Disease Term Disease ID Gene Symbol Classification References Source
TRICHOHEPATOENTERIC SYNDROME 1 C4551982 AGK Causal Pathogenic evidence from ClinVar - ClinVar
TTC37 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 20176027, 21120949, 28292286 -
TRICHOHEPATOENTERIC SYNDROME 2 C3281289 CYP21A2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
SKIV2L Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 22444670, 27537055, 28944135 -
Trichohepatoenteric Syndrome C1857276 SKIV2L Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 22444670, 23302111, 28944135 -
TTC37 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 20176027, 23302111, 28292286 -