COL4A1, collagen type IV alpha 1 chain, 1282

N. diseases: 277; N. variants: 62
Disease: Retinal vascular tortuosity ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1860475
Disease: Retinal vascular tortuosity
Retinal vascular tortuosity 		0.400 Biomarker phenotype GENOMICS_ENGLAND Novel COL4A1 mutations associated with HANAC syndrome: a role for the triple helical CB3[IV] domain. 20818663 2010
CUI: C1860475
Disease: Retinal vascular tortuosity
Retinal vascular tortuosity 		0.400 Biomarker phenotype GENOMICS_ENGLAND [Hereditary angiopathy with nephropathy, aneurysms and muscle cramps (HANAC): a new basement membrane-disease associated with mutations of the COL4A1 gene]. 19238787 2008
CUI: C1860475
Disease: Retinal vascular tortuosity
Retinal vascular tortuosity 		0.400 Biomarker phenotype GENOMICS_ENGLAND COL4A1 mutations and hereditary angiopathy, nephropathy, aneurysms, and muscle cramps. 18160688 2007
CUI: C1860475
Disease: Retinal vascular tortuosity
Retinal vascular tortuosity 		0.400 Biomarker phenotype HPO