COL4A1, collagen type IV alpha 1 chain, 1282

N. diseases: 51; N. variants: 57
Disease: Schizencephaly ×
Source: CURATED ×
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0266484
Disease: Schizencephaly
Schizencephaly 		0.750 Biomarker disease GENOMICS_ENGLAND Our study further emphasizes the need to search for both COL4A1 and COL4A2 mutations in children presenting with uni- or bilateral polymicrogyria with schizencephaly, even in the absence of intracranial microbleeds, calcification or associated systemic features. 30315939 2018
CUI: C0266484
Disease: Schizencephaly
Schizencephaly 		0.750 Biomarker disease CTD_human Our study first confirmed that COL4A1 mutations are associated with schizencephaly and hemolytic anemia. 23225343 2013
CUI: C0266484
Disease: Schizencephaly
Schizencephaly 		0.750 GeneticVariation disease UNIPROT Our study first confirmed that COL4A1 mutations are associated with schizencephaly and hemolytic anemia. 23225343 2013