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| Entry | Name | Description | Category | Pathway | Gene |
|---|---|---|---|---|---|
| H00025 | Penile cancer | Penile cancer is a disease with a high morbidity and mortality. Its prevalence is relatively rare in developed countries but more common in South America and East Africa. Squamous cell carcinoma (SCC) ... | Cancer |
p16/INK4a (promoter hypermethylation) [HSA:1029] [KO:K06621] BMI1 (overexpression) [HSA:648] [KO:K11459] p53 (mutation) [HSA:7157] [KO:K04451] MDM2 (overexpression) [HSA:4193] [KO:K06643] H-ras (mutation) [HSA:3265] [KO:K02833] c-MYC (mutation) [HSA:4609] [KO:K04377] E-Cadherin (expression) [HSA:999] [KO:K05689] MMP-2 (expression) [HSA:4313] [KO:K01398] MMP-9 (expression) [HSA:4318] [KO:K01403] COX-2 (expression) [HSA:5743] [KO:K11987] PTGES2 (expression) [HSA:80142] [KO:K05309] |
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| H00324 | Scrub typhus | ... caused by Orientia tsutsugamushi, an obligate intracellular bacterium that is transmitted by the Leptotrombidium species mite. The disease is confined to East Asia and characterized by fever, rash, eschar, pneumonitis ... | Bacterial infectious disease | ||
| H00363 | Candidiasis | ... with Candida species, predominantly with Candida albicans. Invasive candidiasis is a major cause of morbidity and mortality in the intensive care unit (ICU) setting, causing bloodstream infections. Recently ... | Fungal infectious disease | ||
| H00368 |
Cytomegalovirus infection CMV infection |
... multiple organs and can later be reactivated. CMV is an important and common cause of mortality and morbidity in immunocompromised patients such as those with HIV/AIDS or transplant recipients on immunosuppressive ... | Viral infectious disease | hsa05163 Human cytomegalovirus infection | |
| H00653 | Marfan syndrome | ... body involving the skeletal, ocular, and cardiovascular systems. Cardiac manifestations are significant contributors to morbidity and mortality. MFS is caused by mutations in the gene for fibrillin-1. | Congenital malformation | FBN1 [HSA:2200] [KO:K06825] | |
| H00915 |
Tuberous sclerosis complex Bourneville-Pringle disease |
... which is inherited in an autosomal dominant manner. Patients with TSC are frequently diagnosed with comorbid neurological disorders, including epilepsy, intellectual disability, behavioral dysregulation, sleep ... | Congenital malformation |
(TSC1) TSC1 [HSA:7248] [KO:K07206] (TSC2) TSC2 [HSA:7249] [KO:K07207] |
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| H01090 | Ascariasis | ... commonly documented parasitic infection in sub-Saharan Africa, the Americas, China, and east Asia. Morbidity and mortality increase with worm burden and those who harbor light infections tend to be asymptomatic | Parasitic infectious disease | ||
| H01175 | Staphylococcal infection | ... osteomyelitis, and breast abscess. Endocarditis caused by S. lugdunensis can lead to substantial morbidity and mortality. Secondly, Staphylococcus haemolyticus, found among the normal skin flora, is commonly ... | Bacterial infectious disease | ||
| H01321 | Pneumococcal disease | ... and invasive disease have changed as a result of pneumococcal vaccination in children. However, especially elderly patients with comorbidities remain vulnerable to morbidity and mortality caused by PD. | Bacterial infectious disease | ||
| H01426 | Invasive streptococcal disease | ... mid-1980s, there have been reports from around the world of an increase in the incidence, and associated morbidity and mortality. One of clinical presentations is group A streptococcal toxic shock syndrome, which ... | Bacterial infectious disease | ||
| H01438 | Neurofibromatosis type 2 | ... suppressor gene. The course of the disease is usually progressive, though variable, causing significant morbidity associated with deafness, blindness, brain stem compression, gait instability, and paralysis. ... | Congenital malformation | NF2 [HSA:4771] [KO:K16684] | |
| H01449 |
Excoriation disorder Skin picking disorder |
... triggers. Co-occurring psychiatric conditions are common in this disease. The most commonly reported comorbid conditions are trichotillomania, substance dependence, major depressive disorder, anxiety disorders ... | Mental and behavioural disorder | ||
| H01483 | Acromegaly | ... circulating GH and IGF-I (a GH-induced liver protein) levels that is associated with significant morbidity and excess mortality. Patients with persistently elevated GH and IGF-I levels have an increased ... | Endocrine and metabolic disease |
AIP [HSA:9049] [KO:K17767] GNAS [HSA:2778] [KO:K04632] GPR101 [HSA:83550] [KO:K08423] |
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| H01500 | Lupus nephritis | ... up to 90% of the cases. This disease is one of the most serious complications of SLE, with a high morbidity and mortality. Clinical manifestations of active lupus nephritis include proteinuria, active urinary ... | Immune system disease | ||
| H01532 | Gout | ... to 10 days could become a milder, but constant pain. Eventually, untreated gout can cause other comorbidities such as high blood pressure, diabetes, chronic kidney disease and cardiovascular disease. The ... | Musculoskeletal disease |
(GOUT1) ABCG2 [HSA:9429] [KO:K05681] (GOUT2) SLC2A9 [HSA:56606] [KO:K08146] (GOUT4) SLC17A3 [HSA:10786] [KO:K12300] (GOUT5/DLACD) LDHD [HSA:197257] [KO:K00102] |
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| H01563 | HIV infection | ... therapy (HAART) as the standard of care for the treatment of HIV infection was seminal in reducing the morbidity and mortality associated with HIV infection and progression to AIDS. Combination antiretroviral ... | 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] |
| H01631 | Acute heart failure | ... gradual/rapidly worsening heart failure (HF), requiring urgent therapy. Intrinsic cardiac abnormalities and comorbid conditions, including lung and renal disease, and sleep-disordered breathing, can contribute to the ... | Cardiovascular disease | PPA2 [HSA:27068] [KO:K01507] | |
| H01682 | Syndrome of inappropriate antidiuretic hormone secretion | ... syndrome induced by abnormally secreted arginine vasopressin (ADH/AVP) from cancer cells. Another is the morbidity caused by inappropriately secreted ADH from the pituitary gland. In both situations of SIADH, ... | Endocrine and metabolic disease | AVPR2 [HSA:554] [KO:K04228] | |
| H01700 | Hypopituitarism | ... degree and severity of hormone deficiency. However, it is associated with increased mortality and morbidity. A variety of diseases may cause hypopituitarism and, accordingly, this disorder can be divided ... | Endocrine and metabolic disease |
GHRH [HSA:2691] [KO:K05260] TRH receptor [HSA:7201] [KO:K04282] |
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| H01705 | Bilateral sudden sensorineural hearing loss | ... serious systemic pathology, and is associated with a more severe degree of hearing loss, poorer prognosis following treatment, and more significant impairment in morbidity and overall quality of life. | Nervous system disease |
ACTG1 [HSA:71] [KO:K05692] CDH23 [HSA:64072] [KO:K06813] COCH [HSA:1690] [KO:K23574] KCNQ4 [HSA:9132] [KO:K04929] TECTA [HSA:7007] [KO:K18273] TMPRSS3 [HSA:64699] [KO:K09634] WFS1 [HSA:7466] [KO:K14020] |
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| H01706 | Delayed endolymphatic hydrops | ... typically used for Meniere's disease, including the appropriate concomitant use of diuretics, such as isosorbide or steroids for at least 3-6 months. When recurrent episodic vertigo cannot be remedied through ... | Nervous system disease | ||
| H01714 |
Chronic obstructive pulmonary disease (COPD) Emphysema |
... inflammation in response to chronic exposure to noxious particulates and gases and with a number of comorbid conditions. The onset of COPD generally occurs in the 6th to 8th decades of life. Early onset COPD ... | Respiratory system disease |
SERPINA1 [HSA:5265] [KO:K03984] HMOX1 [HSA:3162] [KO:K00510] MMP1 [HSA:4312] [KO:K01388] |
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| H01716 | Idiopathic interstitial pneumonias | ... to their chronic lung disease. Dyspnoea, cough, fatigue and depression contribute substantially to morbidity and are often difficult to manage. It has been reported that pulmonary rehabilitation plays a ... | Respiratory system disease | ||
| H01725 | Primary immunodeficiency disease | ... B-cell or combined immunodeficiencies) or of innate immunity (e.g., phagocyte and complement disorders). Early diagnosis and treatment are imperative for preventing significant disease-associated morbidity. | 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] |
| H01785 | Tricuspid atresia | ... pulmonary blood flow is a prominent feature in tricuspid atresia. The malformation brings about high morbidity and mortality, thus requiring the utilization of an adequate surgical technique for its correction ... | Congenital malformation | ||
| H01855 | Biliary atresia | ... only half of the time. Approximately 80% of patients require one or more liver transplantations with the associated morbidity and mortality issues caused by life-long transplant-related immunosuppression. | Congenital malformation | ||
| H01882 | Asperger syndrome | ... not with a decrease in intelligence or linguistic functionality. AS may be present with several comorbid disorders including attention deficit hyperactivity disorder, anxiety, schizophrenia, bipolar disorder ... | Mental and behavioural disorder |
NLGN3 [HSA:54413] [KO:K07378] NLGN4 [HSA:57502] [KO:K07378] |
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| H01926 | Ventricular septal defect | ... cardiovascular developmental anomaly and is an important risk factor for the substantially increased morbidity and mortality in newborns. Congenital heart disease (CHD) is divided into more than 30 subtypes ... | Cardiovascular disease |
(VSD1) GATA4 [HSA:2626] [KO:K09183] (VSD2) CITED2 [HSA:10370] [KO:K21361] (VSD3) NKX2-5 [HSA:1482] [KO:K09345] |
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| H02028 | Filariasis | Lymphatic filariasis, onchocerciasis, mansonelliasis and loiasis caused by parasitic roundworms (nematodes) called filariae are diseases of tropical and subtropical countries causing high morbidity. | Parasitic infectious disease | ||
| H02136 |
Branched-chain ketoacid dehydrogenase kinase deficiency BCKDK deficiency |
Branched-chain ketoacid dehydrogenase kinase (BCKDK) deficiency is a familial comorbid intellectual disability, autism, and epilepsy, caused by mutations in the BCKDK. Patients also showed abnormally low ... | Inherited metabolic disorder | BCKDK [HSA:10295] [KO:K00905] | |
| H02235 | Morbid obesity and spermatogenic failure | Morbid obesity and spermatogenic failure (MOSPGF) is an autosomal recessive morbid obesity syndrome. Mutations in CEP19, the gene encoding the ciliary protein, have been identified in patients. | Endocrine and metabolic disease | CEP19 [HSA:84984] [KO:K16801] | |
| H02481 | Syndromic disorder with short stature | Short stature is one of the major components of many dysmorphic syndromes. Growth failure may be due to a wide variety of mechanisms, either related to the growth hormone (GH) or to underlying unknown ... | Congenital malformation |
(SAMS) GSC [HSA:145258] [KO:K09324] (SBIDDS) PRMT7 [HSA:54496] [KO:K11438] (SIMHA) ZNF407 [HSA:55628] [KO:K26729] (SOFT) POC1A [HSA:25886] [KO:K16482] (SOFM) POLR3GL [HSA:84265] [KO:K03024] (SOPH) NBAS [HSA:51594] [KO:K20473] (SRMMD) ARCN1 [HSA:372] [KO:K20471] (SSASKS) SLC10A7 [HSA:84068] [KO:K14347] (SSFSC1) BMP2 [HSA:650] [KO:K21283] (SSFSC2) SCUBE3 [HSA:222663] [KO:K24468] |
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| H02536 | Infection-induced acute encephalopathy | ... characterized by a high-grade fever, often leading to coma, multiple-organ failure, brain edema, and high morbidity and mortality. The infections are usually viral, such as influenza, parainfluenza, and herpes ... | Nervous system disease; Infectious disease |
(IIAE1) UNC93B1 [HSA:81622] [KO:K26150] (IIAE2) TLR3 [HSA:7098] [KO:K05401] (IIAE3) RANBP2 [HSA:5903] [KO:K12172] (IIAE4) CPT2 [HSA:1376] [KO:K08766] (IIAE5) TRAF3 [HSA:7187] [KO:K03174] (IIAE6) TICAM1 [HSA:148022] [KO:K05842] (IIAE7) IRF3 [HSA:3661] [KO:K05411] (IIAE8) TBK1 [HSA:29110] [KO:K05410] (IIAE9) NUP214 [HSA:8021] [KO:K14317] (IIAE10) SNORA31 [HSA:677814] [KO:K26336] (IIAE11) DBR1 [HSA:51163] [KO:K18328] (IIAE12) RNH1 [HSA:6050] [KO:K16634] |
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