Source: GENOMICS_ENGLAND

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 3691
Gene Symbol: ITGB4
ITGB4
CUI: C1856934
Disease: Epidermolysis bullosa with pyloric atresia
Epidermolysis bullosa with pyloric atresia 		1.000 Biomarker GENOMICS_ENGLAND Mutations in the genes encoding subunit polypeptides of the alpha 6 beta 4 integrin (ITGA6 and ITGB4) have been demonstrated in EB-PA patients. 11328943

2001
Entrez Id: 3691
Gene Symbol: ITGB4
ITGB4
CUI: C1856934
Disease: Epidermolysis bullosa with pyloric atresia
Epidermolysis bullosa with pyloric atresia 		1.000 Biomarker GENOMICS_ENGLAND Congenital focal segmental glomerulosclerosis associated with beta4 integrin mutation and epidermolysis bullosa. 10873890

2000
Entrez Id: 3691
Gene Symbol: ITGB4
ITGB4
CUI: C1856934
Disease: Epidermolysis bullosa with pyloric atresia
Epidermolysis bullosa with pyloric atresia 		1.000 Biomarker GENOMICS_ENGLAND A homozygous missense mutation in the cytoplasmic tail of beta4 integrin, G931D, that disrupts hemidesmosome assembly and underlies Non-Herlitz junctional epidermolysis bullosa without pyloric atresia? 10792571

2000
Entrez Id: 3691
Gene Symbol: ITGB4
ITGB4
CUI: C1856934
Disease: Epidermolysis bullosa with pyloric atresia
Epidermolysis bullosa with pyloric atresia 		1.000 Biomarker GENOMICS_ENGLAND Splicing modulation of integrin beta4 pre-mRNA carrying a branch point mutation underlies epidermolysis bullosa with pyloric atresia undergoing spontaneous amelioration with ageing. 10484780

1999
Entrez Id: 3691
Gene Symbol: ITGB4
ITGB4
CUI: C1856934
Disease: Epidermolysis bullosa with pyloric atresia
Epidermolysis bullosa with pyloric atresia 		1.000 Biomarker GENOMICS_ENGLAND

Entrez Id: 3691
Gene Symbol: ITGB4
ITGB4
CUI: C0268374
Disease: Adult junctional epidermolysis bullosa (disorder)
Adult junctional epidermolysis bullosa (disorder) 		0.900 Biomarker GENOMICS_ENGLAND A homozygous missense mutation in the cytoplasmic tail of beta4 integrin, G931D, that disrupts hemidesmosome assembly and underlies Non-Herlitz junctional epidermolysis bullosa without pyloric atresia? 10792571

2000
Entrez Id: 3691
Gene Symbol: ITGB4
ITGB4
CUI: C0268374
Disease: Adult junctional epidermolysis bullosa (disorder)
Adult junctional epidermolysis bullosa (disorder) 		0.900 Biomarker GENOMICS_ENGLAND Splicing modulation of integrin beta4 pre-mRNA carrying a branch point mutation underlies epidermolysis bullosa with pyloric atresia undergoing spontaneous amelioration with ageing. 10484780

1999
Entrez Id: 3691
Gene Symbol: ITGB4
ITGB4
CUI: C0268374
Disease: Adult junctional epidermolysis bullosa (disorder)
Adult junctional epidermolysis bullosa (disorder) 		0.900 Biomarker GENOMICS_ENGLAND

Entrez Id: 3691
Gene Symbol: ITGB4
ITGB4
CUI: C0002452
Disease: Amelogenesis Imperfecta
Amelogenesis Imperfecta 		0.300 Biomarker GENOMICS_ENGLAND