Search Result |
Top |
| Entry | Name | Description | Category | Pathway | Gene |
|---|---|---|---|---|---|
| H00100 | Neutropenic disorders | Neutropenias represents a series of potentially life-threatening disorders characterised by a reduction in circulating neutrophils. Since neutrophils play a major role in host defense against bacteria ... | Primary immunodeficiency |
(SCN1) ELANE [HSA:1991] [KO:K01327] (SCN2/NI-CINA) GFI1 [HSA:2672] [KO:K09223] (SCN3) HAX1 [HSA:10456] [KO:K16220] (SCN4) G6PC3 [HSA:92579] [KO:K01084] (SCN5) VPS45 [HSA:11311] [KO:K12479] (SCN6) JAGN1 [HSA:84522] [KO:K25789] (SCN7) CSF3R [HSA:1441] [KO:K05061] (SCN8) SRP54 [HSA:6729] [KO:K03106] (SCN9) CLPB [HSA:81570] [KO:K03695] (SCN10) SRP68 [HSA:6730] [KO:K03107] (SCN11) SEC61A1 [HSA:29927] [KO:K10956] (SCNX) WAS [HSA:7454] [KO:K05747] |
|
| H00754 | 3-Methylglutaconic aciduria | 3-Methylglutaconic aciduria (MGCA) is a group of metabolic disorders characterized by increased urinary excretion of 3-methylglutaconic acid and 3-methylglutaric acid. Nine distinct forms of MGCA have ... | Inherited metabolic disorder |
(MGCA1) AUH [HSA:549] [KO:K05607] (MGCA2) TAFAZZIN [HSA:6901] [KO:K13511] (MGCA3) OPA3 [HSA:80207] [KO:K23166] (MGCA5) DNAJC19 [HSA:131118] [KO:K09539] (MGCA6) SERAC1 [HSA:84947] [KO:K23504] (MGCA7A/7B) CLPB [HSA:81570] [KO:K03695] (MGCA8) HTRA2 [HSA:27429] [KO:K08669] (MGCA9) TIMM50 [HSA:92609] [KO:K17496] |
| [ KEGG | DISEASE | DRUG | MEDICUS ] |