Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1294
Gene Symbol: COL7A1
COL7A1 		0.730 Biomarker disease GENOMICS_ENGLAND Epidermolysis bullosa pruriginosa: a case with prominent histopathologic inflammation. 23616197 2013
Entrez Id: 1294
Gene Symbol: COL7A1
COL7A1 		0.730 GeneticVariation disease BEFREE This mutation represents the third report of a pathogenic COL7A1 mutation in TBDN. 16225626 2005
Entrez Id: 1294
Gene Symbol: COL7A1
COL7A1 		0.730 Biomarker disease GENOMICS_ENGLAND Esophageal stenosis in childhood: dystrophic epidermolysis bullosa without skin blistering due to collagen VII mutations. 11781296 2002
Entrez Id: 1294
Gene Symbol: COL7A1
COL7A1 		0.730 GeneticVariation disease UNIPROT We now report a TBDN patient who is compound heterozygous for a recessive and a dominant glycine substitution mutation in COL7A1. 9856844 1998
Entrez Id: 1294
Gene Symbol: COL7A1
COL7A1 		0.730 GeneticVariation disease BEFREE We now report a TBDN patient who is compound heterozygous for a recessive and a dominant glycine substitution mutation in COL7A1. 9856844 1998
Entrez Id: 1294
Gene Symbol: COL7A1
COL7A1 		0.730 GeneticVariation disease BEFREE In this study, we report a G-to-C transversion mutation in the last nucleotide of intron 35 of the type VII collagen gene (COL7A1) in a family with autosomal dominant TBDN in three generations. 9406826 1997
Entrez Id: 1294
Gene Symbol: COL7A1
COL7A1 		0.730 GermlineCausalMutation disease ORPHANET
Entrez Id: 1294
Gene Symbol: COL7A1
COL7A1 		0.730 CausalMutation disease CLINVAR
Entrez Id: 1294
Gene Symbol: COL7A1
COL7A1 		0.730 GeneticVariation disease CLINVAR
Entrez Id: 1294
Gene Symbol: COL7A1
COL7A1 		0.730 Biomarker disease CTD_human