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Entry Name Description Category Pathway Gene
H00293 Arrhythmogenic right ventricular cardiomyopathy Arrhythmogenic right ventricular cardiomyopathy (ARVC) is an inherited heart muscle disease that may result in arrhythmia, heart failure, and sudden death. The hallmark pathological findings are progressive ... Cardiovascular disease hsa05412 Arrhythmogenic right ventricular cardiomyopathy (ARVD1) TGFB3 [HSA:7043] [KO:K13377]
(ARVD2) RYR2 [HSA:6262] [KO:K04962]
(ARVD5) TMEM43 [HSA:79188] [KO:K27488]
(ARVD8) DSP [HSA:1832] [KO:K10381]
(ARVD9) PKP2 [HSA:5318] [KO:K12642]
(ARVD10) DSG2 [HSA:1829] [KO:K07597]
(ARVD11) DSC2 [HSA:1824] [KO:K07601]
(ARVD12) JUP [HSA:3728] [KO:K10056]
(ARVD13) CTNNA3 [HSA:29119] [KO:K05691]
(ARVD14) CDH2 [HSA:1000] [KO:K06736]
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]
H00779 Usher syndrome Usher syndrome (USH) is a group of autosomal recessively inherited disorders characterized by deafness and vision loss. Three clinical types USH1, USH2, and USH3, are distinguished on the basis of severity ... Nervous system disease (USH1B) MYO7A [HSA:4647] [KO:K10359]
(USH1C) USH1C [HSA:10083] [KO:K21877]
(USH1D/1DF) CDH23, USH1D [HSA:64072] [KO:K06813]
(USH1F/1DF) PCDH15 [HSA:65217] [KO:K16500]
(USH1G) USH1G [HSA:124590] [KO:K21878]
(USH1J) CIB2 [HSA:10518] [KO:K23837]
(USH1M) ESPN [HSA:83715] [KO:K24047]
(USH2A) USH2A [HSA:7399] [KO:K19636]
(USH2A/2C) PDZD7 [HSA:79955] [KO:K21882]
(USH2B/2C) GPR98 [HSA:84059] [KO:K18263]
(USH2D) WHRN [HSA:25861] [KO:K21879]
(USH3A) CLRN1 [HSA:7401] [KO:K23841]
(USH3B) HARS [HSA:3035] [KO:K01892]
(USH4) ARSG [HSA:22901] [KO:K12381]
H01102 Pituitary adenomas Pituitary adenomas are an important and frequently occurring form of intracranial tumor. They are usually benign but can give rise to severe clinical syndromes due to hormonal excess, or to visual/cranial ... Neoplasm (MEN1) MEN1 [HSA:4221] [KO:K14970]
(MEN4) CDKN1B [HSA:1027] [KO:K06624]
(CNC) PRKAR1A [HSA:5573] [KO:K04739]
(PITA1) AIP [HSA:9049] [KO:K17767]
(PITA2) GPR101 [HSA:83550] [KO:K08423]
(PITA3) GNAS [HSA:2778] [KO:K04632]
(PITA4) USP8 [HSA:9101] [KO:K11839]
(PITA5) CDH23 [HSA:64072] [KO:K06813]
RASD1 [HSA:51655] [KO:K07843]
H01431 Cushing syndrome Cushing syndrome (CS) is a rare disorder resulting from prolonged exposure to excess glucocorticoids via exogenous and endogenous sources. The typical clinical features of CS are related to hypercortisolism ... Endocrine and metabolic disease hsa04934 Cushing syndrome (MEN1) MEN1 [HSA:4221] [KO:K14970]
(MEN4) CDKN1B [HSA:1027] [KO:K06624]
(CNC1) PRKAR1A [HSA:5573] [KO:K04739]
(PITA1) AIP [HSA:9049] [KO:K17767]
(PITA2) GPR101 [HSA:83550] [KO:K08423]
(PITA3) GNAS [HSA:2778] [KO:K04632]
(PITA4) USP8 [HSA:9101] [KO:K11839]
(PITA5) CDH23 [HSA:64072] [KO:K06813]
(AIMAH2) ARMC5 [HSA:79798] [KO:K22499]
(PPNAD1) PRKAR1A [HSA:5573] [KO:K04739]
(PPNAD2) PDE11A [HSA:50940] [KO:K13298]
(PPNAD3) PDE8B [HSA:8622] [KO:K18437]
(PPNAD4) PRKACA [HSA:5566] [KO:K04345]
RASD1 [HSA:51655] [KO:K07843]
H01705 Bilateral sudden sensorineural hearing loss Bilateral sudden sensorineural hearing loss (SNHL) represents a rare disease entity, constituting less than 5 % of all sudden SNHL cases. Unlike unilateral disease, bilateral sudden SNHL appears to be ... Nervous system disease ACTG1 [HSA:71] [KO:K05692]
CDH23 [HSA:64072] [KO:K06813]
COCH [HSA:1690] [KO:K23574]
KCNQ4 [HSA:9132] [KO:K04929]
TECTA [HSA:7007] [KO:K18273]
TMPRSS3 [HSA:64699] [KO:K09634]
WFS1 [HSA:7466] [KO:K14020]
H01895 Attention deficit hyperactivity disorder (ADHD) Attention-deficit hyperactivity disorder (ADHD) is a common psychiatric disorder first diagnosed in childhood and frequently persistent throughout adult life. The disorder is classically characterized ... Mental and behavioural disorder (ADHD) DRD5 [HSA:1816] [KO:K05840]
(ADHD) DRD4 [HSA:1815] [KO:K04147]
(ADHD7) TPH2 [HSA:121278] [KO:K00502]
(ADHD8) CDH2 [HSA:1000] [KO:K06736]
H02508 Agenesis of corpus callosum, cardiac, ocular, and genital syndrome ... ocular, and genital syndrome (ACOGS) is a multisystemic developmental disorder caused by mutations in CDH2. CDH2 encodes N-cadherin, whose essential roles in neural development include neuronal migration ... Congenital malformation CDH2 [HSA:1000] [KO:K06736]
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