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Symbol
|
Gene
|
Chr
|
Band
|
Transcripts
|
Variants
|
Unique variants
|
Last updated
|
Associated with diseases
|
AADAT |
aminoadipate aminotransferase |
4 |
q33 |
4 |
0 |
0 |
N/A |
- |
AARS2 |
alanyl-tRNA synthetase 2, mitochondrial |
6 |
p21.1 |
3 |
93 |
90 |
2013-11-13 |
COXPD8, LKENP |
AASS |
aminoadipate-semialdehyde synthase |
7 |
q31.3 |
1 |
0 |
0 |
N/A |
- |
ABAT |
4-aminobutyrate aminotransferase |
16 |
p13.2 |
3 |
0 |
0 |
N/A |
- |
ABCA13 |
ATP binding cassette subfamily A member 13 |
7 |
p12.3 |
29 |
0 |
0 |
N/A |
- |
ABCA9 |
ATP-binding cassette, sub-family A (ABC1), member 9 |
17 |
q24 |
5 |
0 |
0 |
N/A |
- |
ABCB10 |
ATP-binding cassette, sub-family B (MDR/TAP), member 10 |
1 |
q32 |
1 |
0 |
0 |
N/A |
- |
ABCB6 |
ATP-binding cassette, sub-family B (MDR/TAP), member 6 |
2 |
q36 |
1 |
0 |
0 |
N/A |
- |
ABCB7 |
ATP-binding cassette, sub-family B (MDR/TAP), member 7 |
X |
q13.3 |
5 |
0 |
0 |
N/A |
- |
ABCB8 |
ATP-binding cassette, sub-family B (MDR/TAP), member 8 |
7 |
q36.1 |
1 |
0 |
0 |
N/A |
- |
ABCB9 |
ATP binding cassette subfamily B member 9 |
12 |
q24 |
13 |
0 |
0 |
N/A |
- |
ABCC12 |
ATP-binding cassette, sub-family C (CFTR/MRP), member 12 |
16 |
q12.1 |
1 |
0 |
0 |
N/A |
- |
ABCC8 |
ATP-binding cassette, sub-family C (CFTR/MRP), member 8 |
11 |
p15.1 |
1 |
15 |
13 |
2013-11-26 |
NIDDM |
ABCC9 |
ATP-binding cassette, sub-family C (CFTR/MRP), member 9 |
12 |
p12.1 |
1 |
2 |
2 |
2014-04-18 |
- |
ABCD1 |
ATP-binding cassette, sub-family D (ALD), member 1 |
X |
q28 |
1 |
0 |
0 |
N/A |
- |
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 |
2 |
0 |
0 |
N/A |
- |
ABCF2 |
ATP-binding cassette, sub-family F (GCN20), member 2 |
7 |
q36.1 |
3 |
0 |
0 |
N/A |
- |
ABHD10 |
abhydrolase domain containing 10 |
3 |
q13.2 |
2 |
0 |
0 |
N/A |
- |
ABHD11 |
abhydrolase domain containing 11 |
7 |
q11.23 |
5 |
0 |
0 |
N/A |
- |
ABHD5 |
abhydrolase domain containing 5 |
3 |
p21.33 |
1 |
0 |
0 |
N/A |
- |
ABI1 |
abl interactor 1 |
10 |
p12.1 |
1 |
3 |
3 |
2019-06-16 |
- |
ACAA1 |
acetyl-CoA acyltransferase 1 |
3 |
p22.2 |
3 |
0 |
0 |
N/A |
- |
ACAA2 |
acetyl-CoA acyltransferase 2 |
18 |
q21 |
3 |
0 |
0 |
N/A |
- |
ACACA |
acetyl-CoA carboxylase alpha |
17 |
q21 |
5 |
0 |
0 |
N/A |
- |
ACACB |
acetyl-CoA carboxylase beta |
12 |
q24.1 |
5 |
0 |
0 |
N/A |
- |
ACAD10 |
acyl-CoA dehydrogenase family, member 10 |
12 |
q24.12 |
2 |
0 |
0 |
N/A |
- |
ACAD11 |
acyl-CoA dehydrogenase family, member 11 |
3 |
q22.1 |
1 |
0 |
0 |
N/A |
- |
ACAD8 |
acyl-CoA dehydrogenase family, member 8 |
11 |
q25 |
7 |
0 |
0 |
N/A |
- |
ACAD9 |
acyl-CoA dehydrogenase family, member 9 |
3 |
q21.3 |
2 |
69 |
62 |
N/A |
611126 |
ACADL |
acyl-CoA dehydrogenase, long chain |
2 |
q34 |
2 |
24 |
23 |
N/A |
- |
ACADM |
acyl-CoA dehydrogenase, C-4 to C-12 straight chain |
1 |
p31 |
2 |
217 |
205 |
N/A |
ACADMD |
ACADS |
acyl-CoA dehydrogenase, C-2 to C-3 short chain |
12 |
q24.31 |
2 |
147 |
126 |
N/A |
ACADSD |
ACADSB |
acyl-CoA dehydrogenase, short/branched chain |
10 |
q25-q26 |
1 |
0 |
0 |
N/A |
- |
ACADVL |
acyl-CoA dehydrogenase, very long chain |
17 |
p13.1 |
4 |
366 |
327 |
N/A |
201460, ACADVLD |
ACAT1 |
acetyl-CoA acetyltransferase 1 |
11 |
q22.3 |
1 |
95 |
85 |
N/A |
203750 |
ACAT2 |
acetyl-CoA acetyltransferase 2 |
6 |
q25.3-q26 |
1 |
0 |
0 |
N/A |
- |
ACCS |
1-aminocyclopropane-1-carboxylate synthase homolog (inactive) |
11 |
p11 |
0 |
0 |
0 |
N/A |
- |
ACLY |
ATP citrate lyase |
17 |
q21.2 |
7 |
0 |
0 |
N/A |
- |
ACN9 |
ACN9 homolog (S. cerevisiae) |
7 |
q22.1 |
1 |
0 |
0 |
N/A |
- |
ACO1 |
aconitase 1, soluble |
9 |
p21.1 |
1 |
0 |
0 |
N/A |
- |
ACO2 |
aconitase 2, mitochondrial |
22 |
q13.2 |
3 |
15 |
15 |
N/A |
ICRD |
ACOT2 |
acyl-CoA thioesterase 2 |
14 |
q24.3 |
2 |
0 |
0 |
N/A |
- |
ACOT7 |
acyl-CoA thioesterase 7 |
1 |
p36 |
4 |
0 |
0 |
N/A |
- |
ACOT9 |
acyl-CoA thioesterase 9 |
X |
p22.11 |
5 |
0 |
0 |
N/A |
- |
ACOX1 |
acyl-CoA oxidase 1, palmitoyl |
17 |
q25.1 |
5 |
0 |
0 |
N/A |
- |
ACOX3 |
acyl-CoA oxidase 3, pristanoyl |
4 |
p15.3 |
2 |
0 |
0 |
N/A |
- |
ACP6 |
acid phosphatase 6, lysophosphatidic |
1 |
q21 |
1 |
0 |
0 |
N/A |
- |
ACSF3 |
acyl-CoA synthetase family member 3 |
16 |
q24.3 |
6 |
0 |
0 |
N/A |
- |
ACSL1 |
acyl-CoA synthetase long-chain family member 1 |
4 |
q35 |
1 |
0 |
0 |
N/A |
- |
ACSL4 |
acyl-CoA synthetase long-chain family member 4 |
X |
q22.3-q23 |
2 |
0 |
0 |
N/A |
- |
ACSL5 |
acyl-CoA synthetase long-chain family member 5 |
10 |
q25.1-q25.2 |
3 |
0 |
0 |
N/A |
- |
ACSL6 |
acyl-CoA synthetase long-chain family member 6 |
5 |
q31 |
6 |
0 |
0 |
N/A |
- |
ACSM1 |
acyl-CoA synthetase medium-chain family member 1 |
16 |
p12.3 |
5 |
0 |
0 |
N/A |
- |
ACSM3 |
acyl-CoA synthetase medium-chain family member 3 |
16 |
p13.11 |
2 |
0 |
0 |
N/A |
- |
ACSS1 |
acyl-CoA synthetase short-chain family member 1 |
20 |
p11.23-p11.21 |
4 |
0 |
0 |
N/A |
- |
ACSS3 |
acyl-CoA synthetase short-chain family member 3 |
12 |
q21.31 |
5 |
0 |
0 |
N/A |
- |
ACTC1 |
actin, alpha, cardiac muscle 1 |
15 |
q14 |
1 |
3 |
3 |
2014-04-18 |
- |
ACTG1 |
actin, gamma 1 |
17 |
q25 |
1 |
0 |
0 |
2013-12-10 |
- |
ACTN2 |
actinin, alpha 2 |
1 |
q42-q43 |
2 |
1 |
1 |
2014-04-18 |
- |
ACYP2 |
acylphosphatase 2, muscle type |
2 |
p16.2 |
1 |
0 |
0 |
N/A |
- |
ADCK1 |
aarF domain containing kinase 1 |
14 |
q24 |
2 |
0 |
0 |
N/A |
- |
ADCK2 |
aarF domain containing kinase 2 |
7 |
q34 |
2 |
0 |
0 |
N/A |
- |
ADCK3 |
aarF domain containing kinase 3 |
1 |
q42.11 |
8 |
107 |
99 |
N/A |
COQ10D4 |
ADCK4 |
aarF domain containing kinase 4 |
19 |
q13.2 |
2 |
0 |
0 |
N/A |
- |
ADCK5 |
aarF domain containing kinase 5 |
8 |
q24.3 |
3 |
0 |
0 |
N/A |
- |
ADHFE1 |
alcohol dehydrogenase, iron containing, 1 |
8 |
q12.3 |
17 |
0 |
0 |
N/A |
- |
ADRB2 |
adrenoceptor beta 2, surface |
5 |
q31-q32 |
1 |
1 |
1 |
2013-11-26 |
601665 |
ADRB3 |
adrenoceptor beta 3 |
8 |
p12 |
1 |
2 |
1 |
2013-11-26 |
601665 |
ADSL |
adenylosuccinate lyase |
22 |
q13.1 |
2 |
0 |
0 |
N/A |
- |
AFG3L2 |
AFG3-like AAA ATPase 2 |
18 |
p11.21 |
1 |
14 |
14 |
N/A |
SCA28 |
AGK |
acylglycerol kinase |
7 |
q34 |
1 |
62 |
60 |
N/A |
212350 |
AGMAT |
agmatine ureohydrolase (agmatinase) |
1 |
p36.13 |
1 |
0 |
0 |
N/A |
- |
AGPAT5 |
1-acylglycerol-3-phosphate O-acyltransferase 5 |
8 |
p23.1 |
1 |
0 |
0 |
N/A |
- |
AGPS |
alkylglycerone phosphate synthase |
2 |
q |
1 |
0 |
0 |
N/A |
- |
AGR2 |
anterior gradient 2 |
7 |
p21.3 |
2 |
0 |
0 |
N/A |
- |
AGXT |
alanine-glyoxylate aminotransferase |
2 |
q37.3 |
1 |
0 |
0 |
N/A |
- |
AGXT2 |
alanine--glyoxylate aminotransferase 2 |
5 |
p13 |
5 |
0 |
0 |
N/A |
- |
AHCYL1 |
adenosylhomocysteinase like 1 |
1 |
p13 |
7 |
0 |
0 |
N/A |
- |
AIFM1 |
apoptosis-inducing factor, mitochondrion-associated, 1 |
X |
q26.1 |
5 |
37 |
37 |
N/A |
COXPD6 |
AIFM2 |
apoptosis-inducing factor, mitochondrion-associated, 2 |
10 |
q22.2 |
7 |
0 |
0 |
N/A |
- |
AIFM3 |
apoptosis-inducing factor, mitochondrion-associated, 3 |
22 |
q11.21 |
4 |
0 |
0 |
N/A |
- |
AIMP1 |
aminoacyl tRNA synthetase complex-interacting multifunctional protein 1 |
4 |
q24 |
1 |
1 |
1 |
2014-04-18 |
- |
AIPL1 |
aryl hydrocarbon receptor interacting protein-like 1 |
17 |
p13.1 |
1 |
8 |
8 |
2014-04-18 |
- |
AK2 |
adenylate kinase 2 |
1 |
p35.1 |
5 |
34 |
27 |
N/A |
267500 |
AK3 |
adenylate kinase 3 |
9 |
p24.1 |
6 |
0 |
0 |
N/A |
- |
AK4 |
adenylate kinase 4 |
1 |
p31.3 |
3 |
0 |
0 |
N/A |
- |
AKAP1 |
A kinase (PRKA) anchor protein 1 |
17 |
q22 |
3 |
0 |
0 |
N/A |
- |
AKAP10 |
A kinase (PRKA) anchor protein 10 |
17 |
p11.1 |
1 |
0 |
0 |
N/A |
- |
AKR1B10 |
aldo-keto reductase family 1, member B10 (aldose reductase) |
7 |
q33 |
4 |
0 |
0 |
N/A |
- |
AKR1D1 |
aldo-keto reductase family 1, member D1 |
7 |
q32-q33 |
3 |
0 |
0 |
N/A |
- |
AKR7A2 |
aldo-keto reductase family 7, member A2 (aflatoxin aldehyde reductase) |
1 |
p36.13 |
1 |
0 |
0 |
N/A |
- |
AKT2 |
v-akt murine thymoma viral oncogene homolog 2 |
19 |
q13.1-q13.2 |
1 |
7 |
6 |
2013-11-26 |
NIDDM |
ALAS1 |
aminolevulinate, delta-, synthase 1 |
3 |
p21 |
2 |
0 |
0 |
N/A |
- |
ALAS2 |
aminolevulinate, delta-, synthase 2 |
X |
p11.21 |
3 |
0 |
0 |
N/A |
- |
ALDH18A1 |
aldehyde dehydrogenase 18 family, member A1 |
10 |
q24.3-q24.6 |
4 |
0 |
0 |
N/A |
- |
ALDH1B1 |
aldehyde dehydrogenase 1 family, member B1 |
9 |
p13 |
1 |
0 |
0 |
N/A |
- |
ALDH1L1 |
aldehyde dehydrogenase 1 family, member L1 |
3 |
q21.2 |
4 |
0 |
0 |
N/A |
- |
ALDH1L2 |
aldehyde dehydrogenase 1 family, member L2 |
12 |
q23.3 |
2 |
0 |
0 |
N/A |
- |
ALDH2 |
aldehyde dehydrogenase 2 family (mitochondrial) |
12 |
q24.12 |
2 |
4 |
2 |
N/A |
610251 |
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