Disease Term Disease ID Gene Symbol Classification References Source
Alpha thalassemia intermedia C1260396 HBA1 Causal Pathogenic evidence from ClinVar - ClinVar
HBA2 Causal Pathogenic evidence from ClinVar - ClinVar
alpha-Thalassemia C0002312 HBA1 Causal Pathogenic evidence from ClinVar 2050764, 16798638, 23794144 ClinVar
HBA2 Causal Pathogenic evidence from ClinVar 2050764, 2298455, 4944483, 6725554, 7327587, 12393486, 15182556, 16798638, 17164653, 20507641, 26757782 ClinVar
HBB Causal Pathogenic evidence from ClinVar - ClinVar
Alpha trait thalassemia C0472762 HBA2 Causal Pathogenic evidence from ClinVar - ClinVar
ALPHA-THALASSEMIA, HMONG TYPE C4016158 HBA2 Causal Pathogenic evidence from ClinVar - ClinVar
alpha^+^ Thalassemia C1456873 HBA2 Causal Pathogenic evidence from ClinVar - ClinVar