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Entry Name Description Category Pathway Gene
H01093 Paragonimiasis
Pulmonary distomatosis
Lung fluke disease
Benign endemic hemoptysis
... with trematodes belonging to the genus Paragonimus. Human infections occur by consuming freshwater crustaceans (second intermediate host) or wild boar meat (paratenic host). Paragonimiasis is generically ... Parasitic infectious disease
H01312 Enteroaggregative Escherichia coli (EAEC) infection ... EAEC adheres to the small intestine via aggregative adherence fimbriae. The adherent rods resemble stacked bricks and result in shortening of microvilli. Approximately 40% of EAEC strains produce a heat-stable ... Bacterial infectious disease
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]
H02084 Native American myopathy ... North Carolina. NAM features include myopathic facies, susceptibility to malignant hyperthermia, kyphoscoliosis, and cleft palate. The recent study identified a mutation in STAC3 as the cause for NAM. Nervous system disease; Musculoskeletal disease STAC3 [HSA:246329] [KO:K23713]
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