 Symbol
|
 Gene
|
Chr
|
Band
|
Transcripts
|
Variants
|
Unique variants
|
Last updated
|
Associated with diseases
|
| A1BG |
alpha-1-B glycoprotein |
19 |
q13.43 |
1 |
14 |
5 |
2019-12-04 |
- |
| 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 |
49 |
38 |
2019-12-06 |
- |
| A2M |
alpha-2-macroglobulin |
12 |
p13.31 |
1 |
4 |
4 |
2019-12-04 |
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 |
139 |
101 |
2019-12-06 |
- |
| 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 |
2019-12-04 |
blood group P |
| A4GNT |
alpha-1,4-N-acetylglucosaminyltransferase |
3 |
p14.3 |
1 |
1 |
1 |
2019-12-19 |
- |
| AAAS |
achalasia, adrenocortical insufficiency, alacrimia |
12 |
q13 |
2 |
13 |
11 |
2019-12-06 |
AAAS, ID |
| AACS |
acetoacetyl-CoA synthetase |
12 |
q24.31 |
1 |
2 |
2 |
2019-12-04 |
- |
| AACSP1 |
acetoacetyl-CoA synthetase pseudogene 1 |
5 |
q35 |
1 |
0 |
0 |
N/A |
- |
| AADAC |
arylacetamide deacetylase |
3 |
q25.1 |
1 |
1 |
1 |
2018-12-07 |
- |
| AADACL2 |
arylacetamide deacetylase-like 2 |
3 |
q25.1 |
1 |
0 |
0 |
N/A |
- |
| AADACL3 |
arylacetamide deacetylase-like 3 |
1 |
p36.21 |
2 |
1 |
1 |
2019-12-04 |
- |
| 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 |
0 |
0 |
N/A |
PPKP-1A |
| AAK1 |
AP2 associated kinase 1 |
2 |
p13.3 |
1 |
3 |
3 |
2019-12-04 |
- |
| AAMDC |
adipogenesis associated, Mth938 domain containing |
11 |
q14.1 |
1 |
2 |
2 |
2019-12-04 |
- |
| AAMP |
angio-associated, migratory cell protein |
2 |
q |
1 |
8 |
7 |
2019-12-04 |
- |
| AANAT |
aralkylamine N-acetyltransferase |
17 |
q25 |
1 |
14 |
10 |
2019-12-06 |
DSPS |
| AAR2 |
AAR2 splicing factor homolog |
20 |
q11.23 |
1 |
0 |
0 |
N/A |
- |
| AARD |
alanine and arginine rich domain containing protein |
8 |
q24.11 |
1 |
0 |
0 |
2019-12-04 |
- |
| AARS |
alanyl-tRNA synthetase |
16 |
q22 |
1 |
86 |
58 |
2020-02-02 |
CMT2N, EIEE-29 |
| AARS2 |
alanyl-tRNA synthetase 2, mitochondrial |
6 |
p21.1 |
1 |
38 |
31 |
2019-12-06 |
COXPD-8, ID, leukoencephalopathy, progressive, with ovarian failure |
| AARSD1 |
alanyl-tRNA synthetase domain containing 1 |
17 |
q21.31 |
1 |
18 |
11 |
2019-12-06 |
- |
| AASDH |
aminoadipate-semialdehyde dehydrogenase |
4 |
q12 |
1 |
1 |
1 |
2019-12-04 |
- |
| AASDHPPT |
aminoadipate-semialdehyde dehydrogenase-phosphopantetheinyl transferase |
11 |
q22 |
1 |
0 |
0 |
N/A |
- |
| AASS |
aminoadipate-semialdehyde synthase |
7 |
q31.3 |
1 |
11 |
11 |
2019-12-06 |
Hyperlysinemia, saccharopinuria |
| AATF |
apoptosis antagonizing transcription factor |
17 |
q12 |
1 |
1 |
1 |
2019-12-04 |
- |
| AATK |
apoptosis-associated tyrosine kinase |
17 |
q25.3 |
1 |
4 |
4 |
2019-12-04 |
- |
| AATK-AS1 |
AATK antisense RNA 1 |
17 |
q25.3 |
1 |
0 |
0 |
N/A |
- |
| ABAT |
4-aminobutyrate aminotransferase |
16 |
p13.2 |
1 |
6 |
6 |
2019-12-04 |
Gamma-aminobutyric acid transaminase deficiency |
| ABCA1 |
ATP-binding cassette, sub-family A (ABC1), member 1 |
9 |
q31 |
1 |
702 |
539 |
2019-12-06 |
FH, HDLCD-2, TGD |
| ABCA10 |
ATP-binding cassette, sub-family A (ABC1), member 10 |
17 |
q24 |
1 |
1 |
1 |
2019-12-04 |
- |
| ABCA11P |
ATP-binding cassette, sub-family A (ABC1), member 11, pseudogene |
4 |
p16.3 |
1 |
13 |
13 |
2019-12-04 |
- |
| ABCA12 |
ATP-binding cassette, sub-family A (ABC1), member 12 |
2 |
q34 |
1 |
111 |
82 |
2019-12-04 |
ARCI-4A, ARCI-4B |
| ABCA13 |
ATP-binding cassette, sub-family A (ABC1), member 13 |
7 |
p12.3 |
1 |
89 |
46 |
2019-12-04 |
- |
| 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 |
15 |
14 |
2019-12-04 |
- |
| ABCA3 |
ATP-binding cassette, sub-family A (ABC1), member 3 |
16 |
p13.3 |
1 |
19 |
17 |
2019-12-06 |
SMDP-3 |
| ABCA4 |
ATP-binding cassette, sub-family A (ABC1), member 4 |
1 |
p22 |
1 |
8803 |
1196 |
2020-01-10 |
ARMD, ARMD-2, CORD-3, RP-19, STGD-1 |
| ABCA5 |
ATP-binding cassette, sub-family A (ABC1), member 5 |
17 |
q24.3 |
1 |
1 |
1 |
2019-12-04 |
- |
| 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 |
28 |
28 |
2019-12-04 |
- |
| ABCA8 |
ATP-binding cassette, sub-family A (ABC1), member 8 |
17 |
q24 |
1 |
2 |
2 |
2019-12-04 |
- |
| ABCA9 |
ATP-binding cassette, sub-family A (ABC1), member 9 |
17 |
q24 |
1 |
1 |
1 |
2019-12-04 |
- |
| ABCB1 |
ATP-binding cassette, sub-family B (MDR/TAP), member 1 |
7 |
q21.12 |
1 |
11 |
10 |
2019-12-04 |
IBD-13, Colchicine resistance |
| 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 |
63 |
51 |
2019-12-06 |
BRIC-2, PFIC, PFIC-2 |
| ABCB4 |
ATP-binding cassette, sub-family B (MDR/TAP), member 4 |
7 |
q21 |
1 |
53 |
44 |
2019-12-04 |
GBD-1;LPAC, ICP-3, PFIC, PFIC-3 |
| ABCB5 |
ATP-binding cassette, sub-family B (MDR/TAP), member 5 |
7 |
p14 |
1 |
3 |
3 |
2019-12-04 |
- |
| ABCB6 |
ATP-binding cassette, sub-family B (MDR/TAP), member 6 |
2 |
q36 |
1 |
39 |
35 |
2019-12-06 |
DUH-3, LAN, MCOPCB-7 |
| ABCB7 |
ATP-binding cassette, sub-family B (MDR/TAP), member 7 |
X |
q13.3 |
1 |
31 |
19 |
2019-12-04 |
ASAT |
| ABCB8 |
ATP-binding cassette, sub-family B (MDR/TAP), member 8 |
7 |
q36.1 |
1 |
5 |
5 |
2019-12-04 |
- |
| 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 |
6 |
6 |
2019-12-04 |
- |
| ABCC10 |
ATP-binding cassette, sub-family C (CFTR/MRP), member 10 |
6 |
p12.3 |
1 |
5 |
5 |
2019-12-04 |
- |
| ABCC11 |
ATP-binding cassette, sub-family C (CFTR/MRP), member 11 |
16 |
q12 |
1 |
118 |
5 |
2019-12-04 |
ear wax dry |
| ABCC12 |
ATP-binding cassette, sub-family C (CFTR/MRP), member 12 |
16 |
q12.1 |
1 |
5 |
3 |
2019-12-04 |
- |
| 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 |
26 |
20 |
2019-12-06 |
DJS |
| ABCC3 |
ATP-binding cassette, sub-family C (CFTR/MRP), member 3 |
17 |
q21 |
1 |
2 |
2 |
2019-12-06 |
- |
| ABCC4 |
ATP-binding cassette, sub-family C (CFTR/MRP), member 4 |
13 |
q31 |
1 |
9 |
9 |
2019-12-04 |
- |
| ABCC5 |
ATP-binding cassette, sub-family C (CFTR/MRP), member 5 |
3 |
q27 |
1 |
4 |
4 |
2019-12-04 |
- |
| 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 |
1529 |
519 |
2019-12-06 |
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 |
319 |
302 |
2019-12-04 |
HHF1, NIDDM, TNDM, TNMD-2, Leucine-induced hypoglycemia |
| ABCC9 |
ATP-binding cassette, sub-family C (CFTR/MRP), member 9 |
12 |
p12.1 |
1 |
358 |
205 |
2020-01-24 |
ATFB-12, Cantu, CMD-1O |
| ABCD1 |
ATP-binding cassette, sub-family D (ALD), member 1 |
X |
q28 |
1 |
179 |
125 |
2020-01-10 |
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 |
2019-12-04 |
CBAS-5, hepatosplenomegaly |
| ABCD4 |
ATP-binding cassette, sub-family D (ALD), member 4 |
14 |
q24 |
1 |
16 |
16 |
2019-12-06 |
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 |
2019-12-04 |
- |
| ABCF2 |
ATP-binding cassette, sub-family F (GCN20), member 2 |
7 |
q36.1 |
1 |
3 |
3 |
2019-12-04 |
- |
| ABCF3 |
ATP-binding cassette, sub-family F (GCN20), member 3 |
3 |
q27.1 |
1 |
1 |
1 |
2019-12-04 |
- |
| ABCG1 |
ATP-binding cassette, sub-family G (WHITE), member 1 |
21 |
q22.3 |
1 |
1 |
1 |
2019-12-06 |
- |
| ABCG2 |
ATP-binding cassette, sub-family G (WHITE), member 2 |
4 |
q22.1 |
1 |
4 |
4 |
2019-12-04 |
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 |
165 |
154 |
2019-12-06 |
Sitosterolemia |
| ABCG8 |
ATP-binding cassette, sub-family G (WHITE), member 8 |
2 |
p21 |
1 |
246 |
224 |
2019-12-06 |
GDB-4, Sitosterolemia |
| ABHD1 |
abhydrolase domain containing 1 |
2 |
p23.3 |
1 |
3 |
3 |
2019-12-04 |
- |
| ABHD10 |
abhydrolase domain containing 10 |
3 |
q13.2 |
1 |
1 |
1 |
2019-12-04 |
- |
| 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 |
100 |
65 |
2019-12-06 |
PHARC |
| ABHD12B |
abhydrolase domain containing 12B |
14 |
q21.3 |
1 |
1 |
1 |
2019-12-04 |
- |
| ABHD13 |
abhydrolase domain containing 13 |
13 |
q33.2 |
1 |
0 |
0 |
N/A |
- |
| ABHD14A |
abhydrolase domain containing 14A |
3 |
p21.1 |
1 |
15 |
13 |
2019-12-04 |
- |
| ABHD14A-ACY1 |
ABHD14A-ACY1 readthrough (non-protein coding) |
3 |
p21.2 |
1 |
10 |
9 |
2019-12-04 |
- |
| ABHD14B |
abhydrolase domain containing 14B |
3 |
p21.2 |
1 |
4 |
3 |
2019-12-04 |
- |
| ABHD15 |
abhydrolase domain containing 15 |
17 |
q11.2 |
1 |
1 |
1 |
2019-12-04 |
- |
| ABHD16A |
abhydrolase domain containing 16A |
6 |
p21.3 |
1 |
0 |
0 |
N/A |
- |
