Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1282
Gene Symbol: COL4A1
COL4A1
0.420 Biomarker phenotype GENOMICS_ENGLAND Novel COL4A1 mutations associated with HANAC syndrome: a role for the triple helical CB3[IV] domain. 20818663 2010
Entrez Id: 1282
Gene Symbol: COL4A1
COL4A1
0.420 Biomarker phenotype GENOMICS_ENGLAND [Hereditary angiopathy with nephropathy, aneurysms and muscle cramps (HANAC): a new basement membrane-disease associated with mutations of the COL4A1 gene]. 19238787 2008
Entrez Id: 1282
Gene Symbol: COL4A1
COL4A1
0.420 GeneticVariation phenotype LHGDN COL4A1 may be a candidate gene in unexplained familial syndromes with autosomal dominant hematuria, cystic kidney disease, intracranial aneurysms, and muscle cramps. 18160688 2007
Entrez Id: 1282
Gene Symbol: COL4A1
COL4A1
0.420 Biomarker phenotype GENOMICS_ENGLAND COL4A1 may be a candidate gene in unexplained familial syndromes with autosomal dominant hematuria, cystic kidney disease, intracranial aneurysms, and muscle cramps. 18160688 2007
Entrez Id: 1282
Gene Symbol: COL4A1
COL4A1
0.420 GeneticVariation phenotype BEFREE Haplotype analysis demonstrated that haematuria segregated with the COL4A1/COL4A2 locus in only two small families (2/9, 22%). 17216253 2007
Entrez Id: 1282
Gene Symbol: COL4A1
COL4A1
0.420 Biomarker phenotype HPO