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| Entry | Name | Description | Category | Pathway | Gene |
|---|---|---|---|---|---|
| H00008 | Burkitt lymphoma | Burkitt lymphoma (BL) is a highly aggressive mature B-cell non-Hodgkin's lymphoma consisting of endemic, sporadic, and immunodeficiency-associated variants. Endemic BL (eBL) affects children and young ... | Cancer |
MYC-IgH (translocation) [HSA:4609] [KO:K04377] p53 (mutation) [HSA:7157] [KO:K04451] p16/INK4A (promoter methylation) [HSA:1029] [KO:K06621] |
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| H00013 | Small cell lung cancer | ... cancer death among men and women in industrialized countries. Small cell lung carcinoma (SCLC) is a highly aggressive neoplasm, which accounts for approximately 25% of all lung cancer cases. Molecular mechanisms ... | Cancer | hsa05222 Small cell lung cancer |
MYC (amplification) [HSA:4609] [KO:K04377] BCL2 (overexpression) [HSA:596] [KO:K02161] FHIT [HSA:2272] [KO:K01522] TP53 [HSA:7157] [KO:K04451] RB1 [HSA:5925] [KO:K06618] PTEN [HSA:5728] [KO:K01110] PPP2R1B [HSA:5519] [KO:K03456] |
| H00028 | Choriocarcinoma | Gestational choriocarcinoma is a highly malignant epithelial tumor that can be associated with any type of gestational event, most often a complete hydatidiform mole (CM). CM occur in about one per 1000 ... | Cancer |
p53 (overexpression) [HSA:7157] [KO:K04451] MdM2 (overexpression) [HSA:4193] [KO:K06643] EGFR (overexpression) [HSA:1956] [KO:K04361] c-MYC (overexpression) [HSA:4609] [KO:K04377] ERBB2 (overexpression) [HSA:2064] [KO:K05083] c-FMS (overexpression) [HSA:1436] [KO:K05090] Bcl-2 (overexpression) [HSA:596] [KO:K02161] MMP-1 (overexpression) [HSA:4312] [KO:K01388] MMP-2 (overexpression) [HSA:4313] [KO:K01398] |
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| H00046 | Cholangiocarcinoma | Cholangiocarcinoma is a highly malignant neoplasm that carries a poor prognosis and lacks effective therapy. It is the second most common primary hepatic tumor, and it is increasing in incidence and carries ... | Cancer |
K-ras (mutation) [HSA:3845] [KO:K07827] p53 (mutation) [HSA:7157] [KO:K04451] c-Met (overexpression) [HSA:4233] [KO:K05099] ERBB2 (overexpression, amplification) [HSA:2064] [KO:K05083] p16/INK4A (mutation) [HSA:1029] [KO:K06621] COX2 (overexpression) [HSA:5743] [KO:K11987] |
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| H00048 |
Hepatocellular carcinoma Liver cancer |
... aflatoxin B1 exposure, genetic and epigenetic changes occur. The recurrent mutated genes were found to be highly enriched in multiple key driver signaling processes, including telomere maintenance, TP53, cell ... | Cancer | hsa05225 Hepatocellular carcinoma |
TGFA (overexpression) [HSA:7039] [KO:K08774] IGF2 (overexpression) [HSA:3481] [KO:K13769] IGF1R (overexpression) [HSA:3480] [KO:K05087] TERT (overexpression) [HSA:7015] [KO:K11126] FZD7 (overexpression) [HSA:8324] [KO:K02432] HGF (overexpression) [HSA:3082] [KO:K05460] MET (mutation, overexpression) [HSA:4233] [KO:K05099] MYC (amplification) [HSA:4609] [KO:K04377] RB1 (loss) [HSA:5925] [KO:K06618] CDKN2A (deletion) [HSA:1029] [KO:K06621] TGFBR2 (reduced expression) [HSA:7048] [KO:K04388] TP53 [HSA:7157] [KO:K04451] PTEN [HSA:5728] [KO:K01110] CTNNB1 [HSA:1499] [KO:K02105] AXIN1 [HSA:8312] [KO:K02157] KEAP1 [HSA:9817] [KO:K10456] NFE2L2 [HSA:4780] [KO:K05638] PIK3CA [HSA:5290] [KO:K00922] ARID1A [HSA:8289] [KO:K11653] ARID2 [HSA:196528] [KO:K11765] CASP8 [HSA:841] [KO:K04398] IGF2R [HSA:3482] [KO:K06564] |
| H00049 | Myxoid liposarcoma | ... generation of a FUS-DDIT3 hybrid protein. In 4 cases of myxoid LS, a variant chromosomal translocation has been described, t(12;22), in which DDIT3 fuses instead with EWSR1(EWS), a gene highly related to TLS. | Cancer |
FUS-DDIT3 (translocation) [HSA:1649] [KO:K04452] EWSR1-DDIT3 (translocation) [HSA:1649] [KO:K04452] |
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| H00050 | Synovial sarcoma | ... t(X; 18) have been cloned and shown to involve the fusion of the SYT gene at 18q11 to either of two highly homologous genes at Xp11 called SSX1 and SSX2. The SYT-SSX1 fusion is associated with biphasic ... | Cancer |
SYT-SSX1 (translocation) [HSA:6756] [KO:K15624] SYT-SSX2 (translocation) [HSA:6757] [KO:K15625] IGF-IR (overexpression) [HSA:3480] [KO:K05087] |
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| H00052 | Clear cell sarcoma of soft tissue | ... and there are less than 8,700 new cases per year in the United States. Clear cell sarcoma (CCS), a highly malignant tumor of deep soft tissues is perhaps the rarest of these. CCS is characterized by the ... | Cancer | EWSR1-ATF1 (translocation) [HSA:466] [KO:K09053] | |
| H00074 | Canavan disease | ... account for about 98% of the alleles of Ashkenazi Jewish patients, in which population the disease is highly prevalent(E285A and Y231X in ASPA protein). Mutations in the ASPA gene in non-Jewish patients are ... | Inherited metabolic disorder | ASPA [HSA:443] [KO:K01437] | |
| H00075 |
Refsum disease Heredopathia atactica polyneuritiformis |
... adolescence. Because the patients are unable to metabolize phytanic acid derived from exogenous sources, highly raised plasma phytanic acid (PA) level in tissues and body fluids is the hallmark of RD. Mutant ... | Inherited metabolic disorder, Peroxisomal disease |
PHYH [HSA:5264] [KO:K00477] PEX7 [HSA:5191] [KO:K13341] |
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| H00104 | Alternative complement pathway component defects | ... cleavage into C3b. If C3b binds to an appropriate surface, factor B will bind with C3b to form C3bBb, a highly efficient C3-cleaving enzyme. This overall series of successive proteolytic steps is enhanced by ... | Primary immunodeficiency |
(CFBD) CFB [HSA:629] [KO:K01335] (CFDD) CFD [HSA:1675] [KO:K01334] (CFHD) CFH [HSA:3075] [KO:K04004] (CFPD) CFP [HSA:5199] [KO:K15412] |
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| H00281 | GM1 gangliosidosis | ... activity. The enzymatic defect results in the accumulation of GM1 ganglioside in nervous tissues and a highly variable storage of keratan sulfate and glycopeptides in visceral and skeletal tissues. There are ... | Inherited metabolic disorder, Lysosomal disease | GLB1 [HSA:2720] [KO:K12309] | |
| H00313 | Multidrug-resistant Pseudomonas aeruginosa infection | ... severe invasive diseases in critically ill patients. In the 21st century, when the life expectancy of highly susceptible immunocompromised groups has been extended in most countries, P. aeruginosa plays an ... | Bacterial infectious disease | ||
| H00319 |
Pertussis Whooping cough |
Pertussis, or whooping cough, caused by the gram-negative bacillus Bordetella pertussis, is a highly contagious, acute respiratory disease of humans. Despite high vaccination rates, this illness has re-emerged ... | Bacterial infectious disease | hsa05133 Pertussis | |
| H00330 | Methicillin-resistant Staphylococcal aureus (MRSA) infection | ... originating in the hospital. Its increase in the community is of concern because CA-MRSA strains appear to be highly virulent, and colonization with CA-MRSA is often undetected in hospitalized patients, which can ... | Bacterial infectious disease | hsa05150 Staphylococcus aureus infection | |
| H00394 | Measles | Measles is a highly contagious infectious disease caused by the measles virus, a morbillivirus in the Paramyxoviridae family of -ssRNA viruses. The disease may have existed for thousands of years. The ... | Viral infectious disease | hsa05162 Measles | |
| H00398 | Influenza | ... caused by three types of influenza viruses: influenza A, B, and C. Influenza A and B viruses cause highly contagious diseases whereas influenza C virus causes only mild upper respiratory tract illness ... | Viral infectious disease | hsa05164 Influenza A | |
| H00399 |
Avian influenza Bird flu H5N1 flu |
... sporadic infections in humans, mostly as a result of direct contact with infected birds. H5N1 high pathogenicity avian influenza virus causes a rapid onset of severe viral pneumonia and is highly fatal. | Viral infectious disease | hsa05164 Influenza A | |
| H00473 | Mitochondrial complex I deficiency | Mitochondrial complex I deficiency, the most common mitochondrial disorders, is a group of highly heterogeneous conditions characterised by faulty oxidative phosphorylation (OXPHOS). Human complex I is ... | Inherited metabolic disorder, Mitochondrial disease |
(MC1DN1) NDUFS4 [HSA:4724] [KO:K03937] (MC1DN2) NDUFS8 [HSA:4728] [KO:K03941] (MC1DN3) NDUFS7 [HSA:374291] [KO:K03940] (MC1DN4) NDUFV1 [HSA:4723] [KO:K03942] (MC1DN5) NDUFS1 [HSA:4719] [KO:K03934] (MC1DN6) NDUFS2 [HSA:4720] [KO:K03935] (MC1DN7) NDUFV2 [HSA:4729] [KO:K03943] (MC1DN8) NDUFS3 [HSA:4722] [KO:K03936] (MC1DN9) NDUFS6 [HSA:4726] [KO:K03939] (MC1DN10) NDUFAF2 [HSA:91942] [KO:K18160] (MC1DN11) NDUFAF1 [HSA:51103] [KO:K18159] (MC1DN12) NDUFA1 [HSA:4694] [KO:K03945] (MC1DN13) NDUFA2 [HSA:4695] [KO:K03946] (MC1DN14) NDUFA11 [HSA:126328] [KO:K03956] (MC1DN15) NDUFAF4 [HSA:29078] [KO:K18161] (MC1DN16) NDUFAF5 [HSA:79133] [KO:K18162] (MC1DN17) NDUFAF6 [HSA:137682] [KO:K18163] (MC1DN18) NDUFAF3 [HSA:25915] [KO:K09008] (MC1DN19) FOXRED1 [HSA:55572] [KO:K18166] (MC1DN20) ACAD9 [HSA:28976] [KO:K15980] (MC1DN21) NUBPL [HSA:80224] [KO:K03593] (MC1DN22) NDUFA10 [HSA:4705] [KO:K03954] (MC1DN23) NDUFA12 [HSA:55967] [KO:K11352] (MC1DN24) NDUFB9 [HSA:4715] [KO:K03965] (MC1DN25) NDUFB3 [HSA:4709] [KO:K03959] (MC1DN26) NDUFA9 [HSA:4704] [KO:K03953] (MC1DN27) MTFMT [HSA:123263] [KO:K00604] (MC1DN28) NDUFA13 [HSA:51079] [KO:K11353] (MC1DN29) TMEM126B [HSA:55863] [KO:K18165] (MC1DN30) NDUFB11 [HSA:54539] [KO:K11351] (MC1DN31) TIMMDC1 [HSA:51300] [KO:K23505] (MC1DN32) NDUFB8 [HSA:4714] [KO:K03964] (MC1DN33) NDUFA6 [HSA:4700] [KO:K03950] (MC1DN34) NDUFAF8 [HSA:284184] [KO:K24726] (MC1DN35) NDUFB10 [HSA:4716] [KO:K03966] (MC1DN36) NDUFC2 [HSA:4718] [KO:K03968] (MC1DN37) NDUFA8 [HSA:4702] [KO:K03952] (MC1DN39) NDUFB7 [HSA:4713] [KO:K03963] ND1 [HSA:4535] [KO:K03878] ND2 [HSA:4536] [KO:K03879] ND3 [HSA:4537] [KO:K03880] ND4 [HSA:4538] [KO:K03881] ND4L [HSA:4539] [KO:K03882] ND5 [HSA:4540] [KO:K03883] ND6 [HSA:4541] [KO:K03884] |
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| H00494 |
Desbuquois syndrome Desbuquois dysplasia (DBQD) |
Desbuquois syndrome is an autosomal recessive chondrodysplasia. Highly characteristic appearance of proximal femur, called 'Swedish key', is reported in the disease. Mutations in the calcium-activated ... | Congenital malformation |
(DBQD1) CANT1 [HSA:124583] [KO:K12304] (DBQD2) XYLT1 [HSA:64131] [KO:K00771] |
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| H00568 | Myotonic dystrophy | ... receptor (INSR), resulting in their shared myotonia and insulin resistance. Affected individuals express highly heterogeneous, multisystemic symptoms including myotonia (muscle hyperexcitability), progressive ... | Nervous system disease; Musculoskeletal disease |
(DM1) DMPK [HSA:1760] [KO:K08788] (DM2) CNBP [HSA:7555] [KO:K09250] |
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| H00672 | Pseudofolliculitis barbae | ... pustules that result in keloidal scarring localized to the facial and submental regions. It is caused when highly curved hair shafts repenetrate the skin. A single nucleotide polymorphism in KRT75, which leads ... | Skin disease | KRT75 [HSA:9119] [KO:K07605] | |
| H00958 |
Congenital stromal corneal dystrophy Congenital hereditary stromal dystrophy Witschel dystrophy |
... CSCD, the morphologic abnormalities include a peculiar arrangement of tightly packed lamellae having highly aligned collagen fibrils of an unusually small diameter. Refractive error, photophobia, strabismus ... | Nervous system disease | DCN [HSA:1634] [KO:K04660] | |
| H00965 | RAPADILINO syndrome | ... an abbreviation of its hallmark features: radial hypo-/aplasia, patellae hypo-/aplasia and cleft or highly arched palate, diarrhoea and dislocated joints, little size and limb malformation, nose slender ... | Congenital malformation | RECQL4 [HSA:9401] [KO:K10730] | |
| H01013 | Adult i phenotype | Adult i phenotype is a rare autosomal recessive condition that was found to be highly associated with congenital cataract. The I and i antigens are carbohydrate structures on glycoproteins and glycolipids ... | Hematologic disease | GCNT2 [HSA:2651] [KO:K00742] | |
| H01019 | Catecholaminergic polymorphic ventricular tachycardia | Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a highly lethal form of inherited primary electrical myocardial disease characterized by exercise- and stress-related adrenergic ventricular ... | Cardiovascular disease |
(CPVT1) RYR2 [HSA:6262] [KO:K04962] (CPVT2) CASQ2 [HSA:845] [KO:K23445] (CPVT3) TECRL [HSA:253017] [KO:K24219] (CPVT4) CALM1 [HSA:801] [KO:K02183] (CPVT5) TRDN [HSA:10345] [KO:K23449] (CPVT6) CALM3 [HSA:808] [KO:K02183] |
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| H01022 | Diseases of the tricarboxylic acid cycle | ... mitochondrial complex II, which links the TCA cycle with the electron transport chain. The phenotype is highly variable and can include Leigh syndrome, leukodystrophy, cardiomyopathy and mental and motor skill ... | Inherited metabolic disorder |
(FMRD) FH [HSA:2271] [KO:K01679] (MC2DN1) SDHA [HSA:6389] [KO:K00234] (OGDHD) OGDH [HSA:4967] [KO:K00164] |
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| H01052 | Molluscum contagiosum | Molluscum contagiosum is a highly contagious poxvirus infection of the mucous membranes and skin that usually affects school-aged children. The infection is transmitted by close physical contact, fomites ... | Viral infectious disease | ||
| H01130 | Late-onset retinal degeneration | ... caused by a mutation in the CTRP5 (C1QTNF5) gene, which encodes a short-chain collagen, changing a highly conserved serine to arginine (Ser163Arg). The mutation results in abnormal high molecular weight ... | Nervous system disease | C1QTNF5 [HSA:114902] [KO:K24212] | |
| H01134 | Rhabdoid predisposition syndrome | Rhabdoid predisposition syndrome (RPS) is familial cases of highly malignant, aggressive, embryonal neoplasms manifested in early infancy and childhood that may originate from virtually any tissue, generally ... | Cancer |
(RTPS1) SMARCB1 [HSA:6598] [KO:K11648] (RTPS2) SMARCA4 [HSA:6597] [KO:K11647] |
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| H01229 | Inclusion body myopathy 3 | ... with a heterozygous missense mutation in the myosin heavy chain (MyHC) IIa gene (MYH2), changing the highly conserved and negatively charged glutamate at position 706 to the positively charged lysine (E706K) ... | Nervous system disease; Musculoskeletal disease | MYH2 [HSA:4620] [KO:K24220] | |
| H01320 | Epidemic keratoconjunctivitis | Epidemic keratoconjunctivitis (EKC) is a highly contagious and severe form of eye disease caused by human adenoviruses (HAdVs). There are two well-defined adenoviral keratoconjunctivitis clinical syndromes: ... | Viral infectious disease | ||
| H01409 | Methicillin-sensitive Staphylococcus aureus (MSSA) infection | ... (SCCmec) element which includes the mecA gene coding for resistance to the antibiotic methicillin. A highly cytotoxic and clinically virulent methicillin-sensitive strain, S. aureus strain 6850 is a well-characterized ... | Bacterial infectious disease | hsa05150 Staphylococcus aureus infection | |
| H01421 | Acute hemorrhagic conjunctivitis | Acute hemorrhagic conjunctivitis (AHC) is a highly contagious viral conjunctivitis first observed in 1969 in Ghana. Causative agents thus far identified are enterovirus 70 and coxsackievirus A24 variant ... | Viral infectious disease | ||
| H01474 |
Acquired generalized lipodystrophy Lawrence syndrome |
... disorder appears during the childhood and adolescence. Clinically, loss of subcutaneous fat occurs highly variable, exclusively at the face and extremities including legs, palms and some soles. In rare ... | Inherited metabolic disorder | ||
| H01491 |
Neuromyelitis optica Devic disease |
... located in astrocytic foot processes at the blood-brain barrier. Anti-AQP4 antibody is sensitive and highly specific serum markers of autoimmune NMO. For many decades, NMO was considered to be a subtype ... | Immune system disease | ||
| H01492 |
Systemic sclerosis Systemic scleroderma |
... diffuse or the limited variant, distinguished by the degree and the extent of cutaneous sclerosis. A highly variable clinical course exists that spans from mild and subtle findings to aggressive life-threatening ... | Immune system disease; Skin disease | ||
| H01558 | Parathyroid carcinoma | Parathyroid carcinoma (PC) is a highly aggressive endocrine tumor, with an annual incidence of less than 1 per million. Over 90% of patients present with excess parathyroid hormone (PTH), representing ... | Cancer |
CDC73/HRPT2 (mutation) [HSA:79577] [KO:K15175] CASR [HSA:846] [KO:K04612] |
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| H01563 | HIV infection | ... inhibitors, protease inhibitors (PIs), fusion inhibitors (FIs), and coreceptor inhibitors. The advent of highly active antiretroviral therapy (HAART) as the standard of care for the treatment of HIV 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] |
| H01577 | Essential tremor | ... (postural tremor). The phenotypic severity of ET is variable, as evidenced by the existence of both highly disabling and milder forms of the disease. There are three subtypes of ET, namely hereditary, sporadic ... | Nervous system disease |
(ETM1) DRD3 [HSA:1814] [KO:K04146] (ETM4) FUS [HSA:2521] [KO:K13098] (ETM5) TENM4 [HSA:26011] [KO:K24473] (ETM6) NOTCH2NLC [HSA:100996717] [KO:K24466] |
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