COL4A1, collagen type IV alpha 1 chain, 1282

N. diseases: 277; N. variants: 62
Disease: Anemia, Hemolytic ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0002878
Disease: Anemia, Hemolytic
Anemia, Hemolytic 		0.420 GeneticVariation disease BEFREE We therefore believe that all of the patient's clinical features, including hemolytic anemia, were due to the mutation in COL4A1. 24861536 2016
CUI: C0002878
Disease: Anemia, Hemolytic
Anemia, Hemolytic 		0.420 GeneticVariation disease BEFREE Our study first confirmed that COL4A1 mutations are associated with schizencephaly and hemolytic anemia. 23225343 2013
CUI: C0002878
Disease: Anemia, Hemolytic
Anemia, Hemolytic 		0.420 Biomarker disease CTD_human Our study first confirmed that COL4A1 mutations are associated with schizencephaly and hemolytic anemia. 23225343 2013
CUI: C0002878
Disease: Anemia, Hemolytic
Anemia, Hemolytic 		0.420 Biomarker disease HPO