Search Result |
Top |
Entry | Name | Description | Category | Pathway | Gene |
---|---|---|---|---|---|
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] |
H00078 | Frontotemporal lobar degeneration | ... genes have been implicated in FTLD including microtubule associate protein tau (MAPT), progranulin (PGRN),Valosin-containing protein (VCP) and chromatin modifying protein 2B (CHMP2B). MAPT mutations are ... | Neurodegenerative disease |
(Pick disease/ FTD) MAPT [HSA:4137] [KO:K04380] (Pick disease/ FTD) PSEN1 [HSA:5663] [KO:K04505] (FTLDU) GRN [HSA:2896] [KO:K23879] |
|
H00261 |
Meckel syndrome Meckel-Gruber syndrome |
Meckel syndrome (MKS) is a lethal, autosomal recessive disorder characterized by anomalies of the central nervous system, cystic dysplasia of the kidneys, and malformations of the hands and feet. | Congenital malformation |
(MKS1) MKS1 [HSA:54903] [KO:K19332] (MKS2) TMEM216 [HSA:51259] [KO:K19385] (MKS3) TMEM67 [HSA:91147] [KO:K19348] (MKS4) CEP290 [HSA:80184] [KO:K16533] (MKS5) RPGRIP1L [HSA:23322] [KO:K16550] (MKS6) CC2D2A [HSA:57545] [KO:K19352] (MKS7) NPHP3 [HSA:27031] [KO:K19360] (MKS8) TCTN2 [HSA:79867] [KO:K19361] (MKS9) B9D1 [HSA:27077] [KO:K16744] (MKS10) B9D2 [HSA:80776] [KO:K16745] (MKS11) TMEM231 [HSA:79583] [KO:K19362] (MKS12) KIF14 [HSA:9928] [KO:K17915] (MKS13) TMEM107 [HSA:84314] [KO:K22764] (MKS14) TXNDC15 [HSA:79770] [KO:K25389] |
|
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] |
|
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] |
|
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] |
|
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] |
|
H01001 | COACH syndrome | COACH syndrome is a rare autosomal recessive disorder with cerebellar vermis hypoplasia, oligophrenia, ataxia, coloboma, and hepatic fibrosis. The vermis hypoplasia comprises a part of a spectrum of mid-hindbrain ... | Congenital malformation |
(COACH1) TMEM67 [HSA:91147] [KO:K19348] (COACH2) CC2D2A [HSA:57545] [KO:K19352] (COACH3) RPGRIP1L [HSA:23322] [KO:K16550] |
[ KEGG | DISEASE | DRUG | MEDICUS ] |