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Entry Name Description Category Pathway Gene
H00125 Fabry disease
Anderson-Fabry disease 		Fabry disease is an X-linked lysosomal storage disorder caused by deficient alpha-galactosidase A activity. Symptoms arise because of accumulation of glycosphingolipids -mainly globotriaosylceramide- in ... Inherited metabolic disorder, Lysosomal disease GLA [HSA:2717] [KO:K01189]
H00577 Symptomatic generalized epilepsies Symptomatic generalized epilepsies are considered the consequence of a known or suspected disorder of the central nervous system. They include West syndrome, Lennox-Gastaut syndrome, Dravet syndrome, Epilepsy ... Nervous system disease (RMFSL) BRAT1 [HSA:221927] [KO:K23112]
(EPILX) SYN1 [HSA:6853] [KO:K19941]
(EPILX2) GABRA3 [HSA:2556] [KO:K05175]
H00606 Early infantile epileptic encephalopathy
Developmental and epileptic encephalopathy
Ohtahara syndrome 		Early infantile epileptic encephalopathy (EIEE), also known as developmental and epileptic encephalopathy (DEE), is characterized by frequent tonic spasms of early onset within a few months of life, and ... Nervous system disease (DEE1) ARX [HSA:170302] [KO:K09452]
(DEE2) CDKL5 [HSA:6792] [KO:K08824]
(DEE3) SLC25A22 [HSA:79751] [KO:K15107]
(DEE4) STXBP1 [HSA:6812] [KO:K15292]
(DEE5) SPTAN1 [HSA:6709] [KO:K06114]
(DEE6B) SCN1A [HSA:6323] [KO:K04833]
(DEE7) KCNQ2 [HSA:3785] [KO:K04927]
(DEE8) ARHGEF9 [HSA:23229] [KO:K20686]
(DEE9) PCDH19 [HSA:57526] [KO:K16499]
(DEE10) PNKP [HSA:11284] [KO:K08073]
(DEE11) SCN2A [HSA:6326] [KO:K04834]
(DEE12) PLCB1 [HSA:23236] [KO:K05858]
(DEE13) SCN8A [HSA:6334] [KO:K04840]
(DEE14) KCNT1 [HSA:57582] [KO:K04946]
(DEE15) ST3GAL3 [HSA:6487] [KO:K00781]
(DEE16) TBC1D24 [HSA:57465] [KO:K21841]
(DEE17) GNAO1 [HSA:2775] [KO:K04534]
(DEE18) SZT2 [HSA:23334] [KO:K23298]
(DEE19) GABRA1 [HSA:2554] [KO:K05175]
(DEE21) NECAP1 [HSA:25977] [KO:K20069]
(DEE22) SLC35A2 [HSA:7355] [KO:K15272]
(DEE23) DOCK7 [HSA:85440] [KO:K21852]
(DEE24) HCN1 [HSA:348980] [KO:K04954]
(DEE25) SLC13A5 [HSA:284111] [KO:K14445]
(DEE26) KCNB1 [HSA:3745] [KO:K04885]
(DEE27) GRIN2B [HSA:2904] [KO:K05210]
(DEE28) WWOX [HSA:51741] [KO:K19329]
(DEE29) AARS [HSA:16] [KO:K01872]
(DEE30) SIK1 [HSA:150094] [KO:K19008]
(DEE31A/31B) DNM1 [HSA:1759] [KO:K01528]
(DEE32) KCNA2 [HSA:3737] [KO:K04875]
(DEE33) EEF1A2 [HSA:1917] [KO:K03231]
(DEE34) SLC12A5 [HSA:57468] [KO:K23967]
(DEE35) ITPA [HSA:3704] [KO:K01519]
(DEE36) ALG13 [HSA:79868] [KO:K07432]
(DEE37) FRRS1L [HSA:23732] [KO:K25381]
(DEE38) ARV1 [HSA:64801] [KO:K21848]
(DEE39) SLC25A12 [HSA:8604] [KO:K15105]
(DEE40) GUF1 [HSA:60558] [KO:K21594]
(DEE41) SLC1A2 [HSA:6506] [KO:K05613]
(DEE42) CACNA1A [HSA:773] [KO:K04344]
(DEE43) GABRB3 [HSA:2562] [KO:K05181]
(DEE44) UBA5 [HSA:79876] [KO:K12164]
(DEE45) GABRB1 [HSA:2560] [KO:K05181]
(DEE46) GRIN2D [HSA:2906] [KO:K05212]
(DEE47) FGF12 [HSA:2257] [KO:K22413]
(DEE48) AP3B2 [HSA:8120] [KO:K12397]
(DEE49) DENND5A [HSA:23258] [KO:K20164]
(DEE50) CAD [HSA:790] [KO:K11540]
(DEE51) MDH2 [HSA:4191] [KO:K00026]
(DEE52) SCN1B [HSA:6324] [KO:K04845]
(DEE53) SYNJ1 [HSA:8867] [KO:K20279]
(DEE54) HNRNPU [HSA:3192] [KO:K12888]
(DEE55) PIGP [HSA:51227] [KO:K03861]
(DEE56) YWHAG [HSA:7532] [KO:K16198]
(DEE57) KCNT2 [HSA:343450] [KO:K04947]
(DEE58) NTRK2 [HSA:4915] [KO:K04360]
(DEE59) GABBR2 [HSA:9568] [KO:K04615]
(DEE60) CNPY3 [HSA:10695] [KO:K22816]
(DEE61) ADAM22 [HSA:53616] [KO:K16068]
(DEE62) SCN3A [HSA:6328] [KO:K04836]
(DEE63) CPLX1 [HSA:10815] [KO:K15294]
(DEE64) RHOBTB2 [HSA:23221] [KO:K07868]
(DEE65) CYFIP2 [HSA:26999] [KO:K05749]
(DEE66) PACS2 [HSA:23241] [KO:K23294]
(DEE67) CUX2 [HSA:23316] [KO:K09313]
(DEE68) TRAK1 [HSA:22906] [KO:K15369]
(DEE69) CACNA1E [HSA:777] [KO:K04852]
(DEE70) PHACTR1 [HSA:221692] [KO:K17594]
(DEE71) GLS [HSA:2744] [KO:K01425]
(DEE72) NEUROD2 [HSA:4761] [KO:K09078]
(DEE73) RNF13 [HSA:11342] [KO:K15692]
(DEE74) GABRG2 [HSA:2566] [KO:K05186]
(DEE75) PARS2 [HSA:25973] [KO:K01881]
(DEE76) ACTL6B [HSA:51412] [KO:K11652]
(DEE77) PIGQ [HSA:9091] [KO:K03860]
(DEE78) GABRA2 [HSA:2555] [KO:K05175]
(DEE79) GABRA5 [HSA:2558] [KO:K05175]
(DEE80) PIGB [HSA:9488] [KO:K05286]
(DEE81) DMXL2 [HSA:23312] [KO:K24155]
(DEE82) GOT2 [HSA:2806] [KO:K14455]
(DEE83) UGP2 [HSA:7360] [KO:K00963]
(DEE84) UGDH [HSA:7358] [KO:K00012]
(DEE85) SMC1A [HSA:8243] [KO:K06636]
(DEE86) DALRD3 [HSA:55152] [KO:K24973]
(DEE87) CDK19 [HSA:23097] [KO:K02208]
(DEE88) MDH1 [HSA:4190] [KO:K00025]
(DEE89) GAD1 [HSA:2571] [KO:K01580]
(DEE90) FGF13 [HSA:2258] [KO:K22413]
(DEE91) PPP3CA [HSA:5530] [KO:K04348]
(DEE92) GABRB2 [HSA:2561] [KO:K05181]
(DEE93) ATP6V1A [HSA:523] [KO:K02145]
(DEE94) CHD2 [HSA:1106] [KO:K20091]
(DEE95) PIGS [HSA:94005] [KO:K05291]
(DEE96) NSF [HSA:4905] [KO:K06027]
(DEE97) CELF2 [HSA:10659] [KO:K13207]
(DEE98) ATP1A2 [HSA:477] [KO:K01539]
(DEE99) ATP1A3 [HSA:478] [KO:K01539]
(DEE100) FBXO28 [HSA:23219] [KO:K10306]
(DEE101) GRIN1 [HSA:2902] [KO:K05208]
(DEE102) SLC38A3 [HSA:10991] [KO:K13576]
(DEE103) KCNC2 [HSA:3747] [KO:K04888]
(DEE104) ATP6V0A1 [HSA:535] [KO:K02154]
(DEE105) HID1 [HSA:283987]
(DEE106) UFSP2 [HSA:55325] [KO:K01376]
(DEE107) NAPB [HSA:63908] [KO:K26120]
(DEE108) MAST3 [HSA:23031] [KO:K08789]
(DEE109) FZR1 [HSA:51343] [KO:K03364]
(DEE110) CACNA2D1 [HSA:781] [KO:K04858]
(DEE111) DEPDC5 [HSA:9681] [KO:K20404]
(DEE112) KCNH5 [HSA:27133] [KO:K04908]
(DEE113) SV2A [HSA:9900] [KO:K06258]
(DEE114) SLC32A1 [HSA:140679] [KO:K15015]
(DEE115) SNF8 [HSA:11267] [KO:K12188]
(DEE116) GLUL [HSA:2752] [KO:K01915]
H00783 Febrile seizures ... responsible for FS. Furthermore, mutations in the voltage-gated sodium channel subunit genes (SCN1A, SCN2A and SCN1B) and the GABA(A) receptor subunit genes (GABRG2 and GABRD) have been identified in GEFS+. Nervous system disease (FEB2) HCN2 [HSA:610] [KO:K04955]
(FEB3) SCN1A [HSA:6323] [KO:K04833]
(FEB4) ADGRV1 [HSA:84059] [KO:K18263]
(FEB8) GABRG2 [HSA:2566] [KO:K05186]
(FEB11) CPA6 [HSA:57094] [KO:K08782]
H00808 Idiopathic generalized epilepsies Idiopathic generalized epilepsies (EIG) are the most common types of epilepsy in childhood and adolescence. Based on the main seizure type and age at onset, four classic subsyndromes exist: childhood absence ... Nervous system disease (EIG6) CACNA1H [HSA:8912] [KO:K04855]
(EIG8) CASR [HSA:846] [KO:K04612]
(EIG9) CACNB4 [HSA:785] [KO:K04865]
(EIG10) GABRD [HSA:2563] [KO:K05184]
(EIG11) CLCN2 [HSA:1181] [KO:K05011]
(EIG12) SLC2A1 [HSA:6513] [KO:K07299]
(EIG13) GABRA1 [HSA:2554] [KO:K05175]
(EIG14) SLC12A5 [HSA:57468] [KO:K23967]
(EIG15) RORB [HSA:6096] [KO:K08533]
(EIG16) KCNMA1 [HSA:3778] [KO:K04936]
(EIG18) HCN4 [HSA:10021] [KO:K04957]
H00941 Factor XII deficiency
Hageman factor deficiency 		... a major role in the initiation of the intrinsic pathway of blood coagulation. Venous or arterial thrombosis, recurrent miscarriages, and placental abruption were reported in cases with FXII deficiency. Hematologic disease F12 [HSA:2161] [KO:K01328]
H01424 Group A streptococcal pharyngitis
Group A streptococcal tonsillitis
Group A streptococcal pharyngotonsillitis 		... climates, it usually occurs in the winter and early spring. The onset of symptoms in patients is often abrupt. In addition to throat pain, symptoms may include fever, chills, malaise, headache, and particularly ... Bacterial infectious disease
H01425 Lysosomal storage disease ... following 5 groups. For details, please refer to the each entry. 1. Defects in glycan degradation: Fabry disease, Mucopolysaccharidosis, Glycoproteinoses, Defects in the degradation of sulfatide, Defects ... Inherited metabolic disorder
H01452 Pediatric autoimmune neuropsychiatric disorders associated with streptococcal infection ... diagnostic criteria: (1) the presence of OCD and/or a tic disorder, (2) prepubertal symptom onset, (3) an abrupt onset of symptoms that are episodic in severity, (4) a temporal association between symptom exacerbations ... Immune system disease
H01488 Hyperphosphatasia with mental retardation syndrome
Mabry syndrome 		Hyperphosphatasia with mental retardation syndrome (HPMRS), also known as Mabry syndrome, is an autosomal recessive disorder comprising intellectual disability and elevated levels of serum alkaline phosphatase ... Inherited metabolic disorder (HPMRS1) PIGV [HSA:55650] [KO:K07542]
(HPMRS2) PIGO [HSA:84720] [KO:K05288]
(HPMRS3) PGAP2 [HSA:27315] [KO:K23552]
(HPMRS4) PGAP3 [HSA:93210] [KO:K23553]
(HPMRS5) PIGW [HSA:284098] [KO:K05283]
(HPMRS6) PIGY [HSA:84992] [KO:K11001]
H01611 Alcohol dependence Alcohol dependence (AD) is a chronic but often disease that includes problems in controlling one's drinking, being preoccupied with alcohol, continuing to use alcohol even when it causes problems, having ... Mental and behavioural disorder hsa05034 Alcoholism ALDH2 [HSA:217] [KO:K00128]
ADH1B [HSA:125] [KO:K13951]
ADH1C [HSA:126] [KO:K13951]
HTR2A [HSA:3356] [KO:K04157]
GABRA2 [HSA:2555] [KO:K05175]
TAS2R16 [HSA:50833] [KO:K08474]
H01663 Pustular psoriasis ... development of extensive sterile pustules with widespread erythema. The von Zumbusch type often starts abruptly and can be associated with painful skin, fever, and chills. The disease course varies from a ... Immune system disease; Skin disease
H01717 Optic neuritis Optic neuritis is a demyelinating inflammatory disease of the optic nerve that presents with an abrupt loss of vision. The majority of patients are between the ages of 20 and 50 years, with a mean age ... Nervous system disease
H01829 Acute encephalitis with refractory repetitive partial seizures ... been perceived in Western countries, although it is widely recognized in Japan. They usually present abruptly with seizure or impaired consciousness as well as high-grade fever following antecedent infection ... Nervous system disease
H02150 Infantile or early childhood epileptic encephalopathy ... PPP3CA encodes a subunit of calcineurin, a key regulator of synaptic vesicle recycling at nerve terminals. Recently, IECEE caused by mutations in the GABRB2 gene and ATP6V1A gene has also been reported. Nervous system disease (IECEE1) PPP3CA [HSA:5530] [KO:K04348]
(IECEE2) GABRB2 [HSA:2561] [KO:K05181]
(IECEE3) ATP6V1A [HSA:523] [KO:K02145]
H02174 Sudden infant death with dysgenesis of the testes syndrome ... develop signs of visceral and autonomic dysfunction early in life, and die before 12 months of age of abrupt cardiorespiratory arrest. SIDDT was identified to be caused by loss of function mutations in the ... Nervous system disease TSPYL1 [HSA:7259] [KO:K11284]
H02215 Childhood absence epilepsy Childhood absence epilepsy (CAE/ECA) is a common idiopathic generalized epilepsy, accounts for 10% to 12% of epilepsy in children under 16 years of age. This condition begins in childhood with absences ... Nervous system disease (ECA2) GABRG2 [HSA:2566] [KO:K05186]
(ECA4) GABRA1 [HSA:2554] [KO:K05175]
(ECA5) GABRB3 [HSA:2562] [KO:K05181]
(ECA6) CACNA1H [HSA:8912] [KO:K04855]
H02217 Juvenile myoclonic epilepsy Juvenile myoclonic epilepsy (JME/EJM) is the most common form of idiopathic generalized epilepsy. JME appears around puberty and is characterized by seizures with bilateral and irregular myoclonic jerks ... Nervous system disease (EJM1) EFHC1 [HSA:114327] [KO:K23029]
(EJM5) GABRA1 [HSA:2554] [KO:K05175]
(EJM6) CACNB4 [HSA:785] [KO:K04865]
(EJM7) GABRD [HSA:2563] [KO:K05184]
(EJM8) CLCN2 [HSA:1181] [KO:K05011]
(EJM10) ICK [HSA:22858] [KO:K08828]
H02473 Leukoencephalopathy, brain calcifications, and cysts
Labrune syndrome 		Leukoencephalopathy, brain calcifications, and cysts (LCC) is a rare disorder that is radiologically characterized by edematous leukoencephalopathy, cerebral calcifications, and formation of parenchymal ... Nervous system disease SNORD118 [HSA:727676] [KO:K27110]
H02490 Gabriele-de Vries syndrome Gabriele-de Vries syndrome (GADEVS) is an intellectual disability syndrome caused by mutations in YY1. YY1 encodes a multi-functional transcription factor involved in many regulatory processes. Mental and behavioural disorder YY1 [HSA:7528] [KO:K09201]
H02564 Generalized epilepsy with febrile seizures plus Generalized epilepsy with febrile seizures plus (GEFSP) is a familial epilepsy syndrome with a spectrum of phenotypes. Mutations in the voltage-gated cation channel subunit genes and the GABA(A) receptor ... Nervous system disease (GEFSP1) SCN1B [HSA:6324] [KO:K04845]
(GEFSP2) SCN1A [HSA:6323] [KO:K04833]
(GEFSP3) GABRG2 [HSA:2566] [KO:K05186]
(GEFSP5) GABRD [HSA:2563] [KO:K05184]
(GEFSP9) STX1B [HSA:112755] [KO:K08486]
(GEFSP10) HCN1 [HSA:348980] [KO:K04954]
(GEFSP11) HCN2 [HSA:610] [KO:K04955]
(GEFSP12) SLC32A1 [HSA:140679] [KO:K15015]
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