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| Entry | Name | Description | Category | Pathway | Gene |
|---|---|---|---|---|---|
| H00106 | Complement regulatory protein defects | ... Only a single case of CD59 deficiency has been reported and this individual developed a paroxysmal nocturnal haemoglobinuria(PNH)-like illness. In contrast, deficiency of DAF is not associated with haemolytic ... | Primary immunodeficiency |
SERPING1 [HSA:710] [KO:K04001] C4BPA [HSA:722] [KO:K04002] C4BPB [HSA:725] [KO:K04003] CFI [HSA:3426] [KO:K01333] CD55 [HSA:1604] [KO:K04006] CD59 [HSA:966] [KO:K04008] |
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| H00807 | Nocturnal frontal lobe epilepsy | Nocturnal frontal lobe epilepsy (ENFL) is characterized by nocturnal, frequent, brief and stereotypic seizures. Ictal video electroencephalographic (EEG) studies have revealed partial seizures originating ... | Nervous system disease |
(ENFL1) CHRNA4 [HSA:1137] [KO:K04806] (ENFL3) CHRNB2 [HSA:1141] [KO:K04813] (ENFL4) CHRNA2 [HSA:1135] [KO:K04804] (ENFL5) KCNT1 [HSA:57582] [KO:K04946] |
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| H01053 | Paroxysmal nocturnal hemoglobinuria | Paroxysmal nocturnal hemoglobinuria (PNH) is an uncommon intravascular hemolytic anemia that results from the clonal expansion of hematopoietic stem cells harboring somatic mutations in an X-linked gene ... | Hematologic disease |
(PNH1) PIGA [HSA:5277] [KO:K03857] (PNH2) PIGT [HSA:51604] [KO:K05292] |
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| H01597 |
Restless legs syndrome Willis Ekbom disease |
... move them (akathisia). These symptoms occur predominantly at rest and worsen at night, resulting in nocturnal insomnia and chronic sleep deprivation. The prevalence of RLS increases with age and appears ... | Nervous system disease | ||
| H01609 | Insomnia | ... are difficulty initiating sleep (sleep-onset insomnia), difficulty maintaining sleep due to prolonged nocturnal awakenings (sleep-maintenance insomnia), early morning awakenings, and excessive daytime sleepiness ... | Nervous system disease | ||
| H01965 |
Miyoshi muscular dystrophy Miyoshi myopathy |
... the inability to toe walk. Miyoshi muscular dystrophy 1 (MMD1) is caused by mutations in the dysferlin gene. Recently, anoctamin 5 (ANO5) was also identified, causing Miyoshi muscular dystrophy 3 (MMD3). | Nervous system disease; Musculoskeletal disease |
(MMD1) DYSF [HSA:8291] [KO:K18261] (MMD3) ANO5 [HSA:203859] [KO:K19480] |
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