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Entry | Name | Description | Category | Pathway | Gene |
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H00058 |
Amyotrophic lateral sclerosis (ALS) Lou Gehrig disease |
... remaining 10% of cases show familial inheritance, with mutations in SOD1, TDP43(TARDBP), FUS, or C9orf72 genes being the most frequent causes. In spite of such difference, familial ALS and sporadic ALS ... | Neurodegenerative disease | hsa05014 Amyotrophic lateral sclerosis |
(ALS1) SOD1 [HSA:6647] [KO:K04565] (ALS1) NEFH [HSA:4744] [KO:K04574] (ALS1) PRPH [HSA:5630] [KO:K07607] (ALS1) DCTN1 [HSA:1639] [KO:K04648] (ALS2) ALS2 [HSA:57679] [KO:K04575] (ALS4) SETX [HSA:23064] [KO:K10706] (ALS5) SPG11 [HSA:80208] [KO:K19026] (ALS6) FUS [HSA:2521] [KO:K13098] (ALS8) VAPB [HSA:9217] [KO:K10707] (ALS9) ANG [HSA:283] [KO:K16631] (ALS10) TARDBP [HSA:23435] [KO:K23600] (ALS11) FIG4 [HSA:9896] [KO:K22913] (ALS12) OPTN [HSA:10133] [KO:K19946] (ALS15) UBQLN2 [HSA:29978] [KO:K04523] (ALS16) SIGMAR1 [HSA:10280] [KO:K20719] (ALS18) PFN1 [HSA:5216] [KO:K05759] (ALS19) ERBB4 [HSA:2066] [KO:K05085] (ALS20) HNRNPA1 [HSA:3178] [KO:K12741] (ALS21) MATR3 [HSA:9782] [KO:K13213] (ALS22) TUBA4A [HSA:7277] [KO:K07374] (ALS23) ANXA11 [HSA:311] [KO:K17095] (ALS24) NEK1 [HSA:4750] [KO:K08857] (ALS25) KIF5A [HSA:3798] [KO:K10396] (ALS26) TIA1 [HSA:7072] [KO:K13201] (ALS27) SPTLC1 [HSA:10558] [KO:K00654] (ALS28) LRP12 [HSA:29967] [KO:K20050] (ALSPDC) TRPM7 [HSA:54822] [KO:K04982] (ALSPDC) MAPT [HSA:4137] [KO:K04380] |
H00096 | Defects of toll-like receptor signaling | Human interleukin (IL) 1 receptor-associated kinase 4 (IRAK-4) deficiency is a primary immunodeficiency that impairs Toll/IL-1R immunity, except for the Toll-like receptor (TLR) 3- and TLR4-interferon ... | Primary immunodeficiency |
(IMD67) IRAK4 [HSA:51135] [KO:K04733] (IMD39) IRF7 [HSA:3665] [KO:K09447] (IMD74) TLR7 [HSA:51284] [KO:K05404] (IMD98) TLR8 [HSA:51311] [KO:K10170] |
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H00263 | Acrocallosal syndrome | Acrocallosal syndrome (ACLS) is an autosomal recessive condition, characterized by agenesis of the corpus callosum, polydactyly, minor craniofacial anomalies and psychomotor retardation. | Congenital malformation | KIF7 [HSA:374654] [KO:K18806] | |
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] |
H00480 |
X-linked intellectual developmental disorder 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 |
(XLID1) IQSEC2 [HSA:23096] [KO:K12495] (XLID3) HCFC1 [HSA:3054] [KO:K14966] (XLID9) FTSJ1 [HSA:24140] [KO:K14864] (XLID12) THOC2 [HSA:57187] [KO:K12879] (XLID19) RPS6KA3 [HSA:6197] [KO:K04373] (XLID21) IL1RAPL1 [HSA:11141] [KO:K05170] (XLID29) ARX [HSA:170302] [KO:K09452] (XLID30) PAK3 [HSA:5063] [KO:K05733] (XLID41) GDI1 [HSA:2664] [KO:K17255] (XLID58) TSPAN7 [HSA:7102] [KO:K06571] (XLID63) ACSL4 [HSA:2182] [KO:K01897] (XLID72) RAB39B [HSA:116442] [KO:K07925] (XLID90) DLG3 [HSA:1741] [KO:K21098] (XLID93) BRWD3 [HSA:254065] [KO:K11798] (XLID96) SYP [HSA:6855] (XLID97) ZNF711 [HSA:7552] [KO:K24376] (XLID98) NEXMIF [HSA:340533] [KO:K25862] (XLID99) USP9X [HSA:8239] [KO:K11840] (XLID100) KIF4A [HSA:24137] [KO:K10395] (XLID101) MID2 [HSA:11043] [KO:K10647] (XLID103) KLHL15 [HSA:80311] [KO:K10452] (XLID104) FRMPD4 [HSA:9758] [KO:K23956] (XLID105) USP27X [HSA:389856] [KO:K11366] (XLID106) OGT [HSA:8473] [KO:K09667] (XLID107) STEEP1 [HSA:63932] [KO:K24996] (XLID108) SLC9A7 [HSA:84679] [KO:K12041] (XLID109) AFF2 [HSA:2334] [KO:K15194] (XLID110) FGF13 [HSA:2258] [KO:K22413] (XLID111) SLITRK2 [HSA:84631] [KO:K25833] (XLID112) ZMYM3 [HSA:9203] [KO:K24675] (XLID113) CSTF2 [HSA:1478] [KO:K14407] |
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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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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] |
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H00795 | Seborrhea-like dermatitis with psoriasiform element | ... Enhanced keratinocyte proliferation and dermal infiltration of inflammatory cells are observed in the disease. Mutations in ZNF750, which encodes a putative C2H2 zinc finger protein, have been reported. | Immune system disease; Skin disease | ZNF750 [HSA:79755] [KO:K24377] | |
H01109 |
Chronic mucocutaneous candidiasis Familial candidiasis (CANDF) |
Chronic mucocutaneous candidiasis (CMC) is manifested as a primary immunodeficiency characterized by persistent or recurrent infections of the mucosa or the skin with candida species. Most cases are sporadic ... | Immune system disease |
(CANDF2) CARD9 [HSA:64170] [KO:K12794] (CANDF4) CLEC7A [HSA:64581] [KO:K10074] (CANDF5) IL17RA [HSA:23765] [KO:K05164] (CANDF6) IL17F [HSA:112744] [KO:K05494] (CANDF7) STAT1 [HSA:6772] [KO:K11220] (CANDF8) TRAF3IP2 [HSA:10758] [KO:K21124] (CANDF9) IL17RC [HSA:84818] [KO:K05166] |
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H01265 | Hydrolethalus syndrome | ... midline structures of the brain, micrognathia and polydactyly. HLS is caused by mutations in HYLS1 and KIF7. Both genes code for ciliary or centriolar proteins that seem to be involved in early embryonic development ... | Congenital malformation |
(HLS1) HYLS1 [HSA:219844] [KO:K16472] (HLS2) KIF7 [HSA:374654] [KO:K18806] |
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H01267 | Familial hyperinsulinemic hypoglycemia | Familial hyperinsulinemic hypoglycemia (HHF) is the most common cause of persistent hypoglycemia in infancy. Recent studies on the molecular basis of the disease have disclosed specific genetic defects ... | Inherited metabolic disorder |
(HHF1/ LIH) ABCC8 [HSA:6833] [KO:K05032] (HHF2) KCNJ11 [HSA:3767] [KO:K05004] (HHF3) GCK [HSA:2645] [KO:K12407] (HHF4) HADH [HSA:3033] [KO:K00022] (HHF5) INSR [HSA:3643] [KO:K04527] (HHF6) GLUD1 [HSA:2746] [KO:K00261] (HHF7) SLC16A1 [HSA:6566] [KO:K08179] (HHF8) SLC25A36 [HSA:55186] [KO:K15116] |
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H01282 | Spermatogenic failure | Spermatogenic failure is reflected in a lower or absent production of spermatozoa and is described by routine semen analysis using terms such as azoospermia, oligozoospermia, teratozoospermia or asthenozoospermia ... | Reproductive system disease |
(SPGF1) SYCP2 [HSA:10388] [KO:K19529] (SPGF3) SLC26A8 [HSA:116369] [KO:K14705] (SPGF4) SYCP3 [HSA:50511] [KO:K19528] (SPGF5) AURKC [HSA:6795] [KO:K11480] (SPGF6) SPATA16 [HSA:83893] [KO:K26121] (SPGF7) CATSPER1 [HSA:117144] [KO:K16889] (SPGF8) NR5A1 [HSA:2516] [KO:K08560] (SPGF9) DPY19L2 [HSA:283417] [KO:K24553] (SPGF10) SEPTIN12 [HSA:124404] [KO:K16938] (SPGF11) KLHL10 [HSA:317719] [KO:K10448] (SPGF12) NANOS1 [HSA:340719] [KO:K18741] (SPGF13) TAF4B [HSA:6875] [KO:K03129] (SPGF14) ZMYND15 [HSA:84225] [KO:K24081] (SPGF15) SYCE1 [HSA:93426] [KO:K19534] (SPGF16) SUN5 [HSA:140732] [KO:K21876] (SPGF17) PLCZ1 [HSA:89869] [KO:K05861] (SPGF18) DNAH1 [HSA:25981] [KO:K10408] (SPGF19) CFAP43 [HSA:80217] [KO:K24223] (SPGF20) CFAP44 [HSA:55779] [KO:K24224] (SPGF21) BRDT [HSA:676] [KO:K11724] (SPGF22) MEIOB [HSA:254528] [KO:K22420] (SPGF23) TEX14 [HSA:56155] [KO:K17540] (SPGF24) CFAP69 [HSA:79846] [KO:K24227] (SPGF25) TEX15 [HSA:56154] [KO:K25680] (SPGF26) TSGA10 [HSA:80705] [KO:K25632] (SPGF27) AK7 [HSA:122481] [KO:K00939] (SPGF28) FANCM [HSA:57697] [KO:K10896] (SPGF29) SPINK2 [HSA:6691] [KO:K23418] (SPGF30) TDRD9 [HSA:122402] [KO:K18408] (SPGF31) PMFBP1 [HSA:83449] [KO:K23223] (SPGF32) SOHLH1 [HSA:402381] [KO:K22495] (SPGF33) CFAP251 [HSA:144406] [KO:K24228] (SPGF34) FSIP2 [HSA:401024] [KO:K26675] (SPGF35) QRICH2 [HSA:84074] [KO:K24298] (SPGF36) PPP2R3C [HSA:55012] [KO:K11583] (SPGF37) TTC21A [HSA:199223] [KO:K24178] (SPGF38) ARMC2 [HSA:84071] [KO:K24123] (SPGF39) DNAH17 [HSA:8632] [KO:K10408] (SPGF40) CFAP65 [HSA:255101] [KO:K24226] (SPGF41) CFAP70 [HSA:118491] [KO:K24932] (SPGF42) TTC29 [HSA:83894] [KO:K24937] (SPGF43) SPEF2 [HSA:79925] [KO:K25615] (SPGF44) CEP112 [HSA:201134] [KO:K16767] (SPGF45) DNAH2 [HSA:146754] [KO:K10408] (SPGF46) DNAH8 [HSA:1769] [KO:K10408] (SPGF47) DZIP1 [HSA:22873] [KO:K16470] (SPGF48) M1AP [HSA:130951] [KO:K26106] (SPGF49) CFAP58 [HSA:159686] [KO:K25554] (SPGF50) XRCC2 [HSA:7516] [KO:K10879] (SPGF51) CFAP91 [HSA:89876] [KO:K25461] (SPGF52) C14orf39 [HSA:317761] [KO:K25705] (SPGF53) ACTL9 [HSA:284382] (SPGF54) CATIP [HSA:375307] [KO:K25788] (SPGF55) SPAG17 [HSA:200162] [KO:K25533] (SPGF56) DNAH10 [HSA:196385] [KO:K10408] (SPGF57) PNLDC1 [HSA:154197] [KO:K01148] (SPGF58) IFT74 [HSA:80173] [KO:K19679] (SPGF59) TERB2 [HSA:145645] [KO:K25750] (SPGF60) TERB1 [HSA:283847] [KO:K25749] (SPGF61) STAG3 [HSA:10734] [KO:K13055] (SPGF62) RNF212 [HSA:285498] [KO:K25662] (SPGF63) RPL10L [HSA:140801] [KO:K02866] (SPGF64) FBXO43 [HSA:286151] [KO:K10318] (SPGF65) DNHD1 [HSA:144132] [KO:K26555] (SPGF66) ZPBP [HSA:11055] [KO:K25752] (SPGF67) CCDC62 [HSA:84660] [KO:K26436] (SPGF68) C2CD6 [HSA:151254] [KO:K25947] (SPGF69) GGN [HSA:199720] [KO:K26807] (SPGF70) PDHA2 [HSA:5161] [KO:K00161] (SPGF71) ZSWIM7 [HSA:125150] [KO:K25770] (SPGF72) WDR19 [HSA:57728] [KO:K19671] (SPGF73) MOV10L1 [HSA:54456] [KO:K13983] (SPGF74) MSH5 [HSA:4439] [KO:K08741] (SPGF75) SHOC1 [HSA:158401] (SPGF76) CCDC34 [HSA:91057] [KO:K16753] (SPGF77) FKBP6 [HSA:8468] [KO:K09572] (SPGF78) IQCN [HSA:80726] [KO:K26737] (SPGF79) KCNU1 [HSA:157855] [KO:K05274] (SPGF80) DRC1 [HSA:92749] [KO:K19754] (SPGF81) TEKT3 [HSA:64518] [KO:K18630] (SPGF82) AKAP3 [HSA:10566] [KO:K16520] (SPGF83) DNALI1 [HSA:7802] [KO:K10410] (SPGF84) CFAP61 [HSA:26074] [KO:K25460] (SPGF85) SPACA1 [HSA:81833] [KO:K25513] (SPGF86) ACTL7A [HSA:10881] (SPGF87) ACR [HSA:49] [KO:K01317] (SPGF88) KASH5 [HSA:147872] [KO:K22595] (SPGF89) AK9 [HSA:221264] [KO:K18533] (SPGF90) ARMC12 [HSA:221481] [KO:K24168] (SPGFX2) TEX11 [HSA:56159] [KO:K24574] (SPGFX3) CFAP47 [HSA:286464] [KO:K25552] (SPGFX4) GCNA [HSA:93953] [KO:K26957] (SPGFX5) SSX1 [HSA:6756] [KO:K15624] (SPGFX6) USP26 [HSA:83844] [KO:K11850] (SPGFX7) CT55 [HSA:54967] [KO:K25478] |
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H01556 | Meningioma | Meningiomas are the second-most common central nervous system tumor in adults. These tumors arise from arachnoid cells of the meninges, the covering layer of the brain. The majority of meningiomas tend ... | Cancer |
NF2 [HSA:4771] [KO:K16684] SMARCB1 [HSA:6598] [KO:K11648] SMARCE1 [HSA:6605] [KO:K11651] SUFU [HSA:51684] [KO:K06229] PTEN [HSA:5728] [KO:K01110] CDKN2A [HSA:1029] [KO:K06621] CDKN2B [HSA:1030] [KO:K04685] TRAF7 [HSA:84231] [KO:K10646] AKT1 [HSA:207] [KO:K04456] KLF4 [HSA:9314] [KO:K17846] SMO [HSA:6608] [KO:K06226] MN1 [HSA:4330] [KO:K22543] PDGFB [HSA:5155] [KO:K17386] |
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H01730 | Myocardial infarction | Myocardial infarction (MI) or acute myocardial infarction (AMI) is a term for an event of heart attack. It is due to formation of plaques in the interior walls of the arteries resulting in reduced blood ... | Cardiovascular disease |
ESR1 [HSA:2099] [KO:K08550] F13A1 [HSA:2162] [KO:K03917] F7 [HSA:2155] [KO:K01320] GCLC [HSA:2729] [KO:K11204] GCLM [HSA:2730] [KO:K11205] ITGB3 [HSA:3690] [KO:K06493] LRP8 [HSA:7804] [KO:K20052] LTA [HSA:4049] [KO:K05468] OLR1 [HSA:4973] [KO:K08763] PSMA6 [HSA:5687] [KO:K02730] TNFSF4 [HSA:7292] [KO:K05469] |
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H02256 |
Factor VII deficiency Hypoproconvertinemia |
... life, and individuals die shortly after birth due to severe hemorrhage. The majority of individuals with mutations in their F7 genes, however, are either asymptomatic or the clinical phenotype is unknown. | Hematologic disease | F7 [HSA:2155] [KO:K01320] | |
H02342 | Frontotemporal dementia and amyotrophic lateral sclerosis | ... genetically heterogeneous disorders. Mutations in the several genes and a repeat expansion in the C9orf72 gene have been reported to be associated with both diseases (FTDALS). Genes linked to both diseases ... | Nervous system disease |
(FTDALS1) C9orf72 [HSA:203228] [KO:K23609] (FTDALS2) CHCHD10 [HSA:400916] [KO:K22759] (FTDALS3) SQSTM1 [HSA:8878] [KO:K14381] (FTDALS4) TBK1 [HSA:29110] [KO:K05410] (FTDALS5) CCNF [HSA:899] [KO:K10289] (FTDALS6) VCP [HSA:7415] [KO:K13525] (FTDALS7) CHMP2B [HSA:25978] [KO:K12192] (FTDALS8) CYLD [HSA:1540] [KO:K08601] |
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H02715 | Neurodevelopmental disorder with defects of ubiquitin-proteasome system | The ubiquitin-proteasome system (UPS) is the major proteolytic system that controls protein degradation and it regulates many cellular processes, such as cell division, gene expression and signal transduction ... | Congenital malformation |
(NEDSG) UFC1 [HSA:51506] [KO:K12165] (NDHSAL) HECW2 [HSA:57520] [KO:K12168] (NEDAUS) CUL3 [HSA:8452] [KO:K03869] (NEDAMSS) IRF2BPL [HSA:64207] [KO:K22383] (NEDHMS) UBE4A [HSA:9354] [KO:K10596] (NEDSMB) UBE3C [HSA:9690] [KO:K10589] (NEDSSCC) HECTD4 [HSA:283450] [KO:K17849] (NEDMHAL) PSMB1 [HSA:5689] [KO:K02732] (STISS) PSMD12 [HSA:5718] [KO:K03035] (BKAH) PSMC1 [HSA:5700] [KO:K03062] (CAFDADD) TRAF7 [HSA:84231] [KO:K10646] |
[ KEGG | DISEASE | DRUG | MEDICUS ] |