View all genes

298 entries on 3 pages. Showing entries 1 - 100.
« First ‹ Prev     1 2 3     Next › Last »

AscendingSymbol     

Gene     

Chr     

Band

Transcripts     

Variants     

Unique variants     

Last updated     

Associated with diseases
ABCA4 ATP-binding cassette, sub-family A (ABC1), member 4 1 p22 1 54 54 2013-11-13 CORD3, RP, RP19, STGD1
ABCC6 ATP-binding cassette, sub-family C (CFTR/MRP), member 6 16 p13.11 5 0 0 N/A -
ABHD12 abhydrolase domain containing 12 20 p11.21 2 2 2 N/A -
ADAM9 ADAM metallopeptidase domain 9 8 p11.23 4 2 2 N/A -
ADAMTS18 ADAM metallopeptidase with thrombospondin type 1 motif, 18 16 q23 1 5 5 2013-12-11 -
AFG3L1P AFG3-like AAA ATPase 1, pseudogene 16 q24.3 1 4 4 2013-11-19 -
AHI1 Abelson helper integration site 1 6 q23.2 10 0 0 N/A -
AIP aryl hydrocarbon receptor interacting protein 11 q13.3 1 65 65 2013-12-11 -
AIPL1 aryl hydrocarbon receptor interacting protein-like 1 17 p13.1 8 8 8 N/A -
ALMS1 Alstrom syndrome 1 2 p13.1 2 0 0 N/A -
ANKRD11 ankyrin repeat domain 11 16 q24.3 1 5 5 2013-11-19 -
ARL13B ADP-ribosylation factor-like 13B 3 q11 5 0 0 N/A -
ARL6 ADP-ribosylation factor-like 6 3 q11.2 3 0 0 N/A RP
ARMS2 age-related maculopathy susceptibility 2 10 q26.13 1 0 0 N/A -
ASIP agouti signaling protein 20 q11.2-q12 1 1 1 2013-11-19 -
ATOH7 atonal homolog 7 (Drosophila) 10 q22.2 1 1 1 2013-11-19 -
ATXN7 ataxin 7 3 p21.1-p12 9 0 0 N/A -
B3GALNT2 beta-1,3-N-acetylgalactosaminyltransferase 2 1 q42.3 1 6 6 2013-11-19 -
B3GNT1 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 1 11 q13.2 1 2 2 2013-11-19 -
BBS1 Bardet-Biedl syndrome 1 11 q13 5 0 0 N/A -
BBS10 Bardet-Biedl syndrome 10 12 q21.2 1 0 0 N/A -
BBS12 Bardet-Biedl syndrome 12 4 q27 2 0 0 N/A -
BBS2 Bardet-Biedl syndrome 2 16 q21 4 0 0 N/A -
BBS4 Bardet-Biedl syndrome 4 15 q22.3-q23 4 0 0 N/A -
BBS5 Bardet-Biedl syndrome 5 2 q31 3 0 0 N/A -
BBS7 Bardet-Biedl syndrome 7 4 q27 2 0 0 N/A -
BBS9 Bardet-Biedl syndrome 9 7 p14 6 0 0 N/A -
BEST1 bestrophin 1 11 q12 2 11 9 N/A -
C10orf105 chromosome 10 open reading frame 105 10 q22.1 1 1 1 2013-11-19 -
C1QTNF5 C1q and tumor necrosis factor related protein 5 11 q23.3 2 0 0 N/A -
C2 complement component 2 6 p21.3 4 0 0 N/A -
C2orf71 chromosome 2 open reading frame 71 2 p23.2 1 3 3 N/A RP
C3 complement component 3 19 p13.3-p13.2 1 0 0 N/A -
C5orf42 chromosome 5 open reading frame 42 5 p13.2 11 0 0 N/A -
C8orf37 chromosome 8 open reading frame 37 8 q22.1 2 1 1 N/A -
CA4 carbonic anhydrase IV 17 q23.1 1 3 3 N/A -
CABP4 calcium binding protein 4 11 q13.2 4 0 0 N/A -
CACNA1F calcium channel, voltage-dependent, L type, alpha 1F subunit X p11.23 1 0 0 N/A -
CACNA2D4 calcium channel, voltage-dependent, alpha 2/delta subunit 4 12 p13.33 1 1 1 N/A -
CAPN5 calpain 5 11 q14 1 0 0 N/A -
CC2D2A coiled-coil and C2 domain containing 2A 4 p15.33 7 0 0 N/A -
CDH23 cadherin-related 23 10 q22.1 9 7 7 N/A -
CDH3 cadherin 3, type 1, P-cadherin (placental) 16 q22.1 2 0 0 N/A -
CDHR1 cadherin-related family member 1 10 q23.1 2 0 0 N/A RP
CDK10 cyclin-dependent kinase 10 16 q24.3 1 2 2 2013-11-19 -
CDKL5 cyclin-dependent kinase-like 5 X p22 1 11 11 2013-12-11 -
CENPBD1 CENPB DNA-binding domains containing 1 16 q24.3 1 1 1 2013-11-19 -
CEP164 centrosomal protein 164kDa 11 q23.3 12 0 0 N/A -
CEP290 centrosomal protein 290kDa 12 q21.33 1 0 0 N/A -
CEP41 centrosomal protein 41kDa 7 q32 5 0 0 N/A -
CERKL ceramide kinase-like 2 q31.3 7 2 2 N/A RP
CFB complement factor B 6 p21.3 1 0 0 N/A -
CFH complement factor H 1 q32 2 0 0 2013-11-09 -
CHM choroideremia (Rab escort protein 1) X q21.1-q21.3 2 0 0 N/A -
CHMP1A charged multivesicular body protein 1A 16 q24.3 1 1 1 2013-11-19 -
CIB2 calcium and integrin binding family member 2 15 q24 6 0 0 N/A 614869
CLN3 ceroid-lipofuscinosis, neuronal 3 16 p12 5 0 0 N/A -
CLN5 ceroid-lipofuscinosis, neuronal 5 13 q21.2-q32 1 0 0 N/A -
CLN6 ceroid-lipofuscinosis, neuronal 6, late infantile, variant 15 q23 5 0 0 N/A -
CLN8 ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation) 8 p23.3 9 0 0 N/A -
CLRN1 clarin 1 3 q21-q25 3 9 8 N/A RP
CNGA1 cyclic nucleotide gated channel alpha 1 4 p12 4 4 4 N/A -
CNGA3 cyclic nucleotide gated channel alpha 3 2 q11.2 2 0 0 N/A -
CNGB1 cyclic nucleotide gated channel beta 1 16 q13 2 2 2 N/A -
CNGB3 cyclic nucleotide gated channel beta 3 8 q21.3 1 1 1 N/A -
CNNM4 cyclin M4 2 q11.2 1 5 5 N/A -
COL11A1 collagen, type XI, alpha 1 1 p21 4 0 0 N/A -
COL2A1 collagen, type II, alpha 1 12 q12-q13.2 2 0 0 N/A -
COL9A1 collagen, type IX, alpha 1 6 q13 2 0 0 N/A -
CPNE7 copine VII 16 q24.3 1 2 2 2013-11-19 -
CRB1 crumbs homolog 1 (Drosophila) 1 q31-q32.1 6 9 9 N/A -
CRX cone-rod homeobox 19 q13.3 3 5 3 N/A -
CTC1 CTS telomere maintenance complex component 1 17 p13.1 1 10 10 2013-12-11 -
CYP1B1 cytochrome P450, family 1, subfamily B, polypeptide 1 2 p22.2 1 0 0 N/A GLC3A
CYP4V2 cytochrome P450, family 4, subfamily V, polypeptide 2 4 q35.2 2 34 34 N/A -
DBNDD1 dysbindin (dystrobrevin binding protein 1) domain containing 1 16 q24.3 1 1 1 2013-11-19 -
DENND2A DENN/MADD domain containing 2A 7 q34 1 1 1 2013-11-19 -
DFNB31 deafness, autosomal recessive 31 9 q32 7 1 1 N/A -
DHDDS dehydrodolichyl diphosphate synthase 1 p35.3 4 1 1 N/A -
DPEP1 dipeptidase 1 (renal) 16 q24 1 1 1 2013-11-19 -
EFEMP1 EGF containing fibulin-like extracellular matrix protein 1 2 p16 2 1 1 N/A -
ELOVL4 ELOVL fatty acid elongase 4 6 q14 1 1 1 2013-11-10 STGD3
ERCC6 excision repair cross-complementing rodent repair deficiency, complementation group 6 10 q11 4 0 0 N/A -
ESRRG estrogen-related receptor gamma 1 q41 1 1 1 2013-11-19 -
EYS eyes shut homolog (Drosophila) 6 q12 3 2 2 N/A -
FAM161A family with sequence similarity 161, member A 2 p15 3 5 5 N/A -
FAM66B family with sequence similarity 66, member B 8 p23.1 1 2 2 2013-11-19 -
FAM66E family with sequence similarity 66, member E 8 p23.1 1 2 2 2013-11-19 -
FAM78B family with sequence similarity 78, member B 1 q24.1 1 1 1 2013-11-19 -
FANCA Fanconi anemia, complementation group A 16 q24.3 1 6 6 2013-11-19 -
FBLN5 fibulin 5 14 q31 1 0 0 N/A -
FBXL17 F-box and leucine-rich repeat protein 17 5 q21.3 1 1 1 2013-11-19 -
FGFR3 fibroblast growth factor receptor 3 4 p16.3 1 1 1 2013-11-19 -
FKRP fukutin related protein 19 q13.32 1 3 3 2013-11-19 -
FKTN fukutin 9 q31-q33 1 5 5 2013-11-19 -
FLVCR1 feline leukemia virus subgroup C cellular receptor 1 1 q32.3 1 3 3 N/A -
FSCN2 fascin homolog 2, actin-bundling protein, retinal (Strongylocentrotus purpuratus) 17 q25 4 0 0 N/A -
FZD4 frizzled family receptor 4 11 q14-q21 1 6 6 N/A -
GAS8 growth arrest-specific 8 16 q24.3 1 1 1 2013-11-19 -
GIGYF2 GRB10 interacting GYF protein 2 2 q37.1 1 1 1 2013-12-11 -
« First ‹ Prev     1 2 3     Next › Last »