Source: CLINVAR ×
Gene UniProt Gene Full Name Protein Class N. diseases g DSI g DPI g pLI Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 5979
Gene Symbol: RET
RET 		P07949 ret proto-oncogene Kinase 36 0.392 0.885 1.00 0.200 None 1.000 92 13 1992 2018
Entrez Id: 7428
Gene Symbol: VHL
VHL 		P40337 von Hippel-Lindau tumor suppressor Enzyme 14 0.443 0.846 8.0E-02 0.180 None 1.000 165 59 1994 2017
Entrez Id: 8314
Gene Symbol: BAP1
BAP1 		Q92560 BRCA1 associated protein 1 Enzyme 9 0.454 0.731 0.99 0.180 None 1.000 11 23 2011 2019
Entrez Id: 7157
Gene Symbol: TP53
TP53 		P04637 tumor protein p53 Transcription factor 84 0.236 0.962 0.53 0.170 None 1.000 365 201 1989 2018
Entrez Id: 5728
Gene Symbol: PTEN
PTEN 		P60484 phosphatase and tensin homolog Enzyme 107 0.305 0.923 0.26 0.160 None 1.000 148 183 1997 2018
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1 		P38398 BRCA1 DNA repair associated Enzyme 22 0.367 0.923 9.2E-29 0.150 None 1.000 744 705 1975 2019
Entrez Id: 4292
Gene Symbol: MLH1
MLH1 		P40692 mutL homolog 1 Nucleic acid binding 15 0.399 0.808 3.4E-05 0.150 None 1.000 298 189 1978 2018
Entrez Id: 2271
Gene Symbol: FH
FH 		P07954 fumarate hydratase Enzyme 7 0.489 0.846 8.8E-02 0.150 None 1.000 70 63 1997 2019
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2 		P51587 BRCA2 DNA repair associated Nucleic acid binding 68 0.379 0.846 2.4E-25 0.130 None 1.000 701 1021 1996 2019
Entrez Id: 4436
Gene Symbol: MSH2
MSH2 		P43246 mutS homolog 2 Nucleic acid binding 20 0.406 0.808 0.90 0.130 None 1.000 320 309 1990 2018
Entrez Id: 999
Gene Symbol: CDH1
CDH1 		P12830 cadherin 1 10 0.401 0.808 0.15 0.130 None 1.000 66 87 1994 2019
Entrez Id: 6794
Gene Symbol: STK11
STK11 		Q15831 serine/threonine kinase 11 Kinase 22 0.435 0.808 0.99 0.120 None 1.000 39 64 1992 2018
Entrez Id: 23405
Gene Symbol: DICER1
DICER1 		Q9UPY3 dicer 1, ribonuclease III Enzyme 5 0.446 0.846 1.00 0.120 None 1.000 12 90 2009 2016
Entrez Id: 2956
Gene Symbol: MSH6
MSH6 		P52701 mutS homolog 6 Nucleic acid binding 18 0.462 0.731 3.7E-05 0.110 None 1.000 190 331 1994 2018
Entrez Id: 324
Gene Symbol: APC
APC 		P25054 APC regulator of WNT signaling pathway 33 0.373 0.962 1.00 0.110 None 1.000 159 257 1991 2017
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A 		P42771 Q8N726 cyclin dependent kinase inhibitor 2A 22 0.300 0.885 0.39 0.110 None 1.000 135 49 1994 2017
Entrez Id: 6390
Gene Symbol: SDHB
SDHB 		P21912 succinate dehydrogenase complex iron sulfur subunit B Enzyme 12 0.474 0.846 2.4E-04 0.110 None 1.000 126 71 1995 2018
Entrez Id: 5395
Gene Symbol: PMS2
PMS2 		P54278 PMS1 homolog 2, mismatch repair system component Nucleic acid binding 33 0.484 0.808 4.5E-27 0.110 None 1.000 112 124 1995 2018
Entrez Id: 7249
Gene Symbol: TSC2
TSC2 		P49815 TSC complex subunit 2 Enzyme modulator 13 0.439 0.808 1.00 0.110 None 1.000 30 29 1994 2017
Entrez Id: 657
Gene Symbol: BMPR1A
BMPR1A 		P36894 bone morphogenetic protein receptor type 1A Kinase 5 0.522 0.731 0.90 0.110 None 1.000 18 60 1997 2019
Entrez Id: 54949
Gene Symbol: SDHAF2
SDHAF2 		Q9NX18 succinate dehydrogenase complex assembly factor 2 3 0.604 0.692 2.8E-06 0.110 None 1.000 6 3 2009 2017
Entrez Id: 472
Gene Symbol: ATM
ATM 		Q13315 ATM serine/threonine kinase Kinase 44 0.374 0.885 5.6E-47 0.100 None 1.000 233 561 1989 2018
Entrez Id: 80204
Gene Symbol: FBXO11
FBXO11 		Q86XK2 F-box protein 11 Enzyme 18 0.604 0.692 1.00 0.100 None 1.000 187 321 1994 2017
Entrez Id: 160140
Gene Symbol: C11orf65
C11orf65 		Q8NCR3 chromosome 11 open reading frame 65 32 0.670 0.462 2.0E-14 0.100 None 1.000 159 220 1996 2018
Entrez Id: 4763
Gene Symbol: NF1
NF1 		P21359 neurofibromin 1 Enzyme modulator 47 0.440 0.885 0.90 0.100 None 1.000 139 215 1990 2018