All genes

191 entries on 2 pages. Showing entries 1 - 100.
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AscendingSymbol     

Gene     

Chr     

Band

Transcripts     

Variants     

Unique variants     

Last updated     

Associated with diseases
ABCA1 ATP binding cassette subfamily A member 1 9 q31.1 1 9 3 2021-03-29 T2DM
ABCA12 ATP binding cassette subfamily A member 12 2 q35 4 0 0 N/A ARCI
ABCB1 ATP binding cassette subfamily B member 1 7 q21.12 1 3 3 2017-11-22 ABCB1
ABCD1 ATP binding cassette subfamily D member 1 X q28 2 0 0 N/A ALD
ABCG8 ATP binding cassette subfamily G member 8 2 p21 2 0 0 N/A FH
ABL1 ABL proto-oncogene 1, non-receptor tyrosine kinase 9 q34.12 1 0 0 N/A CML
ACE angiotensin I converting enzyme 17 q23.3 4 0 0 N/A Obesity
ADRA2A adrenoceptor alpha 2A 10 q25.2 1 0 0 N/A ACE
ADRB2 adrenoceptor beta 2 5 q32 1 11 2 2021-01-14 EH
ADSL adenylosuccinate lyase 22 q13.1 3 0 0 N/A ADSLD
AGER advanced glycosylation end-product specific receptor 6 p21.32 1 20 6 2021-01-14 CKD
AGL amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase 1 p21.2 1 12 9 2020-12-14 GSD III
AGT angiotensinogen 1 q42.2 1 14 1 2021-01-14 EH
AKT1 AKT serine/threonine kinase 1 14 q32.33 4 0 0 N/A COMT
ALOX12B arachidonate 12-lipoxygenase, 12R type 17 p13.1 1 0 0 N/A ARCI
AMT aminomethyltransferase 3 p21.31 1 0 0 N/A GCE
APC APC, WNT signaling pathway regulator 5 q22.2 2 27 24 2020-12-14 APC
APOB apolipoprotein B 2 p24.1 1 34 33 2020-12-14 FH
ARSA arylsulfatase A 22 q13.33 9 0 0 N/A MLD
ASL argininosuccinate lyase 7 q11.21 1 10 8 2020-12-14 ASLD
ATG16L1 autophagy related 16 like 1 2 q37.1 1 17 3 2020-12-22 CD
ATM ATM serine/threonine kinase 11 q22.3 1 0 0 N/A CRC
BCKDHA branched chain keto acid dehydrogenase E1 subunit alpha 19 q13.2 1 4 4 2020-12-14 MSUD
BCKDHB branched chain keto acid dehydrogenase E1 subunit beta 6 q14.1 1 16 12 2020-12-14 MSUD
BRAF B-Raf proto-oncogene, serine/threonine kinase 7 q34 1 2 1 2020-12-14 CRC
BRCA1 BRCA1, DNA repair associated 17 q21.31 1 140 85 2021-03-29 BRCA1
BRCA2 BRCA2, DNA repair associated 13 q13.1 1 110 93 2021-03-29 BRCA2
BTD biotinidase 3 p25.1 1 5 5 2020-12-14 BD
BTK Bruton tyrosine kinase X q22.1 3 0 0 N/A XLA
CARTPT CART prepropeptide 5 q13.2 1 0 0 N/A Obesity
CCL2 C-C motif chemokine ligand 2 17 q12 1 0 0 N/A Breast cancer
CFTR cystic fibrosis transmembrane conductance regulator 7 q31.2 1 1 1 2017-11-22 CFTR
CHEK2 checkpoint kinase 2 22 q12.1 1 7 4 2020-12-14 Breast cancer
CNDP1 carnosine dipeptidase 1 18 q22.3 1 0 0 N/A -
COL1A1 collagen type I alpha 1 chain 17 q21.33 1 12 12 2020-12-14 OI
COL1A2 collagen type I alpha 2 chain 7 q21.3 1 4 4 2020-12-14 OI
COMT catechol-O-methyltransferase 22 q11.21 1 5 3 2021-04-18 -
CPS1 carbamoyl-phosphate synthase 1 2 q34 2 10 8 2020-12-14 CPS1D
CTLA4 cytotoxic T-lymphocyte associated protein 4 2 q33.2 1 0 0 N/A LF, SLE
CXCL16 C-X-C motif chemokine ligand 16 17 p13.2 1 6 1 2020-12-22 CD
CYP11B2 cytochrome P450 family 11 subfamily B member 2 8 q24.3 1 0 0 N/A Coronary Heart Disease
CYP21A2 cytochrome P450 family 21 subfamily A member 2 6 p21.33 4 0 0 N/A CAH
CYP2D6 cytochrome P450 family 2 subfamily D member 6 22 q13.2 1 6 6 2020-12-13 Breast cancer, pharmacogenetics
DBT dihydrolipoamide branched chain transacylase E2 1 p21.2 1 6 4 2020-12-14 MSUD
DISC1 DISC1 scaffold protein 1 q42.2 1 18 9 2021-02-11 Schizophrenia disease
DLG5 discs large MAGUK scaffold protein 5 10 q22.3 15 0 0 N/A CD
DMD dystrophin X p21.2-p21.1 30 0 0 N/A -
DMP1 dentin matrix acidic phosphoprotein 1 4 q22.1 1 3 3 2020-12-27 HR
DPP4 dipeptidyl peptidase 4 2 q24.2 1 24 8 2021-01-04 T2DM
DRD1 dopamine receptor D1 5 q35.2 1 2 2 2021-03-29 PD
DRD2 dopamine receptor D2 11 q23.2 3 3 3 2021-03-29 -
DRD3 dopamine receptor D3 3 q13.31 5 2 2 2021-03-29 -
DRD4 dopamine receptor D4 11 p15.5 1 1 1 2021-03-29 -
DRD5 dopamine receptor D5 4 p16.1 1 1 1 2021-03-29 -
DUOX2 dual oxidase 2 15 q21.1 2 0 0 N/A PDS
DUSP6 dual specificity phosphatase 6 12 q21.33 2 0 0 N/A Class III Malocclusion
DYSF dysferlin 2 p13.2 14 0 0 N/A LGMD2B
EGFR epidermal growth factor receptor 7 p11.2 1 2 2 2020-12-14 HGSOC
EPM2A EPM2A glucan phosphatase, laforin 6 q24.3 12 0 0 N/A LD
ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit 19 q13.32 6 0 0 N/A Breast cancer
F8 coagulation factor VIII X q28 1 45 43 2020-12-14 F8
F9 coagulation factor IX X q27.1 1 28 20 2020-12-14 F9
FAS Fas cell surface death receptor 10 q23.31 18 0 0 N/A CC
FGF23 fibroblast growth factor 23 12 p13.32 1 1 1 2020-12-27 HR
FGFR3 fibroblast growth factor receptor 3 4 p16.3 1 1 1 2020-12-06 HGSOC
FTO FTO alpha-ketoglutarate dependent dioxygenase 16 q12.2 1 30 30 2020-12-27 MetS, Obesity
FZD4 frizzled class receptor 4 11 q14.2 1 1 1 2021-04-18 ROP
G6PC1 glucose-6-phosphatase catalytic subunit 1 17 q21.31 2 0 0 2021-04-18 -
G6PD glucose-6-phosphate dehydrogenase X q28 3 67 15 2021-04-12 G6PD
GAA alpha glucosidase 17 q25.3 6 0 0 2021-03-16 Pompe's Disease
GALNS galactosamine (N-acetyl)-6-sulfatase 16 q24.3 1 18 18 2020-12-14 MPS IVA
GATA1 GATA binding protein 1 X p11.23 1 13 13 2020-12-14 DS
GBA glucosylceramidase beta 1 q22 1 10 10 2020-12-14 PD
GCDH glutaryl-CoA dehydrogenase 19 p13.13 1 11 10 2020-12-14 GA1
GCKR glucokinase regulator 2 p23.3 5 0 0 N/A GDM
GJB1 gap junction protein beta 1 X q13.1 1 0 0 N/A CMT
GJB2 gap junction protein beta 2 13 q12.11 1 23 10 2020-12-22 NSHL, PDS
GJB6 gap junction protein beta 6 13 q12.11 1 2 2 2020-12-14 NSHL
GLA galactosidase alpha X q22.1 2 0 0 N/A FD
GLDC glycine decarboxylase 9 p24.1 1 0 0 N/A GCE
GRIN2B glutamate ionotropic receptor NMDA type subunit 2B 12 p13.1 5 1 1 2021-03-29 PD
HBA1 hemoglobin subunit alpha 1 16 p13.3 1 5 4 2020-12-06 α-thalassaemia
HBA2 hemoglobin subunit alpha 2 16 p13.3 1 11 3 2020-12-06 α-thalassaemia
HBB hemoglobin subunit beta 11 p15.4 1 326 62 2021-01-04 HBB
HLA-A major histocompatibility complex, class I, A 6 p22.1 1 0 0 N/A NPC, NPCA
HRAS HRas proto-oncogene, GTPase 11 p15.5 1 2 2 2020-12-06 OSCC
HTR2A 5-hydroxytryptamine receptor 2A 13 q14.2 1 0 0 N/A BPD
IDH1 isocitrate dehydrogenase (NADP(+)) 1 2 q34 1 0 0 N/A Gliomas
IL10 interleukin 10 1 q32.1 1 12 3 2021-01-14 RA
IL13 interleukin 13 5 q31.1 1 2 1 2021-01-14 Asthma
IL16 interleukin 16 15 q25.1 7 0 0 N/A Breast cancer
IL23R interleukin 23 receptor 1 p31.3 5 0 0 N/A CD
IL6 interleukin 6 7 p15.3 1 2 1 2021-01-14 SLE
INS insulin 11 p15.5 4 0 0 N/A PNDM4
INSIG2 insulin induced gene 2 2 q14.1-q14.2 6 0 0 N/A Obesity
IRGM immunity related GTPase M 5 q33.1 1 15 3 2020-12-22 CD
ITGA9 integrin subunit alpha 9 3 p22.2 1 0 0 N/A NPC, NPCA
KCNQ1 potassium voltage-gated channel subfamily Q member 1 11 p15.5-p15.4 1 12 3 2021-01-04 T2DM
KDR kinase insert domain receptor 4 q12 1 2 1 2020-12-06 HGSOC
KIT KIT proto-oncogene, receptor tyrosine kinase 4 q12 1 1 1 2020-12-06 HGSOC
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