COL4A1, collagen type IV alpha 1 chain, 1282

N. diseases: 277; N. variants: 62
Disease: Familial vascular leukoencephalopathy ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2930808
Disease: Familial vascular leukoencephalopathy
Familial vascular leukoencephalopathy 		0.500 GermlineCausalMutation disease ORPHANET Novel COL4A1 mutations cause cerebral small vessel disease by haploinsufficiency. 23065703 2013
CUI: C2930808
Disease: Familial vascular leukoencephalopathy
Familial vascular leukoencephalopathy 		0.500 Biomarker disease MGD Role of COL4A1 in small-vessel disease and hemorrhagic stroke. 16598045 2006
CUI: C2930808
Disease: Familial vascular leukoencephalopathy
Familial vascular leukoencephalopathy 		0.500 Biomarker disease MGD Mutations in Col4a1 cause perinatal cerebral hemorrhage and porencephaly. 15905400 2005