Gene | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
---|---|---|---|---|---|---|---|---|---|---|---|
|
0.570 | GeneticVariation | disease | BEFREE | A Nonlethal Case of Junctional Epidermolysis Bullosa and Congenital Pyloric Atresia: Compound Heterozygosity in a Patient with a Novel Integrin Beta 4 Gene Mutation. | 29198538 | 2018 | ||||
|
0.570 | GeneticVariation | disease | BEFREE | Splicing abnormality of integrin β4 gene (ITGB4) due to nucleotide substitutions far from splice site underlies pyloric atresia-junctional epidermolysis bullosa syndrome. | 25728941 | 2015 | ||||
|
0.570 | GeneticVariation | disease | BEFREE | A founder effect of c.1938delC in ITGB4 underlies junctional epidermolysis bullosa and its application for prenatal testing. | 20955205 | 2011 | ||||
|
0.570 | GeneticVariation | disease | BEFREE | Differential expression of pyloric atresia in junctional epidermolysis bullosa with ITGB4 mutations suggests that pyloric atresia is due to factors other than the mutations and not predictive of a poor outcome: three novel mutations and a review of the literature. | 18779879 | 2008 | ||||
|
0.570 | GeneticVariation | disease | BEFREE | Genomic organization of the integrin beta 4 gene (ITGB4): a homozygous splice-site mutation in a patient with junctional epidermolysis bullosa associated with pyloric atresia. | 9194858 | 1997 | ||||
|
0.570 | AlteredExpression | disease | BEFREE | Hemidesmosome assembly assessed by expression of a wild-type integrin beta 4 cDNA in junctional epidermolysis bullosa keratinocytes. | 9389789 | 1997 | ||||
|
0.570 | GeneticVariation | disease | BEFREE | Novel ITGB4 mutations in a patient with junctional epidermolysis bullosa-pyloric atresia syndrome and altered basement membrane zone immunofluorescence for the alpha6beta4 integrin. | 9182827 | 1997 | ||||
|
0.570 | Biomarker | disease | MGD | Beta4 integrin is required for hemidesmosome formation, cell adhesion and cell survival. | 8707838 | 1996 | ||||
|
0.570 | Biomarker | disease | CTD_human | Integrin beta 4 mutations associated with junctional epidermolysis bullosa with pyloric atresia. | 7545057 | 1995 |