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Entry Name Description Category Pathway Gene
H00343 Diphtheria Diphtheria is a contagious and potentially life-threatening childhood disease caused by Corynebacterium diphtheriae. In industrialized countries, immunization against diphtheria became widespread in the ... Bacterial infectious disease
H00698 Nemaline myopathy ... form; and adult-onset (late-onset) form. Mutations in several genes, encoding components of the sarcomeric thin filaments, have been identified. Mutations in ACTA1 and NEB nebulin are the most common. Nervous system disease; Musculoskeletal disease (NEM1) TPM3 [HSA:7170] [KO:K09290]
(NEM2) NEB [HSA:4703] [KO:K18267]
(NEM3) ACTA1 [HSA:58] [KO:K10354]
(NEM4) TPM2 [HSA:7169] [KO:K10374]
(NEM5A/5B/5C) TNNT1 [HSA:7138] [KO:K10372]
(NEM6) KBTBD13 [HSA:390594] [KO:K21913]
(NEM7) CFL2 [HSA:1073] [KO:K05765]
(NEM8) KLHL40 [HSA:131377] [KO:K10473]
(NEM9) KLHL41 [HSA:10324] [KO:K10473]
(NEM10) LMOD3 [HSA:56203] [KO:K22030]
(NEM11) MYPN [HSA:84665] [KO:K22028]
H00989 Mohr-Tranebjaerg syndrome Mohr-Tranebjaerg syndrome is an X-linked recessive condition characterized by progressive postlingual sensorineural hearing impairment that begin in childhood associated by dystonia and optic atrophy. ... Nervous system disease TIMM8A [HSA:1678] [KO:K17780]
H01051 Corynebacterium ulcerans infection Human infections with toxigenic Corynebacterium ulcerans cause respiratory diphtheria-like illness. It can be fatal in unvaccinated patients and usually occur in adults, who consumed raw milk or had close ... Bacterial infectious disease
H02299 Arthrogryposis multiplex congenita Arthrogryposis multiplex congenita (AMC) is a group of disorders characterized by non-progressive joint contractures from birth. There are various etiologies for AMC including genetic and environmental ... Congenital malformation (AMC1) LGI4 [HSA:163175] [KO:K25430]
(AMC2) ERGIC1 [HSA:57222] [KO:K20365]
(AMC3) SYNE1 [HSA:23345] [KO:K19326]
(AMC4) SCYL2 [HSA:55681] [KO:K17541]
(AMC5) TOR1A [HSA:1861] [KO:K22990]
(AMC6) NEB [HSA:4703] [KO:K18267]
H02500 Congenital interstitial lung disease with nephrotic syndrome and epidermolysis bullosa Congenital interstitial lung disease with nephrotic syndrome and epidermolysis bullosa (ILNEB) is a multiorgan disorder caused by mutations in ITGA3. ITGA3 encodes a transmembrane integrin receptor subunit ... Congenital malformation ITGA3 [HSA:3675] [KO:K06482]
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