C-cell hyperplasia

description: Neoplastic or reactive proliferation of the C-cells in the thyroid gland. The neoplastic C-cell hyperplasia is associated with familial medullary thyroid gland carcinoma and multiple endocrine neoplasia type II and IIB. Morphologically, it is characterized by the presence of clusters of intrafollicular C-cells with atypical cytologic features. The reactive C-cell hyperplasia is also known as physiological or secondary C-cell hyperplasia and it is associated with conditions that cause hypercalcemia (e.g., hyperparathyroidism).


ETHYL OLEATE

A long-chain fatty acid ethyl ester resulting from the formal condensation of the carboxy group of  oleic acid  with the hydroxy group of ethanol.


chondrodysplasia

category: biolink:Disease biolink:DiseaseOrPhenotypicFeature biolink:BiologicalEntity biolink:ThingWithTaxon biolink:NamedThing


viral meningitis

description: Inflammation of the membranes surrounding the brain and spinal cord due to a viral infection.


name: LMTK3_HUMAN Serine/threonine-protein kinase LMTK3 (sprot)

description: A serine/threonine-protein kinase LMTK3 that is encoded in the genome of human.


name: STRAA_HUMAN STE20-related kinase adapter protein alpha (sprot)

description: A STE20-related kinase adapter protein alpha that is encoded in the genome of human.


cerebral palsy

description: A group of disorders affecting the development of movement and posture, often accompanied by disturbances of sensation, perception, cognition, and behavior. It results from damage to the fetal or infant brain.


name: PLK4_HUMAN Serine/threonine-protein kinase PLK4 (sprot)

description: A serine/threonine-protein kinase PLK4 that is encoded in the genome of human.


sn-glycerol 3-phosphate(2-)

An organophosphate oxoanion that is the dianion of sn-glycerol 3-phosphate arising from deprotonation of both phosphate OH groups.


UPK1B_HUMAN Uroplakin-1b (sprot)

A uroplakin-1b that is encoded in the genome of human.


name: T2FB_HUMAN General transcription factor IIF subunit 2 (sprot)

description: A general transcription factor IIF subunit 2 that is encoded in the genome of human.


name: GPAT3_HUMAN Glycerol-3-phosphate acyltransferase 3 (sprot)

description: A glycerol-3-phosphate acyltransferase 3 that is encoded in the genome of human.


name: WDR81_HUMAN WD repeat-containing protein 81 (sprot)

description: A WD repeat-containing protein 81 that is encoded in the genome of human.


PCS1N_HUMAN ProSAAS (sprot)

A ProSAAS that is encoded in the genome of human.


dihydrolipoic acid

A  thio-fatty acid that is reduced form of lipoic acid. A potent antioxidant shown to directly destroy superoxide, hydroperoxy and hydroxyl radicals; also has neuroprotective and anti-tumour effects.


trichinellosis

description: A zoonotic parasitic disease caused by the consumption of raw or undercooked meat (pork and wild game) infected by nematodes of the genus Trichinella and that is characterized by an enteral (intestinal) phase, that can be asymptomatic or that can manifests with diarrhea, nausea, vomiting and abdominal pain, and a parenteral (muscular) phase, manifesting with fever, periorbital edema, muscle swelling and pain, weakness, and in some cases, skin rash and peripheral edema. Rarely, potentially fatal cardiac (i.e. myocarditis), pulmonary (i.e. pneumonitis, respiratory failure), and nervous system (i.e. meningoencephalitis) complications may occur.


FABP6_HUMAN Gastrotropin (sprot)

A gastrotropin that is encoded in the genome of human.


P2Y12_HUMAN P2Y purinoceptor 12 (sprot)

A P2Y purinoceptor 12 that is encoded in the genome of human.


naphthoquinone

A polycyclic aromatic ketone metabolite of naphthalene.


name: KCNKA_HUMAN Potassium channel subfamily K member 10 (sprot)

description: A potassium channel subfamily K member 10 that is encoded in the genome of human.


deep seated dermatophytosis

description: A deep folliculitis due to a cutaneous dermatophyte infection, usually on the legs. It is most commonly caused by trichophyton rubrum and is characterized by the formation of spongy granulomas which persist for three to four months and leaves deep scars.


name: CRFM7_HUMAN CHRNA7-FAM7A fusion protein (sprot)

description: A CHRNA7-FAM7A fusion protein that is encoded in the genome of human.


name: TCPB_HUMAN T-complex protein 1 subunit beta (sprot)

description: A T-complex protein 1 subunit beta that is encoded in the genome of human.


name: IDHP_HUMAN Isocitrate dehydrogenase [NADP], mitochondrial (sprot)

description: An isocitrate dehydrogenase [NADP], mitochondrial that is encoded in the genome of human.


CD302_HUMAN CD302 antigen (sprot)

A CD302 molecule that is encoded in the genome of human.


name: SRPK2_HUMAN SRSF protein kinase 2 (sprot)

description: An SRSF protein kinase 2 that is encoded in the genome of human.


BEX2_HUMAN Protein BEX2 (sprot)

A protein BEX2 that is encoded in the genome of human.


name: DDAH2_HUMAN Putative hydrolase DDAH2 (sprot)

description: A putative hydrolase DDAH2 that is encoded in the genome of human.


name: VPS16_HUMAN Vacuolar protein sorting-associated protein 16 homolog (sprot)

description: A vacuolar protein sorting-associated protein 16 that is encoded in the genome of human.


lymph node disorder

description: Any disorder of the lymph nodes.


Left hemiplegia

category: biolink:PhenotypicFeature biolink:DiseaseOrPhenotypicFeature biolink:BiologicalEntity biolink:ThingWithTaxon biolink:NamedThing


neoplasm of mediastinum

description: A neoplasm (disease) that involves the mediastinum.


A member of the class of anthrapyrazoles that is anthra[1,9-cd]pyrazole substituted at position 6 by an oxo group. An inhibitor of c-Jun N-terminal kinase.


name: SPB1_HUMAN pre-rRNA 2'-O-ribose RNA methyltransferase FTSJ3 (sprot)

description: An rRNA methyltransferase 3 that is encoded in the genome of human.


name: COG4_HUMAN Conserved oligomeric Golgi complex subunit 4 (sprot)

description: A conserved oligomeric Golgi complex subunit 4 that is encoded in the genome of human.


name: MYPC3_HUMAN Myosin-binding protein C, cardiac-type (sprot)

description: A myosin-binding protein C, cardiac-type that is encoded in the genome of human.


name: MC3R_HUMAN Melanocortin receptor 3 (sprot)

description: A melanocortin receptor 3 that is encoded in the genome of human.


SGCB_HUMAN Beta-sarcoglycan (sprot)

A beta-sarcoglycan that is encoded in the genome of human.


RODUCITABINE

A triol that is (1S,2R)-4-fluoro-3-(hydroxymethyl)cyclopent-3-ene-1,2-diol which is substituted by a 4-amino-2-oxopyrimidin-1(2H)-yl group at position 5. It is a cytidine analog which exhibits anticancer activity in several cancers, including gemcitabine-resistant tumours.


name: UCK2_HUMAN Uridine-cytidine kinase 2 (sprot)

description: A uridine-cytidine kinase 2 that is encoded in the genome of human.


hyaluronate

A carbohydrate acid derivative anion obtained by deprotonation of the carboxy groups of hyaluronic acid; major species at pH 7.3.


name: RPB9_HUMAN DNA-directed RNA polymerase II subunit RPB9 (sprot)

description: A DNA-directed RNA polymerase II subunit RPB9 that is encoded in the genome of human.


CPLX1_HUMAN Complexin-1 (sprot)

A complexin-1 that is encoded in the genome of human.


ticarcillin

A penicillin compound having a 6beta-[(2R)-2-carboxy-2-thiophen-3-ylacetyl]amino side-group.


cervical dystonia

description: Cervical dystonia is a neurological condition characterized by excessive pulling of the muscles of the neck and shoulder resulting in abnormal movements of the head (dystonia).Most commonly, the head turns to one side or the other.Tilting sideways, or to the back or front may also occur.The turning or tilting movements may be accompanied by shaking movement (tremor) and/or soreness of the muscles of the neck and shoulders.Cervical dystonia can occur at any age, but most cases occur in middle age. It often begins slowly and usually reaches a plateau over a few months or years. The cause of cervical dystonia is often unknown. In some cases there is a family history. Several genes have been associated with cervical dystonia, including GNAL, THAP1, CIZ1, and ANO3. Other cases may be linked to an underlying disease (e.g. Parkinson disease), neck trauma, or certain medications. Treatment may include local injections of botulinum toxin, pain medications, benzodiazepines (anti-anxiety medications), anticholinergics,physical therapy, or surgery.


name: DHX58_HUMAN ATP-dependent RNA helicase DHX58 (sprot)

description: An ATP-dependent RNA helicase DHX58 that is encoded in the genome of human.


name: PKN3_HUMAN Serine/threonine-protein kinase N3 (sprot)

description: A serine/threonine-protein kinase N3 that is encoded in the genome of human.


name: B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2)

description: A precursor lymphoid neoplasm which is composed of B-lymphoblasts and carries a translocation between the BCR gene on chromosome 22 and the ABL1 gene on chromosome 9. It results in the production of the p190 kd or p210 kd fusion protein. It has an unfavorable clinical outcome.


vincristine

A vinca alkaloid with formula C46H56N4O10 found in the Madagascar periwinkle, Catharanthus roseus. It is used (commonly as the corresponding sulfate salt)as a chemotherapy drug for the treatment of leukaemia, lymphoma, myeloma, breast cancer and head and neck cancer.


name: hereditary sensory and autonomic neuropathy type 4

description: Hereditary sensory and autonomic neuropathy, type 4 (HSAN4) is an inherited disorder characterized by anhidrosis, insensitivity to pain, self-mutilating behavior and episodes of fever.


Granulomatosis

description: A granulomatous inflammation leading to multiple granuloma formation, which is a specific type of inflammation. A granuloma is a focal compact collection of inflammatory cells, mononuclear cells predominating, usually as a result of the persistence of a non-degradable product and of active cell mediated hypersensitivity.


name: PPT2_HUMAN Lysosomal thioesterase PPT2 (sprot)

description: A lysosomal thioesterase PPT2 that is encoded in the genome of human.


name: Avermectin B1, 4''-(acetylamino)-4''-deoxy-, (4''R)-


name: AT1B1_HUMAN Sodium/potassium-transporting ATPase subunit beta-1 (sprot)

description: A sodium/potassium-transporting ATPase subunit beta-1 that is encoded in the genome of human.


flavin mononucleotide

A flavin mononucleotide that is riboflavin (vitamin B2) in which the primary hydroxy group has been converted to its dihydrogen phosphate ester.


nitisinone

A cyclohexanone that is cyclohexane-1,3-dione substituted at position 2 by a 2-nitro-4-(trifluoromethyl)benzoyl group. It is used in the treatment of hereditary tyrosinemia type 1.


name: ADRO_HUMAN NADPH:adrenodoxin oxidoreductase, mitochondrial (sprot)

description: An NADPH:adrenodoxin oxidoreductase, mitochondrial that is encoded in the genome of human.


name: AGRB3_HUMAN Adhesion G protein-coupled receptor B3 (sprot)

description: An adhesion G protein-coupled receptor B3 that is encoded in the genome of human.


TEREPHTHALIC ACID

A benzenedicarboxylic acid carrying carboxy groups at positions 1 and 4. One of three possible isomers of benzenedicarboxylic acid, the others being phthalic and isophthalic acids.


cefsulodin

A pyridinium-substituted semi-synthetic, broad-spectrum, cephalosporin antibiotic.


superficial siderosis

description: Superficial siderosis is a rare neurologic disease characterized by progressive sensorineural hearing loss, cerebellar ataxia, pyramidal signs, and neuroimaging findings revealing hemosiderin deposits in the spinal and cranial leptomeninges and subpial layer. The disease progresses slowly and patients may present with mild cognitive impairment, nystagmus, dysmetria, spasticity, dysdiadochokinesia, dysarthria, hyperreflexia, and Babinski signs. Additional features reported include dementia, urinary incontinence, anosmia, ageusia, and anisocoria.


name: OSBP2_HUMAN Oxysterol-binding protein 2 (sprot)

description: An oxysterol-binding protein 2 that is encoded in the genome of human.


name: ROA1_HUMAN Heterogeneous nuclear ribonucleoprotein A1 (sprot)

description: A heterogeneous nuclear ribonucleoprotein A1 that is encoded in the genome of human.


name: RN115_HUMAN E3 ubiquitin-protein ligase RNF115 (sprot)

description: An E3 ubiquitin-protein ligase RNF115 that is encoded in the genome of human.


renal adenoma

description: An adenoma arising from the renal cortex.


name: BAG5_HUMAN BAG family molecular chaperone regulator 5 (sprot)

description: A BAG family molecular chaperone regulator 5 that is encoded in the genome of human.


LIPA1_HUMAN Liprin-alpha-1 (sprot)

A liprin-alpha-1 that is encoded in the genome of human.


alpha-CYANO-4-HYDROXYCINNAMIC ACID

A monohydroxycinnamic acid that is 4-hydroxycinnamic acid in which the hydrogen alpha- to the carboxy group is replaced by a cyano group. It is used as a matrix in matrix-assisted laser desorption/ionization (MALDI) mass spectrometry for the analysis of peptides and oligonucleotides.


biliary atresia

description: A rare, biliary tract disease characterized by progressive obliterative cholangiopathy of the intra- and extrahepatic bile ducts, occurring in the embryonic/ perinatal period, leading to severe and persistent neonatal jaundice and acholic stool.


name: CMBL_HUMAN Carboxymethylenebutenolidase homolog (sprot)

description: A carboxymethylenebutenolidase that is encoded in the genome of human.


bacterial endocarditis

description: Endocarditis that is caused by an infection with a bacterial agent.


SORAPHEN A

A macrolide and an agent highly effective against plant-pathogenic fungi. It was extensively researched for agricultural use until it was discovered to be a teratogen.


MYRIP_HUMAN Rab effector MyRIP (sprot)

A Rab effector MyRIP that is encoded in the genome of human.


purmorphamine

A member of the class of purines that is purine substituted at C-2 by a 1-naphthyloxy group, at C-4 by a 4-morpholinophenylamino group, and at N-9 by a cyclohexyl group.


name: FCERG_HUMAN High affinity immunoglobulin epsilon receptor subunit gamma (sprot)

description: A high affinity immunoglobulin epsilon receptor subunit gamma that is encoded in the genome of human.


name: NEK11_HUMAN Serine/threonine-protein kinase Nek11 (sprot)

description: A serine/threonine-protein kinase Nek11 that is encoded in the genome of human.


A hydrochloride salt prepared from equimolar amounts of PJ34 and hydrochloric acid.


eosinophilic colitis

description: Inflammation of the colon that is characterized by eosinic infiltration.


gallamine

A tertiary amine non-depolarising muscle relaxant whose structure comprises a core benzene molecule substituted at each of C-1, C-2 and C-3 by an N,N-diethyl-2-(ethylamino)ethoxy group.


hairy cell leukemia

description: Hairy cell leukemia (HCL) is a rare type of leukemia in which abnormal B-lymphocytes are present in the bone marrow, spleen and peripheral blood. It is a slowly progressive chronic lymphocytic leukemia (CLL). The name comes from the abnormally shaped lymphocytes with hair-like projections.


46,XY disorder of sex development

description: Differences of sex development in individuals with 46,XY karyotype.


astemizole

A piperidine compound having a 2-(4-methoxyphenyl)ethyl group at the 1-position and an N-[(4-fluorobenzyl)benzimidazol-2-yl]amino group at the 4-position.


UDP-glucose

The alpha-anomer of UDP-alpha-D-glucose. It is used in nucleotide sugars metabolism.


name: TRI46_HUMAN Tripartite motif-containing protein 46 (sprot)

description: A tripartite motif-containing protein 46 that is encoded in the genome of human.


name: TBCE_HUMAN Tubulin-specific chaperone E (sprot)

description: A tubulin-specific chaperone E that is encoded in the genome of human.


name: MARCS_HUMAN Myristoylated alanine-rich C-kinase substrate (sprot)

description: A myristoylated alanine-rich C-kinase substrate that is encoded in the genome of human.


SYNP2_HUMAN Synaptopodin-2 (sprot)

A synaptopodin-2 that is encoded in the genome of human.


name: INSL5_HUMAN Insulin-like peptide INSL5 (sprot)

description: An insulin-like peptide INSL5 that is encoded in the genome of human.


name: RL3R2_HUMAN Relaxin-3 receptor 2 (sprot)

description: A relaxin-3 receptor 2 that is encoded in the genome of human.


name: MSRB3_HUMAN Methionine-R-sulfoxide reductase B3 (sprot)

description: A methionine-R-sulfoxide reductase B3, mitochondrial that is encoded in the genome of human.


name: STK39_HUMAN STE20/SPS1-related proline-alanine-rich protein kinase (sprot)

description: A STE20/SPS1-related proline-alanine-rich protein kinase that is encoded in the genome of human.


NOE1_HUMAN Noelin (sprot)

A noelin that is encoded in the genome of human.


name: PRRT1_HUMAN Proline-rich transmembrane protein 1 (sprot)

description: A proline-rich transmembrane protein 1 that is encoded in the genome of human.


name: congenital lipoid adrenal hyperplasia due to STAR deficency

description: Congenital lipoid adrenal hyperplasia (CLAH) is one of the most severe forms of congenital adrenal hyperplasia (CAH) characterized by severe adrenal insufficiency and sex reversal in males.


immunotactoid glomerulopathy

description: Immunotactoid glomerulopathy (ITG) is a very rare condition characterized by glomerular accumulation of microtubules in the mesangium and the glomerular basement membrane, that mainly presents with proteinuria, micro-hematuria, nephrotic syndrome, renal insufficiency and hematologic malignancy. ITG and non-amyloid fibrillary glomerulopathy (non-amyloid FGP) are often grouped together as pathogenetically related diseases.


name: SPNS2_HUMAN Sphingosine-1-phosphate transporter SPNS2 (sprot)

description: A sphingosine-1-phosphate transporter SPNS2 that is encoded in the genome of human.


name: PGAM4_HUMAN Probable phosphoglycerate mutase 4 (sprot)

description: A probable phosphoglycerate mutase 4 that is encoded in the genome of human.


EFNA3_HUMAN Ephrin-A3 (sprot)

An ephrin-A3 that is encoded in the genome of human.


gallbladder disorder

description: A disease involving the gall bladder.


acrolein

An enal that is prop-2-ene with an oxo group at position 1.


name: PKHA5_HUMAN Pleckstrin homology domain-containing family A member 5 (sprot)

description: A pleckstrin homology domain-containing family A member 5 that is encoded in the genome of human.


XANTHURENATE

A quinolinemonocarboxylic acid that is quinoline-2-carboxylic acid substituted by hydroxy groups at C-4 and C-8.


name: PPR29_HUMAN Protein phosphatase 1 regulatory subunit 29 (sprot)

description: A protein phosphatase 1 regulatory subunit 29 that is encoded in the genome of human.


name: LPP_HUMAN Lipoma-preferred partner (sprot)

description: A lipoma-preferred partner that is encoded in the genome of human.


acute necrotizing pancreatitis

description: An acute pancreatitis that is characterized by one or more areas of necrosis in the pancreas with varying degree of involvement of the surrounding tissues or organ systems.


finafloxacin

A quinolone that is 4-oxo-1,4-dihydroquinoline-3-carboxylic acid which is substituted at positions 1, 6, 7 and 8 by cyclopropyl, fluoro, hexahydropyrrolo[3,4-b][1,4]oxazin-6-yl and cyano groups respectively; an antibiotic used for treatment of acute otitis externa (swimmer's ear) caused by the bacteria Pseudomonas aeruginosa and Staphylococcus aureus.


tularemia

description: Tularemia is an infection caused by the bacterium Francisella tularensis. It is more common in rodents and rabbits but has been found in other animals including domestic cats, sheep, birds, and hamsters. Humans can become infected in several different ways: by handling infected animals, through tick or deer fly bites, by drinking contaminated water, or by inhaling contaminated dust or aerosols. Person-to-person transmission has not been reported. The type of tularemia and the particular signs and symptoms vary depending on how the bacteria enter the body. However, fever is seen in most cases. Though tularemia can be life-threatening, most infections can be treated with antibiotics.


N,N'-DIPHENYL-P-PHENYLENEDIAMINE

An N-substituted diamine that is 1,4-phenylenediamine in which one hydrogen from each amino group is replaced by a phenyl group.


name: PPIF_HUMAN Peptidyl-prolyl cis-trans isomerase F, mitochondrial (sprot)

description: A peptidyl-prolyl cis-trans isomerase F, mitochondrial that is encoded in the genome of human.


name: SPAT6_HUMAN Spermatogenesis-associated protein 6 (sprot)

description: A spermatogenesis-associated protein 6 that is encoded in the genome of human.


name: CAVN4_HUMAN Caveolae-associated protein 4 (sprot)

description: A caveolae-associated protein 4 that is encoded in the genome of human.


name: KITM_HUMAN Thymidine kinase 2, mitochondrial (sprot)

description: A thymidine kinase 2, mitochondrial that is encoded in the genome of human.


name: AP5B1_HUMAN AP-5 complex subunit beta-1 (sprot)

description: An AP-5 complex subunit beta-1 that is encoded in the genome of human.


name: NACHO_HUMAN Novel acetylcholine receptor chaperone (sprot)

description: A novel acetylcholine receptor chaperone that is encoded in the genome of human.


name: Methicillin-resistant Staphylococcus aureus infection

description: Infection with staphylococcus aureus resistant to the antibiotic methicillin (MRSA). MRSA can infect any individual but is more common among hospitalized patients, and can also occur as an opportunistic infection.


Bladder pain

description: An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the urinary bladder. Bladder pain may be more pronounced with a full bladder and relieved upon urination, but this is not always the case.


name: CEAM8_HUMAN Carcinoembryonic antigen-related cell adhesion molecule 8 (sprot)

description: A carcinoembryonic antigen-related cell adhesion molecule 8 that is encoded in the genome of human.


synucleinopathy

description: A neurodegenerative disease that is characterized by the abnormal accumulation of aggregates of alpha-synuclein protein in neurons, nerve fibers or glial cells. [url:http://en.wikipedia.org/wiki/Synucleinopathies ]


congenital glaucoma

description: A developmental glaucoma that results from the abnormal development of the aqueous drainage structure, characterized by an elevated intra-ocular pressure, enlargement of globe (buphthalmos), corneal edema and optic nerve cupping, and presenting clinically with the characteristic triad of epiphora, photophobia and blepharospasm.


name: NECA3_HUMAN N-terminal EF-hand calcium-binding protein 3 (sprot)

description: An N-terminal EF-hand calcium-binding protein 3 that is encoded in the genome of human.


cyclohexylamine

A primary aliphatic amine consisting of cyclohexane carrying an amino substituent.


name: PAK5_HUMAN Serine/threonine-protein kinase PAK 5 (sprot)

description: A serine/threonine-protein kinase PAK 5 that is encoded in the genome of human.


cutaneous leukocytoclastic angiitis

description: Cutaneous leukocytoclastic angiitis is a small-vessel vasculitis presenting with palpable purpura and urticarial lesions which predate the purpuric lesions most frequently observed on the legs. Systemic symptoms including fever, cough, hemoptysis, sinusitis, arthralgia, arthritis, myalgia, abdominal pain, diarrhea, hematochezia, paresthesia, weakness, and hematuria may be observed. Skin biopsy reveals exudates rich in neutrophils, endothelial damage, fibrin deposition, and leukocytoclasis in postcapillary venules of small vessels. Cutaneous leukocytoclastic angiitis can be idiopathic (in up to 50% of cases) or secondary to infections, medications (such as antituberculosis medication), collagen vascular diseases, or neoplasms.


tauopathy

description: Neurodegenerative disorders involving deposition of abnormal tau protein isoforms (tau proteins) in neurons and glial cells in the brain. Pathological aggregations of tau proteins are associated with mutation of the tau gene on chromosome 17 in patients with alzheimer disease; dementia; parkinsonian disorders; progressive supranuclear palsy (supranuclear palsy, progressive); and corticobasal degeneration.


name: SPDEF_HUMAN SAM pointed domain-containing Ets transcription factor (sprot)

description: A SAM pointed domain-containing Ets transcription factor that is encoded in the genome of human.


digital dermatitis in cattle

description: Highly contagious infectious dermatitis with lesions near the interdigital spaces usually in cattle. It causes discomfort and often severe lameness (lameness, animal). Lesions can be either erosive or proliferative and wart-like with papillary growths and hypertrophied hairs. dichelobacter nodosus and treponema are the most commonly associated causative agents for this mixed bacterial infection disease.


name: MPP9_HUMAN M-phase phosphoprotein 9 (sprot)

description: An M-phase phosphoprotein 9 that is encoded in the genome of human.


name: DOCK3_HUMAN Dedicator of cytokinesis protein 3 (sprot)

description: A dedicator of cytokinesis protein 3 that is encoded in the genome of human.


name: AA2BR_HUMAN Adenosine receptor A2b (sprot)

description: An adenosine receptor A2b that is encoded in the genome of human.


name: PSRC1_HUMAN Proline/serine-rich coiled-coil protein 1 (sprot)

description: A proline/serine-rich coiled-coil protein 1 that is encoded in the genome of human.


nafcillin

A penicillin in which the substituent at position 6 of the penam ring is a (2-ethoxy-1-naphthoyl)amino group.


name: TNNC1_HUMAN Troponin C, slow skeletal and cardiac muscles (sprot)

description: A troponin C, slow skeletal and cardiac muscles that is encoded in the genome of human.


LIPB1_HUMAN Liprin-beta-1 (sprot)

A liprin-beta-1 that is encoded in the genome of human.


name: GNAI3_HUMAN Guanine nucleotide-binding protein G(i) subunit alpha-3 (sprot)

description: A guanine nucleotide-binding protein G(i) subunit alpha-3 that is encoded in the genome of human.


BEX1_HUMAN Protein BEX1 (sprot)

A protein BEX1 that is encoded in the genome of human.


name: malignant adrenal gland pheochromocytoma

description: A pheochromocytoma that metastasizes to other anatomic sites. Common sites of metastasis include lymph nodes, bones, liver, and lung. Morphologic features associated with malignant pheochromocytomas include: atypical mitotic figures, capsular and vascular invasion, tumor cell necrosis, and high mitotic activity.


name: VATC1_HUMAN V-type proton ATPase subunit C 1 (sprot)

description: A V-type proton ATPase subunit C 1 that is encoded in the genome of human.


skin infection

description: An inflammatory process affecting the skin, caused by bacteria, viruses, parasites, or fungi. Examples of bacterial infection include carbuncles, furuncles, impetigo, erysipelas, and abscesses. Examples of viral infection include shingles, warts, molluscum contagiosum, and pityriasis rosea. Examples of parasitic infection include scabies and lice. Examples of fungal infection include athlete's foot, yeast infection, and ringworm.


GET3_HUMAN ATPase GET3 (sprot)

An ATPase GET3 that is encoded in the genome of human.


triphenylphosphine

A member of the class of  tertiary phosphines that is phosphane in which the three hydrogens are replaced by phenyl groups.


name: OSBP1_HUMAN Oxysterol-binding protein 1 (sprot)

description: An oxysterol-binding protein 1 that is encoded in the genome of human.


name: STAR3_HUMAN StAR-related lipid transfer protein 3 (sprot)

description: A StAR-related lipid transfer protein 3 that is encoded in the genome of human.


rheumatic fever

description: A post-bacterial multisystem inflammatory disease occurring as a post-infectious, nonsuppurative sequela of untreated streptococcus pyogenes (Group A streptococcus [GAS]) pharyngitis, and mainly occurs in individuals aged 5 to 15 years. The most common presenting signs are fever, migratory polyarthritis and carditis.


name: NDE1_HUMAN Nuclear distribution protein nudE homolog 1 (sprot)

description: A nuclear distribution protein nudE homolog 1 that is encoded in the genome of human.


amoxapine

A dibenzooxazepine compound having a chloro substituent at the 2-position and a piperazin-1-yl group at the 11-position.


name: SHAN1_HUMAN SH3 and multiple ankyrin repeat domains protein 1 (sprot)

description: An SH3 and multiple ankyrin repeat domains protein 1 that is encoded in the genome of human.


name: MOTSC_HUMAN Mitochondrial-derived peptide MOTS-c (sprot)

description: A protein that is a translation product of the MT-RNR1 gene in human.


name: PCGF2_HUMAN Polycomb group RING finger protein 2 (sprot)

description: A Polycomb group RING finger protein 2 that is encoded in the genome of human.


name: WDHD1_HUMAN WD repeat and HMG-box DNA-binding protein 1 (sprot)

description: A WD repeat and HMG-box DNA-binding protein 1 that is encoded in the genome of human.


metastatic carcinoma

description: A carcinoma which has spread from the original site of growth to another anatomic site.


Inguinal lymphadenopathy

description: Enlarged lymph node located in the inguinal region (groin).


name: SGK2_HUMAN Serine/threonine-protein kinase Sgk2 (sprot)

description: A serine/threonine-protein kinase Sgk2 that is encoded in the genome of human.


name: TRI36_HUMAN E3 ubiquitin-protein ligase TRIM36 (sprot)

description: An E3 ubiquitin-protein ligase TRIM36 that is encoded in the genome of human.


name: NSMA3_HUMAN Sphingomyelin phosphodiesterase 4 (sprot)

description: A sphingomyelin phosphodiesterase 4 that is encoded in the genome of human.


atrial fibrillation, familial, 15

description: Any familial atrial fibrillation in which the cause of the disease is a mutation in the NUP155 gene.


undecylenic acid

An undecenoic acid having its double bond in the 10-position. It is derived from castor oil and is used for the treatment of skin problems.


name: MELT_HUMAN Ventricular zone-expressed PH domain-containing protein homolog 1 (sprot)

description: A ventricular zone-expressed PH domain-containing protein homolog 1 that is encoded in the genome of human.


name: CAB45_HUMAN 45 kDa calcium-binding protein (sprot)

description: A 45 kDa calcium-binding protein that is encoded in the genome of human.


name: SKA1_HUMAN Spindle and kinetochore-associated protein 1 (sprot)

description: A spindle and kinetochore-associated protein 1 that is encoded in the genome of human.


name: MTMRB_HUMAN Myotubularin-related protein 11 (sprot)

description: A myotubularin-related protein 11 that is encoded in the genome of human.


dacryoadenitis

description: Inflammation and enlargement of the lacrimal gland.


name: TFR2_HUMAN Transferrin receptor protein 2 (sprot)

description: A transferrin receptor protein 2 that is encoded in the genome of human.


name: GPR15_HUMAN G-protein coupled receptor 15 (sprot)

description: A G-protein coupled receptor 15 that is encoded in the genome of human.


name: SSRA_HUMAN Translocon-associated protein subunit alpha (sprot)

description: A translocon-associated protein subunit alpha that is encoded in the genome of human.


name: CSPP1_HUMAN Centrosome and spindle pole-associated protein 1 (sprot)

description: A centrosome and spindle pole-associated protein 1 that is encoded in the genome of human.


noma

description: Noma is a gangrenous disease that causes severe destruction of the soft and osseous tissues of the face.


name: DCAF1_HUMAN DDB1- and CUL4-associated factor 1 (sprot)

description: A DDB1- and CUL4-associated factor 1 that is encoded in the genome of human.


name: URB2_HUMAN Unhealthy ribosome biogenesis protein 2 homolog (sprot)

description: An unhealthy ribosome biogenesis protein 2 that is encoded in the genome of human.


name: NPA1P_HUMAN Nucleolar pre-ribosomal-associated protein 1 (sprot)

description: A nucleolar pre-ribosomal-associated protein 1 that is encoded in the genome of human.


tropodithietic acid

A monocarboxylic acid that is 8,9-dithiabicyclo[5.2.0]nona-1,3,6-triene substituted by a carboxy group at position 2 and an oxo group at position 3. It is a broad spectrum antibiotic produced by the marine bacterium Phaeobacter inhibens that also acts as a signalling molecule at lower concentrations.


name: TBC3D_HUMAN TBC1 domain family member 3D (sprot)

description: A protein that is a translation product of the TBC1D3D gene in human.


SYK_HUMAN Lysine--tRNA ligase (sprot)

A eukaryotic-type lysine--tRNA ligase that is encoded in the genome of human.


Hypocalciuria

description: An abnormally decreased calcium concentration in the urine.


ethyl chloride

The simplest and least toxic member of the class of chloroethanes, that is ethane in which a single hydrogen is substituted by a chlorine. A colourless gas at room temperature and pressure (boiling point 12degreeC), it is used as a mild topical anaesthetic to numb the skin prior to ear piercing, skin biopsies, etc., and is also used in the treatment of sports injuries. It was formerly used in the production of tetraethyllead.


myeloid sarcoma

description: A tumor mass composed of myeloblasts or immature myeloid cells. It occurs in extramedullary sites or the bone. (WHO, 2001)


name: GALR3_HUMAN Galanin receptor type 3 (sprot)

description: A galanin receptor type 3 that is encoded in the genome of human.


RALOXIFENE HYDROCHLORIDE

A hydrochloride salt resulting from the reaction of equimolar amounts of raloxifene and hydrogen chloride.


name: PLRKT_HUMAN Plasminogen receptor (KT) (sprot)

description: A plasminogen receptor (KT) that is encoded in the genome of human.


salivary gland adenoid cystic carcinoma

description: An adenoid cystic carcinoma arising from the salivary gland. It is characterized by the presence of epithelial and myoepithelial cells forming tubular, cribriform, and solid patterns. It usually presents as a slow growing mass. Patients may experience pain because of the tumor propensity for perineural invasion. The tumor may follow an aggressive clinical course with recurrences and mestastases to distant sites including lungs, bones, brain, and liver.


NEOSAXITOXIN

A pyrrolopurine that is saxitoxin carrying a hydroxy substituent on the nitrogen atom at position 5. It is a sodium channel blocker that is undergoing clinical trials as a prolonged-duration local anesthetic.


Axonal loss

description: A reduction in the number of axons in the peripheral nervous system.


METHYLAMINE

The simplest of the methylamines, consisting of ammonia bearing a single methyl substituent.


D-phenylalanine

The D-enantiomer of phenylalanine.


Orthocoronavirinae infectious disease

description: Infectious disease causes by viruses in the subfamily Orthocoronavirinae (coronaviruses). In humans, coronaviruses cause respiratory tract infections that can be mild, such as some cases of the common cold (among other possible causes, predominantly rhinoviruses), and others that can be lethal, such as SARS, MERS, and COVID-19.


name: RALA_HUMAN Ras-related protein Ral-A (sprot)

description: A Ras-related protein Ral-A that is encoded in the genome of human.


CASC3_HUMAN Protein CASC3 (sprot)

A protein CASC3 that is encoded in the genome of human.


TSN1_HUMAN Tetraspanin-1 (sprot)

A tetraspanin-1 that is encoded in the genome of human.


poly(D,L-lactic acid-co-glycolic acid)

A copolymer composed of 2-hydroxypropanoyl and 2-hydroxyacetyl units.


name: BPIB1_HUMAN BPI fold-containing family B member 1 (sprot)

description: A BPI fold-containing family B member 1 that is encoded in the genome of human.


aspergillosis

description: Aspergillosis is an infection, growth, or allergic response caused by the Aspergillus fungus. There are several different kinds of aspergillosis. One kind is allergic bronchopulmonary aspergillosis (also called ABPA), a condition where the fungus causes allergic respiratory symptoms similar to asthma, such as wheezing and coughing, but does not actually invade and destroy tissue. Another kind of aspergillosis is invasive aspergillosis. This infection usually affects people with weakened immune systems due to cancer, AIDS, leukemia, organ transplantation, chemotherapy, or other conditions or events that reduce the number of normal white blood cells. In this condition, the fungus invades and damages tissues in the body. Invasive aspergillosis most commonly affects the lungs, but can also cause infection in many other organs and can spread throughout the body (commonly affecting the kidneys and brain). Aspergilloma, a growth (fungus ball) that develops in an area of previous lung disease such as tuberculosis or lung abscess, is a third kind of aspergillosis. This type of aspergillosis is composed of a tangled mass of fungus fibers, blood clots, and white blood cells. The fungus ball gradually enlarges, destroying lung tissue in the process, but usually does not spread to other areas.


name: ELOV4_HUMAN Very long chain fatty acid elongase 4 (sprot)

description: A very long chain fatty acid elongase 4 that is encoded in the genome of human.


name: SOX14_HUMAN Transcription factor SOX-14 (sprot)

description: A transcription factor SOX-14 that is encoded in the genome of human.


name: LARG1_HUMAN Xylosyl- and glucuronyltransferase LARGE1 (sprot)

description: A xylosyl- and glucuronyltransferase LARGE1 that is encoded in the genome of human.


name: SMAL1_HUMAN SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A-like protein 1 (sprot)

description: A SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A-like protein 1 that is encoded in the genome of human.


name: TDR12_HUMAN Putative ATP-dependent RNA helicase TDRD12 (sprot)

description: A putative ATP-dependent RNA helicase TDRD12 that is encoded in the genome of human.


name: UFC1_HUMAN Ubiquitin-fold modifier-conjugating enzyme 1 (sprot)

description: A ubiquitin-fold modifier-conjugating enzyme 1 that is encoded in the genome of human.


pyruvate kinase deficiency of red cells

description: Hemolytic anemia due to red cell pyruvate kinase (PK) deficiency is a metabolic disorder characterized by a variable degree of chronic nonspherocytic hemolytic anemia.


name: SOX13_HUMAN Transcription factor SOX-13 (sprot)

description: A transcription factor SOX-13 that is encoded in the genome of human.


dental enamel hypoplasia

description: Deficiency in the enamel tissue that results in the formation of grooves, pits, or dents on the surface of the affected teeth.


name: SPIT2_HUMAN Kunitz-type protease inhibitor 2 (sprot)

description: A Kunitz-type protease inhibitor 2 that is encoded in the genome of human.


name: CKLF3_HUMAN CKLF-like MARVEL transmembrane domain-containing protein 3 (sprot)

description: A CKLF-like MARVEL transmembrane domain-containing protein 3 that is encoded in the genome of human.


N-acetyllactosamine

A beta-D-galactopyranosyl-(1->4)-N-acetyl-D-glucosamine having beta-configuration at the reducing end anomeric centre.


name: ACD10_HUMAN Acyl-CoA dehydrogenase family member 10 (sprot)

description: An acyl-CoA dehydrogenase family member 10 that is encoded in the genome of human.


medium-chain fatty acid

Any fatty acid with a chain length of between C6 and C12.


name: KI26A_HUMAN Kinesin-like protein KIF26A (sprot)

description: A kinesin-like protein KIF26A that is encoded in the genome of human.


name: KIFC2_HUMAN Kinesin-like protein KIFC2 (sprot)

description: A kinesin-like protein KIFC2 that is encoded in the genome of human.


plasmacytoma

description: Plasmacytoma is a localized mass of neoplastic monoclonal plasma cells that represents approximately 5% of all plasma cell neoplasms. There are two separate entities: primary plasmacytoma of the bone and extramedullary plasmacytoma of the soft tissues. Of the extramedullary plasmacytomas, 80% occur in the head and neck, usually in the upper respiratory tract. The median age at diagnosis is 50 years and the male to female ratio is 3:1. Long-term survival is possible following local radiotherapy, particularly for soft tissue presentations.


name: CCZ1B_HUMAN Vacuolar fusion protein CCZ1 homolog B (sprot)

description: A vacuolar fusion protein CCZ1 homolog B that is encoded in the genome of human.


aortic valve insufficiency

description: Dysfunction of the aortic valve characterized by incomplete valve closure.


name: COQ9_HUMAN Ubiquinone biosynthesis protein COQ9, mitochondrial (sprot)

description: A ubiquinone biosynthesis protein COQ9, mitochondrial that is encoded in the genome of human.


cryptosporidiosis

description: Intestinal infection with organisms of the genus Cryptosporidium. It occurs in both animals and humans. Symptoms include severe diarrhea.


name: K1H2_HUMAN Keratin, type I cuticular Ha2 (sprot)

description: A keratin, type I cuticular Ha2 that is encoded in the genome of human.


name: KANK1_HUMAN KN motif and ankyrin repeat domain-containing protein 1 (sprot)

description: A KN motif and ankyrin repeat domain-containing protein 1 that is encoded in the genome of human.


glossodynia

description: Painful sensations in the tongue, including a sensation of burning.


name: PSB4_HUMAN Proteasome subunit beta type-4 (sprot)

description: A proteasome subunit beta type-4 that is encoded in the genome of human.


levomefolic acid

A 5-methyltetrahydrofolic acid that has 6S-configuration.


molnupiravir

A nucleoside analogue that is N(4)-hydroxycytidine in which the 5'-hydroxy group is replaced by a (2-methylpropanoyl)oxy group. It is the prodrug of the active antiviral ribonucleoside analog N(4)-hydroxycytidine (EIDD-1931), has activity against a number of RNA viruses including SARS-CoV-2, MERS-CoV, and seasonal and pandemic influenza viruses. It is currently in phase III trials for the treatment of patients with COVID-19.


KLK12_HUMAN Kallikrein-12 (sprot)

A kallikrein-12 that is encoded in the genome of human.


name: DNJC7_HUMAN DnaJ homolog subfamily C member 7 (sprot)

description: A DnaJ homolog subfamily C member 7 that is encoded in the genome of human.


kidney papillary necrosis

description: A complication of kidney diseases characterized by cell death involving kidney papilla in the kidney medulla. Damages to this area may hinder the kidney to concentrate urine resulting in polyuria. Sloughed off necrotic tissue may block kidney pelvis or ureter. Necrosis of multiple renal papillae can lead to kidney failure.


name: GPNMB_HUMAN Transmembrane glycoprotein NMB (sprot)

description: A transmembrane glycoprotein NMB that is encoded in the genome of human.


name: DRB4_HUMAN HLA class II histocompatibility antigen, DR beta 4 chain (sprot)

description: An MHC class II histocompatibility antigen beta chain DRB4 that is encoded in the genome of human.


FZD8_HUMAN Frizzled-8 (sprot)

A frizzled-8 that is encoded in the genome of human.


SEPT7_HUMAN Septin-7 (sprot)

A septin-7 that is encoded in the genome of human.


CCNG1_HUMAN Cyclin-G1 (sprot)

A cyclin-G1 that is encoded in the genome of human.


lingual-facial-buccal dyskinesia

description: Syndromes which feature dyskinesias as a cardinal manifestation of the disease process. Included in this category are degenerative, hereditary, post-infectious, medication-induced, post-inflammatory, and post-traumatic conditions.


name: MYO6_HUMAN Unconventional myosin-VI (sprot)

description: A myosin-VI that is encoded in the genome of human.


phosphatidylcholine (P-42:3)

A 1-O-(alk-1-enyl)-2-O-acyl-sn-glycero-3-phosphocholine in which the unspecified alk-1-enyl and acyl groups at positions 1 and 2 contain 42 carbon atoms in total with 3 additional double bonds in the acyl moiety.


name: I13R1_HUMAN Interleukin-13 receptor subunit alpha-1 (sprot)

description: An interleukin-13 receptor subunit alpha-1 that is encoded in the genome of human.


name: MCES_HUMAN mRNA cap guanine-N7 methyltransferase (sprot)

description: An mRNA cap guanine-N7 methyltransferase that is encoded in the genome of human.


name: NMBR_HUMAN Neuromedin-B receptor (sprot)

description: A neuromedin-B receptor that is encoded in the genome of human.


name: SC5A9_HUMAN Sodium/glucose cotransporter 4 (sprot)

description: A sodium/glucose cotransporter 4 that is encoded in the genome of human.


phosphatidylcholine (14:0/18:3)

A phosphatidylcholine 32:3 in which the fatty acyl groups at positions 1 and 2 are specified as C14:0 and C18:3 respectively.


name: UN13D_HUMAN Protein unc-13 homolog D (sprot)

description: A protein unc-13 homolog D that is encoded in the genome of human.


phosphatidylcholine (18:2/20:1)

A phosphatidylcholine 38:3 in which the fatty acyl groups at positions 1 and 2 are specified as C18:2 and C20:1 respectively.


Skin-picking

description: Repetitive and compulsive picking of skin which results in tissue damage.


name: TFB2M_HUMAN Dimethyladenosine transferase 2, mitochondrial (sprot)

description: A dimethyladenosine transferase 2, mitochondrial that is encoded in the genome of human.


name: PHP14_HUMAN 14 kDa phosphohistidine phosphatase (sprot)

description: A 14 kDa phosphohistidine phosphatase that is encoded in the genome of human.


name: T2R38_HUMAN Taste receptor type 2 member 38 (sprot)

description: A taste receptor type 2 member 38 that is encoded in the genome of human.


name: RDH8_HUMAN Retinol dehydrogenase 8 (sprot)

description: A retinol dehydrogenase 8 that is encoded in the genome of human.


small intestinal bacterial overgrowth

description: The presence of excessive bacteria in the small intestine that can result from result from failure of the gastric acid barrier, failure of small intestinal motility, anatomic alterations, or impairment of systemic and local immunity.


name: OBP2A_HUMAN Odorant-binding protein 2a (sprot)

description: An odorant-binding protein 2a that is encoded in the genome of human.


name: JIP2_HUMAN C-Jun-amino-terminal kinase-interacting protein 2 (sprot)

description: A C-Jun-amino-terminal kinase-interacting protein 2 that is encoded in the genome of human.


MYH4_HUMAN Myosin-4 (sprot)

A myosin-4 that is encoded in the genome of human.


bidirectional tachycardia

description: Bidirectional ventricular tachycardia (BDVT) is a regular ventricular tachyarrhythmia (VT) with two different QRS morphologies alternating at a rate typically between 140 and 180 bpm.


acid sphingomyelinase deficiency

description: An autosomal recessive lysosomal disease caused by biallelic loss of function variants in the SMPD1 gene. Clinical symptoms in affected individuals occur along a continuum. At the severe end of the spectrum are individuals historically diagnosed with Niemann-Pick disease type A (the neurovisceral form), which is characterized by hepatosplenomegaly with rapid neurological deterioration leading to death in the first few years of life. At the milder end of the spectrum are individuals historically diagnosed with Niemann-Pick disease type B, a later-onset, chronic visceral form, characterized by progressive visceral organ symptoms including hepatosplenomegaly and pulmonary insufficiency, and survival into adulthood. In addition, some affected individuals present with an intermediate phenotype, Niemann-Pick disease type A/B.


mesenchymal cell neoplasm

description: A benign, intermediate, or malignant neoplasm that arises from the mesenchyma-derived cells of the soft tissue or bone. Representative examples include lipoma, leiomyoma, leiomyosarcoma and osteosarcoma.


ELAF_HUMAN Elafin (sprot)

An elafin that is encoded in the genome of human.


intracranial thrombosis

description: Formation or presence of a blood clot (thrombus) in a blood vessel within the skull. Intracranial thrombosis can lead to thrombotic occlusions and brain infarction. The majority of the thrombotic occlusions are associated with atherosclerosis.


heart leiomyosarcoma

description: An aggressive malignant smooth muscle neoplasm, arising from the heart. It is characterized by a proliferation of neoplastic spindle cells.


MTSS1_HUMAN Protein MTSS 1 (sprot)

A protein MTSS 1 that is encoded in the genome of human.


name: GRHL1_HUMAN Grainyhead-like protein 1 homolog (sprot)

description: A grainyhead-like protein 1 that is encoded in the genome of human.


name: ASB13_HUMAN Ankyrin repeat and SOCS box protein 13 (sprot)

description: An ankyrin repeat and SOCS box protein 13 that is encoded in the genome of human.


name: CCD54_HUMAN Coiled-coil domain-containing protein 54 (sprot)

description: A coiled-coil domain-containing protein 54 that is encoded in the genome of human.


name: PCH2_HUMAN Pachytene checkpoint protein 2 homolog (sprot)

description: A thyroid receptor-interacting protein 13 that is encoded in the genome of human.


name: ZSCA1_HUMAN Zinc finger and SCAN domain-containing protein 1 (sprot)

description: A zinc finger and SCAN domain-containing protein 1 that is encoded in the genome of human.


name: TRI11_HUMAN E3 ubiquitin-protein ligase TRIM11 (sprot)

description: An E3 ubiquitin-protein ligase TRIM11 that is encoded in the genome of human.


name: SRSF6_HUMAN Serine/arginine-rich splicing factor 6 (sprot)

description: A serine/arginine-rich splicing factor 6 that is encoded in the genome of human.


CYB5_HUMAN Cytochrome b5 (sprot)

A cytochrome b5 that is encoded in the genome of human.


idazoxan

A benzodioxine that is 2,3-dihydro-1,4-benzodioxine in which one of the hydrogens at position 2 has been replaced by a 4,5-dihydro-1H-imidazol-2-yl group.


TROLOX

A chromanol that is 6-hydroxychromane which is substituted by a carboxy group at position 2 and by methyl groups at positions 2, 5, 7, and 8. A cell-permeable, water-soluble analogue of vitamin E, it is used as a standard for measuring the antioxidant capacity of complex mixtures.


osteonecrosis of the jaw

description: An area of necrotic bone in the mandible or maxilla.


PROPIOLIC ACID

A terminal acetylenic compound that is a 3-carbon, straight-chain, monounsaturated fatty acid having one acetylenic bond.


name: U2AFM_HUMAN U2 small nuclear ribonucleoprotein auxiliary factor 35 kDa subunit-related protein 2 (sprot)

description: A U2 small nuclear ribonucleoprotein auxiliary factor 35 kDa subunit-related protein 2 that is encoded in the genome of human.


endometrioid adenocarcinoma

description: An adenocarcinoma characterized by the presence of malignant glandular epithelial cells resembling endometrial cells. It can arise from the uterine body, ovary, fallopian tube, cervix, vagina, and uterine ligament.


cytomegalovirus pneumonia

description: Pneumonia caused by cytomegalovirus. Most humans are exposed to cytomegalovirus. Healthy individuals do not develop signs and symptoms of infection. Patients with weakened immune system (e.g., AIDS patients, cancer patients who are being treated with chemotherapy, and patients who have received bone marrow or solid organ transplants) develop signs and symptoms of infection. They include cough, shortness of breath, fatigue, malaise, fever, muscle and joint pain, and excessive sweating.


name: PTN3_HUMAN Tyrosine-protein phosphatase non-receptor type 3 (sprot)

description: A tyrosine-protein phosphatase non-receptor type 3 that is encoded in the genome of human.


clear cell ependymoma

description: An ependymoma, often supratentorial in location, characterized by the presence of ependymal cells with a perinuclear halo.


name: FANK1_HUMAN Fibronectin type 3 and ankyrin repeat domains protein 1 (sprot)

description: A fibronectin type 3 and ankyrin repeat domains protein 1 that is encoded in the genome of human.


name: GUC2F_HUMAN Retinal guanylyl cyclase 2 (sprot)

description: A retinal guanylyl cyclase 2 that is encoded in the genome of human.


name: CELF3_HUMAN CUGBP Elav-like family member 3 (sprot)

description: A CUGBP Elav-like family member 3 that is encoded in the genome of human.


name: PTER_HUMAN Phosphotriesterase-related protein (sprot)

description: A phosphotriesterase-related protein that is encoded in the genome of human.


Mycobacterium avium complex disease

description: An infection that is caused by Mycobacterium avium.


name: CP26A_HUMAN Cytochrome P450 26A1 (sprot)

description: A cytochrome P450 26A1 that is encoded in the genome of human.


name: TAAR1_HUMAN Trace amine-associated receptor 1 (sprot)

description: A trace amine-associated receptor 1 that is encoded in the genome of human.


name: ARL14_HUMAN ADP-ribosylation factor-like protein 14 (sprot)

description: An ADP-ribosylation factor-like protein 14 that is encoded in the genome of human.


name: MB3L2_HUMAN Methyl-CpG-binding domain protein 3-like 2 (sprot)

description: A methyl-CpG-binding domain protein 3-like 2 that is encoded in the genome of human.


extrahepatic biliary atresia

description: A disorder of infants in which there is progressive obliteration or discontinuity of the extrahepatic biliary system, resulting in obstruction of bile flow.


name: EMP2_HUMAN Epithelial membrane protein 2 (sprot)

description: An epithelial membrane protein 2 that is encoded in the genome of human.


gadoversetamide

A gadolinium coordination entity that consists of Gd(3+) coordinated to 3,6,9-triazaundecadiamide in which each of the amide nitrogens is substituted by a 2-methoxyethyl group and in which the nitrogens at positions 3, 6, and 9 are each substituted by carboxylatomethyl group. The gadolinium is coordinated to the three tertiary amino groups as well as to the carboxylate groups. A white odourless powder that is freely soluble in water, gadoversetamide has paramagnetic properties and is used as a contrast agent in magnetic resonance imaging. It distributes mainly in extracellular fluid, but does not cross the blood-brain barrier. It is used particularly in imaging the brain, spine and liver.


name: 2ABD_HUMAN Serine/threonine-protein phosphatase 2A 55 kDa regulatory subunit B delta isoform (sprot)

description: A serine/threonine-protein phosphatase 2A 55 kDa regulatory subunit B delta isoform that is encoded in the genome of human.


denture stomatitis

description: Inflammation of the mouth due to denture irritation.


name: RBBP4_HUMAN Histone-binding protein RBBP4 (sprot)

description: A histone-binding protein RBBP4 that is encoded in the genome of human.


MUC3A_HUMAN Mucin-3A (sprot)

A mucin-3A that is encoded in the genome of human.


name: KI16B_HUMAN Kinesin-like protein KIF16B (sprot)

description: A kinesin-like protein KIF16B that is encoded in the genome of human.


ETS2_HUMAN Protein C-ets-2 (sprot)

A protein C-ets-2 that is encoded in the genome of human.


ANXA8_HUMAN Annexin A8 (sprot)

An annexin A8 that is encoded in the genome of human.


name: SRP68_HUMAN Signal recognition particle subunit SRP68 (sprot)

description: A signal recognition particle subunit SRP68 that is encoded in the genome of human.


name: SRP19_HUMAN Signal recognition particle 19 kDa protein (sprot)

description: A signal recognition particle 19 kDa protein that is encoded in the genome of human.


name: GSTA4_HUMAN Glutathione S-transferase A4 (sprot)

description: A glutathione S-transferase A4 that is encoded in the genome of human.


name: HERC6_HUMAN Probable E3 ubiquitin-protein ligase HERC6 (sprot)

description: A probable E3 ubiquitin-protein ligase HERC6 that is encoded in the genome of human.


FAT1_HUMAN Protocadherin Fat 1 (sprot)

A protocadherin Fat 1 that is encoded in the genome of human.


name: PHLB2_HUMAN Pleckstrin homology-like domain family B member 2 (sprot)

description: A pleckstrin homology-like domain family B member 2 that is encoded in the genome of human.


nuclear cataract

description: A cataract (disease) that involves the lens nucleus.


name: GDAP1_HUMAN Ganglioside-induced differentiation-associated protein 1 (sprot)

description: A ganglioside-induced differentiation-associated protein 1 that is encoded in the genome of human.


Hypoplasia of the thymus

description: Underdevelopment of the thymus.


epilepsy, idiopathic generalized

description: A chronic condition characterized by recurrent generalized seizures.


name: SMYD5_HUMAN Histone-lysine N-trimethyltransferase SMYD5 (sprot)

description: A histone-lysine N-trimethyltransferase SMYD5 that is encoded in the genome of human.


Alagille syndrome

description: Alagille (AGS) syndrome is variably characterized by chronic cholestasis due to paucity of intrahepatic bile ducts, peripheral pulmonary artery stenosis, vertebrae segmentation anomalies, characteristic facies, posterior embryotoxon/anterior segment abnormalities, pigmentary retinopathy, and dysplastic kidneys.


prostate small cell carcinoma

description: A neuroendocrine carcinoma of the prostate gland with unfavorable prognosis, composed of small cells containing neurosecretory granules. Approximately half of the cases show a mixture of small cells and adenocarcinoma cells.


name: SCAF8_HUMAN SR-related and CTD-associated factor 8 (sprot)

description: An SR-related and CTD-associated factor 8 that is encoded in the genome of human.


name: SCAF4_HUMAN SR-related and CTD-associated factor 4 (sprot)

description: An SR-related and CTD-associated factor 4 that is encoded in the genome of human.


PIMELIC ACID

An alpha,omega-dicarboxylic acid that is pentane with two carboxylic acid groups at positions C-1 and C-5.


name: GBF1_HUMAN Golgi-specific brefeldin A-resistance guanine nucleotide exchange factor 1 (sprot)

description: A Golgi-specific brefeldin A-resistance guanine nucleotide exchange factor 1 that is encoded in the genome of human.


name: SYDC_HUMAN Aspartate--tRNA ligase, cytoplasmic (sprot)

description: An aspartate--tRNA ligase, cytoplasmic that is encoded in the genome of human.


name: HOP_HUMAN Homeodomain-only protein (sprot)

description: A homeodomain-only protein that is encoded in the genome of human.


familial colorectal cancer

description: Familial colon cancer is a cluster of colon cancer within a family. Most cases of colon cancer occur sporadically in people with little to no family history of the condition. Approximately 3-5% of colon cancer is considered 'hereditary' and is thought to be caused by an inherited predisposition tocolon cancer that is passed down through a family in an autosomal dominant or autosomal recessive manner. In some of these families, the underlying genetic cause is not known; however, many of these cases are caused by changes (mutations) in the APC , MYH , MLH1 , MSH2 , MSH6 , PMS2 , EPCAM , PTEN , STK11 , SMAD4 , BMPR1A , NTHL1 , POLE , and POLD1 genes (which are associated with hereditary cancer syndromes). An additional 10-30% of people diagnosed with colon cancer have a significant family history of the condition but have no identifiable mutation in a gene known to cause a hereditary predisposition to colon cancer. These clusters of colon cancer are likely due to a combination of gene(s) and other shared factors such as environment and lifestyle. High-risk cancer screening and other preventative measures such as prophylactic surgeries are typically recommended in people who have an increased risk for colon cancer based on their personal and/or family histories.


name: LRRN1_HUMAN Leucine-rich repeat neuronal protein 1 (sprot)

description: A leucine-rich repeat neuronal protein 1 that is encoded in the genome of human.


name: LRCH4_HUMAN Leucine-rich repeat and calponin homology domain-containing protein 4 (sprot)

description: A leucine-rich repeat and calponin homology domain-containing protein 4 that is encoded in the genome of human.


engraftment syndrome

description: A toxicity of hematopoietic stem cell transplantation that manifests as fever, rash and pulmonary deterioration which becomes evident at marrow engraftment. It occurs unexpectedly and is occasionally fatal. It can occur after an autogeneic or an allogeneic hematopoietic cell transplantation.


neurodermatitis

description: Skin findings arising from repeated rubbing, picking or scratching of a real or imagined irritation of the skin.


name: NEUL_HUMAN Neurolysin, mitochondrial (sprot)

description: A neurolysin, mitochondrial that is encoded in the genome of human.


gentisic acid

A dihydroxybenzoic acid having the two hydroxy groups at the 2- and 5-positions.


zofenoprilat

A proline derivative that is 4-(phenylsulfanyl)-L-proline in which the amine proton is replaced by a (2S)-2-methyl-3-sulfanylpropanoyl group. The active metabolite of zofenopril.


name: SYMM_HUMAN Methionine--tRNA ligase, mitochondrial (sprot)

description: A methionyl-tRNA synthetase, mitochondrial that is encoded in the genome of human.


name: IGLL1_HUMAN Immunoglobulin lambda-like polypeptide 1 (sprot)

description: An immunoglobulin lambda-like polypeptide 1 that is encoded in the genome of human.


THIOACETAMIDE

A thiocarboxamide consiting of acetamide having the oxygen replaced by sulfur.


testicular germ cell tumor

description: A germ cell tumor arising from the testis. Representative examples include teratoma, seminoma, embryonal carcinoma, and yolk sac tumor.


omphalitis

description: Inflammation of the umbilical cord stump in newborns.


chorioretinitis

description: Inflammation of the distal posterior uveal tract (choroid) and its structural and vascular attachments to the retina. It is usually caused by infection and though rare, it is clinically significant due to its most serious sequela: loss of vision.


name: COQ4_HUMAN Ubiquinone biosynthesis protein COQ4 homolog, mitochondrial (sprot)

description: A ubiquinone biosynthesis protein COQ4, mitochondrial that is encoded in the genome of human.


name: CPXCR_HUMAN CPX chromosomal region candidate gene 1 protein (sprot)

description: A CPX chromosomal region candidate gene 1 protein that is encoded in the genome of human.


name: SH21A_HUMAN SH2 domain-containing protein 1A (sprot)

description: An SH2 domain-containing protein 1A that is encoded in the genome of human.


name: MARH6_HUMAN E3 ubiquitin-protein ligase MARCHF6 (sprot)

description: An E3 ubiquitin-protein ligase MARCHF6 that is encoded in the genome of human.


staphylococcal pneumonia

description: Pneumonia caused by infections with bacteria of the genus staphylococcus, usually with staphylococcus aureus.


hymecromone

A hydroxycoumarin that is umbelliferone substituted by a methyl group at position 4.


name: SDF2_HUMAN Stromal cell-derived factor 2 (sprot)

description: A stromal cell-derived factor 2 that is encoded in the genome of human.


name: E4F1_HUMAN Transcription factor E4F1 (sprot)

description: A transcription factor E4F1 that is encoded in the genome of human.


name: APC13_HUMAN Anaphase-promoting complex subunit 13 (sprot)

description: An anaphase-promoting complex subunit 13 that is encoded in the genome of human.


name: UN13A_HUMAN Protein unc-13 homolog A (sprot)

description: A protein unc-13 homolog A that is encoded in the genome of human.


name: GRM7_HUMAN Metabotropic glutamate receptor 7 (sprot)

description: A metabotropic glutamate receptor 7 that is encoded in the genome of human.


name: M4K4_HUMAN Mitogen-activated protein kinase kinase kinase kinase 4 (sprot)

description: A mitogen-activated protein kinase kinase kinase kinase 4 that is encoded in the genome of human.


DiGeorge syndrome

description: A congenital anomaly characterized by immunodeficiency, abnormal facies, congenital heart disease, hypocalcemia, and increased susceptibility to infections. Pathologic characteristics include conotruncal abnormalities and absence or hypoplasia of thymus and parathyroid glands. DiGeorge syndrome is associated with abnormalities of chromosome 22. Also known as DiGeorge anomaly.


name: KCIP2_HUMAN Kv channel-interacting protein 2 (sprot)

description: A Kv channel-interacting protein 2 that is encoded in the genome of human.


endometrioid stromal sarcoma

description: A malignant mesenchymal neoplasm that affects the uterine corpus, and rarely, the ovaries, cervix, and vagina. In the uterine corpus it is classified as low grade or high grade endometrial stromal sarcoma. In the remainder of the anatomic sites it is classified as low grade endometrioid stromal sarcoma.


name: CO6A3_HUMAN Collagen alpha-3(VI) chain (sprot)

description: A collagen alpha-3(VI) chain that is encoded in the genome of human.


FLUOROBENZENE

Any fluoroarene that is a benzene or a substituted benzene carrying at least one fluoro group.


name: UTP23_HUMAN rRNA-processing protein UTP23 homolog (sprot)

description: An rRNA-processing protein UTP23 that is encoded in the genome of human.


name: TTL12_HUMAN Tubulin--tyrosine ligase-like protein 12 (sprot)

description: A tubulin--tyrosine ligase-like protein 12 that is encoded in the genome of human.


ISORHAMNETIN

A monomethoxyflavone that is quercetin in which the hydroxy group at position 3' is replaced by a methoxy group.


description: Mesangial proliferative glomerulonephritis (MPGN) is a condition that affects the kidneys. Many experts consider it a variant of minimal change disease, but some experts believe it is a separate condition. It may present with nephrotic syndrome, which is a group of symptoms that include protein in the urine (proteinuria), low blood protein levels, high cholesterol levels, high triglyceride levels, and swelling. It can also present with blood in the urine (hematuria). MPGN is characterized by an increased number of mesangial cells in the glomeruli in the kidneys and damage to the glomeruli. Glomeruli are the structures that help filter wastes and fluids. MPGN may occur in several renal diseases such as IgA nephropathy (commonly), IgM nephropathy, lupus nephritis, and C1q nephropathy.However, in some cases, the underlying cause of MPGN remains unclear. Treatment may depend on the cause (if known) and may include steroids, mycophenolate mofetil, and/or cyclophosphamide, and other therapies to treat specific symptoms. Most people with MPGN have a good prognosis, but some may develop chronic kidney disease, which can progress to end stage renal failure.


vitamin K

Any member of a group of fat-soluble 2-methyl-1,4-napthoquinones that exhibit biological activity against vitamin K deficiency. Vitamin K is required for the synthesis of prothrombin and certain other blood coagulation factors.


Singleton-Merten dysplasia

description: Singleton-Merten dysplasia is characterized by dental dysplasia, progressive calcification of the thoracic aorta with stenosis, osteoporosis and expansion of the marrow cavities in hand bones. Additional features included generalized muscle weakness and atrophy, and chronic psoriasiform skin eruptions. It has been reported in four unrelated patients (male and female) and in a family with multiple affected members (male).


name: chronic lymphoproliferative disorder of NK-cells

description: An Epstein-Barr virus negative disorder with a chronic clinical course affecting predominantly adults and characterized by the proliferation of large granular lymphocytes with natural killer cell immunophenotype. The T-cell receptor genes are not rearranged.


name: SHCAF_HUMAN SIN3-HDAC complex-associated factor (sprot)

description: A SIN3-HDAC complex-associated factor that is encoded in the genome of human.


cinnamycin

A type B lantibiotic consisting of a 19 amino acid tetracyclic polypeptide produced by Streptomyces cinnamoneus.


name: AFF1_HUMAN AF4/FMR2 family member 1 (sprot)

description: An AF4/FMR2 family member 1 that is encoded in the genome of human.


A glyceride in which any one of the R groups (position not specified) is an acyl group while the remaining two R groups can be either H or alkyl groups.


lysosomal storage disease

description: A metabolic disorder caused by mutations in proteins critical for lysosomal function, including lysosomal enzymes, lysosomal integral membrane proteins, and proteins involved in the post-translational modification and trafficking of lysosomal proteins.


An organic heterotetracyclic compound that is 7,12-dihydropyrido[3',2':2,3]azepino[4,5-b]indole substituted at positions 6 and 9 by oxo and bromo groups respectively.


name: K1C26_HUMAN Keratin, type I cytoskeletal 26 (sprot)

description: A keratin, type I cytoskeletal 26 that is encoded in the genome of human.


trachoma

description: A chronic infection of the conjunctiva and cornea caused by chlamydia trachomatis.


name: CAZA1_HUMAN F-actin-capping protein subunit alpha-1 (sprot)

description: An F-actin-capping protein subunit alpha-1 that is encoded in the genome of human.


reactive airway disease

description: Coughing, wheezing, or shortness of breath that is triggered by allergens, infection, or other irritants.


jawsamycin

A polyketide that is 5'-amino-5'-deoxy-3,4,5,6-tetrahydrouridine in which one of the hydrogens of the amino group is substituted by a (1E,3E)-1-[(1R,1'R,1''R,1'''R,2S,2'R,2''R,2'''S)-2'''-{(E)-2-[(1R,2R)-2-methylcyclopropyl]ethenyl}[1,1':2',1'':2'',1'''-quater(cyclopropan)]-2-yl]-5-oxopenta-1,3-dien-5-yl group. It is a metabolite isolated from the bacterium, Streptoverticillium fervens and targets the catalytic subunit of the fungal UDP-glycosyltransferase, the first step in the biosynthesis of glycosylphosphatidylinositol (GPI) anchors. It exhibits broad spectrum antifungal activity against several pathogenic fungi including Mucorales.


CAD17_HUMAN Cadherin-17 (sprot)

A cadherin-17 that is encoded in the genome of human.


name: MOB1B_HUMAN MOB kinase activator 1B (sprot)

description: A MOB kinase activator 1B that is encoded in the genome of human.


name: PRIMA_HUMAN Proline-rich membrane anchor 1 (sprot)

description: A proline-rich membrane anchor 1 that is encoded in the genome of human.


name: NOLC1_HUMAN Nucleolar and coiled-body phosphoprotein 1 (sprot)

description: A nucleolar phosphoprotein p130 that is encoded in the genome of human.


name: CLCA3_HUMAN Calcium-activated chloride channel regulator family member 3 (sprot)

description: A calcium-activated chloride channel regulator family member 3 that is encoded in the genome of human.


name: PAXI1_HUMAN PAX-interacting protein 1 (sprot)

description: A PAX-interacting protein 1 that is encoded in the genome of human.


Enlarged kidney

description: An abnormal increase in the size of the kidney.


neurofibromatosis type 2

description: A tumor-prone disorder characterized by the development of multiple schwannomas and meningiomas.


METACRESOL

A cresol with the methyl substituent at position 3. It is a minor urinary metabolite of toluene.


phosphatidylethanolamine (16:0/17:1)

A phosphatidylethanolamine 33:1 in which the acyl group at C-1 contains 16 carbons and no double bonds while that at C-2 contains 17 carbons and 1 double bond.


lumefantrine

A member of the class of fluorenes that is 9-(p-chlorobenzylidene)-9H-fluorene which is substitutec by chlorine at positions 2 and 7, and by a 2-(dibutylamino)-1-hydroxyethyl group at position 4. An antimalarial drug used in combination with artemether for the treatment of multi-drug resistant strains of falciparum malaria.


ALVERINE CITRATE

The citrate salt of alverine, resulting from the reaction of equimolar amounts of alvarine and citric acid. An antispasmodic that acts directly on intestinal and uterine smooth muscle, it is used in the treatment of irritable bowel syndrome.


cornea squamous cell carcinoma

description: A rare squamous cell carcinoma that arises from the cornea.


Aland island eye disease

description: An X-linked recessive retinal disease characterized by fundus hypopigmentation, decrased visual acuity, nystagmus, astigmatism, progressive axial myopia, defective dark adaptation and protanopia.


amsacrine

A sulfonamide that is N-phenylmethanesulfonamide substituted by a methoxy group at position 3 and an acridin-9-ylamino group at position 4. It exhibits  antineoplastic activity.


acute myocarditis

description: The sudden onset of inflammation of heart muscle with myocellular necrosis; this is generally secondary to an infectious cause, and patients often have a recent history of a flu-like illness.


name: FOXP4_HUMAN Forkhead box protein P4 (sprot)

description: A forkhead box protein P4 that is encoded in the genome of human.


GLABRIDIN

A member of the class of  hydroxyisoflavans that is (R)-isoflavan substituted by hydroxy groups at positions 2' and 4' and a 2,2-dimethyl-2H-pyran group across positions 7 and 8 respectively.


TAURODEOXYCHOLIC ACID

A bile acid taurine conjugate of deoxycholic acid.


pralidoxime

A pyridinium ion that is 1-methylpyridinium substituted by a (hydroxyimino)methyl group at position 2.


methyl pyruvate

A pyruvate ester resultinf grom the formal condensation of the carboxy group of pyruvic acid with the hydroxy group of methanol.


TNFC_HUMAN Lymphotoxin-beta (sprot)

A lymphotoxin-beta that is encoded in the genome of human.


combined dystonia

description: A dystonia that is combined with another movement disorder (e.g., myoclonus, parkinsonism).


Focal-onset seizure

description: A focal-onset seizure is a type of seizure originating within networks limited to one hemisphere. They may be discretely localized or more widely distributed, and may originate in subcortical structures.


secondary adrenal insufficiency

description: A hormonal disorder that occurs when lack of corticotropin-releasing hormone (CRH) secretion from the hypothalamus or adrenocorticotropic hormone (ACTH) secretion from the pituitary is responsible for hypofunction of the adrenal cortex.


ATHRAQUINONES A

A dihydroxyanthraquinone that is anthracene-9,10-dione in which the two hydroxy groups are located at positions 1 and 2.


name: LAMB2_HUMAN Laminin subunit beta-2 (sprot)

description: A laminin subunit beta-2 that is encoded in the genome of human.


name: HMGN3_HUMAN High mobility group nucleosome-binding domain-containing protein 3 (sprot)

description: A high mobility group nucleosome-binding domain-containing protein 3 that is encoded in the genome of human.


breast lymphoma

description: A lymphoma that arises from the breast. There is no history of extramammary breast lymphoma and ipsilateral axillary lymph node involvement does not exclude the diagnosis of primary breast lymphoma. Most patients present with a painless breast lump. The vast majority of cases are B-cell non-Hodgkin lymphomas. Diffuse large B-cell lymphoma, follicular lymphoma, and extranodal marginal zone B-cell lymphoma of mucosa associated lymphoid tissue are the most common types of primary non-Hodgkin lymphoma of the breast. Primary Hodgkin lymphoma of the breast is rare.


name: ST18_HUMAN Suppression of tumorigenicity 18 protein (sprot)

description: A suppression of tumorigenicity 18 protein that is encoded in the genome of human.


name: LETM2_HUMAN LETM1 domain-containing protein LETM2, mitochondrial (sprot)

description: A LETM1 domain-containing protein LETM2, mitochondrial that is encoded in the genome of human.


Chagas cardiomyopathy

description: A disease of the cardiac muscle developed subsequent to the initial protozoan infection by trypanosoma cruzi. After infection, less than 10% develop acute illness such as myocarditis (mostly in children). The disease then enters a latent phase without clinical symptoms until about 20 years later. Myocardial symptoms of advanced chagas disease include conduction defects (heart block) and cardiomegaly.


name: SPIB_HUMAN Transcription factor Spi-B (sprot)

description: A transcription factor Spi-B that is encoded in the genome of human.


STX16_HUMAN Syntaxin-16 (sprot)

A syntaxin-16 that is encoded in the genome of human.


VINEX_HUMAN Vinexin (sprot)

A vinexin that is encoded in the genome of human.


NITROBENZENE

A nitroarene consisting of benzene carrying a single nitro substituent. An industrial chemical used widely in the production of aniline.


darifenacin

2-[(3S)-1-Ethylpyrrolidin-3-yl]-2,2-diphenylacetamide in which one of the hydrogens at the 2-position of the ethyl group is substituted by a  2,3-dihydro-1-benzofuran-5-yl group. It is a selective antagonist for the M3 muscarinic acetylcholine receptor, which is primarily responsible for bladder muscle contractions, and is used as the hydrobromide salt in the management of urinary incontinence.


name: PPM1H_HUMAN Protein phosphatase 1H (sprot)

description: A protein phosphatase 1H that is encoded in the genome of human.


name: CDK18_HUMAN Cyclin-dependent kinase 18 (sprot)

description: A cyclin-dependent kinase 18 that is encoded in the genome of human.


name: TRI40_HUMAN E3 ubiquitin ligase TRIM40 (sprot)

description: An E3 ubiquitin ligase TRIM40 that is encoded in the genome of human.


name: AKA28_HUMAN A-kinase anchor protein 14 (sprot)

description: An A-kinase anchor protein 14 that is encoded in the genome of human.


ankylosis

description: Fixation and immobility of a joint.


name: Elevated circulating alkaline phosphatase concentration

description: Abnormally increased serum levels of alkaline phosphatase activity.


name: ACSF4_HUMAN Beta-alanine-activating enzyme (sprot)

description: A beta-alanine-activating enzyme that is encoded in the genome of human.


hepatobiliary disorder

description: A non-neoplastic or neoplastic disorder that affects the liver, bile ducts, and gallbladder. Representative examples of non-neoplastic disorders include hepatitis, cirrhosis, cholangitis, and cholecystitis. Representative examples of neoplastic disorders include hepatocellular adenoma, hepatocellular carcinoma, and cholangiocarcinoma.


name: LTBP3_HUMAN Latent-transforming growth factor beta-binding protein 3 (sprot)

description: A latent-transforming growth factor beta-binding protein 3 that is encoded in the genome of human.


name: SOX15_HUMAN Transcription factor SOX-15 (sprot)

description: A protein SOX-15 that is encoded in the genome of human.


name: PP13G_HUMAN Protein phosphatase 1 regulatory subunit 3G (sprot)

description: A protein phosphatase 1 regulatory subunit 3G that is encoded in the genome of human.


DOXECITINE

A pyrimidine 2'-deoxyribonucleoside having cytosine as the nucleobase.


myeloproliferative neoplasm

description: A clonal hematopoietic stem cell disorder, characterized by proliferation in the bone marrow of one or more of the myeloid (i.e., granulocytic, erythroid, megakaryocytic, and mast cell) lineages. It is primarily a neoplasm of adults. (WHO 2008)


name: ACD11_HUMAN Acyl-CoA dehydrogenase family member 11 (sprot)

description: An acyl-CoA dehydrogenase family member 11 that is encoded in the genome of human.


prediabetes syndrome

description: A condition in which blood glucose levels are high, but not high enough to be classified as type 2 diabetes.


name: GUC2D_HUMAN Retinal guanylyl cyclase 1 (sprot)

description: A retinal guanylyl cyclase 1 that is encoded in the genome of human.


name: ELL3_HUMAN RNA polymerase II elongation factor ELL3 (sprot)

description: An RNA polymerase II elongation factor ELL3 that is encoded in the genome of human.


name: FOXF2_HUMAN Forkhead box protein F2 (sprot)

description: A forkhead box protein F2 that is encoded in the genome of human.


ACTH-producing pituitary gland adenoma

description: An adenoma of the pituitary gland that produces corticotropin. The vast majority of cases are associated with Cushing disease. Clinical manifestations include truncal obesity with thin extremities, thinning of the skin, osteoporosis, and a tendency to bruise easily. Silent or hormonally non-functioning ACTH producing adenomas have also been described. They produce symptoms of a mass-related lesion.


name: ANR12_HUMAN Ankyrin repeat domain-containing protein 12 (sprot)

description: An ankyrin repeat domain-containing protein 12 that is encoded in the genome of human.


duodenitis

description: Acute or chronic inflammation of the duodenum. Causes include bacterial and viral infections and gastroesophageal reflux disease. Symptoms include vomiting and abdominal pain.


LEG2_HUMAN Galectin-2 (sprot)

A galectin-2 that is encoded in the genome of human.


name: BARH1_HUMAN BarH-like 1 homeobox protein (sprot)

description: A BarH-like 1 homeobox protein that is encoded in the genome of human.


name: SSBP3_HUMAN Single-stranded DNA-binding protein 3 (sprot)

description: A single-stranded DNA-binding protein 3 that is encoded in the genome of human.


solitary rectal ulcer syndrome

description: Solitary rectal ulcer syndrome (SRUS) is a rare rectal disease characterized by rectal bleeding, abdominal pain, passage of mucus, sensation of incomplete evacuation, straining at defecation and rectal prolapsed, secondary to ischemic changes in the rectum.


steroid-resistant nephrotic syndrome

description: Nephrotic syndrome, occurring in the pediatric population, in which proteinuria does not normalize with administration of steroids; this condition is unresponsive to a minimum of four weeks administration of oral corticosteroids.


name: IREB2_HUMAN Iron-responsive element-binding protein 2 (sprot)

description: An iron-responsive element-binding protein 2 that is encoded in the genome of human.


name: FYCO1_HUMAN FYVE and coiled-coil domain-containing protein 1 (sprot)

description: A FYVE and coiled-coil domain-containing protein 1 that is encoded in the genome of human.


name: BORG3_HUMAN Cdc42 effector protein 5 (sprot)

description: A Cdc42 effector protein 5 that is encoded in the genome of human.


nasopharyngeal neoplasm

description: A benign or malignant neoplasm affecting the nasopharynx. Representative examples of benign neoplasms include angiofibroma and squamous papilloma. Representative examples of malignant neoplasms include keratinizing squamous cell carcinoma and nonkeratinizing carcinoma.


F162B_HUMAN Protein FAM162B (sprot)

A protein FAM162B that is encoded in the genome of human.


name: JKIP1_HUMAN Janus kinase and microtubule-interacting protein 1 (sprot)

description: A Janus kinase and microtubule-interacting protein 1 that is encoded in the genome of human.


name: RET_HUMAN Proto-oncogene tyrosine-protein kinase receptor Ret (sprot)

description: A proto-oncogene tyrosine-protein kinase receptor Ret that is encoded in the genome of human.


C1Q deficiency

description: C1q deficiency is a rare disorder associated with recurrent skin lesions, chronic infections, systemic lupus erythematosus (SLE) or SLE-like diseases. It has also been associated with a kidney disease known as mesangial proliferative glomerulonephritis. C1q is a complex and together with other proteins, C1r and C1s, it forms the C1 complex. This complex is important for the activation of the complement system (a group of proteins that work with the immune system). It also disposes cells that are dead. C1q deficiency presents in 2 different forms, absent C1q protein or abnormal C1q protein. Symptoms include infections (ear infections (otitis media), meningitis, urinary tract infections, oral infections); skin lesions (small blisters (vesicles), dark patches, and atrophic areas) that get worse upon light exposure; cataracts; loss of eyelashes, eyebrows, and scalp hair; blood in urine; and glomerulonephritis. About 93% of cases are associated with systemic lupus erythematosus. It can be caused by mutations in the C1QA, C1QB or C1QC genes and is inherited in an autosomal recessive pattern. Treatment depends on the symptoms. Recently, it was shown that C1q production can be restored by allogeneic hematopoietic stem cell transplantation, a procedure in which a person receives blood-forming stem cells (cells from which all blood cells develop) from a genetically similar, but not identical donor.


alpha-carotene

A cyclic carotene with a beta- and an epsilon-ring at opposite ends respectively.


fotemustine

A racemate comprising equimolar amounts of (R)- and (S)-fotemustine. It is an alkylating agent used in the treatment of malignant melanoma.


hypochromic anemia

description: Anemia caused by the reduction of hemoglobin in relation to the red cell volume. As a result, the red cells have an area of central pallor which is increased in size. The leading cause is iron deficiency.


name: CNNM1_HUMAN Metal transporter CNNM1 (sprot)

description: A metal transporter CNNM1 that is encoded in the genome of human.


name: DRG1_HUMAN Developmentally-regulated GTP-binding protein 1 (sprot)

description: A developmentally-regulated GTP-binding protein 1 that is encoded in the genome of human.


LRAT1_HUMAN Protein LRATD1 (sprot)

A protein LRATD1 that is encoded in the genome of human.


separation anxiety disorder

description: An anxiety disorder characterized by recurrent excessive distress due to fear of separation from the home or from major attachment figures; the distress is developmentally inappropriate and causes impairment in social, academic, or other areas of functioning.


logopenic progressive aphasia

description: Logopenic progressive aphasia (lv-PPA) is a form of primary progressive aphasia (PPA), characterized by impaired single-word retrieval and naming and impaired repetition with spared single-word comprehension and object knowledge.


name: PG12A_HUMAN Group XIIA secretory phospholipase A2 (sprot)

description: A group XIIA secretory phospholipase A2 that is encoded in the genome of human.


endometritis

description: An acute or chronic, usually bacterial infectious process affecting the endometrium. It may extend to the myometrium and parametrial tissues. Symptoms include lower abdominal pain, vaginal discharge, and vaginal bleeding.


8-hydroxyoctanoic acid

An omega-hydroxy fatty acid that is caprylic acid in which one of the hydrogens of the terminal methyl group is replaced by a hydroxy group.


PSPN_HUMAN Persephin (sprot)

A persephin that is encoded in the genome of human.


sulfathiazole

A 1,3-thiazole compound having a 4-aminobenzenesulfonamido group at the 2-position.


familial Mediterranean fever

description: Familial Mediterranean fever (FMF) is an autoinflammatory disorder characterized by recurrent short episodes of fever and serositis resulting in pain in the abdomen, chest, joints and muscles.


mild hemophilia A

description: Mild hemophilia A is a form of hemophilia A characterized by a small deficiency of factor VIII leading to abnormal bleeding as a result of minor injuries, or following surgery or tooth extraction.


name: S5A2_HUMAN 3-oxo-5-alpha-steroid 4-dehydrogenase 2 (sprot)

description: A 3-oxo-5-alpha-steroid 4-dehydrogenase 2 that is encoded in the genome of human.


name: ACV1C_HUMAN Activin receptor type-1C (sprot)

description: An activin receptor type-1C that is encoded in the genome of human.


pyruvic acid

A 2-oxo monocarboxylic acid that is the 2-keto derivative of propionic acid. It is a metabolite obtained during glycolysis.


name: RRAGA_HUMAN Ras-related GTP-binding protein A (sprot)

description: A Ras-related GTP-binding protein A that is encoded in the genome of human.


NOE2_HUMAN Noelin-2 (sprot)

A noelin-2 that is encoded in the genome of human.


name: NDUA5_HUMAN NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 5 (sprot)

description: An NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 5 that is encoded in the genome of human.


name: TMM98_HUMAN Transmembrane protein 98 (sprot)

description: A transmembrane protein 98 that is encoded in the genome of human.


name: GGA3_HUMAN ADP-ribosylation factor-binding protein GGA3 (sprot)

description: An ADP-ribosylation factor-binding protein GGA3 that is encoded in the genome of human.


name: SDHF2_HUMAN Succinate dehydrogenase assembly factor 2, mitochondrial (sprot)

description: A succinate dehydrogenase assembly factor 2, mitochondrial that is encoded in the genome of human.


name: ACHE_HUMAN Acetylcholine receptor subunit epsilon (sprot)

description: An acetylcholine receptor subunit epsilon that is encoded in the genome of human.


hormone-resistant breast carcinoma

description: Breast carcinoma that does not respond to hormone therapy.


name: NRAP_HUMAN Nebulin-related-anchoring protein (sprot)

description: A nebulin-related-anchoring protein that is encoded in the genome of human.


name: K1C17_HUMAN Keratin, type I cytoskeletal 17 (sprot)

description: A keratin, type I cytoskeletal 17 that is encoded in the genome of human.


RNT2_HUMAN Ribonuclease T2 (sprot)

A ribonuclease T2 that is encoded in the genome of human.


multifocal atrial tachycardia

description: Multifocal atrial tachycardia is a rare supraventricular arrhythmia in neonates and young infants that is characterized by multiple P waves with varying P wave morphology and is usually asymptomatic.


focal segmental glomerulosclerosis 1

description: Any focal segmental glomerulosclerosis in which the cause of the disease is a mutation in the ACTN4 gene.


SEM4C_HUMAN Semaphorin-4C (sprot)

A semaphorin-4C that is encoded in the genome of human.


Dystonic gait

description: Dystonic gait disorders frequently appear bizarre, particularly because activity increases dystonic tonus and posture. The abnormal posture of the foot in dystonic gait typically involves inversion, plantar flexion and tonic extension of the big toe. In many patients complex types of walking, such as walking backwards and running are paradoxically less impaired than walking forward and may seem completely unaffected. Sensory tricks, for instance, if the affected individual rests a hand on his or her neck, may improve or even normalize dystonic gait in some patients.


juvenile myelomonocytic leukemia

description: A myelodysplastic/myeloproliferative neoplasm of childhood that is characterized by proliferation principally of the granulocytic and monocytic lineages. Myelomonocytic proliferation is seen in the bone marrow and the blood. The leukemic cells may infiltrate any tissue, however liver, spleen, lymph nodes, skin, and respiratory tract are the most common sites of involvement. (WHO, 2001)


ALCLOMETASONE

A prednisolone compound having an alpha-chloro substituent at the 7-position and an alpha-methyl substituent at the 16-position.


name: DEF3_HUMAN Neutrophil defensin 3 (sprot)

description: A protein that is a translation product of the DEFA3 gene in human.


Q fever

description: A bacterial infection caused by Coxiella burnetii. It is transmitted to humans by the inhalation of infected air particles or contact with fluids and feces of infected animals. Signs and symptoms include the abrupt onset of fever, headache, myalgias, and weakness.


arterial thoracic outlet syndrome

description: Arterial thoracic outlet syndrome (ATOS) is a form of thoracic outlet syndrome (TOS) that presents as unilateral upper extremity ischemia.


name: DPOD4_HUMAN DNA polymerase delta subunit 4 (sprot)

description: A DNA polymerase delta subunit 4 that is encoded in the genome of human.


name: CNPY4_HUMAN Protein canopy homolog 4 (sprot)

description: A protein canopy homolog 4 that is encoded in the genome of human.


name: PO3F4_HUMAN POU domain, class 3, transcription factor 4 (sprot)

description: A POU domain, class 3, transcription factor 4 that is encoded in the genome of human.


CARBOXIN

An anilide obtained by formal condensation of the amino group of aniline with the carboxy group of 2-methyl-5,6-dihydro-1,4-oxathiine-3-carboxylic acid. A fungicide for control of bunts and smuts that is normally used as a seed treatment.


name: FOXI3_HUMAN Forkhead box protein I3 (sprot)

description: A forkhead box protein I3 that is encoded in the genome of human.


sporadic amyotrophic lateral sclerosis

description: Sporadic amyotrophic lateral sclerosis is a amyotrophic lateral sclerosis in which there is no known cause, such as no family history.


name: classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency

description: The most common form of congenital adrenal hyperplasia (CAH), characterized by simple virilizing or salt wasting forms that can manifest with genital ambiguity in females and with adrenal insufficiency (in both sexes), and that presents with dehydration, hypoglycemia in the neonatal period (that can be lethal if untreated), and hyperandrogenia.


name: SNAB_HUMAN Beta-soluble NSF attachment protein (sprot)

description: A beta-soluble NSF attachment protein that is encoded in the genome of human.


Wolfram syndrome 1

description: Any Wolfram syndrome in which the cause of the disease is a mutation in the WFS1 gene.


streptococcal toxic-shock syndrome

description: Streptococcal toxic-shock syndrome (streptococcal TSS) is an acute disease mediated by the production of superantigenic toxins characterized by the sudden onset of fever and other febrile symptoms, pain, multisystem organ involvement and potentially leading to coma, shock and death due to a Streptococcus pyogenes infection.


name: ZBT24_HUMAN Zinc finger and BTB domain-containing protein 24 (sprot)

description: A zinc finger and BTB domain-containing protein 24 that is encoded in the genome of human.


unithiol

An alkanesulfonic acid that is propane-1-sulfonic acid substituted by sulfanyl groups at positions 2 and 3.


name: VRK2_HUMAN Serine/threonine-protein kinase VRK2 (sprot)

description: A serine/threonine-protein kinase VRK2 that is encoded in the genome of human.


bisantrene

A hydrazone resulting from the formal condensation of both of the aldehyde groups of anthracene-9,10-dicarbaldehyde with 2-hydrazinyl-4,5-dihydro-1H-imidazole.


name: TIM8A_HUMAN Mitochondrial import inner membrane translocase subunit Tim8 A (sprot)

description: A mitochondrial import inner membrane translocase subunit Tim8 A that is encoded in the genome of human.


name: PA1B3_HUMAN Platelet-activating factor acetylhydrolase IB subunit alpha1 (sprot)

description: A platelet-activating factor acetylhydrolase IB subunit alpha1 that is encoded in the genome of human.


name: LIS1_HUMAN Platelet-activating factor acetylhydrolase IB subunit beta (sprot)

description: A platelet-activating factor acetylhydrolase IB subunit beta that is encoded in the genome of human.


CBPA1_HUMAN Carboxypeptidase A1 (sprot)

A carboxypeptidase A1 that is encoded in the genome of human.


dermoid cyst

description: A mature teratoma characterized by the presence of a cyst which is lined by mature tissue resembling the epidermis and the epidermal appendages. It occurs in the ovary, testis, and extragonadal sites including central nervous system and skin.


sporadic breast cancer

description: A carcinoma that arises from the breast and is not caused by inherited genetic mutations.


name: RM19_HUMAN Large ribosomal subunit protein bL19m (sprot)

description: A large ribosomal subunit protein bL19m that is encoded in the genome of human.


FBX7_HUMAN F-box only protein 7 (sprot)

An F-box only protein 7 that is encoded in the genome of human.


name: MK13_HUMAN Mitogen-activated protein kinase 13 (sprot)

description: A mitogen-activated protein kinase 13 that is encoded in the genome of human.


name: UBR2_HUMAN E3 ubiquitin-protein ligase UBR2 (sprot)

description: An E3 ubiquitin-protein ligase UBR2 that is encoded in the genome of human.


name: ULBP3_HUMAN UL16-binding protein 3 (sprot)

description: A UL16-binding protein 3 that is encoded in the genome of human.


FETA_HUMAN Alpha-fetoprotein (sprot)

An alpha-fetoprotein that is encoded in the genome of human.


name: TOM70_HUMAN Mitochondrial import receptor subunit TOM70 (sprot)

description: A mitochondrial import receptor subunit TOM70 that is encoded in the genome of human.


tenuazonic acid

A member of the class of pyrrolidin-2-ones that is 5-(butan-2-yl)pyrrolidine-2,4-dione carrying an additional acetyl group at position 3. A mycotoxin produced by various plant pathogenic fungi.


name: HRG1_HUMAN Heme transporter HRG1 (sprot)

description: A heme transporter HRG1 that is encoded in the genome of human.


name: HRG_HUMAN Histidine-rich glycoprotein (sprot)

description: A histidine-rich glycoprotein that is encoded in the genome of human.


name: TPPC4_HUMAN Trafficking protein particle complex subunit 4 (sprot)

description: A trafficking protein particle complex subunit 4 that is encoded in the genome of human.


RUBROFUSARIN

A member of the class of benzochromenones that is benzo[g]chromen-4-one carrying two additional hydroxy substituents at positions 5 and 6 as well as methyl and methoxy substituents at positions 2 and 8 respectively. An orange polyketide pigment that is a common intermediate in many different fungal biosynthetic pathways.


CSTN2_HUMAN Calsyntenin-2 (sprot)

A calsyntenin-2 that is encoded in the genome of human.


name: KAT6A_HUMAN Histone acetyltransferase KAT6A (sprot)

description: A histone acetyltransferase KAT6A that is encoded in the genome of human.


name: CBY1_HUMAN Protein chibby homolog 1 (sprot)

description: A protein chibby homolog 1 that is encoded in the genome of human.


An organic heterotricyclic compound that is pyrido[3',2':4,5]furo[3,2-d]pyrimidine substituted at positions 2 and 4 by 3-hydroxyphenyl and morpholin-4-yl groups respectively. A dual-kinase inhibitor with anti-cancer properties.


ariboflavinosis

description: A dietary deficiency of riboflavin causing a syndrome chiefly marked by cheilitis, angular stomatitis, glossitis associated with a purplish red or magenta-colored tongue that may show fissures, corneal vascularization, dyssebacia, and anemia. (Dorland, 27th ed)


name: SDHA_HUMAN Succinate dehydrogenase [ubiquinone] flavoprotein subunit, mitochondrial (sprot)

description: A succinate dehydrogenase [ubiquinone] flavoprotein subunit, mitochondrial that is encoded in the genome of human.


Myhre syndrome

description: Myhre syndrome is characterized by striking muscular build, short stature, reduced joint mobility, brachydactyly, mixed hearing loss and mental retardation of variable severity. Facial dysmorphism with short palpebral fissures, short philtrum, thin lips, maxillary hypoplasia and prognathism is present. Thick skin has been observed in six patients.


name: SRS11_HUMAN Serine/arginine-rich splicing factor 11 (sprot)

description: A serine/arginine-rich splicing factor 11 that is encoded in the genome of human.


FINGOLIMOD HYDROCHLORIDE

The hydrochloride salt of 2-amino-2-[2-(4-octylphenyl) ethyl]-1,3-propanediol (fingolimod).


name: MTCH1_HUMAN Mitochondrial carrier homolog 1 (sprot)

description: A mitochondrial carrier homolog 1 that is encoded in the genome of human.


name: PLPR4_HUMAN Phospholipid phosphatase-related protein type 4 (sprot)

description: A phospholipid phosphatase-related protein type 4 that is encoded in the genome of human.


name: TBG1_HUMAN Tubulin gamma-1 chain (sprot)

description: A tubulin gamma-1 chain that is encoded in the genome of human.


name: TBG2_HUMAN Tubulin gamma-2 chain (sprot)

description: A tubulin gamma-2 chain that is encoded in the genome of human.


beauvericin

A trimeric cyclodepsipeptide composed from alternating methylphenylalanyl and hydroxyvaleryl residues.


name: CTDP1_HUMAN RNA polymerase II subunit A C-terminal domain phosphatase (sprot)

description: An RNA polymerase II subunit A C-terminal domain phosphatase that is encoded in the genome of human.


name: ANR23_HUMAN Ankyrin repeat domain-containing protein 23 (sprot)

description: An ankyrin repeat domain-containing protein 23 that is encoded in the genome of human.