
 Symbol
|

 Gene
|

 Chr
|
 Band
|

 Transcripts
|

 Variants
|

 Unique variants
|

 Last updated
|
 Associated with diseases
|
A1BG |
alpha-1-B glycoprotein |
19 |
q13.43 |
1 |
14 |
5 |
2020-07-16 |
- |
A1BG-AS1 |
A1BG antisense RNA 1 |
19 |
q13.4 |
1 |
0 |
0 |
N/A |
- |
A1CF |
APOBEC1 complementation factor |
10 |
q21.1 |
2 |
0 |
0 |
2016-10-18 |
- |
A2LD1 |
AIG2-like domain 1 |
13 |
q32.3 |
1 |
60 |
47 |
2021-02-08 |
- |
A2M |
alpha-2-macroglobulin |
12 |
p13.31 |
1 |
5 |
5 |
2021-02-08 |
AD, alpha-2-macroglobulin deficiency |
A2M-AS1 |
A2M antisense RNA 1 |
12 |
p13.31 |
1 |
0 |
0 |
N/A |
- |
A2ML1 |
alpha-2-macroglobulin-like 1 |
12 |
p13 |
1 |
158 |
112 |
2021-02-08 |
- |
A2MP1 |
alpha-2-macroglobulin pseudogene 1 |
12 |
p13.31 |
1 |
0 |
0 |
2018-11-03 |
- |
A3GALT2 |
alpha 1,3-galactosyltransferase 2 |
1 |
p35.1 |
1 |
0 |
0 |
2019-12-04 |
- |
A4GALT |
alpha 1,4-galactosyltransferase |
22 |
q13.2 |
1 |
1 |
1 |
2020-07-17 |
blood group P |
A4GNT |
alpha-1,4-N-acetylglucosaminyltransferase |
3 |
p14.3 |
1 |
1 |
1 |
2020-06-15 |
- |
AAAS |
achalasia, adrenocortical insufficiency, alacrimia |
12 |
q13 |
2 |
20 |
17 |
2021-02-08 |
AAAS, ID |
AACS |
acetoacetyl-CoA synthetase |
12 |
q24.31 |
1 |
4 |
4 |
2020-11-05 |
- |
AACSP1 |
acetoacetyl-CoA synthetase pseudogene 1 |
5 |
q35 |
1 |
0 |
0 |
N/A |
- |
AADAC |
arylacetamide deacetylase |
3 |
q25.1 |
1 |
1 |
1 |
2020-06-15 |
- |
AADACL2 |
arylacetamide deacetylase-like 2 |
3 |
q25.1 |
1 |
0 |
0 |
N/A |
- |
AADACL3 |
arylacetamide deacetylase-like 3 |
1 |
p36.21 |
2 |
1 |
1 |
2020-06-03 |
- |
AADACL4 |
arylacetamide deacetylase-like 4 |
1 |
p36.21 |
1 |
0 |
0 |
N/A |
- |
AADAT |
aminoadipate aminotransferase |
4 |
q33 |
1 |
0 |
0 |
N/A |
- |
AAED1 |
AhpC/TSA antioxidant enzyme domain containing 1 |
9 |
q22.32 |
1 |
0 |
0 |
N/A |
- |
AAGAB |
alpha- and gamma-adaptin binding protein |
15 |
q22.33-q23 |
1 |
2 |
2 |
N/A |
PPKP-1A |
AAK1 |
AP2 associated kinase 1 |
2 |
p13.3 |
1 |
4 |
4 |
2021-02-08 |
- |
AAMDC |
adipogenesis associated, Mth938 domain containing |
11 |
q14.1 |
1 |
2 |
2 |
2020-07-01 |
- |
AAMP |
angio-associated, migratory cell protein |
2 |
q |
1 |
10 |
9 |
2020-09-15 |
- |
AANAT |
aralkylamine N-acetyltransferase |
17 |
q25 |
1 |
16 |
11 |
2021-02-08 |
DSPS |
AAR2 |
AAR2 splicing factor homolog |
20 |
q11.23 |
1 |
0 |
0 |
2020-05-11 |
- |
AARD |
alanine and arginine rich domain containing protein |
8 |
q24.11 |
1 |
0 |
0 |
2019-12-04 |
- |
AARS |
alanyl-tRNA synthetase |
16 |
q22 |
1 |
153 |
71 |
2021-02-08 |
CMT2N, DEE29 |
AARS2 |
alanyl-tRNA synthetase 2, mitochondrial |
6 |
p21.1 |
1 |
64 |
48 |
2021-02-08 |
COXPD-8, ID, leukoencephalopathy, progressive, with ovarian failure |
AARSD1 |
alanyl-tRNA synthetase domain containing 1 |
17 |
q21.31 |
1 |
18 |
11 |
2020-07-13 |
- |
AASDH |
aminoadipate-semialdehyde dehydrogenase |
4 |
q12 |
1 |
1 |
1 |
2020-06-16 |
- |
AASDHPPT |
aminoadipate-semialdehyde dehydrogenase-phosphopantetheinyl transferase |
11 |
q22 |
1 |
0 |
0 |
N/A |
- |
AASS |
aminoadipate-semialdehyde synthase |
7 |
q31.3 |
1 |
15 |
14 |
2021-02-08 |
Hyperlysinemia, saccharopinuria |
AATF |
apoptosis antagonizing transcription factor |
17 |
q12 |
1 |
1 |
1 |
2020-07-13 |
- |
AATK |
apoptosis-associated tyrosine kinase |
17 |
q25.3 |
1 |
7 |
7 |
2020-09-15 |
- |
AATK-AS1 |
AATK antisense RNA 1 |
17 |
q25.3 |
1 |
0 |
0 |
N/A |
- |
ABAT |
4-aminobutyrate aminotransferase |
16 |
p13.2 |
1 |
13 |
11 |
2020-09-15 |
Gamma-aminobutyric acid transaminase deficiency |
ABCA1 |
ATP-binding cassette, sub-family A (ABC1), member 1 |
9 |
q31 |
1 |
828 |
650 |
2021-02-08 |
FH, HDLCD-2, TGD |
ABCA10 |
ATP-binding cassette, sub-family A (ABC1), member 10 |
17 |
q24 |
1 |
5 |
5 |
2021-02-08 |
- |
ABCA11P |
ATP-binding cassette, sub-family A (ABC1), member 11, pseudogene |
4 |
p16.3 |
1 |
13 |
13 |
2020-08-06 |
- |
ABCA12 |
ATP-binding cassette, sub-family A (ABC1), member 12 |
2 |
q34 |
1 |
127 |
95 |
2021-02-08 |
ARCI-4A, ARCI-4B |
ABCA13 |
ATP-binding cassette, sub-family A (ABC1), member 13 |
7 |
p12.3 |
1 |
92 |
49 |
2021-02-08 |
- |
ABCA17P |
ATP-binding cassette, sub-family A (ABC1), member 17, pseudogene |
16 |
p13.3 |
1 |
0 |
0 |
N/A |
- |
ABCA2 |
ATP-binding cassette, sub-family A (ABC1), member 2 |
9 |
q34 |
1 |
23 |
20 |
2021-02-08 |
- |
ABCA3 |
ATP-binding cassette, sub-family A (ABC1), member 3 |
16 |
p13.3 |
1 |
31 |
26 |
2021-02-08 |
SMDP-3 |
ABCA4 |
ATP-binding cassette, sub-family A (ABC1), member 4 |
1 |
p22 |
1 |
9843 |
1404 |
2021-02-26 |
ARMD, ARMD-2, CORD-3, RP19, STGD1 |
ABCA5 |
ATP-binding cassette, sub-family A (ABC1), member 5 |
17 |
q24.3 |
1 |
6 |
6 |
2021-02-08 |
- |
ABCA6 |
ATP-binding cassette, sub-family A (ABC1), member 6 |
17 |
q21 |
1 |
1 |
1 |
2019-02-17 |
- |
ABCA7 |
ATP-binding cassette, sub-family A (ABC1), member 7 |
19 |
p13.3 |
1 |
31 |
30 |
2021-02-08 |
- |
ABCA8 |
ATP-binding cassette, sub-family A (ABC1), member 8 |
17 |
q24 |
1 |
2 |
2 |
2020-07-14 |
- |
ABCA9 |
ATP-binding cassette, sub-family A (ABC1), member 9 |
17 |
q24 |
1 |
1 |
1 |
2020-07-14 |
- |
ABCB1 |
ATP-binding cassette, sub-family B (MDR/TAP), member 1 |
7 |
q21.12 |
1 |
14 |
13 |
2021-02-18 |
CLCS, IBD-13 |
ABCB10 |
ATP-binding cassette, sub-family B (MDR/TAP), member 10 |
1 |
q32 |
1 |
0 |
0 |
N/A |
- |
ABCB11 |
ATP-binding cassette, sub-family B (MDR/TAP), member 11 |
2 |
q24 |
1 |
95 |
72 |
2021-02-08 |
BRIC-2, PFIC, PFIC-2 |
ABCB4 |
ATP-binding cassette, sub-family B (MDR/TAP), member 4 |
7 |
q21 |
1 |
71 |
54 |
2021-02-08 |
GBD-1;LPAC, ICP-3, PFIC, PFIC-3 |
ABCB5 |
ATP-binding cassette, sub-family B (MDR/TAP), member 5 |
7 |
p14 |
1 |
4 |
4 |
2021-01-22 |
- |
ABCB6 |
ATP-binding cassette, sub-family B (MDR/TAP), member 6 |
2 |
q36 |
1 |
57 |
44 |
2021-02-08 |
DUH-3, LAN, MCOPCB-7 |
ABCB7 |
ATP-binding cassette, sub-family B (MDR/TAP), member 7 |
X |
q13.3 |
1 |
39 |
24 |
2021-02-08 |
ASAT |
ABCB8 |
ATP-binding cassette, sub-family B (MDR/TAP), member 8 |
7 |
q36.1 |
1 |
7 |
7 |
2020-09-15 |
- |
ABCB9 |
ATP-binding cassette, sub-family B (MDR/TAP), member 9 |
12 |
q24 |
1 |
0 |
0 |
2019-12-04 |
- |
ABCC1 |
ATP-binding cassette, sub-family C (CFTR/MRP), member 1 |
16 |
p13.1 |
1 |
15 |
15 |
2021-02-08 |
- |
ABCC10 |
ATP-binding cassette, sub-family C (CFTR/MRP), member 10 |
6 |
p12.3 |
1 |
6 |
6 |
2020-09-15 |
- |
ABCC11 |
ATP-binding cassette, sub-family C (CFTR/MRP), member 11 |
16 |
q12 |
1 |
120 |
7 |
2020-07-09 |
ear wax dry |
ABCC12 |
ATP-binding cassette, sub-family C (CFTR/MRP), member 12 |
16 |
q12.1 |
1 |
6 |
4 |
2021-02-08 |
- |
ABCC13 |
ATP-binding cassette, sub-family C (CFTR/MRP), member 13, pseudogene |
21 |
q11.2 |
1 |
0 |
0 |
N/A |
- |
ABCC2 |
ATP-binding cassette, sub-family C (CFTR/MRP), member 2 |
10 |
q24 |
1 |
51 |
37 |
2021-02-08 |
DJS |
ABCC3 |
ATP-binding cassette, sub-family C (CFTR/MRP), member 3 |
17 |
q21 |
1 |
2 |
2 |
2021-02-08 |
- |
ABCC4 |
ATP-binding cassette, sub-family C (CFTR/MRP), member 4 |
13 |
q31 |
1 |
10 |
10 |
2020-07-04 |
- |
ABCC5 |
ATP-binding cassette, sub-family C (CFTR/MRP), member 5 |
3 |
q27 |
1 |
4 |
4 |
2020-06-16 |
- |
ABCC5-AS1 |
ABCC5 antisense RNA 1 |
3 |
q27.1 |
1 |
0 |
0 |
N/A |
- |
ABCC6 |
ATP-binding cassette, sub-family C (CFTR/MRP), member 6 |
16 |
p13.11 |
1 |
1582 |
539 |
2021-02-26 |
GACI-2, PXE, PXEFF |
ABCC6P1 |
ATP-binding cassette, sub-family C, member 6 pseudogene 1 |
16 |
p12.3 |
1 |
0 |
0 |
N/A |
- |
ABCC6P2 |
ATP-binding cassette, sub-family C, member 6 pseudogene 2 |
16 |
p13.11 |
1 |
1 |
1 |
N/A |
- |
ABCC8 |
ATP-binding cassette, sub-family C (CFTR/MRP), member 8 |
11 |
p15.1 |
1 |
349 |
323 |
2021-02-08 |
HHF1, NIDDM, TNDM, TNMD-2, Leucine-induced hypoglycemia |
ABCC9 |
ATP-binding cassette, sub-family C (CFTR/MRP), member 9 |
12 |
p12.1 |
1 |
399 |
229 |
2021-02-08 |
ATFB-12, Cantu, CMD-1O |
ABCD1 |
ATP-binding cassette, sub-family D (ALD), member 1 |
X |
q28 |
1 |
202 |
142 |
2021-02-08 |
ALD, ID |
ABCD2 |
ATP-binding cassette, sub-family D (ALD), member 2 |
12 |
q12 |
1 |
0 |
0 |
N/A |
- |
ABCD3 |
ATP-binding cassette, sub-family D (ALD), member 3 |
1 |
p21.3 |
1 |
2 |
2 |
2020-06-04 |
CBAS-5, hepatosplenomegaly |
ABCD4 |
ATP-binding cassette, sub-family D (ALD), member 4 |
14 |
q24 |
1 |
21 |
19 |
2020-07-05 |
ID, aciduria, methylmalonic, and homocystinuria, cblJ type |
ABCE1 |
ATP-binding cassette, sub-family E (OABP), member 1 |
4 |
q31 |
1 |
0 |
0 |
2019-12-04 |
- |
ABCF1 |
ATP-binding cassette, sub-family F (GCN20), member 1 |
6 |
p21.33 |
1 |
1 |
1 |
2020-06-18 |
- |
ABCF2 |
ATP-binding cassette, sub-family F (GCN20), member 2 |
7 |
q36.1 |
1 |
3 |
3 |
2020-06-23 |
- |
ABCF3 |
ATP-binding cassette, sub-family F (GCN20), member 3 |
3 |
q27.1 |
1 |
1 |
1 |
2020-06-16 |
- |
ABCG1 |
ATP-binding cassette, sub-family G (WHITE), member 1 |
21 |
q22.3 |
1 |
0 |
0 |
2021-02-08 |
- |
ABCG2 |
ATP-binding cassette, sub-family G (WHITE), member 2 |
4 |
q22.1 |
1 |
8 |
6 |
2021-02-08 |
UAQTL-1, blood group system, Junior |
ABCG4 |
ATP-binding cassette, sub-family G (WHITE), member 4 |
11 |
q23 |
1 |
0 |
0 |
N/A |
- |
ABCG5 |
ATP-binding cassette, sub-family G (WHITE), member 5 |
2 |
p21 |
1 |
227 |
202 |
2021-02-08 |
Sitosterolemia |
ABCG8 |
ATP-binding cassette, sub-family G (WHITE), member 8 |
2 |
p21 |
1 |
310 |
275 |
2021-02-08 |
GDB-4, Sitosterolemia |
ABHD1 |
abhydrolase domain containing 1 |
2 |
p23.3 |
1 |
3 |
3 |
2020-06-08 |
- |
ABHD10 |
abhydrolase domain containing 10 |
3 |
q13.2 |
1 |
2 |
2 |
2020-08-06 |
- |
ABHD11 |
abhydrolase domain containing 11 |
7 |
q11.23 |
2 |
0 |
0 |
N/A |
- |
ABHD11-AS1 |
ABHD11 antisense RNA 1 (tail to tail) |
7 |
q11.23 |
1 |
0 |
0 |
N/A |
- |
ABHD12 |
abhydrolase domain containing 12 |
20 |
p11.21 |
1 |
115 |
73 |
2021-02-26 |
PHARC |
ABHD12B |
abhydrolase domain containing 12B |
14 |
q21.3 |
1 |
2 |
2 |
2020-07-05 |
- |
ABHD13 |
abhydrolase domain containing 13 |
13 |
q33.2 |
1 |
0 |
0 |
N/A |
- |
ABHD14A |
abhydrolase domain containing 14A |
3 |
p21.1 |
1 |
16 |
14 |
2021-02-08 |
- |
ABHD14A-ACY1 |
ABHD14A-ACY1 readthrough (non-protein coding) |
3 |
p21.2 |
1 |
13 |
11 |
2021-02-08 |
- |
ABHD14B |
abhydrolase domain containing 14B |
3 |
p21.2 |
1 |
3 |
3 |
2021-02-08 |
- |
ABHD15 |
abhydrolase domain containing 15 |
17 |
q11.2 |
1 |
1 |
1 |
2020-07-13 |
- |
ABHD16A |
abhydrolase domain containing 16A |
6 |
p21.3 |
1 |
1 |
1 |
N/A |
- |