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Entry | Name | Description | Category | Pathway | Gene |
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H00591 | Facioscapulohumeral muscular dystrophy | Facioscapulohumeral muscular dystrophy (FSHD) is a usually autosomal dominant inherited form of muscular dystrophy. At disease onset, typically in the second decade of life, FSHD is characterized by initially ... | Nervous system disease; Musculoskeletal disease |
(FSHD1) FRG1 [HSA:2483] [KO:K13122] (FSHD2) SMCHD1 [HSA:23347] [KO:K23113] (FSHD3) LRIF1 [HSA:55791] [KO:K23220] (FSHD4) DNMT3B [HSA:1789] [KO:K17399] |
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H02111 |
Autism Autistic spectrum disorder Pervasive developmental disorder |
Autism, also known as autistic spectrum disorder (ASD), is a common childhood onset neurodevelopmental disorder, characterised by severe deficits in socialisation, communication, and repetitive or unusual ... | Mental and behavioural disorder |
(AUTS15) CNTNAP2 [HSA:26047] [KO:K07380] (AUTS16) SLC9A9 [HSA:285195] [KO:K14725] (AUTS17) SHANK2 [HSA:22941] [KO:K15009] (AUTS18) CHD8 [HSA:57680] [KO:K04494] (AUTS19) EIF4E [HSA:1977] [KO:K03259] (AUTS20) NLGN1 [HSA:22871] [KO:K07378] (AUTSX1) NLGN3 [HSA:54413] [KO:K07378] (AUTSX2) NLGN4X [HSA:57502] [KO:K07378] (AUTSX3) MECP2 [HSA:4204] [KO:K11588] (AUTSX4) PTCHD1 [HSA:139411] [KO:K24682] (AUTSX5) RPL10 [HSA:6134] [KO:K02866] (AUTSX6) TMLHE [HSA:55217] [KO:K00474] |
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H02342 | Frontotemporal dementia and amyotrophic lateral sclerosis | Frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS) are genetically heterogeneous disorders. Mutations in the several genes and a repeat expansion in the C9orf72 gene have been reported ... | Nervous system disease |
(FTDALS1) C9orf72 [HSA:203228] [KO:K23609] (FTDALS2) CHCHD10 [HSA:400916] [KO:K22759] (FTDALS3) SQSTM1 [HSA:8878] [KO:K14381] (FTDALS4) TBK1 [HSA:29110] [KO:K05410] (FTDALS5) CCNF [HSA:899] [KO:K10289] (FTDALS6) VCP [HSA:7415] [KO:K13525] (FTDALS7) CHMP2B [HSA:25978] [KO:K12192] (FTDALS8) CYLD [HSA:1540] [KO:K08601] |
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H02507 | Pilarowski-Bjornsson syndrome | ... disability characterized by autism, speech apraxia, developmental delay and facial dysmorphic features. It has been reported that missense mutations in the chromatin remodeler CHD1 are associated with PILBOS. | Mental and behavioural disorder | CHD1 [HSA:1105] [KO:K11367] |
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