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Entry Name Description Category Pathway Gene
H00228 Thalassemia Thalassemia is the most common hereditary blood disease caused by mutation of genes encoding hemoglobin alpha and beta chains. The anemia that is associated with thalassemia is caused by ineffective erythropoiesis ... Hematologic disease (Alpha) HBA1 [HSA:3039] [KO:K13822]
(Alpha) HBA2 [HSA:3040] [KO:K13822]
(Beta) HBB [HSA:3043] [KO:K13823]
(Beta) HBG1 [HSA:3047] [KO:K13824]
(Beta) HBG2 [HSA:3048] [KO:K13824]
(ATRX) ATRX [HSA:546] [KO:K10779]
H00235 Methemoglobinemia Hereditary methemoglobinemia is an autosomal recessive disorder characterized by NADH-cytochrome b5 reductase deficiency. Hematologic disease CYB5R3 [HSA:1727] [KO:K00326]
CYB5A [HSA:1528] [KO:K23490]
HBA1 [HSA:3039] [KO:K13822]
HBB [HSA:3043] [KO:K13823]
H00236 Congenital polycythemia
Familial erythrocytosis (ECYT) 		Congenital polycythemia or familial erythrocytosis includes a heterogeneous group of disorders with the common characteristic of an absolute increased red cell mass caused by inherited defects in hypoxia ... Hematologic disease (ECYT1) EPOR [HSA:2057] [KO:K05079]
(ECYT1) JAK2 [HSA:3717] [KO:K04447]
(ECYT1) SH2B3 [HSA:10019] [KO:K12459]
(ECYT2) VHL [HSA:7428] [KO:K03871]
(ECYT3) EGLN1 [HSA:54583] [KO:K09592]
(ECYT4) EPAS1 [HSA:2034] [KO:K09095]
(ECYT5) EPO [HSA:2056] [KO:K05437]
(ECYT6) HBB [HSA:3043] [KO:K13823]
(ECYT7) HBA1/2 [HSA:3039 3040] [KO:K13822]
(ECYT8) BPGM [HSA:669] [KO:K01837]
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