Search Result

Top
1 to 2 of 2
Entry Name Description Category Pathway Gene
H01891 Autosomal recessive spinocerebellar ataxias Autosomal recessive cerebellar ataxias (SCAR) are a heterogeneous group of inherited neurodegenerative disorders that affect the cerebellum, the spinocerebellar and sensory tracts of the spinal cord and ... Neurodegenerative disease (SCAR1/SCAN2) SETX [HSA:23064] [KO:K10706]
(SCAR2) PMPCA [HSA:23203] [KO:K01412]
(SCAR4) VPS13D [HSA:55187] [KO:K19527]
(SCAR7) TPP1 [HSA:1200] [KO:K01279]
(SCAR8) SYNE1 [HSA:23345] [KO:K19326]
(SCAR9) COQ8A [HSA:56997] [KO:K08869]
(SCAR10) ANO10 [HSA:55129] [KO:K19327]
(SCAR11) SYT14 [HSA:255928] [KO:K19328]
(SCAR12) WWOX [HSA:51741] [KO:K19329]
(SCAR13) GRM1 [HSA:2911] [KO:K04603]
(SCAR14) SPTBN2 [HSA:6712] [KO:K23932]
(SCAR15) RUBCN [HSA:9711] [KO:K19330]
(SCAR16) STUB1 [HSA:10273] [KO:K09561]
(SCAR17) CWF19L1 [HSA:55280] [KO:K24939]
(SCAR18) GRID2 [HSA:2895] [KO:K05207]
(SCAR19) SLC9A1 [HSA:6548] [KO:K05742]
(SCAR20) SNX14 [HSA:57231] [KO:K17926]
(SCAR21) SCYL1 [HSA:57410] [KO:K08876]
(SCAR22) VWA3B [HSA:200403] [KO:K24509]
(SCAR23) TDP2 [HSA:51567] [KO:K19619]
(SCAR24) UBA5 [HSA:79876] [KO:K12164]
(SCAR25) ATG5 [HSA:9474] [KO:K08339]
(SCAR26) XRCC1 [HSA:7515] [KO:K10803]
(SCAR27) GDAP2 [HSA:54834] [KO:K24997]
(SCAR28) THG1L [HSA:54974] [KO:K10761]
(SCAR29) VPS41 [HSA:27072] [KO:K20184]
(SCAR30) PITRM1 [HSA:10531] [KO:K06972]
(SCAR31) ATG7 [HSA:10533] [KO:K08337]
(SCAR32) PRDX3 [HSA:10935] [KO:K20011]
(SCAR33) RNU12 [HSA:267010]
(SCAN1) TDP1 [HSA:55775] [KO:K10862]
(SCAN3) COA7 [HSA:65260] [KO:K18180]
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]
(NDHSAL) HECW2 [HSA:57520] [KO:K12168]
(NEDHFBA) PPP1R21 [HSA:129285] [KO:K17562]
(NEDHYBA) CLCN3 [HSA:1182] [KO:K05012]
(NEDDISH) MADD [HSA:8567] [KO:K26162]
(NEDCHF) HDAC4 [HSA:9759] [KO:K11406]
(NEDHMS) UBE4A [HSA:9354] [KO:K10596]
(NEDEMA) FRMD5 [HSA:84978] [KO:K23969]
(NEDHFS) PGM2L1 [HSA:283209] [KO:K11809]
(NEDHSS) EIF4A2 [HSA:1974] [KO:K03257]
(NEDSMB) UBE3C [HSA:9690] [KO:K10589]
(NEDSSCC) HECTD4 [HSA:283450] [KO:K17849]
(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]
(NEDGTH) PSMC1 [HSA:5700] [KO:K03062]
(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]
1 to 2 of 2

[ KEGG | DISEASE | DRUG | MEDICUS ]