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| Entry | Name | Description | Category | Pathway | Gene |
|---|---|---|---|---|---|
| H00770 | Congenital myasthenic syndrome | Congenital myasthenic syndromes (CMS) are a heterogenous group of genetic disorders caused by mutations in several proteins that compose the neuromuscular junction (NMJ) apparatus on which synaptic formation ... | Nervous system disease |
(CMS1A/1B) CHRNA1 [HSA:1134] [KO:K04803] (CMS2A/2C) CHRNB1 [HSA:1140] [KO:K04812] (CMS3A/3B/3C) CHRND [HSA:1144] [KO:K04816] (CMS4A/4B/4C) CHRNE [HSA:1145] [KO:K04817] (CMS5) COLQ [HSA:8292] [KO:K26586] (CMS6) CHAT [HSA:1103] [KO:K00623] (CMS7A/7B) SYT2 [HSA:127833] [KO:K19902] (CMS8) AGRN [HSA:375790] [KO:K06254] (CMS9) MUSK [HSA:4593] [KO:K05129] (CMS10) DOK7 [HSA:285489] [KO:K24038] (CMS11) RAPSN [HSA:5913] [KO:K24924] (CMS12) GFPT1 [HSA:2673] [KO:K00820] (CMS13) DPAGT1 [HSA:1798] [KO:K01001] (CMS14) ALG2 [HSA:85365] [KO:K03843] (CMS15) ALG14 [HSA:199857] [KO:K07441] (CMS16) SCN4A [HSA:6329] [KO:K04837] (CMS17) LRP4 [HSA:4038] [KO:K20051] (CMS18) SNAP25 [HSA:6616] [KO:K18211] (CMS19) COL13A1 [HSA:1305] [KO:K16617] (CMS20) SLC5A7 [HSA:60482] [KO:K14387] (CMS21) SLC18A3 [HSA:6572] [KO:K14636] (CMS22) PREPL [HSA:9581] [KO:K22582] (CMS23) SLC25A1 [HSA:6576] [KO:K15100] (CMS24) MYO9A [HSA:4649] [KO:K10360] (CMS25) VAMP1 [HSA:6843] [KO:K08510] |
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| H01351 | Spastic ataxia | Spastic ataxia (SPAX) is a heterogeneous group of progressive neurodegenerative disorders, characterized by lower-limb spasticity and generalized ataxia with dysarthria, impaired ocular movements, and ... | Neurodegenerative disease |
(SPAX1) VAMP1 [HSA:6843] [KO:K08510] (SPAX2) KIF1C [HSA:10749] [KO:K10392] (SPAX3/ARSAL) MARS2 [HSA:92935] [KO:K01874] (SPAX4) MTPAP [HSA:55149] [KO:K18060] (SPAX5) AFG3L2 [HSA:10939] [KO:K08956] (SPAX6/ARSACS) SACS [HSA:26278] [KO:K17592] (SPAX8) NKX6-2 [HSA:84504] [KO:K09350] (SPAX9) CHP1 [HSA:11261] [KO:K17610] (SPAX10) COQ4 [HSA:51117] [KO:K18586] |
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| H02397 | Neurodevelopmental disorder with movement abnormalities or hypotonia | Neurodevelopmental disorder (NED) with movement abnormalities or hypotonia is a group of syndromic neurodevelopmental disorders. Some of them have complications in addition to movement abnormalities or ... | Congenital malformation |
(NEDMAGA) ZSWIM6 [HSA:57688] [KO:K25704] (NEDBASH) NTNG2 [HSA:84628] [KO:K16359] (NEDIMAE) SYT1 [HSA:6857] [KO:K15290] (NEDHAHM) VAMP2 [HSA:6844] [KO:K13504] (NEDHRIT) RALGAPA1 [HSA:253959] [KO:K25768] (NEDHFBA) PPP1R21 [HSA:129285] [KO:K17562] (NEDHYBA) CLCN3 [HSA:1182] [KO:K05012] (NEDDISH) MADD [HSA:8567] [KO:K26162] (NEDCHF) HDAC4 [HSA:9759] [KO:K11406] (NEDEMA) FRMD5 [HSA:84978] [KO:K23969] (NEDHFS) PGM2L1 [HSA:283209] [KO:K11809] (NEDHSS) EIF4A2 [HSA:1974] [KO:K03257] (NEDSTO) TNR [HSA:7143] [KO:K06252] (NEDSIS) CACNA1I [HSA:8911] [KO:K04856] (NEDIHSS) ESAM [HSA:90952] [KO:K06787] (NEDNMS) NRCAM [HSA:4897] [KO:K06756] (NEDRSO) SNAPC4 [HSA:6621] [KO:K09453] (NEDMSF) PUM1 [HSA:9698] [KO:K17943] (NEDHBA) SLC4A10 [HSA:57282] [KO:K13861] (NEDHLSS) CACNA1C [HSA:775] [KO:K04850] (NEDHCAS) PIGK [HSA:10026] [KO:K05290] (NEDDS) SHQ1 [HSA:55164] [KO:K14764] (NEDHYD) ADCY5 [HSA:111] [KO:K08045] (NEDNEH) CACNA1B [HSA:774] [KO:K04849] (NEDHELS) DEAF1 [HSA:10522] [KO:K23041] (NEDHCS) SNIP1 [HSA:79753] [KO:K13108] (NEDPM) ACBD6 [HSA:84320] |
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