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: 4763
Gene Symbol: NF1
NF1 		P21359 neurofibromin 1 Enzyme modulator 47 0.440 0.885 0.90 0.480 None 1.000 0 1 1996 2014
Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1 		P11362 fibroblast growth factor receptor 1 Kinase 27 0.362 0.885 1.00 0.450 None 1.000 1 5 1994 2019
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11 		Q06124 protein tyrosine phosphatase non-receptor type 11 153 0.385 0.923 1.00 0.430 None 1.000 1 2 2004 2019
Entrez Id: 3417
Gene Symbol: IDH1
IDH1 		O75874 isocitrate dehydrogenase (NADP(+)) 1 18 0.424 0.808 2.6E-12 0.200 None 0.959 4 2 2008 2020
Entrez Id: 3020
Gene Symbol: H3-3A
H3-3A 		P84243 H3.3 histone A 68 0.559 0.692 0.12 0.160 None 1.000 1 1 2013 2018