Search Result

 Top
1 to 23 of 23
Entry Name Description Category Pathway Gene
H00022 Bladder cancer The urothelium covers the luminal surface of almost the entire urinary tract, extending from the renal pelvis, through the ureter and bladder, to the proximal urethra. The majority of urothelial carcinoma ... Cancer hsa05219 Bladder cancer H-ras (activating mutation) [HSA:3265] [KO:K02833]
FGFR3 (activating mutation) [HSA:2261] [KO:K05094]
p16/INK4A (homozygous deletion or hypermethylation) [HSA:1029] [KO:K06621]
p53 (inactivating mutation or deletion) [HSA:7157] [KO:K04451]
RB1 (deletion or hyperphosphorylation) [HSA:5925] [KO:K06618]
EGFR (overexpression) [HSA:1956] [KO:K04361]
ERBB2 (overexpression) [HSA:2064] [KO:K05083]
RASSF1 (hypermethylation) [HSA:11186] [KO:K09850]
DAPK1 (hypermethylation) [HSA:1612] [KO:K08803]
H00264 Charcot-Marie-Tooth disease
Hereditary motor and sensory neuropathy 		Charcot-Marie-Tooth (CMT) disease, also called hereditary motor and sensory neuropathy (HMSN), is a group of disorders characterized by a chronic motor and sensory polyneuropathy. Based on nerve conduction ... Neurodegenerative disease (CMT1A/1E) PMP22 [HSA:5376] [KO:K19289]
(CMT1B/2I/2J/4E) MPZ [HSA:4359] [KO:K06770]
(CMT1C) LITAF [HSA:9516] [KO:K19363]
(CMT1D/4E) EGR2 [HSA:1959] [KO:K12496]
(CMT1F/2E/DIG) NEFL [HSA:4747] [KO:K04572]
(CMT1G) PMP2 [HSA:5375] [KO:K24977]
(CMT1H) FBLN5 [HSA:10516] [KO:K17340]
(CMT1I) POLR3B [HSA:55703] [KO:K03021]
(CMT1J) ITPR3 [HSA:3710] [KO:K04960]
(CMT2A1) KIF1B [HSA:23095] [KO:K10392]
(CMT2A2/6) MFN2 [HSA:9927] [KO:K06030]
(CMT2B) RAB7A [HSA:7879] [KO:K07897]
(CMT2B1) LMNA [HSA:4000] [KO:K12641]
(CMT2B2) PNKP [HSA:11284] [KO:K08073]
(CMT2C) TRPV4 [HSA:59341] [KO:K04973]
(CMT2CC) NEFH [HSA:4744] [KO:K04574]
(CMT2D) GARS1 [HSA:2617] [KO:K01880]
(CMT2DD) ATP1A1 [HSA:476] [KO:K01539]
(CMT2EE) MPV17 [HSA:4358] [KO:K13348]
(CMT2F) HSPB1 [HSA:3315] [KO:K04455]
(CMT2FF) CADM3 [HSA:57863] [KO:K06780]
(CMT2GG) GBF1 [HSA:8729] [KO:K18443]
(CMT2HH) JAG1 [HSA:182] [KO:K06052]
(CMT2II) SLC12A6 [HSA:9990] [KO:K14427]
(CMT2K/4A/RIA) GDAP1 [HSA:54332] [KO:K22077]
(CMT2K) JPH1 [HSA:56704] [KO:K19530]
(CMT2L) HSPB8 [HSA:26353] [KO:K08879]
(CMT2M/DIB) DNM2 [HSA:1785] [KO:K23484]
(CMT2N) AARS1 [HSA:16] [KO:K01872]
(CMT2O) DYNC1H1 [HSA:1778] [KO:K10413]
(CMT2P) LRSAM1 [HSA:90678] [KO:K10641]
(CMT2Q) DHTKD1 [HSA:55526] [KO:K15791]
(CMT2R) TRIM2 [HSA:23321] [KO:K11997]
(CMT2S) IGHMBP2 [HSA:3508] [KO:K19036]
(CMT2T) MME [HSA:4311] [KO:K01389]
(CMT2U) MARS1 [HSA:4141] [KO:K01874]
(CMT2V) NAGLU [HSA:4669] [KO:K01205]
(CMT2W) HARS1 [HSA:3035] [KO:K01892]
(CMT2X) SPG11 [HSA:80208] [KO:K19026]
(CMT2Y) VCP [HSA:7415] [KO:K13525]
(CMT2Z) MORC2 [HSA:22880] [KO:K24135]
(CMT4B1) MTMR2 [HSA:8898] [KO:K18081]
(CMT4B2) SBF2 [HSA:81846] [KO:K18061]
(CMT4B3) SBF1 [HSA:6305] [KO:K18061]
(CMT4C/MNMN) SH3TC2 [HSA:79628] [KO:K24313]
(CMT4D) NDRG1 [HSA:10397] [KO:K18266]
(CMT4F) PRX [HSA:57716] [KO:K27395]
(CMT4H) FGD4 [HSA:121512] [KO:K05723]
(CMT4J) FIG4 [HSA:9896] [KO:K22913]
(CMT4K) SURF1 [HSA:6834] [KO:K14998]
(CMT6B) SLC25A46 [HSA:91137] [KO:K03454]
(CMT6C) PDXK [HSA:8566] [KO:K00868]
(CMTX1) GJB1 [HSA:2705] [KO:K07620]
(CMTX5) PRPS1 [HSA:5631] [KO:K00948]
(CMTX6) PDK3 [HSA:5165] [KO:K00898]
(CMTDIC) YARS1 [HSA:8565] [KO:K01866]
(CMTDIE) INF2 [HSA:64423] [KO:K23958]
(CMTDIF) GNB4 [HSA:59345] [KO:K04538]
(CMTRIB) KARS1 [HSA:3735] [KO:K04567]
(CMTRIC) PLEKHG5 [HSA:57449] [KO:K19464]
(CMTRID) COX6A1 [HSA:1337] [KO:K02266]
H00438 Nasu-Hakola disease
Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 		... progressive presenile dementia in the fourth decade. The disease is caused by a mutation in the TREM2 or DAP12 gene that regulates osteoclast differentiation. TREM2-DAP12 is also expressed by microglia, thus ... Inherited metabolic disorder (PLOSL1) DAP12 [HSA:7305] [KO:K07992]
(PLOSL2) TREM2 [HSA:54209] [KO:K14378]
H00615 Amelogenesis imperfecta Amelogenesis imperfecta (AI) represents a heterogeneous group of inherited disorders characterized by very thin dental enamel. Defects in mineralization or matrix formation during tooth development lead ... Congenital malformation (AI1A) LAMB3 [HSA:3914] [KO:K06244]
(AI1B/C) ENAM [HSA:10117] [KO:K23444]
(AI1E) AMELX [HSA:265] [KO:K23443]
(AI1F) AMBN [HSA:258] [KO:K23442]
(AI1G) FAM20A [HSA:54757] [KO:K21957]
(AI1H) ITGB6 [HSA:3694] [KO:K06589]
(AI1J) ACP4 [HSA:93650] [KO:K19284]
(AI1K) SP6 [HSA:80320] [KO:K09196]
(AI2A1) KLK4 [HSA:9622] [KO:K08666]
(AI2A2) MMP20 [HSA:9313] [KO:K07999]
(AI2A3) WDR72 [HSA:256764] [KO:K24753]
(AI2A4) ODAPH [HSA:152816] [KO:K24398]
(AI2A5) SLC24A4 [HSA:123041] [KO:K13752]
(AI2A6) GPR68 [HSA:8111] [KO:K08408]
(AI3A) FAM83H [HSA:286077] [KO:K23931]
(AI3B) AMTN [HSA:401138] [KO:K25225]
(AI3C) RELT [HSA:84957] [KO:K05156]
H00768 Autosomal recessive intellectual developmental disorder
Autosomal recessive mental retardation 		... (MR), is a neurodevelopmental disorder characterized by low intelligence quotient (IQ) and deficits in adaptive behaviors. To date, several causative genes have been identified. These genes have a variety ... 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]
H00773 Autosomal dominant intellectual developmental disorder
Autosomal dominant mental retardation 		... (MR), is a neurodevelopmental disorder characterized by low intelligence quotient (IQ) and deficits in adaptive behaviors. Most causative genes identified so far are either located on the X chromosome or are ... Mental and behavioural disorder (MRD1) MBD5 [HSA:55777] [KO:K23219]
(MRD2) DOCK8 [HSA:81704] [KO:K21852]
(MRD3) CDH15 [HSA:1013] [KO:K06809]
(MRD4) KIRREL3 [HSA:84623] [KO:K25874]
(MRD5) SYNGAP1 [HSA:8831] [KO:K17631]
(MRD6) GRIN2B [HSA:2904] [KO:K05210]
(MRD7) DYRK1A [HSA:1859] [KO:K08825]
(MRD8) GRIN1 [HSA:2902] [KO:K05208]
(MRD9) KIF1A [HSA:547] [KO:K10392]
(MRD10) CACNG2 [HSA:10369] [KO:K04867]
(MRD11) EPB41L1 [HSA:2036] [KO:K23961]
(MRD12) ARID1B [HSA:57492] [KO:K11653]
(MRD13) DYNC1H1 [HSA:1778] [KO:K10413]
(MRD14) ARID1A [HSA:8289] [KO:K11653]
(MRD15) SMARCB1 [HSA:6598] [KO:K11648]
(MRD16) SMARCA4 [HSA:6597] [KO:K11647]
(MRD17) PACS1 [HSA:55690] [KO:K23290]
(MRD18) GATAD2B [HSA:57459] [KO:K23194]
(MRD19) CTNNB1 [HSA:1499] [KO:K02105]
(MRD20) MEF2C [HSA:4208] [KO:K04454]
(MRD21) CTCF [HSA:10664] [KO:K23195]
(MRD22) ZBTB18 [HSA:10472] [KO:K23196]
(MRD23) SETD5 [HSA:55209] [KO:K23216]
(MRD24) DEAF1 [HSA:10522] [KO:K23041]
(MRD25) AHDC1 [HSA:27245] [KO:K22592]
(MRD26) AUTS2 [HSA:26053] [KO:K23214]
(MRD27) SOX11 [HSA:6664] [KO:K09268]
(MRD29) SETBP1 [HSA:26040] [KO:K23217]
(MRD30) ZMYND11 [HSA:10771] [KO:K23218]
(MRD31) PURA [HSA:5813] [KO:K21772]
(MRD32) KAT6A [HSA:7994] [KO:K11305]
(MRD33) DPP6 [HSA:1804] [KO:K23013]
(MRD34) COL4A3BP [HSA:10087] [KO:K08283]
(MRD35) PPP2R5D [HSA:5528] [KO:K11584]
(MRD36) PPP2R1A [HSA:5518] [KO:K03456]
(MRD38) EEF1A2 [HSA:1917] [KO:K03231]
(MRD39) MYT1L [HSA:23040] [KO:K23193]
(MRD40) CHAMP1 [HSA:283489] [KO:K22593]
(MRD41) TBL1XR1 [HSA:79718] [KO:K04508]
(MRD42) GNB1 [HSA:2782] [KO:K04536]
(MRD43) HIVEP2 [HSA:3097] [KO:K09239]
(MRD44/63) TRIO [HSA:7204] [KO:K08810]
(MRD45) CIC [HSA:23152] [KO:K20225]
(MRD46) KCNQ5 [HSA:56479] [KO:K04930]
(MRD47) STAG1 [HSA:10274] [KO:K06671]
(MRD48) RAC1 [HSA:5879] [KO:K04392]
(MRD49) TRIP12 [HSA:9320] [KO:K10590]
(MRD50) NAA15 [HSA:80155] [KO:K20792]
(MRD51) KMT5B [HSA:51111] [KO:K11429]
(MRD52) ASH1L [HSA:55870] [KO:K06101]
(MRD53) CAMK2A [HSA:815] [KO:K04515]
(MRD54) CAMK2B [HSA:816] [KO:K04515]
(MRD55) NUS1 [HSA:116150] [KO:K19177]
(MRD56) CLTC [HSA:1213] [KO:K04646]
(MRD57) TLK2 [HSA:11011] [KO:K08864]
(MRD58) SET [HSA:6418] [KO:K11290]
(MRD59) CAMK2G [HSA:818] [KO:K04515]
(MRD60) AP2M1 [HSA:1173] [KO:K11826]
(MRD61) MED13 [HSA:9969] [KO:K15164]
(MRD62) DLG4 [HSA:1742] [KO:K11828]
(MRD64) ZNF292 [HSA:23036] [KO:K26728]
(MRD65) KDM4B [HSA:23030] [KO:K06709]
(MRD66) ATP2B1 [HSA:490] [KO:K05850]
(MRD67) GRIA1 [HSA:2890] [KO:K05197]
(MRD68) KMT2B [HSA:9757] [KO:K14959]
(MRD69) LMAN2L [HSA:81562] [KO:K10083]
(MRD70) SETD2 [HSA:29072] [KO:K11423]
(MRD71) RFX7 [HSA:64864] [KO:K09175]
(MRD72) SRRM2 [HSA:23524] [KO:K13172]
(MRD73) TAF4 [HSA:6874] [KO:K03129]
(MRD74) HNRNPC [HSA:3183] [KO:K12884]
H00787 Congenital stationary night blindness ... disease is a form of CSNB. Patients with the Oguchi disease have a unique yellowish-gold fundus that regains its normal color after prolonged dark adaptation. That is called the Mizuo-Nakamura phenomenon. Nervous system disease (CSNB1A) NYX [HSA:60506] [KO:K08129]
(CSNB1B) GRM6 [HSA:2916] [KO:K04608]
(CSNB1C) TRPM1 [HSA:4308] [KO:K04976]
(CSNB1D) SLC24A1 [HSA:9187] [KO:K13749]
(CSNB1E) GPR179 [HSA:440435] [KO:K22961]
(CSNB1F) LRIT3 [HSA:345193] [KO:K24491]
(CSNB1H) GNB3 [HSA:2784] [KO:K07825]
(CSNB1I) GUCY2D [HSA:3000] [KO:K12321]
(CSNB2A) CACNA1F [HSA:778] [KO:K04853]
(CSNB2B) CABP4 [HSA:57010] [KO:K23531]
(CSNBAD1) RHO [HSA:6010] [KO:K04250]
(CSNBAD2) PDE6B [HSA:5158] [KO:K13756]
(CSNBAD3 CSNB1G) GNAT1 [HSA:2779] [KO:K04631]
(CSNBO1) SAG [HSA:6295] [KO:K19627]
(CSNBO2) GRK1 [HSA:6011] [KO:K00909]
H00973 Bradyopsia ... condition in which patients show a prolonged response suppression on electroretinogram and have delayed adapting to sudden changes in luminance levels, photophobia, and difficulties seeing moving objects. Visual ... Nervous system disease (PERRS1) RGS9 [HSA:8787] [KO:K13765]
(PERRS2) RGS9BP [HSA:388531] [KO:K25405]
H01128 Reticular dysgenesis ... in peripheral blood, hypoplasia of the thymus and secondary lymphoid organs, and lack of innate and adaptive humoral and cellular immune functions, leading to fatal septicemia within days after birth. The ... Immune system disease AK2 [HSA:204] [KO:K00939]
H01218 P14 deficiency ... neutropenia, partial albinism, short stature and B-cell and cytotoxic T-cell deficiency. This protein is an adaptor molecule orchestrating the subcellular anatomy of MAP kinase signaling, and is crucial for the ... Primary immunodeficiency MAPBPIP [HSA:28956] [KO:K20398]
H01443 Viridans group streptococcal infection ... macrolide-lincosamide-streptogramin B (MLS) drugs is an evolving problem, several drugs remain uniformly active against the VGS. Thus far, VGS resistance to vancomycin, linezolid, and daptomycin remains extremely rare. Bacterial infectious disease
H01604 Polymyositis and dermatomyositis ... highlighted the importance of the innate immune system and non-immune mechanisms and described novel adaptive immune-based pathways in the pathogenesis of PM and DM. Treatment of inflammatory myopathies ... Musculoskeletal disease
H01725 Primary immunodeficiency disease ... different disorders which have been described till date. PIDs are broadly classified as disorders of adaptive immunity (i.e., T-cell, B-cell or combined immunodeficiencies) or of innate immunity (e.g., phagocyte ... Immune system disease hsa05340 Primary immunodeficiency (IMD101) POLR3F [HSA:10621] [KO:K03025]
(IMD102) SASH3 [HSA:54440] [KO:K23706]
(IMD109) TNFRSF9 [HSA:3604] [KO:K05146]
(IMD111/HATIS) DPP9 [HSA:91039] [KO:K08656]
(IMD113) ARPC5 [HSA:10092] [KO:K05754]
(IMD114) SLC19A1 [HSA:6573] [KO:K14609]
(IMD118) MCTS1 [HSA:28985] [KO:K07575]
H01891 Autosomal recessive spinocerebellar ataxias Autosomal recessive cerebellar ataxias (SCAR) are a heterogeneous group of inherited neurodegenerative disorders that affect the cerebellum, the spinocerebellar and sensory tracts of the spinal cord and ... Neurodegenerative disease (SCAR1/SCAN2) SETX [HSA:23064] [KO:K10706]
(SCAR2) PMPCA [HSA:23203] [KO:K01412]
(SCAR4) VPS13D [HSA:55187] [KO:K19527]
(SCAR7) TPP1 [HSA:1200] [KO:K01279]
(SCAR8) SYNE1 [HSA:23345] [KO:K19326]
(SCAR9) COQ8A [HSA:56997] [KO:K08869]
(SCAR10) ANO10 [HSA:55129] [KO:K19327]
(SCAR11) SYT14 [HSA:255928] [KO:K19328]
(SCAR12) WWOX [HSA:51741] [KO:K19329]
(SCAR13) GRM1 [HSA:2911] [KO:K04603]
(SCAR14) SPTBN2 [HSA:6712] [KO:K23932]
(SCAR15) RUBCN [HSA:9711] [KO:K19330]
(SCAR16) STUB1 [HSA:10273] [KO:K09561]
(SCAR17) CWF19L1 [HSA:55280] [KO:K24939]
(SCAR18) GRID2 [HSA:2895] [KO:K05207]
(SCAR19) SLC9A1 [HSA:6548] [KO:K05742]
(SCAR20) SNX14 [HSA:57231] [KO:K17926]
(SCAR21) SCYL1 [HSA:57410] [KO:K08876]
(SCAR22) VWA3B [HSA:200403] [KO:K24509]
(SCAR23) TDP2 [HSA:51567] [KO:K19619]
(SCAR24) UBA5 [HSA:79876] [KO:K12164]
(SCAR25) ATG5 [HSA:9474] [KO:K08339]
(SCAR26) XRCC1 [HSA:7515] [KO:K10803]
(SCAR27) GDAP2 [HSA:54834] [KO:K24997]
(SCAR28) THG1L [HSA:54974] [KO:K10761]
(SCAR29) VPS41 [HSA:27072] [KO:K20184]
(SCAR30) PITRM1 [HSA:10531] [KO:K06972]
(SCAR31) ATG7 [HSA:10533] [KO:K08337]
(SCAR32) PRDX3 [HSA:10935] [KO:K20011]
(SCAR33) RNU12 [HSA:267010]
(SCAN1) TDP1 [HSA:55775] [KO:K10862]
(SCAN3) COA7 [HSA:65260] [KO:K18180]
H01911 Syndromic autosomal recessive mental retardation ... (MR) is a neurodevelopmental disorder characterized by low intelligence quotient (IQ) and deficits in adaptive behaviors. To date, several genes have been identified for autosomal recessive mental retardation ... Mental and behavioural disorder (MRT34) CRADD [HSA:8738] [KO:K02832]
(MRAMS) SOBP [HSA:55084] [KO:K27304]
H01918 Familial autosomal recessive hypercholesterolemia ... xanthomas tend to be large and bulky. In 2001, ARH was found to be caused by mutations in the LDL receptor adaptor protein 1 (LDLRAP1). In ARH, the internalization of the ligand-receptor complex cannot occur and ... Inherited metabolic disorder LDLRAP1 [HSA:26119] [KO:K12474]
H01969 X-linked lymphoproliferative syndrome
Duncan disease 		... response to infection with Epstein-Barr virus (EBV). Mutations in the SH2D1A/SAP gene, a signalling adaptor molecule, underlie 60% of cases of familial XLP. Recently, mutations in the XIAP gene have been ... Primary immunodeficiency (XLP1) SH2D1A [HSA:4068] [KO:K07990]
(XLP2) XIAP [HSA:331] [KO:K04725]
H02289 Retinal dystrophy with or without extraocular anomalies ... with retinitis pigmentosa (RP), goiter, primary ovarian insufficiency, and mild intellectual disability. RCBTB1 was shown to be involved in ubiquitination, more specifically as a CUL3 substrate adaptor. Nervous system disease RCBTB1 [HSA:55213] [KO:K11494]
H02526 Disorders of adaptive immunity T cells and B cells are the primary cells of the adaptive immune system. B cells mediate antibody production and play a major role in antibody-mediated immunity. T cells govern cell-mediated immune responses ... Immune system disease (IMD13) UNC119 [HSA:9094] [KO:K23539]
(IMD41) IL2RA [HSA:3559] [KO:K05068]
(IMD46) TFRC [HSA:7037] [KO:K06503]
(IMD52) LAT [HSA:27040] [KO:K07362]
(IMD53) RELB [HSA:5971] [KO:K09253]
(IMD56) IL21R [HSA:50615] [KO:K05075]
(IMD60) BACH2 [HSA:60468] [KO:K09042]
(IMD62) ARHGEF1 [HSA:9138] [KO:K12330]
(IMD64) RASGRP1 [HSA:10125] [KO:K04350]
(IMD66) MRTFA [HSA:57591] [KO:K22525]
(IMD70) IVNS1ABP [HSA:10625] [KO:K15046]
(IMD72) NCKAP1L [HSA:3071] [KO:K05750]
(IMD76) FCHO1 [HSA:23149] [KO:K20042]
(IMD78) TPP2 [HSA:7174] [KO:K01280]
(IMD79) CD4 [HSA:920] [KO:K06454]
(IMD81) LCP2 [HSA:3937] [KO:K07361]
(IMD82) SYK [HSA:6850] [KO:K05855]
(IMD84) IKZF3 [HSA:22806] [KO:K09220]
(IMD86) SPPL2A [HSA:84888] [KO:K09596]
(IMD87) DEF6 [HSA:50619] [KO:K20072]
(IMD88) TBX21 [HSA:30009] [KO:K10166]
(IMD89) CARD10 [HSA:29775] [KO:K20912]
(IMD92) REL [HSA:5966] [KO:K09254]
(IMD93) FNIP1 [HSA:96459] [KO:K20400]
(IMD99) CTNNBL1 [HSA:56259] [KO:K12864]
H02586 Distal myopathy with rimmed vacuoles ... autosomal dominant distal myopathy. It has been reported that mutations in SQSTM1 cause this disease. SQSTM1 is an autophagic adaptor that shuttles aggregated and ubiquitinated proteins to the autophagosome. Nervous system disease; Musculoskeletal disease SQSTM1 [HSA:8878] [KO:K14381]
H02672 Systemic autoinflammatory disease with vasculitis ... gain-of-function mutations in LYN associated with this disease. LYN is a member of the Src family of protein tyrosine kinases, and plays an important role in the regulation of innate and adaptive immune responses. Immune system disease LYN [HSA:4067] [KO:K05854]
H02692 Usmani-Riazuddin syndrome ... It has been reported that mutations in AP1G1 cause this disease. AP1G1 encodes gamma-1 subunit of adaptor-related protein complex 1. Adaptor protein (AP) complexes mediate selective intracellular vesicular ... Nervous system disease AP1G1 [HSA:164] [KO:K12391]
H02748 Hepatorenocardiac degenerative fibrosis ... progressive fibrotic liver disease and variable kidney and heart disease. It has been reported that mutations in TULP3 cause this disease. TULP3 encodes a critical adaptor protein for ciliary trafficking. Congenital malformation TULP3 [HSA:7289] [KO:K19600]
1 to 23 of 23
[ KEGG | DISEASE | DRUG | MEDICUS ]