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| Entry | Name | Description | Category | Pathway | Gene |
|---|---|---|---|---|---|
| H01725 | Primary immunodeficiency disease | Primary immunodeficiency diseases (PIDs) are genetically determined disorders of the immune system resulting in greatly enhanced susceptibility to infectious disease, autoimmunity and malignancy. Many ... | Immune system disease | hsa05340 Primary immunodeficiency |
(IMD101) POLR3F [HSA:10621] [KO:K03025] (IMD102) SASH3 [HSA:54440] [KO:K23706] (IMD109) TNFRSF9 [HSA:3604] [KO:K05146] (IMD111/HATIS) DPP9 [HSA:91039] [KO:K08656] (IMD113) ARPC5 [HSA:10092] [KO:K05754] (IMD114) SLC19A1 [HSA:6573] [KO:K14609] (IMD118) MCTS1 [HSA:28985] [KO:K07575] |
| H02699 | Folate-responsive megaloblastic anemia | Folate-responsive megaloblastic anemia (MEGAF) is a severe recurrent megaloblastic anemia caused by mutations in SLC19A1. It has been reported that the laboratory abnormalities and clinical signs were normalized only ... | Inherited metabolic disorder | SLC19A1 [HSA:6573] [KO:K14609] |
| [ KEGG | DISEASE | DRUG | MEDICUS ] |