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: 3190
Gene Symbol: HNRNPK
HNRNPK 		heterogeneous nuclear ribonucleoprotein K 0.539 0.846 1.00
CUI: C4020699
Disease: Congenital dermal melanocytosis
Congenital dermal melanocytosis 		disease 0.100 None 0 1
Entrez Id: 64207
Gene Symbol: IRF2BPL
IRF2BPL 		interferon regulatory factor 2 binding protein like 0.631 0.462 0.84
CUI: C4020699
Disease: Congenital dermal melanocytosis
Congenital dermal melanocytosis 		disease 0.100 None 0 1
Entrez Id: 6608
Gene Symbol: SMO
SMO 		smoothened, frizzled class receptor 0.489 0.731 4.3E-07
CUI: C4020699
Disease: Congenital dermal melanocytosis
Congenital dermal melanocytosis 		disease 0.100 None 0 1