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Entry | Name | Description | Category | Pathway | Gene |
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H00605 | Deafness, autosomal recessive | Hereditary deafness is divided into syndromic forms (in which hearing loss is associated with a variety of other anomalies) and non-syndromic forms. Non-syndromic forms are responsible for 70% of the cases ... | Nervous system disease |
(DFNB1A) GJB2 [HSA:2706] [KO:K07621] (DFNB1A) GJB3 [HSA:2707] [KO:K07622] (DFNB1B) GJB6 [HSA:10804] [KO:K07625] (DFNB2) MYO7A [HSA:4647] [KO:K10359] (DFNB3) MYO15A [HSA:51168] [KO:K10361] (DFNB4) SLC26A4 [HSA:5172] [KO:K14702] (DFNB4) FOXI1 [HSA:2299] [KO:K09401] (DFNB4) KCNJ10 [HSA:3766] [KO:K05003] (DFNB6) TMIE [HSA:259236] [KO:K23907] (DFNB7/11) TMC1 [HSA:117531] [KO:K21988] (DFNB8/10) TMPRSS3 [HSA:64699] [KO:K09634] (DFNB9) OTOF [HSA:9381] [KO:K19949] (DFNB12) CDH23 [HSA:64072] [KO:K06813] (DFNB12) ATP2B2 [HSA:491] [KO:K05850] (DFNB15) GIPC3 [HSA:126326] [KO:K20056] (DFNB16) STRC [HSA:161497] [KO:K24636] (DFNB18A) USH1C [HSA:10083] [KO:K21877] (DFNB18B) OTOG [HSA:340990] [KO:K25030] (DFNB21) TECTA [HSA:7007] [KO:K18273] (DFNB22) OTOA [HSA:146183] [KO:K25029] (DFNB23) PCDH15 [HSA:65217] [KO:K16500] (DFNB24) RDX [HSA:5962] [KO:K05762] (DFNB25) GRXCR1 [HSA:389207] [KO:K17479] (DFNB26) GAB1 [HSA:2549] [KO:K09593] (DFNB26) METTL13 [HSA:51603] [KO:K25166] (DFNB28) TRIOBP [HSA:11078] [KO:K23751] (DFNB29) CLDN14 [HSA:23562] [KO:K06087] (DFNB30) MYO3A [HSA:53904] [KO:K08834] (DFNB31) WHRN [HSA:25861] [KO:K21879] (DFNB32) CDC14A [HSA:8556] [KO:K06639] (DFNB35) ESRRB [HSA:2103] [KO:K08553] (DFNB36) ESPN [HSA:83715] [KO:K24047] (DFNB37) MYO6 [HSA:4646] [KO:K10358] (DFNB39) HGF [HSA:3082] [KO:K05460] (DFNB42) ILDR1 [HSA:286676] [KO:K25781] (DFNB44) ADCY1 [HSA:107] [KO:K08041] (DFNB48) CIB2 [HSA:10518] [KO:K23837] (DFNB49) MARVELD2 [HSA:153562] [KO:K17291] (DFNB53) COL11A2 [HSA:1302] [KO:K19721] (DFNB57) PDZD7 [HSA:79955] [KO:K21882] (DFNB59) PJVK [HSA:494513] [KO:K22147] (DFNB61) SLC26A5 [HSA:375611] [KO:K14703] (DFNB63) LRTOMT [HSA:220074] [KO:K00545] (DFNB66) DCDC2 [HSA:51473] [KO:K23405] (DFNB67) LHFPL5 [HSA:222662] [KO:K23893] (DFNB68) S1PR2 [HSA:9294] [KO:K04292] (DFNB70) PNPT1 [HSA:87178] [KO:K00962] (DFNB74) MSRB3 [HSA:253827] [KO:K07305] (DFNB76) SYNE4 [HSA:163183] [KO:K23401] (DFNB77) LOXHD1 [HSA:125336] [KO:K24822] (DFNB79) TPRN [HSA:286262] [KO:K24164] (DFNB82) GPSM2 [HSA:29899] [KO:K15837] (DFNB84A) PTPRQ [HSA:374462] [KO:K16910] (DFNB84B) OTOGL [HSA:283310] [KO:K25030] (DFNB86) TBC1D24 [HSA:57465] [KO:K21841] (DFNB88) ELMOD3 [HSA:84173] [KO:K23538] (DFNB89) KARS1 [HSA:3735] [KO:K04567] (DFNB91) SERPINB6 [HSA:5269] [KO:K13963] (DFNB93) CABP2 [HSA:51475] [KO:K23531] (DFNB94) NARS2 [HSA:79731] [KO:K01893] (DFNB97) MET [HSA:4233] [KO:K05099] (DFNB98) TSPEAR [HSA:54084] [KO:K24437] (DFNB99) TMEM132E [HSA:124842] [KO:K17599] (DFNB100) PPIP5K2 [HSA:23262] [KO:K13024] (DFNB101) GRXCR2 [HSA:643226] [KO:K24294] (DFNB102) EPS8 [HSA:2059] [KO:K17277] (DFNB103) CLIC5 [HSA:53405] [KO:K05025] (DFNB104) RIPOR2 [HSA:9750] [KO:K24818] (DFNB106) EPS8L2 [HSA:64787] [KO:K17277] (DFNB107) WBP2 [HSA:23558] [KO:K22524] (DFNB108) ROR1 [HSA:4919] [KO:K05122] (DFNB109) ESRP1 [HSA:54845] [KO:K14947] (DFNB110) COCH [HSA:1690] [KO:K23574] (DFNB111) MPZL2 [HSA:10205] [KO:K27316] (DFNB112) BDP1 [HSA:55814] [KO:K15198] (DFNB113) CEACAM16 [HSA:388551] [KO:K06499] (DFNB114) GRAP [HSA:10750] [KO:K23694] (DFNB115) SPNS2 [HSA:124976] [KO:K23677] (DFNB116) CLDN9 [HSA:9080] [KO:K06087] (DFNB117) CLRN2 [HSA:645104] [KO:K23841] (DFNB119) SPATA5L1 [HSA:79029] [KO:K26051] (DFNB120) MINAR2 [HSA:100127206] [KO:K24830] (DFNB121) GPR156 [HSA:165829] [KO:K04617] (DFNB122) TMTC4 [HSA:84899] [KO:K23424] (DFNB123) STX4 [HSA:6810] [KO:K13502] (DFNB124) PKHD1L1 [HSA:93035] [KO:K27624] (DFNB125) GAS2 [HSA:2620] [KO:K24627] |
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H00891 | Combined oxidative phosphorylation deficiency | Combined oxidative phosphorylation deficiency (COXPD) is a group of multisystem disorders with variable manifestations resulting from a defect in the mitochondrial oxidative phosphorylation system. It ... | Inherited metabolic disorder, Mitochondrial disease |
(COXPD1) GFM1 [HSA:85476] [KO:K02355] (COXPD2) MRPS16 [HSA:51021] [KO:K02959] (COXPD3) TSFM [HSA:10102] [KO:K02357] (COXPD4) TUFM [HSA:7284] [KO:K02358] (COXPD5) MRPS22 [HSA:56945] [KO:K17401] (COXPD6) AIFM1 [HSA:9131] [KO:K04727] (COXPD7) MTRFR [HSA:91574] [KO:K23498] (COXPD8) AARS2 [HSA:57505] [KO:K01872] (COXPD9) MRPL3 [HSA:11222] [KO:K02906] (COXPD10) MTO1 [HSA:25821] [KO:K03495] (COXPD11) RMND1 [HSA:55005] [KO:K23499] (COXPD12) EARS2 [HSA:124454] [KO:K01885] (COXPD13) PNPT1 [HSA:87178] [KO:K00962] (COXPD14) FARS2 [HSA:10667] [KO:K01889] (COXPD15) MTFMT [HSA:123263] [KO:K00604] (COXPD16) MRPL44 [HSA:65080] [KO:K17425] (COXPD17) ELAC2 [HSA:60528] [KO:K00784] (COXPD18) SFXN4 [HSA:119559] [KO:K23502] (COXPD19) LYRM4 [HSA:57128] [KO:K22069] (COXPD20) VARS2 [HSA:57176] [KO:K01873] (COXPD21) TARS2 [HSA:80222] [KO:K01868] (COXPD22) ATP5F1A [HSA:498] [KO:K02132] (COXPD23) GTPBP3 [HSA:84705] [KO:K03650] (COXPD24) NARS2 [HSA:79731] [KO:K01893] (COXPD25) MARS2 [HSA:92935] [KO:K01874] (COXPD26) TRMT5 [HSA:57570] [KO:K15429] (COXPD27) CARS2 [HSA:79587] [KO:K01883] (COXPD28) SLC25A26 [HSA:115286] [KO:K15111] (COXPD29) TXN2 [HSA:25828] [KO:K03671] (COXPD30) TRMT10C [HSA:54931] [KO:K17654] (COXPD31) MIPEP [HSA:4285] [KO:K01410] (COXPD32) MRPS34 [HSA:65993] [KO:K17412] (COXPD33) C1QBP [HSA:708] [KO:K15414] (COXPD34) MRPS7 [HSA:51081] [KO:K02992] (COXPD35) TRIT1 [HSA:54802] [KO:K00791] (COXPD36) MRPS2 [HSA:51116] [KO:K02967] (COXPD37) MICOS13 [HSA:125988] [KO:K24624] (COXPD38) MRPS14 [HSA:63931] [KO:K02954] (COXPD39) GFM2 [HSA:84340] [KO:K02355] (COXPD40) QRSL1 [HSA:55278] [KO:K02433] (COXPD41) GATB [HSA:5188] [KO:K02434] (COXPD42) GATC [HSA:283459] [KO:K02435] (COXPD43) TIMM22 [HSA:29928] [KO:K17790] (COXPD44) FASTKD2 [HSA:22868] [KO:K18190] (COXPD45) MRPL12 [HSA:6182] [KO:K02935] (COXPD46) MRPS23 [HSA:51649] [KO:K17402] (COXPD47) MRPS28 [HSA:28957] [KO:K17407] (COXPD48) NSUN3 [HSA:63899] [KO:K21969] (COXPD49) MIEF2 [HSA:125170] [KO:K23507] (COXPD50) MRPS25 [HSA:64432] [KO:K17404] (COXPD51) PTCD3 [HSA:55037] [KO:K17659] (COXPD52) NFS1 [HSA:9054] [KO:K04487] (COXPD53) C2orf69 [HSA:205327] (COXPD54) PRORP [HSA:9692] [KO:K17655] (COXPD55) POLRMT [HSA:5442] [KO:K10908] (COXPD56) TAMM41 [HSA:132001] [KO:K17807] (COXPD57) CRLS1 [HSA:54675] [KO:K08744] (COXPD58) TEFM [HSA:79736] [KO:K17658] (COXPD59) MRPL39 [HSA:54148] [KO:K17420] |
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