Disease Term Disease ID Gene Symbol Classification References Source
Transcobalamin I Deficiency C0342700 TCN1 Causal Pathogenic evidence from ClinVar - ClinVar
Transcobalamin deficiency 859 TCN2 Causal Pathogenic evidence from ClinVar - ClinVar
Transcobalamin II deficiency C0342701 TCN2 Causal Pathogenic evidence from ClinVar 7849710, 10518276, 18956254, 18956255, 20352340, 20607612, 24305960 ClinVar