Gene | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
---|---|---|---|---|---|---|---|---|---|---|---|
|
0.100 | CausalMutation | group | CLINVAR | COL4A1 mutations and hereditary angiopathy, nephropathy, aneurysms, and muscle cramps. | 18160688 | 2007 | ||||
|
0.100 | GeneticVariation | group | CLINVAR | Childhood presentation of COL4A1 mutations. | 22574627 | 2012 | ||||
|
0.100 | GeneticVariation | group | CLINVAR | COL4A1 mutations and hereditary angiopathy, nephropathy, aneurysms, and muscle cramps. | 18160688 | 2007 | ||||
|
0.100 | CausalMutation | group | CLINVAR | Cerebrovascular disease related to COL4A1 mutations in HANAC syndrome. | 19949034 | 2009 | ||||
|
0.100 | CausalMutation | group | CLINVAR | Clinical and brain MRI follow-up study of a family with COL4A1 mutation. | 17938367 | 2007 | ||||
|
0.100 | GeneticVariation | group | CLINVAR | Neonatal porencephaly and adult stroke related to mutations in collagen IV A1. | 16374828 | 2006 | ||||
|
0.100 | GeneticVariation | group | CLINVAR | Familial porencephalic white matter disease in two generations. | 6428250 | 1984 | ||||
|
0.100 | GeneticVariation | group | CLINVAR | Cerebrovascular disease related to COL4A1 mutations in HANAC syndrome. | 19949034 | 2009 | ||||
|
0.100 | CausalMutation | group | CLINVAR | Autosomal-dominant familial hematuria with retinal arteriolar tortuosity and contractures: a novel syndrome. | 15882279 | 2005 | ||||
|
0.100 | GeneticVariation | group | CLINVAR | Novel COL4A1 mutations cause cerebral small vessel disease by haploinsufficiency. | 23065703 | 2013 | ||||
|
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 |