COL4A1, collagen type IV alpha 1 chain, 1282

N. diseases: 51; N. variants: 57
Disease: Axenfeld anomaly (disorder) ×
Source: CURATED ×
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0266548
Disease: Axenfeld anomaly (disorder)
Axenfeld anomaly (disorder) 		0.510 Biomarker disease CTD_human Ophthalmological features associated with COL4A1 mutations. 20385946 2010
CUI: C0266548
Disease: Axenfeld anomaly (disorder)
Axenfeld anomaly (disorder) 		0.510 Biomarker disease GENOMICS_ENGLAND Clinical and brain MRI follow-up study of a family with COL4A1 mutation. 17938367 2007
CUI: C0266548
Disease: Axenfeld anomaly (disorder)
Axenfeld anomaly (disorder) 		0.510 Biomarker disease CTD_human COL4A1 mutation in Axenfeld-Rieger anomaly with leukoencephalopathy and stroke. 17696175 2007