Genes, Locations and Genetic Disorders on Chromosome 8

Last Updated: Sun Aug 6 22:00:02 EDT 2000
GeneGDB AccessionIDLocationOMIM Link
ACHM3 GDB:91205588q21-8q22 PINGELAPESE BLINDNESS
ADRB3 GDB:2038698p12-8p11.1 8p12-8p11.2 BETA-3-ADRENERGIC RECEPTOR; ADRB3
ALUNC GDB:94783498p12-8p12 8p22-8p21 ALOPECIA UNIVERSALIS
HAIRLESS, MOUSE, HOMOLOG OF
ANK1 GDB:1187378p11.2-8p11.2 8p12-8p11.2 SPHEROCYTOSIS, HEREDITARY; HS
CA1 GDB:1190478q22-8q22 8q13-8q22.1 CARBONIC ANHYDRASE I, ERYTHROCYTE, ELECTROPHORETIC VARIANTS OF; CA1
CA2 GDB:1197398q22-8q22 8q13-8q22.1 OSTEOPETROSIS WITH RENAL TUBULAR ACIDOSIS
CCAL1 GDB:5128928q-8q CHONDROCALCINOSIS WITH EARLY-ONSET OSTEOARTHRITIS; CCAL2
CLN8 GDB:2521188p23-8p23 EPILEPSY, PROGRESSIVE, WITH MENTAL RETARDATION; EPMR
CMT4A GDB:1387558q-8q 8q13-8q21.1 CHARCOT-MARIE-TOOTH NEUROPATHY 4A; CMT4A
CNGB3 GDB:99932868q21-8q22 PINGELAPESE BLINDNESS

COH1 GDB:2521228q22-8q23 COHEN SYNDROME; COH1
CPP GDB:1197988q21.13-8q23.1 CERULOPLASMIN; CP
CRH GDB:1198048q13-8q13 CORTICOTROPIN-RELEASING HORMONE; CRH
CYP11B1 GDB:1206038q21-8q21 8q21-8q22 ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 11-@BETA-HYDROXYLASE DEFICIENCY
CYP11B2 GDB:1205148q21-8q21 8q21-8q22 CYTOCHROME P450, SUBFAMILY XIB, POLYPEPTIDE 2; CYP11B2
DECR GDB:4539348q21.3-8q21.3 2,4-@DIENOYL-CoA REDUCTASE; DECR
DPYS GDB:58858038q22-8q22 DIHYDROPYRIMIDINASE; DPYS
DURS1 GDB:99581268q13-8q13 DUANE SYNDROME
EBN2 GDB:1387758q-8q 8q23-8q24 CONVULSIONS, BENIGN FAMILIAL NEONATAL, TYPE 2; BFNC2
EBS1 GDB:1198568pter-8qter EPIDERMOLYSIS BULLOSA SIMPLEX, OGNA TYPE
EGI GDB:1288308q24-8q24 EPILEPSY, GENERALIZED, IDIOPATHIC; EGI
EXT1 GDB:1359948q24.11-8q24.11 EXOSTOSES, MULTIPLE, TYPE I; EXT1
CHONDROSARCOMA
EYA1 GDB:52151678q13.3-8q13.3 BRANCHIOOTORENAL DYSPLASIA
EYES ABSENT 1; EYA1
FGFR1 GDB:1199138p12-8p12 8p11.2-8p11.1 FIBROBLAST GROWTH FACTOR RECEPTOR-1; FGFR1
GNRH1 GDB:1337468p21-8p11.2 GONADOTROPIN-RELEASING HORMONE 1; GNRH1
FAMILIAL HYPOGONADOTROPHIC
GSR GDB:1192888p21.1-8p21.1 GLUTATHIONE REDUCTASE; GSR
GULOP GDB:1280788p21.1-8p21.1 SCURVY
HR GDB:5954998p12-8p12 8p21.2-8p21.2 ALOPECIA UNIVERSALIS
ATRICHIA WITH PAPULAR LESIONS
HAIRLESS, MOUSE, HOMOLOG OF
KCNQ3 GDB:97872308q24.22-8q24.3 POTASSIUM CHANNEL, VOLTAGE-GATED, SUBFAMILY Q, MEMBER 3
KFM GDB:2652918q22.2-8q22.2 KLIPPEL-FEIL SYNDROME; KFS; KFM
KWE GDB:93151208p23-8p22 KERATOLYTIC WINTER ERYTHEMA
LGCR GDB:1206988q24.11-8q24.13 LANGER-GIEDION SYNDROME; LGS
LPL GDB:1207008p22-8p22 HYPERLIPOPROTEINEMIA, TYPE I
MCPH1 GDB:98345258p23-8p23 8pter-8p22 MICROCEPHALY; MCT
MOS GDB:1193968q11-8q11 TRANSFORMATION GENE: ONCOGENE MOS
MYC GDB:1202088q24.12-8q24.13 TRANSFORMATION GENE: ONCOGENE MYC; MYC
NAT1 GDB:1253648p23.1-8p21.3 ARYLAMIDE ACETYLASE 1; AAC1
NAT2 GDB:1253658p22-8p22 ISONIAZID INACTIVATION
NBS1 GDB:95982118q21-8q21 8q21-8q24 8q21.3-8q21.3 8q21.13-8q21.3 NIJMEGEN BREAKAGE SYNDROME

PLAT GDB:1194968p12-8p11 8p12-8p12 PLASMINOGEN ACTIVATOR, TISSUE; PLAT
PLEC1 GDB:41190738q24-8q24 8q24.13-8qter EPIDERMOLYSIS BULLOSA SIMPLEX AND LIMB-GIRDLE MUSCULAR DYSTROPHY
PLECTIN 1; PLEC1
PRKDC GDB:2347028q11-8q11 8q12-8q13 SEVERE COMBINED IMMUNODEFICIENCY DISEASE-1; SCID1
PROTEIN KINASE, DNA-ACTIVATED, CATALYTIC SUBUNIT; PRKDC
PXMP3 GDB:1314878q21.1-8q21.1 PEROXIN-2; PEX2
RP1 GDB:1203528p11-8q21 8q12-8q13 RETINITIS PIGMENTOSA-1; RP1
SCZD6 GDB:98647368p21-8p21 DISORDER-2; SCZD2

SFTPC GDB:1203738p21-8p21 PULMONARY SURFACTANT APOPROTEIN PSP-C
SGM1 GDB:1353508q-8q KLIPPEL-FEIL SYNDROME; KFS; KFM
SPG5A GDB:2503328p11-8q13 SPASTIC PARAPLEGIA-5A, AUTOSOMAL RECESSIVE; SPG5A
STAR GDB:6354578p11.2-8p11.2 STEROIDOGENIC ACUTE REGULATORY PROTEIN; STAR
TG GDB:1204348q24-8q24 8q24.2-8q24.3 THYROGLOBULIN; TG
TRPS1 GDB:5949608q24.1-8q24.1 8q24.12-8q24.12 8q24.11-8q24.11 TRICHORHINOPHALANGEAL SYNDROME, TYPE I; TRPS1
TTPA GDB:5123648q13-8q13 VITAMIN E, FAMILIAL ISOLATED DEFICIENCY OF; VED
TOCOPHEROL (ALPHA) TRANSFER PROTEIN; TTPA
VMD1 GDB:1196318q-8q MACULAR DYSTROPHY, ATYPICAL VITELLIFORM; VMD1
WRN GDB:1284468p12-8p12 WERNER SYNDROME; WRN