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 COL4A1 mutations and hereditary angiopathy, nephropathy, aneurysms, and muscle cramps. 18160688 2007
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 and hereditary angiopathy, nephropathy, aneurysms, and muscle cramps. 18160688 2007
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 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 GeneticVariation group CLINVAR Neonatal porencephaly and adult stroke related to mutations in collagen IV A1. 16374828 2006
Entrez Id: 1282
Gene Symbol: COL4A1
COL4A1
0.100 GeneticVariation group CLINVAR Familial porencephalic white matter disease in two generations. 6428250 1984
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 CausalMutation group CLINVAR Autosomal-dominant familial hematuria with retinal arteriolar tortuosity and contractures: a novel syndrome. 15882279 2005
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 COL4A1 mutations cause ocular dysgenesis, neuronal localization defects, and myopathy in mice and Walker-Warburg syndrome in humans. 21625620 2011