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Entry | Name | Description | Category | Pathway | Gene |
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H00029 | Vulvar cancer | ... lichen sclerosus or squamous hyperplasia, and is generally not linked to HPV infection. Relatively little is known about molecular changes in the genesis of vulvar cancer. Some studies suggest that early ... | Cancer |
PTEN (mutation) [HSA:5728] [KO:K01110] p53 (mutation) [HSA:7157] [KO:K04451] |
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H00136 | Niemann-Pick disease type C | ... neurodegeneration starting from early life. While NPC1 is a lysosomal transmembrane protein involved in shuttling of substrates to the Golgi and possibly elsewhere in cells, NPC2 is a soluble lysosomal protein ... | Inherited metabolic disorder, Lysosomal disease |
(NPC1/ D) NPC1 [HSA:4864] [KO:K12385] (NPC2) NPC2 [HSA:10577] [KO:K13443] |
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H00137 | Niemann-Pick disease type A/B | ... neurodegenerative course that leads to early death. Type B NPD is the later-onset form in which patients exhibit little or no neurological symptoms, but may have severe and progressive visceral organ abnormalities, including ... | Inherited metabolic disorder, Lysosomal disease | SMPD1 [HSA:6609] [KO:K12350] | |
H00310 | Q fever | ... intracellular bacterium. This infection has many different reservoirs that mainly consist of dairy cattle. Infection in humans is often asymptomatic, but may appear either in an acute form accompanied mainly ... | Bacterial infectious disease | ||
H00325 | Brucellosis | ... persons working with domestic animals. Although many countries have eradicated Brucella abortus from cattle, Brucella melitensis remains a major cause of infection in cattle and human in Latin America, the ... | Bacterial infectious disease | ||
H00403 | Disorders of nucleotide excision repair | ... neurological abnormalities or skin tumors. TTD is a premature aging syndrome, with the hallmark feature of brittle hair and nails, ichthyosis, and progressive mental and physical retardation. Within photo-sensitive ... | Congenital malformation |
(XPA) XPA [HSA:7507] [KO:K10847] (XPB/CS, TTD) ERCC3 [HSA:2071] [KO:K10843] (XPC) XPC [HSA:7508] [KO:K10838] (XPD, TTD) ERCC2 [HSA:2068] [KO:K10844] (XPE) DDB2 [HSA:1643] [KO:K10140] (XPE-2) DDB1 [HSA:1642] [KO:K10610] (XPF/CS) ERCC4 [HSA:2072] [KO:K10848] (XPG/CS, COFS3) ERCC5 [HSA:2073] [KO:K10846] (XPV) POLH [HSA:5429] [KO:K03509] (CSA) ERCC8 [HSA:1161] [KO:K10570] (CSB, DSC, UVS, COFS1) ERCC6 [HSA:2074] [KO:K10841] (TTD) GTF2H5 [HSA:404672] [KO:K10845] (COFS4) ERCC1 [HSA:2067] [KO:K10849] |
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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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H00605 | Deafness, autosomal recessive | 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 |
(DFNB1A) GJB2 [HSA:2706] [KO:K07621] (DFNB1A) GJB3 [HSA:2707] [KO:K07622] (DFNB1B) GJB6 [HSA:10804] [KO:K07625] (DFNB2) MYO7A [HSA:4647] [KO:K10359] (DFNB3) MYO15A [HSA:51168] [KO:K10361] (DFNB4) SLC26A4 [HSA:5172] [KO:K14702] (DFNB4) FOXI1 [HSA:2299] [KO:K09401] (DFNB4) KCNJ10 [HSA:3766] [KO:K05003] (DFNB6) TMIE [HSA:259236] [KO:K23907] (DFNB7/11) TMC1 [HSA:117531] [KO:K21988] (DFNB8/10) TMPRSS3 [HSA:64699] [KO:K09634] (DFNB9) OTOF [HSA:9381] [KO:K19949] (DFNB12) CDH23 [HSA:64072] [KO:K06813] (DFNB12) ATP2B2 [HSA:491] [KO:K05850] (DFNB15) GIPC3 [HSA:126326] [KO:K20056] (DFNB16) STRC [HSA:161497] [KO:K24636] (DFNB18A) USH1C [HSA:10083] [KO:K21877] (DFNB18B) OTOG [HSA:340990] [KO:K25030] (DFNB21) TECTA [HSA:7007] [KO:K18273] (DFNB22) OTOA [HSA:146183] [KO:K25029] (DFNB23) PCDH15 [HSA:65217] [KO:K16500] (DFNB24) RDX [HSA:5962] [KO:K05762] (DFNB25) GRXCR1 [HSA:389207] [KO:K17479] (DFNB26) GAB1 [HSA:2549] [KO:K09593] (DFNB26) METTL13 [HSA:51603] [KO:K25166] (DFNB28) TRIOBP [HSA:11078] [KO:K23751] (DFNB29) CLDN14 [HSA:23562] [KO:K06087] (DFNB30) MYO3A [HSA:53904] [KO:K08834] (DFNB31) WHRN [HSA:25861] [KO:K21879] (DFNB32) CDC14A [HSA:8556] [KO:K06639] (DFNB35) ESRRB [HSA:2103] [KO:K08553] (DFNB36) ESPN [HSA:83715] [KO:K24047] (DFNB37) MYO6 [HSA:4646] [KO:K10358] (DFNB39) HGF [HSA:3082] [KO:K05460] (DFNB42) ILDR1 [HSA:286676] [KO:K25781] (DFNB44) ADCY1 [HSA:107] [KO:K08041] (DFNB48) CIB2 [HSA:10518] [KO:K23837] (DFNB49) MARVELD2 [HSA:153562] [KO:K17291] (DFNB53) COL11A2 [HSA:1302] [KO:K19721] (DFNB57) PDZD7 [HSA:79955] [KO:K21882] (DFNB59) PJVK [HSA:494513] [KO:K22147] (DFNB61) SLC26A5 [HSA:375611] [KO:K14703] (DFNB63) LRTOMT [HSA:220074] [KO:K00545] (DFNB66) DCDC2 [HSA:51473] [KO:K23405] (DFNB67) LHFPL5 [HSA:222662] [KO:K23893] (DFNB68) S1PR2 [HSA:9294] [KO:K04292] (DFNB70) PNPT1 [HSA:87178] [KO:K00962] (DFNB74) MSRB3 [HSA:253827] [KO:K07305] (DFNB76) SYNE4 [HSA:163183] [KO:K23401] (DFNB77) LOXHD1 [HSA:125336] [KO:K24822] (DFNB79) TPRN [HSA:286262] [KO:K24164] (DFNB82) GPSM2 [HSA:29899] [KO:K15837] (DFNB84A) PTPRQ [HSA:374462] [KO:K16910] (DFNB84B) OTOGL [HSA:283310] [KO:K25030] (DFNB86) TBC1D24 [HSA:57465] [KO:K21841] (DFNB88) ELMOD3 [HSA:84173] [KO:K23538] (DFNB89) KARS1 [HSA:3735] [KO:K04567] (DFNB91) SERPINB6 [HSA:5269] [KO:K13963] (DFNB93) CABP2 [HSA:51475] [KO:K23531] (DFNB94) NARS2 [HSA:79731] [KO:K01893] (DFNB97) MET [HSA:4233] [KO:K05099] (DFNB98) TSPEAR [HSA:54084] [KO:K24437] (DFNB99) TMEM132E [HSA:124842] [KO:K17599] (DFNB100) PPIP5K2 [HSA:23262] [KO:K13024] (DFNB101) GRXCR2 [HSA:643226] [KO:K24294] (DFNB102) EPS8 [HSA:2059] [KO:K17277] (DFNB103) CLIC5 [HSA:53405] [KO:K05025] (DFNB104) RIPOR2 [HSA:9750] [KO:K24818] (DFNB106) EPS8L2 [HSA:64787] [KO:K17277] (DFNB107) WBP2 [HSA:23558] [KO:K22524] (DFNB108) ROR1 [HSA:4919] [KO:K05122] (DFNB109) ESRP1 [HSA:54845] [KO:K14947] (DFNB110) COCH [HSA:1690] [KO:K23574] (DFNB111) MPZL2 [HSA:10205] [KO:K27316] (DFNB112) BDP1 [HSA:55814] [KO:K15198] (DFNB113) CEACAM16 [HSA:388551] [KO:K06499] (DFNB114) GRAP [HSA:10750] [KO:K23694] (DFNB115) SPNS2 [HSA:124976] [KO:K23677] (DFNB116) CLDN9 [HSA:9080] [KO:K06087] (DFNB117) CLRN2 [HSA:645104] [KO:K23841] (DFNB119) SPATA5L1 [HSA:79029] [KO:K26051] (DFNB120) MINAR2 [HSA:100127206] [KO:K24830] (DFNB121) GPR156 [HSA:165829] [KO:K04617] (DFNB122) TMTC4 [HSA:84899] [KO:K23424] (DFNB123) STX4 [HSA:6810] [KO:K13502] (DFNB124) PKHD1L1 [HSA:93035] |
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H00704 | Oculopharyngeal muscular dystrophy | ... protein nuclear 1 (PABPN1) gene. To date OPMD is considered as a primary myopathic disorder and there is little morphologic evidence for neurogenic etiology, though the peripheral nervous system (PNS) seems to ... | Nervous system disease; Musculoskeletal disease |
(OPMD1) PABPN1 [HSA:8106] [KO:K14396] (OPMD2) HNRNPA2B1 [HSA:3181] [KO:K13158] |
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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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H00802 | Ehlers-Danlos syndrome | ... (EDSHMB), arthrochalasia type (EDSARTH), dermatospraxis type (EDSDERMS), kyphoscoliosis type (EDSKSCL), brittle cornea syndrome (BCS), spondylodysplastic type (EDSSPD), musculocontractural type (EDSMC), myopathic ... | Congenital malformation |
(EDSCL1) COL5A1 [HSA:1289] [KO:K19721] (EDSCL2) COL5A2 [HSA:1290] [KO:K19721] (EDSCLL) TNXB [HSA:7148] [KO:K06252] (EDSCLL2) AEBP1 [HSA:165] [KO:K21392] |
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H00837 | Leber congenital amaurosis | ... retinal degenerations, which typically becomes evident in the first year of life. Affected infants have little or no retinal photoreceptor function as tested by electroretinography. LCA is generally inherited ... | 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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H00866 | Trichothiodystrophy | Trichothiodystrophy (TTD) is a premature aging syndrome, with the hallmark feature of brittle hair and nails, ichthyosis, and progressive mental and physical retardation. Within photo-sensitive TTD, three ... | Skin disease |
(TTD1) ERCC2 [HSA:2068] [KO:K10844] (TTD2) ERCC3 [HSA:2071] [KO:K10843] (TTD3) GTF2H5 [HSA:404672] [KO:K10845] (TTD4) MPLKIP [HSA:136647] [KO:K24575] (TTD5) RNF113A [HSA:7737] [KO:K13127] (TTD6) GTF2E2 [HSA:2961] [KO:K03137] (TTD7) TARS1 [HSA:6897] [KO:K01868] (TTD8) AARS1 [HSA:16] [KO:K01872] (TTD9) MARS1 [HSA:4141] [KO:K01874] |
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H00965 | RAPADILINO syndrome | ... hypo-/aplasia, patellae hypo-/aplasia and cleft or highly arched palate, diarrhoea and dislocated joints, little size and limb malformation, nose slender and normal intelligence. It is an autosomal recessive disorder ... | Congenital malformation | RECQL4 [HSA:9401] [KO:K10730] | |
H01028 |
Argininosuccinic aciduria Argininosuccinate lyase deficiency |
... ARGINSA is characterized by mental and physical retardation, liver enlargement, skin lesions, dry and brittle hair showing trichorrhexis nodosa microscopically and fluorescing red, convulsions, and episodic ... | Inherited metabolic disorder | ASL [HSA:435] [KO:K01755] | |
H01060 | Babesiosis | ... cells caused by the protozoan parasite Babesia species. It is a well-recognized veterinary disease in cattle, horses and dogs but recently has gained attention as an emerging zoonotic disease problem. Babesia ... | Parasitic infectious disease | ||
H01177 | Infantile bilateral striatal necrosis | ... symmetrical degeneration of the caudate nucleus, putamen, and occasionally the globus pallidus, with little involvement of the rest of the brain. The clinical features of IBSN include developmental regression ... | Nervous system disease |
NUP62 [HSA:23636] [KO:K14306] MT-ATP6 [HSA:4508] [KO:K02126] |
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H01347 |
MELAS syndrome Mitochondrial myopathy, Encephalopathy, Lactic Acidosis, Stroke-like episodes |
... deficiency of respiratory chain complex I. About 80% of MELAS patients have an A3243G mutation in the MTTL1 gene. Other mutations in MTTL1, other mitochondrial tRNA genes, and the mitochondrial MTND subunit ... | Inherited metabolic disorder, Mitochondrial disease |
(MTTL1) TRNL1 [HSA:4567] [KO:K14228] (MTTQ) TRNQ [HSA:4572] [KO:K14223] (MTTH) TRNH [HSA:4564] [KO:K14226] (MTTK) TRNK [HSA:4566] [KO:K14229] (MTTC) TRNC [HSA:4511] [KO:K14222] (MTTS1) TRNS1 [HSA:4574] [KO:K14233] (MTTS2) TRNS2 [HSA:4575] [KO:K14233] (MTTF) TRNF [HSA:4558] [KO:K14231] (MTTV) TRNV [HSA:4577] [KO:K14237] (MTTW) TRNW [HSA:4578] [KO:K14235] (MTND1) ND1 [HSA:4535] [KO:K03878] (MTND5) ND5 [HSA:4540] [KO:K03883] (MTND6) ND6 [HSA:4541] [KO:K03884] (MTCYB) CYTB [HSA:4519] [KO:K00412] |
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H01415 |
Donovanosis Granuloma inguinale |
... Calymmatobacterium granulomatis. This sexually transmitted disease is characterized by granulomatous ulceration of the genitalia and neighboring sites, with little or no tendency to spontaneous healing. | Bacterial infectious disease | ||
H01902 | Brittle cornea syndrome | Brittle cornea syndrome (BCS) is a rare autosomal recessive generalized connective tissue disorder. It is characterized by extreme thinning and fragility of the cornea that may rupture in the absence of ... | Congenital malformation |
(BCS1) ZNF469 [HSA:84627] (BCS2) PRDM5 [HSA:11107] [KO:K22534] |
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H02180 | McKusick-Kaufman syndrome | ... and is characterised by vaginal atresia with hydrometrocolpos, postaxial polydactyly, and congenital heart defect. It is caused by mutations in the MKKS gene, that encodes centrosome-shuttling protein. | Congenital malformation | MKKS [HSA:8195] [KO:K09492] | |
H02509 | Vesicular stomatitis fever | ... Rhabdoviridae and the order Mononegavirales of -ssRNA viruses. Clinical disease has been observed in cattle, horses, pigs and camel. The VSV is zoonotic and causes flu-like symptom. Encephalitis is rare but ... | Viral infectious disease | ||
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] |
[ KEGG | DISEASE | DRUG | MEDICUS ] |