Disease Term Disease ID Gene Symbol Classification References Source
Sulfite oxidase deficiency C0268624 GPHN Causal Pathogenic evidence from ClinVar - ClinVar
MOCS1 Causal Pathogenic evidence from ClinVar - ClinVar
SUOX Causal Pathogenic evidence from ClinVar 9050047, 9600976, 12112661, 15952210, 16140720, 27289259, 28725568, 28980090 ClinVar
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C 308400 GPHN Causal Pathogenic evidence from ClinVar - ClinVar
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A 308386 MOCS1 Causal Pathogenic evidence from ClinVar - ClinVar
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B 308393 MOCS2 Causal Pathogenic evidence from ClinVar - ClinVar