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: 5314
Gene Symbol: PKHD1
PKHD1 		PKHD1 ciliary IPT domain containing fibrocystin/polyductin 0.576 0.654 1.2E-47
CUI: C0340279
Disease: Ventricular hypertrophy
Ventricular hypertrophy 		disease 0.100 None 0 2
Entrez Id: 5373
Gene Symbol: PMM2
PMM2 		phosphomannomutase 2 0.535 0.769 1.4E-17
CUI: C0340279
Disease: Ventricular hypertrophy
Ventricular hypertrophy 		disease 0.100 None 0 2
Entrez Id: 673
Gene Symbol: BRAF
BRAF 		B-Raf proto-oncogene, serine/threonine kinase 0.319 0.846 1.00
CUI: C0340279
Disease: Ventricular hypertrophy
Ventricular hypertrophy 		disease 0.100 None 0 1