All genes

105 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
ABCC8 ATP binding cassette subfamily C member 8 11 p15.1 1 3 3 2023-06-16 HHF1, LIH, PNDM3, T2D, TNDM2
ABCC9 ATP binding cassette subfamily C member 9 12 p12.1 1 1 1 2023-10-02 CMD1O
ADA2 adenosine deaminase 2 22 q11.1 1 4 4 2023-06-28 SNDNS, VAIHS
AEBP1 AE binding protein 1 7 p13 1 1 1 2024-01-22 EDSCL2
AIP aryl hydrocarbon receptor interacting protein 11 q13.2 1 7 7 2023-06-27 PITA1
APC APC regulator of WNT signaling pathway 5 q22.2 1 3 3 2023-09-18 DESMD, FAP1, GAPPS
APOB apolipoprotein B 2 p24.1 1 5 5 2023-06-27 FHBL1, FHCL2
APPL1 adaptor protein, phosphotyrosine interacting with PH domain and leucine zipper 1 3 p14.3 1 4 4 2023-10-26 MODY14
ATM ATM serine/threonine kinase 11 q22.3 1 15 13 2023-06-27 AT, BREAST CANCER
ATP7B ATPase copper transporting beta 13 q14.3 1 17 17 2023-09-19 WD
ATXN3 ataxin 3 14 q21 1 - - N/A MJD
BAP1 BRCA1 associated protein 1 3 p21.1 1 1 1 2020-03-03 KURIS, TPDS, UVM2
BARD1 BRCA1 associated RING domain 1 2 q35 1 1 1 2023-06-27 BREAST CANCER
BLK BLK proto-oncogene, Src family tyrosine kinase 8 p23.1 1 1 1 2020-03-03 MODY 11
BRAF B-Raf proto-oncogene, serine/threonine kinase 7 q34 1 1 1 2023-06-27 CFC1, LPRD3, NS7
BRCA1 BRCA1, DNA repair associated 17 q21.31 1 26 24 2024-01-19 BROVCA1, FANCS, PNCA4
BRCA2 BRCA2, DNA repair associated 13 q13.1 1 40 40 2023-10-25 BREAST CANCER, BROVCA2, FANCD1, GLM3, MDB, PCNA2, PROSTATE CANCER, WT1
BRIP1 BRCA1 interacting protein C-terminal helicase 1 17 q23.2 1 10 10 2023-06-27 BREAST CANCER, FANCJ
CDH1 cadherin 1 16 q22.1 1 10 10 2023-06-28 BCDS1, BREAST CANCER, DGLBC, PROSTATE CANCER
CDK4 cyclin dependent kinase 4 12 q14.1 1 1 1 2023-06-28 CMM3
CDKN2A cyclin dependent kinase inhibitor 2A 9 p21.3 2 1 1 2023-06-28 CMM2, MELANOMA-ASTROCYTOMA, MELANOMA-PANCREATIC
CEL carboxyl ester lipase 9 q34.13 1 1 1 2020-10-08 MODY8
CFTR cystic fibrosis transmembrane conductance regulator 7 q31.2 1 7 7 2024-01-11 BESC1, CBAVD, CF, PCTT
CHEK2 checkpoint kinase 2 22 q12.1 1 16 14 2023-12-14 BREAST CANCER, CRC, LFS2, PROSTATE CANCER
COL3A1 collagen type III alpha 1 chain 2 q32.2 1 1 1 2023-06-29 EDSVASC
COL5A2 collagen type V alpha 2 chain 2 q32.2 1 1 1 2022-06-29 EDSCL2
CPA1 carboxypeptidase A1 7 q32.2 1 2 2 2023-06-29 -
CYP21A2 cytochrome P450 family 21 subfamily A member 2 6 p21.3 1 - - N/A CAH1
DES desmin 2 q35 1 1 1 2023-06-29 CMD1I
DIS3L2 DIS3 like 3'-5' exoribonuclease 2 2 q37.1 1 1 1 2023-06-29 PRLMNS
DSG2 desmoglein 2 18 q12.1 1 2 2 2023-06-29 ARVD11
ERCC3 ERCC excision repair 3, TFIIH core complex helicase subunit 2 q14.3 1 2 2 2017-05-15 TTD2, XPB
EYA4 EYA transcriptional coactivator and phosphatase 4 6 q23.2 1 1 1 2023-06-29 CMD1J
FANCA FA complementation group A 16 q24.3 1 1 1 2020-03-03 FANCA
FANCM FA complementation group M 14 q21.2 1 1 1 2018-12-07 POF15
FBN1 fibrillin 1 15 q21.1 1 7 7 2023-10-02 ACMICD, ECTOL1, GPHYSD2, MASSS, MFLS, MFS1, SSKS, WMS2
FGFR3 fibroblast growth factor receptor 3 4 p16.3 1 - - N/A ACH, HCH
FH fumarate hydratase 1 q43 1 1 1 2024-01-05 HLRCC
GCK glucokinase 7 p15.3-p15.1 1 10 10 2023-06-30 HHF3, MODY2, PNDM1, T2D
GJB2 gap junction protein beta 2 13 q11-q12 1 - - N/A DFNB1A
GLA galactosidase alpha X q21.3-q22 1 - - N/A FD
HBA1 hemoglobin subunit alpha 1 16 p13.3 1 - - 2016-07-11 a-THAL
HBA2 hemoglobin subunit alpha 2 16 p13.3 1 1 1 2017-05-24 a-THAL
HBB hemoglobin subunit beta 11 p15.5 1 - - N/A b-THAL
HNF1A HNF1 homeobox A 12 q24.31 1 6 6 2023-06-16 MODY3, RCC, T1D, T1D20, T2D
HNF1B HNF1 homeobox B 17 q12 1 1 1 2019-05-21 MODY5, RCC
HNF4A hepatocyte nuclear factor 4 alpha 20 q13.12 1 2 2 2019-05-21 FRTS4, MODY1, T2D
IL36RN interleukin 36 receptor antagonist 2 q14.1 1 2 2 2023-06-29 PSORS14
INS insulin 11 p15.5 1 1 1 2023-06-29 MODY10, WTSN, XPB, YAOS
KCNE1 potassium voltage-gated channel subfamily E regulatory subunit 1 21 q22.12 1 1 1 2023-06-29 LQT5
KCNH2 potassium voltage-gated channel subfamily H member 2 7 q36.1 1 2 2 2023-06-30 -
KCNJ5 potassium inwardly rectifying channel subfamily J member 5 11 q24.3 1 1 1 2023-06-30 LQT13
KCNQ1 potassium voltage-gated channel subfamily Q member 1 11 p15.5-p15.4 1 1 1 2023-06-27 JLNS1, LQT1, SHORT QT SYNDROME
KIF1B kinesin family member 1B 1 p36.22 1 1 1 2023-07-17 CMT2A1, NBLST1
KIT KIT proto-oncogene, receptor tyrosine kinase 4 q12 1 1 1 2023-07-17 GIST, MASTC, PBT
KLF11 KLF transcription factor 11 2 p25.1 1 4 4 2023-10-02 MODY7
KRAS KRAS proto-oncogene, GTPase 12 p12.1 2 2 1 2020-10-08 NS3
LDLR low density lipoprotein receptor 19 p13.2 1 3 3 2024-01-04 FHCL1
LPIN2 lipin 2 18 p11.31 1 4 4 2023-07-17 MJDS
MECP2 methyl-CpG binding protein 2 X q28 1 - - N/A RTT
MEFV Mediterranean fever 16 p13.3 1 - - N/A AFND, FMF, FMFAD
MET MET proto-oncogene, receptor tyrosine kinase 7 q31 1 7 7 2023-10-02 HPRCC
MLH1 mutL homolog 1 3 p22.3 1 24 24 2023-12-01 LYNCH2, MMRCS1, MRTES
MSH2 mutS homolog 2 2 p21 1 8 7 2023-07-17 LYNCH1, MMRCS2, MRTES
MSH6 mutS homolog 6 2 p16 1 12 11 2023-07-17 ENDOMETRIAL CANCER, LYNCH5, MMRCS3
MUTYH mutY DNA glycosylase 1 p34.1 1 3 3 2023-07-17 FAP2
MYBPC3 myosin binding protein C3 11 p11.2 1 1 1 2023-06-27 CMH4, LVNC10
NBN nibrin 8 q21.3 1 5 5 2023-07-17 NBS
NEUROD1 neuronal differentiation 1 2 q31.3 1 2 2 2023-10-02 MODY6, T2D
NF1 neurofibromin 1 17 q11.2 2 24 22 2023-11-24 FSNF, JMML, NF1, NFNS, WTSN
NLRC4 NLR family CARD domain containing 4 2 p22.3 1 1 1 2023-07-17 AIFEC, FCAS4
NLRP12 NLR family pyrin domain containing 12 19 q13.42 1 10 10 2023-10-02 FCAS2
NLRP3 NLR family pyrin domain containing 3 1 q44 1 1 1 2023-06-16 CINCA, DFNA34, FCAS1, KEFH, MWS, YAOS
NOD2 nucleotide binding oligomerization domain containing 2 16 q12.1 1 7 7 2023-10-02 BLAUS, IBD1, YAOS
NTHL1 nth like DNA glycosylase 1 16 p13.3 1 1 1 2023-07-17 -
PALB2 partner and localizer of BRCA2 16 p12.2 1 7 7 2023-07-18 BREAST CANCER, FANCN, PNCA3
PAX4 paired box 4 7 q32.1 1 4 4 2023-07-18 KPD, MODY 9, T2D
PDGFRA platelet derived growth factor receptor alpha 4 q12 1 3 3 2023-10-02 GISTPS
PDX1 pancreatic and duodenal homeobox 1 13 q12.2 1 4 4 2023-10-02 MODY4
PMS2 PMS1 homolog 2, mismatch repair system component 7 p22.1 1 7 7 2023-10-02 LYNCH4, MMRCS4
POLD1 DNA polymerase delta 1, catalytic subunit 19 q13.3 1 1 1 2023-06-27 CRCS10, MDPL
PROC protein C, inactivator of coagulation factors Va and VIIIa 2 q13-q14 1 2 2 2023-06-27 THPH3, THPH4
PROS1 protein S (alpha) 3 q11.1 1 5 5 2023-06-27 THPH5, THPH6
PRSS1 protease, serine 1 7 q34 1 - - 2016-07-11 PCTT
PSMB8 proteasome 20S subunit beta 8 6 p21.32 1 3 3 2023-10-02 -
PSTPIP1 proline-serine-threonine phosphatase interacting protein 1 15 q24.3 1 2 2 2023-06-28 PAPAS
PTCH1 patched 1 9 q22.32 1 4 4 2023-07-18 BCNS1, HPE7
PTEN phosphatase and tensin homolog 10 q23.31 1 6 6 2023-09-14 CWS1
PTPN11 protein tyrosine phosphatase, non-receptor type 11 12 q24.1 1 8 7 2023-07-18 LPRD1, METCDS, NS1
RAD51C RAD51 paralog C 17 q25.1 1 5 5 2023-07-18 BROVCA3, FANCO
RAD51D RAD51 paralog D 17 q11 1 1 1 2023-07-18 BROVCA4
RBM20 RNA binding motif protein 20 10 q25.2 1 2 1 2024-01-15 CMD1DD
RIT1 Ras like without CAAX 1 1 q22 1 2 2 2023-07-18 NS8
SBDS SBDS ribosome maturation factor 7 q11.21 1 2 2 2023-07-18 SDS1
SDHB succinate dehydrogenase complex iron sulfur subunit B 1 p36.13 1 2 2 2023-10-02 GIST, MC2DN4, PCZ, PGL4, PGSS
SHOX short stature homeobox X p22.33 and Yp11.32 1 - - N/A ISS, LMD, LWD
SMAD3 SMAD family member 3 15 q22.33 1 1 1 2023-06-27 LDS3
SMAD4 SMAD family member 4 18 q21.2 1 3 3 2023-10-02 JPHT, JPS, MYHRS
SPINK1 serine peptidase inhibitor, Kazal type 1 5 q32 1 1 1 2023-06-27 PCTT, TCP
STK11 serine/threonine kinase 11 19 p13.3 1 1 1 2019-02-21 PJS
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