Source: UNIPROT

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1282
Gene Symbol: COL4A1
COL4A1
CUI: C4551998
Disease: Porencephaly, Type 1, Autosomal Dominant
Porencephaly, Type 1, Autosomal Dominant 		0.900 GeneticVariation UNIPROT Whole exome analysis identifies dominant COL4A1 mutations in patients with complex ocular phenotypes involving microphthalmia. 24628545

2014
Entrez Id: 1282
Gene Symbol: COL4A1
COL4A1
CUI: C4551998
Disease: Porencephaly, Type 1, Autosomal Dominant
Porencephaly, Type 1, Autosomal Dominant 		0.900 GeneticVariation UNIPROT Variants of anterior segment dysgenesis and cerebral involvement in a large family with a novel COL4A1 mutation. 23394911

2013
Entrez Id: 1282
Gene Symbol: COL4A1
COL4A1
CUI: C4551998
Disease: Porencephaly, Type 1, Autosomal Dominant
Porencephaly, Type 1, Autosomal Dominant 		0.900 GeneticVariation UNIPROT Childhood presentation of COL4A1 mutations. 22574627

2012
Entrez Id: 1282
Gene Symbol: COL4A1
COL4A1
CUI: C4551998
Disease: Porencephaly, Type 1, Autosomal Dominant
Porencephaly, Type 1, Autosomal Dominant 		0.900 GeneticVariation UNIPROT Ophthalmological features associated with COL4A1 mutations. 20385946

2010
Entrez Id: 1282
Gene Symbol: COL4A1
COL4A1
CUI: C4551998
Disease: Porencephaly, Type 1, Autosomal Dominant
Porencephaly, Type 1, Autosomal Dominant 		0.900 GeneticVariation UNIPROT A dominantly inherited mutation in collagen IV A1 (COL4A1) causing childhood onset stroke without porencephaly. 19477666

2010
Entrez Id: 1282
Gene Symbol: COL4A1
COL4A1
CUI: C4551998
Disease: Porencephaly, Type 1, Autosomal Dominant
Porencephaly, Type 1, Autosomal Dominant 		0.900 GeneticVariation UNIPROT COL4A1 mutation in two preterm siblings with antenatal onset of parenchymal hemorrhage. 19194877

2009
Entrez Id: 1282
Gene Symbol: COL4A1
COL4A1
CUI: C4551998
Disease: Porencephaly, Type 1, Autosomal Dominant
Porencephaly, Type 1, Autosomal Dominant 		0.900 GeneticVariation UNIPROT COL4A1 mutation in a patient with sporadic, recurrent intracerebral hemorrhage. 17379824

2007
Entrez Id: 1282
Gene Symbol: COL4A1
COL4A1
CUI: C4551998
Disease: Porencephaly, Type 1, Autosomal Dominant
Porencephaly, Type 1, Autosomal Dominant 		0.900 GeneticVariation UNIPROT COL4A1 mutation in Axenfeld-Rieger anomaly with leukoencephalopathy and stroke. 17696175

2007
Entrez Id: 1282
Gene Symbol: COL4A1
COL4A1
CUI: C4551998
Disease: Porencephaly, Type 1, Autosomal Dominant
Porencephaly, Type 1, Autosomal Dominant 		0.900 GeneticVariation UNIPROT Role of COL4A1 in small-vessel disease and hemorrhagic stroke. 16598045

2006
Entrez Id: 1282
Gene Symbol: COL4A1
COL4A1
CUI: C4551998
Disease: Porencephaly, Type 1, Autosomal Dominant
Porencephaly, Type 1, Autosomal Dominant 		0.900 GeneticVariation UNIPROT Novel mutations in three families confirm a major role of COL4A1 in hereditary porencephaly. 16107487

2006
Entrez Id: 1282
Gene Symbol: COL4A1
COL4A1
CUI: C4551998
Disease: Porencephaly, Type 1, Autosomal Dominant
Porencephaly, Type 1, Autosomal Dominant 		0.900 GeneticVariation UNIPROT Mutations in Col4a1 cause perinatal cerebral hemorrhage and porencephaly. 15905400

2005