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Entry Name Description Category Pathway Gene
H00066 Lewy body dementia (LBD)
Dementia with Lewy bodies (DLB) 		... factors include alpha-synuclein mutations and SNCA locus triplication. Mutations of leucine-rich repeat kinase 2 (LRRK2) and the glucocerebrosidase (GBA) gene have also been implicated in familial DLB. Neurodegenerative disease SNCA (mutation, triplication) [HSA:6622] [KO:K04528]
SNCB (mutation) [HSA:6620] [KO:K24201]
LRRK2 (mutation) [HSA:120892] [KO:K08844]
GBA (mutation) [HSA:2629] [KO:K01201]
H00126 Gaucher disease Gaucher disease (GD) is an autosomal recessive lysosomal storage disorder caused by deficient beta-glucocerebrosidase (glucosylceramidase) activity or saposin C which is an activator of beta-glucocerebrosidase ... Inherited metabolic disorder, Lysosomal disease (GD1/GD2/GD3/GD3C) GBA1 [HSA:2629] [KO:K01201]
(GDSAPC) PSAP [HSA:5660] [KO:K12382]
H00266 Hereditary spastic paraplegia Hereditary spastic paraplegias (SPG) are a group of clinically and genetically diverse disorders characterized by progressive distal limb weakness and lower extremity spasticity. Nervous system disease (SPG1) L1CAM [HSA:3897] [KO:K06550]
(SPG2) PLP1 [HSA:5354] [KO:K17271]
(SPG3) ATL1 [HSA:51062] [KO:K17339]
(SPG4) SPAST [HSA:6683] [KO:K13254]
(SPG5) CYP7B1 [HSA:9420] [KO:K07430]
(SPG6) NIPA1 [HSA:123606] [KO:K19364]
(SPG7) SPG7 [HSA:6687] [KO:K09552]
(SPG8) WASHC5 [HSA:9897] [KO:K18464]
(SPG9A/9B) ALDH18A1 [HSA:5832] [KO:K12657]
(SPG10) KIF5A [HSA:3798] [KO:K10396]
(SPG11) SPG11 [HSA:80208] [KO:K19026]
(SPG12) RTN2 [HSA:6253] [KO:K20722]
(SPG13) HSPD1 [HSA:3329] [KO:K04077]
(SPG15) ZFYVE26 [HSA:23503] [KO:K19027]
(SPG17) BSCL2 [HSA:26580] [KO:K19365]
(SPG18A/18B) ERLIN2 [HSA:11160] [KO:K23341]
(SPG20) SPART [HSA:23111] [KO:K19366]
(SPG21) SPG21 [HSA:51324] [KO:K19367]
(SPG23) DSTYK [HSA:25778] [KO:K16288]
(SPG26) B4GALNT1 [HSA:2583] [KO:K00725]
(SPG28) DDHD1 [HSA:80821] [KO:K13619]
(SPG30A/30B) KIF1A [HSA:547] [KO:K10392]
(SPG31) REEP1 [HSA:65055] [KO:K17338]
(SPG33) ZFYVE27 [HSA:118813] [KO:K19368]
(SPG35) FA2H [HSA:79152] [KO:K19703]
(SPG39) PNPLA6 [HSA:10908] [KO:K14676]
(SPG42) SLC33A1 [HSA:9197] [KO:K03372]
(SPG43) C19orf12 [HSA:83636] [KO:K23168]
(SPG44) GJC2 [HSA:57165] [KO:K07619]
(SPG45) NT5C2 [HSA:22978] [KO:K01081]
(SPG46) GBA2 [HSA:57704] [KO:K17108]
(SPG47) AP4B1 [HSA:10717] [KO:K12401]
(SPG48) AP5Z1 [HSA:9907] [KO:K19025]
(SPG49) TECPR2 [HSA:9895] [KO:K23881]
(SPG50) AP4M1 [HSA:9179] [KO:K12402]
(SPG51) AP4E1 [HSA:23431] [KO:K12400]
(SPG52) AP4S1 [HSA:11154] [KO:K12403]
(SPG53) VPS37A [HSA:137492] [KO:K12185]
(SPG54) DDHD2 [HSA:23259] [KO:K16545]
(SPG55) MTRFR [HSA:91574] [KO:K23498]
(SPG56) CYP2U1 [HSA:113612] [KO:K07422]
(SPG57) TFG [HSA:10342] [KO:K09292]
(SPG61) ARL6IP1 [HSA:23204] [KO:K24864]
(SPG62) ERLIN1 [HSA:10613] [KO:K23341]
(SPG63) AMPD2 [HSA:271] [KO:K01490]
(SPG64) ENTPD1 [HSA:953] [KO:K01510]
(SPG70) MARS1 [HSA:4141] [KO:K01874]
(SPG72A/72B) REEP2 [HSA:51308] [KO:K17338]
(SPG73) CPT1C [HSA:126129] [KO:K19524]
(SPG74) IBA57 [HSA:200205] [KO:K22073]
(SPG75) MAG [HSA:4099] [KO:K06771]
(SPG76) CAPN1 [HSA:823] [KO:K01367]
(SPG77) FARS2 [HSA:10667] [KO:K01889]
(SPG78) ATP13A2 [HSA:23400] [KO:K13526]
(SPG79A/79B) UCHL1 [HSA:7345] [KO:K05611]
(SPG80) UBAP1 [HSA:51271] [KO:K24629]
(SPG81) SELENOI [HSA:85465] [KO:K00993]
(SPG82) PCYT2 [HSA:5833] [KO:K00967]
(SPG83) HPDL [HSA:84842] [KO:K24788]
(SPG84) PI4KA [HSA:5297] [KO:K00888]
(SPG85) RNF170 [HSA:81790] [KO:K15707]
(SPG86) ABHD16A [HSA:7920] [KO:K25824]
(SPG87) TMEM63C [HSA:57156] [KO:K21989]
(SPG88) KPNA3 [HSA:3839] [KO:K23583]
(SPG89) AMFR [HSA:267] [KO:K10636]
(SPG90A/90B) SPTSSA [HSA:171546] [KO:K26384]
(SPG91) SPTAN1 [HSA:6709] [KO:K06114]
(SPG92) FICD [HSA:11153] [KO:K04095]
(SPG93) NFU1 [HSA:27247] [KO:K22074]
H00423 Sphingolipidosis The sphingolipidoses are a group of monogenic inherited diseases caused by defects in the system of lysosomal sphingolipid degradation, with subsequent accumulation of non-degradable storage material in ... Inherited metabolic disorder, Lysosomal disease (Fabry) GLA [HSA:2717] [KO:K01189]
(GM1G) GLB1 [HSA:2720] [KO:K12309]
(GM2G1) HEXA [HSA:3073] [KO:K12373]
(GM2G2) HEXB [HSA:3074] [KO:K12373]
(GD) GBA [HSA:2629] [KO:K01201]
(MLD) ARSA [HSA:410] [KO:K01134]
(KRB) GALC [HSA:2581] [KO:K01202]
(NPD) SMPD1 [HSA:6609] [KO:K12350]
(FRBRL) ASAH1 [HSA:427] [KO:K12348]
(MSD) SUMF1 [HSA:285362] [KO:K13444]
(GD/MLD/KRB) PSAP [HSA:5660] [KO:K12382]
H02459 Syndromic neurodevelopmental disorder Syndromic neurodevelopmental disorder (NED) is a group of disorders that have a number of clinical features in addition to intellectual disability and developmental delay. Many genes that cause these syndromes ... Congenital malformation (NEDALVS) WASF1 [HSA:8936] [KO:K05753]
(NEDIDHA) DOCK3 [HSA:1795] [KO:K05727]
(NEDISHM) ZNF142 [HSA:7701] [KO:K24851]
(NEDSSWI) DHPS [HSA:1725] [KO:K00809]
(NEDMIAL) DHX30 [HSA:22907] [KO:K13185]
(NEDMOSBA) TMEM222 [HSA:84065] [KO:K20726]
(NEDSGO) TBC1D2B [HSA:23102] [KO:K20166]
(NEDEGE) NBEA [HSA:26960] [KO:K24183]
(NEDSOA) THUMPD1 [HSA:55623] [KO:K06963]
(NEDLBAS) AGO1 [HSA:26523] [KO:K11593]
(NEDLDS) TIAM1 [HSA:7074] [KO:K05731]
(NEDGBA) ATP9A [HSA:10079] [KO:K26679]
(NEDLAAD) CAPRIN1 [HSA:4076] [KO:K18743]
(NEDOA) SNF8 [HSA:11267] [KO:K12188]
(NEDXSB) IQSEC2 [HSA:23096] [KO:K12495]
(NEDVIL) PIP5K1C [HSA:23396] [KO:K00889]
(NEDSTV) FSD1L [HSA:83856] [KO:K24489]
(NEDSIL) JKAMP [HSA:51528] [KO:K28966]
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