Disease - Macrogen

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					* Disease & clone


                             disease                                        symbol          chrNo           cyto                OMIM_id      gene/marker      clones                 remarks
VAN DER WOUDE SYNDROME                                                   VWS                  1     1q32-q41                     119300    D1S491,D1S205        7
MONOSOMY 1p36 SYNDROME                                                   1p36 del             1     1p36.33                      607872    CDC2L1
HOLOPROSENCEPHALY 2                                                      HPE2                 2     2p21                         157170    SIX3                 3
SYNPOLYDACTYLY 1                                                         SPD1                 2     2q31.1                       186000    HOXD13               8
BRACHYDACTYLY-MENTAL RETARDATION SYNDROME BDMR                                                2     2q37.3                       600430    GPR35                3
HOLOPROSENCEPHALY 6                                                      HPE6                 2     2q37.1 -q37.3                605934    HPE6                        gene의 위치 명시되지 않음

SPLIT-HAND/FOOT MALFORMATION 5                                           SHFM5                2     2q31.1                       606708    DLX1,DLX2            4
3q Duplication                                                                                2     3q21-qter
JOUBERT SYNDROME 4/NEPHRONOPHTHISIS 1 JBTS4/NPHP1                                             2     2q13                      609583/256100 NPHP1               6
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS                        BPES                 3     3q22.3                       110100    FOXL2                3
DANDY-WALKER SYNDROME                                                    DWS                  3     3q24                         220200    ZIC1,ZIC4            2
SPLIT-HAND/FOOT MALFORMATION 4                                           SHFM4                3     3q27                         605289    TP73L                2
3q29 MICRODELETION SYNDROME                                                                   3     3q29                         609425    PAK2, DLG1          14
3p Deletion                                                                                   3     3pter - 3p25
HUNTINGTON DISEASE                                                       HD                   4     4p16.3                       143100    HD                   7
RIEGER SYNDROME, TYPE 1                                                  RIEG1                4     4q25                         180500    PITX2                5
WOLF-HIRSCHHORN SYNDROME                                                 WHS                  4     4p16.3                       194190    WHSC1                6
4p Duplication                                                                                4     4p16
SOTOS SYNDROME                                                           SOTOS SYNDROME       5     5q35                         117550    NSD1                 4
CORNELIA DE LANGE SYNDROME                                               CDLS                 5     5p13.2                       122470    NIPBL                3
CRI-DU-CHAT SYNDROME                                                     EGR1                 5     5q31.1                       123450    EGR1                 7
ADENOMATOUS POLYPOSIS OF THE COLON                                       APC                  5     5q22.2                       175100    APC                  4
CLEIDOCRANIAL DYSPLASIA                                                  CCD                  6     6p21.1                       119600    RUNX2                4
SPINOCEREBELLAR ATAXIA 1                                                 SCA1                 6     6p23                         164400    ATXN1                8
SINGLE-MINDED, DROSOPHILA, HOMOLOG OF, 1 SIM1                                                 6     6q16.3                       603128    SIM1                 2
SAETHRE-CHOTZEN SYNDROME                                                 SCS                  7     7p21.1                       101400    TWIST                4
HOLOPROSENCEPHALY 3                                                      HPE3                 7     7q36.3                       142945    SHH                  3
GREIG CEPHALOPOLYSYNDACTYLY SYNDROME GCPS                                                     7     7p13                         175700    GLI3                 8
SPLIT-HAND/FOOT MALFORMATION 1                                           SHFM1                7     7q21.3                       183600    SHFM1                2
WILLIAMS-BEUREN SYNDROME                                                 WBS                  7     7q11.2                       194050    LIMK1                7
KABUKI SYNDROME                                                          KMS                  8     8p23.1                       147920                        16
LANGER-GIEDION SYNDROME                                                  LGS                  8     8q24.11-q24.13               150230    TRPS1, EXT1          8
TRICHORHINOPHALANGEAL SYNDROME, TYPE I TRPS1                                                  8     8q23.3                       190350    TRPS1                4
CHARGE SYNDROME                                                                               8     8q12.2                       214800    CHD7                 8
BRANCHIOOTORENAL SYNDROME/OTOFACIOCERVICAL SYNDROME                      BOR/OFC SYNDROME     8     8q13.3                    113650/166780 EYA1                3
9p Deletion                                                                                   9     9p,usually 9pter - 9p22

PATCHED, DROSOPHILA, HOMOLOG OF/BASAL CELL NEVUS SYNDROME                PTCH/BCNS            9     9q22.32                   601309/109400 PTCH                5
HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE            HDR                 10     10p15                        146255    GATA3                5
SPLIT-HAND/FOOT MALFORMATION 3                                           SHFM3               10     10q24                        600095    FBXW4               11
DIGEORGE SYNDROME/VELOCARDIOFACIAL SYNDROME SPECTRUM OF MALFORMATION 2   DGS2                10     10p14-p13                    601362    NEBL,D10S1260        6
ANIRIDIA, TYPE II                                                        AN2                 11     11p13                        106210    PAX6                 3
BECKWITH-WIEDEMANN SYNDROME                                              BWS                 11     11p15.5                      130650    CDKN1C               4
JACOBSEN SYNDROME                                                        JBS                 11     11q25                        147791    11q23.3 ~ 11q25
WILMS TUMOR 1                                                            WT1                 11     Xq26, 13q12.3, 11p13194070             WT1                 12
WAGR SYNDROME                                                                                11     11p13                        194072                                Same region with Wilms tumor(OMIM:194070)



POTOCKI-SHAFFER SYNDROME                                                 PSS                 11     11p11.2                      601224    ALX4, EXT2           9
DENTATORUBRAL-PALLIDOLUYSIAN ATROPHY DRPLA                                                   12     12p13.31                     125370    DRPLA                5
NOONAN SYNDROME 1                                                        NS1                 12     12q24.13                     163950    PTPN11               7
PALLISTER-KILLIAN SYNDROME                                               PKS                 12     12p                          601803    tetrasomy of 12p
RETINOBLASTOMA                                                           RB1                 13     13q14.1-q14.2                180200    RB1                  8
HOLOPROSENCEPHALY 5                                                      HPE5                13     13q32.3                      609637    ZIC2                 3
DIAPHRAGMATIC HERNIA, CONGENITAL                                         CDH                 15     15q26.2                      142340    NR2F2,CHD2           7
PRADER-WILLI SYNDROME                                                    PWS                 15     15q11-15q13                  176270    SNRPN               14      Same region deletion with Angelman(Paternal deletion)




AUTISM                                                                   AUTS4               15     15q12                        209850                                5 clones are included at PWS region
CYLINDROMATOSIS, FAMILIAL                                               CYLD        16   16q12-16q13          132700    CYLD1                  3
RUBINSTEIN-TAYBI SYNDROME                                               RSTS        16   16p13.3              180849    CREBBP                 9
POLYCYSTIC KIDNEY DISEASE 1/TSC2 GENE                                   PKD1/TSC2   16   16p13.3           601313/191092 PKD1                  7     Same region with OMIM:600273

CAMPOMELIC DYSPLASIA                                                    CMPD        17   17q24.3              114290    SOX9                   3
CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1A                     CMT1A       17   17p11.2              118220    D17S125,D17S61         6     Same region deletion with HNPP(OMIM:162500)



NEUROFIBROMATOSIS, TYPE I                                               NF1         17   17q11.2              162200    NF1                    8
SMITH-MAGENIS SYNDROME                                                  SMS         17   17p11.2              182290    RAI1                   4
MILLER-DIEKER LISSENCEPHALY SYNDROME                                    MDLS        17   17p13.3              247200    LIS1                   9
HOLOPROSENCEPHALY 4                                                     HPE4        18   18p11.31             142946    TGIF                   5
Monosomy 18q                                                                        18   18q
ALAGILLE SYNDROME                                                       AGS         20   20p12                118450    JAG1,MKKS,SHGC-79896   10
HOLOPROSENCEPHALY                                                       HPEC        21   21q22.3              236100    TMEM1                  4
NEUROFIBROMATOSIS, TYPE II                                              NF2         22   22q12.2              101000    NF2                    7
CAT EYE SYNDROME                                                        CES         22   22q11                115470                           14
DIGEORGE SYNDROME                                                       DGS         22   22q11.2              188400    TBX1                   10
CHROMOSOME 22q13.3 DELETION SYNDROME                                                22   22q13.3              606232    PSAP2, ACR, RABL2B 4
ANGELMAN SYNDROME                                                       AS          X    Xq28, 15q11-q13      105830    UBE3A                        Samp region with PWS(maternal deletion)


LISSENCEPHALY, X-LINKED                                                 LISX        X    Xq23                 300067    DCX                    4
MENTAL RETARDATION, X-LINKED, WITH ISOLATED GROWTH HORMONE DEFICIENCY   MRGH        X    Xq26.3               300123    SOX3                   2
BRUTON AGAMMAGLOBULINEMIA TYROSINE KINASE BTK                                       X    Xq21.3 ~ q22         300300    BTK                    3
HETEROTAXY, VISCERAL, X-LINKED                                          HTX         X    Xq26.2               306955    ZIC3                   4
GLYCEROL KINASE DEFICIENCY                                              GKD         X    Xp21.3               307030    GK                     7
STEROID SULFATASE DEFICIENCY DISEASE                                    STS         X    Xp22.31              308100                           3
KALLMANN SYNDROME 1                                                     KAL1        X    Xp22.3               308700    KAL                    6
FRAGILE SITE MENTAL RETARDATION 1 GENE FMR1                                         X    Xq27.3               309550                           3
MICROPHTHALMIA, SYNDROMIC 7                                             MCOPS7      X    Xp22                 309801    Xp22.3 ~ Xp22.2
MUSCULAR DYSTROPHY, DUCHENNE TYPE                                       DMD         X    Xp21.2, 12q21        310200    DMD                    14
MYOTUBULAR MYOPATHY 1                                                   MTM1        X    Xq28                 310400    MTM1                   3
PELIZAEUS-MERZBACHER DISEASE                                            PMD         X    Xq22                 312080    PLP1                   4
X INACTIVATION-SPECIFIC TRANSCRIPT                                      XIST        X    Xq13.2               314670    XIST                   4
ADRENAL HYPOPLASIA, CONGENITAL/DOSAGE-SENSITIVE SEX REVERSAL            AHC/DSS     X    Xp21.2            300200/300018 NR0B1                 4
SPERMATOGENIC FAILURE, NONOBSTRUCTIVE, Y-LINKED                                     Y    Yq11.23              415000    DAZ                    4
                             TOTAL                                             85                                                              432

				
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