Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs139010200
rs139010200
TTC7A ; STPG4
0.700 GeneticVariation UNIPROT Compound heterozygous mutations in TTC7A cause familial multiple intestinal atresias and severe combined immunodeficiency. 25534311

2015
dbSNP: rs139010200
rs139010200
TTC7A ; STPG4
0.700 GeneticVariation UNIPROT Hypomorphic mutation in TTC7A causes combined immunodeficiency with mild structural intestinal defects. 25745186

2015
dbSNP: rs139010200
rs139010200
TTC7A ; STPG4
0.700 GeneticVariation UNIPROT Mutations in tetratricopeptide repeat domain 7A result in a severe form of very early onset inflammatory bowel disease. 24417819

2014
dbSNP: rs139010200
rs139010200
TTC7A ; STPG4
0.700 GeneticVariation UNIPROT Tetratricopeptide repeat domain 7A (TTC7A) mutation in a newborn with multiple intestinal atresia and combined immunodeficiency. 24931897

2014
dbSNP: rs139010200
rs139010200
TTC7A ; STPG4
0.700 GeneticVariation UNIPROT Multiple intestinal atresia with combined immune deficiency related to TTC7A defect is a multiorgan pathology: study of a French-Canadian-based cohort. 25546680

2014
dbSNP: rs139010200
rs139010200
TTC7A ; STPG4
0.700 GeneticVariation UNIPROT TTC7A mutations disrupt intestinal epithelial apicobasal polarity. 24292712

2014
dbSNP: rs139010200
rs139010200
TTC7A ; STPG4
0.700 GeneticVariation UNIPROT Whole-exome sequencing identifies tetratricopeptide repeat domain 7A (TTC7A) mutations for combined immunodeficiency with intestinal atresias. 23830146

2013
dbSNP: rs139010200
rs139010200
TTC7A ; STPG4
0.700 GeneticVariation UNIPROT Exome sequencing identifies mutations in the gene TTC7A in French-Canadian cases with hereditary multiple intestinal atresia. 23423984

2013