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: 2245
Gene Symbol: FGD1
FGD1 		FYVE, RhoGEF and PH domain containing 1 0.573 0.731 1.00
CUI: C0175701
Disease: Aarskog syndrome
Aarskog syndrome 		disease 0.800 definitive 0.935 0 12 1994 2017
Entrez Id: 2245
Gene Symbol: FGD1
FGD1 		FYVE, RhoGEF and PH domain containing 1 0.573 0.731 1.00
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		disease 0.110 None 1.000 11 3 1996 2014
Entrez Id: 2245
Gene Symbol: FGD1
FGD1 		FYVE, RhoGEF and PH domain containing 1 0.573 0.731 1.00
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		group 0.100 None 1.000 11 3 1996 2014
Entrez Id: 2245
Gene Symbol: FGD1
FGD1 		FYVE, RhoGEF and PH domain containing 1 0.573 0.731 1.00
CUI: C3275558
Disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC 16
MENTAL RETARDATION, X-LINKED, SYNDROMIC 16 		disease 0.100 None 0 1