Symbol
HGNC ID
Gene
Chr
Band
Transcripts
Variants
Unique variants
Last updated
Associated with diseases
A1BG
HGNC:5
alpha-1-B glycoprotein
19
q13.43
1
11
5
2022-01-23
-
A1BG-AS1
HGNC:37133
A1BG antisense RNA 1
19
q13.4
1
-
-
N/A
-
A1CF
HGNC:24086
APOBEC1 complementation factor
10
q21.1
2
1
1
2024-02-26
-
A2LD1
HGNC:25100
AIG2-like domain 1
13
q32.3
1
75
56
2024-04-19
-
A2M
HGNC:7
alpha-2-macroglobulin
12
p13.31
1
8
7
2023-01-11
AD, alpha-2-macroglobulin deficiency
A2M-AS1
HGNC:27057
A2M antisense RNA 1
12
p13.31
1
-
-
N/A
-
A2ML1
HGNC:23336
alpha-2-macroglobulin-like 1
12
p13
1
177
121
2024-04-19
OMS
A2MP1
HGNC:8
alpha-2-macroglobulin pseudogene 1
12
p13.31
1
-
-
2018-11-03
-
A3GALT2
HGNC:30005
alpha 1,3-galactosyltransferase 2
1
p35.1
1
-
-
2019-12-04
-
A4GALT
HGNC:18149
alpha 1,4-galactosyltransferase
22
q13.2
1
2
2
2023-01-11
blood group P
A4GNT
HGNC:17968
alpha-1,4-N-acetylglucosaminyltransferase
3
p14.3
1
1
1
2020-06-15
-
AAAS
HGNC:13666
achalasia, adrenocortical insufficiency, alacrimia
12
q13
1
42
31
2024-04-19
AAAS, ID
AACS
HGNC:21298
acetoacetyl-CoA synthetase
12
q24.31
1
5
5
2022-05-09
-
AACSP1
HGNC:18226
acetoacetyl-CoA synthetase pseudogene 1
5
q35
1
-
-
N/A
-
AADAC
HGNC:17
arylacetamide deacetylase
3
q25.1
1
1
1
2020-06-15
-
AADACL2
HGNC:24427
arylacetamide deacetylase-like 2
3
q25.1
1
-
-
N/A
-
AADACL3
HGNC:32037
arylacetamide deacetylase-like 3
1
p36.21
2
1
1
2020-06-03
-
AADACL4
HGNC:32038
arylacetamide deacetylase-like 4
1
p36.21
1
-
-
N/A
-
AADAT
HGNC:17929
aminoadipate aminotransferase
4
q33
1
-
-
N/A
-
AAED1
HGNC:16881
AhpC/TSA antioxidant enzyme domain containing 1
9
q22.32
1
1
1
N/A
-
AAGAB
HGNC:25662
alpha- and gamma-adaptin binding protein
15
q22.33-q23
1
9
7
N/A
PPKP1A
AAK1
HGNC:19679
AP2 associated kinase 1
2
p13.3
1
4
4
2024-02-26
-
AAMDC
HGNC:30205
adipogenesis associated, Mth938 domain containing
11
q14.1
1
2
2
2020-07-01
-
AAMP
HGNC:18
angio-associated, migratory cell protein
2
q
1
11
10
2022-05-09
-
AANAT
HGNC:19
aralkylamine N-acetyltransferase
17
q25
1
20
13
2024-04-19
DSPS
AAR2
HGNC:15886
AAR2 splicing factor homolog
20
q11.23
1
1
1
2021-09-17
-
AARD
HGNC:33842
alanine and arginine rich domain containing protein
8
q24.11
1
1
1
2024-04-19
-
AARS
HGNC:20
alanyl-tRNA synthetase
16
q22
1
188
94
2024-04-29
CMT2N, DEE29
AARS2
HGNC:21022
alanyl-tRNA synthetase 2, mitochondrial
6
p21.1
1
89
62
2024-04-19
COXPD8, ID, LKENP
AARSD1
HGNC:28417
alanyl-tRNA synthetase domain containing 1
17
q21.31
1
18
11
2020-07-13
-
AASDH
HGNC:23993
aminoadipate-semialdehyde dehydrogenase
4
q12
1
1
1
2021-09-17
-
AASDHPPT
HGNC:14235
aminoadipate-semialdehyde dehydrogenase-phosphopantetheinyl transferase
11
q22
1
-
-
2022-09-15
-
AASS
HGNC:17366
aminoadipate-semialdehyde synthase
7
q31.3
1
23
21
2024-04-19
Hyperlysinemia, saccharopinuria
AATF
HGNC:19235
apoptosis antagonizing transcription factor
17
q12
1
1
1
2020-07-13
-
AATK
HGNC:21
apoptosis-associated tyrosine kinase
17
q25.3
1
8
8
2020-09-15
-
AATK-AS1
HGNC:40053
AATK antisense RNA 1
17
q25.3
1
-
-
N/A
-
ABAT
HGNC:23
4-aminobutyrate aminotransferase
16
p13.2
1
23
19
2024-04-19
Gamma-aminobutyric acid transaminase deficiency
ABCA1
HGNC:29
ATP-binding cassette, sub-family A (ABC1), member 1
9
q31
1
1091
871
2024-05-31
FH, HDLCD2, TGD
ABCA10
HGNC:30
ATP-binding cassette, sub-family A (ABC1), member 10
17
q24
1
8
8
2024-04-19
-
ABCA11P
HGNC:31
ATP-binding cassette, sub-family A (ABC1), member 11, pseudogene
4
p16.3
1
13
13
2020-08-06
-
ABCA12
HGNC:14637
ATP-binding cassette, sub-family A (ABC1), member 12
2
q34
1
149
111
2024-02-26
ARCI4A, ARCI4B
ABCA13
HGNC:14638
ATP-binding cassette, sub-family A (ABC1), member 13
7
p12.3
1
114
68
2024-04-19
-
ABCA17P
HGNC:32972
ATP-binding cassette, sub-family A (ABC1), member 17, pseudogene
16
p13.3
1
-
-
N/A
-
ABCA2
HGNC:32
ATP-binding cassette, sub-family A (ABC1), member 2
9
q34
1
40
36
2024-04-19
IDPOGSA
ABCA3
HGNC:33
ATP-binding cassette, sub-family A (ABC1), member 3
16
p13.3
1
50
40
2024-02-26
SMDP3
ABCA4
HGNC:34
ATP-binding cassette, sub-family A (ABC1), member 4
1
p22
1
34513
2792
2024-05-31
ARMD, ARMD2, CORD3, RP19, STGD1
ABCA5
HGNC:35
ATP-binding cassette, sub-family A (ABC1), member 5
17
q24.3
1
14
10
2024-04-19
HTC3
ABCA6
HGNC:36
ATP-binding cassette, sub-family A (ABC1), member 6
17
q21
1
5
5
2022-05-09
-
ABCA7
HGNC:37
ATP-binding cassette, sub-family A (ABC1), member 7
19
p13.3
1
35
34
2024-04-19
AD9
ABCA8
HGNC:38
ATP-binding cassette, sub-family A (ABC1), member 8
17
q24
1
2
2
2020-07-14
-
ABCA9
HGNC:39
ATP-binding cassette, sub-family A (ABC1), member 9
17
q24
1
1
1
2020-07-14
-
ABCB1
HGNC:40
ATP-binding cassette, sub-family B (MDR/TAP), member 1
7
q21.12
2
16
14
2024-04-19
CLCS, IBD13
ABCB10
HGNC:41
ATP-binding cassette, sub-family B (MDR/TAP), member 10
1
q32
1
-
-
N/A
-
ABCB11
HGNC:42
ATP-binding cassette, sub-family B (MDR/TAP), member 11
2
q24
1
120
89
2024-03-27
BRIC2, PFIC, PFIC2
ABCB4
HGNC:45
ATP-binding cassette, sub-family B (MDR/TAP), member 4
7
q21
2
114
86
2024-05-13
GBD1;LPAC, ICP3, PFIC, PFIC3
ABCB5
HGNC:46
ATP-binding cassette, sub-family B (MDR/TAP), member 5
7
p14
1
4
4
2021-01-22
-
ABCB6
HGNC:47
ATP-binding cassette, sub-family B (MDR/TAP), member 6
2
q36
1
83
64
2024-02-26
DUH3, LAN, MCOPCB7, PSHK2
ABCB7
HGNC:48
ATP-binding cassette, sub-family B (MDR/TAP), member 7
X
q13.3
1
51
33
2024-04-19
ASAT
ABCB8
HGNC:49
ATP-binding cassette, sub-family B (MDR/TAP), member 8
7
q36.1
1
7
7
2020-09-15
-
ABCB9
HGNC:50
ATP-binding cassette, sub-family B (MDR/TAP), member 9
12
q24
1
-
-
2019-12-04
-
ABCC1
HGNC:51
ATP-binding cassette, sub-family C (CFTR/MRP), member 1
16
p13.1
1
27
27
2024-04-19
-
ABCC10
HGNC:52
ATP-binding cassette, sub-family C (CFTR/MRP), member 10
6
p12.3
1
9
8
2024-02-09
-
ABCC11
HGNC:14639
ATP-binding cassette, sub-family C (CFTR/MRP), member 11
16
q12
1
120
7
2021-09-29
ear wax dry
ABCC12
HGNC:14640
ATP-binding cassette, sub-family C (CFTR/MRP), member 12
16
q12.1
1
6
4
2021-02-08
-
ABCC13
HGNC:16022
ATP-binding cassette, sub-family C (CFTR/MRP), member 13, pseudogene
21
q11.2
1
-
-
N/A
-
ABCC2
HGNC:53
ATP-binding cassette, sub-family C (CFTR/MRP), member 2
10
q24
1
64
50
2023-01-11
DJS
ABCC3
HGNC:54
ATP-binding cassette, sub-family C (CFTR/MRP), member 3
17
q21
1
5
4
2024-04-19
-
ABCC4
HGNC:55
ATP-binding cassette, sub-family C (CFTR/MRP), member 4
13
q31
1
10
10
2020-07-04
-
ABCC5
HGNC:56
ATP-binding cassette, sub-family C (CFTR/MRP), member 5
3
q27
1
4
4
2020-06-16
-
ABCC5-AS1
HGNC:40055
ABCC5 antisense RNA 1
3
q27.1
1
-
-
N/A
-
ABCC6
HGNC:57
ATP-binding cassette, sub-family C (CFTR/MRP), member 6
16
p13.11
1
1733
572
2024-04-23
GACI2, PXE, PXEFF
ABCC6P1
HGNC:33352
ATP-binding cassette, sub-family C, member 6 pseudogene 1
16
p12.3
1
-
-
N/A
-
ABCC6P2
HGNC:33353
ATP-binding cassette, sub-family C, member 6 pseudogene 2
16
p13.11
1
1
1
N/A
-
ABCC8
HGNC:59
ATP-binding cassette, sub-family C (CFTR/MRP), member 8
11
p15.1
1
565
503
2024-04-19
HHF1, LIH, NIDDM, PNDM3, TNDM, TNDM2
ABCC9
HGNC:60
ATP-binding cassette, sub-family C (CFTR/MRP), member 9
12
p12.1
1
459
261
2024-04-19
ATFB12, Cantu, CMD1O, IDMYS
ABCD1
HGNC:61
ATP-binding cassette, sub-family D (ALD), member 1
X
q28
1
266
184
2024-04-22
ALD, ID
ABCD2
HGNC:66
ATP-binding cassette, sub-family D (ALD), member 2
12
q12
1
1
1
N/A
-
ABCD3
HGNC:67
ATP-binding cassette, sub-family D (ALD), member 3
1
p21.3
1
3
3
2024-02-26
CBAS5, hepatosplenomegaly
ABCD4
HGNC:68
ATP-binding cassette, sub-family D (ALD), member 4
14
q24
1
37
28
2024-04-19
ID, MAHCJ
ABCE1
HGNC:69
ATP-binding cassette, sub-family E (OABP), member 1
4
q31
1
-
-
2019-12-04
-
ABCF1
HGNC:70
ATP-binding cassette, sub-family F (GCN20), member 1
6
p21.33
1
1
1
2020-06-18
-
ABCF2
HGNC:71
ATP-binding cassette, sub-family F (GCN20), member 2
7
q36.1
1
3
3
2020-06-23
-
ABCF3
HGNC:72
ATP-binding cassette, sub-family F (GCN20), member 3
3
q27.1
1
3
3
2023-01-11
-
ABCG1
HGNC:73
ATP-binding cassette, sub-family G (WHITE), member 1
21
q22.3
1
-
-
2024-04-19
-
ABCG2
HGNC:74
ATP-binding cassette, sub-family G (WHITE), member 2
4
q22.1
1
12
10
2022-10-14
JR, UAQTL1
ABCG4
HGNC:13884
ATP-binding cassette, sub-family G (WHITE), member 4
11
q23
1
-
-
N/A
-
ABCG5
HGNC:13886
ATP-binding cassette, sub-family G (WHITE), member 5
2
p21
1
399
354
2024-02-26
STSL, STSL2
ABCG8
HGNC:13887
ATP-binding cassette, sub-family G (WHITE), member 8
2
p21
1
462
410
2024-02-26
GDB4, STSL, STSL1
ABHD1
HGNC:17553
abhydrolase domain containing 1
2
p23.3
1
3
3
2024-01-23
-
ABHD10
HGNC:25656
abhydrolase domain containing 10
3
q13.2
1
3
3
2020-08-06
-
ABHD11
HGNC:16407
abhydrolase domain containing 11
7
q11.23
2
-
-
N/A
-
ABHD11-AS1
HGNC:18289
ABHD11 antisense RNA 1 (tail to tail)
7
q11.23
1
-
-
N/A
-
ABHD12
HGNC:15868
abhydrolase domain containing 12
20
p11.21
1
166
100
2024-04-19
PHARC
ABHD12B
HGNC:19837
abhydrolase domain containing 12B
14
q21.3
1
3
3
2024-04-19
-
ABHD13
HGNC:20293
abhydrolase domain containing 13
13
q33.2
1
-
-
N/A
-
ABHD14A
HGNC:24538
abhydrolase domain containing 14A
3
p21.1
1
21
18
2024-04-19
-
ABHD14A-ACY1
HGNC:38856
ABHD14A-ACY1 readthrough (non-protein coding)
3
p21.2
1
18
15
2024-04-19
-
ABHD14B
HGNC:28235
abhydrolase domain containing 14B
3
p21.2
1
5
4
2024-04-19
-
ABHD15
HGNC:26971
abhydrolase domain containing 15
17
q11.2
1
1
1
2020-07-13
-
ABHD16A
HGNC:13921
abhydrolase domain containing 16A
6
p21.3
1
13
7
2022-05-09
-