Disease Term Disease ID Gene Symbol Classification References Source
Combined immunodeficiency-enteropathy spectrum 436252 TTC7A Causal Pathogenic evidence from ClinVar - ClinVar
Multiple gastrointestinal atresias (disorder) C0220744 TTC7A Causal Pathogenic evidence from ClinVar 23423984, 23830146, 24292712, 24417819, 24931897, 25174867, 25534311, 25546680, 25745186, 26938784, 27302973 ClinVar
ADA Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
STPG4 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 24417819, 26938784 -