
                                1   CDL1
CORNEAL DYSTROPHY, LATTICE TYPE I;0.94759
                         0.998654 0.900304
CRANIOFACIAL-DEAFNESS-HAND SYNDROME; CDHS
                         0.999888 0.999298
CREATINE PHOSPHOKINASE, ELEVATED SERUM
                                1
CREUTZFELDT-JAKOB DISEASE; CJD 0.959747
CROUZON SYNDROME         0.999888 0.613152
                         0.981722
CUTIS LAXA, AUTOSOMAL DOMINANT 0.40992
                         0
DARIER-WHITE DISEASE; DAR.996524 0.634768
                                1 0.987599
DEAFNESS, CONGENITAL, WITH KERATOPACHYDERMIA AND CONSTRICTIONS OF FINGERS AND TOES
                         0.637251 0.628919
DEAFNESS, AUTOSOMAL DOMINANT NONSYNDROMIC SENSORINEURAL 1; DFNA1
                         AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPAT
CEREBRAL ARTERIOPATHY, 0.842117 0.986894
                         0.999551 0.622045
DENTATORUBRAL-PALLIDOLUYSIAN ATROPHY; DRPLA
                         0.838865 0.970044
DIABETES INSIPIDUS, NEUROHYPOPHYSEAL TYPE
                         0.037901 0.351978
DIABETES INSIPIDUS, NEPHROGENIC, AUTOSOMAL
                         0.839915 0.682229
DIABETES MELLITUS, NONINSULIN-DEPENDENT; NIDDM
                          0.91904 0.996022
DOYNE HONEYCOMB RETINAL DYSTROPHY; DHRD
                         0.238058 0.259476
DYSCHROMATOSIS SYMMETRICA HEREDITARIA 1
DEMENTIA, LEWY BODY; DLB 0.999551 0.998362
                         0.764185 0.928872
DYSTONIA 1, TORSION, AUTOSOMAL DOMINANT; DYT1
                         0.974209
DYSTONIA, DOPA-RESPONSIVE; DRD 0.127281
DYSTONIA 12; DYT12       0.719892 0.940337
                         ED3
ECTODERMAL DYSPLASIA 3; 0.999776         1
                         HIDROTIC; ED2
ECTODERMAL DYSPLASIA 2, 0.997869 0.999766
ECTOPIA LENTIS, ISOLATED 0.999888 0.993681
                         0.996523
EHLERS-DANLOS SYNDROME, TYPE I 0.531991
                         0.987103
EHLERS-DANLOS SYNDROME, TYPE II 0.363445
                         0.995066
EHLERS-DANLOS SYNDROME, TYPE III 0.501287
                         0.996524 AUTOSOMAL DOMINANT
EHLERS-DANLOS SYNDROME, TYPE IV,0.422186
                         0.999159 0.583314
EHLERS-DANLOS SYNDROME, TYPE VII, AUTOSOMAL DOMINANT
                         0.996748 0.96396
ELLIPTOCYTOSIS, RHESUS-UNLINKED TYPE
                         0.844286 0.838249
BECKWITH-WIEDEMANN SYNDROME; BWS
                          0.99843 0.681797
MULTIPLE ENDOCRINE NEOPLASIA, TYPE I; MEN1
                         0.848172 0.989237
CAMURATI-ENGELMANN DISEASE
                                 OF THE NEWBORN; TBDN
TRANSIENT BULLOUS DERMOLYSIS 1 0.995087
                                 1 0.995788
EPIDERMOLYSIS BULLOSA DYSTROPHICA, PASINI TYPE
                          0.999776 0.994616
EPIDERMOLYSIS BULLOSA HERPETIFORMIS, DOWLING-MEARA TYPE
                          0.999888 0.995084
EPIDERMOLYSIS BULLOSA OF HANDS AND FEET
                                 1
EPIDERMOLYSIS BULLOSA, PRETIBIAL 0.995553
                          0.999888 0.97507
EPIDERMOLYSIS BULLOSA SIMPLEX, KOEBNER TYPE; EBS2
                          0.998879 0.988299
EPIDERMOLYSIS BULLOSA SIMPLEX, OGNA TYPE
                          0.999664         1
EPIDERMOLYSIS BULLOSA SIMPLEX WITH MOTTLED PIGMENTATION; EBS-MP
                                 1 0.995319
EPIDERMOLYSIS BULLOSA WITH CONGENITAL LOCALIZED ABSENCE OF SKIN AND DEFORMITY OF NAILS
                          0.998767 EDM1
EPIPHYSEAL DYSPLASIA, MULTIPLE, 1; 0.997426
                          0.999664 0.878306
EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH MYOPIA AND CONDUCTIVE DEAFNESS
PILOMATRIXOMA             0.942252 0.949216
                          0.660686
CYLINDROMATOSIS, FAMILIAL; CYLD 0.734379
                          0.802758 0.814416
ERYTHROCYTOSIS, FAMILIAL, 1
                          0.997533 0.956237
ESOPHAGEAL CANCER ESOPHAGEAL SQUAMOUS CELL CARCINOMA, INCLUDED; ESCC, INCLUDED
                          0.645768
EWING SARCOMA BREAKPOINT REGION0.478031; EWSR1
                          0.999776
EXOSTOSES, MULTIPLE, TYPE I                1
                          0.999215 0.999766
EXOSTOSES, MULTIPLE, TYPE II
                          0.745038 0.264506
EXUDATIVE VITREORETINOPATHY 1; EVR1
FACTOR VIII DEFICIENCY    0.999439         1
                          0.997869 0.939153
FAMILIAL MEDITERRANEAN FEVER, AUTOSOMAL DOMINANT
                           0.85804 0.985022
FIBRODYSPLASIA OSSIFICANS PROGRESSIVA; FOP
                          0.999664 0.990405
DESMOID DISEASE, HEREDITARY
                          0.747589
FIBROMATOSIS, GINGIVAL, 1; GINGF 0.842967
FISH-EYE DISEASE; FED     0.999439 0.997192
FRASIER SYNDROME                 1 0.934472
                          0.982337 0.996255
FUNDUS ALBIPUNCTATUS RETINITIS PUNCTATA ALBESCENS, INCLUDED
                          0.886297 0.996256
FUNDUS DYSTROPHY, PSEUDOINFLAMMATORY, OF SORSBY; SFD
                                 1 0.937983
GENITOURINARY DYSPLASIA COMPONENT OF WAGR SYNDROME; GUD
GERSTMANN-STRAUSSLER DISEASE; GSD1 0.933302
                          A; GLC1A
GLAUCOMA 1, OPEN ANGLE, 0.908275 0.958821
                          ANGLE; 0.920665
GLAUCOMA, PRIMARY OPEN0.999776 POAG
GLIOMA OF BRAIN, FAMILIAL0.923573 0.652937
                          0.999327 0.979176
RENAL CYSTS AND DIABETES SYNDROME
                          0.666966
GLOMUVENOUS MALFORMATIONS; GVM0.48865
                          0.774165 0.872455
AROMATASE EXCESS SYNDROME; AEXS
                          0.999888
GUILLAIN-BARRE SYNDROME, FAMILIAL; GBS 1
HAW RIVER SYNDROME        0.999776 0.506083
                          0.999047
HEMATURIA, BENIGN FAMILIAL; BFH 0.896536
                          0.929908 0.599204
HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1; HSCR1
                           0.82126 0.969108
PERIODIC FEVER, FAMILIAL, AUTOSOMAL DOMINANT
HOLT-ORAM SYNDROME; HOS   0.918816 0.995087
HOLOPROSENCEPHALY 3; HPE3 0.999776 0.795226
HOLOPROSENCEPHALY 4; HPE4 0.653958 0.541306
HUNTINGTON DISEASE; HD 0.828549 0.811608
                          0.866674 0.979176
ATTENTION DEFICIT-HYPERACTIVITY DISORDER; ADHD
                          0.889886 0.999298
HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT
                          0.896501 0.999532
HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT, TYPE B
                          0.737468 0.716292
RENAL CELL CARCINOMA 1; RCC1
                          0.999888 0.451205
HYPEROSTOSIS CORTICALIS GENERALISATA, BENIGN FORM OF WORTH, WITH TORUS PALATINUS
                           0.99843 0.621109
HYPERPARATHYROIDISM 1; HRPT1
                          0.569586 II; PHA2
PSEUDOHYPOALDOSTERONISM, TYPE 0.564007
HYPERTENSION, ESSENTIAL0.566046 0.455779
                        0.995515 0.93143
MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 1; MHS1
                        0.999663 0.671173
HYPERTROPHIC NEUROPATHY OF DEJERINE-SOTTAS
                        0.998879 0.399251
HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE I; HHC1
HYPOCHONDROPLASIA; HCH  0.999664 0.896092
                        0.553045 0.178095
HYPOGONADOTROPIC HYPOGONADISM
                        0.910508 0.618886
HYPOPARATHYROIDISM, FAMILIAL ISOLATED; FIH
                                1   TYPE;
ICHTHYOSIS HYSTRIX, CURTH-MACKLIN0.99883IHCM
                        0.999439 0.76527
SOLITARY MEDIAN MAXILLARY CENTRAL INCISOR; SMMCI
                                SYNDROME,
KERATITIS-ICHTHYOSIS-DEAFNESS 1 0.99766 AUTOSOMAL DOMINANT
                                1 0.997426
KERATODERMA, PALMOPLANTAR, WITH DEAFNESS
                        0.928571 0.994851
KERATOSIS PALMOPLANTARIS STRIATA I
                        0.998542 0.995085
WAARDENBURG SYNDROME, TYPE III; WS3
                        0.738365 0.439504
LACRIMOAURICULODENTODIGITAL SYNDROME; LADD
                         SYNDROME, TYPE
TRICHORHINOPHALANGEAL 0.999271 0.554762 II; TRPS2
LEOPARD SYNDROME 1      0.998767 0.498362
                                1 0.980814
PLATYSPONDYLIC LETHAL SKELETAL DYSPLASIA, TORRANCE TYPE; PLSDT
                        0.877327 0.924409
B-CELL CLL/LYMPHOMA 2; BCL2
                        0.999664 0.999766
LI-FRAUMENI SYNDROME 1; LFS1
                        0.940906 0.69436
SYSTEMIC LUPUS ERYTHEMATOSUS; SLE
                        0.643081 0.710274
LYMPHEDEMA, HEREDITARY, IA
                        0.999215 0.790779
BANNAYAN-RILEY-RUVALCABA SYNDROME; BRRS
                        0.673133 0.936344
CHROMOSOME 5q DELETION SYNDROME
FECHTNER SYNDROME; FTNS         1 0.372572
EPSTEIN SYNDROME                1 0.377721
                                1 0.999532
BERNARD-SOULIER SYNDROME, BENIGN AUTOSOMAL DOMINANT
MARFAN SYNDROME; MFS 0.999888 0.994851
MAY-HEGGLIN ANOMALY; MHA        1 0.44044
                                1 0.942195
THYROID CARCINOMA, FAMILIAL MEDULLARY; MTC
MEDULLOBLASTOMA         0.929865 0.750937
                          0.80601 CMM
MELANOMA, CUTANEOUS MALIGNANT; 0.987128
                        0.993496 0.943365
METAPHYSEAL CHONDRODYSPLASIA, JANSEN TYPE
                        0.991478 0.306972
METAPHYSEAL CHONDRODYSPLASIA, SCHMID TYPE; MCDS
KNIEST DYSPLASIA                1 0.990405
                        0.790424 0.961619
HOLOPROSENCEPHALY 2; HPE2
                        0.999551 0.221338
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT,
MUIR-TORRE SYNDROME; MTS0.996299 0.961962
MULLERIAN APLASIA         0.99843 0.94759
COWDEN DISEASE; CD      0.981608 0.692137
                          0.84963 0.988767
NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIA; HMN2A
BETHLEM MYOPATHY        0.943884 0.446551
                        0.006952 0.040019
FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1A; FSHMD1A
                        0.999103 0.969342
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1A; LGMD1A
                        0.662256 0.865902
MYELOID/LYMPHOID OR MIXED LINEAGE LEUKEMIA; MLL
                        0.489908 0.418109
MYOPATHY, CENTRONUCLEAR, AUTOSOMAL DOMINANT
                        0.999215 0.093589
MYOTONIA CONGENITA, AUTOSOMAL DOMINANT
                        0.989235 0.820309
CARNEY COMPLEX, TYPE 1; CNC1
                        0.886185 0.913878
NEMALINE MYOPATHY 3; NEM3
SCHWANNOMATOSIS         0.999776 0.943833
                        0.999888 0.99649
MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIB; MEN2B
                        0.999888         1
NEUROPATHY, HEREDITARY, WITH LIABILITY TO PRESSURE PALSIES; HNPP
CYCLIC HEMATOPOIESIS    0.887531 0.90007
NOONAN SYNDROME 1; NS1 0.988113 0.78839
                          0.998318 0.470396
NOONAN-LIKE/MULTIPLE GIANT CELL LESION SYNDROME
                          0.991814 0.576275
OCULODENTODIGITAL DYSPLASIA; ODDD
                          0.880915
SPINOCEREBELLAR ATAXIA 1; SCA1 0.955301
                          0.822382
SPINOCEREBELLAR ATAXIA 7; SCA7 0.923239
ENCHONDROMATOSIS, MULTIPLE0.994281 0.639448
                          0.999776
OSTEOGENESIS IMPERFECTA, TYPE I 0.533357
                          0.999383 0.607678
OSTEOGENESIS IMPERFECTA, TYPE IIA
                          0.999664
OSTEOGENESIS IMPERFECTA, TYPE IV0.437398
                          0.944712 0.502691
PACHYONYCHIA CONGENITA, TYPE 1; PC1
                            TYPE 2; 0.52036
PACHYONYCHIA CONGENITA,0.67932 PC2
                          0.662293 0.555087
PANCREATITIS, HEREDITARY; PCTT
PARIETAL FORAMINA; PFM 0.991702 0.99883
                          0.900942 0.506064
PARKINSON DISEASE; PD PARKINSONISM, INCLUDED
                          0.999776 0.999766
PARKINSON DISEASE, FAMILIAL, TYPE 1; PARK1
                          0.998879 PIGMENT
PATTERNED DYSTROPHY OF RETINAL 0.990405 EPITHELIUM
PELGER-HUET ANOMALY; PHA  0.987553 0.224146
                          0.862974 0.724081
ANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSIS
                           0.99972 0.581208
HYPOKALEMIC PERIODIC PARALYSIS; HOKPP
PERIODONTITIS, AGGRESSIVE, 1     1 0.321947
                          0.999776 0.909665
MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA; MEN2A
PICK DISEASE OF BRAIN            1        1
PIEBALD TRAIT; PBT         0.93586 0.529481
                           0.99686 0.882284
PITUITARY DWARFISM DUE TO ISOLATED GROWTH HORMONE DEFICIENCY, AUTOSOMAL DOMINANT
POLYCYSTIC KIDNEYS        0.939722 0.633014
                          0.521252 0.346127
POLYCYSTIC LIVER DISEASE; PCLD
                          PPD2
POLYDACTYLY, PREAXIAL II; 0.991702 0.802949
                          0.984356
JUVENILE POLYPOSIS SYNDROME; JPS0.858881
                          OF THE 0.945472
ADENOMATOUS POLYPOSIS 0.999776COLON; APC
                          0.837856 0.991107
PEUTZ-JEGHERS SYNDROME; PJS
PORENCEPHALY, FAMILIAL 0.986432 0.36953
                          0
PORPHYRIA CUTANEA TARDA.024557 0.093589
PORPHYRIA VARIEGATA       0.508579 0.355605
PRADER-WILLI SYNDROME; PWS0.521754 0.394337
                          0.840323 0.972385
PRECOCIOUS PUBERTY, MALE-LIMITED
                          0.999103 0.778844
PREMATURE CHROMATID SEPARATION TRAIT; PCS
                          0.999103 0.958821
DEMENTIA, FAMILIAL BRITISH; FBD
PROSTATE CANCER            0.78189 0.681804
                          0.962996 THROMBOTIC DISEASE DUE TO
PROTEIN C DEFICIENCY, CONGENITAL 0.997894
PROTEUS SYNDROME          0.998767 0.844138
                          PSACH
PSEUDOACHONDROPLASIA; 0.998767 0.996256
LIDDLE SYNDROME            0.94903 0.99368
                          0.994393 I, AUTOSOMAL DOMINANT
PSEUDOHYPOALDOSTERONISM, TYPE 0.737421
                          0.999888
PSEUDO-VON WILLEBRAND DISEASE 0.999298
                          0.814757
PULMONARY FIBROSIS, IDIOPATHIC 0.641236
                          0.857591 0.722911
PULMONARY HYPERTENSION, PRIMARY; PPH1
                          0.974546 0.995788
RENAL TUBULAR ACIDOSIS, DISTAL, AUTOSOMAL DOMINANT
                          DDD
DOWLING-DEGOS DISEASE; 0.999888 0.998596
                          0.820924 0.735611
RETINITIS PIGMENTOSA 1; RP1
RETINOBLASTOMA; RB1       0.992936 0.976597
RHEUMATOID ARTHRITIS; RA  0.464842 0.53324
ROBINOW-SORAUF SYNDROME   0.997869 0.251989
                               1 0.999766
ROUSSY-LEVY HEREDITARY AREFLEXIC DYSTASIA
                        0.894147
RUBINSTEIN-TAYBI SYNDROME; RSTS 0.969576
                        0.019063
ULNAR-MAMMARY SYNDROME; UMS 0.077913
SCHIZOPHRENIA; SCZD     0.539699 0.320927
                        0.999888 0.99766
SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME
SEPTOOPTIC DYSPLASIA    0.993384 0.99649
                        0.508935 0.422888
SMITH-MAGENIS SYNDROME; SMS
                        0.886185
SPHEROCYTOSIS, HEREDITARY; HS 0.848116
MYOPATHY, SPHEROID BODY0.99843 0.988299
                        0.718883
SPINOCEREBELLAR ATAXIA 2; SCA2 0.949684
                                CONGENITA;
SPONDYLOEPIPHYSEAL DYSPLASIA1 0.960215 SEDC
                        0.998094 0.601334
SPONDYLOEPIMETAPHYSEAL DYSPLASIA, STRUDWICK TYPE
STEATOCYSTOMA MULTIPLEX 0.993945 0.765793
                         0.99529 0.910601
POLYCYSTIC OVARY SYNDROME 1; PCOS1
SYNDACTYLY, TYPE III    0.994618 0.586473
TETRALOGY OF FALLOT     0.956221 0.868368
                        0.999888 0.655124
THANATOPHORIC DYSPLASIA, TYPE I; TD1
                        0.999888 TD2
THANATOPHORIC DYSPLASIA, TYPE II; 0.767197
                        0.914667 0.981516
THROMBOCYTHEMIA, ESSENTIAL
                         0.90166 0.613908
THROMBOPHILIA VENOUS THROMBOEMBOLISM, INCLUDED
                        0.999439 0.995788
THROMBOPHILIA DUE TO DEFICIENCY OF ACTIVATED PROTEIN C COFACTOR
                        0.801795 0.696442
THYROID CARCINOMA, PAPILLARY
                        0.999103 0.492628
THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT; GRTH
WITKOP SYNDROME         0.999215 0.964194
TUBEROUS SCLEROSIS; TS 0.989907 0.467119
                        0.991926 TO
ULCERATIVE COLITIS, SUSCEPTIBILITY0.302878
                        0
LONG QT SYNDROME 1; LQT1.999888 0.999532
                        0.997891 0.523023
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC; CMH
                        0.999776 0.960449
VENTRICULAR TACHYCARDIA, FAMILIAL
                        0.550684
VERTICAL TALUS, CONGENITAL; CVT 0.895156
                        0.997197 0.991341
HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL DOMINANT; ADHR
                        0.810383
VON HIPPEL-LINDAU SYNDROME; VHL 0.96467
VON WILLEBRAND DISEASE 0.999664 0.999064
                        0.998767 0.998362
WAARDENBURG SYNDROME, TYPE I; WS1
WHIM SYNDROME           0.861852 0.957875
                         0.54687
WILLIAMS-BEUREN SYNDROME; WBS 0.469024
WILMS TUMOR 1; WT1             1 0.905219
DENYS-DRASH SYNDROME; DDS      1 0.899602
                        0.999327 WOLF-HIRSCHHORN CHROMOSOME REGION, INCLUDED; WHCR, INCLUDED
WOLF-HIRSCHHORN SYNDROME; WHS0.898432
ZINC, ELEVATED PLASMA 0.882036 0.890007
ABETALIPOPROTEINEMIA; ABL0.77865 0.845812
ACHONDROGENESIS, TYPE II; ACG21 0.983384
CHONDRODYSPLASIA, GREBE TYPE1 0.982682
                        0.999888 0.977299
ACROMESOMELIC DYSPLASIA, HUNTER-THOMPSON TYPE
                        0.218771 0.076977
ACYL-CoA DEHYDROGENASE, MEDIUM-CHAIN, DEFICIENCY OF
                        0.017268 0.075573
ACYL-CoA DEHYDROGENASE, VERY LONG-CHAIN, DEFICIENCY OF
                        0.584838 0.585069
LIPOID CONGENITAL ADRENAL HYPERPLASIA
POR DEFICIENCY           0.99473 0.942429
                        0.905696 0.946888
ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 17-ALPHA-HYDROXYLASE DEFICIENCY
                        0.582866 0.495555
GLUCOCORTICOID DEFICIENCY 1; GCCD1
                        0.953018 0.997751
ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL FORM
                        0.875916 0.795286
AFIBRINOGENEMIA, CONGENITAL
                         0.999888
ALBINISM, OCULOCUTANEOUS, TYPE IA; OCA1A   1
                         0.999888
ALBINISM, OCULOCUTANEOUS, TYPE III; OCA31
                         0.377855 0.328668
HERMANSKY-PUDLAK SYNDROME; HPS
                         0.999551 0.997894
CORTICOSTERONE METHYLOXIDASE TYPE I DEFICIENCY
ALEXANDER DISEASE        0.911059 0.624288
ALKAPTONURIA              0.01682      0.073
                         0.994954 0.221338
ALPERS DIFFUSE DEGENERATION OF CEREBRAL GRAY MATTER WITH HEPATIC CIRRHOSIS
                         0.999776 0.915262
ALPORT SYNDROME, AUTOSOMAL RECESSIVE
                         0.995423 0.539607
LEBER CONGENITAL AMAUROSIS, TYPE I; LCA1
TANGIER DISEASE; TGD     0.991926 0.934925
                          ABS
ANTLEY-BIXLER SYNDROME;0.992263 0.489003
                         0.904351 0.996724
APOLIPOPROTEIN C-II DEFICIENCY
ARGININOSUCCINIC ACIDURIA0.078829 0.039073
                         0.789751 0.69139
ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY; GACI
ASPARTYLGLUCOSAMINURIA   0.128168 0.244793
ATAXIA-TELANGIECTASIA; AT0.893362 0.999532
                         0.983965 0.563773
ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA; EAOH
ATRANSFERRINEMIA          0.93586 0.992277
                         0.883988 0.587626
AUTONOMIC CONTROL, CONGENITAL FAILURE OF
                         0.178406 0.127233
BARDET-BIEDL SYNDROME; BBS
                         0.284773 II
BARE LYMPHOCYTE SYNDROME, TYPE0.176808
                         0.713327 0.597377
ATYPICAL MYCOBACTERIOSIS, FAMILIAL
SITOSTEROLEMIA           0.012448 0.053814
SECKEL SYNDROME 1        0.860058 0.873625
BLOOM SYNDROME; BLM      0.837183 0.967938
                         0.993048 0.859583
TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL; HFTC
LUNG CANCER              0.965044 0.936735
                         0.888092
CARBOXYPEPTIDASE N DEFICIENCY 0.932132
MARTSOLF SYNDROME         0.89538 0.981278
ZELLWEGER SYNDROME; ZS0.957931 0.998314
                         0.994841 0.991807
CEREBROOCULOFACIOSKELETAL SYNDROME 1; COFS1
                         0.999664
GRISCELLI SYNDROME, TYPE 1; GS1 0.975895
                         0.621888
CHEDIAK-HIGASHI SYNDROME; CHS 0.608472
                         0.996412 0.775333
CHONDRODYSPLASIA, BLOMSTRAND TYPE; BOCD
                         0.981162 0.999532
RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 1; RCDP1
                         0.988675 0.224146
HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA
CHONDROSARCOMA           0.999888          1
CIRRHOSIS, FAMILIAL      0.844847 0.892088
CITRULLINEMIA, CLASSIC 0.538574 0.333645
                         0.913816
COCKAYNE SYNDROME, TYPE A; CSA 0.989469
                         2 DEFICIENCY
COMPLEMENT COMPONENT 0.893025 0.989937
                         6 DEFICIENCY
COMPLEMENT COMPONENT 0.924871 0.873157
                          TYPE I
PLASMINOGEN DEFICIENCY,0.920161 0.611982
COSTELLO SYNDROME        0.948643 0.849789
                         0.681431 0.617131
HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 2; CHNG2
                         0.038466 0.118301
CRYPTORCHIDISM, UNILATERAL OR BILATERAL
                         0.763085 TYPE I
CUTIS LAXA, AUTOSOMAL RECESSIVE, 0.378579
CYSTATHIONINURIA         0.001121 0.019654
CYSTIC FIBROSIS; CF      0.997421 0.333645
                                 1 0.999532
DEAFNESS, NEUROSENSORY, AUTOSOMAL RECESSIVE 1; DFNB1
                         0.965235 0.221442
JERVELL AND LANGE-NIELSEN SYNDROME; JLNS1
                         0.088146 0.143308
POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY; PLOSL
                          0.999776 0.803885
DIABETES MELLITUS, INSULIN-DEPENDENT; IDDM
                          0.993945 0.99883
RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 2; RCDP2
                          0.782014
LACTASE DEFICIENCY, CONGENITAL 0.785681
LACTASE PERSISTENCE       0.314532 0.311652
                           SENSORY AND AUTONOMIC, TYPE III; HSAN3
NEUROPATHY, HEREDITARY0.766427 0.885326
                            SILVERMAN-HANDMAKER TYPE; DDSH
DYSSEGMENTAL DYSPLASIA, 0.99159 0.860988
                          0.984075 0.547391
ECTODERMAL DYSPLASIA, ANHIDROTIC
                          0.999327 0.430276
ROSSELLI-GULIENETTI SYNDROME
                          0.999215 0.402433
CLEFT LIP/PALATE-ECTODERMAL DYSPLASIA SYNDROME; CLPED1
ENTEROKINASE DEFICIENCY   0.917246 0.939153
                                 1 0.99766
EPIDERMOLYSIS BULLOSA DYSTROPHICA, HALLOPEAU-SIEMENS TYPE; EBR1
                          0.965493 0.997035
EPIDERMOLYSIS BULLOSA, GENERALIZED ATROPHIC BENIGN; GABEB
                          0.998879 0.994149
EPIDERMOLYSIS BULLOSA SIMPLEX AND LIMB-GIRDLE MUSCULAR DYSTROPHY
                           0.96731 0.999532
EPIDERMOLYSIS BULLOSA LETALIS
                          0.985535 0.992511
EPIDERMOLYSIS BULLOSA WITH PYLORIC ATRESIA
                          0.641287 0.782354
EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH EARLY-ONSET DIABETES MELLITUS
                           0.96288 0.996957
FACTOR V AND FACTOR VIII, COMBINED DEFICIENCY OF; F5F8D
FACTOR V DEFICIENCY       0.999551 0.996958
FACTOR VII DEFICIENCY     0.924086 0.997894
FACTOR X DEFICIENCY       0.912088 0.999532
FANCONI ANEMIA; FA        0.702131 0.549473
                          0.873514 0.959747
FANCONI-BICKEL SYNDROME; FBS
FERTILE EUNUCH SYNDROME   0.997197 0.265153
                          0.999327 0.413527
FIBROMATOSIS, JUVENILE HYALINE
                                 1 0.992511
FIBULAR HYPOPLASIA AND COMPLEX BRACHYDACTYLY
PREKALLIKREIN DEFICIENCY  0.840996 0.905709
                          0.344584 0.345344
FRUCTOSE INTOLERANCE, HEREDITARY
FRUCTOSURIA               0.013456 0.063656
                          0.008186
GALACTOSE EPIMERASE DEFICIENCY 0.045635
GM1-GANGLIOSIDOSIS, TYPE I       1 0.988065
GM1-GANGLIOSIDOSIS, TYPE II      1 0.978703
GM1-GANGLIOSIDOSIS, TYPE III     1 0.920899
GAUCHER DISEASE, TYPE I 0.999888 0.751755
GAUCHER DISEASE, TYPE II         1 0.921601
GAUCHER DISEASE, TYPE III        1 0.990405
GAUCHER DISEASE, TYPE IIIC       1 0.935174
GIANT PLATELET SYNDROME   0.957048 0.631086
GLUTARIC ACIDEMIA I       0.019063 0.077679
                           DEFICIENCY OF ERYTHROCYTES, HEMOLYTIC ANEMIA DUE TO
GLUTATHIONE SYNTHETASE0.999327 0.070894
                          0.008074 0.045401
GLYCOGEN STORAGE DISEASE VI
                          0.958847
GTP CYCLOHYDROLASE I DEFICIENCY 0.127281
FACTOR XII DEFICIENCY     0.895829 0.978235
HEMOCHROMATOSIS; HFE 0.988114 0.750527
                          0.788358 0.565801
HEMOLYTIC UREMIC SYNDROME, ATYPICAL; aHUS HEMOLYTIC UREMIC SYNDROME, TYPICAL, INCLUDED
HOMOCYSTINURIA            0.568737 0.652001
                          0.907827 0.52937
HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA DUE TO DEFECT IN COBALAMIN METABOLISM, cblE COMPLEMENTATI
                          0.999776 0.395507
HYALINOSIS, INFANTILE SYSTEMIC
WALKER-WARBURG SYNDROME   0.016822     0.073
                          0.932832 0.999766
HYPERLIPOPROTEINEMIA, TYPE I
PAGET DISEASE, JUVENILE 0.821821 0.710976
                          0.999103 0.423023
HYPERPARATHYROIDISM, NEONATAL SEVERE PRIMARY; NSHPT
                          0.578157 0.760824
AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I; APS1
HYPOGLYCEMIA, LEUCINE-INDUCED; LIH1 0.999532
                          0.685692 0.580487
HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL RECESSIVE
                          0.882148 0.824947
HYPOPROTEINEMIA, HYPERCATABOLIC
                          0.949198 0.745963
ICHTHYOSIFORM ERYTHRODERMA, CONGENITAL, NONBULLOUS, 1; NCIE1
                          0.996187 0.476012
ICHTHYOSIS, LAMELLAR, 1; LI1
PRIMARY CILIARY DYSKINESIA; PCD1 0.831968
ISOVALERIC ACIDEMIA; IVA 0.010092 0.049848
KARTAGENER SYNDROME 0.999776 0.838521
                          0.999888
PAPILLON-LEFEVRE SYNDROME; PALS 0.321947
                          0
HAIM-MUNK SYNDROME; HMS.999888 0.321947
KURU, SUSCEPTIBILITY TO           1 0.932132
                          0.914443
SPECIFIC GRANULE DEFICIENCY; SGD 0.893776
                          0.871832 0.979874
GROWTH HORMONE INSENSITIVITY WITH IMMUNODEFICIENCY
                          0.999551 0.99766
LECITHIN:CHOLESTEROL ACYLTRANSFERASE DEFICIENCY
DONOHUE SYNDROME          0.998542 0.737889
                          0.794573 WIETHE
LIPOID PROTEINOSIS OF URBACH AND 0.796162
                          0.992599 0.766206
MILLER-DIEKER LISSENCEPHALY SYNDROME; MDLS
                          0.999551 0.746314
PLASMODIUM FALCIPARUM BLOOD INFECTION LEVEL
MAPLE SYRUP URINE DISEASE 0.201585 0.342382
                          0.711146 0.811184
MARINESCO-SJOGREN SYNDROME; MSS
                          0.996187 0.811842
FAMILIAL MEDITERRANEAN FEVER; FMF
                          0.921619 DUE TO
METACHROMATIC LEUKODYSTROPHY 0.996724SAPOSIN B DEFICIENCY
                          0.987778
METACHROMATIC LEUKODYSTROPHY 0.449462
                          TO DEFICIENCY OF
METHEMOGLOBINEMIA DUE 0.927226 0.997894 CYTOCHROME b5
                            0.89852 0.999766
METHEMOGLOBINEMIA DUE TO DEFICIENCY OF METHEMOGLOBIN REDUCTASE
                          0.006504 0.039775
3-@METHYLGLUTACONIC ACIDURIA, TYPE I
                          DUE TO 0.990873
METHYLMALONIC ACIDURIA 0.974434METHYLMALONYL-CoA MUTASE DEFICIENCY
                           cblA TYPE
METHYLMALONIC ACIDURIA,0.986993 0.998596
                           cblB TYPE
METHYLMALONIC ACIDURIA,0.934402 0.804399
NIJMEGEN BREAKAGE SYNDROME0.948643 0.997894
                          0.026688 0.106483
MITOCHONDRIAL DNA DEPLETION SYNDROME, HEPATOCEREBRAL FORM
                          0.935472 0.247133
MITOCHONDRIAL COMPLEX I DEFICIENCY
MORQUIO SYNDROME B        0.999776 0.948514
                           TYPE VII
MUCOPOLYSACCHARIDOSIS0.453241 0.319139
MULIBREY NANISM           0.673357 0.663313
                          0.736354 0.423398
SPINAL MUSCULAR ATROPHY, TYPE I; SMA1
                          0.999327 SMA3
SPINAL MUSCULAR ATROPHY, TYPE III;0.367103
                          0.999327 SMA2
SPINAL MUSCULAR ATROPHY, TYPE II; 0.370934
                          0.922516 0.999766
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2A; LGMD2A
                          0.999664 0.999766
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B; LGMD2B
                          0.969836 0.999298
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2C; LGMD2C
                            0.60776 0.899602
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2H; LGMD2H
MIYOSHI MYOPATHY; MM      0.999888 0.999766
MYASTHENIA GRAVIS; MG 0.998037 0.53313
                          0.970061 0.626345
MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH EPISODIC APNEA
MYELOPEROXIDASE DEFICIENCY0.871832 0.54037
                          0.621103 0.595834
CARNITINE PALMITOYLTRANSFERASE I DEFICIENCY
                          0.999215 0.093589
MYOTONIA CONGENITA, AUTOSOMAL RECESSIVE
                          0.990917 1; SJS1
SCHWARTZ-JAMPEL SYNDROME, TYPE0.921385
MYXOMA, INTRACARDIAC 0.993496 0.618301
LEIGH SYNDROME; LS        0.974543 0.268547
NEMALINE MYOPATHY 2; NEM2 0.893137 0.985022
NEPHRONOPHTHISIS 1; NPHP1 0.999439        1
                           FINNISH 0.947578
NEPHROSIS 1, CONGENITAL,0.903342 TYPE; NPHS1
                                 1 0.940323
NEPHROTIC SYNDROME, EARLY-ONSET, WITH DIFFUSE MESANGIAL SCLEROSIS
                                 1 0.288907
HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1; HHF1
NETHERTON SYNDROME; NETH  0.759812 0.572532
                          0
NEURAMINIDASE DEFICIENCY.925992 0.99883
ELEJALDE DISEASE          0.999664 0.86754
                          0.901884 WITH ANHIDROSIS; CIPA
INSENSITIVITY TO PAIN, CONGENITAL, 0.991107
                           SENSORY, WITH SPASTIC PARAPLEGIA, AUTOSOMAL RECESSIVE
NEUROPATHY, HEREDITARY0.766764 0.615025
                          0.999327 0.898666
MOSAIC VARIEGATED ANEUPLOIDY SYNDROME; MVA
LISSENCEPHALY 2; LIS2     0.508074 0.15282
OGUCHI DISEASE            0.810755 0.989469
                           0.99843 0.221338
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE
                          0.163826 0.038606
ORNITHINE AMINOTRANSFERASE DEFICIENCY
                          0.999664
OSTEOGENESIS IMPERFECTA, TYPE III 0.39422
OSTEOGENIC SARCOMA        0.994169 0.921151
                          0.855685 0.996022
OSTEOPETROSIS, AUTOSOMAL RECESSIVE 3; OPTB3
                          0.999776 0.423491
OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME; OPPG
                          TYPE I
HYPEROXALURIA, PRIMARY, 0.814084 0.987597
PANCREATIC CARCINOMA 0.991254 0.953907
                          0.999215
PANCREATIC AGENESIS, CONGENITAL 0.987365
                          0.998991 0.992745
PAPILLOMA OF CHOROID PLEXUS
PARKINSON-DEMENTIA SYNDROME1              1
HYPER-IgD SYNDROME; HIDS 0.4658 0.48526
                          0.908275
INTRINSIC FACTOR DEFICIENCY; IFD 0.999766
MEGALOBLASTIC ANEMIA 1 0.507682 0.503979
                          0.603835 0.718465
D-BIFUNCTIONAL PROTEIN DEFICIENCY
                          0.438488 0.451077
PERSISTENT MULLERIAN DUCT SYNDROME, TYPES I AND II; PMDS
PHENYLKETONURIA           0.000336 0.001404
PHENYLKETONURIA II        0.000336 0.001404
                          0.998094 0.698409
PINEAL HYPERPLASIA, INSULIN-RESISTANT DIABETES MELLITUS, AND SOMATIC ABNORMALITIES
PITUITARY DWARFISM I      0.603847 0.617041
                          0.879009 0.984086
GROWTH HORMONE INSENSITIVITY SYNDROME
PITUITARY DWARFISM III     0.95245 0.127779
PITUITARY DWARFISM IV     0.996524 0.995319
                          0.898856 0.961151
PLASMIN INHIBITOR DEFICIENCY
                          0.141512 0.039073
PORPHYRIA, CONGENITAL ERYTHROPOIETIC
GITELMAN SYNDROME         0.857928 0.995319
                          0.852545 0.989001
HYPERPHENYLALANINEMIA WITH PRIMAPTERINURIA
                          0.943198 I, AUTOSOMAL RECESSIVE; PHA1
PSEUDOHYPOALDOSTERONISM, TYPE 0.986192
PTA DEFICIENCY             0.89224 0.994149
                           0.57895 0.418226
SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 1; SMDP1
GLUTATHIONE SYNTHETASE DEFICIENCY1 0.070894
                                 1 0.898432
PYROPOIKILOCYTOSIS, HEREDITARY; HPP
                          0.998991 0.382312
PYRUVATE KINASE DEFICIENCY OF RED CELLS
REFSUM DISEASE            0.937311 0.85323
                          0.979886
REFSUM DISEASE, INFANTILE FORM 0.995161
                           0.77274 0.30735
INFLAMMATORY BOWEL DISEASE 1; IBD1
                          0.999215
SENIOR-LOKEN SYNDROME 1; SLSN1 0.996256
                          0.851536 0.893985
RENAL TUBULAR ACIDOSIS, DISTAL, WITH PROGRESSIVE NERVE DEAFNESS
RETINITIS PIGMENTOSA; RP 0.76648 0.52428
                          0.901323
ENHANCED S-CONE SYNDROME; ESCS0.995085
                         0.911527 0.996724
RH-NULL, REGULATOR TYPE; RHN
RHABDOMYOSARCOMA 2; RMS2  0.62457 0.547051
SANDHOFF DISEASE         0.191859 0.217829
MOVED TO 187600          0.999776 0.662766
                         0.584212 0.398783
SPASTIC ATAXIA, CHARLEVOIX-SAGUENAY TYPE; SACS
                                 1 0.982214
SPHEROCYTOSIS, AUTOSOMAL RECESSIVE
SPONDYLOPERIPHERAL DYSPLASIA1 0.940791
CANAVAN DISEASE          0.003588 0.035564
SUDDEN INFANT DEATH SYNDROME     1    0.2022
                         0.990132 0.496724
MULTIPLE SULFATASE DEFICIENCY; MSD
                         0.910294 0.995788
TAY-SACHS DISEASE, AB VARIANT
TAY-SACHS DISEASE; TSD 0.902669 0.978235
                         0.889088 0.989817
THROMBASTHENIA OF GLANZMANN AND NAEGELI
                         0.997421 0.987831
THROMBOTIC THROMBOCYTOPENIC PURPURA, CONGENITAL; TTP
                         0.998542 0.505968
THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL RECESSIVE; GRTH
GRAVES DISEASE           0.988505 0.897823
                         ISOLATED
THYROTROPIN DEFICIENCY, 0.877551 0.99883
                         0.998094 0.999532
HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1; CHNG1
                         SYNDROME
MISMATCH REPAIR CANCER 0.999028 0.734941
                         0.819691
USHER SYNDROME, TYPE IIA; USH2A 0.801779
                         0.992151 0.388863
VACTERL ASSOCIATION WITH HYDROCEPHALUS
                         0.997869 0.333645
VAS DEFERENS, CONGENITAL BILATERAL APLASIA OF; CBAVD
                         0.721462 0.820309
VITAMIN D-DEPENDENT RICKETS, TYPE II
                         0.903678 0.998362
VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 1
                         RECESSIVE FORM
VON WILLEBRAND DISEASE, 0.999776 0.998128
WAARDENBURG-SHAH SYNDROME0.992336 0.542291
WEAVER SYNDROME          0.995066 0.767197
WERNER SYNDROME; WRN 0.816887 0.986426
                         0.778538
WERNICKE-KORSAKOFF SYNDROME 0.745905
WILSON DISEASE            0.72505 0.084698
                         0.999888 0.999298
ALBINISM, RUFOUS OCULOCUTANEOUS; ROCA
                         0.879682 0.997192
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP A; XPA
                         0.896501 0.998596
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C; XPC
                         0.994954 0.996958
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP D; XPD
                         0.894819 0.999064
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP E
                         0.988675 0.99883
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP G; XPG
                         0.986544
DE SANCTIS-CACCHIONE SYNDROME 0.996022
OPITZ SYNDROME           0.860955 0.856809
                         0.846939
LISSENCEPHALY, X-LINKED, 1; LISX1 0.992511
                         0.999888 0.999766
ANDROGEN INSENSITIVITY SYNDROME; AIS
                         0.998767 0.888369
CARDIOMYOPATHY, DILATED, 3A; CMD3A
ADRENOLEUKODYSTROPHY; ALD0.962772 0.992043
                                 1 0.67985
NONCOMPACTION OF LEFT VENTRICULAR MYOCARDIUM, FAMILIAL ISOLATED, X-LINKED; LVNCX
                         0.679973 0.994851
ADRENAL HYPOPLASIA, CONGENITAL; AHC
                         0.999664 0.971683
ECTODERMAL DYSPLASIA, HYPOHIDROTIC, WITH IMMUNE DEFICIENCY
                         0.998542 0.808565
ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH IMMUNODEFICIENCY, OSTEOPETROSIS, AND LYMPHEDEMA; OLEDA
LESCH-NYHAN SYNDROME; LNS0.994842 0.149076
GOUT, HPRT-RELATED       0.993496 0.149076
                         0.676609 0.593121
DYSERYTHROPOIETIC ANEMIA WITH THROMBOCYTOPENIA MACROTHROMBOCYTOPENIA, X-LINKED, INCLUDED
                         0.999439 0.979406
MUSCULAR DYSTROPHY, BECKER TYPE; BMD
                         0.793676 0.958821
SEVERE COMBINED IMMUNODEFICIENCY, X-LINKED; SCIDX1
                         0.607423 0.427334
MENTAL RETARDATION, X-LINKED 46; MRX46
                           0.69298 0.813246
HYDROXYACYL-CoA DEHYDROGENASE II DEFICIENCY
                          0.999215 0.745204
ALPHA-THALASSEMIA MYELODYSPLASIA SYNDROME; ATMDS
                          0.878672 0.92909
CORPUS CALLOSUM, AGENESIS OF, WITH MENTAL RETARDATION, OCULAR COLOBOMA, AND MICROGNATHIA
                          0.861332 0.817299
CONTIGUOUS ABCD1/DXS1375E DELETION SYNDROME
                          0.698026 0.630002
EPILEPSY, X-LINKED, WITH VARIABLE LEARNING DISABILITIES AND BEHAVIOR DISORDERS
OVARIAN DYSGENESIS 2; ODG20.429805 0.43693
                          0.999215
WISKOTT-ALDRICH SYNDROME; WAS 0.57641
                          0.999103 0.582495
ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, NONDELETION TYPE, X-LINKED; ATRX
FABRY DISEASE             0.007064 0.041413
                          0.997533 0.991107
CARDIOMYOPATHY, DILATED, 3B; CMD3B
BARTH SYNDROME; BTHS 0.999439         0.8315
                          0.986208 0.947824
CHARCOT-MARIE-TOOTH DISEASE, X-LINKED, 1; CMTX1
CHOROIDEREMIA; CHM         0.68928 0.608472
MASA SYNDROME             0.999103 0.755675
                           CLS
COFFIN-LOWRY SYNDROME;0.754541 0.608472
                          0.998542 0.994149
CORPUS CALLOSUM, PARTIAL AGENESIS OF, X-LINKED
                          0.488899 0.180159
CRANIOFRONTONASAL SYNDROME; CFNS
CUTIS LAXA, X-LINKED      0.997421 0.596536
                          0.539471 0.180159
DEAFNESS, X-LINKED 2; DFNX2
                          0.850751 0.975193
DIABETES INSIPIDUS, NEPHROGENIC, X-LINKED
                          ED1
ECTODERMAL DYSPLASIA 1; 0.893698 0.999766
                          0.994505 0.069724
EXUDATIVE VITREORETINOPATHY, FAMILIAL, X-LINKED RECESSIVE; EVR2
                          0.970958 0.989235
GONADAL DYSGENESIS, XY FEMALE TYPE; GDXY
HEMOPHILIA A              0.999664         1
HEMOPHILIA B; HEMB        0.907266 0.998362
                          0.999551 0.895882
HYDROCEPHALUS DUE TO CONGENITAL STENOSIS OF AQUEDUCT OF SYLVIUS; HSAS
                          0.915228 0.992745
HYPOPHOSPHATEMIC RICKETS, X-LINKED DOMINANT
                          0.850415 TYPE 1;
IMMUNODEFICIENCY WITH HYPER-IgM,0.955769 HIGM1
INCONTINENTIA PIGMENTI; IP0.996972 0.865668
INFERTILE MALE SYNDROME          1 0.999766
MENKES DISEASE            0.997869 0.850924
                          RENS1
RENPENNING SYNDROME 1; 0.626598 0.878774
                          0.814308 0.752925
MENTAL RETARDATION, X-LINKED 3; MRX3
                          0.999664 0.61128
MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED, 1; MRXHF1
                          0.999215 0.93377
MUSCULAR DYSTROPHY, DUCHENNE TYPE; DMD
                           0.57569 0.67751
EMERY-DREIFUSS MUSCULAR DYSTROPHY, X-LINKED; EDMD
NORRIE DISEASE; ND        0.991702 0.069724
REIFENSTEIN SYNDROME             1 0.999064
                           JUVENILE; RS1
RETINOSCHISIS 1, X-LINKED,0.013456 0.063187
                          0.999776 0.987365
SPINAL AND BULBAR MUSCULAR ATROPHY, X-LINKED 1; SMAX1
THROMBOCYTOPENIA 1; THC1  0.997085 0.788673
                          0.236354 0.160424
SPERMATOGENIC FAILURE, NONOBSTRUCTIVE, Y-LINKED
                          0.042723 0.137842
DEAFNESS, AMINOGLYCOSIDE-INDUCED
FATAL FAMILIAL INSOMNIA; FFI     1 0.894712
                          0.890378 0.449696
DEAFNESS, AUTOSOMAL DOMINANT NONSYNDROMIC SENSORINEURAL 2; DFNA2
                          0.990244 0.995788
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE; PARK2
                          0.878224 0.854669
WARBURG MICRO SYNDROME; WARBM
                          0.995851 0.998596
RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 3; RCDP3
                          0.995963 0.997192
HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 2; HSCR2
                           0.72292 0.754328
VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL; VMCM
                          0.997869 EDM2
EPIPHYSEAL DYSPLASIA, MULTIPLE, 2; 0.997192
                                 1 0.379593
MACROTHROMBOCYTOPENIA AND PROGRESSIVE SENSORINEURAL DEAFNESS
                         0.759699
SPINOCEREBELLAR ATAXIA 5; SCA5 0.403464
                          0.99972
FRONTOTEMPORAL DEMENTIA; FTD 0.983969
                         0.999888 0.995788
TIBIAL MUSCULAR DYSTROPHY, TARDIVE
                         0.617627 0.711678
OSLER-RENDU-WEBER SYNDROME 2; ORW2
                         0.998767 0.981278
MATURITY-ONSET DIABETES OF THE YOUNG, TYPE III; MODY3
ABCD SYNDROME            0.993384 0.995087
                         0.932832
EPILEPSY, NOCTURNAL FRONTAL LOBE, TYPE1     1
                         0.809599 0.699509
FRONTOTEMPORAL DEMENTIA, CHROMOSOME 3-LINKED; FTD3
                         0.905472 0.998362
SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-POSITIVE, NK CELL
ASTHMA, SUSCEPTIBILITY TO0.846602 0.905007
                         0.744001 0.527732
RETINITIS PIGMENTOSA 17; RP17
                         0.015586 0.07066
CATARACT, CONGENITAL ZONULAR, WITH SUTURAL OPACITIES; CCZS
                         0.697129 0.686242
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B; CMT2B
                         0.947634 0.910367
HYPERFERRITINEMIA-CATARACT SYNDROME
                         0.998991 0.501989
PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC; NEPPK
                          0.91691 EDM3 EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH MYOPATHY, INCLUDED
EPIPHYSEAL DYSPLASIA, MULTIPLE, 3; 0.996724
                         0.942139 0.996958
NEPHROTIC SYNDROME, STEROID-RESISTANT, AUTOSOMAL RECESSIVE; SRN1
                         0.999439 0.996022
ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 2; ARVD2
                         0.999776 0.998596
EPIDERMOLYSIS BULLOSA SIMPLEX, AUTOSOMAL RECESSIVE
BRODY MYOPATHY            0.59935 0.718465
                                1
SUPRANUCLEAR PALSY, PROGRESSIVE, 1; PSNP1  1
BRUGADA SYNDROME 1              1     0.2022
                         0.999664
CARDIOMYOPATHY, DILATED, 1E; CMD1E0.2022
NAXOS DISEASE            0.913434 0.993681
POTOCKI-SHAFFER SYNDROME 0.833576 0.787804
                         0.998991 0.999766
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2F; LGMD2F
                         0.996748 POLYCYSTIN 1, INCLUDED
POLYCYSTIC KIDNEY DISEASE 1; PKD1 0.910367
                         0.915115 0.998362
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4B1; CMT4B1
                         0.860843 ASSOCIATED MYELOID MALIGNANCY
PLATELET DISORDER, FAMILIAL, WITH 0.932834
                         0.999776 0.973321
DIABETES MELLITUS, TRANSIENT NEONATAL, 1
                         DESMIN-RELATED
MYOPATHY, MYOFIBRILLAR, 0.970954 0.973912
                         0.988393 0.187529
SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CEL
                         0.998691 0.576155
MYASTHENIC SYNDROME, CONGENITAL, SLOW-CHANNEL; SCCMS
                         0.999103 0.983384
PROSTATE CANCER, HEREDITARY, 1; HPC1
                         0.993776 0.994382
PEROXISOME BIOGENESIS DISORDERS; PBD
                         0.999495 0.608004
DEAFNESS, AUTOSOMAL DOMINANT NONSYNDROMIC SENSORINEURAL 3; DFNA3
                                1 0.999298
CATARACT, CONGENITAL, CERULEAN TYPE, 2; CCA2
                         0.646333 0.773695
HYPOTRICHOSIS, CONGENITAL, WITH JUVENILE MACULAR DYSTROPHY; HJMD
STUVE-WIEDEMANN SYNDROME 0.641512 0.79621
                         0.626139 0.437866
OBESITY LEANNESS, INCLUDED
                         0.840624 0.534332
TRICHOTHIODYSTROPHY, PHOTOSENSITIVE; TTDP ICHTHYOSIFORM ERYTHRODERMA WITH HAIR ABNORMALITY A
                         TYPE 2B; 0.927217
ARTHROGRYPOSIS, DISTAL, 0.791769 DA2B
                         0.984301 0.987365
YEMENITE DEAF-BLIND HYPOPIGMENTATION SYNDROME
                         0.994842 0.997894
CONE-ROD DYSTROPHY 6; CORD6
                         0.989123 0.44408
EXUDATIVE VITREORETINOPATHY 4; EVR4
                         0.786948 0.583899
PHOSPHOGLYCERATE DEHYDROGENASE DEFICIENCY
                                1 0.293051
HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 2; HHF2
                         0.747112 0.625556
AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME; ALPS
                                1 0.701849
BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 1; BMND1
                         0.911864 0.962556
CATARACT, ZONULAR PULVERULENT 3; CZP3
                         0.997982 0.996022
MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 5
                         0.973873 0.999064
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2G; LGMD2G
                        0.520296 0.772993
FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 2; CFEOM2
                        0.872491 0.399485
PAGET DISEASE OF BONE; PDB
                               1 0.994851
CORNEAL DYSTROPHY OF BOWMAN LAYER, TYPE II; CDB2
                        0.904351 0.999298
NEPHRONOPHTHISIS 2; NPHP2
CONE DYSTROPHY 3; COD3 0.961875 0.998128
                        0.996972 0.99766
HEMOCHROMATOSIS, JUVENILE; JH
DESMOSTEROLOSIS         0.615833 0.460225
                        0.991254 0.973087
SEVERE COMBINED IMMUNODEFICIENCY WITH SENSITIVITY TO IONIZING RADIATION
                        0.782238 0.919026
OSSIFICATION OF THE POSTERIOR LONGITUDINAL LIGAMENT OF SPINE; OPLL
                               1 0.315118
HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3; HHF3
                        0.045974 0.34511
ACROMESOMELIC DYSPLASIA, MAROTEAUX TYPE; AMDM ST. HELENA DYSPLASIA, INCLUDED
                        0.508859 0.148959
MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOPATHY SYNDROME; MNGIE
HUNTINGTON DISEASE-LIKE 1; HDL11 0.88556
                        0.931487 0.963492
FOCAL SEGMENTAL GLOMERULOSCLEROSIS 1; FSGS1
                        0.999215 0.979874
HYPERTHYROIDISM, FAMILIAL GESTATIONAL
                        0.217874 0.171542
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4; FHL4
OMENN SYNDROME          0.994579 0.440128
                        0.998542 0.47648
DEAFNESS, AUTOSOMAL DOMINANT NONSYNDROMIC SENSORINEURAL 17; DFNA17 COCHLEOSACCULAR DEGENE
                        0.685916 0.606926
CONE-ROD DYSTROPHY 7; CORD7
                        0.999776 RESPIRATORY FAILURE; HMERF
HEREDITARY MYOPATHY WITH EARLY 0.978469
                        0.010989 0.05124
HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT, 3; HCHOLA3
                        0.861852 0.996958
HYPERCHOLESTEROLEMIA, AUTOSOMAL RECESSIVE; ARH
                               1    0.2022
VENTRICULAR FIBRILLATION, PAROXYSMAL FAMILIAL; VF
LONG QT SYNDROME 3; LQT3       1    0.2022
                        0.324321 0.264498
LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER; VWM
SICKLE CELL ANEMIA      0.578269 0.257838
                        0.999327
INTERVERTEBRAL DISC DISEASE; IDD 0.995788
CERVICAL CANCER         0.996636 0.537436
                        0.991869 0.878745
HYPOALPHALIPOPROTEINEMIA, PRIMARY
                               1 0.995788
EPIDERMOLYSIS BULLOSA PRURIGINOSA
                        0.999215 0.991809
CARDIOMYOPATHY, DILATED, 1G; CMD1G
                         0.99557 0.709055
NONCOMPACTION OF LEFT VENTRICULAR MYOCARDIUM, FAMILIAL ISOLATED, AUTOSOMAL DOMINANT 1; LVNC1
                        0.681991 0.682967
ENCEPHALOPATHY, FAMILIAL, WITH NEUROSERPIN INCLUSION BODIES; FENIB
                        0.763489
CATARACT, AUTOSOMAL DOMINANT 0.724245
                        0.956156
HEMOCHROMATOSIS, TYPE 3; HFE3 0.998362
MOVED TO 137920         0.999888 0.991341
                        0.987105 0.999532
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2E; LGMD2E
ACERULOPLASMINEMIA      0.905584 0.831032
                        0.999776 0.653639
ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3; EEC3
CATARACT, COPPOCK-LIKE; CCL    1 0.998596
                        0.536728 FAMILIAL
ADVANCED SLEEP-PHASE SYNDROME,0.403909
                        0.902781 0.612216
LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3; FPLD3
                        0.997309 0.854937
OVARIAN CANCER, EPITHELIAL
                         0
NEPHRONOPHTHISIS 3; NPHP3.97107 0.999298
                        0.927562 0.995788
ATAXIA-TELANGIECTASIA-LIKE DISORDER; ATLD
                        0.895717 0.96864
PYOGENIC STERILE ARTHRITIS, PYODERMA GANGRENOSUM, AND ACNE
                        0.924086 0.908963
AMEGAKARYOCYTIC THROMBOCYTOPENIA, CONGENITAL; CAMT
                        0.970397 0.998596
ECTODERMAL DYSPLASIA/SKIN FRAGILITY SYNDROME
                        0.977686 0.999532
TOOTH AGENESIS, SELECTIVE, 3; STHAG3
                        0.992599
CRANIOSYNOSTOSIS, TYPE 2; CRS2 0.766495
                        0.993945 0.987365
CARDIOMYOPATHY, DILATED, 1I; CMD1I
                         0.85623 0.643108
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1; CPVT1
                            CHONDRODYSPLASIA
OSTEOARTHRITIS WITH MILD 0.99843 0.996958
SCHIZOPHRENIA 9; SCZD9     0.79797 0.320927
                           0.98318
LYMPHOMA, NON-HODGKIN, FAMILIAL 0.729464
                          0.846715
RENAL CELL CARCINOMA, PAPILLARY 0.895882
                          0.991926 0.860286
HYPERTENSION, EARLY-ONSET, AUTOSOMAL DOMINANT, WITH SEVERE EXACERBATION IN PREGNANCY
                          0.998991 0.950386
DEAFNESS, AUTOSOMAL DOMINANT 23; DFNA23
SEBASTIAN SYNDROME; SBS   0.999888 0.387316
                           HYPOMYELINATING
NEUROPATHY, CONGENITAL0.999776 0.631094
                          0.847836 DOMINANT; SPG13
SPASTIC PARAPLEGIA 13, AUTOSOMAL0.984788
                          0.999551 0.396209
SPLIT-HAND/FOOT MALFORMATION 4; SHFM4
NEMALINE MYOPATHY 5; NEM5 0.875869 0.961385
                          0.864992
SPINOCEREBELLAR ATAXIA 14; SCA14 0.794758
                          0.952119 0.999532
EPILEPSY, NOCTURNAL FRONTAL LOBE, TYPE 3
                          0.764745 0.974023
SEGAWA SYNDROME, AUTOSOMAL RECESSIVE
                          0.998935 0.809925
BASAL CELL CARCINOMA, MULTIPLE BASAL CELL CARCINOMA CAUSED BY SOMATIC MUTATION, INCLUDED
                          0.999439        1
CARDIOMYOPATHY, DILATED, WITH WOOLLY HAIR AND KERATODERMA
                          0.865329 0.916452
DERMATITIS, ATOPIC, 4; ATOD4
                          0.112201 0.043402
GLYCINE ENCEPHALOPATHY; GCE
TRANSALDOLASE DEFICIENCY  0.292554 0.095227
PROPIONIC ACIDEMIA        0.017046 0.074637
                           0.99529
HEMOCHROMATOSIS, TYPE 4; HFE4 0.997426
                           RMD RIPPLING MUSCLE DISEASE 2, INCLUDED; RMD2, INCLUDED
RIPPLING MUSCLE DISEASE;0.999776 0.995788
                          0.942364 0.450866
BASAL GANGLIA DISEASE, ADULT-ONSET
                          0.999551 0.446525
DIABETES MELLITUS, PERMANENT NEONATAL; PNDM
                          0.976004 0.101568
PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET; PARK7
                          0.998991 0.866604
DEAFNESS, AUTOSOMAL DOMINANT NONSYNDROMIC SENSORINEURAL 22; DFNA22 DEAFNESS, SENSORINEURAL,
                          0.679861 0.506436
INTERLEUKIN 2 RECEPTOR, ALPHA, DEFICIENCY OF
                          0.999327 0.99883
MATURITY-ONSET DIABETES OF THE YOUNG, TYPE IV; MODY4
                          0.973088        1
MATURITY-ONSET DIABETES OF THE YOUNG, TYPE VI; MODY6
                           EPILEPSY
MYOKYMIA WITH NEONATAL0.996748 0.996256
                          0.999439 0.639682
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2F
                          0.984301 0.974257
NONCOMPACTION OF LEFT VENTRICULAR MYOCARDIUM WITH CONGENITAL HEART DEFECTS
                          0.999888 0.785865
GLAUCOMA, NORMAL TENSION, SUSCEPTIBILITY TO
                          0.533976 0.25854
GLYCINE N-METHYLTRANSFERASE DEFICIENCY
                          0.997533 0.995788
CARDIOMYOPATHY, DILATED, 1L; CMD1L
                          0.999888 0.952024
SPONGIFORM ENCEPHALOPATHY WITH NEUROPSYCHIATRIC FEATURES
                           0.98004
LYMPHANGIOLEIOMYOMATOSIS; LAM 0.980814
                          0.718659 0.274748
HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 6; HHF6
                          0.954138 0.602714
GASTROINTESTINAL STROMAL TUMOR; GIST
                          0.999664 0.998362
MYOPATHY, DISTAL, WITH ANTERIOR TIBIAL ONSET; DMAT
                          0.906369 TYPE 3
IMMUNODEFICIENCY WITH HYPER-IgM,0.995788
ALZHEIMER DISEASE 4        0.99473 0.93377
                          0.914237
EPILEPSY, JUVENILE MYOCLONIC; JME0.391918
                          0.999888
ALBINISM, OCULOCUTANEOUS, TYPE IB; OCA1B  1
NEPHRONOPHTHISIS 4; NPHP4 0.999888 0.999298
                          0.999888
SENIOR-LOKEN SYNDROME 4; SLSN4 0.999064
                          0.999664 EDM5
EPIPHYSEAL DYSPLASIA, MULTIPLE, 5; 0.318671
                          0.885849 0.503393
GONADAL DYSGENESIS, 46,XY, PARTIAL, WITH MINIFASCICULAR NEUROPATHY GONADAL DYSGENESIS, 46,XY, PU
                          GLYCOSYLATION,
CONGENITAL DISORDER OF 0.334941 0.309853TYPE IId; CDG2D
                                 1 0.999298
CATARACT, SUTURAL, WITH PUNCTATE AND CERULEAN OPACITIES
                          0.749944
SPINOCEREBELLAR ATAXIA 17; SCA17 0.663313
                          AUTOSOMAL RECESSIVE, WITH AXONAL NEUROPATHY; SCAN1
SPINOCEREBELLAR ATAXIA, 0.183449 0.29387
                              0.939 0.99649
CHOLESTERYL ESTER TRANSFER PROTEIN DEFICIENCY
                          0.978022 0.966534
FOCAL CORTICAL DYSPLASIA OF TAYLOR; FCDT
DYSTONIA, JUVENILE-ONSET  0.885064 0.887667
COENZYME Q10 DEFICIENCY   0.981274 0.785213
LISSENCEPHALY 1; LIS1     0.992375 0.936813
                          0.998654 0.992979
ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 8; ARVD8
BOTHNIA RETINAL DYSTROPHY 0.999439 0.995087
                          0.999439 0.988067
NEWFOUNDLAND ROD-CONE DYSTROPHY; NFRCD
                          0.659341
CARDIOMYOPATHY, DILATED, 1M; CMD1M 0.573
                                   1        1
FRONTOTEMPORAL LOBAR DEGENERATION WITH UBIQUITIN-POSITIVE INCLUSIONS; FTLDU
                          0.993608 0.997192
CARDIOMYOPATHY, DILATED, 1N; CMD1N
TOENAIL DYSTROPHY, ISOLATED 1 0.994851
                                   1 0.970513
CORNEAL DYSTROPHY, AVELLINO TYPE; CDA
                          0.999103 0.993915
ATRIAL FIBRILLATION, FAMILIAL, 3; ATFB3
ICOS DEFICIENCY            0.01155 0.051474
                          0.992936 0.712915
BRAIN SMALL VESSEL DISEASE WITH HEMORRHAGE
                                   1 0.994851
EPIDERMOLYSIS BULLOSA DYSTROPHICA WITH SUBCORNEAL CLEAVAGE; EBDSC
                          0.997925 0.613386
ICHTHYOSIS, CYCLIC, WITH EPIDERMOLYTIC HYPERKERATOSIS
                          0.904687 0.99883
GRISCELLI SYNDROME, TYPE 2; GS2
                          0.999888 0.559326
OSTEOPETROSIS, AUTOSOMAL DOMINANT 1; OPTA1
VAN BUCHEM DISEASE, TYPE 2         1 0.645765
                          0.828213 0.84601
NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VIIB; HMN7B
                                   1 0.999064
KERATOSIS PALMOPLANTARIS STRIATA III
                          0.999664
SKIN FRAGILITY-WOOLLY HAIR SYNDROME 1
                                   1 0.999064
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2I
                          0.997869 0.926983
CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1D; CMT1D
                          0.999664 0.944769
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E
                          0.418134 0.528551
HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC; HES
                          0.999215 0.988065
CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1F
                                   1
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2J1
                          0.997645 0.629768
ACROCAPITOFEMORAL DYSPLASIA; ACFD
                          0.827314 0.736713
JUVENILE MYELOMONOCYTIC LEUKEMIA; JMML
                                   1 0.999766
CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE D
                          0.999776 0.996022
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1C; LGMD1C
                          0.998654 0.710342
DEAFNESS, CONGENITAL NEUROSENSORY, AUTOSOMAL RECESSIVE 37; DFNB37
ALZHEIMER DISEASE 3       0.997421 0.997192
                          0.949989 0.98198
FOCAL SEGMENTAL GLOMERULOSCLEROSIS 3; FSGS3
                          0
HAND OSTEOARTHRITIS; HOA.999664 0.318671
CAUDAL DUPLICATION ANOMALY0.925432 0.853265
                          GLYCOSYLATION,
CONGENITAL DISORDER OF 0.093743 0.319607TYPE Ii; CDG1I
                          0.923629 0.844218
DERMATOFIBROSARCOMA PROTUBERANS; DFSP
                           0.98105 0.999298
ATRIAL SEPTAL DEFECT 2; ASD2
GAUCHER DISEASE, PERINATAL LETHAL  1 0.986196
                          0.960305 0.998362
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2D; LGMD2D
SYNPOLYDACTYLY 2; SPD2 0.883046 0.84718
                          0.995515 0.992745
CONE-ROD DYSTROPHY 9; CORD9
                          0.699821 0.46818
NEUTROPHIL IMMUNODEFICIENCY SYNDROME
                          0.770128
LEUKEMIA, CHRONIC MYELOID; CML 0.792418
                          0.972079 0.897964
HERMANSKY-PUDLAK SYNDROME 2; HPS2
                          0.701615 0.800842
CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 1; ADCAD1
                          0.481386 0.448397
CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE C
                          0.999888 0.995788
WEILL-MARCHESANI SYNDROME, AUTOSOMAL DOMINANT
                                1 0.711745
CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION
PARKES WEBER SYNDROME           1 0.674468
                         3; BOS3
BRANCHIOOTIC SYNDROME 0.999215 0.988767
                         0.999327 0.880412
PLATELET GLYCOPROTEIN IV DEFICIENCY
                                1 0.952492
CORNEAL DYSTROPHY OF BOWMAN LAYER, TYPE I; CDB1
                         0.522763
MAJOR DEPRESSIVE DISORDER; MDD 0.43519
MOVED TO 204650                 1 0.961853
                                1    0.2022
SICK SINUS SYNDROME 1, AUTOSOMAL RECESSIVE; SSS1
                         0.798722 0.386146
CARDIOMYOPATHY, DILATED, 1O; CMD1O
                         0.442924 0.036976
RIBOSE 5-PHOSPHATE ISOMERASE DEFICIENCY
                          CANCER 0.997192
OLIGODONTIA-COLORECTAL0.998094 SYNDROME
                          RESISTANCE TO
HYPERTENSION, DIASTOLIC,0.570644 0.412591
MOVED TO 276300           0.99686 0.921151
                         0.187037 0.171776
AMYOTROPHIC LATERAL SCLEROSIS 8; ALS8
                         0.999664 0.455779
NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIB; HMN2B
                          SENSORY AND AUTONOMIC, TYPE V; HSAN5
NEUROPATHY, HEREDITARY0.793451 0.972385
                         0.028145 0.115349
AICAR TRANSFORMYLASE/IMP CYCLOHYDROLASE, DEFICIENCY OF
BARRAQUER-SIMONS SYNDROME0.265418 0.224146
                         0.999664 0.318671
SPONDYLOEPIMETAPHYSEAL DYSPLASIA, MATRILIN-3 RELATED
                         0.994954 0.498362
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 10; CMH10 CARDIOMYOPATHY, HYPERTROPHIC, MID-LEFT VENTRIC
                         GLYCOSYLATION,
CONGENITAL DISORDER OF 0.594304 0.08306TYPE IIe; CDG2E
                                1 0.943365
AVASCULAR NECROSIS OF FEMORAL HEAD, PRIMARY
                                1 0.991107
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J; LGMD2J
ALPHA-B CRYSTALLINOPATHY 0.974097 0.987599
OROFACIAL CLEFT 5               1 0.981044
                         0.819354 0.446525
MACULAR DEGENERATION, AGE-RELATED, 3; ARMD3
                         0.865216 0.975661
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 3; FHL3
                         0.968185 0.330447
MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY
CD8 DEFICIENCY, FAMILIAL 0.900202 0.964896
                         0.879276 0.97706
SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-POSITIVE, NK CELL
                         0.738058
TRIFUNCTIONAL PROTEIN DEFICIENCY0.817692

				
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