Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
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|
0.800 | GeneticVariation | UNIPROT | Hypomorphic mutation in TTC7A causes combined immunodeficiency with mild structural intestinal defects. | 25745186 | 2015 |
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0.800 | GeneticVariation | UNIPROT | Compound heterozygous mutations in TTC7A cause familial multiple intestinal atresias and severe combined immunodeficiency. | 25534311 | 2015 |
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|
0.800 | GeneticVariation | UNIPROT | Tetratricopeptide repeat domain 7A (TTC7A) mutation in a newborn with multiple intestinal atresia and combined immunodeficiency. | 24931897 | 2014 |
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|
0.800 | GeneticVariation | UNIPROT | Mutations in tetratricopeptide repeat domain 7A result in a severe form of very early onset inflammatory bowel disease. | 24417819 | 2014 |
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|
0.800 | 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 |
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|
0.800 | GeneticVariation | UNIPROT | TTC7A mutations disrupt intestinal epithelial apicobasal polarity. | 24292712 | 2014 |
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|
0.800 | GeneticVariation | UNIPROT | Whole-exome sequencing identifies tetratricopeptide repeat domain 7A (TTC7A) mutations for combined immunodeficiency with intestinal atresias. | 23830146 | 2013 |
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|
0.800 | GeneticVariation | UNIPROT | Exome sequencing identifies mutations in the gene TTC7A in French-Canadian cases with hereditary multiple intestinal atresia. | 23423984 | 2013 |
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|
T | 0.800 | CausalMutation | CLINVAR |