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| Entry | Name | Description | Category | Pathway | Gene |
|---|---|---|---|---|---|
| H01453 | Obsessive-Compulsive and Related Disorder | Obsessive-Compulsive and Related Disorder (OCRD) is a group of disorders that is characterized by having preoccupations (obsessions) and/or repetitive behaviors (compulsions). Previously, Obsessive-compulsive ... | Mental and behavioural disorder | ||
| H01458 | Nontuberculous mycobacterial infection | ... clinical diseases, for instance, pulmonary disease is most frequent, followed by lymphadenitis in children, skin disease and other extrapulmonary or disseminated infections in the severely immunocompromised. | Bacterial infectious disease | ||
| H01462 | Rapidly growing mycobacteria infection | ... recently described species, caused significant infections in patients with cancer, including catheter-related bacteremia, disseminated infection, bronchopulmonary infections, dermatitis, cellulitis, and ... | Bacterial infectious disease | ||
| H01464 | Mantle cell lymphoma | ... dysregulation in almost all cases. Clinically, MCL shows an aggressive clinical course with a continuous relapse pattern and a median survival of only 3-5 years. However, recently a subset of 15% long-term ... | Cancer |
Cyclin D1 (overexpression) [HSA:595] [KO:K04503] p16/INK4a (deletion) [HSA:1029] [KO:K06621] p53 (mutation) [HSA:7157] [KO:K04451] |
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| H01467 |
Primary biliary cholangitis Primary biliary cirrhosis |
... sixth decade of life. The most common symptoms are pruritus. It is not clear what causes PBC. It may be relate to problems in the autoimmune mechanism. The increased risk of genetic predisposition and environmental ... | Digestive system disease | ||
| H01474 |
Acquired generalized lipodystrophy Lawrence syndrome |
... disorder usually appear severe hepatic steatosis and fibrosis, diabetes, and hypertriglyceridemia. Metreleptin, as a recombinant analog of human leptin, has been approved for the treatment for the disorder ... | Inherited metabolic disorder | ||
| 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 |
Behcet disease is a multisystemic inflammatory disease characterized by relapsing episodes of oral aphthous ulcers, genital ulcers, other skin lesions, and uveitis. It can also involve visceral organs ... | Immune system disease; Skin disease | ||
| H01489 |
Inherited glycosylphosphatidylinositol deficiencies Glycosylphosphatidylinositol biosynthesis deficiency |
... involved in the biosynthesis of GPI anchors. Mutations in several genes have been identified, mostly related to autosomal recessive. Clinical phenotypes are variable, often include developmental delay, ... | Inherited metabolic disorder |
(GPIBD1) PIGM [HSA:93183] [KO:K05284] (GPIBD2) PIGV [HSA:55650] [KO:K07542] (GPIBD3) PIGN [HSA:23556] [KO:K05285] (GPIBD4) PIGA [HSA:5277] [KO:K03857] (GPIBD5) PIGL [HSA:9487] [KO:K03434] (GPIBD6) PIGO [HSA:84720] [KO:K05288] (GPIBD7) PIGT [HSA:51604] [KO:K05292] (GPIBD8) PGAP2 [HSA:27315] [KO:K23552] (GPIBD9) PGAP1 [HSA:80055] [KO:K05294] (GPIBD10) PGAP3 [HSA:93210] [KO:K23553] (GPIBD11) PIGW [HSA:284098] [KO:K05283] (GPIBD12) PIGY [HSA:84992] [KO:K11001] (GPIBD13) PIGG [HSA:54872] [KO:K05310] (GPIBD14) PIGP [HSA:51227] [KO:K03861] (GPIBD15) GPAA1 [HSA:8733] [KO:K05289] (GPIBD16) PIGC [HSA:5279] [KO:K03859] (GPIBD17) PIGH [HSA:5283] [KO:K03858] (GPIBD18) PIGS [HSA:94005] [KO:K05291] (GPIBD19) PIGQ [HSA:9091] [KO:K03860] (GPIBD20) PIGB [HSA:9488] [KO:K05286] (GPIBD21) PIGU [HSA:128869] [KO:K05293] (GPIBD22) PIGK [HSA:10026] [KO:K05290] (GPIBD25) C18orf32 [HSA:497661] |
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| H01490 | Multiple sclerosis | ... disease typically strikes young adults, especially women. There are four types of MS according to their relapsing or progressive pattern that include relapsing-remitting (RRMS), secondary progressive (SPMS) ... | Immune system disease |
(MS) PDCD1 [HSA:5133] [KO:K06744] (MS) HLA-DRB1 [HSA:3123] [KO:K06752] (MS) HLA-DQB1 [HSA:3119] [KO:K06752] (MS5) TNFRSF1A [HSA:7132] [KO:K03158] |
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| H01491 |
Neuromyelitis optica Devic disease |
... complement, and cytokines from the blood. Besides, immunosuppressant agents interfering with the function of T and B cells have been shown to prevent disease relapses and reduce neurological disability in NMO. | Immune system disease | ||
| H01492 |
Systemic sclerosis Systemic scleroderma |
... 90% of patients, and these ANA react against various intracellular components. However, one patient rarely has two or more types of ANA. The particular ANA types are often indicative of clinical features ... | Immune system disease; Skin disease | ||
| H01506 |
Hepatic encephalopathy Hepatic coma |
... manifestations that ranges from mild cognitive impairment to coma. Although its pathogenesis is not entirely understood, one of the main factors is thought to be ammonia. Apart from hyperammonemia, various ... | Nervous system disease; Digestive system disease | ||
| H01509 | Tonsillar cancer | ... associated with c-myc amplification and HIF-1a overexpression. HPV-16 integration could be directly related to tonsillar carcinogenesis initially in tonsillar crypts, followed by cell cycle aberration ... | Cancer |
CDKN2A (overexpression) [HSA:1029] [KO:K06621] MYC (amplification) [HSA:4609] [KO:K04377] HIF1A (overexpression) [HSA:3091] [KO:K08268] |
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| H01513 | Retinoblastoma | ... retinoblastoma tumor suppressor gene RB1, followed by a series of other genetic alterations that correlate with the clinical stage and pathologic findings of the tumor. In retinoblastoma, mutation of RB1 ... | Cancer |
RB1 (mutation) [HSA:5925] [KO:K06618] MDM4 (amplification) [HSA:4194] [KO:K10127] MDM2 (amplification) [HSA:4193] [KO:K06643] KIF14 (amplification) [HSA:9928] [KO:K17915] CDH11 (loss) [HSA:1009] [KO:K06803] p16/INK (loss) [HSA:1029] [KO:K06621] |
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| H01522 | Zollinger-Ellison syndrome | ... rare endocrinopathy caused by tumors of the pancreas and duodenum. These tumors, called gastrinomas, release gastrin to produce large amounts of acid that result in severe gastroesophageal peptic ulcer ... | Endocrine and metabolic disease | MEN1 [HSA:4221] [KO:K14970] | |
| H01525 |
22q11.2 deletion syndrome CATCH22 |
... associated with 22q11.2 deletion is becoming wider and wider. Some cardiovascular abnormalities are relatively specific for the syndrome. An interruption of the aortic arch, type-B (IAA-B) is associated ... | Chromosomal abnormality | TBX1 [HSA:6899] [KO:K10175] | |
| H01527 | Chronic inflammatory demyelinating polyradiculoneuropathy | ... 10% eventually becoming persistently disabled. The core clinical features are a chronic progressive or relapsing and remitting, symmetrical, and sensory and motor polyradiculoneuropathy causing weakness of ... | Immune system disease; Nervous system disease | ||
| H01559 | Oropharyngeal cancer | ... now recognised as a causative agent in a subset of OPSCCs. HPV-driven OPSCC and tobacco- and alcohol-related OPSCC are biologically distinct entities. In the former, p53 and pRb are both inactivated at ... | Cancer |
TP53 (mutation) [HSA:7157] [KO:K04451] EGFR (amplification, overexpression) [HSA:1956] [KO:K04361] |
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| H01561 |
Chiari malformation Arnold-Chiari syndrome |
... of acquired Chiari malformations involve injuries, exposure to harmful substances, infections. More rarely, chronic subdural hematoma can be the cause of progressive caudal descent of the cerebellar tonsils ... | Congenital malformation | ||
| H01563 | HIV infection | ... characterized. HIV-1 is the most virulent and pathogenic strain. Worldwide, the predominant virus is HIV-1. The relatively uncommon HIV-2 type is concentrated in West Africa and is rarely found elsewhere. Infection ... | Viral infectious disease | hsa05170 Human immunodeficiency virus 1 infection |
CCR5 (resistance) [HSA:1234] [KO:K04180] CCR2 (resistance) [HSA:729230] [KO:K04177] TLR3 (resistance) [HSA:7098] [KO:K05401] CXCL12 (resistance) [HSA:6387] [KO:K10031] CCL2 (resistance) [HSA:6347] [KO:K14624] CCL3 (resistance) [HSA:6348] [KO:K05408] CCL11 (resistance) [HSA:6356] [KO:K16597] IL10 (susceptibility) [HSA:3586] [KO:K05443] CD209 (susceptibility) [HSA:30835] [KO:K06563] HLA-C (susceptibility) [HSA:3107] [KO:K06751] CCL3L1 (susceptibility) [HSA:6349] [KO:K05408] IFNG (rapid progression) [HSA:3458] [KO:K04687] CX3CR1 (rapid progression) [HSA:1524] [KO:K04192] CXCR1 (slow progression) [HSA:3577] [KO:K04175] IL4R (slow progression) [HSA:3566] [KO:K05071] CCL5 (delayed/rapid progression) [HSA:6352] [KO:K12499] KIR3DL1 (delayed/rapid progression) [HSA:3811] [KO:K07980] |
| H01566 | Beriberi | ... encephalopathy, and wet beriberi with cardiovascular involvement including high cardiac output heart failure. Rarely, a fulminant or pernicious variant, termed Shoshin beriberi may occur, and is characterized by cardiovascular ... | Endocrine and metabolic disease | ||
| H01585 | Autoimmune hemolytic anemia | Autoimmune hemolytic anemia (AIHA) is a relatively uncommon disorder caused by the increased destruction of red blood cells (RBCs) by anti-RBC autoantibodies with or without complement activation. AIHAs ... | Hematologic disease | ||
| H01590 | Chronic eosinophilic leukemia | ... peripheral tissues. In most patients with CEL (about 60%), eosinophils display PDGFRA-fusion genes and related cytogenetic defects. The most commonly detected oncoprotein is FIP1L1/PDGFRA. FIP1L1-PDGFRA is ... | Cancer |
FIP1L1-PDGFRA (deletion) [HSA:5156] [KO:K04363] BCR-PDGFRA (translocation) [HSA:5156] [KO:K04363] |
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| H01593 | Osteoporosis | ... fracture risk. Osteoporosis is a polygenic disorder, determined by the effects of several genes, each with relatively modest effects. Population-based studies and case-control studies have similarly identified ... | Musculoskeletal disease |
(BMND1) LRP5 [HSA:4041] [KO:K03068] (BMND12) UGT2B17 [HSA:7367] [KO:K00699] (BMND15) MIR2861 [HSA:100422910] (BMND16) WNT1 [HSA:7471] [KO:K03209] (BMND17) LGR4 [HSA:55366] [KO:K04309] (BMND18) PLS3 [HSA:5358] [KO:K17336] (OPDD) COPB2 [HSA:9276] [KO:K17302] PDLIM4 [HSA:8572] [KO:K23353] CALCR [HSA:799] [KO:K04576] COL1A1 [HSA:1277] [KO:K06236] COL1A2 [HSA:1278] [KO:K06236] |
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| H01594 | Myasthenia gravis | ... antibodies directed against the acetylcholine receptor (AChR), muscle-specific kinase (MUSK), lipoprotein-related protein 4 (LRP4), or agrin in the postsynaptic membrane at the neuromuscular junction. Patients ... | Immune system disease; Nervous system disease | ||
| H01595 | Cutaneous lupus erythematosus | Cutaneous lupus erythematosus (CLE) is the skin-related form of lupus erythematosus (LE), with a broad spectrum of clinical manifestations and a variable course. CLE is a frequent finding in patients with ... | Immune system disease; Skin disease | ||
| H01596 | Lambert-Eaton myasthenic syndrome | ... voltage-gated calcium channel (VGCC) at the presynaptic nerve terminal play a major role in decreasing quantal release of acetylcholine (ACh). Clinically, LEMS patients suffer from characteristic muscle weakness ... | Immune system disease; Nervous system disease | ||
| H01601 | Anaplastic large-cell lymphoma | ... ALK-negative ALCL. pcALCL presents in the skin and, while it may involve locoregional lymph nodes, rarely disseminates. ALK-positive ALCL, by definition overexpresses an ALK-fusion gene, typically via t(2;5)(p23;35) ... | Cancer |
NPM-ALK (translocation) [HSA:238] [KO:K05119] DUSP22-IRF4 (translocation) [HSA:56940] [KO:K14165] |
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| H01602 | Gastroesophageal reflux disease | ... complications of peptic esophagitis may occur including esophageal strictures, Barrett's oesophagus, and rarely esophageal adenocarcinoma. Hiatus hernia is statistically associated with GERD, the presence of ... | Digestive system disease | ||
| H01604 | Polymyositis and dermatomyositis | ... presenting with weakness of the proximal muscles that evolves over weeks to months and affects adults, but rarely children. DM typically includes subacute progressive proximal muscle weakness and a skin rash. The ... | Musculoskeletal disease | ||
| H01606 | Polymyalgia rheumatica | Polymyalgia rheumatica (PMR) is a relatively common inflammatory rheumatic disease in people older than 50 years of age. PMR is a clinical condition defined as the presence of inflammatory pain in the ... | Musculoskeletal disease | ||
| H01607 | Galactorrhea | ... reasons, various pharmacologic and nonpharmacologic interventions have been used to suppress lactation and relieve associated symptoms. Pharmacological options mainly involve dopamine agonist medications. | Reproductive system disease | ||
| H01609 | Insomnia | ... common disorder with a prevalence of about 10% in the general population. The most common complaints related to insomnia are difficulty initiating sleep (sleep-onset insomnia), difficulty maintaining sleep ... | Nervous system disease | ||
| H01622 | Chronic thromboembolic pulmonary hypertension | ... arteriopathy that closely mimics pulmonary arterial hypertension. While the pathogenesis of CTEPH is not entirely understood, the primary pathophysiology appears to be related to an initial thrombotic event followed ... | Cardiovascular disease | ||
| H01626 | Arteriosclerosis obliterans | ... satisfactory, and medication is required to maintain the postoperative vascular patency. In order to relieve symptoms such as cold sensation and intermittent claudication, drug therapy such as antiplatelet ... | Cardiovascular disease | ||
| H01631 | Acute heart failure | ... noncardiac comorbidities, and administered drugs, etc. Because of the poor clinical outcome and the relevant associated morbidity and mortality, it remains a major public health issue with a substantial ... | Cardiovascular disease | PPA2 [HSA:27068] [KO:K01507] | |
| H01633 |
High blood pressure Hypertension |
... contraceptives. Blood pressure is a heritable trait; an estimated 30% of variance in blood pressure relates to genetic factors. Understanding of the genetic architecture of traits has progressed in rare ... | Cardiovascular disease |
(EHT) PTGIS [HSA:5740] [KO:K01831] (EHT) AGTR1 [HSA:185] [KO:K04166] (EHT) ADD1 [HSA:118] [KO:K18622] (EHT) AGT [HSA:183] [KO:K09821] (EHT) ECE1 [HSA:1889] [KO:K01415] (EHT) CYP3A5 [HSA:1577] [KO:K17690] (EHT) NOS3 [HSA:4846] [KO:K13242] (EHT) GNB3 [HSA:2784] [KO:K07825] NR3C2 [HSA:4306] [KO:K08555] (GRA) CYP11B2 [HSA:1585] [KO:K07433] (GRA) CYP11B1 [HSA:1584] [KO:K00497] (AME) HSD11B2 [HSA:3291] [KO:K00071] (LIDLS) SCNN1B [HSA:6338] [KO:K04825] (LIDLS) SCNN1G [HSA:6340] [KO:K04827] (LIDLS) SCNN1A [HSA:6337] [KO:K04824] |
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| H01638 |
Neuropathic pain Neuralgia |
... may result from various causes including cervical or lumbar radiculopathy, diabetic neuropathy, cancer-related neuropathic pain, postherpetic neuralgia, HIV-related neuropathy, spinal cord injury, trigeminal ... | Nervous system disease | ||
| H01639 | Endometriosis | ... the female pelvis but which can also be found in the connective tissue in the pelvis areas and, more rarely, in any anatomic district. It is a major cause of infertility, dysmenorrhea, dyspareunia, and chronic ... | Reproductive system disease |
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