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: 157680
Gene Symbol: VPS13B
VPS13B 		vacuolar protein sorting 13 homolog B 0.579 0.769 2.5E-45
CUI: C0265223
Disease: Cohen syndrome
Cohen syndrome 		disease 0.800 None 1.000 28 291 1994 2020
Entrez Id: 1345
Gene Symbol: COX6C
COX6C 		cytochrome c oxidase subunit 6C 0.861 0.385 4.9E-02
CUI: C0265223
Disease: Cohen syndrome
Cohen syndrome 		disease 0.100 None 1.000 4 8 2004 2016