Genes, Locations and Genetic Disorders on Chromosome 1

Last Updated: Sun Aug 6 22:00:02 EDT 2000
GeneGDB AccessionIDLocationOMIM Link
ABCA4 GDB:3707481p13-1p13 1p22-1p21 MACULAR DEGENERATION, SENILE
STARGARDT DISEASE 1; STGD1
ATP BINDING CASSETTE TRANSPORTER; ABCR
RETINITIS PIGMENTOSA-19; RP19
ABCD3 GDB:1314851p22-1p21 PEROXISOMAL MEMBRANE PROTEIN 1; PXMP1
ACADM GDB:1189581p31-1p31 ACYL-CoA DEHYDROGENASE, MEDIUM-CHAIN; ACADM
AGL GDB:1326441p21-1p21 GLYCOGEN STORAGE DISEASE III
AGT GDB:1187501q42-1q43 ANGIOTENSIN I; AGT
ALDH4 GDB:99588271p36-1p36 HYPERPROLINEMIA, TYPE II
ALPL GDB:1187301p36.1-1p34 PHOSPHATASE, LIVER ALKALINE; ALPL
AMPD1 GDB:1196771p13-1p13 ADENOSINE MONOPHOSPHATE DEAMINASE-1; AMPD1
APOA2 GDB:1196851q21-1q23 APOLIPOPROTEIN A-II; APOA2
AT3 GDB:1190241q23-1q25.1 ANTITHROMBIN III DEFICIENCY
BRCD2 GDB:99553221p36-1p36 BREAST CANCER, DUCTAL, 2; BRCD2
C1QA GDB:1190421p36.3-1p34.1 COMPLEMENT COMPONENT 1, q SUBCOMPONENT, ALPHA POLYPEPTIDE; C1QA
C1QB GDB:1190431p36.3-1p34.1 COMPLEMENT COMPONENT 1, q SUBCOMPONENT, BETA POLYPEPTIDE; C1QB
C1QG GDB:1281321p36.3-1p34.1 COMPLEMENT COMPONENT 1, q SUBCOMPONENT, GAMMA POLYPEPTIDE; C1QG
C8A GDB:1197351p32-1p32 COMPLEMENT COMPONENT-8, DEFICIENCY OF
C8B GDB:1197361p32-1p32 COMPLEMENT COMPONENT-8, DEFICIENCY OF, TYPE II
CACNA1S GDB:1264311q31-1q32 CALCIUM CHANNEL, VOLTAGE-DEPENDENT, L TYPE, ALPHA 1S SUBUNIT; CACNA1S
PERIODIC PARALYSIS I
MALIGNANT HYPERTHERMIA SUSCEPTIBILITY-5; MHS5
CACP GDB:98642551q25-1q31.2 ARTHROPATHY-CAMPTODACTYLY SYNDROME
CCV GDB:13366551p36-1p36 CATARACT, CONGENITAL, VOLKMANN TYPE; CCV
CD3Z GDB:1197661q22-1q23 CD3Z ANTIGEN, ZETA POLYPEPTIDE; CD3Z
CDC2L1 GDB:1278271p36-1p36 PROTEIN KINASE p58; PK58
CHML GDB:1352221q31-1qter 1q42-1qter CHOROIDEREMIA-LIKE; CHML
CHS1 GDB:45682021q42.1-1q42.2 CHEDIAK-HIGASHI SYNDROME; CHS1
CLCNKB GDB:6984721p36-1p36 CHLORIDE CHANNEL, KIDNEY, B; CLCNKB
CMD1A GDB:4344781p1-1q1 CARDIOMYOPATHY, DILATED 1A; CMD1A
CMH2 GDB:1373241q3-1q3 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 2; CMH2
CMM GDB:1190591p36-1p36 MELANOMA, MALIGNANT
CMT2A GDB:1286451p36-1p36 CHARCOT-MARIE-TOOTH DISEASE, NEURONAL TYPE, A; CMT2A
COL11A1 GDB:1205951p21-1p21 COLLAGEN, TYPE XI, ALPHA-1; COL11A1
COL9A2 GDB:1383101p33-1p32.3 COLLAGEN, TYPE IX, ALPHA-2 CHAIN; COL9A2
CPT2 GDB:1272721p32-1p32 MYOPATHY WITH DEFICIENCY OF CARNITINE PALMITOYLTRANSFERASE II
HYPOGLYCEMIA, HYPOKETOTIC, WITH DEFICIENCY OF CARNITINE PALMITOYLTRANSFERASE
CARNITINE PALMITOYLTRANSFERASE II; CPT2
CRB1 GDB:3339301q31-1q32.1 RETINITIS PIGMENTOSA-12; RP12
CSE GDB:5961821p-1p 1p31-1p31 1p33-1p32.3 CHOREOATHETOSIS/SPASTICITY, EPISODIC; CSE
CSF3R GDB:1264301p35-1p34.3 COLONY STIMULATING FACTOR 3 RECEPTOR, GRANULOCYTE; CSF3R
CTPA GDB:98631681pter-1p36.31 CATARACT, POSTERIOR POLAR
CTSK GDB:4539101q21-1q21 PYCNODYSOSTOSIS
CATHEPSIN K; CTSK
DBT GDB:1187841p31-1p31 MAPLE SYRUP URINE DISEASE, TYPE 2
DFNA2 GDB:4390461p-1p 1p34-1p32 DEAFNESS, AUTOSOMAL DOMINANT NONSYNDROMIC SENSORINEURAL, 2; DFNA2
DIO1 GDB:1364491p33-1p32 THYROXINE DEIODINASE TYPE I; TXDI1
DPYD GDB:3641021p22-1p22 DIHYDROPYRIMIDINE DEHYDROGENASE; DPYD
EDM2 GDB:3075401p32-1p32 EPIPHYSEAL DYSPLASIA, MULTIPLE, 2; EDM2
EKV GDB:1191061pter-1qter 1p35.1-1p35.1 ERYTHROKERATODERMIA VARIABILIS; EKV
ENO1 GDB:1198711p36-1p36 1pter-1p36.13 1p36.2-1p36.2 PHOSPHOPYRUVATE HYDRATASE; PPH
ENO1P GDB:1350061pter-1qter PHOSPHOPYRUVATE HYDRATASE; PPH
EPB41 GDB:1198651p34.2-1p33 1p36.2-1p34 ERYTHROCYTE MEMBRANE PROTEIN BAND 4.1; EPB41
EPHX1 GDB:1198761p11-1qter 1q42.1-1q42.1 EPOXIDE HYDROLASE 1, MICROSOMAL; EPHX1
F13B GDB:1198931q31-1q32.1 FACTOR XIII, B SUBUNIT; F13B
F5 GDB:1198961q21-1q25 1q23-1q23 FACTOR V DEFICIENCY
FCGR2A GDB:1199031q23-1q23 Fc FRAGMENT OF IgG, LOW AFFINITY IIa, RECEPTOR FOR; FCGR2A
FCGR2B GDB:1281831q23-1q23 Fc FRAGMENT OF IgG, LOW AFFINITY IIa, RECEPTOR FOR; FCGR2A
FCGR3A GDB:1199041q23-1q23 Fc FRAGMENT OF IgG, LOW AFFINITY IIIa, RECEPTOR FOR; FCGR3A
FCHL GDB:98375031q21-1q23 HYPERLIPIDEMIA, COMBINED
FH GDB:1191331q42.1-1q42.1 FUMARATE HYDRATASE; FH
FMO3 GDB:1351361q-1q 1q23-1q24 FLAVIN-CONTAINING MONOOXYGENASE 3; FMO3
TRIMETHYLAMINURIA
FMO4 GDB:1279811q-1q FLAVIN-CONTAINING MONOOXYGENASE 2; FMO2
FUCA1 GDB:1192371p34-1p34 1p35-1p34 FUCOSIDOSIS
FY GDB:1192421q22-1q23 BLOOD GROUP--DUFFY SYSTEM; Fy
GALE GDB:1192451p36-1p35 GALACTOSE EPIMERASE DEFICIENCY
GBA GDB:1192621q21-1q21 GAUCHER DISEASE, TYPE I; GD I
GFND GDB:99582221q32-1q32 GLOMERULAR NEPHRITIS, FAMILIAL, WITH FIBRONECTIN DEPOSITS
GJA8 GDB:6963691pter-1qter 1q21-1q25 CATARACT, ZONULAR PULVERULENT 1; CZP1
GAP JUNCTION PROTEIN, ALPHA-8, 50-KD; GJA8
GJB3 GDB:1278201p35-1p33 1p35.1-1p35.1 ERYTHROKERATODERMIA VARIABILIS; EKV
GLC3B GDB:38019391p36-1p36 GLAUCOMA 3, PRIMARY INFANTILE, B; GLC3B
HF1 GDB:1200411q32-1q32 H FACTOR 1; HF1
HMGCL GDB:1384451p36.1-1p35 HYDROXYMETHYLGLUTARICACIDURIA; HMGCL
HPC1 GDB:52152091q24-1q25 PROSTATE CANCER; PRCA1
PROSTATE CANCER, HEREDITARY 1
HRD GDB:98622541q42-1q43 HYPOPARATHYROIDISM WITH SHORT STATURE, MENTAL RETARDATION, AND SEIZURES
HRPT2 GDB:1252531q21-1q31 HYPERPARATHYROIDISM, FAMILIAL PRIMARY, WITH MULTIPLE OSSIFYING JAW
HSD3B2 GDB:1340441p13.1-1p13.1 ADRENAL HYPERPLASIA II
LAMB3 GDB:2518201q32-1q32 LAMININ, BETA 3; LAMB3
LAMC2 GDB:1362251q31-1q31 LAMININ, GAMMA 2; LAMC2
EPIDERMOLYSIS BULLOSA LETALIS
LGMD1B GDB:2316061q11-1q21 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1B; LGMD1B
LMNA GDB:1321461q21.2-1q21.3 LAMIN A/C; LMNA
LIPODYSTROPHY, FAMILIAL PARTIAL, DUNNIGAN TYPE; LDP1
LOR GDB:1320491q21-1q21 LORICRIN; LOR
MCKD1 GDB:98593811q21-1q21 POLYCYSTIC KIDNEYS, MEDULLARY TYPE
MCL1 GDB:1391371q21-1q21 MYELOID CELL LEUKEMIA 1; MCL1
MTHFR GDB:3708821p36.3-1p36.3 5,10-@METHYLENETETRAHYDROFOLATE REDUCTASE; MTHFR
MTR GDB:1194401pter-1qter 1q43-1q43 METHYLTETRAHYDROFOLATE:L-HOMOCYSTEINE S-METHYLTRANSFERASE; MTR
MYOC GDB:55842211q23-1q24 GLAUCOMA 1, OPEN ANGLE; GLC1A
MYOCILIN; MYOC
NB GDB:99587051p36.3-1p36.2 NEUROBLASTOMA; NB
NCF2 GDB:1202231cen-1q32 1q25-1q25 GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL CYTOCHROME-b-POSITIVE FORM
NEM1 GDB:1273871q22-1q23 NEMALINE MYOPATHY 1, AUTOSOMAL DOMINANT; NEM1
NPPA GDB:1187271p36-1p36 NATRIURETIC PEPTIDE PRECURSOR A; NPPA
NRAS GDB:1194571p13-1p13 1p13.1-1p13.1 1p13.2-1p13.2 ONCOGENE NRAS; NRAS; NRAS1
NTRK1 GDB:1278971q21-1q22 NEUROTROPHIC TYROSINE KINASE, RECEPTOR, TYPE 1; NTRK1
OPTA2 GDB:99555771p21-1p21 OSTEOPETROSIS, AUTOSOMAL DOMINANT, TYPE II; OPA2
PBX1 GDB:1253511q23-1q23 PRE-B-CELL LEUKEMIA TRANSCRIPTION FACTOR-1; PBX1
PCHC GDB:99555861p-1p PHEOCHROMOCYTOMA
PGD GDB:1194861p36.2-1p36.13 1p36.3-1p36.13 6-@PHOSPHOGLUCONATE DEHYDROGENASE, ERYTHROCYTE
PHA2A GDB:99556281q31-1q42 PSEUDOHYPOALDOSTERONISM, TYPE II; PHA2
PHGDH GDB:99582611-1 3-@PHOSPHOGLYCERATE DEHYDROGENASE DEFICIENCY
PKLR GDB:1202941q21-1q21 PYRUVATE KINASE DEFICIENCY OF ERYTHROCYTE
PKP1 GDB:42495981q-1q 1q32-1q32 PLAKOPHILIN 1; PKP1
PLA2G2A GDB:1202961p35-1p35 1p36.1-1p35 PHOSPHOLIPASE A2, GROUP IIA; PLA2G2A
PLOD GDB:1278211p36.3-1p36.2 PROCOLLAGEN-LYSINE, 2-OXOGLUTARATE 5-DIOXYGENASE; PLOD
EHLERS-DANLOS SYNDROME, TYPE VI; E-D VI; EDS VI
PPOX GDB:1188521q22-1q22 1q23-1q23 1q22-1q22 1q23-1q23 PROTOPORPHYRINOGEN OXIDASE; PPOX
PPT GDB:1252271p32-1p32 CEROID-LIPOFUSCINOSIS, NEURONAL 1, INFANTILE; CLN1
PALMITOYL-PROTEIN THIOESTERASE; PPT
PRCC GDB:38882151q21.2-1q21.2 PAPILLARY RENAL CELL CARCINOMA; PRCC
PSEN2 GDB:6330441q31-1q42 ALZHEIMER DISEASE, FAMILIAL, TYPE 4; AD4
PTOS1 GDB:62799201p34.1-1p32 PTOSIS, HEREDITARY CONGENITAL 1; PTOS1
REN GDB:1203451q32-1q32 RENIN; REN
RFX5 GDB:62884641q21-1q21 REGULATORY FACTOR 5; RFX5
RHD GDB:1195511p36.2-1p34 RHESUS BLOOD GROUP, D ANTIGEN; RHD
RMD1 GDB:4489021q41-1q41 RIPPLING MUSCLE DISEASE-1; RMD1
RPE65 GDB:2265191p31-1p31 RETINAL PIGMENT EPITHELIUM-SPECIFIC PROTEIN, 65-KD; RPE65
AMAUROSIS CONGENITA OF LEBER II
SCCD GDB:99555581p36-1p34.1 CORNEAL DYSTROPHY, CRYSTALLINE, OF SCHNYDER
SJS1 GDB:13816311p36-1p36 1p36.1-1p34 MYOTONIC MYOPATHY, DWARFISM, CHONDRODYSTROPHY, AND OCULAR AND FACIAL
SLC19A2 GDB:98377791q23.2-1q23.3
THIAMINE-RESPONSIVE MEGALOBLASTIC ANEMIA SYNDROME
SLC2A1 GDB:1206271p35-1p31.3 SOLUTE CARRIER FAMILY 2, MEMBER 1; SLC2A1
SPTA1 GDB:1196011q21-1q21 SPECTRIN, ALPHA, ERYTHROCYTIC 1; SPTA1
SRN1 GDB:99556171q25-1q31 ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 2; ARVD2
TAL1 GDB:1207591p32-1p32 T-CELL ACUTE LYMPHOCYTIC LEUKEMIA 1; TAL1
TNFSF6 GDB:4221781q23-1q23 APOPTOSIS ANTIGEN LIGAND 1; APT1LG1
TNNT2 GDB:2218791q3-1q3 1q32-1q32 TROPONIN-T2, CARDIAC; TNNT2
TPM3 GDB:1278721q22-1q23 TROPOMYOSIN 3; TPM3
TSHB GDB:1204671p13-1p13 THYROID-STIMULATING HORMONE, BETA CHAIN; TSHB
UMPK GDB:1204811p32-1p32 URIDINE MONOPHOSPHATE KINASE; UMPK
UOX GDB:1275391p22-1p22 URATE OXIDASE; UOX
UROD GDB:1196281p34-1p34 PORPHYRIA CUTANEA TARDA; PCT
USH2A GDB:1204831q41-1q41 USHER SYNDROME, TYPE II; USH2
VMGLOM GDB:99581341p22-1p21 GLOMUS TUMORS, MULTIPLE
VSD1 GDB:2653021p31-1p21 ATRIOVENTRICULAR SEPTAL DEFECT; AVSD
VWS GDB:1205321q32-1q32 1q32-1q42 CLEFT LIP AND/OR PALATE WITH MUCOUS CYSTS OF LOWER LIP
WS2B GDB:4075791p21-1p13.3 WAARDENBURG SYNDROME, TYPE 2B; WS2B