Source: ALL

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5923
Gene Symbol: RASGRF1
RASGRF1
CUI: C0175701
Disease: Aarskog syndrome
Aarskog syndrome 		0.030 AlteredExpression BEFREE FGD5 (faciogenital dysplasia-5)-a Rho-family guanine nucleotide exchange factor-is selectively expressed in EC. 29051140

2017
Entrez Id: 5923
Gene Symbol: RASGRF1
RASGRF1
CUI: C0175701
Disease: Aarskog syndrome
Aarskog syndrome 		0.030 GeneticVariation BEFREE Fgd1, the Cdc42 guanine nucleotide exchange factor responsible for faciogenital dysplasia, is localized to the subcortical actin cytoskeleton and Golgi membrane. 11181572

2001
Entrez Id: 5923
Gene Symbol: RASGRF1
RASGRF1
CUI: C0175701
Disease: Aarskog syndrome
Aarskog syndrome 		0.030 GeneticVariation BEFREE FGD1 encodes a guanine nucleotide exchange factor (GEF) that specifically activates the Rho GTPase Cdc42; FGD1 mutations result in Faciogenital Dysplasia (FGDY, Aarskog syndrome), an X-linked developmental disorder that adversely affects the formation of multiple skeletal structures. 10906777

2000