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| Entry | Name | Description | Category | Pathway | Gene |
|---|---|---|---|---|---|
| H00984 | MHC class I deficiency | ... on defective surface MHC expression. The mutations in the TAP subunits are one of the most common features of BLS type I. MHC I deficiency due to tapasin (TAPBP) deficiency was also discovered recently. | Immune system disease |
(MHC1D1) TAP1 [HSA:6890] [KO:K05653] (MHC1D2) TAP2 [HSA:6891] [KO:K05654] (MHC1D3) TAPBP [HSA:6892] [KO:K08058] (MHC1D4) B2M [HSA:567] [KO:K08055] |
| [ KEGG | DISEASE | DRUG | MEDICUS ] |