COL4A1, collagen type IV alpha 1 chain, 1282

N. diseases: 51; N. variants: 57
Disease: PORENCEPHALY, FAMILIAL ×
Source: CURATED ×
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1867983
Disease: PORENCEPHALY, FAMILIAL
PORENCEPHALY, FAMILIAL 		0.830 Biomarker disease CTD_human Phenotypic spectrum of COL4A1 mutations: porencephaly to schizencephaly. 23225343 2013
CUI: C1867983
Disease: PORENCEPHALY, FAMILIAL
PORENCEPHALY, FAMILIAL 		0.830 Biomarker disease CTD_human Total pericardiectomy for uremic pericarditis. 607595 1977
CUI: C1867983
Disease: PORENCEPHALY, FAMILIAL
PORENCEPHALY, FAMILIAL 		0.830 GermlineCausalMutation disease ORPHANET