Beta thalassemia

Disease Term Disease ID Gene Symbol Classification References Source
beta Thalassemia C0005283 HBA2 Causal Pathogenic evidence from ClinVar 17292142 ClinVar
HBB Causal Pathogenic evidence from ClinVar 88735, 1177278, 1301930, 1374896, 1376298, 1390250, 1428943, 1463768, 1483699, 1515453, 1517107, 1517108, 1517110, 1517111, 1520612, 1545796, 1581247, 1586746, 1634236, 1634368, 1698102, 1705411, 1728311, 1734721, 1740317, 1769663, 1850955, 1856830, 1897518, 1917531, 1954392, 1967205, 1971109, 1974422, 1986379, 2001456, 2005117, 2014803, 2070092, 2123063, 2200760, 2207008, 2272840, 2283297, 2283303, 2291577, 2306523, 2346726, 2375910, 2375912, 2393712, 2399911, 2439149, 2446680, 2458145, 2525253, 2563949, 2582106, 2606727, 2703241, 2713503, 2736244, 2775294, 2822177, 2837728, 2875755, 2888754, 2897787, 2915972, 2917193, 2920213, 2987224, 2987809, 3006832, 3014870, 3021139, 3021607, 3408672, 3417300, 3457470, 3557998, 3671081, 3683554, 3780671, 3828533, 3957694, 4018033, 4078867, 4808644, 5672850, 6086605, 6101206, 6166632, 6188062, 6190800, 6264391, 6264477, 6270663, 6280057, 6280138, 6292840, 6298782, 6308558, 6310991, 6457059, 6572978, 6583683, 6583702, 6585381, 6585831, 6714226, 6733281, 6826539, 6985481 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 -
HBB-LCR Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
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 -
Beta thalassemia intermedia C0472767 HBB Causal Pathogenic evidence from ClinVar 21886666 ClinVar
Beta Thalassemia, Dominant Inclusion Body Type C1858990 HBB Causal Pathogenic evidence from ClinVar 20067565, 21886666 ClinVar
Beta-thalassemia intermedia 231222 HBB Causal Pathogenic evidence from ClinVar - ClinVar
BETA-THALASSEMIA INTERMEDIA, DOMINANT C4310973 HBB Causal Pathogenic evidence from ClinVar - ClinVar
Beta-thalassemia major 231214 HBB Causal Pathogenic evidence from ClinVar - ClinVar
beta^+^ Thalassemia C3841475 HBB Causal Pathogenic evidence from ClinVar - ClinVar
beta^0^ Thalassemia C0271980 HBB Causal Pathogenic evidence from ClinVar - ClinVar
Dominant beta-thalassemia 231226, C4274391 HBB Causal Pathogenic evidence from ClinVar - ClinVar