View all genes

289 entries on 3 pages. Showing entries 1 - 100.
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AscendingSymbol     

Gene     

Chr     

Band

Transcripts     

Variants     

Unique variants     

Last updated     

Associated with diseases
ABCA7 ATP binding cassette subfamily A member 7 19 p13.3 1 8 7 2017-12-17 AD, PD
ABCB1 ATP binding cassette subfamily B member 1 7 q21.12 1 1 1 2017-12-16 AD
ADCY5 adenylate cyclase 5 3 q21.1 1 1 1 2017-05-12 DMD
ADORA1 adenosine A1 receptor 1 q32.1 1 1 1 2017-06-18 PD
ADRA1A adrenoceptor alpha 1A 8 p21.2 1 1 1 2017-12-16 AD
AFG3L2 AFG3 like matrix AAA peptidase subunit 2 18 p11.21 1 4 4 2017-06-23 OPA, SCA
AGBL3 ATP/GTP binding protein like 3 7 q33 1 1 1 2017-03-21 AD
ALS2 amyotrophic lateral sclerosis 2 (juvenile) 2 q33-q35 1 28 27 2017-06-29 ALS
ANG angiogenin, ribonuclease, RNase A family, 5 14 q11.1-q11.2 1 23 18 2015-10-23 ALS
ANKS1B ankyrin repeat and sterile alpha motif domain containing 1B 12 q23.1 1 5 5 2017-12-14 AD
APEX1 APEX nuclease (multifunctional DNA repair enzyme) 1 14 q11.2 1 1 1 2015-10-23 ALS
APOA1 apolipoprotein A-I 11 q23-q24 1 1 1 2015-10-23 FAN
APOE apolipoprotein E 19 q13.32 1 7 4 2017-12-17 AD, DLB, PD
APP amyloid beta (A4) precursor protein 21 q21.2 1 76 39 2017-12-14 AD, DLB
ARHGEF28 Rho guanine nucleotide exchange factor (GEF) 28 5 q13.2 1 1 1 2015-10-23 ALS
ASPA aspartoacylase 17 p13.3 1 86 67 2017-11-07 CD
ATM ATM serine/threonine kinase 11 q22.3 1 5 5 2017-05-12 DMD
ATP1A3 ATPase, Na+/K+ transporting, alpha 3 polypeptide 19 q13.2 1 11 8 2015-10-23 DMD
ATP7A ATPase, Cu++ transporting, alpha polypeptide X q21.1 1 163 144 2017-06-28 MK
ATP7B ATPase, Cu++ transporting, beta polypeptide 13 q14.3 1 164 118 2017-06-29 WD
ATP8B3 ATPase phospholipid transporting 8B3 19 p13.3 1 1 1 2017-03-21 AD
BCL3 B cell CLL/lymphoma 3 19 q13.32 1 1 1 2017-12-16 AD
BIN1 bridging integrator 1 2 q14.3 1 1 1 2017-12-18 AD
BST1 bone marrow stromal cell antigen 1 4 p15.32 2 3 3 2017-12-18 PD
BTNL2 butyrophilin like 2 6 p21.32 1 1 1 2017-12-18 PD
C10orf2 chromosome 10 open reading frame 2 10 q24 1 8 8 2017-06-22 SCA
C16orf96 chromosome 16 open reading frame 96 16 p13.3 1 1 1 2017-03-21 AD
C1orf112 chromosome 1 open reading frame 112 1 q24.2 1 1 1 2017-12-14 AD
C3orf20 chromosome 3 open reading frame 20 3 p25.1 1 1 1 2017-03-21 AD
C9orf72 chromosome 9 open reading frame 72 9 p21.2 2 21 12 2017-12-13 ALS
CACNA1A calcium channel, voltage-dependent, P/Q type, alpha 1A subunit 19 p13 1 5 4 2015-10-23 SCA
CACNA1G calcium voltage-gated channel subunit alpha1 G 17 q21.33 1 1 1 2017-06-26 SCA
CASS4 Cas scaffolding protein family member 4 20 q13.31 1 4 1 2017-12-17 AD
CCNF cyclin F 16 p13.3 1 12 11 2017-11-18 ALS, FTLD
CD2AP CD2 associated protein 6 p12.3 1 5 3 2017-12-19 AD, PD
CD33 CD33 molecule 19 q13.41 1 7 3 2017-12-19 AD
CDKL5 cyclin-dependent kinase-like 5 X p22 1 65 59 2017-06-29 RTT
CELF1 CUGBP Elav-like family member 1 11 p11.2 1 4 1 2017-12-17 AD
CELF2 CUGBP Elav-like family member 2 10 p14 1 1 1 2017-12-17 AD
CENPJ centromere protein J 13 q12.12-q12.13 1 1 1 2017-03-21 AD
CFAP70 cilia and flagella associated protein 70 10 q22.2 1 1 1 2017-03-21 AD
CHCHD10 coiled-coil-helix-coiled-coil-helix domain containing 10 22 q11.23 1 17 16 2017-11-17 ALS, FTLD
CHGB chromogranin B 20 p12.3 1 2 2 2017-04-18 AD, ALS
CHMP2B charged multivesicular body protein 2B 3 p12.1 1 7 6 2017-11-15 AD, ALS, FTLD
CHRNB2 cholinergic receptor nicotinic beta 2 subunit 1 q21.3 1 1 1 2017-12-17 AD
CLCN1 chloride channel, voltage-sensitive 1 7 q12 1 110 100 2017-06-02 MC
CLCN6 chloride channel, voltage-sensitive 6 1 p36 1 3 3 2015-10-23 NCL
CLN3 ceroid-lipofuscinosis, neuronal 3 16 p12 1 58 53 2015-10-23 NCL
CLN5 ceroid-lipofuscinosis, neuronal 5 13 q21.2-q32 1 45 41 2017-06-12 NCL
CLN6 ceroid-lipofuscinosis, neuronal 6, late infantile, variant 15 q23 1 64 57 2017-06-09 NCL
CLN8 ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation) 8 p23.3 1 24 24 2017-06-09 NCL
CLU clusterin 8 p21.1 1 11 6 2017-12-19 AD, PD
COQ2 coenzyme Q2 4-hydroxybenzoate polyprenyltransferase 4 q21.23 1 24 22 2017-06-07 MSA
CR1 complement C3b/C4b receptor 1 (Knops blood group) 1 q32.2 1 11 7 2017-12-19 AD, PD
CSMD1 CUB and Sushi multiple domains 1 8 p23.2 1 1 1 2017-12-14 AD
CST3 cystatin C 20 p11.21 1 3 1 2017-12-17 AD
CSTB cystatin B (stefin B) 21 q22.3 1 14 11 2017-06-28 ULD
CTSD cathepsin D 11 p15.5 1 3 3 2015-10-23 NCL
CTSF cathepsin F 11 q13.2 1 1 1 2017-03-20 AD
CYP2D6 cytochrome P450, family 2, subfamily D, polypeptide 6 22 q13.1 1 1 1 2015-10-23 DLB
DAO D-amino acid oxidase 12 q24.11 1 1 1 2017-04-15 ALS
DAPK1 death associated protein kinase 1 9 q21.33 1 1 1 2017-12-14 FTLD
DCAF8 DDB1 and CUL4 associated factor 8 1 q23.2 1 1 1 2017-05-24 HMSN
DCTN1 dynactin 1 2 p13 1 9 8 2017-06-19 ALS, PSP
DGKQ diacylglycerol kinase theta 4 p16.3 1 1 1 2017-12-18 PD
DNAJC13 DnaJ (Hsp40) homolog, subfamily C, member 13 3 q22.1 1 19 15 2017-06-05 DLB, PD
DSG2 desmoglein 2 18 q12.1 1 2 1 2017-12-16 AD
DYNC1H1 dynein cytoplasmic 1 heavy chain 1 14 q32.31 1 1 1 2017-05-25 HMSN
EBLN1 endogenous Bornavirus-like nucleoprotein 1 10 p12.31 1 1 1 2017-03-21 AD
EGR2 early growth response 2 10 q21.1 1 4 4 2017-05-25 HMSN
ELOVL4 ELOVL fatty acid elongase 4 6 q14.1 1 3 3 2017-06-23 SCA
ELOVL5 ELOVL fatty acid elongase 5 6 p12.1 1 3 2 2017-06-23 SCA
EPHA1-AS1 EPHA1 antisense RNA 1 7 q35 1 3 2 2017-12-19 AD
EPM2A epilepsy, progressive myoclonus type 2A, Lafora disease (laforin) 6 q24 1 63 50 2017-06-01 LD
ERCC5 excision repair cross-complementation group 5 13 q22-q34 1 25 23 2015-10-23 CS
ERCC6 excision repair cross-complementation group 6 10 q11 1 73 71 2017-05-11 CS
ERCC8 excision repair cross-complementation group 8 5 q12.1 1 26 24 2017-06-29 CS
EXOC3L2 exocyst complex component 3 like 2 19 q13.32 1 2 2 2017-12-16 AD
FAM134B family with sequence similarity 134, member B 5 p15.1 1 4 3 2015-10-23 HSAN
FAM47E family with sequence similarity 47 member E 4 q21.1 1 1 1 2017-03-21 AD
FANCD2 Fanconi anemia complementation group D2 3 p25.3 1 2 2 2017-12-16 AD
FBXO7 F-box protein 7 22 q12.3 1 1 1 2017-06-17 PD
FERMT2 fermitin family member 2 14 q22.1 1 5 2 2017-12-17 AD
FGD4 FYVE, RhoGEF and PH domain containing 4 12 p11.1 1 7 7 2015-10-23 HMSN
FIG4 FIG4 phosphoinositide 5-phosphatase 6 q21 1 5 5 2015-10-23 HMSN
FOXG1 forkhead box G1 14 q12 1 22 19 2017-06-20 RTT
FPR1 formyl peptide receptor 1 19 q13.41 1 1 1 2017-03-21 AD
FRAS1 Fraser extracellular matrix complex subunit 1 4 q21.21 1 1 1 2017-03-21 AD
FRMD4A FERM domain containing 4A 10 p13 1 3 3 2017-12-15 AD
FUS FUS RNA binding protein 16 p11.2 1 80 38 2017-11-17 ALS, FTLD
GAK cyclin G associated kinase 4 p16.3 1 3 2 2017-12-18 PD
GAL3ST4 galactose-3-O-sulfotransferase 4 7 q22.1 1 1 1 2017-03-21 AD
GALNT3 polypeptide N-acetylgalactosaminyltransferase 3 2 q24.3 1 1 1 2017-12-18 PD
GBA glucosidase, beta, acid 1 q22 1 12 10 2017-12-18 DLB, PD
GCH1 GTP cyclohydrolase 1 14 q22.1-q22.2 1 75 62 2017-12-18 DMD, PD
GDAP1 ganglioside induced differentiation associated protein 1 8 q13.3 1 16 15 2017-05-26 HMSN
GFAP glial fibrillary acidic protein 17 q21 1 109 89 2017-05-18 ALXDRD, FTLD
GJB1 gap junction protein, beta 1, 32kDa X q13.1 1 34 34 2017-05-24 HMSN
GLE1 GLE1 RNA export mediator 9 q34.13 1 11 10 2017-04-20 ALS
GNAL G protein subunit alpha L 18 p11.21 1 5 5 2017-05-15 DMD
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