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Entry | Name | Description | Category | Pathway | Gene |
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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] |
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H01354 | Leigh syndrome | Leigh syndrome is a severe neurological disorder, characterized by bilaterally symmetrical necrotic lesions in the basal ganglia and brainstem. Most frequently the central nervous system is affected, with ... | Inherited metabolic disorder, Mitochondrial disease |
NDUFS3 [HSA:4722] [KO:K03936] NDUFS4 [HSA:4724] [KO:K03937] NDUFS7 [HSA:374291] [KO:K03940] NDUFS8 [HSA:4728] [KO:K03941] NDUFA2 [HSA:4695] [KO:K03946] NDUFA9 [HSA:4704] [KO:K03953] NDUFA10 [HSA:4705] [KO:K03954] NDUFA12 [HSA:55967] [KO:K11352] NDUFAF2 [HSA:91942] [KO:K18160] NDUFAF6 [HSA:137682] [KO:K18163] FOXRED1 [HSA:55572] [KO:K18166] SDHA [HSA:6389] [KO:K00234] COX10 [HSA:1352] [KO:K02257] COX15 [HSA:1355] [KO:K02259] SURF1 [HSA:6834] [KO:K14998] BCS1L [HSA:617] [KO:K08900] TACO1 [HSA:51204] [KO:K18189] (LSFC) LRPPRC [HSA:10128] [KO:K17964] |
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H01368 |
Cytochrome c oxidase (COX) deficiency Mitochondrial complex IV deficiency (MT-C4D) |
Cytochrome c oxidase (COX) deficiency is a mitochondrial disease that is caused by the lack of the COX. Cytochrome c oxidase (COX) is the terminal enzyme of the mitochondrial respiratory chain (complex ... | Inherited metabolic disorder, Mitochondrial disease |
(MC4DN1) SURF1 [HSA:6834] [KO:K14998] (MC4DN2) SCO2 [HSA:9997] [KO:K23755] (MC4DN3) COX10 [HSA:1352] [KO:K02257] (MC4DN4) SCO1 [HSA:6341] [KO:K07152] (MC4DN5) LRPPRC [HSA:10128] [KO:K17964] (MC4DN6) COX15 [HSA:1355] [KO:K02259] (MC4DN7) COX6B1 [HSA:1340] [KO:K02267] (MC4DN8) TACO1 [HSA:51204] [KO:K18189] (MC4DN9) COA5 [HSA:493753] [KO:K18178] (MC4DN10) COX14 [HSA:84987] [KO:K18181] (MC4DN11) COX20 [HSA:116228] [KO:K18184] (MC4DN12) PET100 [HSA:100131801] [KO:K18186] (MC4DN13) COA6 [HSA:388753] [KO:K18179] (MC4DN14) COA3 [HSA:28958] [KO:K18175] (MC4DN15) COX8A [HSA:1351] [KO:K02273] (MC4DN16) COX4I1 [HSA:1327] [KO:K02263] (MC4DN17) COA8 [HSA:84334] [KO:K23506] (MC4DN18) COX6A2 [HSA:1339] [KO:K02266] (MC4DN19) PET117 [HSA:100303755] [KO:K18188] (MC4DN20) COX5A [HSA:9377] [KO:K02264] (MC4DN21) NDUFA4 [HSA:4697] [KO:K03948] (MC4DN22) COX16 [HSA:51241] [KO:K18182] (MC4DN23) COX11 [HSA:1353] [KO:K02258] (COXPD44) FASTKD2 [HSA:22868] [KO:K18190] (MT-C4D) COX1 [HSA:4512] [KO:K02256] (MT-C4D) COX2 [HSA:4513] [KO:K02261] (MT-C4D) COX3 [HSA:4514] [KO:K02262] |
[ KEGG | DISEASE | DRUG | MEDICUS ] |