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: 79876
Gene Symbol: UBA5
UBA5 		ubiquitin like modifier activating enzyme 5 0.582 0.731 2.5E-04
CUI: C0423224
Disease: Sunken eyes
Sunken eyes 		phenotype 0.100 None 0 2
Entrez Id: 9839
Gene Symbol: ZEB2
ZEB2 		zinc finger E-box binding homeobox 2 0.471 0.808 1.00
CUI: C0423224
Disease: Sunken eyes
Sunken eyes 		phenotype 0.100 None 0 1
Entrez Id: 84083
Gene Symbol: ZRANB3
ZRANB3 		zinc finger RANBP2-type containing 3 0.780 0.577 4.2E-21
CUI: C0423224
Disease: Sunken eyes
Sunken eyes 		phenotype 0.100 None 0 1