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Entry | Name | Description | Category | Pathway | Gene |
---|---|---|---|---|---|
H00704 | Oculopharyngeal muscular dystrophy | ... the short (GCG) trinucleotide repeat in the coding sequence of the poly(A) binding protein nuclear 1 (PABPN1) gene. To date OPMD is considered as a primary myopathic disorder and there is little morphologic ... | Nervous system disease; Musculoskeletal disease |
(OPMD1) PABPN1 [HSA:8106] [KO:K14396] (OPMD2) HNRNPA2B1 [HSA:3181] [KO:K13158] |
[ KEGG | DISEASE | DRUG | MEDICUS ] |