RHOA, ras homolog family member A, 387

N. diseases: 193; N. variants: 16
Disease: Congenital ectodermal dysplasia of face ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1744559
Disease: Congenital ectodermal dysplasia of face
Congenital ectodermal dysplasia of face 		0.300 Biomarker disease CTD_human Postzygotic inactivating mutations of RHOA cause a mosaic neuroectodermal syndrome. 31570889 2019