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Entry Name Description Category Pathway Gene
H00264 Charcot-Marie-Tooth disease
Hereditary motor and sensory neuropathy 		Charcot-Marie-Tooth (CMT) disease, also called hereditary motor and sensory neuropathy (HMSN), is a group of disorders characterized by a chronic motor and sensory polyneuropathy. Based on nerve conduction ... Neurodegenerative disease (CMT1A/1E) PMP22 [HSA:5376] [KO:K19289]
(CMT1B/2I/2J/4E) MPZ [HSA:4359] [KO:K06770]
(CMT1C) LITAF [HSA:9516] [KO:K19363]
(CMT1D/4E) EGR2 [HSA:1959] [KO:K12496]
(CMT1F/2E/DIG) NEFL [HSA:4747] [KO:K04572]
(CMT1G) PMP2 [HSA:5375] [KO:K24977]
(CMT1H) FBLN5 [HSA:10516] [KO:K17340]
(CMT1I) POLR3B [HSA:55703] [KO:K03021]
(CMT1J) ITPR3 [HSA:3710] [KO:K04960]
(CMT2A1) KIF1B [HSA:23095] [KO:K10392]
(CMT2A2/6) MFN2 [HSA:9927] [KO:K06030]
(CMT2B) RAB7A [HSA:7879] [KO:K07897]
(CMT2B1) LMNA [HSA:4000] [KO:K12641]
(CMT2B2) PNKP [HSA:11284] [KO:K08073]
(CMT2C) TRPV4 [HSA:59341] [KO:K04973]
(CMT2CC) NEFH [HSA:4744] [KO:K04574]
(CMT2D) GARS1 [HSA:2617] [KO:K01880]
(CMT2DD) ATP1A1 [HSA:476] [KO:K01539]
(CMT2EE) MPV17 [HSA:4358] [KO:K13348]
(CMT2F) HSPB1 [HSA:3315] [KO:K04455]
(CMT2FF) CADM3 [HSA:57863] [KO:K06780]
(CMT2GG) GBF1 [HSA:8729] [KO:K18443]
(CMT2HH) JAG1 [HSA:182] [KO:K06052]
(CMT2II) SLC12A6 [HSA:9990] [KO:K14427]
(CMT2K/4A/RIA) GDAP1 [HSA:54332] [KO:K22077]
(CMT2K) JPH1 [HSA:56704] [KO:K19530]
(CMT2L) HSPB8 [HSA:26353] [KO:K08879]
(CMT2M/DIB) DNM2 [HSA:1785] [KO:K23484]
(CMT2N) AARS1 [HSA:16] [KO:K01872]
(CMT2O) DYNC1H1 [HSA:1778] [KO:K10413]
(CMT2P) LRSAM1 [HSA:90678] [KO:K10641]
(CMT2Q) DHTKD1 [HSA:55526] [KO:K15791]
(CMT2R) TRIM2 [HSA:23321] [KO:K11997]
(CMT2S) IGHMBP2 [HSA:3508] [KO:K19036]
(CMT2T) MME [HSA:4311] [KO:K01389]
(CMT2U) MARS1 [HSA:4141] [KO:K01874]
(CMT2V) NAGLU [HSA:4669] [KO:K01205]
(CMT2W) HARS1 [HSA:3035] [KO:K01892]
(CMT2X) SPG11 [HSA:80208] [KO:K19026]
(CMT2Y) VCP [HSA:7415] [KO:K13525]
(CMT2Z) MORC2 [HSA:22880] [KO:K24135]
(CMT4B1) MTMR2 [HSA:8898] [KO:K18081]
(CMT4B2) SBF2 [HSA:81846] [KO:K18061]
(CMT4B3) SBF1 [HSA:6305] [KO:K18061]
(CMT4C/MNMN) SH3TC2 [HSA:79628] [KO:K24313]
(CMT4D) NDRG1 [HSA:10397] [KO:K18266]
(CMT4F) PRX [HSA:57716] [KO:K27395]
(CMT4H) FGD4 [HSA:121512] [KO:K05723]
(CMT4J) FIG4 [HSA:9896] [KO:K22913]
(CMT4K) SURF1 [HSA:6834] [KO:K14998]
(CMT6B) SLC25A46 [HSA:91137] [KO:K03454]
(CMT6C) PDXK [HSA:8566] [KO:K00868]
(CMTX1) GJB1 [HSA:2705] [KO:K07620]
(CMTX5) PRPS1 [HSA:5631] [KO:K00948]
(CMTX6) PDK3 [HSA:5165] [KO:K00898]
(CMTDIC) YARS1 [HSA:8565] [KO:K01866]
(CMTDIE) INF2 [HSA:64423] [KO:K23958]
(CMTDIF) GNB4 [HSA:59345] [KO:K04538]
(CMTRIB) KARS1 [HSA:3735] [KO:K04567]
(CMTRIC) PLEKHG5 [HSA:57449] [KO:K19464]
(CMTRID) COX6A1 [HSA:1337] [KO:K02266]
H00897 Pontocerebellar hypoplasia Pontocerebellar hypoplasia (PCH) is a group of inherited progressive neurodegenerative disorders with prenatal onset. Up to now ten different subtypes have been reported. All subtypes share common characteristics ... Congenital malformation (PCH1A) VRK1 [HSA:7443] [KO:K08816]
(PCH1B) EXOSC3 [HSA:51010] [KO:K03681]
(PCH1C) EXOSC8 [HSA:11340] [KO:K12586]
(PCH1D) EXOSC9 [HSA:5393] [KO:K03678]
(PCH1E) SLC25A46 [HSA:91137] [KO:K03454]
(PCH1F) EXOSC1 [HSA:51013] [KO:K07573]
(PCH2A/4/5) TSEN54 [HSA:283989] [KO:K15326]
(PCH2B) TSEN2 [HSA:80746] [KO:K15322]
(PCH2C) TSEN34 [HSA:79042] [KO:K15323]
(PCH2D) SEPSECS [HSA:51091] [KO:K03341]
(PCH2E) VPS53 [HSA:55275] [KO:K20299]
(PCH2F) TSEN15 [HSA:116461] [KO:K15324]
(PCH3) PCLO [HSA:27445] [KO:K16882]
(PCH6) RARS2 [HSA:57038] [KO:K01887]
(PCH7) TOE1 [HSA:114034] [KO:K13202]
(PCH8) CHMP1A [HSA:5119] [KO:K12197]
(PCH9) AMPD2 [HSA:271] [KO:K01490]
(PCH10) CLP1 [HSA:10978] [KO:K14399]
(PCH11) TBC1D23 [HSA:55773] [KO:K22555]
(PCH12) COASY [HSA:80347] [KO:K02318]
(PCH13) VPS51 [HSA:738] [KO:K20296]
(PCH14) PPIL1 [HSA:51645] [KO:K12733]
(PCH15) CDC40 [HSA:51362] [KO:K12816]
(PCH16) MINPP1 [HSA:9562] [KO:K03103]
(PCH17) PRDM13 [HSA:59336] [KO:K24645]
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