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 Symbol
|
 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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