COL4A1, collagen type IV alpha 1 chain, 1282

N. diseases: 277; N. variants: 62
Disease: HEMORRHAGE, INTRACEREBRAL, SUSCEPTIBILITY TO ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3281105
Disease: HEMORRHAGE, INTRACEREBRAL, SUSCEPTIBILITY TO
HEMORRHAGE, INTRACEREBRAL, SUSCEPTIBILITY TO 		0.600 GeneticVariation disease UNIPROT This is the first assessment of the broader role for COL4A1 mutations in the etiology of ICH beyond a contribution to rare and severe familial cases and the first functional evaluation of the biosynthetic consequences of an allelic series of COL4A1 mutations that cause cerebrovascular disease. 22522439 2012
CUI: C3281105
Disease: HEMORRHAGE, INTRACEREBRAL, SUSCEPTIBILITY TO
HEMORRHAGE, INTRACEREBRAL, SUSCEPTIBILITY TO 		0.600 Biomarker disease GENOMICS_ENGLAND Clinical and brain MRI follow-up study of a family with COL4A1 mutation. 17938367 2007
CUI: C3281105
Disease: HEMORRHAGE, INTRACEREBRAL, SUSCEPTIBILITY TO
HEMORRHAGE, INTRACEREBRAL, SUSCEPTIBILITY TO 		0.600 Biomarker disease GENOMICS_ENGLAND
CUI: C3281105
Disease: HEMORRHAGE, INTRACEREBRAL, SUSCEPTIBILITY TO
HEMORRHAGE, INTRACEREBRAL, SUSCEPTIBILITY TO 		0.600 SusceptibilityMutation disease CLINVAR