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Entry Name Description Category Pathway Gene
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]
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]
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]
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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