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| Entry | Name | Description | Category | Pathway | Gene |
|---|---|---|---|---|---|
| H00040 | Squamous cell carcinoma | ... cell carcinoma (BCC) and squamous cell carcinoma (SCC) are the most frequent tumors and their number is still increasing world- wide. Approximately 200000 cases of SCC develop per year, causing about 2000 ... | Cancer |
p53 (mutation) [HSA:7157] [KO:K04451] p16/INK4A (mutation) [HSA:1029] [KO:K06621] H-ras (mutation) [HSA:3265] [KO:K02833] K-ras (mutation) [HSA:3845] [KO:K07827] |
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| H00075 |
Refsum disease Heredopathia atactica polyneuritiformis |
... peroxisomal matrix protein receptor. Though PEX7 has been identified another responsible gene, there still remain a small number of patients in whom no mutations in either of these two genes can be found | Inherited metabolic disorder, Peroxisomal disease |
PHYH [HSA:5264] [KO:K00477] PEX7 [HSA:5191] [KO:K13341] |
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| H00089 |
IFN-gamma/IL-12 axis Mendelian susceptibility to mycobacterial disease (MSMD) |
... IL-12p40 or IL-12R beta 1 are milder clinically and can be treated with IFN-gamma because that receptor is still intact. Complete recessive mutations in STAT1 are more severe than any of the others because they ... | Primary immunodeficiency |
(IMD27) IFNGR1 [HSA:3459] [KO:K05132] (IMD28) IFNGR2 [HSA:3460] [KO:K05133] (IMD29) IL12B [HSA:3593] [KO:K05425] (IMD30) IL12RB1 [HSA:3594] [KO:K05063] (IMD31) STAT1 [HSA:6772] [KO:K11220] (IMD32) IRF8 [HSA:3394] [KO:K10155] (IMD33) IKBKG [HSA:8517] [KO:K07210] (IMD34) CYBB [HSA:1536] [KO:K21421] (IMD38) ISG15 [HSA:9636] [KO:K12159] (IMD42) RORC [HSA:6097] [KO:K08534] |
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| H00119 | Congenital disorders of glycosylation type II | ... subtypes have been identified although the numbers and forms of affected individuals with CDG-I are still much more. In contrast to type I, the type II patients show a more severe psychomotor retardation ... | Inherited metabolic disorder |
(CDG2A) MGAT2 [HSA:4247] [KO:K00736] (CDG2B) GCS1 [HSA:7841] [KO:K01228] (CDG2C) SLC35C1 [HSA:55343] [KO:K15279] (CDG2D) B4GALT1 [HSA:2683] [KO:K07966] (CDG2E) COG7 [HSA:91949] [KO:K20294] (CDG2F) SLC35A1 [HSA:10559] [KO:K15272] (CDG2G) COG1 [HSA:9382] [KO:K20288] (CDG2H) COG8 [HSA:84342] [KO:K20295] (CDG2I) COG5 [HSA:10466] [KO:K20292] (CDG2J) COG4 [HSA:25839] [KO:K20291] (CDG2K) TMEM165 [HSA:55858] [KO:K23541] (CDG2L) COG6 [HSA:57511] [KO:K20293] (CDG2M) SLC35A2 [HSA:7355] [KO:K15272] (CDG2N) SLC39A8 [HSA:64116] [KO:K14714] (CDG2O) CCDC115 [HSA:84317] [KO:K23543] (CDG2P) TMEM199 [HSA:147007] [KO:K23542] (CDG2Q) COG2 [HSA:22796] [KO:K20289] (CDG2R) ATP6AP2 [HSA:10159] [KO:K19514] (CDG2S) ATP6AP1 [HSA:537] [KO:K03662] (CDG2T) GALNT2 [HSA:2590] [KO:K00710] (CDG2V) EDEM3 [HSA:80267] [KO:K10086] (CDG2W) SLC37A4 [HSA:2542] [KO:K08171] (CDG2Y) GET4 [HSA:51608] [KO:K23387] (CDG2Z) CAMLG [HSA:819] [KO:K22385] (CDG2AA) STX5 [HSA:6811] [KO:K08490] (CDG2BB) COG3 [HSA:83548] [KO:K20290] |
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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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| H00320 | Helicobacter pylori infection | ... Persistent infection can cause inflammation and gastritis that may lead to carcinogenesis. Transmission is still not entirely clarified, but human-to-human spread through oral-oral or fecal-oral route is thought ... | Bacterial infectious disease | hsa05120 Epithelial cell signaling in Helicobacter pylori infection | |
| H00343 | Diphtheria | ... became widespread in the 1940s and the incidence of the disease markedly decreased. However, diphtheria still remains endemic in several regions including Africa, India, Bangladesh, Vietnam, the tropics, and ... | Bacterial infectious disease | ||
| H00427 | Relapsing fever | ... ticks or lice. Louse-borne relapsing fever is now geographically limited, but tick-borne relapsing fever still causes major health problems in Africa. The symptoms are variable. Although relapsing fever is ... | Bacterial infectious disease | ||
| H00469 | Mitochondrial DNA depletion syndrome | ... multisystemic disorders. Some genes are known to underlie this group of disorders, and many disease genes are still unidentified. However, the disease mechanisms seem to be intimately associated with mtDNA replication ... | Inherited metabolic disorder, Mitochondrial disease |
(MTDPS1) TYMP [HSA:1890] [KO:K00758] (MTDPS2) TK2 [HSA:7084] [KO:K00857] (MTDPS3) DGUOK [HSA:1716] [KO:K00904] (MTDPS4A/4B) POLG [HSA:5428] [KO:K02332] (MTDPS5) SUCLA2 [HSA:8803] [KO:K01900] (MTDPS6) MPV17 [HSA:4358] [KO:K13348] (MTDPS7) TWNK [HSA:56652] [KO:K17680] (MTDPS8A/8B) RRM2B [HSA:50484] [KO:K10808] (MTDPS9) SUCLG1 [HSA:8802] [KO:K01899] (MTDPS10) AGK [HSA:55750] [KO:K09881] (MTDPS11) MGME1 [HSA:92667] [KO:K19465] (MTDPS12A/12B) SLC25A4 [HSA:291] [KO:K05863] (MTDPS13) FBXL4 [HSA:26235] [KO:K10270] (MTDPS14) OPA1 [HSA:4976] [KO:K17079] (MTDPS15) TFAM [HSA:7019] [KO:K11830] (MTDPS16/16B) POLG2 [HSA:11232] [KO:K02333] (MTDPS17) MRM2 [HSA:29960] [KO:K02427] (MTDPS18) SLC25A21 [HSA:89874] [KO:K15110] (MTDPS19) SLC25A10 [HSA:1468] [KO:K13577] (MTDPS20) LIG3 [HSA:3980] [KO:K10776] |
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| H00775 | Hemiplegic migraine | ... quarter of the large families affected and most sporadic cases do not have a mutation in the three genes known to be implicated in this disorder, suggesting that other genes are still to be identified. | Nervous system disease |
(FHM1, SHM1) CACNA1A [HSA:773] [KO:K04344] (FHM2, SHM2) ATP1A2 [HSA:477] [KO:K01539] (FHM3) SCN1A [HSA:6323] [KO:K04833] |
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| H00789 | Keratoconus | Keratoconus (KTCN) is a frequent corneal ectasia characterized by localized corneal thinning and protrusion. Its exact cause is still unknown and is probably multifactorial. | Nervous system disease |
(KTCN1) VSX1 [HSA:30813] [KO:K09335] (KTCN9) TUBA3D [HSA:113457] [KO:K07374] |
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| H00883 |
Lipoid proteinosis Urbach-Wiethe disease |
... manifestation. The disorder has been shown to result from loss-of-function mutations in the extracellular matrix protein 1 gene. The function of the protein extracellular matrix protein 1 gene is still unclear. | Congenital malformation | ECM1 [HSA:1893] [KO:K23867] | |
| H01253 | Isolated follicle-stimulating hormone deficiency | ... necessary for normal spermatogenesis and when FSH function is completely absent, infertility occurs. With partial FSH deficiency in males, spermatogenesis is affected, but fertility may still be possible. | Endocrine and metabolic disease | FSHB [HSA:2488] [KO:K05250] | |
| H01265 | Hydrolethalus syndrome | Hydrolethalus syndrome (HLS) is an autosomal recessive lethal malformation syndrome leading to stillbirth or death shortly after birth. HLS is characterized by hydrocephaly with absent upper midline structures ... | Congenital malformation |
(HLS1) HYLS1 [HSA:219844] [KO:K16472] (HLS2) KIF7 [HSA:374654] [KO:K18806] |
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| H01282 | Spermatogenic failure | ... oligozoospermia, teratozoospermia or asthenozoospermia. The genetic causes of spermatogenetic failure still remain largely unknown. It has been estimated that more than 2300 genes play a role in spermatogenesis | 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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| H01468 |
Eosinophilic granulomatosis with polyangiitis Churg-Strauss syndrome |
... most studied genetic determinants. A combination of high-dose corticosteroids and cyclophosphamide is still the gold standard for the treatment of severe cases, but the use of biological agents such as rituximab ... | Immune system disease | ||
| H01475 |
Lipodystrophy Lipoatrophy |
... lipodystrophies has been discovered. Compared with them, the causes of the acquired lipodystrophies are still unknown, but mainly related to autoimmune mechanism, medications or other unknown mechanisms. | Inherited metabolic disorder | ||
| H01476 |
Behcet disease Behcet syndrome |
... along the ancient Silk Road, including Asia, Middle East, and Mediterranean. Although the etiology is still unknown, this disease is believed to be triggered by environmental factors such as microbial agents ... | Immune system disease; Skin disease | ||
| H01482 | Infantile hemangioma | ... bleeding, infection, pain, cardiac failure, airway compromise or eye impairment. Pathogenesis of IH is still shrouded in mystery even though various theories have been postulated to explain its origin. Recent ... | Neoplasm |
TEM8 [HSA:84168] [KO:K20909] VEGFR2 [HSA:3791] [KO:K05098] |
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| H01502 | Sjogren syndrome | ... salivary gland biopsies. Recently, salivary biomarkers of SS has been investigated. The etiology of SS is still unclear. Since there is a familial aggregation of primary SS, however, genetic factors have been ... | Immune system disease | ||
| H01516 |
Adult onset Still disease Adult Still disease |
Adult-onset Still disease (AOSD) is a systemic inflammatory disorder. The disease manifestations are protean ranging from high fever, arthralgia, skin rash, sore throat, lymphadenopathy, and hepatosplenomegaly ... | Immune system disease | ||
| H01530 |
Pinta Mal del pinto Carate |
... treponematoses since it affects only the skin. This mild disease is characterized solely by alterations in skin color. Pinta is still prevalent in remote rural regions in tropical Central and South America. | Bacterial infectious disease | ||
| H01578 | Subacute myelo-optico-neuropathy (SMON) | ... September 1970, there was a dramatic disappearance of new case of SMON. However, in Japan, there are still more than 2500 SMON patients suffering from severe dysesthesia/paresthesia and ataxic paraplegia | Neurodegenerative disease | ||
| H01604 | Polymyositis and dermatomyositis | ... pathogenesis of PM and DM. Treatment of inflammatory myopathies is generally empirical. Corticosteroids still remain the agents of choice for the initial treatment, but their use is limited by the high frequency ... | Musculoskeletal disease | ||
| H01664 | Panic disorder | ... certain lifestyle factors (e.g. smoking) increase the risk for the disorder, but causal pathways are still unclear. In recent years, an association was found between panic symptoms and increased activity ... | Mental and behavioural disorder | ||
| H01672 | Juvenile idiopathic arthritis | ... psoriatic JIA, enthesitis- related arthritis, and undifferentiated arthritis. Systemic JIA, also known as Still's disease, is a subtype with strong systemic clinical symptoms. Patients with systemic JIA have ... | Immune system disease |
IL6 [HSA:3569] [KO:K05405] MIF [HSA:4282] [KO:K07253] (JUVAR) LACC1 [HSA:144811] [KO:K05810] |
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| H01681 | Acute pancreatitis | ... systemic inflammatory response syndrome (SIRS). Although effective therapies for acute pancreatitis are still limited, protease inhibitors have been considered to be a potential treatment to inhibit the pancreatic ... | Digestive system disease | ||
| H01686 |
Idiopathic portal hypertension Non-cirrhotic portal fibrosis Banti syndrome |
... and/or surgical management for esophageal varices and/or splenomegaly. The definite etiology of IPH is still uncertain, but there are several theories on the potential pathogenesis of IPH. These theories ... | Digestive system disease | ||
| H01694 |
Stevens-Johnson syndrome Toxic epidermal necrolysis Lyell syndrome |
... associated with the specific variants of the human leukocyte antigen HLA-A and HLA-B genes. There is still no consensus on a definite treatment method for SJS-TEN. Systemic steroids and IVIG are used most ... | Immune system disease; Skin disease |
HLA-A [HSA:3105] [KO:K06751] HLA-B [HSA:3106] [KO:K06751] |
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| H01700 | Hypopituitarism | ... Sheehan's syndrome is hypopituitarism caused by the postpartum hemorrhage of the pituitary gland. In still rarer cases, solitary or complicated pituitary hormone deficiency syndromes may occur due to genetic ... | Endocrine and metabolic disease |
GHRH [HSA:2691] [KO:K05260] TRH receptor [HSA:7201] [KO:K04282] |
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| H01776 | Aicardi syndrome | ... intractable epilepsy, hypotonia and limb hypertonia with spasticity. The etiology of Aicardi syndrome is still unknown. However, as the disorder is only observed in females and in males with chromosome 47, ... | Congenital malformation | ||
| H01785 | Tricuspid atresia | ... adequate surgical technique for its correction. The genetic mechanism responsible of tricuspid atresia is still obscure. However, animal models have suggested a role of cardiogenic Zfpm2/Fog2 and Hey2 genes ... | Congenital malformation | ||
| H01829 | Acute encephalitis with refractory repetitive partial seizures | ... Benzodiazepines, mainly midazolam, were partially effective in some patients. The pathogenesis of AERRPS is still poorly understood. It is currently suspected to represent an inflammatory disorder of the central ... | Nervous system disease | ||
| H01863 |
Atopic myelitis Eosinophilic myelitis |
... atopic dermatitis, bronchial asthma, allergic rhinitis and food allergies. Although the pathogenesis is still poorly understood, it has been reported that CCL11 and IL-9 were significantly increased in patients ... | Immune system disease | ||
| H01864 | Excessive secretion of growth hormone | ... mechanism, but differ regarding the age of onset. Gigantism occurs much earlier in life when the skeleton still has the potential to grow, a developmental phase now known as prepubertal. Although most cases ... | Endocrine and metabolic disease |
AIP [HSA:9049] [KO:K17767] GPR101 [HSA:83550] [KO:K08423] |
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| H02674 | Atrial standstill | Atrial standstill (AS, ATRST) is a rare cardiac arrhythmia characterized by transient or persistent absence of electrical and mechanical activity in the atria. On surface electrocardiogram, AS is distinguished ... | Cardiovascular disease |
(ATRST1) GJA5 [HSA:2702] [KO:K07614] (ATRST2) NPPA [HSA:4878] [KO:K12334] |
| [ KEGG | DISEASE | DRUG | MEDICUS ] |