Gene: COL4A1 ×
Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1282
Gene Symbol: COL4A1
COL4A1 		0.420 GeneticVariation disease BEFREE A 4-year-old girl was COL4A1 mutation-positive and suffered from drug-resistant epilepsy, hemiplegia, and developmental delay. 27916450 2017
Entrez Id: 1282
Gene Symbol: COL4A1
COL4A1 		0.420 GeneticVariation disease BEFREE COL4A1 mutations disrupt the integrity of vascular basement membranes, so predisposing to a broad spectrum of disorders including periventricular leucomalacia, haemorrhagic stroke, aneurysm formation, epilepsy and developmental delay. 24864020 2014
Entrez Id: 1282
Gene Symbol: COL4A1
COL4A1 		0.420 Biomarker disease GENOMICS_ENGLAND Clinical and brain MRI follow-up study of a family with COL4A1 mutation. 17938367 2007
Entrez Id: 1282
Gene Symbol: COL4A1
COL4A1 		0.420 Biomarker disease HPO