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Entry | Name | Description | Category | Pathway | Gene |
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H00079 | Asthma | ... adults and children. Its major characteristics include a variable degree of airflow obstruction, bronchial hyperresponsiveness, and airway inflammation. Inhaled allergens encounter antigen presenting cells ... | Immune system disease | hsa05310 Asthma |
IL4 [HSA:3565] [KO:K05430] IL4RA [HSA:3566] [KO:K05071] IL13 [HSA:3596] [KO:K05435] FCER1B [HSA:2206] [KO:K08090] TNFA [HSA:7124] [KO:K03156] ADAM33 [HSA:80332] [KO:K08616] CD14 [HSA:929] [KO:K04391] HLA-DRB1 [HSA:3123] [KO:K06752] HLA-DQB1 [HSA:3119] [KO:K06752] HLA-G [HSA:3135] [KO:K06751] ADRB2 [HSA:154] [KO:K04142] ALOX5 [HSA:240] [KO:K00461] CCL11 [HSA:6356] [KO:K16597] MUC7 [HSA:4589] [KO:K13909] PLA2G7 [HSA:7941] [KO:K01062] SCGB3A2 [HSA:117156] [KO:K25469] (ASRT1) PTGDR [HSA:5729] [KO:K04332] (ASRT2) NPSR1 [HSA:387129] [KO:K08376] (ASRT5) IRAK3 [HSA:11213] [KO:K04732] (ASRT7) CHI3L1 [HSA:1116] [KO:K17523] |
H00277 | Enterohemorrhagic Escherichia coli (EHEC) infection | Enterohemorrhagic Escherichia coli (EHEC) infection is typically contracted through consumption of contaminated food or contact with contaminated water, animal feces or infected animals. EHEC is also referred ... | Bacterial infectious disease | hsa05130 Pathogenic Escherichia coli infection | |
H00278 | Enteropathogenic Escherichia coli (EPEC) infection | Enteropathogenic Escherichia coli (EPEC) was the first pathotype of E. coli identified in the 1940s, and remains a common cause of infantile diarrhea in developing countries. EPEC and EHEC [DS:H00277] ... | Bacterial infectious disease | hsa05130 Pathogenic Escherichia coli infection | |
H00279 | Uropathogenic Escherichia coli (UPEC) infection | Uropathogenic Escherichia coli (UPEC) infection is a prevalent infectious disease with potentially severe complications. UPEC, the most common etiological agent of community-acquired urinary tract infections ... | Bacterial infectious disease | ||
H00280 | Enterotoxigenic Escherichia coli (ETEC) infection | Enterotoxigenic Escherichia coli (ETEC) infection is one of the main causes of infantile diarrhea in developing countries and an important etiologic agent for traveler's diarrhea. ETEC strains colonize ... | Bacterial infectious disease | ||
H00453 |
Branchio-oto-renal syndrome BOR syndrome |
... and Branchiootic (BO) syndrome show overlapping phenotypes of bilateral conductive hearing loss, branchial defects, and facial abnormalities. Individuals with BOR syndrome have renal anomalies as well. ... | Congenital malformation |
(BOR1/BO1) EYA1 [HSA:2138] [KO:K15616] (BOR2) SIX5 [HSA:147912] [KO:K19474] (BO3) SIX1 [HSA:6495] [KO:K15614] |
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H00461 |
Ischiocoxopodopatellar syndrome Coxopodopatellar syndrome Small patella syndrome Scott-Taor syndrome |
Ischiocoxopodopatellar syndrome, also known as small patella syndrome, is a skeletal dysplasia with anomalies of the pelvis. Ossification of the ischia and inferior pubic rami is also disrupted in patients. | Congenital malformation | TBX4 [HSA:9496] [KO:K10178] | |
H00683 | Anonychia congenita | Nonsyndromic anonychia is a condition in which the nails of the fingers and toes are congenitally absent without significant bone anomalies. The teeth and hair are normal. Mutation in RSPO4, a Wnt-signaling ... | Congenital malformation | RSPO4 [HSA:343637] [KO:K23099] | |
H00684 | Pachyonychia congenita | Pachyonychia congenita (PC) is a group of autosomal dominant skin disorders characterized by hypertrophic nail dystrophy accompanied by other features of ectodermal dysplasia, prominently painful palmoplantar ... | Congenital malformation |
(PC1) KRT16 [HSA:3868] [KO:K07604] (PC2) KRT17 [HSA:3872] [KO:K07604] (PC3) KRT6A [HSA:3853] [KO:K07605] (PC4) KRT6B [HSA:3854] [KO:K07605] |
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H00706 | Bart-Pumphrey syndrome | ... dominant disorder characterized by congenital deafness and palmoplantar hyperkeratosis. Patients also display knuckle pads and leukonychia. GJB2, the gene encoding connexin-26, is mutated in the disease. | Congenital malformation | GJB2 [HSA:2706] [KO:K07621] | |
H00780 | Atrichia with papular lesions | Atrichia with papular lesions is a rare disease characterized by early onset irreversible alopecia and papular lesions of keratin-filled cysts over the extensor areas of the body. It is caused by mutations ... | Skin disease | HR [HSA:55806] [KO:K00478] | |
H00817 | Branchiooculofacial syndrome | Branchiooculofacial syndrome (BOFS) is an autosomal dominant condition characterized by branchial cleft sinus defects associated with rotated auricles with stenotic auditory canals and conductive hearing ... | Congenital malformation | TFAP2A [HSA:7020] [KO:K09176] | |
H00832 | Core neuroacanthocytosis syndromes | ... characterized by degeneration of the basal ganglia, movement disorders, cognitive impairment, and psychiatric features. NA syndromes are caused by disease-specific genetic mutations. The mechanism by which ... | Nervous system disease |
(CHAC) VPS13A [HSA:23230] [KO:K19525] (MLS) XK [HSA:7504] [KO:K19522] (HDL2) JPH3 [HSA:57338] [KO:K19530] (PKAN) PANK2 [HSA:80025] [KO:K09680] |
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H00836 |
GLUT1 deficiency syndrome Glucose transport defect of the blood-brain barrier |
... transporter. Defects in the GLUT1 result in low cerebrospinal fluid (CSF) glucose levels termed hypoglycorrhachia. Affected individuals present with mental retardation and learning disabilities; also common are ... | Nervous system disease | GLUT1 [HSA:6513] [KO:K07299] | |
H00862 | Tourette syndrome | Tourette's syndrome (TS) is a developmental neuropsychiatric disorder characterized by chronic motor and vocal tics. Rare functional variants in the neuronal transmembrane molecule SLITRK1 have been associated ... | Mental and behavioural disorder |
SLITRK1 [HSA:114798] [KO:K25832] HDC [HSA:3067] [KO:K01590] |
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H00893 | Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis | ... cardiomyopathy with woolly hair, keratoderma, and tooth agenesis (DCWHKTA) is a recently reported autosomal dominant phenotype of Carvajal syndrome [DS:H02094] associated with leukonychia and oligodontia. | Congenital malformation | DSP [HSA:1832] [KO:K10381] | |
H00943 | TARP syndrome | ... mouse orthologue of the causative gene revealed that the gene is expressed in the parts where malformations in TARP syndrome are observed, such as in the branchial arches and in the limb/tail bud regions. | Congenital malformation | RBM10 [HSA:8241] [KO:K13094] | |
H01004 | Velocardiofacial syndrome | ... neural crest cells. Individuals with VCFS are reported to have distinctive dysmorphology, congenital heart disease, learning disabilities, and high rates of psychiatric disorder, especially schizophrenia. | Chromosomal abnormality |
TBX1 [HSA:6899] [KO:K10175] DGCR2 [HSA:9993] [KO:K27941] DGCR6 [HSA:8214] DGCR8 [HSA:54487] [KO:K18419] ESS2 [HSA:8220] [KO:K13118] |
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H01012 | Oculo-auricular syndrome | ... cleft ear lobule. Previously described ocular abnormalities include bilateral microcornea, posterior synechiae, cataract, chorioretinal colobomas, and rod-cone dystrophy. Mutation in the human Hmx1 ortholog ... | Congenital malformation | HMX1 [HSA:3166] [KO:K09349] | |
H01043 |
Onchocerciasis River blindness Robles disease |
... pruritus, lichenification, and depigmentation, as well as ocular manifestations. Onchocerca volvulus contain Wolbachia bacteria as mutualistic symbionts, and these Wolbachia affects the nematode survival. | Parasitic infectious disease | ||
H01049 | Gordonia bronchialis infection | ... recognized as causing human disease in immunocompromised and immunocompetent patients. Gordonia bronchialis has been isolated from cases of bacteremia, pleural infection, intraventricular shunt, sternal ... | Bacterial infectious disease | ||
H01131 |
Hereditary neuralgic amyotrophy Hereditary brachial plexus neuropathy |
... amyotrophy (HNA) is an autosomal dominant peripheral neuropathy characterized by recurrent painful brachial plexus neuropathies with weakness and atrophy of arm muscles and sensory loss. HNA is triggered ... | Nervous system disease | SEPT9 [HSA:10801] [KO:K16938] | |
H01140 |
Sennetsu neorickettsiosis Sennetsu ehrlichiosis |
Neorickettsia sennetsu, an obligate intracellular bacteria closely related to Ehrlichia and Anaplasma, causes an infectious mononucleosis-like disease. It is very likely linked to consumption of raw fish ... | Bacterial infectious disease | ||
H01141 | Human monocytic ehrlichiosis | Human monocytic ehrlichiosis is a tick-borne infectious disease caused by Ehrlichia chaffeensis that infects mononuclear phagocytic cells. The bacterium is maintained in nature involving many vertebrate ... | Bacterial infectious disease | ||
H01142 | Ehrlichia ewingii infection | Human ehrlichiosis is a recently recognized tick-borne infection. Ehrlichia ewingii has been identified as a cause of human disease in addition to formerly known pathogenic Ehrlichia species. | Bacterial infectious disease | ||
H01158 | Alopecia universalis | ... universalis is the most severe form of alopecia areata, characterized by generalized scalp and body atrichia with papular lesions. Mutations in the gene HR coding for the Hairless protein are associated with ... | Skin disease | HR [HSA:55806] [KO:K00478] | |
H01176 | Uncomplicated urinary tract infection | ... gram-positive uropathogen of uncomplicated UTI, a restricted group of gram-negative bacteria, including Escherichia coli, Proteus mirabilis, and Klebsiella spp. is often observed to cause uncomplicated UTI. | Bacterial infectious disease | ||
H01191 | Asthma with nasal polyps and aspirin intolerance | ... asthmatic attacks. This clinical syndrome is characterized by eosinophilic inflammation of nasal and bronchial tissue, often associated with nasal polyps. It has been reported that genetic variations in TBX21 ... | Immune system disease |
TBX21 [HSA:30009] [KO:K10166] PTGER2 [HSA:5732] [KO:K04259] |
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H01201 |
Jensen syndrome Opticoacoustic nerve atrophy |
... X-linked deafness syndromes associated with progressive visual deterioration, dystonia, dementia, and psychiatric abnormalities. Causative mutations were identified within the deafness-dystonia peptide (TIMM8a) ... | Inherited metabolic disorder, Mitochondrial disease | TIMM8A [HSA:1678] [KO:K17780] | |
H01249 | Ethylmalonic encephalopathy | ... caused by mutations in the ETHE1 gene. EE is characterized by early onset of neurological degeneration, chronic diarrhea, recurrent petechiae, orthostatic acrocyanosis, and death in the first years of life. | Inherited metabolic disorder | ETHE1 [HSA:23474] [KO:K17725] | |
H01307 | Nonsyndromic congenital nail disorder | ... the RSPO4 and FZD6, components of the Wnt pathway, cause hypoplastic nail disorders. Hereditary leukonychia is caused by mutations in PLCD1. Defects in COL7A1 can cause heterogeneous clinical phenotypes extending ... | Skin disease |
(NDNC1) FZD6 [HSA:8323] [KO:K02376] (NDNC3) PLCD1 [HSA:5333] [KO:K05857] (NDNC4) RSPO4 [HSA:343637] [KO:K23099] (NDNC8) COL7A1 [HSA:1294] [KO:K16628] |
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H01311 | Enteroinvasive Escherichia coli (EIEC) infection | Enteroinvasive Escherichia coli (EIEC) infection is common in developing countries and comparatively rare in developed countries. EIEC invades intestinal epithelial cells, causing necrosis, ulceration ... | Bacterial infectious disease | ||
H01312 | Enteroaggregative Escherichia coli (EAEC) infection | Enteroaggregative Escherichia coli (EAEC or EAggEC) infection is a cause of traveler's diarrhea and persistent watery diarrhea in young children and patients infected with HIV. EAEC adheres to the small ... | Bacterial infectious disease | ||
H01313 |
Escherichia coli meningitis Neonatal meningitis-associated Escherichia coli (NMEC) infection |
Escherichia coli meningitis is a bacterial meningitis caused by Escherichia coli, and is common in the newborn within the first month of life (neonatal meningitis). Neonatal meningitis-associated Escherichia ... | Bacterial infectious disease | ||
H01339 | Asymptomatic bacteriuria | ... attracting attention as a model to study mechanisms underlying the development of commensalism. Escherichia coli strain 83972 was isolated from the urine of a Swedish patient who was colonized for at least ... | Bacterial infectious disease | ||
H01433 | Budd-Chiari syndrome | Budd-Chiari syndrome (BDCHS) is a heterogeneous group of disorders characterized by hepatic venous outflow obstruction at the hepatic veins or inferior vena cava. Clinically, the disease is characterized ... | Digestive system disease |
F5 [HSA:2153] [KO:K03902] JAK2 [HSA:3717] [KO:K04447] |
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H01441 | Pseudomonas aeruginosa infection | ... cause of nosocomial bloodstream infections, ranking third among gram-negative bacteria, after Escherichia coli and Klebsiella species. Intrinsic resistance has been traditionally attributed to the low permeability ... | Bacterial infectious disease | ||
H01447 | Body dysmorphic disorder | Body dysmorphic disorder (BDD) is a psychiatric disorder in which individuals are preoccupied with imagined defects in their appearance, which are not noticeable or appear slight to others. It is characterized ... | Mental and behavioural disorder | ||
H01449 |
Excoriation disorder Skin picking disorder |
... stress, anxiety, boredom, and feeling tired or angry have all been reported as triggers. Co-occurring psychiatric conditions are common in this disease. The most commonly reported comorbid conditions are trichotillomania ... | Mental and behavioural disorder | ||
H01450 | Obsessive-compulsive disorder | Obsessive-compulsive disorder (OCD) is a psychiatric disorder characterized by recurrent, intrusive and disturbing thoughts as well as by repetitive stereotypic behaviors. OCD is a complex disorder and ... | Mental and behavioural disorder |
HTR2A [HSA:3356] [KO:K04157] SLC6A4 [HSA:6532] [KO:K05037] |
[ KEGG | DISEASE | DRUG | MEDICUS ] |