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Entry | Name | Description | Category | Pathway | Gene |
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H00019 | Pancreatic cancer | Infiltrating ductal adenocarcinoma is the most common malignancy of the pancreas. When most investigators use the term 'pancreatic cancer' they are referring to pancreatic ductal adenocarcinoma (PDA). ... | Cancer | hsa05212 Pancreatic cancer |
KRAS [HSA:3845] [KO:K07827] TP53 [HSA:7157] [KO:K04451] SMAD4 [HSA:4089] [KO:K04501] STK11 [HSA:6794] [KO:K07298] ERBB2 (overexpression) [HSA:2064] [KO:K05083] CDKN2A (mutation, deletion, promoter methylation) [HSA:1029] [KO:K06621] (PNCA1) PALLD [HSA:23022] [KO:K22029] (PNCA2) BRCA2 [HSA:675] [KO:K08775] (PNCA3) PALB2 [HSA:79728] [KO:K10897] (PNCA4) BRCA1 [HSA:672] [KO:K10605] (PNCA5) RABL3 [HSA:285282] [KO:K07933] |
H00027 | Ovarian cancer | ... 10% of ovarian cancers arise in women who have inherited mutations in cancer susceptibility genes (BRCA1 or BRCA2). The vast majority of ovarian cancers are sporadic, resulting from the accumulation of ... | Cancer |
BRCA1 (germline mutation / deletion) [HSA:672] [KO:K10605] BRCA2 (germline mutation / deletion) [HSA:675] [KO:K08775] MSH2 (germline mutation) [HSA:4436] [KO:K08735] MLH1 (germline mutation) [HSA:4292] [KO:K08734] ERBB2 (amplification / overexpression) [HSA:2064] [KO:K05083] K-ras (mutation) [HSA:3845] [KO:K07827] AKT2 (amplification) [HSA:208] [KO:K04456] PIK3CA (amplification) [HSA:5290] [KO:K00922] c-MYC (overexpression) [HSA:4609] [KO:K04377] p53 (mutation / deletion, overexpression) [HSA:7157] [KO:K04451] CTNNB1 [HSA:1499] [KO:K02105] PRKN [HSA:5071] [KO:K04556] OPCML [HSA:4978] [KO:K06773] AKT1 [HSA:207] [KO:K04456] CDH1 [HSA:999] [KO:K05689] |
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H00031 | Breast cancer | Breast cancer is the leading cause of cancer death among women worldwide. The vast majority of breast cancers are carcinomas that originate from cells lining the milk-forming ducts of the mammary gland ... | Cancer | hsa05224 Breast cancer |
BRCA1 (germline mutation, hypermethylation) [HSA:672] [KO:K10605] BRCA2 [HSA:675] [KO:K08775] BARD1 [HSA:580] [KO:K10683] BRIP1 [HSA:83990] [KO:K15362] PALB2 [HSA:79728] [KO:K10897] RAD51 [HSA:5888] [KO:K04482] RAD54L [HSA:8438] [KO:K10875] XRCC3 [HSA:7517] [KO:K10880] ERBB2/HER2 (overexpression) [HSA:2064] [KO:K05083] ESR1/ER1 [HSA:2099] [KO:K08550] PGR [HSA:5241] [KO:K08556] GATA3 [HSA:2625] [KO:K17895] PIK3CA [HSA:5290] [KO:K00922] TP53 [HSA:7157] [KO:K04451] PPM1D [HSA:8493] [KO:K10147] RB1CC1 [HSA:9821] [KO:K17589] HMMR [HSA:3161] [KO:K06267] NQO2 [HSA:4835] [KO:K08071] SLC22A18 [HSA:5002] [KO:K08214] PTEN [HSA:5728] [KO:K01110] EGFR (overexpression) [HSA:1956] [KO:K04361] KIT (overexpression) [HSA:3815] [KO:K05091] NOTCH1 (overexpression) [HSA:4851] [KO:K02599] NOTCH4 (overexpression) [HSA:4855] [KO:K20996] FZD7 (overexpression) [HSA:8324] [KO:K02432] LRP6 (overexpression) [HSA:4040] [KO:K03068] FGFR1 (amplification) [HSA:2260] [KO:K04362] CCND1 (amplification) [HSA:595] [KO:K04503] |
H00063 | Spinocerebellar ataxia (SCA) | The autosomal dominant spinocerebellar ataxias (SCAs) are a group of progressive neurodegenerative diseases characterised by loss of balance and motor coordination due to the primary dysfunction of the ... | Neurodegenerative disease | hsa05017 Spinocerebellar ataxia |
(SCA1) ATXN1 [HSA:6310] [KO:K23616] (SCA2) ATXN2 [HSA:6311] [KO:K23625] (SCA3) ATXN3 [HSA:4287] [KO:K11863] (SCA5) SPTBN2 [HSA:6712] [KO:K23932] (SCA6) CACNA1A [HSA:773] [KO:K04344] (SCA7) ATXN7 [HSA:6314] [KO:K11318] (SCA8) ATXN8OS [HSA:6315] [KO:K23933] (SCA10) ATXN10 [HSA:25814] [KO:K19323] (SCA11) TTBK2 [HSA:146057] [KO:K08815] (SCA12) PPP2R2B [HSA:5521] [KO:K04354] (SCA13) KCNC3 [HSA:3748] [KO:K04889] (SCA14) PRKCG [HSA:5582] [KO:K19663] (SCA15/29) ITPR1 [HSA:3708] [KO:K04958] (SCA17) TBP [HSA:6908] [KO:K03120] (SCA19/22) KCND3 [HSA:3752] [KO:K04893] (SCA21) TMEM240 [HSA:339453] [KO:K24870] (SCA23) PDYN [HSA:5173] [KO:K15840] (SCA26) EEF2 [HSA:1938] [KO:K03234] (SCA27A/27B) FGF14 [HSA:2259] [KO:K23920] (SCA28) AFG3L2 [HSA:10939] [KO:K08956] (SCA31) BEAN1 [HSA:146227] [KO:K19324] (SCA34) ELOVL4 [HSA:6785] [KO:K10249] (SCA35) TGM6 [HSA:343641] [KO:K05624] (SCA36) NOP56 [HSA:10528] [KO:K14564] (SCA37) DAB1 [HSA:1600] [KO:K20054] (SCA38) ELOVL5 [HSA:60481] [KO:K10244] (SCA40) CCDC88C [HSA:440193] [KO:K25811] (SCA41) TRPC3 [HSA:7222] [KO:K04966] (SCA42) CACNA1G [HSA:8913] [KO:K04854] (SCA43) MME [HSA:4311] [KO:K01389] (SCA44) GRM1 [HSA:2911] [KO:K04603] (SCA45) FAT2 [HSA:2196] [KO:K16506] (SCA46) PLD3 [HSA:23646] [KO:K16860] (SCA47) PUM1 [HSA:9698] [KO:K17943] (SCA48) STUB1 [HSA:10273] [KO:K09561] (SCA49) SAMD9L [HSA:219285] [KO:K23949] (SCA50) NPTX1 [HSA:4884] [KO:K25709] |
H00141 | Fucosidosis | Fucosidosis is an autosomal recessive lysosomal storage disease caused by deficient activity of alpha fucosidase. The enzymatic defect results in the accumulation of a variety of fucose-rich storage products ... | Inherited metabolic disorder, Lysosomal disease | FUCA1 [HSA:2517] [KO:K01206] | |
H00159 | Tangier disease | Tangier disease is an autosomal recessive disorder caused by mutation of ABCA1 gene leading to the accumulation of cholesterol in tissue macrophages and prevalent atherosclerosis. | Inherited metabolic disorder | ABCA1 [HSA:19] [KO:K05641] | |
H00168 | Oculocutaneous albinism | Oculocutaneous albinism (OCA) is a genetically heterogeneous congenital disorder of melanin biosynthesis characterized by decreased or absent pigmentation in the hair, skin, and eyes. | Inherited metabolic disorder |
(OCA1) TYR [HSA:7299] [KO:K00505] (OCA2) OCA2 [HSA:4948] [KO:K24200] (OCA2) MC1R [HSA:4157] [KO:K04199] (OCA3) TYRP1 [HSA:7306] [KO:K00506] (OCA4) SLC45A2 [HSA:51151] [KO:K15378] (OCA6) SLC24A5 [HSA:283652] [KO:K13753] (OCA7) LRMDA [HSA:83938] [KO:K24399] (OCA8) DCT [HSA:1638] [KO:K01827] |
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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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H00422 | Glycoproteinoses | Glycoproteinoses are a group of autosomal recessive lysosomal storage diseases caused by deficient activities of enzymes that play important roles in the degradation of glycoproteins such as N-linked or ... | Inherited metabolic disorder, Lysosomal disease |
(Sialidosis, Galactosialidosis) NEU1 [HSA:4758] [KO:K01186] (Galactosialidosis) CTSA [HSA:5476] [KO:K13289] (Galactosialidosis) GLB1 [HSA:2720] [KO:K12309] (alpha-Mannosidosis) MAN2B1 [HSA:4125] [KO:K12311] (beta-Mannosidosis) MANBA [HSA:4126] [KO:K01192] (AGU) AGA [HSA:175] [KO:K01444] (Fucosidosis) FUCA1 [HSA:2517] [KO:K01206] (Schindler/ Kanzaki) NAGA [HSA:4668] [KO:K01204] |
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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] (CORD7) RIMS1 [HSA:22999] [KO:K15291] (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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H00507 | Dyskeratosis congenita | Dyskeratosis congenita (DC) is a severe inherited bone marrow failure syndrome with associated cutaneous and noncutaneous abnormalities. In most cases, the inheritance pattern is X-linked recessive, while ... | Ribosomopathy |
(DKCX) DKC1 [HSA:1736] [KO:K11131] (DKCA1) TERC [HSA:7012] [KO:K22183] (DKCA2/B4) TERT [HSA:7015] [KO:K11126] (DKCA3/A5) TINF2 [HSA:26277] [KO:K11112] (DKCA4/B5) RTEL1 [HSA:51750] [KO:K11136] (DKCA6/B7) ACD [HSA:65057] [KO:K11114] (DKCB1) NOP10 [HSA:55505] [KO:K11130] (DKCB2) NHP2 [HSA:55651] [KO:K11129] (DKCB3) WRAP53 [HSA:55135] [KO:K23314] (DKCB6) PARN [HSA:5073] [KO:K01148] (DKCB8) DCLRE1B [HSA:64858] [KO:K15341] (DKCD) TYMS [HSA:7298] [KO:K00560] |
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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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H00733 | Harlequin ichthyosis | ... ectropion, and impaired contraction of ears and limbs. HI is associated with truncations/deletions in ABCA12, an ATP-binding cassette (ABC) transporters with lipid transporter activity in keratinocytes. | Congenital malformation | ABCA12 [HSA:26154] [KO:K05646] | |
H00734 | Autosomal recessive congenital ichthyosis | Autosomal recessive congenital ichthyoses comprise a heterogeneous group of skin disorders of hyperkeratosis. Two non-syndromic forms are defined including lamellar ichthyosis (LI) and non-bullous congenital ... | Congenital malformation |
(ARCI1/ LI1) TGM1 [HSA:7051] [KO:K05619] (ARCI2/ NBCIE) ALOX12B [HSA:242] [KO:K08021] (ARCI3/ LI5) ALOXE3 [HSA:59344] [KO:K18684] (ARCI4/ LI2) ABCA12 [HSA:26154] [KO:K05646] (ARCI5/ LI3) CYP4F22 [HSA:126410] [KO:K17731] (ARCI6) NIPAL4 [HSA:348938] [KO:K22733] (ARCI8/ LI4) LIPN [HSA:643418] [KO:K24210] (ARCI9) CERS3 [HSA:204219] [KO:K24622] (ARCI10) PNPLA1 [HSA:285848] [KO:K16813] (ARCI11) ST14 [HSA:6768] [KO:K08670] (ARCI12) CASP14 [HSA:23581] [KO:K04401] (ARCI13) SDR9C7 [HSA:121214] [KO:K24425] (ARCI14) SULT2B1 [HSA:6820] [KO:K01015] |
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H00754 | 3-Methylglutaconic aciduria | 3-Methylglutaconic aciduria (MGCA) is a group of metabolic disorders characterized by increased urinary excretion of 3-methylglutaconic acid and 3-methylglutaric acid. Nine distinct forms of MGCA have ... | Inherited metabolic disorder |
(MGCA1) AUH [HSA:549] [KO:K05607] (MGCA2) TAFAZZIN [HSA:6901] [KO:K13511] (MGCA3) OPA3 [HSA:80207] [KO:K23166] (MGCA5) DNAJC19 [HSA:131118] [KO:K09539] (MGCA6) SERAC1 [HSA:84947] [KO:K23504] (MGCA7A/7B) CLPB [HSA:81570] [KO:K03695] (MGCA8) HTRA2 [HSA:27429] [KO:K08669] (MGCA9) TIMM50 [HSA:92609] [KO:K17496] |
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H00837 | Leber congenital amaurosis | Leber congenital amaurosis (LCA) is a heterogeneous group of severe retinal degenerations, which typically becomes evident in the first year of life. Affected infants have little or no retinal photoreceptor ... | Nervous system disease |
(LCA1) GUCY2D [HSA:3000] [KO:K12321] (LCA2) RPE65 [HSA:6121] [KO:K11158] (LCA3) SPATA7 [HSA:55812] [KO:K19655] (LCA4) AIPL1 [HSA:23746] [KO:K17767] (LCA5) LCA5 [HSA:167691] [KO:K24828] (LCA6) RPGRIP1 [HSA:57096] [KO:K16512] (LCA7) CRX [HSA:1406] [KO:K09337] (LCA8) CRB1 [HSA:23418] [KO:K16681] (LCA9) NMNAT1 [HSA:64802] [KO:K06210] (LCA10) CEP290 [HSA:80184] [KO:K16533] (LCA11) IMPDH1 [HSA:3614] [KO:K00088] (LCA12) RD3 [HSA:343035] [KO:K25404] (LCA13) RDH12 [HSA:145226] [KO:K11153] (LCA14) LRAT [HSA:9227] [KO:K00678] (LCA15) TULP1 [HSA:7287] [KO:K19600] (LCA16) KCNJ13 [HSA:3769] [KO:K05006] (LCA17) GDF6 [HSA:392255] [KO:K20012] (LCA18) PRPH2 [HSA:5961] [KO:K17343] (LCA19) USP45 [HSA:85015] [KO:K11844] (LCAEOD) TUBB4B [HSA:10383] [KO:K07375] |
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H00930 | Hypoalphalipoproteinemia | ... One form is associated with abnormal cellular cholesterol efflux caused by heterozygous mutations at the ABCA1 gene. Other forms are primary hypoalphalipoproteinemia caused by mutations of APOA1 gene. | Inherited metabolic disorder |
ABCA1 [HSA:19] [KO:K05641] APOA1 [HSA:335] [KO:K08757] |
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H00962 | RIDDLE syndrome | ... RNF168 that functions to recruit DNA double-strand break (DSB) repair proteins, such as 53BP1 and BRCA1, to sites of DNA damage. As with patients with other DSB repair disorders, the RIDDLE patients also ... | Immune system disease | RNF168 [HSA:165918] [KO:K20779] | |
H01217 | Primary localized cutaneous amyloidosis | Primary localized cutaneous amyloidosis (PLCA) is a chronic itchy skin disorder associated with amyloid deposits in the superficial dermis. It is a purely cutaneous disease with no association with systemic ... | Skin disease |
(PLCA1) OSMR [HSA:9180] [KO:K05057] (PLCA2) IL31RA [HSA:133396] [KO:K22630] (PLCA3) GPNMB [HSA:10457] [KO:K20732] |
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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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H01302 | Hyperchlorhidrosis isolated (HCHLH) | ... (HCHLH) is autosomal recessive nonsyndromic disorder characterized by excessive sweating and increased sweat chloride levels. HCHLH is caused by homozygous mutation in CA12, encoding carbonic anhydrase. | Inherited metabolic disorder | CA12 [HSA:771] [KO:K01672] | |
H01554 | Fallopian tube cancer | Fallopian tube cancer is a rare, aggressive gynecologic malignancy. Recent genetic and immunohistochemical studies strongly suggest that high-grade serous adenocarcinoma (SAC) involving the ovary likely ... | Cancer |
BRCA1 (mutation) [HSA:672] [KO:K10605] BRCA2 (mutation) [HSA:675] [KO:K08775] TP53 (overexpression) [HSA:7157] [KO:K04451] ERBB2 (overexpression) [HSA:2064] [KO:K05083] c-myc (overexpression) [HSA:4609] [KO:K04377] |
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H01665 | Primary peritoneal carcinoma | ... epithelial carcinoma (MEC) and malignant mixed Mullerian tumor (MMMT) are rarely reported. Germline BRCA1 mutations in 26% of PPSPC patients was detected. BRCA1 mutation carriers had a higher overall incidence ... | Cancer | BRCA1 (mutation) [HSA:672] [KO:K10605] | |
H01894 | Multiple mitochondrial dysfunctions syndrome | Multiple mitochondrial dysfunctions syndrome (MMDS) is a severe autosomal recessive disease with onset in early infancy. Pathogenic variations in genes encoding several components of the Fe-S cluster biogenesis ... | Inherited metabolic disorder, Mitochondrial disease |
(MMDS1) NFU1 [HSA:27247] [KO:K22074] (MMDS2) BOLA3 [HSA:388962] [KO:K22075] (MMDS3) IBA57 [HSA:200205] [KO:K22073] (MMDS4) ISCA2 [HSA:122961] [KO:K22072] (MMDS5) ISCA1 [HSA:81689] [KO:K22063] (MMDS6) PMPCB [HSA:9512] [KO:K17732] (MMDS7) GCSH [HSA:2653] [KO:K02437] |
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H01904 |
Microphthalmia with linear skin defects syndrome Linear skin defects with multiple congenital anomalies MIDAS syndrome |
Microphthalmia with linear skin defects (MLS) syndrome is an X-linked male-lethal disorder, also known as MIDAS syndrome (microphthalmia, dermal aplasia, and sclerocornea), or Linear skin defects with ... | Congenital malformation |
(LSDMCA1) HCCS [HSA:3052] [KO:K01764] (LSDMCA2) COX7B [HSA:1349] [KO:K02271] (LSDMCA3) NDUFB11 [HSA:54539] [KO:K11351] |
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H01935 | Familial hypercholanemia | Familial hypercholanemia is characterized by elevated serum bile acid concentrations, itching, and fat malabsorption. Mutations in EPHX1, TJP2, and BAAT may disrupt bile acid transport and circulation | Inherited metabolic disorder |
(FHCA1) TJP2 [HSA:9414] [KO:K06098] (FHCA1) BAAT [HSA:570] [KO:K00659] (FHCA2) SLC10A1 [HSA:6554] [KO:K14341] |
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H02505 | Atherosclerosis | Atherosclerosis is a chronic inflammatory disease marked by a narrowing of the arteries from lipid-rich plaques present within the walls of arterial blood vessels. It represents the root cause of the majority ... | Cardiovascular disease | hsa05417 Lipid and atherosclerosis |
LDLR [HSA:3949] [KO:K12473] APOB [HSA:338] [KO:K14462] PCSK9 [HSA:255738] [KO:K13050] LDLRAP1 [HSA:26119] [KO:K12474] ABCG5 [HSA:64240] [KO:K05683] ABCG8 [HSA:64241] [KO:K05684] LCAT [HSA:3931] [KO:K00650] ABCA1 [HSA:19] [KO:K05641] APOA1 [HSA:335] [KO:K08757] MEF2A [HSA:4205] [KO:K09260] LRP6 [HSA:4040] [KO:K03068] |
H02531 | Familial breast-ovarian cancer | ... breast cancer is considered to be polygenic. The most important breast cancer susceptibility genes are BRCA1 and BRCA2. Mutations in these genes confer a high risk of early-onset breast cancer and also an increased ... | Cancer |
(BROVCA1) BRCA1 [HSA:672] [KO:K10605] (BROVCA2) BRCA2 [HSA:675] [KO:K08775] (BROVCA3) RAD51C [HSA:5889] [KO:K10870] (BROVCA4) RAD51D [HSA:5892] [KO:K10871] (BROVCA5) PALB2 [HSA:79728] [KO:K10897] |
[ KEGG | DISEASE | DRUG | MEDICUS ] |