COL4A1, collagen type IV alpha 1 chain, 1282

N. diseases: 277; N. variants: 62
Disease: Porencephaly, Type 1, Autosomal Dominant ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4551998
Disease: Porencephaly, Type 1, Autosomal Dominant
Porencephaly, Type 1, Autosomal Dominant 		0.900 Biomarker disease GENOMICS_ENGLAND Further refinement of COL4A1 and COL4A2 related cortical malformations. 30315939 2018
CUI: C4551998
Disease: Porencephaly, Type 1, Autosomal Dominant
Porencephaly, Type 1, Autosomal Dominant 		0.900 GeneticVariation disease UNIPROT Whole exome analysis identifies dominant COL4A1 mutations in patients with complex ocular phenotypes involving microphthalmia. 24628545 2014
CUI: C4551998
Disease: Porencephaly, Type 1, Autosomal Dominant
Porencephaly, Type 1, Autosomal Dominant 		0.900 Biomarker disease GENOMICS_ENGLAND A practical approach to diagnosing adult onset leukodystrophies. 24357685 2014
CUI: C4551998
Disease: Porencephaly, Type 1, Autosomal Dominant
Porencephaly, Type 1, Autosomal Dominant 		0.900 Biomarker disease GENOMICS_ENGLAND Whole exome analysis identifies dominant COL4A1 mutations in patients with complex ocular phenotypes involving microphthalmia. 24628545 2014
CUI: C4551998
Disease: Porencephaly, Type 1, Autosomal Dominant
Porencephaly, Type 1, Autosomal Dominant 		0.900 Biomarker disease CTD_human Phenotypic spectrum of COL4A1 mutations: porencephaly to schizencephaly. 23225343 2013
CUI: C4551998
Disease: Porencephaly, Type 1, Autosomal Dominant
Porencephaly, Type 1, Autosomal Dominant 		0.900 Biomarker disease GENOMICS_ENGLAND Phenotypic spectrum of COL4A1 mutations: porencephaly to schizencephaly. 23225343 2013
CUI: C4551998
Disease: Porencephaly, Type 1, Autosomal Dominant
Porencephaly, Type 1, Autosomal Dominant 		0.900 GeneticVariation disease UNIPROT Variants of anterior segment dysgenesis and cerebral involvement in a large family with a novel COL4A1 mutation. 23394911 2013
CUI: C4551998
Disease: Porencephaly, Type 1, Autosomal Dominant
Porencephaly, Type 1, Autosomal Dominant 		0.900 GeneticVariation disease UNIPROT Childhood presentation of COL4A1 mutations. 22574627 2012
CUI: C4551998
Disease: Porencephaly, Type 1, Autosomal Dominant
Porencephaly, Type 1, Autosomal Dominant 		0.900 Biomarker disease GENOMICS_ENGLAND COL4A1 mutations associated with a characteristic pattern of intracranial calcification. 22134833 2011
CUI: C4551998
Disease: Porencephaly, Type 1, Autosomal Dominant
Porencephaly, Type 1, Autosomal Dominant 		0.900 Biomarker disease GENOMICS_ENGLAND COL4A1 mutations cause ocular dysgenesis, neuronal localization defects, and myopathy in mice and Walker-Warburg syndrome in humans. 21625620 2011
CUI: C4551998
Disease: Porencephaly, Type 1, Autosomal Dominant
Porencephaly, Type 1, Autosomal Dominant 		0.900 GeneticVariation disease UNIPROT Ophthalmological features associated with COL4A1 mutations. 20385946 2010
CUI: C4551998
Disease: Porencephaly, Type 1, Autosomal Dominant
Porencephaly, Type 1, Autosomal Dominant 		0.900 GeneticVariation disease UNIPROT A dominantly inherited mutation in collagen IV A1 (COL4A1) causing childhood onset stroke without porencephaly. 19477666 2010
CUI: C4551998
Disease: Porencephaly, Type 1, Autosomal Dominant
Porencephaly, Type 1, Autosomal Dominant 		0.900 GeneticVariation disease UNIPROT COL4A1 mutation in two preterm siblings with antenatal onset of parenchymal hemorrhage. 19194877 2009
CUI: C4551998
Disease: Porencephaly, Type 1, Autosomal Dominant
Porencephaly, Type 1, Autosomal Dominant 		0.900 GeneticVariation disease UNIPROT COL4A1 mutation in a patient with sporadic, recurrent intracerebral hemorrhage. 17379824 2007
CUI: C4551998
Disease: Porencephaly, Type 1, Autosomal Dominant
Porencephaly, Type 1, Autosomal Dominant 		0.900 GeneticVariation disease UNIPROT COL4A1 mutation in Axenfeld-Rieger anomaly with leukoencephalopathy and stroke. 17696175 2007
CUI: C4551998
Disease: Porencephaly, Type 1, Autosomal Dominant
Porencephaly, Type 1, Autosomal Dominant 		0.900 Biomarker disease GENOMICS_ENGLAND Clinical and brain MRI follow-up study of a family with COL4A1 mutation. 17938367 2007
CUI: C4551998
Disease: Porencephaly, Type 1, Autosomal Dominant
Porencephaly, Type 1, Autosomal Dominant 		0.900 GeneticVariation disease UNIPROT Role of COL4A1 in small-vessel disease and hemorrhagic stroke. 16598045 2006
CUI: C4551998
Disease: Porencephaly, Type 1, Autosomal Dominant
Porencephaly, Type 1, Autosomal Dominant 		0.900 GeneticVariation disease UNIPROT Novel mutations in three families confirm a major role of COL4A1 in hereditary porencephaly. 16107487 2006
CUI: C4551998
Disease: Porencephaly, Type 1, Autosomal Dominant
Porencephaly, Type 1, Autosomal Dominant 		0.900 Biomarker disease MGD Role of COL4A1 in small-vessel disease and hemorrhagic stroke. 16598045 2006
CUI: C4551998
Disease: Porencephaly, Type 1, Autosomal Dominant
Porencephaly, Type 1, Autosomal Dominant 		0.900 GeneticVariation disease UNIPROT Mutations in Col4a1 cause perinatal cerebral hemorrhage and porencephaly. 15905400 2005
CUI: C4551998
Disease: Porencephaly, Type 1, Autosomal Dominant
Porencephaly, Type 1, Autosomal Dominant 		0.900 Biomarker disease MGD Mutations in Col4a1 cause perinatal cerebral hemorrhage and porencephaly. 15905400 2005
CUI: C4551998
Disease: Porencephaly, Type 1, Autosomal Dominant
Porencephaly, Type 1, Autosomal Dominant 		0.900 Biomarker disease GENOMICS_ENGLAND Total pericardiectomy for uremic pericarditis. 607595 1977
CUI: C4551998
Disease: Porencephaly, Type 1, Autosomal Dominant
Porencephaly, Type 1, Autosomal Dominant 		0.900 Biomarker disease CTD_human Total pericardiectomy for uremic pericarditis. 607595 1977
CUI: C4551998
Disease: Porencephaly, Type 1, Autosomal Dominant
Porencephaly, Type 1, Autosomal Dominant 		0.900 CausalMutation disease CLINVAR
CUI: C4551998
Disease: Porencephaly, Type 1, Autosomal Dominant
Porencephaly, Type 1, Autosomal Dominant 		0.900 GeneticVariation disease CLINVAR