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Entry | Name | Description | Category | Pathway | Gene |
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H00265 | Hereditary sensory and autonomic neuropathy | Hereditary sensory and autonomic neuropathies (HSAN) are clinically and genetically heterogeneous group of disorders of low prevalence. They are characterized by neuronal atrophy and degeneration, predominantly ... | Nervous system disease |
(HSAN1/HSN1A) SPTLC1 [HSA:10558] [KO:K00654] (HSAN1C) SPTLC2 [HSA:9517] [KO:K00654] (HSAN2A) WNK1 [HSA:65125] [KO:K08867] (HSAN2B) FAM134B [HSA:54463] [KO:K23880] (HSAN2C) KIF1A [HSA:547] [KO:K10392] (HSAN2D) SCN9A [HSA:6335] [KO:K04841] (HSAN3) IKBKAP [HSA:8518] [KO:K11373] (HSAN4) NTRK1 [HSA:4914] [KO:K03176] (HSAN5) NGFB [HSA:4803] [KO:K02582] (HSAN6) DST [HSA:667] [KO:K10382] (HSAN7) SCN11A [HSA:11280] [KO:K04843] (HSAN8) PRDM12 [HSA:59335] [KO:K24255] (HSAN9) TECPR2 [HSA:9895] [KO:K23881] (HSN1D) ATL1 [HSA:51062] [KO:K17339] (HSN1E) DNMT1 [HSA:1786] [KO:K00558] (HSN1F) ATL3 [HSA:25923] [KO:K17339] |
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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] |
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H00773 |
Autosomal dominant intellectual developmental disorder Autosomal dominant mental retardation |
Intellectual developmental disorder, formerly known as Mental retardation (MR), is a neurodevelopmental disorder characterized by low intelligence quotient (IQ) and deficits in adaptive behaviors. Most ... | Mental and behavioural disorder |
(MRD1) MBD5 [HSA:55777] [KO:K23219] (MRD2) DOCK8 [HSA:81704] [KO:K21852] (MRD3) CDH15 [HSA:1013] [KO:K06809] (MRD4) KIRREL3 [HSA:84623] [KO:K25874] (MRD5) SYNGAP1 [HSA:8831] [KO:K17631] (MRD6) GRIN2B [HSA:2904] [KO:K05210] (MRD7) DYRK1A [HSA:1859] [KO:K08825] (MRD8) GRIN1 [HSA:2902] [KO:K05208] (MRD9) KIF1A [HSA:547] [KO:K10392] (MRD10) CACNG2 [HSA:10369] [KO:K04867] (MRD11) EPB41L1 [HSA:2036] [KO:K23961] (MRD12) ARID1B [HSA:57492] [KO:K11653] (MRD13) DYNC1H1 [HSA:1778] [KO:K10413] (MRD14) ARID1A [HSA:8289] [KO:K11653] (MRD15) SMARCB1 [HSA:6598] [KO:K11648] (MRD16) SMARCA4 [HSA:6597] [KO:K11647] (MRD17) PACS1 [HSA:55690] [KO:K23290] (MRD18) GATAD2B [HSA:57459] [KO:K23194] (MRD19) CTNNB1 [HSA:1499] [KO:K02105] (MRD20) MEF2C [HSA:4208] [KO:K04454] (MRD21) CTCF [HSA:10664] [KO:K23195] (MRD22) ZBTB18 [HSA:10472] [KO:K23196] (MRD23) SETD5 [HSA:55209] [KO:K23216] (MRD24) DEAF1 [HSA:10522] [KO:K23041] (MRD25) AHDC1 [HSA:27245] [KO:K22592] (MRD26) AUTS2 [HSA:26053] [KO:K23214] (MRD27) SOX11 [HSA:6664] [KO:K09268] (MRD29) SETBP1 [HSA:26040] [KO:K23217] (MRD30) ZMYND11 [HSA:10771] [KO:K23218] (MRD31) PURA [HSA:5813] [KO:K21772] (MRD32) KAT6A [HSA:7994] [KO:K11305] (MRD33) DPP6 [HSA:1804] [KO:K23013] (MRD34) COL4A3BP [HSA:10087] [KO:K08283] (MRD35) PPP2R5D [HSA:5528] [KO:K11584] (MRD36) PPP2R1A [HSA:5518] [KO:K03456] (MRD38) EEF1A2 [HSA:1917] [KO:K03231] (MRD39) MYT1L [HSA:23040] [KO:K23193] (MRD40) CHAMP1 [HSA:283489] [KO:K22593] (MRD41) TBL1XR1 [HSA:79718] [KO:K04508] (MRD42) GNB1 [HSA:2782] [KO:K04536] (MRD43) HIVEP2 [HSA:3097] [KO:K09239] (MRD44/63) TRIO [HSA:7204] [KO:K08810] (MRD45) CIC [HSA:23152] [KO:K20225] (MRD46) KCNQ5 [HSA:56479] [KO:K04930] (MRD47) STAG1 [HSA:10274] [KO:K06671] (MRD48) RAC1 [HSA:5879] [KO:K04392] (MRD49) TRIP12 [HSA:9320] [KO:K10590] (MRD50) NAA15 [HSA:80155] [KO:K20792] (MRD51) KMT5B [HSA:51111] [KO:K11429] (MRD52) ASH1L [HSA:55870] [KO:K06101] (MRD53) CAMK2A [HSA:815] [KO:K04515] (MRD54) CAMK2B [HSA:816] [KO:K04515] (MRD55) NUS1 [HSA:116150] [KO:K19177] (MRD56) CLTC [HSA:1213] [KO:K04646] (MRD57) TLK2 [HSA:11011] [KO:K08864] (MRD58) SET [HSA:6418] [KO:K11290] (MRD59) CAMK2G [HSA:818] [KO:K04515] (MRD60) AP2M1 [HSA:1173] [KO:K11826] (MRD61) MED13 [HSA:9969] [KO:K15164] (MRD62) DLG4 [HSA:1742] [KO:K11828] (MRD64) ZNF292 [HSA:23036] [KO:K26728] (MRD65) KDM4B [HSA:23030] [KO:K06709] (MRD66) ATP2B1 [HSA:490] [KO:K05850] (MRD67) GRIA1 [HSA:2890] [KO:K05197] (MRD68) KMT2B [HSA:9757] [KO:K14959] (MRD69) LMAN2L [HSA:81562] [KO:K10083] (MRD70) SETD2 [HSA:29072] [KO:K11423] (MRD71) RFX7 [HSA:64864] [KO:K09175] (MRD72) SRRM2 [HSA:23524] [KO:K13172] (MRD73) TAF4 [HSA:6874] [KO:K03129] (MRD74) HNRNPC [HSA:3183] [KO:K12884] |
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