Hemoglobinopathy

Disease Term Disease ID Gene Symbol Classification References Source
Hemoglobin F Disease C0019025 HBB Causal Pathogenic evidence from ClinVar 88735, 3021607, 6270663, 6280057, 16755567, 19050890, 23975182 ClinVar
CACNA1H Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 31542421 -
CAD Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 38827 -
DHODH Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 38827 -
EPO Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 16225658 -
HAMP Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 16755567 -
HBA2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 17292142 -
HBB-LCR Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
HBG1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 6210198, 24144231 -
HBG2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 19050890, 24144231, 25435729 -
KLF1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 20676099 -
LCN2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 16755567 -
TFR2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 16755567 -
TFRC Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 16755567 -
UMPS Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 38827 -
Hemoglobinopathies C0019045 HBB Causal Pathogenic evidence from ClinVar 1117598, 1384315, 1428943, 1520612, 1536956, 1686262, 1769663, 1814858, 1850955, 1974422, 1986379, 2014803, 2018842, 2901867, 3006832, 3403716, 3457470, 3780671, 3942130, 3955238, 5059650, 5773089, 5782115, 6086605, 6714226, 6733281, 6859036, 7158624, 7632967, 7860732, 8037185, 8081396, 8111050, 8199027, 8435318, 8619407, 8701949, 8980256, 9101280, 9101288, 9140720, 9401495, 9495372, 10081984, 10490144, 10815781, 10840054, 11722417, 11857738, 11857746, 12144056, 12368169, 12403498, 12709369, 12752111, 12779277, 12955718, 14734204, 15108284, 15315794, 15481885, 15481896, 15761692, 16987801, 17008283, 17949282, 18096416, 18294253, 18339318, 18954999, 18976160, 19254853, 19429541, 19437135, 19460936, 19486366, 20113284, 20132300, 20309827, 20395516, 20437613, 20524821, 20704537, 21119755, 21389146, 21423179, 21523319, 21599435, 21797703, 22074124, 22239493, 22392582, 23321370, 23383304, 23590658, 24450243, 24828949, 25089872, 25332589, 25408857, 26372288, 26635043, 27207683, 27821015, 27828729, 28366028, 2860384 ClinVar