epalrestat

A monocarboxylic acid that is 1,3-thiazolidine which is substituted on the nitrogen by a carboxymethyl group, at positions 2 and 4 by thioxo and oxo groups, respectively, and at position 5 by a 2-methyl-3-phenylprop-2-en-1-ylidene group. It is an inhibitor of aldose reductase (which catalyses the conversion of glucose to sorbitol) and is used for the treatment of some diabetic complications, including neuropathy.


name: chronic relapsing inflammatory optic neuropathy

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

description: A rare inflammatory optic neuropathy characterized by severe and persistent pain followed by subacute visual loss, a relapsing-remitting course, and steroid-dependence. Involvement of both optic nerves is common and is usually sequential. Serum antibodies against aquaporin 4 are absent in most cases. Magnetic resonance imaging shows contrast enhancement of the acutely inflamed optic nerves.


A 1,2-diacyl-sn-glycerol in which the acyl groups at positions 1 and 2 are specified as oleoyl.


short QT syndrome type 1

description: Any short QT syndrome in which the cause of the disease is a mutation in the KCNH2 gene.


name: DLX3_HUMAN Homeobox protein DLX-3 (sprot)

description: A homeobox protein DLX-3 that is encoded in the genome of human.


DEHYDROABIETIC ACID

An abietane diterpenoid that is abieta-8,11,13-triene substituted at position 18 by a carboxy group.


name: CTSR2_HUMAN Cation channel sperm-associated protein 2 (sprot)

description: A cation channel sperm-associated protein 2 that is encoded in the genome of human.


name: GTP cyclohydrolase I deficiency with hyperphenylalaninemia

description: An autosomal recessive condition caused by mutation(s) in the GCH1 gene, encoding GTP cyclohydrolase 1. It is characterized by hyperphenylalaninemia and GTP cyclohydrolase 1-deficient dopa-responsive dystonia.


name: LPAR5_HUMAN Lysophosphatidic acid receptor 5 (sprot)

description: A lysophosphatidic acid receptor 5 that is encoded in the genome of human.


name: CLIC3_HUMAN Chloride intracellular channel protein 3 (sprot)

description: A chloride intracellular channel protein 3 that is encoded in the genome of human.


name: ABRA_HUMAN Actin-binding Rho-activating protein (sprot)

description: An actin-binding Rho-activating protein that is encoded in the genome of human.


motor peripheral neuropathy

description: Inflammation or degeneration of the peripheral motor nerves.


name: ABCD2_HUMAN ATP-binding cassette sub-family D member 2 (sprot)

description: An ATP-binding cassette sub-family D member 2 that is encoded in the genome of human.


name: EKI1_HUMAN Ethanolamine kinase 1 (sprot)

description: An ethanolamine kinase 1 that is encoded in the genome of human.


hepatic coma

description: A syndrome characterized by central nervous system dysfunction in association with liver failure, including portal-systemic shunts. Clinical features include lethargy and confusion (frequently progressing to coma); asterixis; nystagmus, pathologic; brisk oculovestibular reflexes; decorticate and decerebrate posturing; muscle spasticity; and bilateral extensor plantar reflexes (see reflex, babinski). electroencephalography may demonstrate triphasic waves. (From Adams et al., Principles of Neurology, 6th ed, pp1117-20; Plum & Posner, Diagnosis of Stupor and Coma, 3rd ed, p222-5)


name: STAR8_HUMAN StAR-related lipid transfer protein 8 (sprot)

description: A StAR-related lipid transfer protein 8 that is encoded in the genome of human.


THERACYS

A  benzoate ester metabolite of cocaine formed by hydrolysis of the methyl ester group, catalysed by carboxylesterases.


tenoxicam

A thienothiazine-derived monocarboxylic acid amide obtained by formal condensation of the carboxy group of 4-hydroxy-2-methylthieno[2,3-e][1,2]thiazine-3-carboxylic acid 1,1-dioxide with the amino group of 2-aminopyridine.  Used for the treatment of pain and inflammation in osteoarthritis and rheumatoid arthritis. It is also indicated for short term treatment of acute musculoskeletal disorders including strains, sprains and other soft-tissue injuries.


name: DDX21_HUMAN Nucleolar RNA helicase 2 (sprot)

description: A nucleolar RNA helicase 2 that is encoded in the genome of human.


name: MAST2_HUMAN Microtubule-associated serine/threonine-protein kinase 2 (sprot)

description: A microtubule-associated serine/threonine-protein kinase 2 that is encoded in the genome of human.


name: SFTA2_HUMAN Surfactant-associated protein 2 (sprot)

description: A surfactant-associated protein 2 that is encoded in the genome of human.


name: BAHD1_HUMAN Bromo adjacent homology domain-containing 1 protein (sprot)

description: A bromo adjacent homology domain-containing 1 protein that is encoded in the genome of human.


phosphatidylcholine (14:0/16:1)

A phosphatidylcholine 30:1 in which the fatty acyl groups at positions 1 and 2 are specified as C14:0 and C16:1 respectively.


name: LRA25_HUMAN Leucine repeat adapter protein 25 (sprot)

description: A leucine repeat adapter protein 25 that is encoded in the genome of human.


name: FGF18_HUMAN Fibroblast growth factor 18 (sprot)

description: A fibroblast growth factor 18 that is encoded in the genome of human.


name: GTR12_HUMAN Solute carrier family 2, facilitated glucose transporter member 12 (sprot)

description: A solute carrier family 2, facilitated glucose transporter member 12 that is encoded in the genome of human.


(S)-warfarin

A 4-hydroxy-3-(3-oxo-1-phenylbutyl)-2H-1-benzopyran-2-one that has (S)-configuration (the racemate is warfarin, an anticoagulant drug and rodenticide).


INVS_HUMAN Inversin (sprot)

An inversin that is encoded in the genome of human.


name: COASY_HUMAN Bifunctional coenzyme A synthase (sprot)

description: A bifunctional coenzyme A synthase that is encoded in the genome of human.


carbaryl

A carbamate ester obtained by the formal condensation of  1-naphthol with methylcarbamic acid.


name: 1A1L1_HUMAN 1-aminocyclopropane-1-carboxylate synthase-like protein 1 (sprot)

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


name: PHAG1_HUMAN Phosphoprotein associated with glycosphingolipid-enriched microdomains 1 (sprot)

description: A phosphoprotein associated with glycosphingolipid-enriched microdomains 1 that is encoded in the genome of human.


name: APOH_HUMAN Beta-2-glycoprotein 1 (sprot)

description: A beta-2-glycoprotein 1 that is encoded in the genome of human.


ischemic disease

description: Lack of blood supply to an area of the body, resulting in impairment of tissue oxygenation.


MDN1_HUMAN Midasin (sprot)

A midasin that is encoded in the genome of human.


name: cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome


name: LMX1A_HUMAN LIM homeobox transcription factor 1-alpha (sprot)

description: A LIM homeobox transcription factor 1-alpha that is encoded in the genome of human.


name: GRM4_HUMAN Metabotropic glutamate receptor 4 (sprot)

description: A metabotropic glutamate receptor 4 that is encoded in the genome of human.


CCNI2_HUMAN Cyclin-I2 (sprot)

A cyclin-I2 that is encoded in the genome of human.


nicotinyl methylamide

A pyridinecarboxamide that is nicotinamide in which one of the amide hydrogens is substituted by a methyl group.


glycohyocholic acid

A bile acid glycine conjugate having hyocholic acid as the bile acid component.


name: SYCP2_HUMAN Synaptonemal complex protein 2 (sprot)

description: A synaptonemal complex protein 2 that is encoded in the genome of human.


name: VEZF1_HUMAN Vascular endothelial zinc finger 1 (sprot)

description: A vascular endothelial zinc finger 1 that is encoded in the genome of human.


SWAP1_HUMAN ATPase SWSAP1 (sprot)

An ATPase SWSAP1 that is encoded in the genome of human.


PFD5_HUMAN Prefoldin subunit 5 (sprot)

A prefoldin subunit 5 that is encoded in the genome of human.


ZEARALENONE

A macrolide comprising a fourteen-membered lactone fused to 1,3-dihydroxybenzene; a potent estrogenic metabolite produced by some Giberella species.


name: BAG1_HUMAN BAG family molecular chaperone regulator 1 (sprot)

description: A BAG family molecular chaperone regulator 1 that is encoded in the genome of human.


name: KI2L2_HUMAN Killer cell immunoglobulin-like receptor 2DL2 (sprot)

description: A killer cell immunoglobulin-like receptor 2DL2 that is encoded in the genome of human.


DOP1_HUMAN Protein dopey-1 (sprot)

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


apocrine adenocarcinoma

description: A carcinoma with apocrine differentiation arising from the sweat glands. It presents as single or multiple nodular lesions which may be ulcerated or hemorrhagic and is usually in the axilla and less often in the anogenital region. It grows in the dermis and infiltrates subcutaneous tissues. It is characterized by the presence of large cells with abundant eosinophilic cytoplasm and large often vesicular nuclei. Most cases are slow growing tumors and have a prolonged course.


eosinophilic fasciitis

description: Eosinophilic fasciitis is a rare connective tissue disease that is characterized by inflammation and thickening of the fascia, usually associated with peripheral eosinophilia. It presents during adulthood with symmetrical and painful swelling of mainly the extremities that progressively become indurated. Fatigue, disabling cutaneous fibrosis, myositis and arthritis may also be observed.


name: MYO5C_HUMAN Unconventional myosin-Vc (sprot)

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


name: CDKA1_HUMAN Cyclin-dependent kinase 2-associated protein 1 (sprot)

description: A cyclin-dependent kinase 2-associated protein 1 that is encoded in the genome of human.


T-cell and NK-cell neoplasm

description: A group of neoplasms composed of T-lymphocytes and/or NK-cells.


BROMHEXINE HYDROCHLORIDE

A hydrochloride resulting from the reaction of equimolar amounts of bromhexine and hydrogen chloride. It is used as a mucolytic for the treatment of respiratory disorders associated with productive cough (i.e. a cough characterised by the production of sputum).


name: PLCG2_HUMAN 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase gamma-2 (sprot)

description: A 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase gamma-2 that is encoded in the genome of human.


name: LIN7A_HUMAN Protein lin-7 homolog A (sprot)

description: A protein lin-7 homolog A that is encoded in the genome of human.


name: BAIP2_HUMAN BAR/IMD domain-containing adapter protein 2 (sprot)

description: A brain-specific angiogenesis inhibitor 1-associated protein 2 that is encoded in the genome of human.


name: B3A2_HUMAN Anion exchange protein 2 (sprot)

description: An anion exchange protein 2 that is encoded in the genome of human.


STX4_HUMAN Syntaxin-4 (sprot)

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


name: CSTFT_HUMAN Cleavage stimulation factor subunit 2 tau variant (sprot)

description: A cleavage stimulation factor subunit 2 tau variant that is encoded in the genome of human.


name: RL37_HUMAN Large ribosomal subunit protein eL37 (sprot)

description: A large ribosomal subunit protein eL37 that is encoded in the genome of human.


Adrenal hyperplasia

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

description: Enlargement of the adrenal gland.


name: NAA80_HUMAN N-alpha-acetyltransferase 80 (sprot)

description: An N-alpha-acetyltransferase 80 that is encoded in the genome of human.


name: breast fibrocystic change, proliferative type

description: Breast fibrocystic change characterized by the presence of epithelial cell hyperplasia. Epithelial atypia may be present or absent.


name: SO2A1_HUMAN Solute carrier organic anion transporter family member 2A1 (sprot)

description: A solute carrier organic anion transporter family member 2A1 that is encoded in the genome of human.


ACYP2_HUMAN Acylphosphatase-2 (sprot)

An acylphosphatase-2 that is encoded in the genome of human.


DSC3_HUMAN Desmocollin-3 (sprot)

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


name: TTF2_HUMAN Transcription termination factor 2 (sprot)

description: A transcription termination factor 2 that is encoded in the genome of human.


name: acquired thrombotic thrombocytopenic purpura

description: Acquired thrombotic thrombocytopenic purpura is the non-hereditary form of thrombotic thrombocytopenic purpura (TTP), characterized by profound peripheral thrombocytopenia, microangiopathic hemolytic anemia (MAHA) and single or multiple organ failure of variable severity.


name: KNL1_HUMAN Kinetochore scaffold 1 (sprot)

description: A kinetochore scaffold 1 that is encoded in the genome of human.


name: C42S1_HUMAN CDC42 small effector protein 1 (sprot)

description: A CDC42 small effector protein 1 that is encoded in the genome of human.


SEPT9_HUMAN Septin-9 (sprot)

A septin-9 that is encoded in the genome of human.


name: ATOX1_HUMAN Copper transport protein ATOX1 (sprot)

description: A copper transport protein ATOX1 that is encoded in the genome of human.


name: DDAH1_HUMAN N(G),N(G)-dimethylarginine dimethylaminohydrolase 1 (sprot)

description: An N(G),N(G)-dimethylarginine dimethylaminohydrolase 1 that is encoded in the genome of human.


interstitial lung disease 2

description: A nonneoplastic pulmonary disease that is characterized by the formation of scar tissue within the lungs in the absence of any known cause.


LOVASTATIN ACID

A polyketide obtained by hydrolysis of the pyranone ring of lovastatin.


sulfamethizole

A sulfonamide consisting of a 1,3,4-thiadiazole nucleus with a methyl substituent at C-5 and a 4-aminobenzenesulfonamido group at C-2.


name: PPL13_HUMAN Placental protein 13-like (sprot)

description: A placental protein 13-like that is encoded in the genome of human.


name: TMEDA_HUMAN Transmembrane emp24 domain-containing protein 10 (sprot)

description: A transmembrane emp24 domain-containing protein 10 that is encoded in the genome of human.


histiocytic sarcoma

description: An aggressive malignant neoplasm with a poor response to therapy, usually presenting as stage III/IV disease. It is characterized by the presence of neoplastic cells with morphologic and immunophenotypic characteristics similar to those seen in mature histiocytes.


name: TS1R3_HUMAN Taste receptor type 1 member 3 (sprot)

description: A taste receptor type 1 member 3 that is encoded in the genome of human.


name: STAU1_HUMAN Double-stranded RNA-binding protein Staufen homolog 1 (sprot)

description: A double-stranded RNA-binding protein Staufen homolog 1 that is encoded in the genome of human.


name: CAC1S_HUMAN Voltage-dependent L-type calcium channel subunit alpha-1S (sprot)

description: A voltage-dependent L-type calcium channel subunit alpha-1S that is encoded in the genome of human.


name: MOT7_HUMAN Monocarboxylate transporter 7 (sprot)

description: A monocarboxylate transporter 7 that is encoded in the genome of human.


name: SMYD1_HUMAN Histone-lysine N-methyltransferase SMYD1 (sprot)

description: A histone-lysine N-methyltransferase SMYD1 that is encoded in the genome of human.


name: NUDC_HUMAN Nuclear migration protein nudC (sprot)

description: A nuclear migration protein nudC that is encoded in the genome of human.


name: RLA2_HUMAN Large ribosomal subunit protein P2 (sprot)

description: A large ribosomal subunit protein P2 that is encoded in the genome of human.


name: NLRC3_HUMAN NLR family CARD domain-containing protein 3 (sprot)

description: An NLR family CARD domain-containing protein 3 that is encoded in the genome of human.


intraocular lymphoma

description: A lymphoma that arises within the eye. Signs and symptoms include decreased vision, uveitis, and vitreous floaters.


MYOF_HUMAN Myoferlin (sprot)

A myoferlin that is encoded in the genome of human.


name: MRT4_HUMAN mRNA turnover protein 4 homolog (sprot)

description: An mRNA turnover protein 4 that is encoded in the genome of human.


name: RECQ1_HUMAN ATP-dependent DNA helicase Q1 (sprot)

description: An ATP-dependent DNA helicase Q1 that is encoded in the genome of human.


name: TM11B_HUMAN Transmembrane protease serine 11B (sprot)

description: A transmembrane protease serine 11B that is encoded in the genome of human.


A divalent inorganic anion obtained by removal of both protons from diphosphonic acid.


name: PRAP1_HUMAN Proline-rich acidic protein 1 (sprot)

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


name: MARE3_HUMAN Microtubule-associated protein RP/EB family member 3 (sprot)

description: A microtubule-associated protein RP/EB family member 3 that is encoded in the genome of human.


name: PADI3_HUMAN Protein-arginine deiminase type-3 (sprot)

description: A protein-arginine deiminase type-3 that is encoded in the genome of human.


dystocia

description: Slow or difficult obstetric labor or childbirth.


coronary thrombosis

description: Coagulation of blood in any of the coronary vessels. The presence of a blood clot (thrombus) often leads to myocardial infarction.


name: MAFB_HUMAN Transcription factor MafB (sprot)

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


name: MTR1B_HUMAN Melatonin receptor type 1B (sprot)

description: A melatonin receptor type 1B that is encoded in the genome of human.


phosphatidylcholine (17:1/18:1)

A phosphatidylcholine 35:2 in which the fatty acyl groups at positions 1 and 2 are specified as C17:1 and C18:1 respectively.


H31_HUMAN Histone H3.1 (sprot)

A histone H3 that is a translation product of any of the following genes in human: HIST1H3A/HIST1H3B/HIST1H3C/HIST1H3D/HIST1H3E/HIST1H3F/HIST1H3G/HIST1H3H/HIST1H3I/HIST1H3J.


centronuclear myopathy

description: Centronuclear myopathy (CNM) is an inherited neuromuscular disorder characterized by clinical features of a congenital myopathy and centrally placed nuclei on muscle biopsy.


name: LIRA4_HUMAN Leukocyte immunoglobulin-like receptor subfamily A member 4 (sprot)

description: A leukocyte immunoglobulin-like receptor subfamily A member 4 that is encoded in the genome of human.


name: very long chain acyl-CoA dehydrogenase deficiency

description: An inherited disorder of mitochondrial long-chain fatty acid oxidation with a variable presentation including: cardiomyopathy, hypoketotic hypoglycemia, liver disease, exercise intolerance and rhabdomyolysis.


craniopharyngioma

description: A benign, partly cystic, epithelial tumor of the sellar region, presumably derived from Rathke pouch epithelium. It affects mainly children and young adults. There are two clinicopathological forms: adamantinomatous craniopharyngioma and papillary craniopharyngioma. The most significant factor associated with recurrence is the extent of surgical resection, with lesions greater than 5 cm in diameter carrying a markedly worse prognosis. (Adapted from WHO)


name: NXT1_HUMAN NTF2-related export protein 1 (sprot)

description: An NTF2-related export protein 1 that is encoded in the genome of human.


DET1_HUMAN DET1 homolog (sprot)

A CDD complex component DET1 that is encoded in the genome of human.


PROF4_HUMAN Profilin-4 (sprot)

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


OPN4_HUMAN Melanopsin (sprot)

A melanopsin that is encoded in the genome of human.


ocular melanoma

description: A melanoma that arises from the structures of the eye or ocular adnexa.


name: ARHGC_HUMAN Rho guanine nucleotide exchange factor 12 (sprot)

description: A Rho guanine nucleotide exchange factor 12 that is encoded in the genome of human.


name: LRRC7_HUMAN Leucine-rich repeat-containing protein 7 (sprot)

description: A leucine-rich repeat-containing protein 7 that is encoded in the genome of human.


name: DEN5A_HUMAN DENN domain-containing protein 5A (sprot)

description: A DENN domain-containing protein 5A that is encoded in the genome of human.


name: RAB6A_HUMAN Ras-related protein Rab-6A (sprot)

description: A Ras-related protein Rab-6A that is encoded in the genome of human.


PIWL3_HUMAN Piwi-like protein 3 (sprot)

A piwi-like protein 3 that is encoded in the genome of human.


name: RBM24_HUMAN RNA-binding protein 24 (sprot)

description: An RNA-binding protein 24 that is encoded in the genome of human.


name: MCHR2_HUMAN Melanin-concentrating hormone receptor 2 (sprot)

description: A melanin-concentrating hormone receptor 2 that is encoded in the genome of human.


dimethyltryptamine

A tryptamine derivative having two N-methyl substituents on the side-chain.


name: TVA21_HUMAN T cell receptor alpha variable 21 (sprot)

description: A protein that is a translation product of the TRAV21 gene in human.


name: P66A_HUMAN Transcriptional repressor p66-alpha (sprot)

description: A transcriptional repressor p66-alpha that is encoded in the genome of human.


name: MED13_HUMAN Mediator of RNA polymerase II transcription subunit 13 (sprot)

description: A mediator of RNA polymerase II transcription subunit 13 that is encoded in the genome of human.


name: GDF10_HUMAN Growth/differentiation factor 10 (sprot)

description: A bone morphogenetic protein 3B that is encoded in the genome of human.


name: DUS26_HUMAN Dual specificity protein phosphatase 26 (sprot)

description: A dual specificity protein phosphatase 26 that is encoded in the genome of human.


name: AGRF5_HUMAN Adhesion G protein-coupled receptor F5 (sprot)

description: An adhesion G protein-coupled receptor F5 that is encoded in the genome of human.


corpus callosum, agenesis of

description: A congenital abnormality characterized by the complete absence of the corpus callosum. It may be an isolated abnormality or associated with other central nervous system abnormalities or syndromes. Clinical manifestations vary. In cases of isolated corpus callosum agenesis, symptoms may be absent or minimal. In cases that are associated with other central nervous system abnormalities or syndromes, symptoms include developmental delays, motor coordination difficulties, and vision impairment.


MAGNESIUM CARBONATE

A magnesium salt with formula CMgO3. Its hydrated forms, particularly the di-, tri-, and tetrahydrates occur as minerals.


name: MARH3_HUMAN E3 ubiquitin-protein ligase MARCHF3 (sprot)

description: An E3 ubiquitin-protein ligase MARCHF3 that is encoded in the genome of human.


bronchitis

description: An acute or chronic inflammatory process affecting the bronchi.


name: BT1A1_HUMAN Butyrophilin subfamily 1 member A1 (sprot)

description: A butyrophilin subfamily 1 member A1 that is encoded in the genome of human.


name: MYCB2_HUMAN E3 ubiquitin-protein ligase MYCBP2 (sprot)

description: An E3 ubiquitin-protein ligase MYCBP2 that is encoded in the genome of human.


name: ACADS_HUMAN Short-chain specific acyl-CoA dehydrogenase, mitochondrial (sprot)

description: A short-chain specific acyl-CoA dehydrogenase, mitochondrial that is encoded in the genome of human.


Hypocholesterolemia

description: An decreased concentration of cholesterol in the blood.


name: NRAM2_HUMAN Natural resistance-associated macrophage protein 2 (sprot)

description: A natural resistance-associated macrophage protein 2 that is encoded in the genome of human.


name: Z512B_HUMAN Zinc finger protein 512B (sprot)

description: A zinc finger protein 512B that is encoded in the genome of human.


name: KLHL7_HUMAN Kelch-like protein 7 (sprot)

description: A kelch-like protein 7 that is encoded in the genome of human.


thyroid tumor

description: A benign or malignant neoplasm affecting the thyroid gland.


name: SMRD1_HUMAN SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily D member 1 (sprot)

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


Unconjugated hyperbilirubinemia

description: An increased amount of unconjugated (indirect) bilurubin in the blood.


name: SFRP3_HUMAN Secreted frizzled-related protein 3 (sprot)

description: A secreted frizzled-related protein 3 that is encoded in the genome of human.


FAT4_HUMAN Protocadherin Fat 4 (sprot)

A protocadherin Fat 4 that is encoded in the genome of human.


name: ING2_HUMAN Inhibitor of growth protein 2 (sprot)

description: An inhibitor of growth protein 2 that is encoded in the genome of human.


SPR1A_HUMAN Cornifin-A (sprot)

A cornifin-A that is encoded in the genome of human.


SNX6_HUMAN Sorting nexin-6 (sprot)

A sorting nexin-6 that is encoded in the genome of human.


Hyperinsulinemic hypoglycemia

description: An increased concentration of insulin combined with a decreased concentration of glucose in the blood.


Abnormal optic nerve morphology

description: Abnormality of the optic nerve.


perflubutane

A fluorocarbon that is butane in which all of the hydrogens have been replaced by fluorines. Microbubbles of preflubutane are used in the ultrasound contrast agent BR14.


Kluver-Bucy syndrome

description: Kluver Bucy syndrome is a rare behavioral impairment characterized by inappropriate sexual behaviors and mouthing of objects. Other signs and symptoms include diminished ability to visually recognize objects,loss of normal fear and anger responses, memory loss, distractibility, seizures, and dementia. It is associated with damage to the anterior temporal lobes of the brain. Cases have been reported in association with herpes encephalitis and head trauma. Treatment is symptomatic and may include the use of psychotropic medications.


name: CEAM7_HUMAN Carcinoembryonic antigen-related cell adhesion molecule 7 (sprot)

description: A carcinoembryonic antigen-related cell adhesion molecule 7 that is encoded in the genome of human.


name: TBA1A_HUMAN Tubulin alpha-1A chain (sprot)

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


name: PLCD4_HUMAN 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase delta-4 (sprot)

description: A 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase delta-4 that is encoded in the genome of human.


LMNB1_HUMAN Lamin-B1 (sprot)

A lamin-B1 that is encoded in the genome of human.


TEKT2_HUMAN Tektin-2 (sprot)

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


name: ATX3L_HUMAN Ataxin-3-like protein (sprot)

description: A protein that is a translation product of the ATXN3L gene in human.


name: pineal parenchymal tumor of intermediate differentiation

description: A WHO grade II or III pineal parenchymal neoplasm of intermediate-grade malignancy, affecting all ages. It is composed of diffuse sheets or large lobules of uniform cells with mild to moderate nuclear atypia and low to moderate level mitotic activity. (Adapted from WHO)


name: S52A3_HUMAN Solute carrier family 52, riboflavin transporter, member 3 (sprot)

description: A solute carrier family 52, riboflavin transporter, member 3 that is encoded in the genome of human.


name: ILF2_HUMAN Interleukin enhancer-binding factor 2 (sprot)

description: An interleukin enhancer-binding factor 2 that is encoded in the genome of human.


name: NUP93_HUMAN Nuclear pore complex protein Nup93 (sprot)

description: A nuclear pore complex protein Nup93 that is encoded in the genome of human.


name: PAFA2_HUMAN Platelet-activating factor acetylhydrolase 2, cytoplasmic (sprot)

description: A platelet-activating factor acetylhydrolase 2, cytoplasmic that is encoded in the genome of human.


L-m-tyrosine

A hydroxyphenylalanine that is L-phenylalanine with a substituent hydroxy group at position 3.


crisaborole

A member of the class of benzoxaboroles that is 5-hydroxy-1,3-dihydro-2,1-benzoxaborole in which the phenolic hydrogen has been replaced by a 4-cyanophenyl group. A phosphodiesterase 4 inhibitor that is used for treatment of mild to moderate atopic dermatitis in children and adults.


podoconiosis

description: A disease of the lymphatic vessels of the lower extremities that is caused by chronic exposure to irritant soils.


name: primary pigmented nodular adrenocortical disease

description: A form of bilateral adrenocortical hyperplasia that is often associated with adrenocorticotrophin hormone (ACTH) independent Cushing syndrome and is characterized by small to normal sized adrenal glands containing multiple small cortical pigmented nodules (less than 1 cm in diameter).


PROM2_HUMAN Prominin-2 (sprot)

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


name: GPR33_HUMAN Probable G-protein coupled receptor 33 (sprot)

description: A probable G-protein coupled receptor 33 that is encoded in the genome of human.


name: GABR2_HUMAN Gamma-aminobutyric acid type B receptor subunit 2 (sprot)

description: A gamma-aminobutyric acid type B receptor subunit 2 that is encoded in the genome of human.


SCIN_HUMAN Scinderin (sprot)

A scinderin that is encoded in the genome of human.


cortisone reductase deficiency

description: A disorder in which there is a failure to regenerate the active glucocorticoid cortisol from cortisone via 11beta-HSD1. The resulting lack of cortisol regeneration stimulates ACTH-mediated adrenal hyperandrogenism, with males manifesting in childhood with precocious pseudopuberty and females presenting in adolescence and early adulthood with hirsutism, oligoamenorrhea, and infertility.


name: ACTH_HUMAN Actin, gamma-enteric smooth muscle (sprot)

description: An actin, gamma-enteric smooth muscle that is encoded in the genome of human.


name: UBP4_HUMAN Ubiquitin carboxyl-terminal hydrolase 4 (sprot)

description: A ubiquitin carboxyl-terminal hydrolase 4 that is encoded in the genome of human.


name: SIAT1_HUMAN Beta-galactoside alpha-2,6-sialyltransferase 1 (sprot)

description: A beta-galactoside alpha-2,6-sialyltransferase 1 that is encoded in the genome of human.


JUGLONE

A hydroxy-1,4-naphthoquinone that is 1,4-naphthoquinone in which the hydrogen at position 5 has been replaced by a hydroxy group. A plant-derived 1,4-naphthoquinone with confirmed antibacterial and antitumor activities.


name: IMP2L_HUMAN Mitochondrial inner membrane protease subunit 2 (sprot)

description: A mitochondrial inner membrane protease subunit 2 that is encoded in the genome of human.


name: HLAA_HUMAN HLA class I histocompatibility antigen, A alpha chain (sprot)

description: An MHC class I histocompatibility antigen A alpha chain that is encoded in the genome of human.


name: KIF11_HUMAN Kinesin-like protein KIF11 (sprot)

description: A kinesin-like protein KIF11 that is encoded in the genome of human.


name: KIF14_HUMAN Kinesin-like protein KIF14 (sprot)

description: A kinesin-like protein KIF14 that is encoded in the genome of human.


TROP_HUMAN Trophinin (sprot)

A trophinin that is encoded in the genome of human.


SMTN_HUMAN Smoothelin (sprot)

A smoothelin that is encoded in the genome of human.


description: This subgroup of myeloproliferative neoplasms includes cases which do not meet the morphologic criteria of any of the defined myeloproliferative neoplasms, or which have characteristics that overlap at least two of the myeloproliferative neoplasms.


name: RPGP1_HUMAN Rap1 GTPase-activating protein 1 (sprot)

description: A Rap1 GTPase-activating protein 1 that is encoded in the genome of human.


name: MEX3D_HUMAN RNA-binding protein MEX3D (sprot)

description: An RNA-binding protein MEX3D that is encoded in the genome of human.


name: ST17A_HUMAN Serine/threonine-protein kinase 17A (sprot)

description: A serine/threonine-protein kinase 17A that is encoded in the genome of human.


name: anomalous left coronary artery from the pulmonary artery

description: A congenital coronary vessel anomaly in which the left main coronary artery originates from the pulmonary artery instead of from aorta. The congenital heart defect typically results in coronary artery fistula; left-sided heart failure and mitral valve insufficiency during the first months of life.


CTRC_HUMAN Chymotrypsin-C (sprot)

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


phlebitis

description: Inflammation of a vein.


name: GPX5_HUMAN Epididymal secretory glutathione peroxidase (sprot)

description: An epididymal secretory glutathione peroxidase that is encoded in the genome of human.


ETHYLBENZENE

An  alkylbenzene carrying an ethyl substituent. It is a constituent of coal tar and petroleum.


name: MUC18_HUMAN Cell surface glycoprotein MUC18 (sprot)

description: A cell surface glycoprotein MUC18 that is encoded in the genome of human.


hormone-resistant prostate carcinoma

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


name: S15A4_HUMAN Solute carrier family 15 member 4 (sprot)

description: A solute carrier family 15 member 4 that is encoded in the genome of human.


NID1_HUMAN Nidogen-1 (sprot)

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


name: YLAT2_HUMAN Y+L amino acid transporter 2 (sprot)

description: A Y+L amino acid transporter 2 that is encoded in the genome of human.


name: RDH16_HUMAN Retinol dehydrogenase 16 (sprot)

description: A retinol dehydrogenase 16 that is encoded in the genome of human.


loxoprofen

A monocarboxylic acid that is propionic acid in which one of the hydrogens at position 2 is substituted by a 4-[(2-oxocyclopentyl)methyl]phenyl group. A prodrug that is rapidly converted into its active trans-alcohol metabolite following oral administration.


vascular malformation

description: A non-neoplastic disorder that is the result of defects of vascular morphogenesis.


ghrelin

A 28-membered appetite-stimulating polypeptide consisting of Gly, Ser, Ser(octanoyl), Phe, Leu, Ser, Pro, Glu, His, Gln, Arg, Val, Gln, Gln, Arg, Lys, Glu, Ser, Lys, Lys, Pro, Pro, Ala, Lys, Leu, Gln, Pro and Arg residues joined in sequence. The O-n-octanoylation of the side-chain hydroxy group of serine-3 (Ser3) is essential for ghrelin's activity.


alveolar soft part sarcoma

description: An alveolar soft part sarcoma occurring in adults. The most common site of involvement is the extremity, particularly the deep soft tissues of the thigh.


tertiary hyperparathyroidism

description: An overproduction of parathyroid hormone that is autonomous and often associated with chronic secondary hyperparathyroidism.


name: UGGG2_HUMAN UDP-glucose:glycoprotein glucosyltransferase 2 (sprot)

description: A UDP-glucose:glycoprotein glucosyltransferase 2 that is encoded in the genome of human.


cerebral cavernous malformation 2

description: Any familial cerebral cavernous malformation in which the cause of the disease is a mutation in the CCM2 gene.


name: DHB4_HUMAN Peroxisomal multifunctional enzyme type 2 (sprot)

description: A peroxisomal multifunctional enzyme type 2 that is encoded in the genome of human.


pimavanserin

A member of the class of ureas in which three of the four hydrogens are replaced by 4-fluorobenzyl, 1-methylpiperidin-4-yl, and 4-(isopropyloxy)benzyl groups. An atypical antipsychotic that is used (in the form of its tartrate salt) for treatment of hallucinations and delusions associated with Parkinson's disease.


name: RGMA_HUMAN Repulsive guidance molecule A (sprot)

description: A repulsive guidance molecule A that is encoded in the genome of human.


name: CXB6_HUMAN Gap junction beta-6 protein (sprot)

description: A gap junction beta-6 protein that is encoded in the genome of human.


mucopolysaccharidosis type 2

description: A lysosomal storage disease leading to a massive accumulation of glycosaminoglycans and a wide variety of symptoms including distinctive coarse facial features, short stature, cardio-respiratory involvement and skeletal abnormalities. It manifests as a continuum varying from a severe to an attenuated form without neuronal involvement.


EDN3_HUMAN Endothelin-3 (sprot)

An endothelin-3 that is encoded in the genome of human.


name: CISH_HUMAN Cytokine-inducible SH2-containing protein (sprot)

description: A cytokine-inducible SH2-containing protein that is encoded in the genome of human.


menatetrenone

A menaquinone whose side-chain contains 4 isoprene units in an all-trans-configuration.


NUMIDARGISTAT

An aminopyrrolidine that is pyrrolidine substituted by (2S)-2-aminopropanoyl, amino, carboxy, and 3-boronopropyl groups at positions 1, 3, 3, and 4 (the 3R,4S-stereoisomer). It is a selective arginase inhibitor being developed by Calithera Biosciences for the treatment of solid tumours.


DAIDZIN

A glycosyloxyisoflavone that is  daidzein attached to a beta-D-glucopyranosyl residue at position 7 via a glycosidic linkage. It is used in the treatment of alcohol dependency (antidipsotropic).


oxytetracycline zwitterion

A zwitterion obtained by transfer of a proton from the 2-hydroxy group to the adjacent tertiary amino group of oxytetracycline; major species at pH 7.3.


tyrosine hydroxylase deficiency

description: Tyrosine hydroxylase (TH) deficiency is an autosomal recessive disorder characterized by a spectrum of phenotypic features, based on severity and response to levodopa. It can be broadly categorized into TH-deficient dopa-responsive dystonia (mild, with dramatic and sustained response to levodopa), TH-deficiency infantile parkinsonism with motor delay (severe, with incomplete response to levodopa), and TH-deficiency infantile encephalopathy (very severe, with little to no response to levodopa).


A member of the class of pyridopyrimidines that is pyrido[2,3-d]pyrimidine-4,7(3H,8H)-dione substituted by (2R)-2,3-dihydroxypropyl, (2-fluoro-4-iodophenyl)amino, fluoro, and methyl groups at positions 3, 5, 6, and 8, respectively. It is a non-ATP competitive allosteric inhibitor of MEK1/2.


name: LUR1L_HUMAN Leucine rich adaptor protein 1-like (sprot)

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


name: LURA1_HUMAN Leucine rich adaptor protein 1 (sprot)

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


name: NDUA8_HUMAN NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 8 (sprot)

description: An NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 8 that is encoded in the genome of human.


name: PTPRZ_HUMAN Receptor-type tyrosine-protein phosphatase zeta (sprot)

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


phosphatidylglycerol (18:1/16:1)

A phosphatidylglycerol 34:2 in which the acyl group at C-1 contains 18 carbons and 1 double bond while that at C-2 contains 16 carbons and 1 double bond.


chronic hepatitis C virus infection

description: Chronic form of hepatitis C infection.


name: SPRL1_HUMAN SPARC-like protein 1 (sprot)

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


name: NCF4_HUMAN Neutrophil cytosol factor 4 (sprot)

description: A neutrophil cytosol factor 4 that is encoded in the genome of human.


name: OXGR1_HUMAN 2-oxoglutarate receptor 1 (sprot)

description: A 2-oxoglutarate receptor 1 that is encoded in the genome of human.


name: CY24A_HUMAN Cytochrome b-245 light chain (sprot)

description: A cytochrome b-245 light chain that is encoded in the genome of human.


hepatic porphyria

description: A group of metabolic diseases due to deficiency of one of a number of liver enzymes in the biosynthetic pathway of heme. They are characterized by the accumulation and increased excretion of porphyrins or its precursors. Clinical features include neurological symptoms (porphyria, acute intermittent), cutaneous lesions due to photosensitivity (porphyria cutanea tarda), or both (hereditary coproporphyria). Hepatic porphyrias can be hereditary or acquired as a result of toxicity to the hepatic tissues.


pharyngeal squamous cell carcinoma

description: A squamous cell carcinoma that arises from the pharynx.


name: SNED1_HUMAN Sushi, nidogen and EGF-like domain-containing protein 1 (sprot)

description: A sushi, nidogen and EGF-like domain-containing protein 1 that is encoded in the genome of human.


name: RASA2_HUMAN Ras GTPase-activating protein 2 (sprot)

description: A Ras GTPase-activating protein 2 that is encoded in the genome of human.


xeroderma pigmentosum group A

description: Any xeroderma pigmentosum in which the cause of the disease is a mutation in the XPA gene.


name: LRRC4_HUMAN Leucine-rich repeat-containing protein 4 (sprot)

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


amaurosis fugax

description: Transient complete or partial monocular blindness due to retinal ischemia. This may be caused by emboli from the CAROTID ARTERY (usually in association with CAROTID STENOSIS) and other locations that enter the central RETINAL ARTERY. (From Adams et al., Principles of Neurology, 6th ed, p245)


name: ANGL5_HUMAN Angiopoietin-related protein 5 (sprot)

description: An angiopoietin-related protein 5 that is encoded in the genome of human.


name: UCHL3_HUMAN Ubiquitin carboxyl-terminal hydrolase isozyme L3 (sprot)

description: A ubiquitin carboxyl-terminal hydrolase isozyme L3 that is encoded in the genome of human.


anthocyanidin

Any  flavonoid that is a salt containing flavylium ion or 2-phenylchromenylium skeleton and its substituted derivatives together with an appropriate counterion.  Aglycons of anthocyanins, they form a part of the large group of planr pigments.


CING_HUMAN Cingulin (sprot)

A cingulin that is encoded in the genome of human.


name: paroxysmal familial ventricular fibrillation

description: A rare, genetic, cardiac rhythm disease characterized by ventricular fibrillation in the absence of any structural or functional heart disease, or known repolarization abnormalities. The presence of J waves is associated with a higher risk of nocturnal ventricular fibrillation events and a higher risk of recurrence.


name: MDHC_HUMAN Malate dehydrogenase, cytoplasmic (sprot)

description: A malate dehydrogenase, cytoplasmic that is encoded in the genome of human.


colorectal adenoma

description: An adenoma that arises from the colon or rectum. The group of colorectal adenomas includes tubular, villous, and tubulovillous adenomas, traditional serrated adenomas, sessile serrated adenomas/polyps, and familial adenomatous polyposis.


AMYLMETACRESOL

A phenol having the structure of m-cresol substituted at the 6-position with an amyl group.


PCNT_HUMAN Pericentrin (sprot)

A pericentrin that is encoded in the genome of human.


ethionamide

A thiocarboxamide that is pyridine-4-carbothioamide substituted by an ethyl group at position 2. A prodrug that undergoes metabolic activation by conversion to the corresponding S-oxide.


anterior segment dysgenesis

description: A spectrum of developmental anomalies that affect the development of the anterior segment of the eyeball resulting from abnormalities of neural crest migration and differentiation during embryologic development (Axenfeld-Rieger syndrome, Peters anomaly, posterior keratoconus, and iridoschisis).


mucopolysaccharidosis type 1

description: The most common type of mucopolysaccharidosis. It is inherited in an autosomal recessive pattern. It comprises a group of lysosomal storage diseases which includes the most severe form (Hurler syndrome) and the mildest form (Scheie syndrome).


name: CELA1_HUMAN Chymotrypsin-like elastase family member 1 (sprot)

description: A chymotrypsin-like elastase family member 1 that is encoded in the genome of human.


acute monocytic leukemia

description: Acute monoblastic leukemia (AML-M5), is one of the most common subtypes of acute myeloid leukemia (AML) that is either comprised of more than 80% of monoblasts (AML-M5a) or 30-80% monoblasts with (pro)monocytic differentiation (AML-M5b). AML-M5 presents with asthenia, pallor, fever, and dizziness. Specific features of AML-M5 include hyperleukocytosis, propensity for extramedullary infiltrates, coagulation abnormalities including disseminated intravascular coagulation and neurological disorders. Leukemia cutis and gingival infiltration can also be seen. A characteristic translocation observed in AML-M5 is t(9;11).


name: ELMD2_HUMAN ELMO domain-containing protein 2 (sprot)

description: An ELMO domain-containing protein 2 that is encoded in the genome of human.


Podocyte hypertrophy

description: Increased visceral epithelial cell size, with or without cytoplasmic protein droplets.


name: CO6A1_HUMAN Collagen alpha-1(VI) chain (sprot)

description: A collagen alpha-1(VI) chain that is encoded in the genome of human.


CPLX2_HUMAN Complexin-2 (sprot)

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


name: FSHB_HUMAN Follitropin subunit beta (sprot)

description: A follitropin subunit beta that is encoded in the genome of human.


Ketonuria

description: High levels of ketone bodies (acetoacetic acid, beta-hydroxybutyric acid, and acetone) in the urine. Ketone bodies are insignificant in the blood and urine of normal individuals in the postprandial or overnight-fasted state.


name: CASD1_HUMAN N-acetylneuraminate 9-O-acetyltransferase (sprot)

description: An N-acetylneuraminate 9-O-acetyltransferase that is encoded in the genome of human.


name: PTH2R_HUMAN Parathyroid hormone 2 receptor (sprot)

description: A parathyroid hormone 2 receptor that is encoded in the genome of human.


adult acute lymphoblastic leukemia

description: An acute lymphoblastic leukemia occurring during adulthood.


A member of the class of pyrazoles that is 1H-pyrazole in which the hydrogens at positions 3, 4, and 5 are replaced by N-(hydroxyacetyl)piperidin-4-yl, pyrimidin-4-yl and p-chlorophenyl groups, respectively.


Schistosoma mansoni infectious disease

description: An infection that is caused by Schistosoma mansoni.


Hyperactivity

description: Hyperactivity is a condition characterized by constant and unusually high levels of activity, even in situations where it is deemed inappropriate.


name: SMHD1_HUMAN Structural maintenance of chromosomes flexible hinge domain-containing protein 1 (sprot)

description: A structural maintenance of chromosomes flexible hinge domain-containing protein 1 that is encoded in the genome of human.


name: SOSD1_HUMAN Sclerostin domain-containing protein 1 (sprot)

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


name: PRPK_HUMAN EKC/KEOPS complex subunit TP53RK (sprot)

description: An EKC/KEOPS complex subunit TP53RK that is encoded in the genome of human.


name: HMGB3_HUMAN High mobility group protein B3 (sprot)

description: A high mobility group protein B3 that is encoded in the genome of human.


name: P4R3A_HUMAN Serine/threonine-protein phosphatase 4 regulatory subunit 3A (sprot)

description: A serine/threonine-protein phosphatase 4 regulatory subunit 3A that is encoded in the genome of human.


name: RBL1_HUMAN Retinoblastoma-like protein 1 (sprot)

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


primary hyperparathyroidism

description: Hyperfunction of the parathyroid glands resulting in the overproduction of parathyroid hormone. It is caused by parathyroid adenoma, parathyroid hyperplasia, parathyroid carcinoma, and multiple endocrine neoplasia. It is associated with hypercalcemia and hypophosphatemia. Signs and symptoms include weakness, fatigue, nausea, vomiting, constipation, depression, bone pain, osteoporosis, cystic bone lesions, and kidney stones.


name: MOBP_HUMAN Myelin-associated oligodendrocyte basic protein (sprot)

description: A myelin-associated oligodendrocyte basic protein that is encoded in the genome of human.


brachial plexus neuritis

description: An inflammatory process affecting the brachial plexus. It results in severe pain in the upper extremity and shoulder, upper arm weakness and loss of sensation in the upper arm.


spastic quadriplegic cerebral palsy

description: A type of spastic cerebral palsy characterized by increased muscle tone of all four extremities.


MADECASSIC ACID

A pentacyclic triterpenoid that is ursane substituted by a carboxy group at position 28 and hydroxy groups at positions 2, 3, 6 and 23 (the 2alpha,3beta,6beta stereoisomer).


name: CEL3B_HUMAN Chymotrypsin-like elastase family member 3B (sprot)

description: A chymotrypsin-like elastase family member 3B that is encoded in the genome of human.


name: I22R2_HUMAN Interleukin-22 receptor subunit alpha-2 (sprot)

description: An interleukin-22 receptor subunit alpha-2 that is encoded in the genome of human.


autoimmune pancreatitis

description: Autoimmune pancreatitis (AIP) is a rare pancreatic disease characterized by chronic non-alcoholic pancreatitis that presents with abdominal pain, steatorrhea, obstructive jaundice and responds well to steroid therapy and is seen in two subforms: type 1 AIP which affects elderly males, involves other organs and has increased immunoglobin G4 (IgG4) levels and type 2 AIP which affects both sexes equally but presents at a younger age and has no other organ involvement or increased IgG4 levels.


name: RIOK1_HUMAN Serine/threonine-protein kinase RIO1 (sprot)

description: A serine/threonine-protein kinase RIO1 that is encoded in the genome of human.


AF10_HUMAN Protein AF-10 (sprot)

A protein AF-10 that is encoded in the genome of human.


name: COQ6_HUMAN Ubiquinone biosynthesis monooxygenase COQ6, mitochondrial (sprot)

description: A ubiquinone biosynthesis monooxygenase COQ6, mitochondrial that is encoded in the genome of human.


OXYR_HUMAN Oxytocin receptor (sprot)

An oxytocin receptor that is encoded in the genome of human.


aclidinium

A carboxylic ester obtained by formal condensation between the carboxy group of 2-hydroxy(di-2-thienyl)acetic acid and the hydroxy group of N-(3-phenoxypropyl)-3-quinuclidinol. Used as its bromide salt for the long-term maintenance treatment of bronchospasm associated with chronic obstructive pulmonary disease (COPD).


name: LRRF1_HUMAN Leucine-rich repeat flightless-interacting protein 1 (sprot)

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


thymine

A pyrimidine nucleobase that is uracil in which the hydrogen at position 5 is replaced by a methyl group.


Pedal edema

description: An abnormal accumulation of excess fluid in the lower extremity resulting in swelling of the feet and extending upward to the lower leg.


name: TR13B_HUMAN Tumor necrosis factor receptor superfamily member 13B (sprot)

description: A tumor necrosis factor receptor superfamily member 13B that is encoded in the genome of human.


acute undifferentiated leukemia

description: A rare acute leukemia of ambiguous lineage in which the blasts do not express markers specific to myeloid or lymphoid lineage.


metacycline

A tetracycline that is the 6-methylene analogue of oxytetracycline, obtained by formal dehydration at position 6.


name: CD5_HUMAN T-cell surface glycoprotein CD5 (sprot)

description: A T-cell surface glycoprotein CD5 that is encoded in the genome of human.


name: BARH2_HUMAN BarH-like 2 homeobox protein (sprot)

description: A BarH-like 2 homeobox protein that is encoded in the genome of human.


name: short chain acyl-CoA dehydrogenase deficiency

description: Short-chain acyl-CoA dehydrogenase (SCAD) deficiency is a very rare inborn error of mitochondrial fatty acid oxidation characterized by variable manifestations ranging from asymptomatic individuals (in most cases) to those with failure to thrive, hypotonia, seizures, developmental delay and progressive myopathy.


name: CDK10_HUMAN Cyclin-dependent kinase 10 (sprot)

description: A cyclin-dependent kinase 10 that is encoded in the genome of human.


HYDROXYPHENYL PROPIONIC ACID

A hydroxy monocarboxylic acid consisting of propionic acid having a 4-hydroxyphenyl group at the 3-position.


name: RTN4R_HUMAN Reticulon-4 receptor (sprot)

description: A reticulon-4 receptor that is encoded in the genome of human.


name: CBX8_HUMAN Chromobox protein homolog 8 (sprot)

description: A chromobox protein homolog 8 that is encoded in the genome of human.


BCOR_HUMAN BCL-6 corepressor (sprot)

A BCL-6 corepressor that is encoded in the genome of human.


Dyssynergia

description: A type of ataxia characterized by the impairment of the ability to smoothly perform the elements of a voluntary movement in the appropriate order and speed. With dyssynergia, a voluntary movement appears broken down into its component parts.


neurotic disorder

description: A form of functional mental illness that manifests in distressed emotional reactions such as anxiety, obsessive thoughts, compulsive behaviors, or irrational fears.


name: CDC16_HUMAN Cell division cycle protein 16 homolog (sprot)

description: A cell division cycle protein 16 that is encoded in the genome of human.


name: HGS_HUMAN Hepatocyte growth factor-regulated tyrosine kinase substrate (sprot)

description: A hepatocyte growth factor-regulated tyrosine kinase substrate that is encoded in the genome of human.


LEG10_HUMAN Galectin-10 (sprot)

A galectin-10 that is encoded in the genome of human.


WNT16_HUMAN Protein Wnt-16 (sprot)

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


name: DHRS3_HUMAN Short-chain dehydrogenase/reductase 3 (sprot)

description: A short-chain dehydrogenase/reductase 3 that is encoded in the genome of human.


name: KHDR1_HUMAN KH domain-containing, RNA-binding, signal transduction-associated protein 1 (sprot)

description: A KH domain-containing, RNA-binding, signal transduction-associated protein 1 that is encoded in the genome of human.


name: ARHG5_HUMAN Rho guanine nucleotide exchange factor 5 (sprot)

description: A Rho guanine nucleotide exchange factor 5 that is encoded in the genome of human.


name: ENTP6_HUMAN Ectonucleoside triphosphate diphosphohydrolase 6 (sprot)

description: An ectonucleoside triphosphate diphosphohydrolase 6 that is encoded in the genome of human.


S-NITROSOGLUTATHIONE

A glutathione derivative that is glutathione in which the hydrogen attached to the sulfur has been replaced by a nitroso group.


isoferulic acid

A ferulic acid consisting of trans-cinnamic acid bearing methoxy and hydroxy substituents at positions 4 and 3 respectively on the phenyl ring.


glycoursodeoxycholic acid

A bile acid glycine conjugate derived from ursoodeoxycholic acid.


name: CREL2_HUMAN Protein disulfide isomerase CRELD2 (sprot)

description: A protein disulfide isomerase CRELD2 that is encoded in the genome of human.


name: S39A5_HUMAN Zinc transporter ZIP5 (sprot)

description: A zinc transporter ZIP5 that is encoded in the genome of human.


name: UBE4B_HUMAN Ubiquitin conjugation factor E4 B (sprot)

description: A ubiquitin conjugation factor E4 B that is encoded in the genome of human.


succinyl-CoA

An omega-carboxyacyl-CoA having succinoyl as the S-acyl component.


name: RB27A_HUMAN Ras-related protein Rab-27A (sprot)

description: A Ras-related protein Rab-27A that is encoded in the genome of human.


name: GPR18_HUMAN N-arachidonyl glycine receptor (sprot)

description: An N-arachidonyl glycine receptor that is encoded in the genome of human.


name: ITK_HUMAN Tyrosine-protein kinase ITK/TSK (sprot)

description: A tyrosine-protein kinase ITK/TSK that is encoded in the genome of human.


name: THA10_HUMAN THAP domain-containing protein 10 (sprot)

description: A THAP domain-containing protein 10 that is encoded in the genome of human.


name: LFTY2_HUMAN Left-right determination factor 2 (sprot)

description: A lefty 2 that is encoded in the genome of human.


name: CIDEA_HUMAN Lipid transferase CIDEA (sprot)

description: A lipid transferase CIDEA that is encoded in the genome of human.


name: ING1_HUMAN Inhibitor of growth protein 1 (sprot)

description: An inhibitor of growth protein 1 that is encoded in the genome of human.


name: MYO5B_HUMAN Unconventional myosin-Vb (sprot)

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


occupational asthma

description: Asthma attacks caused, triggered, or exacerbated by OCCUPATIONAL EXPOSURE.


name: RHG18_HUMAN Rho GTPase-activating protein 18 (sprot)

description: A Rho GTPase-activating protein 18 that is encoded in the genome of human.


name: EMP1_HUMAN Epithelial membrane protein 1 (sprot)

description: An epithelial membrane protein 1 that is encoded in the genome of human.


name: EM55_HUMAN 55 kDa erythrocyte membrane protein (sprot)

description: A 55 kDa erythrocyte membrane protein that is encoded in the genome of human.


tramadol

A 2-[(dimethylamino)methyl]-1-(3-methoxyphenyl)cyclohexanol in which both stereocentres have R-configuration; the (R,R)-enantiomer of the racemic opioid analgesic tramadol, it exhibits ten-fold higher analgesic potency than the (S,S)-enantiomer.


name: MRP7_HUMAN ATP-binding cassette sub-family C member 10 (sprot)

description: An ATP-binding cassette sub-family C member 10 that is encoded in the genome of human.


phosphatidylcholine (17:0/20:4)

A phosphatidylcholine 37:4 in which the fatty acyl groups at positions 1 and 2 are specified as C17:0 and C20:4 respectively.


Anal intraepithelial neoplasia

description: Anal intraepithelial neoplasia (AIN) is a premalignant lesion of the anal mucosa that is a precursor to anal cancer.


CHIO_HUMAN Beta-chimaerin (sprot)

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


autonomic dysreflexia

description: A syndrome associated with damage to the spinal cord above the mid thoracic level (see SPINAL CORD INJURIES) characterized by a marked increase in the sympathetic response to minor stimuli such as bladder or rectal distention. Manifestations include HYPERTENSION; TACHYCARDIA (or reflex bradycardia); FEVER; FLUSHING; and HYPERHIDROSIS. Extreme hypertension may be associated with a STROKE. (From Adams et al., Principles of Neurology, 6th ed, pp538 and 1232; J Spinal Cord Med 1997;20(3):355-60)


IL26_HUMAN Interleukin-26 (sprot)

An interleukin-26 that is encoded in the genome of human.


name: CXAR_HUMAN Coxsackievirus and adenovirus receptor (sprot)

description: A coxsackievirus and adenovirus receptor that is encoded in the genome of human.


name: CHD6_HUMAN Chromodomain-helicase-DNA-binding protein 6 (sprot)

description: A chromodomain-helicase-DNA-binding protein 6 that is encoded in the genome of human.


name: ADA2B_HUMAN Alpha-2B adrenergic receptor (sprot)

description: An alpha-2B adrenergic receptor that is encoded in the genome of human.


RIPL1_HUMAN RILP-like protein 1 (sprot)

A RILP-like protein 1 that is encoded in the genome of human.


name: KI2L3_HUMAN Killer cell immunoglobulin-like receptor 2DL3 (sprot)

description: A killer cell immunoglobulin-like receptor 2DL3 that is encoded in the genome of human.


name: SGPP2_HUMAN Sphingosine-1-phosphate phosphatase 2 (sprot)

description: A sphingosine-1-phosphate phosphatase 2 that is encoded in the genome of human.


name: ADCY7_HUMAN Adenylate cyclase type 7 (sprot)

description: An adenylate cyclase type 7 that is encoded in the genome of human.


name: RRS1_HUMAN Ribosome biogenesis regulatory protein homolog (sprot)

description: A ribosome biogenesis regulatory protein that is encoded in the genome of human.


name: PAR3_HUMAN Proteinase-activated receptor 3 (sprot)

description: A proteinase-activated receptor 3 that is encoded in the genome of human.


TRIBENURON METHYL

The methyl ester of tribenuron.


name: WNK2_HUMAN Serine/threonine-protein kinase WNK2 (sprot)

description: A serine/threonine-protein kinase WNK2 that is encoded in the genome of human.


latent tuberculosis infection

description: Mycobacterium tuberculosis infection that does not induce infectious expression of the disease in the affected person, although it can cause continuous immune response generated towards TB antigens; person having LTBI are asymptomatic and acting as a reservoir of active tuberculosis tuberculosis cases and Mycobacterium tuberculosis and run a 5-10% risk of reactivating tuberculosis throughout their lives.


neurosarcoidosis

description: A sarcoidosis that involves the nervous system.


name: CCGL_HUMAN Voltage-dependent calcium channel gamma-like subunit (sprot)

description: A voltage-dependent calcium channel gamma-like subunit that is encoded in the genome of human.


PAZOPANIB HYDROCHLORIDE

A hydrochloride salt prepared from equimolar amounts of pazopanib and hydrochloric acid. Used for treatment of kidney cancer.


name: TTYH2_HUMAN Protein tweety homolog 2 (sprot)

description: A protein tweety homolog 2 that is encoded in the genome of human.


salivary gland carcinoma

description: A carcinoma that arises from the major or minor salivary glands. Representative examples include carcinoma ex pleomorphic adenoma, adenocarcinoma, adenoid cystic carcinoma, and mucoepidermoid carcinoma.


name: congenital disorder of deglycosylation 1

description: A rare autosomal recessive inherited disorder caused by mutations in the NGLY1 gene. It is characterized by developmental delay, hypotonia, abnormal involuntary movements, poor tear production, microcephaly, intractable seizures, abnormal eye movements, and liver abnormalities.


name: JAM2_HUMAN Junctional adhesion molecule B (sprot)

description: A junctional adhesion molecule B that is encoded in the genome of human.


name: UBP48_HUMAN Ubiquitin carboxyl-terminal hydrolase 48 (sprot)

description: A ubiquitin carboxyl-terminal hydrolase 48 that is encoded in the genome of human.


Small vessel vasculitis

description: A type of vasculitis (inflammation of blood vessel walls) that affects blood vessels that are smaller than arteries, i.e., arterioles, venules, and capilllaries.


mesenchymal chondrosarcoma

description: A morphologic variant of chondrosarcoma arising from bone and soft tissue. It is characterized by the presence of malignant small round cells, biphasic growth pattern, and well differentiated hyaline cartilage. Clinical presentation includes pain and swelling. The clinical course is aggressive, with local recurrences and distant metastases.


name: GCM1_HUMAN Chorion-specific transcription factor GCMa (sprot)

description: A chorion-specific transcription factor GCMa that is encoded in the genome of human.


androstenediol

A 3beta-hydroxy-Delta(5)-steroid that is 3beta-hydroxyandrost-5-ene carrying an additional hydroxy group at position 17beta.


name: KCNN2_HUMAN Small conductance calcium-activated potassium channel protein 2 (sprot)

description: A small conductance calcium-activated potassium channel protein 2 that is encoded in the genome of human.


GA2L2_HUMAN GAS2-like protein 2 (sprot)

A GAS2-like protein 2 that is encoded in the genome of human.


name: NCKPL_HUMAN Nck-associated protein 1-like (sprot)

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


ophthalmia neonatorum

description: Inflammation of the conjunctiva in a newborn due to chemical or infectious causes. Aseptic conjunctivitis is often related to the use of prophylactic medications for infectious conjunctivitis. Septic conjunctivitis is related to perinatal exposure to microorganisms.


name: CBPC1_HUMAN Cytosolic carboxypeptidase 1 (sprot)

description: A cytosolic carboxypeptidase 1 that is encoded in the genome of human.


FETUB_HUMAN Fetuin-B (sprot)

A fetuin-B that is encoded in the genome of human.


name: DTD1_HUMAN D-aminoacyl-tRNA deacylase 1 (sprot)

description: A D-aminoacyl-tRNA deacylase 1 that is encoded in the genome of human.


name: food protein-induced enterocolitis syndrome

description: An eosinophilic gastrointestinal disorder triggered by food that is non-IgE-mediated.


name: CIR1_HUMAN Corepressor interacting with RBPJ 1 (sprot)

description: A corepressor interacting with RBPJ 1 that is encoded in the genome of human.


name: ARL8A_HUMAN ADP-ribosylation factor-like protein 8A (sprot)

description: An ADP-ribosylation factor-like protein 8A that is encoded in the genome of human.


Venous occlusion

description: Blockage of venous return (flow of blood from the periphery back towards the right atrium) in a vein.


serpiginous choroiditis

description: Serpiginous choroiditis is a rare inflammatory eye condition that typicallydevelops betweenage 30 and 70 years. Affected individuals have lesions in the eye thatlast from weeks to months and involve scarringof the eye tissue.Recurrence of these lesionsis common in serpiginous choroiditis. Vision loss may occurin one or both eyeswhen the macula is involved. Treatment options involve anti-inflammatory and immune-suppressing medications.


indacaterol

A monohydroxyquinoline that consists of 5-[(1R)-2-amino-1-hydroxyethyl]-8-hydroxyquinolin-2-one having a 5,6-diethylindan-2-yl group attached to the amino function. Used as the maleate salt for treatment of chronic obstructive pulmonary disease.


phosphatidylcholine (20:1/20:4)

A phosphatidylcholine 40:5 in which the fatty acyl groups at positions 1 and 2 are specified as C20:1 and C20:4 respectively.


glossopharyngeal neuralgia

description: Glossopharyngeal neuralgia is a condition characterized by repeated episodes of severe pain in the tongue, throat, ear, and tonsils (areas connected to the ninth cranial nerve, or glossopharyngeal nerve). It typically occurs in individuals over age 40. Episodes of pain may last from a few seconds to a few minutes, and usually occur on one side. The pain may be triggered by swallowing, speaking, laughing, chewing or coughing. The condition is thought to be due to irritation of the nerve, although the source of irritation is unclear. The goal of treatment is to control pain, but over-the-counter pain medications are not very effective; the most effective drugs are anti-seizure medications. Some antidepressants help certain people. Surgery to cut or take pressure off of the glossopharyngeal nerve may be needed in severe cases.


phosphatidylcholine (18:1/18:2)

A phosphatidylcholine 36:3 in which the fatty acyl groups at positions 1 and 2 are specified as C18:1 and C18:2 respectively.


name: FOXD2_HUMAN Forkhead box protein D2 (sprot)

description: A forkhead box protein D2 that is encoded in the genome of human.


name: CHP3_HUMAN Calcineurin B homologous protein 3 (sprot)

description: A calcineurin B homologous protein 3 that is encoded in the genome of human.


intestinal volvulus

description: Twisting of a loop of bowel that results in intestinal obstruction.


name: Respiratory insufficiency due to muscle weakness


KLK5_HUMAN Kallikrein-5 (sprot)

A kallikrein-5 that is encoded in the genome of human.


name: CP46A_HUMAN Cholesterol 24-hydroxylase (sprot)

description: A cytochrome P450 46A1 that is encoded in the genome of human.


name: RPAB2_HUMAN DNA-directed RNA polymerases I, II, and III subunit RPABC2 (sprot)

description: A DNA-directed RNA polymerases I, II, and III subunit RPABC2 that is encoded in the genome of human.


NDRG4_HUMAN Protein NDRG4 (sprot)

A protein NDRG4 that is encoded in the genome of human.


giant cell reparative granuloma

description: A rare tumor-like lesion of the hands and feet characterized by the presence of hemorrhagic fibrous tissue, hemosiderin deposition, osteoclast-like giant cells which are irregularly distributed, and reactive bone formation. Pain and swelling are the most frequent symptoms. It may recur following curettage, but is usually cured after a second procedure.


name: HS12B_HUMAN Heat shock 70 kDa protein 12B (sprot)

description: A heat shock 70 kDa protein 12B that is encoded in the genome of human.


name: ZMIZ1_HUMAN Zinc finger MIZ domain-containing protein 1 (sprot)

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


tufted angioma

description: Tufted angioma is a very rare, benign, cutaneous, slow-growing, vascular tumor mostly developing in infancy or early childhood.


ovarian granulosa cell tumor

description: A granulosa-stromal cell tumor that arises from the ovary. It is characterized by the presence of granulosa cells that comprise at least ten percent of the cellular population. The granulosa cells are often found in a background that contains theca and fibrous cells. There are two major subtypes recognized, adult and juvenile granulosa cell tumor. Clinically, patients may present with an abdominal mass. Symptoms depend on the patient's age. The most important indicator of prognosis is tumor stage. Age over forty years at the time of the initial diagnosis, large tumor size, bilaterality, cellular atypia, and increased mitotic activity are factors indicating a potentially aggressive clinical course and relative poor prognosis.


PHENYL PROPIONIC ACID

A monocarboxylic acid that is propionic acid substituted at position 3 by a phenyl group.


axonal neuropathy

description: Any nerve disorder affecting the axon of a nerve.


name: CBX2_HUMAN Chromobox protein homolog 2 (sprot)

description: A chromobox protein homolog 2 that is encoded in the genome of human.


name: SMCE1_HUMAN SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily E member 1 (sprot)

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


name: GIPC1_HUMAN PDZ domain-containing protein GIPC1 (sprot)

description: A PDZ domain-containing protein GIPC1 that is encoded in the genome of human.


name: THTM_HUMAN 3-mercaptopyruvate sulfurtransferase (sprot)

description: A 3-mercaptopyruvate sulfurtransferase that is encoded in the genome of human.


name: I2BPL_HUMAN Probable E3 ubiquitin-protein ligase IRF2BPL (sprot)

description: An enhanced at puberty protein 1 that is encoded in the genome of human.


name: HXC10_HUMAN Homeobox protein Hox-C10 (sprot)

description: A homeobox protein Hox-C10 that is encoded in the genome of human.


name: GLTP_HUMAN Glycolipid transfer protein (sprot)

description: A glycolipid transfer protein that is encoded in the genome of human.


name: TSEAR_HUMAN Thrombospondin-type laminin G domain and EAR repeat-containing protein (sprot)

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


phosphatidylcholine (18:2/22:6)

A phosphatidylcholine 40:8 in which the fatty acyl groups at positions 1 and 2 are specified as C18:2 and C22:6 respectively.


name: DX39A_HUMAN ATP-dependent RNA helicase DDX39A (sprot)

description: An ATP-dependent RNA helicase DDX39 that is encoded in the genome of human.


name: AZIN1_HUMAN Antizyme inhibitor 1 (sprot)

description: An antizyme inhibitor 1 that is encoded in the genome of human.


name: THNS1_HUMAN Threonine synthase-like 1 (sprot)

description: A threonine synthase-like 1 that is encoded in the genome of human.


name: NDUV1_HUMAN NADH dehydrogenase [ubiquinone] flavoprotein 1, mitochondrial (sprot)

description: An NADH dehydrogenase [ubiquinone] flavoprotein 1, mitochondrial that is encoded in the genome of human.


name: NDUV2_HUMAN NADH dehydrogenase [ubiquinone] flavoprotein 2, mitochondrial (sprot)

description: An NADH dehydrogenase [ubiquinone] flavoprotein 2, mitochondrial that is encoded in the genome of human.


name: combined hepatocellular carcinoma and cholangiocarcinoma

description: A rare tumor containing unequivocal elements of both hepatocellular and cholangiocarcinoma that are intimately admixed. This tumor should be distinguished from separate hepatocellular carcinoma and cholangiocarcinoma arising in the same liver. The prognosis of this tumor is poor.


Hemiballismus

description: Hemiballismus is a rare movement disorder that is caused primarily by damage to various areas in the basal ganglia. Hemiballismus is usually characterized by involuntary flinging motions of the extremities. The movements are often violent and have wide amplitudes of motion. They are continuous and random and can involve proximal and/or distal muscles on one side of the body, while some cases even include the facial muscles. The more a patient is active, the more the movements increase. With relaxation comes a decrease in movements.


MYOZ1_HUMAN Myozenin-1 (sprot)

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


name: OSGEP_HUMAN tRNA N6-adenosine threonylcarbamoyltransferase (sprot)

description: A tRNA N6-adenosine threonylcarbamoyltransferase that is encoded in the genome of human.


name: FLVC1_HUMAN Heme transporter FLVCR1 (sprot)

description: A heme transporter FLVCR1 that is encoded in the genome of human.


phosphatidylcholine (18:0/18:2)

A phosphatidylcholine 36:2 in which the fatty acyl groups at positions 1 and 2 are specified as C18:0 and C18:2 respectively.


name: GSTM5_HUMAN Glutathione S-transferase Mu 5 (sprot)

description: A glutathione S-transferase mu 5 that is encoded in the genome of human.


RCC2_HUMAN Protein RCC2 (sprot)

A protein RCC2 that is encoded in the genome of human.


name: I36RA_HUMAN Interleukin-36 receptor antagonist protein (sprot)

description: An interleukin-1 family member 5 that is encoded in the genome of human.


name: NUDT5_HUMAN ADP-sugar pyrophosphatase (sprot)

description: An ADP-sugar pyrophosphatase that is encoded in the genome of human.


name: HPIP_HUMAN Host cell factor C1 regulator 1 (sprot)

description: A host cell factor C1 regulator 1 that is encoded in the genome of human.


An organic phosphonate that is the tetraethyl ester of  [2-(3,5-di-tert-butyl-4-hydroxyphenyl)ethene-1,1-diyl]bis(phosphonic acid).


name: CLCN4_HUMAN H(+)/Cl(-) exchange transporter 4 (sprot)

description: An H(+)/Cl(-) exchange transporter 4 that is encoded in the genome of human.


name: CNKR2_HUMAN Connector enhancer of kinase suppressor of ras 2 (sprot)

description: A connector enhancer of kinase suppressor of ras 2 that is encoded in the genome of human.


name: KI2L1_HUMAN Killer cell immunoglobulin-like receptor 2DL1 (sprot)

description: A killer cell immunoglobulin-like receptor 2DL1 that is encoded in the genome of human.


name: TCAF1_HUMAN TRPM8 channel-associated factor 1 (sprot)

description: A TRPM8 channel-associated factor 1 that is encoded in the genome of human.


name: TCAF2_HUMAN TRPM8 channel-associated factor 2 (sprot)

description: A TRPM8 channel-associated factor 2 that is encoded in the genome of human.


cenicriviroc

A member of the class of benzazocines that is (5Z)-1,2,3,4-tetrahydro-1-benzazocine which is substituted by a 2-methylpropyl, N-{4-[(S)-(1-propyl-1H-imidazol-5-yl)methanesulfinyl]phenyl}carboxamide and 4-(2-butoxyethoxy)phenyl groups at positions 1, 5 and 8, respectively. It is a potent chemokine 2 and 5 receptor antagonist currently in development for the treatment of liver fibrosis in adults with nonalcoholic steatohepatitis (NASH).


SPON1_HUMAN Spondin-1 (sprot)

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


name: PTGIS_HUMAN Prostacyclin synthase (sprot)

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


name: RAB18_HUMAN Ras-related protein Rab-18 (sprot)

description: A Ras-related protein Rab-18 that is encoded in the genome of human.


PHENANTHRENE

A polycyclic aromatic hydrocarbon composed of three fused benzene rings which takes its name from the two terms 'phenyl' and 'anthracene.'


fibrolamellar hepatocellular carcinoma

description: A distinctive type of liver cell carcinoma that arises in non-cirrhotic livers and is seen predominantly in young patients. The tumor cells are polygonal and deeply eosinophilic, and are embedded in a fibrous stroma. The prognosis is similar to classical hepatocellular carcinoma that arises in non-cirrhotic livers, and better than hepatocellular carcinoma that arises in cirrhotic livers.


name: HELZ2_HUMAN 3'-5' exoribonuclease HELZ2 (sprot)

description: A 3'-5' exoribonuclease HELZ2 that is encoded in the genome of human.


name: AMER1_HUMAN APC membrane recruitment protein 1 (sprot)

description: An APC membrane recruitment protein 1 that is encoded in the genome of human.


herpes zoster

description: A common dermal and neurologic disorder caused by reactivation of the varicella-zoster virus that has remained dormant within dorsal root ganglia, often for decades, after the patient's initial exposure to the virus in the form of varicella (chickenpox). It is characterized by severe neuralgic pain along the distribution of the affected nerve and crops of clustered vesicles over the area.


name: CAMP1_HUMAN Calmodulin-regulated spectrin-associated protein 1 (sprot)

description: A calmodulin-regulated spectrin-associated protein 1 that is encoded in the genome of human.


retiform hemangioendothelioma

description: An intermediate, locally aggressive and rarely metastasizing blood vessel neoplasm. It is characterized by the presence of hobnail endothelial cells and formation of arborizing vascular channels.


name: SPAG4_HUMAN Sperm-associated antigen 4 protein (sprot)

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


sumatriptan

A sulfonamide that consists of N,N-dimethyltryptamine bearing an additional (N-methylsulfamoyl)methyl substituent at position 5. Selective agonist for a vascular 5-HT1 receptor subtype (probably a member of the 5-HT1D family). Used (in the form of its succinate salt) for the acute treatment of migraine with or without aura in adults.


name: familial or sporadic hemiplegic migraine

description: Hemiplegic migraine (HM) is a rare variety of migraine with aura characterized by the presence of a motor weakness during the aura. Hemiplegic migraine has two main forms depending on the familial history: patients with at least one first- or second-degree relative who has aura including motor weakness have familial hemiplegic migraine (FHM); patients without such familial history have sporadic hemiplegic migraine (SHM).


ambenonium

A symmetrical oxalamide-based bis-quaternary ammonium ion having ethyl and 2-chlorobenzyl groups attached to the nitrogens.


name: PHF20_HUMAN PHD finger protein 20 (sprot)

description: A PHD finger protein 20 that is encoded in the genome of human.


name: REV3L_HUMAN DNA polymerase zeta catalytic subunit (sprot)

description: A DNA polymerase zeta catalytic subunit that is encoded in the genome of human.


ASPN_HUMAN Asporin (sprot)

An asporin that is encoded in the genome of human.


Palpebral edema

description: Edema in the region of the eyelids.


DEOXYURIDINE MONOPHOSPHATE

A pyrimidine 2'-deoxyribonucleoside 5'-monophosphate having uracil as the nucleobase.


name: AEBP2_HUMAN Zinc finger protein AEBP2 (sprot)

description: A zinc finger protein AEBP2 that is encoded in the genome of human.


name: SC5A5_HUMAN Sodium/iodide cotransporter (sprot)

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


name: ITBP1_HUMAN Integrin beta-1-binding protein 1 (sprot)

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


pentaerythritol

A tetrol that is neopentane in which one of the methyl hydrogens of all four methyl groups are replaced by hydroxy groups. It is a chemical intermediate used in the production of explosives, plastics, paints, appliances, and cosmetics.


name: well differentiated papillary mesothelioma

description: A localized or multifocal mesothelioma arising from the peritoneum and less often the pleura. Cases arising from the peritoneum predominantly occur in women. It is characterized by the formation of papillae, covered by a single layer of blunt mesothelial cells. Mitotic figures are not present. There is no evidence of severe cytologic atypia. It has a relatively favorable clinical outcome, compared to malignant mesothelioma.


capivasertib

An aminopiperidine that is piperidine substituted by 7H-pyrrolo[2,3-d]pyrimidin-4-yl, amino, and [(1S)-1-(4-chlorophenyl)-3-hydroxypropyl]aminocarbonyl groups at positions 1, 4, and 4, respectively. It is a pan-AKT kinase inhibitor used in combination with fulvestrant for the treatment of adult patients with hormone receptor (HR)-positive, human epidermal growth factor receptor 2 (HER2)-negative, locally advanced or metastatic breast cancer with one or more PIK3CA/AKT1/PTEN-alterations.


bithionol

An aryl sulfide that is diphenyl sulfide in which each phenyl group is substituted at position 2 by hydroxy and at positions 3 and 5 by chlorine. A fungicide and anthelmintic, it was used in various topical drug products for the treatment of liver flukes, but withdrawn after being shown to be a potent photosensitizer with the potential to cause serious skin disorders.


name: ANR11_HUMAN Ankyrin repeat domain-containing protein 11 (sprot)

description: An ankyrin repeat domain-containing protein 11 that is encoded in the genome of human.


name: FOG2_HUMAN Zinc finger protein ZFPM2 (sprot)

description: A zinc finger protein ZFPM2 that is encoded in the genome of human.


name: ICE2_HUMAN Little elongation complex subunit 2 (sprot)

description: A little elongation complex subunit 2 that is encoded in the genome of human.


VIGLN_HUMAN Vigilin (sprot)

A vigilin that is encoded in the genome of human.


name: UPP1_HUMAN Uridine phosphorylase 1 (sprot)

description: A uridine phosphorylase 1 that is encoded in the genome of human.


name: GPR84_HUMAN G-protein coupled receptor 84 (sprot)

description: A G-protein coupled receptor 84 that is encoded in the genome of human.


FCN2_HUMAN Ficolin-2 (sprot)

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


MENTHOL

Any secondary alcohol that is one of the eight possible diastereoisomers of 5-methyl-2-(propan-2-yl)cyclohexan-1-ol.


name: qualitative or quantitative defects of dystrophin


vernal keratoconjunctivitis

description: Vernal keratoconjunctivitis (VKC) is a chronic, severe allergy that affectsthe surfaces of the eyes. It most commonly occurs in boys living in warm, dry climates. Attacks associated with VKC are common in the spring (hence the name 'vernal') and summer but often reoccur in the winter. Signs and symptoms usually begin before 10 years of age and may include hard, cobblestone-like bumps (papillae) on the upper eyelid; sensitivity to light; redness; sticky mucus discharge; andinvoluntary blinking or spasms of the eyelid (blepharospasm).The condition usually subsides at the onset of puberty. It is caused by ahypersensitivity (allergic reaction)to airborne-allergens. Management focuses on preventing 'flare ups' and relieving the symptoms of the condition.


EMB_HUMAN Embigin (sprot)

An embigin that is encoded in the genome of human.


name: CCD80_HUMAN Coiled-coil domain-containing protein 80 (sprot)

description: A coiled-coil domain-containing protein 80 that is encoded in the genome of human.


name: POP1_HUMAN Ribonucleases P/MRP protein subunit POP1 (sprot)

description: A ribonucleases P/MRP protein subunit POP1 that is encoded in the genome of human.


name: PYDC4_HUMAN NLR family pyrin domain-containing protein 2B (sprot)

description: A protein that is a translation product of the NLRP2B gene in human.


name: NPY4R_HUMAN Neuropeptide Y receptor type 4 (sprot)

description: A neuropeptide Y receptor type 4 that is encoded in the genome of human.


aminoacridine

Acridines which are substituted in any position by one or more amino groups or substituted amino groups. Note that the term 'aminoacridine' is the International Prorietary Name (INN) for 9-aminoacridine.


benzyl benzoate

A benzoate ester obtained by the formal condensation of benzoic acid with benzyl alcohol. It has been isolated from the plant species of the genus Polyalthia.


CNTN4_HUMAN Contactin-4 (sprot)

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


name: SNAA_HUMAN Alpha-soluble NSF attachment protein (sprot)

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


name: NAT10_HUMAN RNA cytidine acetyltransferase (sprot)

description: An RNA cytidine acetyltransferase that is encoded in the genome of human.


name: NKX28_HUMAN Homeobox protein Nkx-2.8 (sprot)

description: A homeobox protein Nkx-2.8 that is encoded in the genome of human.


dihydroemetine

A pyridoisoquinoline which was developed in response to the cardiovascular toxicity associated with emetine and results from the dehydrogenation of the heterotricylic ring of emetine. It is an antiprotozoal agent and displays antimalarial, antiamoebic, and antileishmanial properties.


macrocytic anemia

description: Anemia that is characterized by increased red blood cell volume.


name: PIT1_HUMAN Pituitary-specific positive transcription factor 1 (sprot)

description: A pituitary-specific positive transcription factor 1 that is encoded in the genome of human.


name: 3MG_HUMAN DNA-3-methyladenine glycosylase (sprot)

description: A DNA-3-methyladenine glycosylase that is encoded in the genome of human.


name: ACSM1_HUMAN Acyl-coenzyme A synthetase ACSM1, mitochondrial (sprot)

description: An acyl-coenzyme A synthetase ACSM1, mitochondrial that is encoded in the genome of human.


A ubiquinol in which the polyprenyl substituent is decaprenyl.


name: Ras-related protein Rab-34 isoform NARR (human)

description: A Ras-related protein Rab-34 isoform NARR that is encoded in the genome of human.


Lesch-Nyhan syndrome

description: Lesch-Nyhan syndrome (LNS) is the most severe form of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency, a hereditary disorder of purine metabolism, and is associated with uric acid overproduction (UAO), neurological troubles, and behavioral problems.


bunolol

A cyclic ketone that is 3,4-dihydronaphthalen-1-one substituted at position 5 by a 3-(tert-butylamino)-2-hydroxypropoxy group (the S-enantiomer). A non-selective beta-adrenergic antagonist used (as its hydrochloride salt) for treatment of glaucoma.


cardiac sarcoidosis

description: Sarcoidosis affecting the tissues of the heart.


name: ORN_HUMAN Oligoribonuclease, mitochondrial (sprot)

description: An oligoribonuclease, mitochondrial that is encoded in the genome of human.


myocardial disorder

description: A disorder that affects the muscle tissue of the heart. Representative examples include myocardial infarction, myocarditis, and cardiomyopathy.


tris(2-chloroethyl) phosphate

A trialkyl phosphate that is the tris(2-chloroethyl) ester of phosphoric acid.


GALK1_HUMAN Galactokinase (sprot)

A galactokinase that is encoded in the genome of human.


phacoanaphylactic uveitis

description: Intraocular inflammation occurring after extracapsular cataract extraction; probably an immune reaction to the patient's liberated lenticular proteins.


name: AT1B2_HUMAN Sodium/potassium-transporting ATPase subunit beta-2 (sprot)

description: A sodium/potassium-transporting ATPase subunit beta-2 that is encoded in the genome of human.


name: ASGL1_HUMAN Isoaspartyl peptidase/L-asparaginase (sprot)

description: An L-asparaginase that is encoded in the genome of human.


bone inflammation disease

description: Inflammation of the bone.


name: HEXA_HUMAN Beta-hexosaminidase subunit alpha (sprot)

description: A beta-hexosaminidase subunit alpha that is encoded in the genome of human.


schwannoma

description: A benign, usually encapsulated slow growing tumor composed of Schwann cells. It affects peripheral and cranial nerves. It recurs infrequently and only rare cases associated with malignant transformation have been reported.


name: RHG32_HUMAN Rho GTPase-activating protein 32 (sprot)

description: A rho/Cdc42/Rac GTPase-activating protein RICS that is encoded in the genome of human.


name: PCDA5_HUMAN Protocadherin alpha-5 (sprot)

description: A protocadherin alpha-5 that is encoded in the genome of human.


lesinurad

A member of the class of triazoles that is [(3-bromo-1,2,4-triazol-5-yl)sulfanyl]acetic acid substituted at position 1 of the triazole ring by a 4-cyclopropylnaphthalen-1-yl group. Used for treatment of gout.


name: ZFP28_HUMAN Zinc finger protein 28 homolog (sprot)

description: A zinc finger protein 28 homolog that is encoded in the genome of human.


tedizolid

A member of the class of pyridines that is pyridine which is substituted by a 2-methyl-2H-tetrazol-5-yl group at position 2 and by a 2-fluoro-4-[(5R)-5-(hydroxymethyl)-2-oxo-1,3-oxazolidin-3-yl]phenyl group at position 5. It is used as its phosphate pro-drug used for the treatment of acute bacterial skin and skin structure infections caused by certain susceptible bacteria, including Staphylococcus aureus (including methicillin-resistant strains (MRSA) and methicillin-susceptible strains), various Streptococcus species, and Enterococcus faecalis.


MAX_HUMAN Protein max (sprot)

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


congenital hydrocephalus

description: Hydrocephalus that is present at birth.


SH3G1_HUMAN Endophilin-A2 (sprot)

An endophilin-A2 that is encoded in the genome of human.


Darier disease

description: Darier disease (DD) is a keratinization disorder characterized by the development of keratotic papules in seborrheic areas and specific nail anomalies.


name: VPS4A_HUMAN Vacuolar protein sorting-associated protein 4A (sprot)

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


linifanib

A member of the class of phenylureas that is urea in which one of the nitrogens is substituted by a 2-fluoro-5-methylphenyl group, while the other is substituted by a p-(3-amino-1H-indazol-4-yl)phenyl group. It is a potent, selective inhibitor of vascular endothelial growth factor and platelet-derived growth factor receptor tyrosine kinases.


name: SE1L1_HUMAN Protein sel-1 homolog 1 (sprot)

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


chronic cutaneous lupus erythematosus

description: Chronic cutaneous lupus erythematosus (CCLE) is a form of cutaneous lupus erythematosus (CLE) that includes five different forms: discoid lupus erythematosus (DLE), chilblain lupus, hypertrophic or verrucous lupus erythematosus, lupus erythematosus tumidus, and lupus erythematosus panniculitis.


SN_HUMAN Sialoadhesin (sprot)

A sialoadhesin that is encoded in the genome of human.


name: MUSK_HUMAN Muscle, skeletal receptor tyrosine-protein kinase (sprot)

description: A muscle, skeletal receptor tyrosine-protein kinase that is encoded in the genome of human.


SAAL1_HUMAN Protein SAAL1 (sprot)

A protein SAAL1 that is encoded in the genome of human.


SYT7_HUMAN Synaptotagmin-7 (sprot)

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


name: TGM1_HUMAN Protein-glutamine gamma-glutamyltransferase K (sprot)

description: A protein-glutamine gamma-glutamyltransferase K that is encoded in the genome of human.


name: MABP1_HUMAN Mitogen-activated protein kinase-binding protein 1 (sprot)

description: A mitogen-activated protein kinase-binding protein 1 that is encoded in the genome of human.


name: PGM5_HUMAN Phosphoglucomutase-like protein 5 (sprot)

description: A phosphoglucomutase-like protein 5 that is encoded in the genome of human.


name: DGCR8_HUMAN Microprocessor complex subunit DGCR8 (sprot)

description: A microprocessor complex subunit DGCR8 that is encoded in the genome of human.


name: E2AK1_HUMAN Eukaryotic translation initiation factor 2-alpha kinase 1 (sprot)

description: A eukaryotic translation initiation factor 2-alpha kinase 1 that is encoded in the genome of human.


cryptorchidism

description: The failure of one or both testes of a male fetus to descend from the abdomen into the scrotum during the late part of pregnancy. If not surgically corrected in early childhood, males may be at increased risk for testicular cancer later in life.


name: hereditary neuropathy with liability to pressure palsies

description: Hereditary neuropathy with liability to pressure palsies (HNPP) is an inherited peripheral nerve disorder characterized by recurrent mononeuropathy usually triggered by minor physical activities.


name: ATP5S_HUMAN ATP synthase subunit s, mitochondrial (sprot)

description: An ATP synthase subunit s, mitochondrial that is encoded in the genome of human.


name: UBA7_HUMAN Ubiquitin-like modifier-activating enzyme 7 (sprot)

description: A ubiquitin-like modifier-activating enzyme 7 that is encoded in the genome of human.


name: MED15_HUMAN Mediator of RNA polymerase II transcription subunit 15 (sprot)

description: A mediator of RNA polymerase II transcription subunit 15 that is encoded in the genome of human.


name: NIT1_HUMAN Deaminated glutathione amidase (sprot)

description: A deaminated glutathione amidase that is encoded in the genome of human.


name: LIMS1_HUMAN LIM and senescent cell antigen-like-containing domain protein 1 (sprot)

description: A LIM and senescent cell antigen-like-containing domain protein 1 that is encoded in the genome of human.


estriol

A 3-hydroxy steroid that is estra-1,3,5(10)-trien-3-ol substituted by additional hydroxy groups at positions 16 and 17 (16alpha,17beta-stereoisomer).


male breast carcinoma

description: A malignant neoplasm involving the male breast.


name: ANGL6_HUMAN Angiopoietin-related protein 6 (sprot)

description: An angiopoietin-related protein 6 that is encoded in the genome of human.


name: FAN1_HUMAN Fanconi-associated nuclease 1 (sprot)

description: A Fanconi-associated nuclease 1 that is encoded in the genome of human.


name: GATM_HUMAN Glycine amidinotransferase, mitochondrial (sprot)

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


blepharitis

description: Inflammation of the eyelids near the eyelashes.


name: RXRB_HUMAN Retinoic acid receptor RXR-beta (sprot)

description: A retinoic acid receptor RXR-beta that is encoded in the genome of human.


name: YETS4_HUMAN YEATS domain-containing protein 4 (sprot)

description: A YEATS domain-containing protein 4 that is encoded in the genome of human.


2,4-dinitrobenzenesulfonic acid

The arenesulfonic acid that is benzenesulfonic acid with two nitro substituents in the 2- and 4-positions.


RASopathy

description: Developmental syndromes caused by germline mutations (or in rare cases by somatic mosaicism) in genes that alter the Ras subfamily and mitogen-activated protein kinases that control signal transduction.


EEG abnormality

description: Abnormality observed by electroencephalogram (EEG), which is used to record of the brain's spontaneous electrical activity from multiple electrodes placed on the scalp.


name: COEA1_HUMAN Collagen alpha-1(XIV) chain (sprot)

description: A collagen alpha-1(XIV) chain that is encoded in the genome of human.


SELW_HUMAN Selenoprotein W (sprot)

A selenoprotein W that is encoded in the genome of human.


name: CAP2_HUMAN Adenylyl cyclase-associated protein 2 (sprot)

description: An adenylyl cyclase-associated protein 2 that is encoded in the genome of human.


Progressive proximal muscle weakness

description: Lack of strength of the proximal muscles that becomes progressively more severe.


name: Bilateral sensorineural hearing impairment

description: A bilateral form of sensorineural hearing impairment.


early myoclonic encephalopathy

description: Early myoclonic encephalopathy (EME) is characterized clinically by the onset of fragmentary myoclonus appearing in the first month of life, often associated with erratic focal seizures and a suppression-burst EEG pattern.


pulmonary mucoepidermoid carcinoma

description: A lung carcinoma characterized by the presence of malignant non-keratinizing squamoid cells, mucin-producing cells and intermediate type cells.


Thyroid hyperplasia

description: Hyperplasia of the thyroid gland.


name: GTR6_HUMAN Solute carrier family 2, facilitated glucose transporter member 6 (sprot)

description: A solute carrier family 2, facilitated glucose transporter member 6 that is encoded in the genome of human.


MT1H_HUMAN Metallothionein-1H (sprot)

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


name: IGHG3_HUMAN Immunoglobulin heavy constant gamma 3 (sprot)

description: An immunoglobulin heavy constant gamma 3 that is encoded in the genome of human.


name: NMD3_HUMAN 60S ribosomal export protein NMD3 (sprot)

description: A 60S ribosomal export protein NMD3 that is encoded in the genome of human.


poliomyelitis

description: An acute infectious disorder that affects the nervous system. It is caused by the poliovirus. The virus spreads by direct contact, and can be prevented by prophylaxis with the polio vaccine.


name: RASA3_HUMAN Ras GTPase-activating protein 3 (sprot)

description: A Ras GTPase-activating protein 3 that is encoded in the genome of human.


name: VGLL4_HUMAN Transcription cofactor vestigial-like protein 4 (sprot)

description: A transcription cofactor vestigial-like protein 4 that is encoded in the genome of human.


name: RL4_HUMAN Large ribosomal subunit protein uL4 (sprot)

description: A eukaryotic-type large ribosomal subunit protein uL4 that is encoded in the genome of human.


name: FHR5_HUMAN Complement factor H-related protein 5 (sprot)

description: A complement factor H-related protein 5 that is encoded in the genome of human.


THRB_HUMAN Prothrombin (sprot)

A prothrombin that is encoded in the genome of human.


name: SP100_HUMAN Nuclear autoantigen Sp-100 (sprot)

description: A nuclear autoantigen Sp-100 that is encoded in the genome of human.


name: PGAP3_HUMAN Post-GPI attachment to proteins factor 3 (sprot)

description: A post-GPI attachment to proteins factor 3 that is encoded in the genome of human.


name: VPP2_HUMAN V-type proton ATPase 116 kDa subunit a 2 (sprot)

description: A V-type proton ATPase 116 kDa subunit a 2 that is encoded in the genome of human.


name: DIAP3_HUMAN Protein diaphanous homolog 3 (sprot)

description: A protein diaphanous homolog 3 that is encoded in the genome of human.


benzoate

The simplest member of the class of  benzoates that is the conjugate base of benzoic acid, comprising a benzoic acid core with a proton missing to give a charge of -1.


name: CXD3_HUMAN Gap junction delta-3 protein (sprot)

description: A gap junction delta-3 protein that is encoded in the genome of human.


name: CXG1_HUMAN Gap junction gamma-1 protein (sprot)

description: A gap junction gamma-1 protein that is encoded in the genome of human.


name: COX8A_HUMAN Cytochrome c oxidase subunit 8A, mitochondrial (sprot)

description: A cytochrome c oxidase subunit 8A, mitochondrial that is encoded in the genome of human.


name: CCM2_HUMAN Cerebral cavernous malformations 2 protein (sprot)

description: A cerebral cavernous malformations 2 protein that is encoded in the genome of human.


name: LGAT1_HUMAN Acyl-CoA:lysophosphatidylglycerol acyltransferase 1 (sprot)

description: An acyl-CoA:lysophosphatidylglycerol acyltransferase 1 that is encoded in the genome of human.


name: TEAD2_HUMAN Transcriptional enhancer factor TEF-4 (sprot)

description: A transcriptional enhancer factor TEF-4 that is encoded in the genome of human.


name: IF_HUMAN Cobalamin binding intrinsic factor (sprot)

description: A cobalamin binding intrinsic factor that is encoded in the genome of human.


name: TLRN1_HUMAN Talin rod domain-containing protein 1 (sprot)

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


name: NOG2_HUMAN Nucleolar GTP-binding protein 2 (sprot)

description: A nucleolar GTP-binding protein 2 that is encoded in the genome of human.