All genes

308 entries on 4 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 2021-09-05 T2DM
ABCA12 ATP binding cassette subfamily A member 12 2 q35 4 4 4 2021-09-08 ARCI
ABCA5 ATP binding cassette subfamily A member 5 17 q24.3 2 0 0 N/A -
ABCB1 ATP binding cassette subfamily B member 1 7 q21.12 5 7 7 2021-09-08 ABCB1
ABCC2 ATP binding cassette subfamily C member 2 10 q24.2 3 0 0 N/A CPS
ABCD1 ATP binding cassette subfamily D member 1 X q28 2 4 4 2021-08-01 ALD
ABCG8 ATP binding cassette subfamily G member 8 2 p21 2 1 1 2021-08-01 FH
ABL1 ABL proto-oncogene 1, non-receptor tyrosine kinase 9 q34.12 1 15 12 2021-09-09 CML
ACE angiotensin I converting enzyme 17 q23.3 4 1 1 2021-08-01 Obesity
ADAM28 ADAM metallopeptidase domain 28 8 p21.2 3 2 1 2021-08-01 PID
ADRA2A adrenoceptor alpha 2A 10 q25.2 1 3 1 2021-08-01 ACE
ADRB2 adrenoceptor beta 2 5 q32 1 11 2 2021-09-02 EH
ADSL adenylosuccinate lyase 22 q13.1 3 1 1 2021-08-01 ADSLD
AGER advanced glycosylation end-product specific receptor 6 p21.32 1 26 6 2021-09-08 CKD
AGL amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase 1 p21.2 1 12 9 2021-09-08 GSD III
AGT angiotensinogen 1 q42.2 1 14 1 2021-09-01 EH
AHNAK2 AHNAK nucleoprotein 2 14 q32.33 2 2 2 2021-09-09 CMT
AKT1 AKT serine/threonine kinase 1 14 q32.33 4 6 6 2021-08-01 COMT
ALDH5A1 aldehyde dehydrogenase 5 family member A1 6 p22.3 3 3 3 2021-08-01 SSADHD
ALOX12B arachidonate 12-lipoxygenase, 12R type 17 p13.1 1 1 1 2021-08-01 ARCI
AMT aminomethyltransferase 3 p21.31 1 7 5 2021-09-05 GCE
ANKDD1B ankyrin repeat and death domain containing 1B 5 q13.3 1 0 0 N/A CRC
APC APC, WNT signaling pathway regulator 5 q22.2 2 36 30 2021-09-08 APC
APOB apolipoprotein B 2 p24.1 1 44 39 2021-08-25 FH
ARSA arylsulfatase A 22 q13.33 9 2 2 2021-08-01 MLD
ARVCF ARVCF delta catenin family member 22 q11.21 1 0 0 N/A -
ASL argininosuccinate lyase 7 q11.21 1 10 8 2021-09-08 ASLD
ATG16L1 autophagy related 16 like 1 2 q37.1 1 17 3 2021-08-30 CD
ATM ATM serine/threonine kinase 11 q22.3 1 0 0 N/A CRC
ATRX ATRX chromatin remodeler X q21.1 2 2 1 2021-08-01 ATRX
BCKDHA branched chain keto acid dehydrogenase E1 subunit alpha 19 q13.2 1 5 4 2021-09-12 MSUD
BCKDHB branched chain keto acid dehydrogenase E1 subunit beta 6 q14.1 1 16 12 2021-09-08 MSUD
BRAF B-Raf proto-oncogene, serine/threonine kinase 7 q34 1 3 1 2021-08-30 CRC, Brain Tumor
BRCA1 BRCA1, DNA repair associated 17 q21.31 1 289 133 2022-10-04 BRCA1
BRCA2 BRCA2, DNA repair associated 13 q13.1 1 268 170 2021-09-09 BRCA2
BTD biotinidase 3 p25.1 1 5 5 2021-09-08 BD
BTK Bruton tyrosine kinase X q22.1 3 10 10 2022-01-25 XLA
CARTPT CART prepropeptide 5 q13.2 1 1 1 2021-08-01 Obesity
CCDC144NL CCDC144A N-terminal pseudogene 17 p11.2 1 0 0 N/A CRC
CCL2 C-C motif chemokine ligand 2 17 q12 1 0 0 N/A Breast cancer
CD19 CD19 molecule 16 p11.2 3 4 3 2022-01-25 CVID3, PID
CD27 CD27 molecule 12 p13.31 1 2 1 2021-08-01 PID
CD86 CD86 molecule 3 q13.33 5 2 1 2021-08-01 PID
CDK11B cyclin dependent kinase 11B 1 p36.33 1 0 0 N/A CRC
CENPM centromere protein M 22 q13.2 1 0 0 N/A CRC
CFTR cystic fibrosis transmembrane conductance regulator 7 q31.2 1 1 1 2021-09-08 CFTR
CHAT choline O-acetyltransferase 10 q11.23 7 4 2 2021-08-01 CMS
CHD7 chromodomain helicase DNA binding protein 7 8 q12.2 2 1 1 2021-07-25 CHARGE
CHEK2 checkpoint kinase 2 22 q12.1 1 7 4 2021-08-23 Breast cancer
CHRD chordin 3 q27.1 4 0 0 N/A -
CLDN5 claudin 5 22 q11.21 1 0 0 N/A CRC
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 2021-09-12 OI
COL1A2 collagen type I alpha 2 chain 7 q21.3 1 4 4 2021-09-13 OI
COL22A1 collagen type XXII alpha 1 chain 8 q24.23-q24.3 1 0 0 N/A -
COL7A1 collagen type VII alpha 1 chain 3 p21.31 1 1 1 2021-09-08 DEBP
COMT catechol-O-methyltransferase 22 q11.21 1 5 3 2021-09-12 -
CPS1 carbamoyl-phosphate synthase 1 2 q34 2 10 8 2021-09-08 CPS1D
CR1 complement C3b/C4b receptor 1 (Knops blood group) 1 q32.2 1 1 1 2021-08-01 -
CR2 complement C3d receptor 2 1 q32.2 2 4 2 2021-08-01 PID
CRNN cornulin 1 q21.3 1 18 6 2021-09-08 OSCC
CSMD3 CUB and Sushi multiple domains 3 8 q23.3 4 0 0 N/A -
CTLA4 cytotoxic T-lymphocyte associated protein 4 2 q33.2 1 16 9 2021-09-02 LF, PID, SLE
CXCL16 C-X-C motif chemokine ligand 16 17 p13.2 1 6 1 2021-08-30 CD
CYBB cytochrome b-245 beta chain X p21.1-p11.4 1 2 2 2022-01-25 X-CGD
CYP11B2 cytochrome P450 family 11 subfamily B member 2 8 q24.3 1 1 1 2021-08-01 Coronary Heart Disease
CYP21A2 cytochrome P450 family 21 subfamily A member 2 6 p21.33 4 5 5 2021-08-01 CAH
CYP2A6 cytochrome P450 family 2 subfamily A member 6 19 q13.2 1 0 0 N/A Brain Tumor
CYP2B6 cytochrome P450 family 2 subfamily B member 6 19 q13.2 1 0 0 N/A -
CYP2C9 cytochrome P450 family 2 subfamily C member 9 10 q23.33 1 0 0 N/A -
CYP2D6 cytochrome P450 family 2 subfamily D member 6 22 q13.2 1 17 7 2021-09-12 Breast cancer, pharmacogenetics
CYP4V2 cytochrome P450 family 4 subfamily V member 2 4 q35.1-q35.2 1 0 0 N/A -
DBT dihydrolipoamide branched chain transacylase E2 1 p21.2 1 6 4 2021-08-23 MSUD
DISC1 DISC1 scaffold protein 1 q42.2 1 36 9 2021-09-08 Schizophrenia disease
DKC1 dyskerin pseudouridine synthase 1 X q28 3 2 1 2021-08-01 DKC
DLG5 discs large MAGUK scaffold protein 5 10 q22.3 15 1 1 2021-09-09 CD
DMD dystrophin X p21.2-p21.1 17 10 10 2021-09-13 -
DMP1 dentin matrix acidic phosphoprotein 1 4 q22.1 1 3 3 2021-08-29 HR
DPP4 dipeptidyl peptidase 4 2 q24.2 1 24 8 2021-09-01 T2DM
DPYD dihydropyrimidine dehydrogenase 1 p21.3 2 2 1 2021-08-01 DPD
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 4 3 2021-08-01 PDS
DUSP6 dual specificity phosphatase 6 12 q21.33 2 1 1 2021-08-01 Class III Malocclusion
DYSF dysferlin 2 p13.2 14 6 6 2021-08-01 LGMD2B
EGFR epidermal growth factor receptor 7 p11.2 1 2 2 2021-09-08 HGSOC
EPM2A EPM2A glucan phosphatase, laforin 6 q24.3 12 1 1 2021-08-01 LD
ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit 19 q13.32 6 0 0 N/A Breast cancer
EVPL envoplakin 17 q25.1 2 0 0 N/A -
F2 coagulation factor II, thrombin 11 p11.2 1 1 1 2021-08-01 PEE1
F8 coagulation factor VIII X q28 1 45 43 2021-09-13 F8
F9 coagulation factor IX X q27.1 1 28 20 2021-09-13 F9
FANCA FA complementation group A 16 q24.3 4 12 6 2021-08-01 PID
FAS Fas cell surface death receptor 10 q23.31 18 1 1 2021-08-01 CC
FBP1 fructose-bisphosphatase 1 9 q22.32 2 8 7 2021-09-08 FBP1D
FGF23 fibroblast growth factor 23 12 p13.32 1 1 1 2021-08-29 HR
FGFR3 fibroblast growth factor receptor 3 4 p16.3 1 1 1 2020-12-06 HGSOC
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