Acatalasia

Disease Term Disease ID Gene Symbol Classification References Source
Acatalasemia 926 CAT Causal Pathogenic evidence from ClinVar - ClinVar
Acatalasemia Japanese type C2936847 CAT Causal Pathogenic evidence from ClinVar 1551654, 2308162, 11001624, 11117918, 26074427 ClinVar
Acatalasemia Swiss type C2936848 CAT Causal Pathogenic evidence from ClinVar 1551654, 2308162, 11001624, 11117918, 26074427 ClinVar
Acatalasia C0268419 CAT Causal Pathogenic evidence from ClinVar 1551654, 2308162, 11001624, 11117918, 25772105, 26074427, 27604308 ClinVar
Catalase deficiency C2931868 CAT Causal Pathogenic evidence from ClinVar 1551654, 2308162, 11001624, 11117918, 26074427 ClinVar
Hypocatalasemia C0752048 CAT Causal Pathogenic evidence from ClinVar 1551654, 2308162, 11001624, 11117918, 26074427 ClinVar