All genes

98 entries on 1 page. Showing entries 1 - 98.

AscendingSymbol     
Gene     
Chr     
Band
Transcripts     
Variants     
Unique variants     
Last updated     
Associated with diseases
AIP aryl hydrocarbon receptor interacting protein 11 q13.2 1 182 35 2022-05-16 PitAP
ALK ALK receptor tyrosine kinase 2 p23.2-p23.1 1 527 132 2022-05-16 NBLST3
APC APC regulator of WNT signaling pathway 5 q22.2 3 594 178 2022-05-16 FAP1
ATM ATM serine/threonine kinase 11 q22.3 1 798 261 2020-11-23 AT, BrCa
BAP1 BRCA1 associated protein 1 3 p21.1 1 245 80 2020-09-01 TPDS
BARD1 BRCA1 associated RING domain 1 2 q35 1 22 9 2020-10-19 -
BLM BLM RecQ like helicase 15 q26.1 1 290 111 2022-05-16 BLM
BMPR1A bone morphogenetic protein receptor type 1A 10 q23.2 1 143 53 2022-05-17 JPS
BRCA1 BRCA1 DNA repair associated 17 q21.31 5 1207 221 2022-06-14 BrCa, BROVCA1, FANCS, PNCA4
BRCA2 BRCA2 DNA repair associated 13 q13.1 1 1117 295 2022-05-27 BrCa, BROVCA2, FANCD1, GLM3, MDB, PNCA2, PrCa, WT1
BRIP1 BRCA1 interacting protein C-terminal helicase 1 17 q23.2 1 215 88 2020-11-04 BrCa, FANCJ
BUB1B BUB1 mitotic checkpoint serine/threonine kinase B 15 q15.1 1 215 76 2020-10-07 MVA1, PCS
CDC73 cell division cycle 73 1 q31.2 1 80 45 2020-05-20 HRPT1, HRPT2, PRTC
CDH1 cadherin 1 16 q22.1 1 296 75 2020-12-23 BCDS1, BrCa, CDH1, PrCa
CDK4 cyclin dependent kinase 4 12 q14.1 1 56 23 2020-05-20 CMM3
CDKN1C cyclin dependent kinase inhibitor 1C 11 p15.4 3 51 27 2020-12-23 BWS, IMAGE
CDKN2A cyclin dependent kinase inhibitor 2A 9 p21.3 4 78 30 2020-09-10 CMM2, MAS, MPCS
CEBPA CCAAT enhancer binding protein alpha 19 q13.11 1 43 18 2020-05-20 AML
CEP57 centrosomal protein 57 11 q21 3 123 45 2020-06-05 MVA2
CHEK2 checkpoint kinase 2 22 q12.1 4 466 96 2022-05-27 BrCa, PrCa
CYLD CYLD lysine 63 deubiquitinase 16 q12.1 3 100 42 2020-09-17 BRSS, FCyl, MFT1
DDB2 damage specific DNA binding protein 2 11 p11.2 1 162 36 2022-05-16 XPE
DICER1 dicer 1, ribonuclease III 14 q32.13 4 201 102 2020-10-07 MNG1, PPB, RMSE2
DIS3L2 DIS3 like 3'-5' exoribonuclease 2 2 q37.1 3 394 118 2020-12-23 PRLMNS
EGFR epidermal growth factor receptor 7 p11.2 4 375 91 2022-05-16 LuCa, NISBD2
EPCAM epithelial cell adhesion molecule 2 p21 1 129 50 2020-10-07 DIAR5, HNPCC8
ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit 19 q13.32 2 224 132 2020-09-17 COFS2, XPD
ERCC3 ERCC excision repair 3, TFIIH core complex helicase subunit 2 q14.3 1 215 74 2020-10-07 TTD2, XPB
ERCC4 ERCC excision repair 4, endonuclease catalytic subunit 16 p13.12 1 193 65 2020-09-17 FANCQ, XFEPS, XPF
ERCC5 ERCC excision repair 5, endonuclease 13 q33.1 1 422 103 2022-05-16 COFS3, XPG
EXT1 exostosin glycosyltransferase 1 8 q24.11 1 57 31 2020-05-20 ChonSar, EXT1
EXT2 exostosin glycosyltransferase 2 11 p11.2 3 125 59 2020-10-01 EXT2, SSMS
EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit 7 q36.1 5 121 64 2020-09-17 WVS
FANCA FA complementation group A 16 q24.3 2 669 242 2020-10-07 FANCA
FANCB FA complementation group B X p22.2 2 85 33 2020-10-07 FANCB
FANCC FA complementation group C 9 q22.32 3 163 55 2020-10-01 FANCC
FANCD2 FA complementation group D2 3 p25.3 2 1004 166 2022-05-16 FANCD2
FANCE FA complementation group E 6 p21.31 1 234 55 2022-05-16 FANCE
FANCF FA complementation group F 11 p14.3 1 102 28 2020-10-07 FANCF
FANCG FA complementation group G 9 p13.3 1 79 42 2020-10-07 FANCG
FANCI FA complementation group I 15 q26.1 2 412 135 2020-10-07 FANCI
FANCL FA complementation group L 2 p16.1 2 192 50 2022-05-16 FANCL
FANCM FA complementation group M 14 q21.2 1 309 131 2020-09-23 POF15, SPGF28
FH fumarate hydratase 1 q43 1 80 46 2020-05-20 FMRD, HLRCC
FLCN folliculin 17 p11.2 2 191 60 2020-11-15 BHD, PSP
GATA2 GATA binding protein 2 3 q21.3 3 46 31 2020-05-20 AML, EmbS, IMD21
GPC3 glypican 3 X q26.2 4 81 26 2020-12-23 SGBS1
HNF1A HNF1 homeobox A 12 q24.31 1 181 62 2020-05-20 IDDM, MODY3, NIDDM, RCC
HRAS HRas proto-oncogene, GTPase 11 p15.5 3 52 21 2020-10-07 CSTLO
KIT KIT proto-oncogene, receptor tyrosine kinase 4 q12 2 267 71 2020-06-29 AML, GIST, MASTC, PBT
MAX MYC associated factor X 14 q23.3 7 24 18 2020-10-07 Pheo
MEN1 menin 1 11 q13 7 114 45 2020-12-23 MEN1
MET MET proto-oncogene, receptor tyrosine kinase 7 q31 2 222 79 2022-05-16 DFNB97, OSFD, RCCP1
MLH1 mutL homolog 1 3 p22.2 7 894 142 2020-10-07 HNPCC2, MMRCS, MRTES
MSH2 mutS homolog 2 2 p21-p16.3 2 367 108 2021-02-22 HNPCC1, MMRCS, MRTES
MSH6 mutS homolog 6 2 p16.3 4 383 111 2020-11-23 ENC, HNPCC5, MMRCS
MUTYH mutY DNA glycosylase 1 p34.1 6 277 76 2020-12-23 FAP2
NBN nibrin 8 q21.3 1 143 59 2020-09-23 AplAn, NBS
NF1 neurofibromin 1 17 q11.2 3 719 269 2022-05-16 NF1
NF2 neurofibromin 2 22 q12.2 9 88 46 2022-05-16 NF2
NSD1 nuclear receptor binding SET domain protein 1 5 q35.3 2 312 113 2022-05-16 AML, SOTOS1
NTHL1 nth like DNA glycosylase 1 16 p13.3 1 4 1 2020-09-08 BrCa, FAP3
PALB2 partner and localizer of BRCA2 16 p12.2 1 298 90 2022-05-27 BrCa, FANCN, PNCA3
PHOX2B paired like homeobox 2B 4 p13 1 58 30 2020-09-08 CCHS, NBLST2
PMS1 PMS1 homolog 1, mismatch repair system component 2 q32.2 3 132 63 2020-05-20 -
PMS2 PMS1 homolog 2, mismatch repair system component 7 p22.1 1 618 116 2022-05-16 HNPCC4, MMRCS
PPM1D protein phosphatase, Mg2+/Mn2+ dependent 1D 17 q23.3 1 28 16 2020-11-02 -
PRF1 perforin 1 10 q22.1 2 247 44 2022-05-16 AplAn, FHL2, NHL
PRKAR1A protein kinase cAMP-dependent type I regulatory subunit alpha 17 q24.2 5 101 34 2020-05-20 ACRDYS1, CNC1, InCardMyx, PPNAD1
PTCH1 patched 1 9 q22.32 7 378 136 2022-05-17 BCNS, HPE7
PTEN phosphatase and tensin homolog 10 q23.31 1 108 24 2020-12-23 CWS1, FMNG, MCAS, VACTERL-H
RAD51C RAD51 paralog C 17 q22 2 154 40 2020-10-27 BrCa, BROVCA3, FANCO
RAD51D RAD51 paralog D 17 q12 3 49 35 2020-10-27 BrCa, BROVCA4
RB1 RB transcriptional corepressor 1 13 q14.2 1 413 95 2020-08-31 RB1
RECQL4 RecQ like helicase 4 8 q24.3 1 820 240 2022-05-16 BGS, RPDLN, RTS
RET ret proto-oncogene 10 q11.21 2 402 122 2022-05-16 CCHS, HSCR1, MEN2A, MEN2B, MTC, Pheo
RHBDF2 rhomboid 5 homolog 2 17 q25.1 2 296 77 2022-05-16 TOC
RUNX1 RUNX family transcription factor 1 21 q22.12 3 80 29 2020-05-20 AML, FPDMM
SBDS SBDS ribosome maturation factor 7 q11.21 1 163 31 2020-10-19 AplAn, SDS1
SDHAF2 succinate dehydrogenase complex assembly factor 2 11 q12.2 1 29 14 2020-05-20 PGL2
SDHB succinate dehydrogenase complex iron sulfur subunit B 1 p36.13 1 244 38 2022-05-16 GIST, PGL2, PGL4, PGLGSS, Pheo
SDHC succinate dehydrogenase complex subunit C 1 q23.3 5 113 29 2020-09-17 GIST, PGL3, PGLGSS
SDHD succinate dehydrogenase complex subunit D 11 q23.1 4 57 16 2020-10-07 MC2D, PGL1, PGLGSS, Pheo
SLX4 SLX4 structure-specific endonuclease subunit 16 p13.3 1 631 181 2022-05-16 FANCP
SMAD4 SMAD family member 4 18 q21.2 1 119 42 2020-09-17 JPHT, JPS, MYHRS
SMARCA4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 19 p13.2 7 4 1 2020-09-24 OVCA
SMARCB1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 22 q11.23 2 87 27 2020-06-05 CSS3, RTPS1, SWNTS1
STK11 serine/threonine kinase 11 19 p13.3 1 112 65 2020-11-09 PANCA, PJS
SUFU SUFU negative regulator of hedgehog signaling 10 q24.32 2 142 30 2020-11-10 BCNS, FMNG, JBTS32, MDB
TMEM127 transmembrane protein 127 2 q11.2 2 27 16 2020-05-20 Pheo
TP53 tumor protein p53 17 p13.1 15 210 48 2022-05-16 ADCC, BCC7, BMFS5, BrCa, CPP, CRC, GLM1, LFS, OSRC
TSC1 TSC complex subunit 1 9 q34 3 221 85 2020-05-27 LAM, TSC1
TSC2 TSC complex subunit 2 16 p13.3 3 927 329 2022-05-16 LAM, TSC2
VHL von Hippel-Lindau tumor suppressor 3 p25.3 2 78 39 2020-11-23 ECYT2, Pheo, VHL
WRN WRN RecQ like helicase 8 p12 1 427 136 2020-10-07 WRN
WT1 WT1 transcription factor 11 p13 5 117 39 2020-06-05 DDS, FRSR, MCHM, NPHS4, WT1
XPA XPA, DNA damage recognition and repair factor 9 q22.33 1 38 27 2020-05-20 XPA
XPC XPC complex subunit, DNA damage recognition and repair factor 3 p25.1 2 271 73 2020-10-19 XPC

  Powered by LOVD v.3.0 Build 23
LOVD software ©2004-2020 Leiden University Medical Center 		There is an LOVD update available.