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: 10075
Gene Symbol: HUWE1
HUWE1 		HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 0.534 0.769 1.00
CUI: C4021650
Disease: Short third metatarsal
Short third metatarsal 		phenotype 0.100 None 0 1
Entrez Id: 7874
Gene Symbol: USP7
USP7 		ubiquitin specific peptidase 7 0.538 0.808 1.00
CUI: C4021650
Disease: Short third metatarsal
Short third metatarsal 		phenotype 0.100 None 0 1