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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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H00459 | Synpolydactyly | ... and fourth fingers. Mutation in HOXD13 induces synpolydactyly. Synpolydactyly 2 is associated with metacarpal and metatarsal synostoses. Synpolydactyly 2 is very rare and caused by mutations in FBLN1. | Congenital malformation |
(SPD1) HOXD13 [HSA:3239] [KO:K09298] (SPD2) FBLN1 [HSA:2192] [KO:K17307] |
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H00557 | Cutis laxa | Cutis laxa is a heterogeneous group of connective tissue disorders with variable organ involvement. The most obvious symptom of cutis laxa is loose and sagging skin due to reduced elastic fibers in the ... | Congenital malformation |
(ADCL1) ELN [HSA:2006] [KO:K14211] (ADCL2/ARCL1A) FBLN5 [HSA:10516] [KO:K17340] (ADCL3/ARCL3A) ALDH18A1 [HSA:5832] [KO:K12657] (ARCL1B) EFEMP2 [HSA:30008] [KO:K19866] (ARCL1C) LTBP4 [HSA:8425] [KO:K08023] (ARCL1D) EFEMP1 [HSA:2202] [KO:K18262] (ARCL2A/WSS) ATP6V0A2 [HSA:23545] [KO:K02154] (ARCL2B/ARCL3B) PYCR1 [HSA:5831] [KO:K00286] (ARCL2C) ATP6V1E1 [HSA:529] [KO:K02150] (ARCL2D) ATP6V1A [HSA:523] [KO:K02145] (ARCL2E) LTBP1 [HSA:4052] [KO:K19559] |
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H00821 | Age-related macular degeneration | Macular degeneration is the physical breakdown of the central portion of the retina called the macula. Age-related macular degeneration (AMD/ARMD) is the leading cause of blindness. AMD is a complex disease ... | Nervous system disease |
(ARMD1) HMCN1 [HSA:83872] [KO:K17341] (ARMD1) CFHR1 [HSA:3078] [KO:K23815] (ARMD1) CFHR3 [HSA:10878] [KO:K23815] (ARMD2) ABCA4 [HSA:24] [KO:K05644] (ARMD3) FBLN5 [HSA:10516] [KO:K17340] (ARMD4) CFH [HSA:3075] [KO:K04004] (ARMD5) ERCC6 [HSA:2074] [KO:K10841] (ARMD6) RAX2 [HSA:84839] [KO:K09333] (ARMD7) HTRA1 [HSA:5654] [KO:K08784] (ARMD8) ARMS2 [HSA:387715] [KO:K25179] (ARMD9) C3 [HSA:718] [KO:K03990] (ARMD10) TLR4 [HSA:7099] [KO:K10160] (ARMD11) CST3 [HSA:1471] [KO:K13899] (ARMD12) CX3CR1 [HSA:1524] [KO:K04192] (ARMD13) CFI [HSA:3426] [KO:K01333] (ARMD14) C2 [HSA:717] [KO:K01332] (ARMD14) CFB [HSA:629] [KO:K01335] (ARMD15) C9 [HSA:735] [KO:K04000] |
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H02592 | Familial Behcet-like autoinflammatory syndrome | Familial Behcet-like autoinflammatory syndrome (AIFBL) is an autosomal dominant monogenic autoinflammatory disease characterized by early-onset systemic inflammation, arthralgia/arthritis, oral/genital ... | Immune system disease |
(AIFBL1) TNFAIP3 [HSA:7128] [KO:K11859] (AIFBL2) ELF4 [HSA:2000] [KO:K09428] |
[ KEGG | DISEASE | DRUG | MEDICUS ] |