Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 57217
Gene Symbol: TTC7A
TTC7A
0.120 GeneticVariation disease BEFREE The genetic analysis identified a homozygous c.53344_53347 mutation in the TTC7A gene compatible with MIA-SCID syndrome. 29879038 2018
Entrez Id: 57217
Gene Symbol: TTC7A
TTC7A
0.120 GeneticVariation disease BEFREE Compound heterozygous mutations in TTC7A cause familial multiple intestinal atresias and severe combined immunodeficiency. 25534311 2015
Entrez Id: 57217
Gene Symbol: TTC7A
TTC7A
0.120 Biomarker disease HPO