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Entry | Name | Description | Category | Pathway | Gene |
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H00004 | Chronic myeloid leukemia | ... The natural history of CML has a triphasic clinical course comprising of an initial chronic phase (CP), which is characterized by expansion of functionally normal myeloid cells, followed by an accelerated ... | Cancer | hsa05220 Chronic myeloid leukemia |
BCR-ABL (translocation) [HSA:613 25] [KO:K08878 K06619] MECOM (overexpression) [HSA:2122] [KO:K04462] RUNX1 (translocation) [HSA:861] [KO:K08367] CDKN2A [HSA:1029] [KO:K06621] TP53 [HSA:7157] [KO:K04451] RB1 [HSA:5925] [KO:K06618] |
H00078 | Frontotemporal lobar degeneration | ... including microtubule associate protein tau (MAPT), progranulin (PGRN),Valosin-containing protein (VCP) and chromatin modifying protein 2B (CHMP2B). MAPT mutations are associated with tau pathology. Mutations ... | Neurodegenerative disease |
(Pick disease/ FTD) MAPT [HSA:4137] [KO:K04380] (Pick disease/ FTD) PSEN1 [HSA:5663] [KO:K04505] (FTLDU) GRN [HSA:2896] [KO:K23879] |
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H00102 | Classic complement pathway component defects | ... classic or nonclassic activation pathways of the complement response. Defects in the classic pathway (CP) account for the more common type of complement deficiency, and are associated with increased risk ... | Primary immunodeficiency |
(C1QD1) C1QA [HSA:712] [KO:K03986] (C1QD2) C1QB [HSA:713] [KO:K03987] (C1QD3) C1QC [HSA:714] [KO:K03988] (C1SD) C1S [HSA:716] [KO:K01331] (C2D) C2 [HSA:717] [KO:K01332] (C3D) C3 [HSA:718] [KO:K03990] (C4AD) C4A [HSA:720] [KO:K03989] (C4BD) C4B [HSA:721] [KO:K03989] |
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H00164 | Carbamoyl phosphate synthetase I deficiency | Carbamoylphosphate synthetase I deficiency is a urea-cycle disorder characterized by hyperammonemia. | Inherited metabolic disorder | CPS1 [HSA:1373] [KO:K01948] | |
H00202 | Hepatic porphyria | Hepatic porphyrias are diseases due to marked deficiencies of enzymes in the heme biosynthetic pathway. Clinical manifestations in porphyria are neurovisceral or cutaneous as well as hematic or hepatic | Inherited metabolic disorder |
(PCT) UROD [HSA:7389] [KO:K01599] (AIP) HMBS [HSA:3145] [KO:K01749] (VP) PPOX [HSA:5498] [KO:K00231] (ALADP) ALAD [HSA:210] [KO:K01698] (HCP) CPOX [HSA:1371] [KO:K00228] |
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H00238 | Fanconi anemia | Fanconi anemia (FA), a recessive syndrome with both autosomal and X-linked inheritance, features diverse clinical symptoms, such as progressive bone marrow failures, chromosomal instability and susceptibility ... | Hematologic disease |
(FANCA) FANCA [HSA:2175] [KO:K10888] (FANCB) FANCB [HSA:2187] [KO:K10889] (FANCC) FANCC [HSA:2176] [KO:K10890] (FANCD1) BRCA2 [HSA:675] [KO:K08775] (FANCD2) FANCD2 [HSA:2177] [KO:K10891] (FANCE) FANCE [HSA:2178] [KO:K10892] (FANCF) FANCF [HSA:2188] [KO:K10893] (FANCG) FANCG [HSA:2189] [KO:K10894] (FANCI) FANCI [HSA:55215] [KO:K10895] (FANCJ) BRIP1 [HSA:83990] [KO:K15362] (FANCL) FANCL [HSA:55120] [KO:K10606] (FANCM) FANCM [HSA:57697] [KO:K10896] (FANCN) PALB2 [HSA:79728] [KO:K10897] (FANCO) RAD51C [HSA:5889] [KO:K10870] (FANCP) SLX4 [HSA:84464] [KO:K10484] (FANCQ) ERCC4 [HSA:2072] [KO:K10848] (FANCR) RAD51 [HSA:5888] [KO:K04482] (FANCS) BRCA1 [HSA:672] [KO:K10605] (FANCT) UBE2T [HSA:29089] [KO:K13960] (FANCU) XRCC2 [HSA:7516] [KO:K10879] (FANCV) MAD2L2 [HSA:10459] [KO:K13728] (FANCW) RFWD3 [HSA:55159] [KO:K15691] |
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H00254 |
Growth hormone deficiency Pituitary dwarfism |
Growth hormone deficiency, formerly known as Pituitary dwarfism, is a heterogeneous condition characterized by growth retardation with short stature and normal body proportions caused by growth hormone ... | Endocrine and metabolic disease |
(IGHD1A/1B/2) GH1 [HSA:2688] [KO:K05438] (IGHD3) BTK [HSA:695] [KO:K07370] (IGHD4) GHRHR [HSA:2692] [KO:K04584] (CPHD1) POU1F1 [HSA:5449] [KO:K09363] (CPHD2) PROP1 [HSA:5626] [KO:K09327] (CPHD3) LHX3 [HSA:8022] [KO:K09374] (CPHD4) LHX4 [HSA:89884] [KO:K09374] (CPHD5) HESX1 [HSA:8820] [KO:K09354] (CPHD6) OTX2 [HSA:5015] [KO:K18490] (CPHD7/IGHD5) RNPC3 [HSA:55599] [KO:K13157] (CPHD8) ROBO1 [HSA:6091] [KO:K06753] (PD2) GHR [HSA:2690] [KO:K05080] (PHPX) SOX3 [HSA:6658] [KO:K09267] (GHDP) GHSR [HSA:2693] [KO:K04284] |
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H00264 |
Charcot-Marie-Tooth disease Hereditary motor and sensory neuropathy |
Charcot-Marie-Tooth (CMT) disease, also called hereditary motor and sensory neuropathy (HMSN), is a group of disorders characterized by a chronic motor and sensory polyneuropathy. Based on nerve conduction ... | Neurodegenerative disease |
(CMT1A/1E) PMP22 [HSA:5376] [KO:K19289] (CMT1B/2I/2J/4E) MPZ [HSA:4359] [KO:K06770] (CMT1C) LITAF [HSA:9516] [KO:K19363] (CMT1D/4E) EGR2 [HSA:1959] [KO:K12496] (CMT1F/2E/DIG) NEFL [HSA:4747] [KO:K04572] (CMT1G) PMP2 [HSA:5375] [KO:K24977] (CMT1H) FBLN5 [HSA:10516] [KO:K17340] (CMT1I) POLR3B [HSA:55703] [KO:K03021] (CMT1J) ITPR3 [HSA:3710] [KO:K04960] (CMT2A1) KIF1B [HSA:23095] [KO:K10392] (CMT2A2/6) MFN2 [HSA:9927] [KO:K06030] (CMT2B) RAB7A [HSA:7879] [KO:K07897] (CMT2B1) LMNA [HSA:4000] [KO:K12641] (CMT2B2) PNKP [HSA:11284] [KO:K08073] (CMT2C) TRPV4 [HSA:59341] [KO:K04973] (CMT2CC) NEFH [HSA:4744] [KO:K04574] (CMT2D) GARS1 [HSA:2617] [KO:K01880] (CMT2DD) ATP1A1 [HSA:476] [KO:K01539] (CMT2EE) MPV17 [HSA:4358] [KO:K13348] (CMT2F) HSPB1 [HSA:3315] [KO:K04455] (CMT2FF) CADM3 [HSA:57863] [KO:K06780] (CMT2GG) GBF1 [HSA:8729] [KO:K18443] (CMT2HH) JAG1 [HSA:182] [KO:K06052] (CMT2II) SLC12A6 [HSA:9990] [KO:K14427] (CMT2K/4A/RIA) GDAP1 [HSA:54332] [KO:K22077] (CMT2K) JPH1 [HSA:56704] [KO:K19530] (CMT2L) HSPB8 [HSA:26353] [KO:K08879] (CMT2M/DIB) DNM2 [HSA:1785] [KO:K23484] (CMT2N) AARS1 [HSA:16] [KO:K01872] (CMT2O) DYNC1H1 [HSA:1778] [KO:K10413] (CMT2P) LRSAM1 [HSA:90678] [KO:K10641] (CMT2Q) DHTKD1 [HSA:55526] [KO:K15791] (CMT2R) TRIM2 [HSA:23321] [KO:K11997] (CMT2S) IGHMBP2 [HSA:3508] [KO:K19036] (CMT2T) MME [HSA:4311] [KO:K01389] (CMT2U) MARS1 [HSA:4141] [KO:K01874] (CMT2V) NAGLU [HSA:4669] [KO:K01205] (CMT2W) HARS1 [HSA:3035] [KO:K01892] (CMT2X) SPG11 [HSA:80208] [KO:K19026] (CMT2Y) VCP [HSA:7415] [KO:K13525] (CMT2Z) MORC2 [HSA:22880] [KO:K24135] (CMT4B1) MTMR2 [HSA:8898] [KO:K18081] (CMT4B2) SBF2 [HSA:81846] [KO:K18061] (CMT4B3) SBF1 [HSA:6305] [KO:K18061] (CMT4C/MNMN) SH3TC2 [HSA:79628] [KO:K24313] (CMT4D) NDRG1 [HSA:10397] [KO:K18266] (CMT4F) PRX [HSA:57716] [KO:K27395] (CMT4H) FGD4 [HSA:121512] [KO:K05723] (CMT4J) FIG4 [HSA:9896] [KO:K22913] (CMT4K) SURF1 [HSA:6834] [KO:K14998] (CMT6B) SLC25A46 [HSA:91137] [KO:K03454] (CMT6C) PDXK [HSA:8566] [KO:K00868] (CMTX1) GJB1 [HSA:2705] [KO:K07620] (CMTX5) PRPS1 [HSA:5631] [KO:K00948] (CMTX6) PDK3 [HSA:5165] [KO:K00898] (CMTDIC) YARS1 [HSA:8565] [KO:K01866] (CMTDIE) INF2 [HSA:64423] [KO:K23958] (CMTDIF) GNB4 [HSA:59345] [KO:K04538] (CMTRIB) KARS1 [HSA:3735] [KO:K04567] (CMTRIC) PLEKHG5 [HSA:57449] [KO:K19464] (CMTRID) COX6A1 [HSA:1337] [KO:K02266] |
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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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H00269 | Primary microcephaly | Autosomal recessive primary microcephaly (MCPH) is a neurodevelopmental disorder characterized by reduced skull circumference and brain volume. | Congenital malformation |
(MCPH1) MCPH1 [HSA:79648] [KO:K19403] (MCPH2) WDR62 [HSA:284403] [KO:K21762] (MCPH3) CDK5RAP2 [HSA:55755] [KO:K16542] (MCPH4) KNL1 [HSA:57082] [KO:K11542] (MCPH5) ASPM [HSA:259266] [KO:K16743] (MCPH6) CENPJ [HSA:55835] [KO:K11502] (MCPH7) STIL [HSA:6491] [KO:K16724] (MCPH8) CEP135 [HSA:9662] [KO:K16461] (MCPH9) CEP152 [HSA:22995] [KO:K16728] (MCPH10) ZNF335 [HSA:63925] [KO:K24371] (MCPH11) PHC1 [HSA:1911] [KO:K11456] (MCPH12) CDK6 [HSA:1021] [KO:K02091] (MCPH13) CENPE [HSA:1062] [KO:K11498] (MCPH14) SASS6 [HSA:163786] [KO:K16487] (MCPH15) MFSD2A [HSA:84879] [KO:K23894] (MCPH16) ANKLE2 [HSA:23141] [KO:K21412] (MCPH17) CIT [HSA:11113] [KO:K16308] (MCPH18) WDFY3 [HSA:23001] [KO:K22262] (MCPH19) COPB2 [HSA:9276] [KO:K17302] (MCPH20) KIF14 [HSA:9928] [KO:K17915] (MCPH21) NCAPD2 [HSA:9918] [KO:K06677] (MCPH22) NCAPD3 [HSA:23310] [KO:K11491] (MCPH23) NCAPH [HSA:23397] [KO:K06676] (MCPH24) NUP37 [HSA:79023] [KO:K14302] (MCPH25) TRAPPC14 [HSA:55262] [KO:K24261] (MCPH26) LMNB1 [HSA:4001] [KO:K07611] (MCPH27) LMNB2 [HSA:84823] [KO:K07611] (MCPH28) RRP7A [HSA:27341] [KO:K14545] (MCPH29) PDCD6IP [HSA:10015] [KO:K12200] (MCPH30) BUB1 [HSA:699] [KO:K02178] |
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H00351 | Chlamydial pneumonia | Chlamydophila (Cp.) pneumoniae is an obligate intracellular bacteria that causes human respiratory infections. Most acute respiratory infections are asymptomatic or mildly symptomatic. Repeated or prolonged ... | Bacterial infectious disease | ||
H00407 | Peroxisomal beta-oxidation enzyme deficiency | ... (ACOX1), 2-methylacyl CoA racemase (AMACR), D-bifunctional protein (DBP) and sterol carrier protein X (SCPx). It is known that some types of fatty acids including very-long-chain fatty acids (VLCFA), branched-chain ... | Inherited metabolic disorder |
ACOX1 [HSA:51] [KO:K00232] HSD17B4 [HSA:3295] [KO:K12405] AMACR [HSA:23600] [KO:K01796] SCP2 [HSA:6342] [KO:K08764] |
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H00418 | Bardet-Biedl syndrome | Bardet-Biedl syndrome (BBS) is a rare autosomal recessive disorder with genetic heterogeneity characterized by defects in multiple organ systems. The main features are retinal degeneration, obesity, hypogonadism ... | Inherited metabolic disorder |
(BBS1) BBS1 [HSA:582] [KO:K16746] (BBS2) BBS2 [HSA:583] [KO:K16747] (BBS3) ARL6 [HSA:84100] [KO:K07951] (BBS4) BBS4 [HSA:585] [KO:K16531] (BBS5) BBS5 [HSA:129880] [KO:K16748] (BBS6) MKKS [HSA:8195] [KO:K09492] (BBS7) BBS7 [HSA:55212] [KO:K16749] (BBS8) TTC8 [HSA:123016] [KO:K16781] (BBS9) BBS9 [HSA:27241] [KO:K19398] (BBS10) BBS10 [HSA:79738] [KO:K19401] (BBS11) TRIM32 [HSA:22954] [KO:K10607] (BBS12) BBS12 [HSA:166379] [KO:K19402] (BBS13) MKS1 [HSA:54903] [KO:K19332] (BBS14) CEP290 [HSA:80184] [KO:K16533] (BBS15) WDPCP [HSA:51057] [KO:K22863] (BBS16) SDCCAG8 [HSA:10806] [KO:K16488] (BBS17) LZTFL1 [HSA:54585] [KO:K19400] (BBS18) BBIP1 [HSA:92482] [KO:K19399] (BBS19) IFT27 [HSA:11020] [KO:K07934] (BBS20) IFT172 [HSA:26160] [KO:K19676] (BBS21) CFAP418 [HSA:157657] [KO:K25226] (BBS22) IFT74 [HSA:80173] [KO:K19679] |
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H00440 | Rett syndrome | ... communication dysfunction, psychomotor regression, seizures and stereotypical hand movements. Mutations in MECP2 are identified in most patients with classic Rett syndrome. Recently, mutations in FOXG1 gene have ... | Nervous system disease |
MECP2 [HSA:4204] [KO:K11588] FOXG1 [HSA:2290] [KO:K09385] |
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H00454 | Oral-facial-digital syndrome | Oral-facial-digital syndrome is a group of heterogeneous disorders characterized by malformations of the face, oral cavity and digits. OFD type I is a male lethal disorder and due to mutations in the OFD1 ... | Congenital malformation |
(OFD1) OFD1 [HSA:8481] [KO:K16480] (OFD4) TCTN3 [HSA:26123] [KO:K19382] (OFD5) DDX59 [HSA:83479] [KO:K19466] (OFD6) CPLANE1 [HSA:65250] [KO:K22859] (OFD14) C2CD3 [HSA:26005] [KO:K16751] (OFD15) JBTS38 [HSA:9851] [KO:K21765] (OFD16) TMEM107 [HSA:84314] [KO:K22764] (OFD17) INTU [HSA:27152] [KO:K22862] (OFD18) IFT57 [HSA:55081] [KO:K04638] (OFD19) SCNM1 [HSA:79005] [KO:K24827] (OFD20) RAB34 [HSA:83871] [KO:K07921] |
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H00478 | Prader-Willi syndrome | ... Lack of a functional paternal copy of 15q11-q13 causes PWS. Additionally, it has been reported that MECP2 deficiency leads to decreased expression of UBE3A. PWS and AS have characteristic neurologic, developmental ... | Chromosomal abnormality |
NDN [HSA:4692] [KO:K19482] SNRPN [HSA:6638] [KO:K11100] NPAP1 [HSA:23742] [KO:K26564] |
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H00525 | Disorders of mitochondrial fatty-acid oxidation | Disorders of mitochondrial fatty-acid oxidation are a group of rare inherited conditions that lead to accumulation of fatty acids and decreases in cell energy metabolism due to enzyme or transporter defects ... | Inherited metabolic disorder |
(MCAD) ACADM [HSA:34] [KO:K00249] (SCAD) ACADS [HSA:35] [KO:K00248] (VLCAD) ACADVL [HSA:37] [KO:K09479] (MTP) HADHA [HSA:3030] [KO:K07515] (MTP) HADHB [HSA:3032] [KO:K07509] (CPT I) CPT1A [HSA:1374] [KO:K08765] (CPT II) CPT2 [HSA:1376] [KO:K08766] (CACT) SLC25A20 [HSA:788] [KO:K15109] (CDSP) SLC22A5 [HSA:6584] [KO:K08202] (HAD) HADH [HSA:3033] [KO:K00022] (DECR) NADK2 [HSA:133686] [KO:K00858] (ACAD9) ACAD9 [HSA:28976] [KO:K15980] (ECHS1) ECHS1 [HSA:1892] [KO:K07511] |
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H00526 |
Camptodactyly-arthropathy-coxa vara-pericarditis syndrome Jacobs syndrome |
The camptodactyly-arthropathy-coxa vara-pericarditis syndrome (CACP) is an autosomal recessive disorder caused by mutations in the Proteoglycan 4 (PRG4), a chondroitin sulfate proteoglycan that acts as ... | Congenital malformation | PRG4 [HSA:10216] [KO:K24286] | |
H00530 | Joubert syndrome and related disorders | Joubert syndrome (JBTS) and related disorders are a group of multiple congenital anomaly syndromes characterized by 'molar tooth sign', a specific midbrain-hindbrain malformation seen in brain images. ... | Congenital malformation |
(JBTS1) INPP5E [HSA:56623] [KO:K20278] (JBTS2) TMEM216 [HSA:51259] [KO:K19385] (JBTS3) AHI1 [HSA:54806] [KO:K16740] (JBTS4) NPHP1 [HSA:4867] [KO:K19657] (JBTS5) CEP290 [HSA:80184] [KO:K16533] (JBTS6) TMEM67 [HSA:91147] [KO:K19348] (JBTS7) RPGRIP1L [HSA:23322] [KO:K16550] (JBTS8) ARL13B [HSA:200894] [KO:K07962] (JBTS9) CC2D2A [HSA:57545] [KO:K19352] (JBTS10) OFD1 [HSA:8481] [KO:K16480] (JBTS11) TTC21B [HSA:79809] [KO:K19673] (JBTS12) KIF7 [HSA:374654] [KO:K18806] (JBTS13) TCTN1 [HSA:79600] [KO:K19382] (JBTS14) TMEM237 [HSA:65062] [KO:K22765] (JBTS15) CEP41 [HSA:95681] [KO:K16455] (JBTS16) TMEM138 [HSA:51524] [KO:K22867] (JBTS17) CPLANE1 [HSA:65250] [KO:K22859] (JBTS18) TCTN3 [HSA:26123] [KO:K19382] (JBTS19) ZNF423 [HSA:23090] [KO:K22870] (JBTS20) TMEM231 [HSA:79583] [KO:K19362] (JBTS21) CSPP1 [HSA:79848] [KO:K16771] (JBTS22) PDE6D [HSA:5147] [KO:K13758] (JBTS23) JBTS23 [HSA:9786] [KO:K22865] (JBTS24) TCTN2 [HSA:79867] [KO:K19361] (JBTS25) CEP104 [HSA:9731] [KO:K16458] (JBTS26) KATNIP [HSA:23247] [KO:K22858] (JBTS27) B9D1 [HSA:27077] [KO:K16744] (JBTS28) MKS1 [HSA:54903] [KO:K19332] (JBTS29) TMEM107 [HSA:84314] [KO:K22764] (JBTS30) ARMC9 [HSA:80210] [KO:K22864] (JBTS31) CEP120 [HSA:153241] [KO:K16459] (JBTS32) SUFU [HSA:51684] [KO:K06229] (JBTS33) PIBF1 [HSA:10464] [KO:K16538] (JBTS34) B9D2 [HSA:80776] [KO:K16745] (JBTS35) ARL3 [HSA:403] [KO:K07944] (JBTS36) FAM149B1 [HSA:317662] [KO:K24653] (JBTS37) TOGARAM1 [HSA:23116] [KO:K24886] (JBTS38) JBTS38 [HSA:9851] [KO:K21765] (JBTS39) TMEM218 [HSA:219854] [KO:K26674] (JBTS40) IFT74 [HSA:80173] [KO:K19679] |
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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] |
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H00615 | Amelogenesis imperfecta | Amelogenesis imperfecta (AI) represents a heterogeneous group of inherited disorders characterized by very thin dental enamel. Defects in mineralization or matrix formation during tooth development lead ... | Congenital malformation |
(AI1A) LAMB3 [HSA:3914] [KO:K06244] (AI1B/C) ENAM [HSA:10117] [KO:K23444] (AI1E) AMELX [HSA:265] [KO:K23443] (AI1F) AMBN [HSA:258] [KO:K23442] (AI1G) FAM20A [HSA:54757] [KO:K21957] (AI1H) ITGB6 [HSA:3694] [KO:K06589] (AI1J) ACP4 [HSA:93650] [KO:K19284] (AI1K) SP6 [HSA:80320] [KO:K09196] (AI2A1) KLK4 [HSA:9622] [KO:K08666] (AI2A2) MMP20 [HSA:9313] [KO:K07999] (AI2A3) WDR72 [HSA:256764] [KO:K24753] (AI2A4) ODAPH [HSA:152816] [KO:K24398] (AI2A5) SLC24A4 [HSA:123041] [KO:K13752] (AI2A6) GPR68 [HSA:8111] [KO:K08408] (AI3A) FAM83H [HSA:286077] [KO:K23931] (AI3B) AMTN [HSA:401138] [KO:K25225] (AI3C) RELT [HSA:84957] [KO:K05156] |
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H00627 | Premature ovarian failure | Premature ovarian failure (POF) is characterized by amenorrhea before the age of 40 years with elevated levels of gonadotrophin (LH and FSH) and low levels of gonadal hormones (estrogens and inhibins) ... | Reproductive system disease |
(POF1) FMR1 [HSA:2332] [KO:K15516] (POF2A) DIAPH2 [HSA:1730] [KO:K05741] (POF2B) POF1B [HSA:79983] [KO:K23917] (POF3) FOXL2 [HSA:668] [KO:K09405] (POF4) BMP15 [HSA:9210] [KO:K05498] (POF5) NOBOX [HSA:135935] [KO:K24199] (POF6) FIGLA [HSA:344018] [KO:K09066] (POF7) NR5A1 [HSA:2516] [KO:K08560] (POF8) STAG3 [HSA:10734] [KO:K13055] (POF9) HFM1 [HSA:164045] [KO:K15271] (POF10) MCM8 [HSA:84515] [KO:K10737] (POF11) ERCC6 [HSA:2074] [KO:K10841] (POF12) SYCE1 [HSA:93426] [KO:K19534] (POF13) MSH5 [HSA:4439] [KO:K08741] (POF14) GDF9 [HSA:2661] [KO:K22673] (POF15) FANCM [HSA:57697] [KO:K10896] (POF16) BNC1 [HSA:646] [KO:K24146] (POF17) XRCC2 [HSA:7516] [KO:K10879] (POF18) C14orf39 [HSA:317761] [KO:K25705] (POF19) HSF2BP [HSA:11077] [KO:K25791] (POF20) MSH4 [HSA:4438] [KO:K08740] (POF21) TP63 [HSA:8626] [KO:K10149] (POF22) KASH5 [HSA:147872] [KO:K22595] (POF23) MEIOB [HSA:254528] [KO:K22420] (POF24) SYCP2L [HSA:221711] |
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H00656 | Scapuloperoneal myopathy | Scapuloperoneal syndrome encompasses a heterogeneous group of neuromuscular disorders all characterized by slowly progressive weakness in the shoulder-girdle and peroneal muscles. Both neurogenic and myopathic ... | Nervous system disease; Musculoskeletal disease |
(SPMM) MYH7 [HSA:4625] [KO:K17751] (SCPNK) DES [HSA:1674] [KO:K07610] (SPM) FHL1 [HSA:2273] [KO:K14365] |
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H00658 |
X-linked syndromic intellectual developmental disorder Syndromic X-linked mental retardation |
X-linked intellectual developmental disorder (XLID), formerly known as X-linked mental retardation, is an inherited condition that causes failure to develop cognitive abilities because of mutations in ... | Mental and behavioural disorder |
(MRXST) HUWE1 [HSA:10075] [KO:K10592] (MRXSSD) PHF8 [HSA:23133] [KO:K19415] (MRXSC) CUL4B [HSA:8450] [KO:K10609] (MRXSR) ZDHHC9 [HSA:51114] [KO:K25778] (MRXSH) ATP6AP2 [HSA:10159] [KO:K19514] (MRXSCJ) KDM5C [HSA:8242] [KO:K11446] (MRXSW) GRIA3 [HSA:2892] [KO:K05199] (MRXSB) HNRNPH2 [HSA:3188] [KO:K12898] (MRXSHG) CNKSR2 [HSA:22866] [KO:K17536] (MRXSN) UBE2A [HSA:7319] [KO:K10573] (MRXSBA) MSL3 [HSA:10943] [KO:K18403] (MRXSA) FAM50A [HSA:9130] [KO:K13119] (MRXSHD) NKAP [HSA:79576] [KO:K25931] (MRXSPM) HS6ST2 [HSA:90161] [KO:K08102] (VEODS) POLA1 [HSA:5422] [KO:K02320] (MRGH) SOX3 [HSA:6658] [KO:K09267] (MRX60) OPHN1 [HSA:4983] [KO:K20650] (MRXSRC) CLCN4 [HSA:1183] [KO:K05012] (MRXSSB) DDX3X [HSA:1654] [KO:K11594] (MRXSP) GLRA2 [HSA:2742] [KO:K05194] (TOKAS) RLIM [HSA:51132] [KO:K16271] (PGS) AP1S2 [HSA:8905] [KO:K12394] (MRXS11) RBMX [HSA:27316] [KO:K12885] (MRXS13) MECP2 [HSA:4204] [KO:K11588] (MRXS14) UPF3B [HSA:65109] [KO:K14328] (MRXS32) CLIC2 [HSA:1193] [KO:K05022] (MRXS33) TAF1 [HSA:6872] [KO:K03125] (MRXS34) NONO [HSA:4841] [KO:K13214] (MRXS35) RPL10 [HSA:6134] [KO:K02866] (MRXS37) ZFX [HSA:7543] [KO:K27541] |
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H00676 | Congenital primary aphakia | Congenital primary aphakia (CPA) is a rare congenital eye disorder characterized by the absence of lens. Formation of lens and lens-induced anterior structures does not take place in CPA, resulting in ... | Congenital malformation | FOXE3 [HSA:2301] [KO:K09398] | |
H00783 | Febrile seizures | Febrile seizures (FS), or febrile convulsions (FEB), are acute symptomatic seizures that occur in response to fever and represent the most common form of childhood seizures. Generalized epilepsy with febrile ... | 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] |
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H00805 | Vitreoretinal degeneration | ... COL18A1. In addition to Stickler syndrome and other chondrodysplasias, enhanced S-cone syndrome (ESCS) and autosomal dominant vitreoretinochoroidopathy (VRCP) are associated with vitreoretinal degeneration. | Nervous system disease |
(STL1) COL2A1 [HSA:1280] [KO:K19719] (STL2) COL11A1 [HSA:1301] [KO:K19721] (SVD) KCNJ13 [HSA:3769] [KO:K05006] (WGVRP) VCAN [HSA:1462] [KO:K06793] (KNO1) COL18A1 [HSA:80781] [KO:K06823] (ESCS) NR2E3 [HSA:10002] [KO:K08546] (VRCP) BEST1 [HSA:7439] [KO:K13878] |
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H00809 | Familial epilepsy temporal lobe (ETL) | Autosomal dominant lateral temporal epilepsy (ADLTE) or autosomal dominant partial epilepsy with auditory features (ADPEAF) is an inherited epilepsy syndrome characterized by onset in adolescence or early ... | Nervous system disease |
(ETL1) LGI1 [HSA:9211] [KO:K25428] (ETL5) CPA6 [HSA:57094] [KO:K08782] (ETL7) RELN [HSA:5649] [KO:K06249] (ETL8) GAL [HSA:51083] [KO:K05244] |
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H00816 | Agenesis of the corpus callosum with peripheral neuropathy | Agenesis of the corpus callosum with peripheral neuropathy (ACCPN) is a severe neurodegenerative disorder that is transmitted as an autosomal recessive trait. It is associated with mental retardation, ... | Nervous system disease | SLC12A6 [HSA:9990] [KO:K14427] | |
H00874 |
Leukoencephalopathy with dystonia and motor neuropathy Sterol carrier protein 2 deficiency |
... with dystonia and motor neuropathy is a disorder caused by a deficiency of sterol carrier protein-2 (SCPx), a peroxisomal enzyme with thiolase activity, which is required for the breakdown of branched-chain ... | Inherited metabolic disorder, Peroxisomal disease | SCP2 [HSA:6342] [KO:K08764] | |
H00890 | Azoospermia | ... caused by failure of spermatogenesis. Y-linked gene USP9Y has been implicated in moderate oligoasthenoteratozoospermia and azoospermia. SYCP3 mutations lead to complete infertility due to meiotic arrest. | Reproductive system disease |
(SPGFY2) USP9Y [HSA:8287] [KO:K11840] (SPGF4) SYCP3 [HSA:50511] [KO:K19528] (OAZON) CLDN2 [HSA:9075] [KO:K06087] |
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H00932 | Tropical calcific pancreatitis | Tropical calcific pancreatitis (TCP) is a subtype of chronic pancreatitis unique to developing countries in tropical regions. Patients present with recurrent abdominal pain, nutritional deficiencies, and ... | Digestive system disease |
SPINK1 [HSA:6690] [KO:K23417] CTRC [HSA:11330] [KO:K01311] CTSB [HSA:1508] [KO:K01363] |
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H00990 | Microcephaly, Amish type | Microcephaly, Amish type (MCPHA) is a lethal, autosomal recessive condition characterized by severe congenital microcephaly, elevated levels of alpha-ketoglutarate in the urine, and premature death. This ... | Congenital malformation | SLC25A19 [HSA:60386] [KO:K15108] | |
H01007 | Choroid plexus papilloma | Choroid plexus tumors (CPTs) are rare intraventricular papillary neoplasms of neuroectodermal origin, accounting for less than 1% of all intracranial tumors and 2-4% of pediatric brain tumors. CPTs are ... | Nervous system disease | p53 [HSA:7157] [KO:K04451] | |
H01019 | Catecholaminergic polymorphic ventricular tachycardia | Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a highly lethal form of inherited primary electrical myocardial disease characterized by exercise- and stress-related adrenergic ventricular ... | Cardiovascular disease |
(CPVT1) RYR2 [HSA:6262] [KO:K04962] (CPVT2) CASQ2 [HSA:845] [KO:K23445] (CPVT3) TECRL [HSA:253017] [KO:K24219] (CPVT4) CALM1 [HSA:801] [KO:K02183] (CPVT5) TRDN [HSA:10345] [KO:K23449] (CPVT6) CALM3 [HSA:808] [KO:K02183] |
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H01032 | N-acetylglutamate synthase deficiency | ... absolutely required allosteric activator of the first urea cycle enzyme carbamoylphosphate synthetase 1 (CPS1). In defects of NAGS, the urea cycle function can be severely affected resulting in fatal hyperammonemia ... | Inherited metabolic disorder | NAGS [HSA:162417] [KO:K11067] | |
H01097 | Spastic quadriplegic cerebral palsy | Spastic quadriplegic cerebral palsy (CPSQ) is a heterogeneous group of neurodevelopmental brain disorders resulting in motor and posture impairments often associated with cognitive, sensorial, and behavioural ... | Nervous system disease |
(CPSQ1) GAD1 [HSA:2571] [KO:K01580] (CPSQ2) KANK1 [HSA:23189] [KO:K22808] (CPSQ3) ADD3 [HSA:120] [KO:K18622] |
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H01113 | Acid phosphatase deficiency | Acid phosphatase deficiency is caused by defects in ACP2, that encodes the beta subunit of lysosomal acid phosphatase. The clinical features are intermittent vomiting, hypotonia, lethargy, opisthotonos ... | Inherited metabolic disorder, Lysosomal disease | ACP2 [HSA:53] [KO:K14410] | |
H01136 | Carboxypeptidase N deficiency | Carboxypeptidase N (CPN) is a plasma zinc metalloprotease that inactivates C3a, C4a, C5a, bradykinin, kalladin, and fibrinopeptides. CPN has been implicated as a major regulator of inflammation. Although ... | Immune system disease | CPN1 [HSA:1369] [KO:K01292] |
[ KEGG | DISEASE | DRUG | MEDICUS ] |