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Entry Name Description Category Pathway Gene
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]
(SPG9) 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]
(SPG30) 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]
H00409 Type 2 diabetes mellitus Type 2 diabetes mellitus (T2DM) is characterized by chronic hyperglycemia due to insulin resistance of peripheral tissues (skeletal muscle, liver, adipose tissue) and insufficient compensatory insulin ... Endocrine and metabolic disease hsa04930 Type II diabetes mellitus IGF2BP2 [HSA:10644] [KO:K17392]
CAPN10 [HSA:11132] [KO:K08579]
SLC30A8 [HSA:169026] [KO:K14695]
KCNJ11 [HSA:3767] [KO:K05004]
MTNR1B [HSA:4544] [KO:K04286]
ENPP1 [HSA:5167] [KO:K01513]
PPARG [HSA:5468] [KO:K08530]
HNF1B [HSA:6928] [KO:K08034]
TCF7L2 [HSA:6934] [KO:K04491]
WFS1 [HSA:7466] [KO:K14020]
H02747 Oculogastrointestinal neurodevelopmental syndrome ... syndrome (OGIN) is a syndrome of congenital malformations and developmental delay caused by mutations in CAPN15. Clinical features include microcephaly, global developmental delay, dysmorphic features, endocrine ... Congenital malformation CAPN15 [HSA:8449] [KO:K12813]
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