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| Entry | Name | Description | Category | Pathway | Gene |
|---|---|---|---|---|---|
| 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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| H00664 | Anemia due to disorders of glycolytic enzymes | Anemia due to disorders of glycolytic enzymes is a group of red cell disorders caused by inherited abnormality of glycolytic enzymes. Neurological phenotypes have been found to be associated only with ... | Hematologic disease |
HK1 [HSA:3098] [KO:K00844] PGK1 [HSA:5230] [KO:K00927] TPI1 [HSA:7167] [KO:K01803] GPI [HSA:2821] [KO:K01810] BPGM [HSA:669] [KO:K01837] |
| [ KEGG | DISEASE | DRUG | MEDICUS ] |