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Entry Name Description Category Pathway Gene
H01810 Congenital myopathy The congenital myopathies are a group of genetic muscle disorders characterised clinically by hypotonia and weakness, usually from birth, and a static or slowly progressive clinical course. Congenital ... Nervous system disease; Musculoskeletal disease (CMYP1A/1B) RYR1 [HSA:6261] [KO:K04961]
(CMYP2A/2B/2C) ACTA1 [HSA:58] [KO:K10354]
(CMYP3) SELENON [HSA:57190] [KO:K19874]
(CMYP4) TPM3 [HSA:7170] [KO:K09290]
(CMYP5) TTN [HSA:7273] [KO:K12567]
(CMYP6) MYH2 [HSA:4620] [KO:K24220]
(CMYP7) MYH7 [HSA:4625] [KO:K17751]
(CMYP8) ACTN2 [HSA:88] [KO:K21073]
(CMYP9) FXR1 [HSA:8087] [KO:K15516]
(CMYP10A/10B) MEGF10 [HSA:84466] [KO:K24068]
(CMYP11) HACD1 [HSA:9200] [KO:K10703]
(CMYP12) CNTN1 [HSA:1272] [KO:K06759]
(CMYP13) STAC3 [HSA:246329] [KO:K23713]
(CMYP14) MYL1 [HSA:4632] [KO:K05738]
(CMYP15) TNNC2 [HSA:7125] [KO:K12042]
(CMYP16) MYBPC1 [HSA:4604] [KO:K12557]
(CMYP17) MYOD1 [HSA:4654] [KO:K09064]
(CMYP18) CACNA1S [HSA:779] [KO:K04857]
(CMYP19) PAX7 [HSA:5081] [KO:K09381]
(CMYP20) RYR3 [HSA:6263] [KO:K04963]
(CMYP21) DNAJB4 [HSA:11080] [KO:K09510]
(CMYP22A/22B) SCN4A [HSA:6329] [KO:K04837]
(CMYP23) TPM2 [HSA:7169] [KO:K10374]
(CMYP24) MYPN [HSA:84665] [KO:K22028]
(CMND) SPTBN4 [HSA:57731] [KO:K06115]
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