COL4A1, collagen type IV alpha 1 chain, 1282

N. diseases: 51; N. variants: 57
Disease: Porencephaly ×
Source: CURATED ×
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4082173
Disease: Porencephaly
Porencephaly 		0.400 Biomarker disease CTD_human COL4A1 mutations were identified in 15 patients (21%, 10 mutations in porencephaly and 5 mutations in schizencephaly), who showed a variety of associated findings, including intracranial calcification, focal cortical dysplasia, pontocerebellar atrophy, ocular abnormalities, myopathy, elevated serum creatine kinase levels, and hemolytic anemia. 23225343 2013
CUI: C4082173
Disease: Porencephaly
Porencephaly 		0.400 Biomarker disease CTD_human Total pericardiectomy for uremic pericarditis. 607595 1977