TTC7A, tetratricopeptide repeat domain 7A, 57217

N. diseases: 59; N. variants: 26
Disease: Enterocolitis ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0014356
Disease: Enterocolitis
Enterocolitis 		0.020 GeneticVariation disease BEFREE We identified compound heterozygote mutations in the Tetratricopeptide repeat domain 7 (TTC7A) gene in an infant from non-consanguineous parents with severe exfoliative apoptotic enterocolitis; we also detected TTC7A mutations in 2 unrelated families, each with 2 affected siblings. 24417819 2014
CUI: C0014356
Disease: Enterocolitis
Enterocolitis 		0.020 GeneticVariation disease BEFREE Mutations of the tetratricopeptide repeat domain 7A gene have been identified in patients with MIA and other related disorders, including MIA associated with combined immunodeficiency and very early onset inflammatory bowel disease with apoptotic enterocolitis. 25268403 2014