Source: CLINVAR

Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
protein tyrosine phosphatase, non-receptor type 11 0.429 0.828 1.00
CUI: C0041409
Disease: Turner Syndrome, Male
Turner Syndrome, Male
disease 0.900 0.968 22 31 1993 2018
Entrez Id: 4893
Gene Symbol: NRAS
NRAS
NRAS proto-oncogene, GTPase 0.420 0.690 0.53
CUI: C0041409
Disease: Turner Syndrome, Male
Turner Syndrome, Male
disease 0.440 1.000 1 4 1993 2014
Entrez Id: 673
Gene Symbol: BRAF
BRAF
B-Raf proto-oncogene, serine/threonine kinase 0.352 0.793 1.00
CUI: C0041409
Disease: Turner Syndrome, Male
Turner Syndrome, Male
disease 0.420 1.000 2 5 1993 2015