Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1282
Gene Symbol: COL4A1
COL4A1
0.100 CausalMutation group CLINVAR High-throughput genetic characterization of a cohort of Brugada syndrome patients. 26220970 2015
Entrez Id: 1282
Gene Symbol: COL4A1
COL4A1
0.100 GeneticVariation group CLINVAR High-throughput genetic characterization of a cohort of Brugada syndrome patients. 26220970 2015
Entrez Id: 1282
Gene Symbol: COL4A1
COL4A1
0.100 GeneticVariation group CLINVAR 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
0.100 CausalMutation group CLINVAR Novel COL4A1 mutations cause cerebral small vessel disease by haploinsufficiency. 23065703 2013
Entrez Id: 1282
Gene Symbol: COL4A1
COL4A1
0.100 CausalMutation group CLINVAR 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
0.100 GeneticVariation group CLINVAR Novel COL4A1 mutations cause cerebral small vessel disease by haploinsufficiency. 23065703 2013
Entrez Id: 1282
Gene Symbol: COL4A1
COL4A1
0.100 CausalMutation group CLINVAR Childhood presentation of COL4A1 mutations. 22574627 2012
Entrez Id: 1282
Gene Symbol: COL4A1
COL4A1
0.100 GeneticVariation group CLINVAR Childhood presentation of COL4A1 mutations. 22574627 2012
Entrez Id: 1282
Gene Symbol: COL4A1
COL4A1
0.100 GeneticVariation group CLINVAR 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
0.100 CausalMutation group CLINVAR 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
0.100 GeneticVariation group CLINVAR COL4A1 mutation in two preterm siblings with antenatal onset of parenchymal hemorrhage. 19194877 2009
Entrez Id: 1282
Gene Symbol: COL4A1
COL4A1
0.100 CausalMutation group CLINVAR COL4A1 mutation in two preterm siblings with antenatal onset of parenchymal hemorrhage. 19194877 2009
Entrez Id: 1282
Gene Symbol: COL4A1
COL4A1
0.100 CausalMutation group CLINVAR COL4A1 mutation in preterm intraventricular hemorrhage. 19840616 2009
Entrez Id: 1282
Gene Symbol: COL4A1
COL4A1
0.100 GeneticVariation group CLINVAR COL4A1 mutation in preterm intraventricular hemorrhage. 19840616 2009
Entrez Id: 1282
Gene Symbol: COL4A1
COL4A1
0.100 CausalMutation group CLINVAR Cerebrovascular disease related to COL4A1 mutations in HANAC syndrome. 19949034 2009
Entrez Id: 1282
Gene Symbol: COL4A1
COL4A1
0.100 GeneticVariation group CLINVAR Cerebrovascular disease related to COL4A1 mutations in HANAC syndrome. 19949034 2009
Entrez Id: 1282
Gene Symbol: COL4A1
COL4A1
0.100 GeneticVariation group CLINVAR Clinical and brain MRI follow-up study of a family with COL4A1 mutation. 17938367 2007
Entrez Id: 1282
Gene Symbol: COL4A1
COL4A1
0.100 CausalMutation group CLINVAR COL4A1 mutation in Axenfeld-Rieger anomaly with leukoencephalopathy and stroke. 17696175 2007
Entrez Id: 1282
Gene Symbol: COL4A1
COL4A1
0.100 GeneticVariation group CLINVAR COL4A1 mutation in Axenfeld-Rieger anomaly with leukoencephalopathy and stroke. 17696175 2007
Entrez Id: 1282
Gene Symbol: COL4A1
COL4A1
0.100 CausalMutation group CLINVAR COL4A1 mutations and hereditary angiopathy, nephropathy, aneurysms, and muscle cramps. 18160688 2007
Entrez Id: 1282
Gene Symbol: COL4A1
COL4A1
0.100 GeneticVariation group CLINVAR COL4A1 mutations and hereditary angiopathy, nephropathy, aneurysms, and muscle cramps. 18160688 2007
Entrez Id: 1282
Gene Symbol: COL4A1
COL4A1
0.100 CausalMutation group CLINVAR Clinical and brain MRI follow-up study of a family with COL4A1 mutation. 17938367 2007
Entrez Id: 1282
Gene Symbol: COL4A1
COL4A1
0.100 CausalMutation group CLINVAR Role of COL4A1 in small-vessel disease and hemorrhagic stroke. 16598045 2006
Entrez Id: 1282
Gene Symbol: COL4A1
COL4A1
0.100 GeneticVariation group CLINVAR Role of COL4A1 in small-vessel disease and hemorrhagic stroke. 16598045 2006
Entrez Id: 1282
Gene Symbol: COL4A1
COL4A1
0.100 CausalMutation group CLINVAR Neonatal porencephaly and adult stroke related to mutations in collagen IV A1. 16374828 2006