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Entry | Name | Description | Category | Pathway | Gene |
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H00001 |
B-cell acute lymphoblastic leukemia B-cell acute lymphocytic leukemia |
... ETV6-RUNX1 fusion (TEL-AML1); the t(1;19) (q23;p13) translocation that results in expression of the TCF3 (E2A) fusion partner, (also known as TCF3) TFPT-PBX1 fusion (E2A-PBX); the t(9;22) (q34;q11.2) "Philadelphia" ... | Cancer |
BCR-ABL (translocation) [HSA:25] [KO:K06619] MLL-AF4 (translocation) [HSA:4297 4299] [KO:K09186 K15184] E2A-PBX1 (translocation) [HSA:6929 5087] [KO:K09063 K09355] TEL-AML1 (translocation) [HSA:861] [KO:K08367] c-MYC (rearrangement) [HSA:4609] [KO:K04377] CRLF2 (rearrangement) [HSA:64109] [KO:K05078] PAX5 (rearrangement) [HSA:5079] [KO:K09383] |
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H00041 | Kaposi sarcoma | Kaposi sarcoma (KS) is an angioproliferative disease classified into classic KS, endemic KS, iatrogenic KS, and HIV-associated KS (HIV-KS), however, they share the same histological traits and are all ... | Cancer; Viral infectious disease | hsa05167 Kaposi sarcoma-associated herpesvirus infection |
BCL2 (overexpression) [HSA:596] [KO:K02161] MYC (overexpression) [HSA:4609] [KO:K04377] FGF3 (overexpression, mutation) [HSA:2248] [KO:K04358] KRAS (overexpression, mutation) [HSA:3845] [KO:K07827] TP53 [HSA:7157] [KO:K04451] |
H00085 | Agammaglobulinemias | There are three major categories of antibody deficiencies: (a) defects in early B cell development, (b) hyper-IgM syndromes (also called class switch recombination defects), and (c) common variable immunodeficiency ... | Immune system disease |
(AGMX1) BTK [HSA:695] [KO:K07370] (AGMX2) SH3KBP1 [HSA:30011] [KO:K12470] (AGM2) IGLL1 [HSA:3543] [KO:K06554] (AGM3) CD79A [HSA:973] [KO:K06506] (AGM4) BLNK [HSA:29760] [KO:K07371] (AGM5) LRRC8A [HSA:56262] [KO:K22038] (AGM6) CD79B [HSA:974] [KO:K06507] (AGM7) PIK3R1 [HSA:5295] [KO:K02649] (AGM8A/8B) TCF3 [HSA:6929] [KO:K09063] (AGM9) SLC39A7 [HSA:7922] [KO:K14713] (AGM10) SPI1 [HSA:6688] [KO:K09438] |
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H00100 | Neutropenic disorders | Neutropenias represents a series of potentially life-threatening disorders characterised by a reduction in circulating neutrophils. Since neutrophils play a major role in host defense against bacteria ... | Primary immunodeficiency |
(SCN1) ELANE [HSA:1991] [KO:K01327] (SCN2/NI-CINA) GFI1 [HSA:2672] [KO:K09223] (SCN3) HAX1 [HSA:10456] [KO:K16220] (SCN4) G6PC3 [HSA:92579] [KO:K01084] (SCN5) VPS45 [HSA:11311] [KO:K12479] (SCN6) JAGN1 [HSA:84522] [KO:K25789] (SCN7) CSF3R [HSA:1441] [KO:K05061] (SCN8) SRP54 [HSA:6729] [KO:K03106] (SCN9) CLPB [HSA:81570] [KO:K03695] (SCN10) SRP68 [HSA:6730] [KO:K03107] (SCN11) SEC61A1 [HSA:29927] [KO:K10956] (SCNX) WAS [HSA:7454] [KO:K05747] |
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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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H00408 | Type 1 diabetes mellitus | The majority of type 1 diabetes mellitus (T1DM) cases are believed to arise from an inflammatory, autoimmune attack against the beta cells in the pancreas, which consequently leads to the failure of insulin-mediated ... | Metabolic disease; Immune system disease; Endocrine disease | hsa04940 Type I diabetes mellitus |
(T1D2) INS [HSA:3630] [KO:K04526] (T1D5) SUMO4 [HSA:387082] [KO:K12160] (T1D10) IL2RA [HSA:3559] [KO:K05068] (T1D12) CTLA4 [HSA:1493] [KO:K06538] (T1D20) HNF1A [HSA:6927] [KO:K08036] (T1D22) CCR5 [HSA:1234] [KO:K04180] HLA-DRB1 [HSA:3123] [KO:K06752] HLA-DQB1 [HSA:3119] [KO:K06752] HLA-DQA1 [HSA:3117] [KO:K06752] PTPN22 [HSA:26191] [KO:K18024] PTPN2 [HSA:5771] [KO:K18026] ERBB3 [HSA:2065] [KO:K05084] IL2 - IL21 [HSA:3558 59067] [KO:K05429 K05434] IFIH1 [HSA:64135] [KO:K12647] CLEC16A [HSA:23274] [KO:K19513] BACH2 [HSA:60468] [KO:K09042] CTSH [HSA:1512] [KO:K01366] SH2B3 [HSA:10019] [KO:K12459] C12orf30 [HSA:80018] [KO:K17973] CD226 [HSA:10666] [KO:K06567] ITPR3 [HSA:3710] [KO:K04960] CYP27B1 [HSA:1594] [KO:K07438] |
H00473 | Mitochondrial complex I deficiency | Mitochondrial complex I deficiency, the most common mitochondrial disorders, is a group of highly heterogeneous conditions characterised by faulty oxidative phosphorylation (OXPHOS). Human complex I is ... | Inherited metabolic disorder, Mitochondrial disease |
(MC1DN1) NDUFS4 [HSA:4724] [KO:K03937] (MC1DN2) NDUFS8 [HSA:4728] [KO:K03941] (MC1DN3) NDUFS7 [HSA:374291] [KO:K03940] (MC1DN4) NDUFV1 [HSA:4723] [KO:K03942] (MC1DN5) NDUFS1 [HSA:4719] [KO:K03934] (MC1DN6) NDUFS2 [HSA:4720] [KO:K03935] (MC1DN7) NDUFV2 [HSA:4729] [KO:K03943] (MC1DN8) NDUFS3 [HSA:4722] [KO:K03936] (MC1DN9) NDUFS6 [HSA:4726] [KO:K03939] (MC1DN10) NDUFAF2 [HSA:91942] [KO:K18160] (MC1DN11) NDUFAF1 [HSA:51103] [KO:K18159] (MC1DN12) NDUFA1 [HSA:4694] [KO:K03945] (MC1DN13) NDUFA2 [HSA:4695] [KO:K03946] (MC1DN14) NDUFA11 [HSA:126328] [KO:K03956] (MC1DN15) NDUFAF4 [HSA:29078] [KO:K18161] (MC1DN16) NDUFAF5 [HSA:79133] [KO:K18162] (MC1DN17) NDUFAF6 [HSA:137682] [KO:K18163] (MC1DN18) NDUFAF3 [HSA:25915] [KO:K09008] (MC1DN19) FOXRED1 [HSA:55572] [KO:K18166] (MC1DN20) ACAD9 [HSA:28976] [KO:K15980] (MC1DN21) NUBPL [HSA:80224] [KO:K03593] (MC1DN22) NDUFA10 [HSA:4705] [KO:K03954] (MC1DN23) NDUFA12 [HSA:55967] [KO:K11352] (MC1DN24) NDUFB9 [HSA:4715] [KO:K03965] (MC1DN25) NDUFB3 [HSA:4709] [KO:K03959] (MC1DN26) NDUFA9 [HSA:4704] [KO:K03953] (MC1DN27) MTFMT [HSA:123263] [KO:K00604] (MC1DN28) NDUFA13 [HSA:51079] [KO:K11353] (MC1DN29) TMEM126B [HSA:55863] [KO:K18165] (MC1DN30) NDUFB11 [HSA:54539] [KO:K11351] (MC1DN31) TIMMDC1 [HSA:51300] [KO:K23505] (MC1DN32) NDUFB8 [HSA:4714] [KO:K03964] (MC1DN33) NDUFA6 [HSA:4700] [KO:K03950] (MC1DN34) NDUFAF8 [HSA:284184] [KO:K24726] (MC1DN35) NDUFB10 [HSA:4716] [KO:K03966] (MC1DN36) NDUFC2 [HSA:4718] [KO:K03968] (MC1DN37) NDUFA8 [HSA:4702] [KO:K03952] (MC1DN39) NDUFB7 [HSA:4713] [KO:K03963] ND1 [HSA:4535] [KO:K03878] ND2 [HSA:4536] [KO:K03879] ND3 [HSA:4537] [KO:K03880] ND4 [HSA:4538] [KO:K03881] ND4L [HSA:4539] [KO:K03882] ND5 [HSA:4540] [KO:K03883] ND6 [HSA:4541] [KO:K03884] |
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H00481 | Cone-rod dystrophy and cone dystrophy | Cone-rod dystrophy (CORD) and cone dystrophy (COD) are a subgroup of inherited retinal dystrophies characterized by progressive loss of photoreceptor function. In contrast to retinitis pigmentosa (RP) ... | Nervous system disease |
(CORD2) CRX [HSA:1406] [KO:K09337] (CORD3) ABCA4 [HSA:24] [KO:K05644] (CORD5) PITPNM3 [HSA:83394] [KO:K24069] (CORD6/RCD2) GUCY2D [HSA:3000] [KO:K12321] (CORD9) ADAM9 [HSA:8754] [KO:K06834] (CORD10) SEMA4A [HSA:64218] [KO:K06521] (CORD11) RAX2 [HSA:84839] [KO:K09333] (CORD12) PROM1 [HSA:8842] [KO:K06532] (CORD13) RPGRIP1 [HSA:57096] [KO:K16512] (CORD14/COD3) GUCA1A [HSA:2978] [KO:K08328] (CORD15) CDHR1 [HSA:92211] [KO:K16501] (CORD16) C8orf37 [HSA:157657] [KO:K25226] (CORD18) RAB28 [HSA:9364] [KO:K07915] (CORD19) TTLL5 [HSA:23093] [KO:K16602] (CORD20) POC1B [HSA:282809] [KO:K16482] (CORD21) DRAM2 [HSA:128338] [KO:K21956] (CORD22) TLCD3B [HSA:83723] [KO:K26600] (CORD24) UNC119 [HSA:9094] [KO:K23539] (CORDX1/COD1) RPGR [HSA:6103] [KO:K19607] (CORDX3) CACNA1F [HSA:778] [KO:K04853] (COD4) PDE6C [HSA:5146] [KO:K13757] (RCD3A) PDE6H [HSA:5149] [KO:K13760] (RCD3B) KCNV2 [HSA:169522] [KO:K04935] (RCD4) CACNA2D4 [HSA:93589] [KO:K04861] |
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H00527 | Retinitis pigmentosa | Retinitis pigmentosa (RP) is a group of inherited progressive retinal diseases characterized by progressive peripheral vision loss and night vision difficulties. RP can be divided into syndromic (40 %) ... | Nervous system disease |
(RP1) RP1 [HSA:6101] [KO:K19538] (RP2) RP2 [HSA:6102] [KO:K18272] (RP3/RP15) RPGR [HSA:6103] [KO:K19607] (RP4) RHO [HSA:6010] [KO:K04250] (RP7) PRPH2 [HSA:5961] [KO:K17343] (RP7) ROM1 [HSA:6094] [KO:K17344] (RP9) RP9 [HSA:6100] [KO:K19604] (RP10) IMPDH1 [HSA:3614] [KO:K00088] (RP11) PRPF31 [HSA:26121] [KO:K12844] (RP12) CRB1 [HSA:23418] [KO:K16681] (RP13) PRPF8 [HSA:10594] [KO:K12856] (RP14) TULP1 [HSA:7287] [KO:K19600] (RP17) CA4 [HSA:762] [KO:K18246] (RP18) PRPF3 [HSA:9129] [KO:K12843] (RP19) ABCA4 [HSA:24] [KO:K05644] (RP20/87) RPE65 [HSA:6121] [KO:K11158] (RP23) OFD1 [HSA:8481] [KO:K16480] (RP25) EYS [HSA:346007] [KO:K19601] (RP26) CERKL [HSA:375298] [KO:K19602] (RP27) NRL [HSA:4901] [KO:K09038] (RP28) FAM161A [HSA:84140] [KO:K16772] (RP30) FSCN2 [HSA:25794] [KO:K17455] (RP31) TOPORS [HSA:10210] [KO:K10631] (RP32) CLCC1 [HSA:23155] [KO:K22188] (RP33) SNRNP200 [HSA:23020] [KO:K12854] (RP35) SEMA4A [HSA:64218] [KO:K06521] (RP36) PRCD [HSA:768206] [KO:K19637] (RP37) NR2E3 [HSA:10002] [KO:K08546] (RP38) MERTK [HSA:10461] [KO:K05117] (RP39) USH2A [HSA:7399] [KO:K19636] (RP40) PDE6B [HSA:5158] [KO:K13756] (RP41) PROM1 [HSA:8842] [KO:K06532] (RP42) KLHL7 [HSA:55975] [KO:K10445] (RP43) PDE6A [HSA:5145] [KO:K08718] (RP44) RGR [HSA:5995] [KO:K04254] (RP45) CNGB1 [HSA:1258] [KO:K04952] (RP46) IDH3B [HSA:3420] [KO:K00030] (RP47/RP96) SAG [HSA:6295] [KO:K19627] (RP48) GUCA1B [HSA:2979] [KO:K08328] (RP49) CNGA1 [HSA:1259] [KO:K04948] (RP50) BEST1 [HSA:7439] [KO:K13878] (RP54) PCARE [HSA:388939] [KO:K24165] (RP55) ARL6 [HSA:84100] [KO:K07951] (RP56) IMPG2 [HSA:50939] [KO:K19017] (RP57) PDE6G [HSA:5148] [KO:K13759] (RP58) ZNF513 [HSA:130557] [KO:K24373] (RP59) DHDDS [HSA:79947] [KO:K11778] (RP60) PRPF6 [HSA:24148] [KO:K12855] (RP61) CLRN1 [HSA:7401] [KO:K23841] (RP62) MAK [HSA:4117] [KO:K08829] (RP64) CFAP418 [HSA:157657] [KO:K25226] (RP66) RBP3 [HSA:5949] [KO:K23911] (RP67) NEK2 [HSA:4751] [KO:K20872] (RP68) SLC7A14 [HSA:57709] [KO:K13871] (RP69) KIZ [HSA:55857] [KO:K16539] (RP70) PRPF4 [HSA:9128] [KO:K12662] (RP71) IFT172 [HSA:26160] [KO:K19676] (RP72) ZNF408 [HSA:79797] [KO:K24372] (RP73) HGSNAT [HSA:138050] [KO:K10532] (RP74) BBS2 [HSA:583] [KO:K16747] (RP75) AGBL5 [HSA:60509] [KO:K23438] (RP76) POMGNT1 [HSA:55624] [KO:K09666] (RP77) REEP6 [HSA:92840] [KO:K17279] (RP78) ARHGEF18 [HSA:23370] [KO:K21066] (RP79) HK1 [HSA:3098] [KO:K00844] (RP80) IFT140 [HSA:9742] [KO:K19672] (RP81) IFT43 [HSA:112752] [KO:K19675] (RP82) ARL2BP [HSA:23568] [KO:K16742] (RP83) ARL3 [HSA:403] [KO:K07944] (RP84) DHX38 [HSA:9785] [KO:K12815] (RP85) AHR [HSA:196] [KO:K09093] (RP86) RP86 [HSA:57670] (RP88) RP1L1 [HSA:94137] [KO:K19538] (RP89) KIF3B [HSA:9371] [KO:K20196] (RP90) IDH3A [HSA:3419] [KO:K00030] (RP91) IMPG1 [HSA:3617] [KO:K19016] (RP92) HKDC1 [HSA:80201] [KO:K00844] (RP93) CC2D2A [HSA:57545] [KO:K19352] (RP94) SPATA7 [HSA:55812] [KO:K19655] (RP95) RAX2 [HSA:84839] [KO:K09333] (RP97) VWA8 [HSA:23078] [KO:K24512] (Bothnia retinal dystrophy) RLBP1 [HSA:6017] [KO:K19625] |
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H00538 | Senior-Loken syndrome | Senior-Loken syndrome is a rare disorder that combines nephronophthisis and retinitis pigmentosa. | Congenital malformation |
(SLSN1) NPHP1 [HSA:4867] [KO:K19657] (SLSN4) NPHP4 [HSA:261734] [KO:K16478] (SLSN5) IQCB1 [HSA:9657] [KO:K16774] (SLSN6) CEP290 [HSA:80184] [KO:K16533] (SLSN7) SDCCAG8 [HSA:10806] [KO:K16488] (SLSN8) WDR19 [HSA:57728] [KO:K19671] (SLSN9) TRAF3IP1 [HSA:26146] [KO:K19680] |
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H00564 | Primary ciliary dyskinesia | Primary ciliary dyskinesia (PCD) is an autosomal recessive disorder with recurrent oto-sinopulmonary infections, bronchiectasis, and infertility owing to impaired motile ciliary function. Alterations in ... | Respiratory system disease |
(CILD1) DNAI1 [HSA:27019] [KO:K10409] (CILD2) DNAAF3 [HSA:352909] [KO:K19752] (CILD3) DNAH5 [HSA:1767] [KO:K10408] (CILD5) HYDIN [HSA:54768] [KO:K17570] (CILD6) NME8 [HSA:51314] [KO:K19868] (CILD7) DNAH11 [HSA:8701] [KO:K10408] (CILD9) DNAI2 [HSA:64446] [KO:K11143] (CILD10) DNAAF2 [HSA:55172] [KO:K19751] (CILD11) RSPH4A [HSA:345895] [KO:K19756] (CILD12) RSPH9 [HSA:221421] [KO:K19757] (CILD13) DNAAF1 [HSA:123872] [KO:K19750] (CILD14) CCDC39 [HSA:339829] [KO:K23729] (CILD15) CCDC40 [HSA:55036] [KO:K23730] (CILD16) DNAL1 [HSA:83544] [KO:K10411] (CILD17) CCDC103 [HSA:388389] [KO:K23731] (CILD18) DNAAF5 [HSA:54919] [KO:K19759] (CILD19) DNAAF11 [HSA:23639] [KO:K19753] (CILD20) ODAD1 [HSA:93233] [KO:K23732] (CILD21) DRC1 [HSA:92749] [KO:K19754] (CILD22) ZMYND10 [HSA:51364] [KO:K24030] (CILD23) ODAD2 [HSA:55130] [KO:K24125] (CILD24) RSPH1 [HSA:89765] [KO:K19755] (CILD25) DNAAF4 [HSA:161582] [KO:K19758] (CILD26) CFAP298 [HSA:56683] [KO:K24229] (CILD27) CCDC65 [HSA:85478] [KO:K23728] (CILD28) SPAG1 [HSA:6674] [KO:K19870] (CILD29) CCNO [HSA:10309] [KO:K10861] (CILD30) ODAD3 [HSA:115948] [KO:K23733] (CILD32) RSPH3 [HSA:83861] [KO:K23965] (CILD33) GAS8 [HSA:2622] [KO:K19942] (CILD34) DNAJB13 [HSA:374407] [KO:K09519] (CILD35) ODAD4 [HSA:83538] [KO:K24254] (CILD36) DNAAF6 [HSA:139212] [KO:K24253] (CILD37) DNAH1 [HSA:25981] [KO:K10408] (CILD38) CFAP300 [HSA:85016] [KO:K24230] (CILD39) LRRC56 [HSA:115399] [KO:K25425] (CILD40) DNAH9 [HSA:1770] [KO:K10408] (CILD41) GAS2L2 [HSA:246176] [KO:K24627] (CILD42) MCIDAS [HSA:345643] [KO:K26119] (CILD43) FOXJ1 [HSA:2302] [KO:K09402] (CILD44) NEK10 [HSA:152110] [KO:K20879] (CILD45) TTC12 [HSA:54970] [KO:K24652] (CILD46) STK36 [HSA:27148] [KO:K06228] (CILD47) TP73 [HSA:7161] [KO:K10148] (CILD48) NME5 [HSA:8382] [KO:K20790] (CILD49) CFAP74 [HSA:85452] [KO:K25607] (CILD50) DNAH7 [HSA:56171] [KO:K10408] (CILD51) BRWD1 [HSA:54014] [KO:K11798] (CILD52) DAW1 [HSA:164781] [KO:K19760] (CILD53) CLXN [HSA:79645] [KO:K27179] |
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H00604 | Deafness, autosomal dominant | Hereditary deafness is divided into syndromic forms (in which hearing loss is associated with a variety of other anomalies) and non-syndromic forms. Non-syndromic forms are responsible for 70% of the cases ... | Nervous system disease |
(DFNA1) DIAPH1 [HSA:1729] [KO:K05740] (DFNA2A) KCNQ4 [HSA:9132] [KO:K04929] (DFNA2B) GJB3 [HSA:2707] [KO:K07622] (DFNA3A) GJB2 [HSA:2706] [KO:K07621] (DFNA3B) GJB6 [HSA:10804] [KO:K07625] (DFNA4A) MYH14 [HSA:79784] [KO:K10352] (DFNA4B) CEACAM16 [HSA:388551] [KO:K06499] (DFNA5) GSDME [HSA:1687] [KO:K22146] (DFNA6/14/38) WFS1 [HSA:7466] [KO:K14020] (DFNA7) LMX1A [HSA:4009] [KO:K09371] (DFNA8/12) TECTA [HSA:7007] [KO:K18273] (DFNA9) COCH [HSA:1690] [KO:K23574] (DFNA10) EYA4 [HSA:2070] [KO:K17622] (DFNA11) MYO7A [HSA:4647] [KO:K10359] (DFNA13) COL11A2 [HSA:1302] [KO:K19721] (DFNA15) POU4F3 [HSA:5459] [KO:K09366] (DFNA17) MYH9 [HSA:4627] [KO:K10352] (DFNA20/26) ACTG1 [HSA:71] [KO:K05692] (DFNA22) MYO6 [HSA:4646] [KO:K10358] (DFNA23) SIX1 [HSA:6495] [KO:K15614] (DFNA25) SLC17A8 [HSA:246213] [KO:K12302] (DFNA27) REST [HSA:5978] [KO:K09222] (DFNA28) GRHL2 [HSA:79977] [KO:K09275] (DFNA34) NLRP3 [HSA:114548] [KO:K12800] (DFNA36) TMC1 [HSA:117531] [KO:K21988] (DFNA37) COL11A1 [HSA:1301] [KO:K19721] (DFNA39) DSPP [HSA:1834] [KO:K23573] (DFNA40) CRYM [HSA:1428] [KO:K18258] (DFNA41) P2RX2 [HSA:22953] [KO:K05216] (DFNA44) CCDC50 [HSA:152137] [KO:K25949] (DFNA50) MIR96 [HSA:407053] [KO:K17114] (DFNA56) TNC [HSA:3371] [KO:K06252] (DFNA64) DIABLO [HSA:56616] [KO:K10522] (DFNA65) TBC1D24 [HSA:57465] [KO:K21841] (DFNA66) CD164 [HSA:8763] [KO:K06546] (DFNA67) OSBPL2 [HSA:9885] [KO:K20174] (DFNA68) HOMER2 [HSA:9455] [KO:K15010] (DFNA69) KITLG [HSA:4254] [KO:K05461] (DFNA70) MCM2 [HSA:4171] [KO:K02540] (DFNA71) DMXL2 [HSA:23312] [KO:K24155] (DFNA72) SLC44A4 [HSA:80736] [KO:K15377] (DFNA73) PTPRQ [HSA:374462] [KO:K16910] (DFNA74) PDE1C [HSA:5137] [KO:K13755] (DFNA75) TRRAP [HSA:8295] [KO:K08874] (DFNA76) PLS1 [HSA:5357] [KO:K17275] (DFNA77) ABCC1 [HSA:4363] [KO:K05665] (DFNA78) SLC12A2 [HSA:6558] [KO:K10951] (DFNA79) SCD5 [HSA:79966] [KO:K00507] (DFNA80) GREB1L [HSA:80000] [KO:K27478] (DFNA81) ELMOD3 [HSA:84173] [KO:K23538] (DFNA82) ATP2B2 [HSA:491] [KO:K05850] (DFNA83) MAP1B [HSA:4131] [KO:K10429] (DFNA84) ATP11A [HSA:23250] [KO:K26934] (DFNA85) USP48 [HSA:84196] [KO:K11858] (DFNA86) THOC1 [HSA:9984] [KO:K12878] (DFNA87) PI4KB [HSA:5298] [KO:K19801] (DFNA88) EPHA10 [HSA:284656] [KO:K08897] (DFNA89) ATOH1 [HSA:474] [KO:K09083] (DFNA90) MYO3A [HSA:53904] [KO:K08834] |
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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] [KO:K19529] |
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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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H00682 |
Woodhouse-Sakati syndrome Hypogonadism, alopecia, diabetes mellitus, mental retardation, and extrapyramidal syndrome |
... Additional manifestations include sensorineural hearing loss, seizures, T-wave abnormalities on ECG, and polyneuropathy. The syndrome is caused by mutation of the C2orf37 gene encoding a nucleolar protein. | Congenital malformation | C2orf37 [HSA:80067] [KO:K23331] | |
H00768 |
Autosomal recessive intellectual developmental disorder Autosomal recessive 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. To date ... | Mental and behavioural disorder |
(MRT1) PRSS12 [HSA:8492] [KO:K09624] (MRT2) CRBN [HSA:51185] [KO:K11793] (MRT3) CC2D1A [HSA:54862] [KO:K18260] (MRT5) NSUN2 [HSA:54888] [KO:K15335] (MRT6) GRIK2 [HSA:2898] [KO:K05202] (MRT7) TUSC3 [HSA:7991] [KO:K19478] (MRT12) ST3GAL3 [HSA:6487] [KO:K00781] (MRT13) TRAPPC9 [HSA:83696] [KO:K20306] (MRT14) TECR [HSA:9524] [KO:K10258] (MRT15) MAN1B1 [HSA:11253] [KO:K23741] (MRT18) MED23 [HSA:9439] [KO:K15166] (MRT27) LINS1 [HSA:55180] [KO:K22533] (MRT34) CRADD [HSA:8738] [KO:K02832] (MRT36) ADAT3 [HSA:113179] [KO:K15442] (MRT37) ANK3 [HSA:288] [KO:K09259] (MRT38) HERC2 [HSA:8924] [KO:K10595] (MRT39) TTI2 [HSA:80185] [KO:K23115] (MRT40) TAF2 [HSA:6873] [KO:K03128] (MRT41) KPTN [HSA:11133] [KO:K23295] (MRT42) PGAP1 [HSA:80055] [KO:K05294] (MRT43) WASHC4 [HSA:23325] [KO:K18465] (MRT44) METTL23 [HSA:124512] [KO:K23151] (MRT45) FBXO31 [HSA:79791] [KO:K10308] (MRT46) NDST1 [HSA:3340] [KO:K02576] (MRT47) FMN2 [HSA:56776] [KO:K02184] (MRT48) SLC6A17 [HSA:388662] [KO:K05048] (MRT49) GPT2 [HSA:84706] [KO:K00814] (MRT50) EDC3 [HSA:80153] [KO:K12615] (MRT51) HNMT [HSA:3176] [KO:K00546] (MRT52) LMAN2L [HSA:81562] [KO:K10083] (MRT53) PIGG [HSA:54872] [KO:K05310] (MRT54) TNIK [HSA:23043] [KO:K08840] (MRT55) PUS3 [HSA:83480] [KO:K01855] (MRT56) ZC3H14 [HSA:79882] [KO:K23038] (MRT57) MBOAT7 [HSA:79143] [KO:K13516] (MRT58) ELP2 [HSA:55250] [KO:K11374] (MRT59) IMPA1 [HSA:3612] [KO:K01092] (MRT60) TAF13 [HSA:6884] [KO:K03127] (MRT61) RUSC2 [HSA:9853] [KO:K23291] (MRT62) PIGC [HSA:5279] [KO:K03859] (MRT63) CAMK2A [HSA:815] [KO:K04515] (MRT64) LINGO1 [HSA:84894] [KO:K23533] (MRT65) KDM5B [HSA:10765] [KO:K11446] (MRT66) C12orf4 [HSA:57102] (MRT67) EIF3F [HSA:8665] [KO:K03249] (MRT68) TRMT1 [HSA:55621] [KO:K00555] (MRT69) ZBTB11 [HSA:27107] [KO:K10498] (MRT70) RSRC1 [HSA:51319] [KO:K24594] (MRT71) ALKBH8 [HSA:91801] [KO:K10770] (MRT72) METTL5 [HSA:29081] [KO:K24418] (MRT73) NAA20 [HSA:51126] [KO:K17972] (MRT74) APC2 [HSA:10297] [KO:K02085] (MRT75) PIDD1 [HSA:55367] [KO:K10130] (MRT76) GRIA1 [HSA:2890] [KO:K05197] (MRT77) CEP104 [HSA:9731] [KO:K16458] (MRT78) WDR11 [HSA:55717] [KO:K24260] (MRT79) TPR [HSA:7175] [KO:K09291] (MRT80) CASP2 [HSA:835] [KO:K02186] (MRT81) ASCC3 [HSA:10973] [KO:K18663] (MRT82) NSUN6 [HSA:221078] [KO:K21971] |
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H00852 | Klippel-Feil syndrome | ... anomalies are often associated. It has been reported that KFS is caused by mutations in the GDF6 or GDF3 genes in an autosomal dominant manner. KFS is also inherited in an autosomal recessive manner. Recently ... | Congenital malformation |
(KFS1) GDF6 [HSA:392255] [KO:K20012] (KFS2) MEOX1 [HSA:4222] [KO:K09322] (KFS3) GDF3 [HSA:9573] [KO:K22672] (KFS4) MYO18B [HSA:84700] [KO:K10362] |
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H01027 | Microphthalmia | Anophthalmia and/or microphthalmia (A/M) can be defined as an absence or reduced size of the globe in the orbit. Anophthalmia refers to complete absence of the globe in the presence of ocular adnexae. ... | Congenital malformation |
(MCOP2/MCOPCB3) VSX2 [HSA:338917] [KO:K09336] (MCOP4/MCOPCB6) GDF6 [HSA:392255] [KO:K20012] (MCOP5) MFRP [HSA:83552] [KO:K24359] (MCOP6) PRSS56 [HSA:646960] [KO:K23440] (MCOP7/MCOPCB6) GDF3 [HSA:9573] [KO:K22672] (MCOP8) ALDH1A3 [HSA:220] [KO:K07249] (MCOPCB5) SHH [HSA:6469] [KO:K11988] (MCOPCB7) ABCB6 [HSA:10058] [KO:K05661] (MCOPCB8) STRA6 [HSA:64220] [KO:K23088] (MCOPCB9) TENM3 [HSA:55714] [KO:K24473] (MCOPCB10) RBP4 [HSA:5950] [KO:K18271] (MCOPCB11) FZD5 [HSA:7855] [KO:K02375] |
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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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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] (SPGF91) CCIN [HSA:881] [KO:K24809] (SPGF92) LRRC23 [HSA:10233] [KO:K27856] (SPGF93) STK33 [HSA:65975] [KO:K08813] (SPGF94) CCDC146 [HSA:57639] [KO:K27712] (SPGF95) CFAP57 [HSA:149465] [KO:K24729] (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] (SPGFX8) CYLC1 [HSA:1538] |
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H01376 | Acrofacial dysostosis | Acrofacial dysostosis (AFD) is a heterogeneous group of disorders combining mandibulofacial dysostosis (micrognathia and ear anomalies) with limb defects. The predominantly preaxial form is called Nager ... | Congenital malformation |
(POADS) DHODH [HSA:1723] [KO:K00254] (AFD1) SF3B4 [HSA:10262] [KO:K12831] (WAD) EVC2 [HSA:132884] [KO:K19608] (WAD) EVC [HSA:2121] [KO:K19605] (AFDCIN) POLR1A [HSA:25885] [KO:K02999] |
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H01470 | Giant cell tumor of bone | Giant-cell tumor of bone (GCTB) is a rare osteolytic tumor of the bone. Although classified as a benign tumor, GCTB is characterized by local aggressiveness and risk of local recurrence. Its name is derived ... | Cancer |
RANKL (overexpression) [HSA:8600] [KO:K05473] H3F3A (mutation) [HSA:3020] [KO:K11253] TP53 (mutation) [HSA:7157] [KO:K04451] HRAS (mutation) [HSA:3265] [KO:K02833] |
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H01481 | Myelodysplastic syndrome | Myelodysplastic syndrome (MDS) is a heterogeneous group of clonal hematologic stem cell disorders characterized by ineffective hematopoiesis resulting in low blood counts, and a risk of progression to ... | Hematologic disease |
TET2 [HSA:54790] [KO:K24309] ASXL1 [HSA:171023] [KO:K11471] GATA2 [HSA:2624] [KO:K17894] SF3B1 [HSA:23451] [KO:K12828] GNB1 [HSA:2782] [KO:K04536] |
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H01489 |
Inherited glycosylphosphatidylinositol deficiencies Glycosylphosphatidylinositol biosynthesis deficiency |
Inherited glycosylphosphatidylinositol biosynthesis deficiency (GPIBD) is a group of glycosylation disorders, which result from mutation in genes involved in the biosynthesis of GPI anchors. Mutations ... | Inherited metabolic disorder |
(GPIBD1) PIGM [HSA:93183] [KO:K05284] (GPIBD2) PIGV [HSA:55650] [KO:K07542] (GPIBD3) PIGN [HSA:23556] [KO:K05285] (GPIBD4) PIGA [HSA:5277] [KO:K03857] (GPIBD5) PIGL [HSA:9487] [KO:K03434] (GPIBD6) PIGO [HSA:84720] [KO:K05288] (GPIBD7) PIGT [HSA:51604] [KO:K05292] (GPIBD8) PGAP2 [HSA:27315] [KO:K23552] (GPIBD9) PGAP1 [HSA:80055] [KO:K05294] (GPIBD10) PGAP3 [HSA:93210] [KO:K23553] (GPIBD11) PIGW [HSA:284098] [KO:K05283] (GPIBD12) PIGY [HSA:84992] [KO:K11001] (GPIBD13) PIGG [HSA:54872] [KO:K05310] (GPIBD14) PIGP [HSA:51227] [KO:K03861] (GPIBD15) GPAA1 [HSA:8733] [KO:K05289] (GPIBD16) PIGC [HSA:5279] [KO:K03859] (GPIBD17) PIGH [HSA:5283] [KO:K03858] (GPIBD18) PIGS [HSA:94005] [KO:K05291] (GPIBD19) PIGQ [HSA:9091] [KO:K03860] (GPIBD20) PIGB [HSA:9488] [KO:K05286] (GPIBD21) PIGU [HSA:128869] [KO:K05293] (GPIBD22) PIGK [HSA:10026] [KO:K05290] (GPIBD25) C18orf32 [HSA:497661] |
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H01656 | Psoriasis | Psoriasis (PSORS) is a chronic, immune-mediated inflammatory skin disease, characterized by increased propagation of the epidermis with dilation of dermal capillaries. The major symptoms of psoriasis are ... | Immune system disease; Skin disease |
(PSORS1) HLA-C [HSA:3107] [KO:K06751] (PSORS2) CARD14 [HSA:79092] [KO:K20913] (PSORS13) TRAF3IP2 [HSA:10758] [KO:K21124] (PSORS14) IL36RN [HSA:26525] [KO:K05483] (PSORS15) AP1S3 [HSA:130340] [KO:K12395] |
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H01922 | Infantile hypotonia with psychomotor retardation and characteristic facies | Infantile hypotonia with psychomotor retardation and characteristic facies (IHPRF) is an autosomal-recessive syndrome characterized by subtle facial dysmorphism, variable degrees of hypotonia, speech impairment ... | Congenital malformation |
(IHPRF1) NALCN [HSA:259232] [KO:K21863] (IHPRF2) UNC80 [HSA:285175] [KO:K24015] (IHPRF3) TBCK [HSA:93627] [KO:K17544] (IHPMR) CCDC174 [HSA:51244] [KO:K25178] |
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H01968 |
Hyper-IgE syndrome Job syndrome Buckley syndrome |
Hyper-IgE syndrome (HIES) is a complex primary immunodeficiency characterized by atopic dermatitis associated with extremely high serum IgE levels and susceptibility to infections with extracellular bacteria ... | Immune system disease |
(HIES1) STAT3 [HSA:6774] [KO:K04692] (HIES2) DOCK8 [HSA:81704] [KO:K21852] (HIES3) ZNF341 [HSA:84905] [KO:K24852] (HIES4A/4B) IL6ST [HSA:3572] [KO:K05060] (HIES5) IL6R [HSA:3570] [KO:K05055] (HIES6) STAT6 [HSA:6778] [KO:K11225] (HIES with mycobacteriosis) TYK2 [HSA:7297] [KO:K11219] (HIES and cognitive impairment) PGM3 [HSA:5238] [KO:K01836] |
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H02109 | Combined malonic and methylmalonic aciduria | ... classic phenotype of methylmalonic acidemia, malonyl-CoA decarboxylase activity is normal. Mutations in ACSF3 have been identified as a cause of CMAMMA. ACSF3 encodes an enzyme that catalyzes the initial reaction ... | Inherited metabolic disorder | ACSF3 [HSA:197322] [KO:K18660] | |
H02214 | Familial focal epilepsy with variable foci | Familial focal epilepsy with variable foci (FFEVF) is an autosomal dominant form of epilepsy characterized by focal seizures arising from different cortical regions, including the temporal, frontal, parietal ... | Nervous system disease |
(FFEVF1) DEPDC5 [HSA:9681] [KO:K20404] (FFEVF2) NPRL2 [HSA:10641] [KO:K20405] (FFEVF3) NPRL3 [HSA:8131] [KO:K20406] (FFEVF4) SCN3A [HSA:6328] [KO:K04836] |
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H02286 |
Congenital deafness with inner ear agenesis, microtia, and microdontia Deafness with labyrinthine aplasia, microtia, and microdontia (LAMM) |
... new, rare, autosomal recessive deafness syndrome. This syndrome has been linked to mutations in the FGF3 gene. Fibroblast growth factor (FGF) signals are required for expression of otic placode genes and ... | Congenital malformation | FGF3 [HSA:2248] [KO:K04358] | |
H02308 | Immunodeficiency-centromeric instability-facial anomalies syndrome | Immunodeficiency, centromeric instability and facial dysmorphism (ICF syndrome) is a genetically heterogeneous autosomal recessive disorder. It is characterized by recurrent and often fatal respiratory ... | Immune system disease |
(ICF1) DNMT3B [HSA:1789] [KO:K17399] (ICF2) ZBTB24 [HSA:9841] [KO:K10503] (ICF3) CDCA7 [HSA:83879] [KO:K23408] (ICF4) HELLS [HSA:3070] [KO:K19001] |
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H02378 | Hypotonia, ataxia, and delayed development syndrome | ... disability, speech delay, ataxia, and facial dysmorphism. It has been reported that de novo mutations in EBF3 cause HADDS. EBF3 belongs to the early B cell factor (EBF) family (also known as Olf, COE, or O/E) ... | Congenital malformation | EBF3 [HSA:253738] [KO:K09103] | |
H02387 | Snijders Blok-Fisher syndrome | ... problems, hypotonia, and autism spectrum disorder. It has been reported that de novo mutations in POU3F3 cause this disease. POU3F3 is a well-known transcription factor involved in the development of the ... | Mental and behavioural disorder | POU3F3 [HSA:5455] [KO:K09365] | |
H02410 | Myelodysplastic/myeloproliferative neoplasms | Myelodysplastic/myeloproliferative neoplasms (MDS/MPN) are hybrid group of chronic myeloid neoplasms combining features of both myelodysplastic (MDS) [DS:H01481] and myeloproliferative neoplasms (MPN) ... | Cancer |
DNMT3A (mutation) [HSA:1788] [KO:K17398] TET2 (mutation) [HSA:54790] [KO:K24309] IDH1 (mutation) [HSA:3417] [KO:K00031] IDH2 (mutation) [HSA:3418] [KO:K00031] ASXL1 (mutation) [HSA:171023] [KO:K11471] EZH2 (mutation) [HSA:2146] [KO:K11430] NRAS (mutation) [HSA:4893] [KO:K07828] KRAS (mutation) [HSA:3845] [KO:K07827] JAK2 (mutation) [HSA:3717] [KO:K04447] CBL (mutation) [HSA:867] [KO:K04707] SETBP1 (mutation) [HSA:26040] [KO:K23217] CSF3R (mutation) [HSA:1441] [KO:K05061] PTPN11 (mutation) [HSA:5781] [KO:K07293] NF1 (mutation) [HSA:4763] [KO:K08052] SF3B1 (mutation) [HSA:23451] [KO:K12828] SRSF2 (mutation) [HSA:6427] [KO:K12891] U2AF1 (mutation) [HSA:7307] [KO:K12836] ZRSR2 (mutation) [HSA:8233] [KO:K24273] RUNX1 (mutation) [HSA:861] [KO:K08367] CEBPA (mutation) [HSA:1050] [KO:K09055] |
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H02411 | Chronic myelomonocytic leukemia | Chronic myelomonocytic leukemia (CMML) is a clonal hematopoietic stem cell disorder associated with peripheral blood monocytosis, with an inherent risk for leukemic transformation. CMML has overlapping ... | Cancer |
TET2 (mutation) [HSA:54790] [KO:K24309] ASXL1 (mutation) [HSA:171023] [KO:K11471] SRSF2 (mutation) [HSA:6427] [KO:K12891] NRAS (mutation) [HSA:4893] [KO:K07828] KRAS (mutation) [HSA:3845] [KO:K07827] CBL (mutation) [HSA:867] [KO:K04707] RUNX1 (mutation) [HSA:861] [KO:K08367] SF3B1 (mutation) [HSA:23451] [KO:K12828] ZRSR2 (mutation) [HSA:8233] [KO:K24273] U2AF1 (mutation) [HSA:7307] [KO:K12836] DNMT3A (mutation) [HSA:1788] [KO:K17398] EZH2 (mutation) [HSA:2146] [KO:K11430] TP53 (mutation) [HSA:7157] [KO:K04451] NPM1 (mutation) [HSA:4869] [KO:K11276] JAK2 (mutation) [HSA:3717] [KO:K04447] FLT3 (mutation) [HSA:2322] [KO:K05092] |
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H02412 | Atypical chronic myeloid leukemia | ... outcomes. aCML is dominated by mutations in SETBP1, granulocyte colony-stimulating factor 3 receptor (CSF3R), NRAS and KRAS. In addition to these mutations, other recurrent mutations in a variety of genes ... | Cancer |
SETBP1 (mutation) [HSA:26040] [KO:K23217] NRAS (mutation) [HSA:4893] [KO:K07828] KRAS (mutation) [HSA:3845] [KO:K07827] JAK2 (mutation) [HSA:3717] [KO:K04447] CSF3R (mutation) [HSA:1441] [KO:K05061] ASXL1 (mutation) [HSA:171023] [KO:K11471] ETNK1 (mutation) [HSA:55500] [KO:K00894] TET2 (mutation) [HSA:54790] [KO:K24309] SRSF2 (mutation) [HSA:6427] [KO:K12891] EZH2 (mutation) [HSA:2146] [KO:K11430] RUNX1 (mutation) [HSA:861] [KO:K08367] CBL (mutation) [HSA:867] [KO:K04707] FLT3 (mutation) [HSA:2322] [KO:K05092] CEBPA (mutation) [HSA:1050] [KO:K09055] IDH2 (mutation) [HSA:3418] [KO:K00031] |
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H02461 | Neurodevelopmental disorder with microcephaly | Neurodevelopmental disorder (NED) with microcephaly is a group of syndromic neurodevelopmental disorders. Most of them have complications in addition to microcephaly. Several underlying genetic causes ... | Congenital malformation |
(NEDMEBA) TRAPPC6B [HSA:122553] [KO:K20304] (NEDMCR) GEMIN4 [HSA:50628] [KO:K13132] (NDMSBA) PLAA [HSA:9373] [KO:K14018] (NEDMIBA) DYNC1I2 [HSA:1781] [KO:K10415] (NEDMABA) SMPD4 [HSA:55627] [KO:K12353] (NEDAHM) SVBP [HSA:374969] [KO:K23357] (NEDMCMS) TMX2 [HSA:51075] [KO:K25112] (NEDMEHM) MTHFS [HSA:10588] [KO:K01934] (NMIHBA) PRUNE1 [HSA:58497] [KO:K01514] (NEDHYMS) ADARB1 [HSA:104] [KO:K13194] (NEDSEBA) EXOC7 [HSA:23265] [KO:K07195] (NEDMISB) EXOC8 [HSA:149371] [KO:K19986] (NEDSOSB) SEC31A [HSA:22872] [KO:K14005] (NEDMSC) VPS50 [HSA:55610] [KO:K23288] (NEDMHS) CPSF3 [HSA:51692] [KO:K14403] (NEDMIMS) CHKA [HSA:1119] [KO:K14156] (NEDMISS) TRAPPC10 [HSA:7109] [KO:K20307] (NEDMVIC) DOHH [HSA:83475] [KO:K06072] (NEDSMBA) PPFIBP1 [HSA:8496] [KO:K27096] (NEDMIM) TTI1 [HSA:9675] [KO:K20403] (NEDGS) PCDHGC4 [HSA:56098] [KO:K16497] |
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H02514 | Lacrimal duct defect | ... lacrimal duct absence. LCDD is one of the causes of epiphora in infants and adolescents. Mutations in IGSF3 gene have been found in the patients with congenital absence of lacrimal puncta and canaliculi. | Congenital malformation | IGSF3 [HSA:3321] [KO:K06522] | |
H02525 | Disorders of innate immunity | Innate immune responses represent the first line of defense against potentially invading organisms. Disorders of innate immunity (e.g. phagocyte and complement disorders) delay the induction of the immune ... | Immune system disease |
(IMD44) STAT2 [HSA:6773] [KO:K11221] (IMD45) IFNAR2 [HSA:3455] [KO:K05131] (IMD57) RIPK1 [HSA:8737] [KO:K02861] (IMD63) IL2RB [HSA:3560] [KO:K05069] (IMD65) IRF9 [HSA:10379] [KO:K04693] (IMD77) MPEG1 [HSA:219972] [KO:K26547] (IMD80) MCM10 [HSA:55388] [KO:K10736] (IMD90) FADD [HSA:8772] [KO:K02373] (IMD91) ZNFX1 [HSA:57169] [KO:K27391] (IMD95) IFIH1 [HSA:64135] [KO:K12647] (IMD103) CARD9 [HSA:64170] [KO:K12794] (IMD106) IFNAR1 [HSA:3454] [KO:K05130] (IMD115) RNF31 [HSA:55072] [KO:K11974] (IMD117) IRF1 [HSA:3659] [KO:K09444] |
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