Source: GENOMICS_ENGLAND

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 Biomarker GENOMICS_ENGLAND Further refinement of COL4A1 and COL4A2 related cortical malformations. 30315939

2018
Entrez Id: 1282
Gene Symbol: COL4A1
COL4A1
CUI: C4551998
Disease: Porencephaly, Type 1, Autosomal Dominant
Porencephaly, Type 1, Autosomal Dominant 		0.900 Biomarker GENOMICS_ENGLAND A practical approach to diagnosing adult onset leukodystrophies. 24357685

2014
Entrez Id: 1282
Gene Symbol: COL4A1
COL4A1
CUI: C4551998
Disease: Porencephaly, Type 1, Autosomal Dominant
Porencephaly, Type 1, Autosomal Dominant 		0.900 Biomarker GENOMICS_ENGLAND 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 Biomarker GENOMICS_ENGLAND Phenotypic spectrum of COL4A1 mutations: porencephaly to schizencephaly. 23225343

2013
Entrez Id: 1282
Gene Symbol: COL4A1
COL4A1
CUI: C4551998
Disease: Porencephaly, Type 1, Autosomal Dominant
Porencephaly, Type 1, Autosomal Dominant 		0.900 Biomarker GENOMICS_ENGLAND COL4A1 mutations associated with a characteristic pattern of intracranial calcification. 22134833

2011
Entrez Id: 1282
Gene Symbol: COL4A1
COL4A1
CUI: C4551998
Disease: Porencephaly, Type 1, Autosomal Dominant
Porencephaly, Type 1, Autosomal Dominant 		0.900 Biomarker GENOMICS_ENGLAND COL4A1 mutations cause ocular dysgenesis, neuronal localization defects, and myopathy in mice and Walker-Warburg syndrome in humans. 21625620

2011
Entrez Id: 1282
Gene Symbol: COL4A1
COL4A1
CUI: C4551998
Disease: Porencephaly, Type 1, Autosomal Dominant
Porencephaly, Type 1, Autosomal Dominant 		0.900 Biomarker GENOMICS_ENGLAND Clinical and brain MRI follow-up study of a family with COL4A1 mutation. 17938367

2007
Entrez Id: 1282
Gene Symbol: COL4A1
COL4A1
CUI: C4551998
Disease: Porencephaly, Type 1, Autosomal Dominant
Porencephaly, Type 1, Autosomal Dominant 		0.900 Biomarker GENOMICS_ENGLAND Total pericardiectomy for uremic pericarditis. 607595

1977