RHOA, ras homolog family member A, 387

N. diseases: 193; N. variants: 16
Disease: Hypopigmentation disorder ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0162835
Disease: Hypopigmentation disorder
Hypopigmentation disorder 		0.310 Biomarker disease CTD_human Here we show that postzygotic inactivating mutations of RHOA cause a neuroectodermal syndrome combining linear hypopigmentation, alopecia, apparently asymptomatic leukoencephalopathy, and facial, ocular, dental and acral anomalies. 31570889 2019
CUI: C0162835
Disease: Hypopigmentation disorder
Hypopigmentation disorder 		0.310 GeneticVariation disease BEFREE Here we show that postzygotic inactivating mutations of RHOA cause a neuroectodermal syndrome combining linear hypopigmentation, alopecia, apparently asymptomatic leukoencephalopathy, and facial, ocular, dental and acral anomalies. 31570889 2019