All genes

99 entries on 1 page. Showing entries 1 - 99.

AscendingSymbol     

Gene     

Chr     

Band

Transcripts     

Variants     

Unique variants     

Last updated     

Associated with diseases
AIP aryl hydrocarbon receptor interacting protein 11 q13.2 1 99 33 2020-05-20 PitAP
ALK ALK receptor tyrosine kinase 2 p23.2-p23.1 1 283 123 2020-05-20 NBLST3
APC APC regulator of WNT signaling pathway 5 q22.2 3 355 121 2020-06-26 FAP1
ATM ATM serine/threonine kinase 11 q22.3 1 688 237 2020-07-29 AT, BrCa
BAP1 BRCA1 associated protein 1 3 p21.1 1 226 76 2020-06-29 TPDS
BARD1 BRCA1 associated RING domain 1 2 q35 1 7 4 2020-05-20 -
BLM BLM RecQ like helicase 15 q26.1 1 271 108 2020-06-26 BLM
BMPR1A bone morphogenetic protein receptor type 1A 10 q23.2 1 93 46 2020-05-20 JPS
BRCA1 BRCA1 DNA repair associated 17 q21.31 5 527 170 2020-08-03 BrCa, BROVCA1, FANCS, PNCA4
BRCA2 BRCA2 DNA repair associated 13 q13.1 1 665 239 2020-08-03 BrCa, BROVCA2, FANCD1, GLM3, MDB, PNCA2, PrCa, WT1
BRIP1 BRCA1 interacting protein C-terminal helicase 1 17 q23.2 1 191 81 2020-05-20 BrCa, FANCJ
BUB1B BUB1 mitotic checkpoint serine/threonine kinase B 15 q15.1 1 185 69 2020-06-29 MVA1, PCS
CDC73 cell division cycle 73 1 q31.2 1 73 42 2020-05-20 HRPT1, HRPT2, PRTC
CDH1 cadherin 1 16 q22.1 1 259 64 2020-05-20 BCDS1, BrCa, CDH1, PrCa
CDK4 cyclin dependent kinase 4 12 q14.1 1 49 22 2020-05-20 CMM3
CDKN1C cyclin dependent kinase inhibitor 1C 11 p15.4 3 50 25 2020-05-20 BWS, IMAGE
CDKN2A cyclin dependent kinase inhibitor 2A 9 p21.3 4 49 27 2020-05-20 CMM2, MAS, MPCS
CEBPA CCAAT enhancer binding protein alpha 19 q13.11 1 38 16 2020-05-20 AML
CEP57 centrosomal protein 57 11 q21 3 109 41 2020-06-05 MVA2
CHEK2 checkpoint kinase 2 22 q12.1 4 299 80 2020-07-29 BrCa, PrCa
CYLD CYLD lysine 63 deubiquitinase 16 q12.1 3 93 41 2020-05-20 BRSS, FCyl, MFT1
DDB2 damage specific DNA binding protein 2 11 p11.2 1 77 31 2020-05-20 XPE
DICER1 dicer 1, ribonuclease III 14 q32.13 4 186 94 2020-05-20 MNG1, PPB, RMSE2
DIS3L2 DIS3 like 3'-5' exoribonuclease 2 2 q37.1 3 352 105 2020-05-20 PRLMNS
EGFR epidermal growth factor receptor 7 p11.2 4 285 85 2020-05-20 LuCa, NISBD2
EPCAM epithelial cell adhesion molecule 2 p21 1 120 48 2020-05-20 DIAR5, HNPCC8
ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit 19 q13.32 2 212 127 2020-06-29 COFS2, XPD
ERCC3 ERCC excision repair 3, TFIIH core complex helicase subunit 2 q14.3 1 203 72 2020-06-26 TTD2, XPB
ERCC4 ERCC excision repair 4, endonuclease catalytic subunit 16 p13.12 1 174 61 2020-05-20 FANCQ, XFEPS, XPF
ERCC5 ERCC excision repair 5, endonuclease 13 q33.1 1 242 89 2020-06-29 COFS3, XPG
EXT1 exostosin glycosyltransferase 1 8 q24.11 1 56 30 2020-05-20 ChonSar, EXT1
EXT2 exostosin glycosyltransferase 2 11 p11.2 3 111 55 2020-06-29 EXT2, SSMS
EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit 7 q36.1 5 112 61 2020-05-20 WVS
FANCA FA complementation group A 16 q24.3 2 594 218 2020-06-29 FANCA
FANCB FA complementation group B X p22.2 2 76 30 2020-05-20 FANCB
FANCC FA complementation group C 9 q22.32 3 143 48 2020-05-20 FANCC
FANCD2 FA complementation group D2 3 p25.3 2 443 143 2020-06-29 FANCD2
FANCE FA complementation group E 6 p21.31 1 155 51 2020-06-29 FANCE
FANCF FA complementation group F 11 p14.3 1 81 23 2020-05-20 FANCF
FANCG FA complementation group G 9 p13.3 1 74 39 2020-05-20 FANCG
FANCI FA complementation group I 15 q26.1 2 375 131 2020-06-26 FANCI
FANCL FA complementation group L 2 p16.1 2 113 42 2020-05-20 FANCL
FANCM FA complementation group M 14 q21.2 1 269 120 2020-06-17 POF15, SPGF28
FH fumarate hydratase 1 q43 1 73 45 2020-05-20 FMRD, HLRCC
FLCN folliculin 17 p11.2 2 172 55 2020-05-20 BHD, PSP
GATA2 GATA binding protein 2 3 q21.3 3 37 27 2020-05-20 AML, EmbS, IMD21
GPC3 glypican 3 X q26.2 4 73 23 2020-05-20 SGBS1
HNF1A HNF1 homeobox A 12 q24.31 1 168 60 2020-05-20 IDDM, MODY3, NIDDM, RCC
HRAS HRas proto-oncogene, GTPase 11 p15.5 3 47 21 2020-05-20 CSTLO
JAK2 Janus kinase 2 9 p24.1 0 0 0 N/A -
KIT KIT proto-oncogene, receptor tyrosine kinase 4 q12 2 251 71 2020-06-29 AML, GIST, MASTC, PBT
MAX MYC associated factor X 14 q23.3 7 21 17 2020-05-20 Pheo
MEN1 menin 1 11 q13 7 83 35 2020-05-20 MEN1
MET MET proto-oncogene, receptor tyrosine kinase 7 q31 2 211 74 2020-05-20 DFNB97, OSFD, RCCP1
MLH1 mutL homolog 1 3 p22.2 7 786 123 2020-06-29 HNPCC2, MMRCS, MRTES
MLPH melanophilin 2 q37.3 4 0 0 2020-05-20 -
MSH2 mutS homolog 2 2 p21-p16.3 2 296 86 2020-05-20 HNPCC1, MMRCS, MRTES
MSH6 mutS homolog 6 2 p16.3 4 336 95 2020-06-24 ENC, HNPCC5, MMRCS
MUTYH mutY DNA glycosylase 1 p34.1 6 192 65 2020-06-29 FAP2
NBN nibrin 8 q21.3 1 117 53 2020-05-20 AplAn, NBS
NF1 neurofibromin 1 17 q11.2 3 1499 283 2020-06-26 NF1
NF2 neurofibromin 2 22 q12.2 9 81 43 2020-06-17 NF2
NSD1 nuclear receptor binding SET domain protein 1 5 q35.3 2 200 102 2020-05-20 AML, SOTOS1
NTHL1 nth like DNA glycosylase 1 16 p13.3 1 0 0 2020-05-20 BrCa, FAP3
PALB2 partner and localizer of BRCA2 16 p12.2 1 211 72 2020-05-20 BrCa, FANCN, PNCA3
PHOX2B paired like homeobox 2B 4 p13 1 50 27 2020-05-20 CCHS, NBLST2
PMS1 PMS1 homolog 1, mismatch repair system component 2 q32.2 3 121 59 2020-05-20 -
PMS2 PMS1 homolog 2, mismatch repair system component 7 p22.1 1 375 98 2020-06-26 HNPCC4, MMRCS
PPM1D protein phosphatase, Mg2+/Mn2+ dependent 1D 17 q23.3 0 0 0 N/A -
PRF1 perforin 1 10 q22.1 2 157 40 2020-05-20 AplAn, FHL2, NHL
PRKAR1A protein kinase cAMP-dependent type I regulatory subunit alpha 17 q24.2 5 88 31 2020-05-20 ACRDYS1, CNC1, InCardMyx, PPNAD1
PTCH1 patched 1 9 q22.32 7 338 125 2020-05-20 BCNS, HPE7
PTEN phosphatase and tensin homolog 10 q23.31 1 87 17 2020-06-26 CWS1, FMNG, MCAS, VACTERL-H
RAD51C RAD51 paralog C 17 q22 2 127 35 2020-06-26 BrCa, BROVCA3, FANCO
RAD51D RAD51 paralog D 17 q12 3 40 28 2020-05-20 BrCa, BROVCA4
RB1 RB transcriptional corepressor 1 13 q14.2 1 390 91 2020-05-20 RB1
RECQL4 RecQ like helicase 4 8 q24.3 1 675 223 2020-06-29 BGS, RPDLN, RTS
RET ret proto-oncogene 10 q11.21 2 214 108 2020-05-27 CCHS, HSCR1, MEN2A, MEN2B, MTC, Pheo
RHBDF2 rhomboid 5 homolog 2 17 q25.1 2 207 70 2020-05-20 TOC
RUNX1 RUNX family transcription factor 1 21 q22.12 3 75 26 2020-05-20 AML, FPDMM
SBDS SBDS ribosome maturation factor 7 q11.21 1 130 30 2020-05-20 AplAn, SDS1
SDHAF2 succinate dehydrogenase complex assembly factor 2 11 q12.2 1 24 11 2020-05-20 PGL2
SDHB succinate dehydrogenase complex iron sulfur subunit B 1 p36.13 1 138 28 2020-05-20 GIST, PGL2, PGL4, PGLGSS, Pheo
SDHC succinate dehydrogenase complex subunit C 1 q23.3 5 94 28 2020-05-20 GIST, PGL3, PGLGSS
SDHD succinate dehydrogenase complex subunit D 11 q23.1 4 42 12 2020-05-20 MC2D, PGL1, PGLGSS, Pheo
SLX4 SLX4 structure-specific endonuclease subunit 16 p13.3 1 512 167 2020-06-29 FANCP
SMAD4 SMAD family member 4 18 q21.2 1 108 38 2020-06-26 JPHT, JPS, MYHRS
SMARCB1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 22 q11.23 2 83 27 2020-06-05 CSS3, RTPS1, SWNTS1
STK11 serine/threonine kinase 11 19 p13.3 1 89 50 2020-05-20 PANCA, PJS
SUFU SUFU negative regulator of hedgehog signaling 10 q24.32 2 130 30 2020-06-17 BCNS, FMNG, JBTS32, MDB
TMEM127 transmembrane protein 127 2 q11.2 2 24 13 2020-05-20 Pheo
TP53 tumor protein p53 17 p13.1 15 96 35 2020-05-20 ADCC, BCC7, BMFS5, BrCa, CPP, CRC, GLM1, LFS, OSRC
TSC1 TSC complex subunit 1 9 q34 3 198 79 2020-05-27 LAM, TSC1
TSC2 TSC complex subunit 2 16 p13.3 3 834 308 2020-06-29 LAM, TSC2
VHL von Hippel-Lindau tumor suppressor 3 p25.3 2 45 23 2020-05-20 ECYT2, Pheo, VHL
WRN WRN RecQ like helicase 8 p12 1 389 126 2020-05-20 WRN
WT1 WT1 transcription factor 11 p13 5 106 36 2020-06-05 DDS, FRSR, MCHM, NPHS4, WT1
XPA XPA, DNA damage recognition and repair factor 9 q22.33 1 35 25 2020-05-20 XPA
XPC XPC complex subunit, DNA damage recognition and repair factor 3 p25.1 2 252 70 2020-06-29 XPC