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| Entry | Name | Description | Category | Pathway | Gene |
|---|---|---|---|---|---|
| H02513 | Oculopharyngodistal myopathy | ... facial, pharyngeal, and distal limb muscles. Noncoding CGG repeat expansion in LRP12 has been identified in patients. It has also been reported that expansion of GGC repeat in GIPC1 is associated with OPDM. | Musculoskeletal disease |
(OPDM1) LRP12 [HSA:29967] [KO:K20050] (OPDM2) GIPC1 [HSA:10755] [KO:K20056] (OPDM3) NOTCH2NLC [HSA:100996717] [KO:K24466] (OPDM4) RILPL1 [HSA:353116] [KO:K20173] |
| [ KEGG | DISEASE | DRUG | MEDICUS ] |