COL4A1, collagen type IV alpha 1 chain, 1282

N. diseases: 51; N. variants: 57
Source: CURATED ×
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0270612
Disease: Leukoencephalopathy
Leukoencephalopathy
0.480 Biomarker group CTD_human Ophthalmological features associated with COL4A1 mutations. 20385946 2010