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Entry Name Description Category Pathway Gene
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]
H01911 Syndromic autosomal recessive mental retardation Mental retardation (MR) is a neurodevelopmental disorder characterized by low intelligence quotient (IQ) and deficits in adaptive behaviors. To date, several genes have been identified for autosomal recessive ... Mental and behavioural disorder (MRT34) CRADD [HSA:8738] [KO:K02832]
(MRAMS) SOBP [HSA:55084] [KO:K27304]
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