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: 201163
Gene Symbol: FLCN
FLCN 		Q8NFG4 folliculin 7 0.537 0.885 0.79 0.900 None 0.938 0 2 2002 2020
Entrez Id: 7428
Gene Symbol: VHL
VHL 		P40337 von Hippel-Lindau tumor suppressor Enzyme 14 0.443 0.846 8.0E-02 0.800 None 0.972 0 2 1989 2019
Entrez Id: 6927
Gene Symbol: HNF1A
HNF1A 		P20823 HNF1 homeobox A Nucleic acid binding 10 0.478 0.846 0.96 0.720 strong 1.000 0 5 1994 1999
Entrez Id: 55193
Gene Symbol: PBRM1
PBRM1 		Q86U86 polybromo 1 Epigenetic regulator 1 0.566 0.615 1.00 0.700 None 1.000 0 1 2011 2020
Entrez Id: 4968
Gene Symbol: OGG1
OGG1 		O15527 8-oxoguanine DNA glycosylase 1 0.453 0.808 3.9E-12 0.640 None 1.000 0 1 2003 2011
Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2 		O96017 checkpoint kinase 2 Kinase 48 0.460 0.808 1.2E-24 0.110 None < 0.001 0 1 2018 2018
Entrez Id: 23164
Gene Symbol: MPRIP
MPRIP 		Q6WCQ1 myosin phosphatase Rho interacting protein Enzyme modulator 6 0.556 0.885 0.98 0.100 None 0 1
Entrez Id: 283460
Gene Symbol: HNF1A-AS1
HNF1A-AS1 		HNF1A antisense RNA 1 4 0.621 0.538 0.100 None 0 1
Entrez Id: 440957
Gene Symbol: SMIM4
SMIM4 		Q8WVI0 small integral membrane protein 4 1 0.890 0.154 0.20 0.100 None 0 1