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Entry Name Description Category Pathway Gene
H01287 Congenital mirror movements Mirror movements (MRMV) are involuntary movements of one side of the body that mirror intentional movements on the opposite side. While mirror movements are occasionally found in young children, persistence ... Nervous system disease (MRMV1) DCC [HSA:1630] [KO:K06765]
(MRMV2) RAD51A [HSA:5888] [KO:K04482]
(MRMV3) DNAL4 [HSA:10126] [KO:K10412]
(MRMV4) NTN1 [HSA:9423] [KO:K06843]
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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