name: MED26_HUMAN Mediator of RNA polymerase II transcription subunit 26 (sprot)

description: A mediator of RNA polymerase II transcription subunit 26 that is encoded in the genome of human.


name: ITCH_HUMAN E3 ubiquitin-protein ligase Itchy homolog (sprot)

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


piclamilast

A monocarboxylic acid amide resulting from the formal condensation of the carboxy group of 3-(cyclopentyloxy)-4-methoxybenzoic acid with the primary amino group of 3,5-dichloropyridin-4-amine.


echothiophate

The phosphorothioate obtained by formal condensation of diethyl phosphate with N,N,N-trimethyl-2-sulfanylethanaminium. An irreversible acetylcholinesterase inhibitor, its iodide salt is used an ocular antihypertensive in the treatment of open-angle glaucoma, particularly when other drugs have proved inadequate.


name: CCD47_HUMAN PAT complex subunit CCDC47 (sprot)

description: A PAT complex subunit CCDC47 that is encoded in the genome of human.


name: COMT_HUMAN Catechol O-methyltransferase (sprot)

description: A catechol O-methyltransferase that is encoded in the genome of human.


flumazenil

An organic heterotricyclic compound that is 5,6-dihydro-4H-imidazo[1,5-a][1,4]benzodiazepine which is substituted at positions 3, 5, 6, and 8 by ethoxycarbonyl, methyl, oxo, and fluoro groups, respectively. It is used as an antidote to benzodiazepine overdose.


actinic cheilitis

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

description: Cheilitis due to chronic exposure to ultraviolet (UV) radiation. It may increase the risk for the development of invasive squamous cell carcinoma of the lip.


CAH1_HUMAN Carbonic anhydrase 1 (sprot)

A vertebrate-type carbonic anhydrase 1 that is encoded in the genome of human.


SQUARIC ACID DIBUTYL ESTER

A cyclic ketone and diether that is a dibutyl ether derivative of squaric acid.


name: WAPL_HUMAN Wings apart-like protein homolog (sprot)

description: A wings apart-like protein that is encoded in the genome of human.


DSC1_HUMAN Desmocollin-1 (sprot)

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


name: DDX60_HUMAN Probable ATP-dependent RNA helicase DDX60 (sprot)

description: A probable ATP-dependent RNA helicase DDX60 that is encoded in the genome of human.


name: RBM3_HUMAN RNA-binding protein 3 (sprot)

description: An RNA-binding protein 3 that is encoded in the genome of human.


pentaerithrityl tetranitrate

A pentaerythritol nitrate in which all four hydroxy groups of pentaerythritol have been converted to the corresponding nitrate ester. It is a vasodilator with properties similar to those of glyceryl trinitrate, but with a more prolonged duration of action, and is used for treatment of angina pectoris. It is also one of the most powerful high explosives known and is a component of the plastic explosive known as Semtex.


osteoradionecrosis

description: Necrosis of bone following radiation injury.


name: ZO2_HUMAN Tight junction protein ZO-2 (sprot)

description: A tight junction protein ZO-2 that is encoded in the genome of human.


name: UFL1_HUMAN E3 UFM1-protein ligase 1 (sprot)

description: An E3 UFM1-protein ligase 1 that is encoded in the genome of human.


aceruloplasminemia

description: An adult-onset disorder of neurodegeneration with brain iron accumulation (NBIA) characterized by anemia, retinal degeneration, diabetes and various neurological symptoms.


name: BCL9_HUMAN B-cell CLL/lymphoma 9 protein (sprot)

description: A B-cell CLL/lymphoma 9 protein that is encoded in the genome of human.


Eisenmenger syndrome

description: Eisenmenger syndrome (ES) is an form of pulmonary arterial hypertension (PAH) associated with unoperated congenital heart disease and is characterized by congenital heart malformations with reversed or bi-directional shunting through an intra-cardiac or intervascular (usually aorto-pulmonary) communication with the development of PAH.


ITA9_HUMAN Integrin alpha-9 (sprot)

An integrin alpha-9 that is encoded in the genome of human.


name: Z354C_HUMAN Zinc finger protein 354C (sprot)

description: A zinc finger protein 354C that is encoded in the genome of human.


name: NTAL_HUMAN Linker for activation of T-cells family member 2 (sprot)

description: A linker for activation of T-cells family member 2 that is encoded in the genome of human.


chronic neutrophilic leukemia

description: A rare chronic myeloproliferative neoplasm characterized by neutrophilic leukocytosis. There is no detectable Philadelphia chromosome or BCR/ABL fusion gene.


name: NEK4_HUMAN Serine/threonine-protein kinase Nek4 (sprot)

description: A serine/threonine-protein kinase Nek4 that is encoded in the genome of human.


NRSN2_HUMAN Neurensin-2 (sprot)

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


phosphatidylcholine (18:0/20:2)

A 1,2-diacyl-sn-glycero-3-phosphocholine in which one acyl group has 18 carbons and is fully saturated while the other has 20 carbons and 2 double bonds.


D-glucoside

Any glucoside in which the glycoside group is derived from D-glucose.


name: NETO2_HUMAN Neuropilin and tolloid-like protein 2 (sprot)

description: A neuropilin and tolloid-like protein 2 that is encoded in the genome of human.


Hypoventilation

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

description: A reduction in the amount of air transported into the pulmonary alveoli by breathing, leading to hypercapnia (increase in the partial pressure of carbon dioxide).


decamethonium

A quaternary ammonium ion that is a depolarising muscle relaxant whose structure comprises a decane-1,10-diamine core in which each amino group carries three methyl substituents.


benzyl alcohol

An aromatic alcohol that consists of benzene bearing a single hydroxymethyl substituent.


SEPT2_HUMAN Septin-2 (sprot)

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


name: FRRS1_HUMAN Ferric-chelate reductase 1 (sprot)

description: A ferric-chelate reductase 1 that is encoded in the genome of human.


intravascular large B-cell lymphoma

description: Intravascular large B-cell lymphoma (IVLBCL) is a very rare form of diffuse large B-cell lymphoma characterized by the selective growth of lymphoma cells within the lumina of small blood vessels (especially the capillaries) that most often presents with a wide range of clinical manifestations (as potentially any tissue can be involved), with patients from Western countries more frequently manifesting with neurological and cutaneous symptoms while patients from Asian countries more frequently displaying hepatosplenomegaly and thrombocytopenia. IVLBCL is characterized by an absence of lymphadenopathy, an aggressive clinical course and a poor prognosis.


diethyltoluamide

A monocarboxylic acid amide resulting from the formal condensation of the carboxy group of m-toluic acid with the nitrogen of diethylamine. First developed by the U.S. Army in 1946 for use by military personnel in insect-infested areas, it is the most widely used insect repellent worldwide.


name: LSM1_HUMAN U6 snRNA-associated Sm-like protein LSm1 (sprot)

description: A U6 snRNA-associated Sm-like protein LSm1 that is encoded in the genome of human.


name: AP1B1_HUMAN AP-1 complex subunit beta-1 (sprot)

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


name: BIN3_HUMAN Bridging integrator 3 (sprot)

description: A bridging integrator 3 that is encoded in the genome of human.


name: LUZP1_HUMAN Leucine zipper protein 1 (sprot)

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


lumacaftor

An aromatic amide obtained by formal condensation of the carboxy group of 1-(2,2-difluoro-1,3-benzodioxol-5-yl)cyclopropane-1-carboxylic acid with the aromatic amino group of 3-(6-amino-3-methylpyridin-2-yl)benzoic acid. Used for the treatment of cystic fibrosis.


OMD_HUMAN Osteomodulin (sprot)

An osteomodulin that is encoded in the genome of human.


name: GCP3_HUMAN Gamma-tubulin complex component 3 (sprot)

description: A gamma-tubulin complex component 3 that is encoded in the genome of human.


name: inherited glutathione synthetase deficiency

description: Glutathione synthetase deficiency is characterized by hemolytic anemia, associated with metabolic acidosis and 5-oxoprolinuria in moderate forms, and with progressive neurological symptoms and recurrent bacterial infections in the most severe forms.


A dinitroglycerol that is glycerol in which both of the primary hydroxy groups have been converted to the corresponding nitrate estes.


name: EMC6_HUMAN ER membrane protein complex subunit 6 (sprot)

description: An ER membrane protein complex subunit 6 that is encoded in the genome of human.


NEDD1_HUMAN Protein NEDD1 (sprot)

A protein NEDD1 that is encoded in the genome of human.


N-acetyl-L-methionine

An L-methionine derivative that is L-methionine in which one of the amine hydrogens is substituted by an acetyl group.


carnosinemia

description: Carnosinemia is a very rare inherited disorder that presents with serum carnosinase deficiency.


Ketoacidosis

description: Acidosis resulting from accumulation of ketone bodies.


name: AACS_HUMAN Acetoacetyl-CoA synthetase (sprot)

description: An acetoacetyl-CoA synthetase that is encoded in the genome of human.


gallbladder neoplasm

description: A neoplasm (disease) that involves the gall bladder.


Kenny-Caffey syndrome

description: A genetic condition characterized by long bone sclerosis and thickening, short stature, and head and eye anomalies. Many affected individuals have hypoparathyroidism with hypocalcemia.


ORAI3_HUMAN Protein orai-3 (sprot)

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


ORAI2_HUMAN Protein orai-2 (sprot)

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


name: TGIF2_HUMAN Homeobox protein TGIF2 (sprot)

description: A homeobox protein TGIF2 that is encoded in the genome of human.


name: KT33A_HUMAN Keratin, type I cuticular Ha3-I (sprot)

description: A keratin, type I cuticular Ha3-I that is encoded in the genome of human.


name: CBX5_HUMAN Chromobox protein homolog 5 (sprot)

description: A chromobox protein homolog 5 that is encoded in the genome of human.


name: PLD6_HUMAN Mitochondrial cardiolipin hydrolase (sprot)

description: A phospholipase D6 that is encoded in the genome of human.


Asplenia

description: Absence (aplasia) of the spleen.


parasitic infectious disease

description: A successful invasion of a host by an organism that uses the host for food and shelter.


name: ZBT32_HUMAN Zinc finger and BTB domain-containing protein 32 (sprot)

description: A zinc finger and BTB domain-containing protein 32 that is encoded in the genome of human.


INDACATEROL MALEATE

A maleate salt obtained by reaction of indacaterol with one equivalent of maleic acid. Used for treatment of chronic obstructive pulmonary disease.


name: TGM3L_HUMAN Protein-glutamine gamma-glutamyltransferase 6 (sprot)

description: A protein-glutamine gamma-glutamyltransferase 6 that is encoded in the genome of human.


Lymphocytosis

description: Increase in the number or proportion of lymphocytes in the blood.


name: FOXI1_HUMAN Forkhead box protein I1 (sprot)

description: A forkhead box protein I1 that is encoded in the genome of human.


BEVIRIMAT

A pentacyclic triterpenoid obtained by the formal condensation of 2,2-dimethylsuccinic acid with the 3-hydroxy group of betulinic acid. It is isolated from the Chinese herb Syzygium claviflorum. The first in the class of HIV-1 maturation inhibitors to be studied in humans, bevirimat was identified as a potent HIV drug candidate and several clinical trials were conducted, but development into a new drug was plagued by numerous resistance-related problems.


name: CC115_HUMAN Coiled-coil domain-containing protein 115 (sprot)

description: A coiled-coil domain-containing protein 115 that is encoded in the genome of human.


name: CBPC6_HUMAN Cytosolic carboxypeptidase 6 (sprot)

description: A cytosolic carboxypeptidase 6 that is encoded in the genome of human.


ICAL_HUMAN Calpastatin (sprot)

A calpastatin that is encoded in the genome of human.


description: Virus-associated trichodysplasia spinulosa is a rare infectious skin disease characterized by the development of follicular papules with keratin spicules in various parts of the body, predominantly in the face (e.g. nose, eyebrows, auricles), that is due to polyomavirus infection in immunocompromized patients.


AQP11_HUMAN Aquaporin-11 (sprot)

An aquaporin-11 that is encoded in the genome of human.


phosphatidylcholine (16:1/18:2)

A phosphatidylcholine 34:3 in which the fatty acyl groups at positions 1 and 2 are specified as C16:1 and C18:2 respectively.


cystinuria

description: Cystinuria is a renal tubular amino acid transport disorder characterized by recurrent formation of kidneys cystine stones.


MEVALONIC ACID

The (R)-enantiomer of mevalonic acid.


mevalonic aciduria

description: Mevalonic aciduria (MVA) is a rare, very severe form of mevalonate kinase deficiency (MKD) characterized by dysmorphic features, failure to thrive, psychomotor delay, ocular involvement, hypotonia, progressive ataxia, myopathy, and recurrent inflammatory episodes.


name: PNO1_HUMAN RNA-binding protein PNO1 (sprot)

description: An RNA-binding protein PNO1 that is encoded in the genome of human.


ptosis

description: The drooping of the upper eyelid.


SEM3B_HUMAN Semaphorin-3B (sprot)

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


PLXA2_HUMAN Plexin-A2 (sprot)

A plexin-A2 that is encoded in the genome of human.


streptococcal meningitis

description: An infectious meningitis caused by infection with Streptococcus.


acquired thrombocytopenia

description: An instance of thrombocytopenia that is acquired during the lifetime of the individual.


entacapone

A monocarboxylic acid amide that is N,N-diethylprop-2-enamide in which the hydrogen at position 2 is substituted by a cyano group and the hydrogen at the 3E position is substituted by a 3,4-dihydroxy-5-nitrophenyl group.


peritoneal mesothelioma

description: A benign or malignant mesothelial neoplasm that arises from the peritoneum.


name: CXG2_HUMAN Gap junction gamma-2 protein (sprot)

description: A gap junction gamma-2 protein that is encoded in the genome of human.


familial hypercholesterolemia

description: An inheritable form of hyperlipidemia, in which there are excess lipids in the blood.


SPA12_HUMAN Serpin A12 (sprot)

A serpin A12 that is encoded in the genome of human.


ocular toxoplasmosis

description: Ocular toxoplasmosis is an infection in the eye caused by the parasite, Toxoplasm a gondii. Toxoplasmosis is the most common cause of eye inflammation in the world. Toxoplamosis can beacquired or present at birth (congenital), having crossed the placenta from a newly infected mother to her fetus. Most humans acquire toxoplasmosis by eating raw or undercooked meat, vegetables or milk products, or by coming into contact with infected cat litterbox or sandboxes.In humans,the infectionusually causes no symptoms, and resolves without treatment in a few months. In individuals with compromised immune systems, Toxoplasm a gondii can reactivate to cause disease. Reactivation of a congenital infection was traditionally thought to be the most common cause ofocular toxoplasmosis, but an acquired infection is now considered to be more common. A toxoplasmosis infection that affects the eye usually attacks the retina andinitially resolves without symptoms. However,the inactive parasite maylaterreactivate causing eyepain, blurred vision, and possibly permanent damage, including blindness. Although most cases of toxoplasmosis resolve on their own,for some,inflammation can be treated with antibiotics and steroids.


alveolar echinococcosis

description: Alveolar echinococcosis (AE) is a rare parasitic disorder that occurs after ingestion of eggs of Echinococcus multilocularis. AE is characterized by an initial asymptomatic incubation period of many years followed by a chronic course where the clinical manifestations include epigastric pain and jaundice.


CLSPN_HUMAN Claspin (sprot)

A claspin that is encoded in the genome of human.


name: MAMC2_HUMAN MAM domain-containing protein 2 (sprot)

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


name: RNF5_HUMAN E3 ubiquitin-protein ligase RNF5 (sprot)

description: An E3 ubiquitin-protein ligase RNF5 that is encoded in the genome of human.


name: BTAF1_HUMAN TATA-binding protein-associated factor 172 (sprot)

description: A TATA-binding protein-associated factor 172 that is encoded in the genome of human.


NC2B_HUMAN Protein Dr1 (sprot)

A protein Dr1 that is encoded in the genome of human.


lateral sclerosis

description: Primary lateral sclerosis (PLS) is an idiopathic non-familial motor neuron disease characterized by slowly progressive upper motor neuron dysfunction leading to spasticity, mild weakness in voluntary muscle movement, hyperreflexia, and loss of motor speech production.


EPB42_HUMAN Protein 4.2 (sprot)

A protein 4.2 that is encoded in the genome of human.


name: GA45G_HUMAN Growth arrest and DNA damage-inducible protein GADD45 gamma (sprot)

description: A growth arrest and DNA damage-inducible protein GADD45 gamma that is encoded in the genome of human.


name: HLAG_HUMAN HLA class I histocompatibility antigen, alpha chain G (sprot)

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


name: IPYR_HUMAN Inorganic pyrophosphatase (sprot)

description: An inorganic pyrophosphatase that is encoded in the genome of human.


name: DAPP1_HUMAN Dual adapter for phosphotyrosine and 3-phosphotyrosine and 3-phosphoinositide (sprot)

description: A dual adapter for phosphotyrosine and 3-phosphotyrosine and 3-phosphoinositide that is encoded in the genome of human.


name: S35A4_HUMAN Probable UDP-sugar transporter protein SLC35A4 (sprot)


CERU_HUMAN Ceruloplasmin (sprot)

A ceruloplasmin that is encoded in the genome of human.


Diffuse cerebral atrophy

description: Diffuse unlocalised atrophy affecting the cerebrum.


CANAVANINE

L-Canavanine in zwitterionic form.


Hippocampal sclerosis

description: Hippocampal sclerosis is a neuropathologic finding characterized by neuronal loss and gliosis in the CA-1 and subiculum of the hippocampus.


Mycoplasma pneumoniae pneumonia

description: Interstitial pneumonia caused by extensive infection of the lungs (lung) and bronchi, particularly the lower lobes of the lungs, by mycoplasma pneumoniae in humans. In sheep, it is caused by mycoplasma ovipneumoniae. In cattle, it may be caused by mycoplasma dispar.


name: SCRT1_HUMAN Transcriptional repressor scratch 1 (sprot)

description: A transcriptional repressor scratch 1 that is encoded in the genome of human.


fleroxacin

A fluoroquinolone antibiotic that is 4-oxo-1,4-dihydroquinoline which is substituted at positions 1, 3, 6, 7 and 8 by 2-fluoroethyl, carboxy, fluoro, 4-methylpiperazin-1-yl and fluoro groups, respectively. It is active against many Gram-positive and Gram-negative bacteria.


name: RT18B_HUMAN Small ribosomal subunit protein mS40 (sprot)

description: A small ribosomal subunit protein mS40 that is encoded in the genome of human.


name: MK67I_HUMAN MKI67 FHA domain-interacting nucleolar phosphoprotein (sprot)

description: An MKI67 FHA domain-interacting nucleolar phosphoprotein that is encoded in the genome of human.


SEP12_HUMAN Septin-12 (sprot)

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


name: APRV1_HUMAN Retroviral-like aspartic protease 1 (sprot)

description: A retroviral-like aspartic protease 1 that is encoded in the genome of human.


name: FMO1_HUMAN Flavin-containing monooxygenase 1 (sprot)

description: A flavin-containing monooxygenase 1 that is encoded in the genome of human.


ertapenem

Meropenem in which the one of the two methyl groups attached to the amide nitrogen is replaced by hydrogen while the other is replaced by a 3-carboxyphenyl group. The sodium salt is used for the treatment of moderate to severe susceptible infections including intra-abdominal  and acute gynaecological infections, pneumonia, and infections of the skin and of the urinary tract.


name: ADIRF_HUMAN Adipogenesis regulatory factor (sprot)

description: An adipogenesis regulatory factor that is encoded in the genome of human.


name: STAC2_HUMAN SH3 and cysteine-rich domain-containing protein 2 (sprot)

description: An SH3 and cysteine-rich domain-containing protein 2 that is encoded in the genome of human.


name: RGS6_HUMAN Regulator of G-protein signaling 6 (sprot)

description: A regulator of G-protein signaling 6 that is encoded in the genome of human.


name: PCYOX_HUMAN Prenylcysteine oxidase 1 (sprot)

description: A prenylcysteine oxidase 1 that is encoded in the genome of human.


sodium alginate

A copolymer macromolecule composed of homopolymeric blocks of 1->4-linked homopolymeric blocks of 1->4-linked sodium beta-D-mannuronate and sodium alpha-L-guluronate residues, covalently linked together in different sequences or blocks. The sodium salt of alginic acid.


Overweight

description: Increased body weight with a body mass index of 25-29.9 kg per square meter.


name: GBG4_HUMAN Guanine nucleotide-binding protein G(I)/G(S)/G(O) subunit gamma-4 (sprot)

description: A guanine nucleotide-binding protein G(I)/G(S)/G(O) subunit gamma-4 that is encoded in the genome of human.


lacrimal gland carcinoma

description: A carcinoma that arises from epithelial cells of the lacrimal gland.


CP3A5_HUMAN Cytochrome P450 3A5 (sprot)

A cytochrome P450 3A5 that is encoded in the genome of human.


name: NAF1_HUMAN H/ACA ribonucleoprotein complex non-core subunit NAF1 (sprot)

description: An H/ACA ribonucleoprotein complex non-core subunit NAF1 that is encoded in the genome of human.


name: RIN1_HUMAN Ras and Rab interactor 1 (sprot)

description: A Ras and Rab interactor 1 that is encoded in the genome of human.


name: RAB25_HUMAN Ras-related protein Rab-25 (sprot)

description: A Ras-related protein Rab-25 that is encoded in the genome of human.


ISOLITHOCHOLIC ACID

A monohydroxy-5beta-cholanic acid with a beta-hydroxy substituent at position 3. The 3beta-hydroxy epimer of lithocholic acid.


name: ARHG6_HUMAN Rho guanine nucleotide exchange factor 6 (sprot)

description: A Rho guanine nucleotide exchange factor 6 that is encoded in the genome of human.


oxamate

A monocarboxylic acid anion arising from deprotonation of the carboxy group of oxamic acid.


name: SIG10_HUMAN Sialic acid-binding Ig-like lectin 10 (sprot)

description: A sialic acid-binding Ig-like lectin 10 that is encoded in the genome of human.


SNCAP_HUMAN Synphilin-1 (sprot)

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


name: JHD2C_HUMAN Probable JmjC domain-containing histone demethylation protein 2C (sprot)

description: A probable JmjC domain-containing histone demethylation protein 2C that is encoded in the genome of human.


legionellosis

description: Any disease caused by Legionella bacteria.


diphenylamine-2-carboxylic acid

An aminobenzoic acid that is the N-phenyl derivative of  anthranilic acid. It acts as a parent skeleton for the synthesis of several non-steroidal anti-inflammatory drugs.


name: GBB4_HUMAN Guanine nucleotide-binding protein subunit beta-4 (sprot)

description: A guanine nucleotide-binding protein subunit beta-4 that is encoded in the genome of human.


name: ERAL1_HUMAN GTPase Era, mitochondrial (sprot)

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


phosphatidylethanolamine (18:1/22:4)

A phosphatidylethanolamine in which one acyl group has 18 carbons and 1 double bond while the other has 22 carbons and 4 double bonds.


chorioamnionitis

description: A morphologic finding indicating inflammation of the fetal sac membranes. It is characterized by neutrophilic infiltration of the amnion and chorion.


name: DX39B_HUMAN Spliceosome RNA helicase DDX39B (sprot)

description: A spliceosome RNA helicase BAT1 that is encoded in the genome of human.


name: RIN2_HUMAN Ras and Rab interactor 2 (sprot)

description: A Ras and Rab interactor 2 that is encoded in the genome of human.


name: AXA81_HUMAN Annexin A8-like protein 1 (sprot)

description: An annexin A8-like protein 1 that is encoded in the genome of human.


name: 3BHS1_HUMAN 3 beta-hydroxysteroid dehydrogenase/Delta 5-->4-isomerase type 1 (sprot)

description: A 3 beta-hydroxysteroid dehydrogenase/Delta 5-->4-isomerase type 1 that is encoded in the genome of human.


name: NR6A1_HUMAN Nuclear receptor subfamily 6 group A member 1 (sprot)

description: A nuclear receptor subfamily 6 group A member 1 that is encoded in the genome of human.


2-furoic acid

A furoic acid having the carboxylic acid group located at position 2.


CNN3_HUMAN Calponin-3 (sprot)

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


nasopharyngeal squamous cell carcinoma

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


name: ERG_HUMAN Transcriptional regulator ERG (sprot)

description: A transcriptional regulator ERG that is encoded in the genome of human.


name: SDF2L_HUMAN Stromal cell-derived factor 2-like protein 1 (sprot)

description: A stromal cell-derived factor 2-like protein 1 that is encoded in the genome of human.


name: ATG9B_HUMAN Autophagy-related protein 9B (sprot)

description: An autophagy-related protein 9B that is encoded in the genome of human.


name: CSN8_HUMAN COP9 signalosome complex subunit 8 (sprot)

description: A COP9 signalosome complex subunit 8 that is encoded in the genome of human.


name: ZCH14_HUMAN Zinc finger CCHC domain-containing protein 14 (sprot)

description: A zinc finger CCHC domain-containing protein 14 that is encoded in the genome of human.


2-hydroxyoleic acid

A 2-hydroxy fatty acid that is  oleic acid  which carries a hydroxy group at position 2. It is an orally bioavailable synthetic hydroxylated fatty acid which modulates the lipid content of cancer cell membranes and induces cell cycle arrest and apoptosis in several cancer cell lines.


hereditary antithrombin deficiency

description: A rare, genetic, hematological disease characterized by decreased levels of antithrombin activity in plasma resulting in impaired inactivation of thrombin and factor Xa. Patients have an increased risk for venous thromboembolism, usually in the deep veins of the arms, legs and pulmonary system and, on occasion, in other venous territories (e.g. cerebral veins or sinus, mesenteric, portal, hepatic, renal and/or retinal veins).


bacterial conjunctivitis

description: Inflammation of the conjunctiva caused by a variety of bacterial agents.


name: 3BP5_HUMAN SH3 domain-binding protein 5 (sprot)

description: An SH3 domain-binding protein 5 that is encoded in the genome of human.


name: LTOR5_HUMAN Ragulator complex protein LAMTOR5 (sprot)

description: A hepatitis B virus X-interacting protein that is encoded in the genome of human.


hemangioblastoma

description: Hemangioblastoma is a rare, benign, highly vascularized tumor of the central nervous system, most often located in the cerebellum or spinal cord, presenting in adulthood and manifesting with dizziness, nausea, malaise, headache, bladder or bowel dysfunction, numbness, weakness and pain in the upper or lower extremities, and often associated with von Hippel-Lindau disease (VHL). Exceptional cases of hemangioblastoma arising outside of the central nervous system have been reported.


latent autoimmune diabetes in adults

description: A type 1 diabetes mellitus that is characterized by a less intensive autoimmune process, highly variable β-cell destruction, different degrees of insulin resistance and heterogeneous titre and pattern of islet autoantibody, sharing features with both type 1 and type 2 diabetes mellitus.


name: LHX4_HUMAN LIM/homeobox protein Lhx4 (sprot)

description: A LIM/homeobox protein Lhx4 that is encoded in the genome of human.


SSXT_HUMAN Protein SSXT (sprot)

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


name: ARHGA_HUMAN Rho guanine nucleotide exchange factor 10 (sprot)

description: A Rho guanine nucleotide exchange factor 10 that is encoded in the genome of human.


DEST_HUMAN Destrin (sprot)

A destrin that is encoded in the genome of human.


aristolochic acids

Organic heterotetracyclic compounds which are a group of nitro phenanthrene organic acids, naturally found in many kinds of plants, such as Aristolochia and Asarum, and widely cultivated in Asia.They are identified as a class 1 human carcinogen by the International Agency for Research on Cancer owing to their carcinogenicity and nephrotoxicity and can pose a significant hazard to food safety and human health.


name: HHLA2_HUMAN HERV-H LTR-associating protein 2 (sprot)

description: A HERV-H LTR-associating protein 2 that is encoded in the genome of human.


name: MAGA6_HUMAN Melanoma-associated antigen 6 (sprot)

description: A melanoma-associated antigen 6 that is encoded in the genome of human.


propamidine

A polyether that is the bis(4-guanidinophenyl) ether of propane-1,3-diol. Used (as its isethionate salt) for the treatment of minor eye or eyelid infections, such as conjunctivitis and blepharitis.


morin

A pentahydroxyflavone that is 7-hydroxyflavonol bearing three additional hydroxy substituents at positions 2' 4' and 5.


name: MTEF4_HUMAN Transcription termination factor 4, mitochondrial (sprot)

description: A transcription termination factor 4, mitochondrial that is encoded in the genome of human.


ATLA2_HUMAN Atlastin-2 (sprot)

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


xanthinuria type II

description: Type II xanthinuria, a type of classical xanthinuria, is a rare autosomal recessive disorder of purine metabolism characterized by the deficiency of both xanthine dehydrogenase and aldehyde oxidase, leading to the formation of urinary xanthine urolithiasis and leading, in some patients, to kidney failure. Other less common manifestations include arthropathy, myopathy and duodenal ulcer, while some patients remain asymptomatic.


name: MAGAB_HUMAN Melanoma-associated antigen 11 (sprot)

description: A melanoma-associated antigen 11 that is encoded in the genome of human.


CNN1_HUMAN Calponin-1 (sprot)

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


name: SETD6_HUMAN N-lysine methyltransferase SETD6 (sprot)

description: An N-lysine methyltransferase SETD6 that is encoded in the genome of human.


name: AIPL1_HUMAN Aryl-hydrocarbon-interacting protein-like 1 (sprot)

description: An aryl-hydrocarbon-interacting protein-like 1 that is encoded in the genome of human.


name: SERC2_HUMAN Serine incorporator 2 (sprot)

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


CAJANOL

A  hydroxyisoflavanone that is (3S)-isoflavanone substituted by hydroxy groups at positions 5 and 4' and methoxy groups at positions 7 and 2' respectively. It has been isolated from Crotalaria lachnophora.


formestane

A 17-oxo steroid that is androst-4-ene-3,17-dione in which the hydrogen at position 4 is replaced by a hydroxy group. Formestane was the first selective, type I steroidal aromatase inhibitor, suppressing oestrogen production from anabolic steroids or prohormones. It was formerly used in the treatment of oestrogen-receptor positive breast cancer in post-meopausal women. As it has poor oral bioavailability, it had to be administered by (fortnightly) intramuscular injection. It fell out of use with the subsequent development of cheaper, orally active aromatase inhibitors. Formestane is listed by the World Anti-Doping Agency as a substance prohibited from use by athletes.


MEMO1_HUMAN Protein MEMO1 (sprot)

A protein MEMO1 that is encoded in the genome of human.


name: SPRE3_HUMAN Sprouty-related, EVH1 domain-containing protein 3 (sprot)

description: A sprouty-related, EVH1 domain-containing protein 3 that is encoded in the genome of human.


name: ZDH17_HUMAN Palmitoyltransferase ZDHHC17 (sprot)

description: A palmitoyltransferase ZDHHC17 that is encoded in the genome of human.


name: SPT32_HUMAN Spermatogenesis-associated protein 32 (sprot)

description: A spermatogenesis-associated protein 32 that is encoded in the genome of human.


name: MKNK2_HUMAN MAP kinase-interacting serine/threonine-protein kinase 2 (sprot)

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


name: HNRL1_HUMAN Heterogeneous nuclear ribonucleoprotein U-like protein 1 (sprot)

description: A heterogeneous nuclear ribonucleoprotein U-like protein 1 that is encoded in the genome of human.


name: RET2_HUMAN Retinol-binding protein 2 (sprot)

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


name: ANGL3_HUMAN Angiopoietin-related protein 3 (sprot)

description: An angiopoietin-related protein 3 that is encoded in the genome of human.


description: A hepatocellular carcinoma that develops following exposure to aflatoxin.


name: DUS10_HUMAN Dual specificity protein phosphatase 10 (sprot)

description: A dual specificity protein phosphatase 10 that is encoded in the genome of human.


name: SCMC1_HUMAN Mitochondrial adenyl nucleotide antiporter SLC25A24 (sprot)

description: A mitochondrial adenyl nucleotide antiporter SLC25A24 that is encoded in the genome of human.


pilomatrixoma

description: Pilomatrixoma is a rare and benign hair cell-derived tumor occurring mostly in young adults (usually under the age of 20) and characterized as a 3-30 mm solitary, painless, firm, mobile, deep dermal or subcutaneous tumor, most commonly found in the head, neck or upper extremities. When superficial, the tumors tint the skin blue-red. Multiple pilomatrixomas are seen in myotonic dystrophy, Gardner syndrome, Rubinstein-Taybi syndrome, and Turner syndrome.


name: OPRK_HUMAN Kappa-type opioid receptor (sprot)

description: A kappa-type opioid receptor that is encoded in the genome of human.


epidermolytic acanthoma

description: A benign epithelial verrucous lesion of the skin. Morphologically, it is characterized by the presence of epidermolytic hyperkeratosis and papillomatosis.


name: RAN_HUMAN GTP-binding nuclear protein Ran (sprot)

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


name: PDE7A_HUMAN High affinity 3',5'-cyclic-AMP phosphodiesterase 7A (sprot)

description: A high affinity 3',5'-cyclic-AMP phosphodiesterase 7A that is encoded in the genome of human.


branch retinal artery occlusion

description: An occlusion of a branch of the retinal artery.


trichloroacetaldehyde

An organochlorine compound that consists of  acetaldehyde where all the methyl hydrogens are replaced by chloro groups.


name: JMJD7_HUMAN Bifunctional peptidase and (3S)-lysyl hydroxylase JMJD7 (sprot)

description: A bifunctional peptidase and (3S)-lysyl hydroxylase JMJD7 that is encoded in the genome of human.


name: UBP36_HUMAN Ubiquitin carboxyl-terminal hydrolase 36 (sprot)

description: A ubiquitin carboxyl-terminal hydrolase 36 that is encoded in the genome of human.


PLPP_HUMAN Chronophin (sprot)

A pyridoxal phosphate phosphatase that is encoded in the genome of human.


glutaric aciduria

description: The concentration of glutaric acid in the urine, normalized for urine concentration, is above the upper limit of normal.


name: TOM40_HUMAN Mitochondrial import receptor subunit TOM40 homolog (sprot)

description: A mitochondrial import receptor subunit TOM40 that is encoded in the genome of human.


bone Paget disease

description: A disease of bone that initially results in the excessive resorption of bone (by osteoclasts) followed by the replacement of normal bone marrow with vascular and fibrous tissue.


PAPP2_HUMAN Pappalysin-2 (sprot)

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


name: CBR1_HUMAN Carbonyl reductase [NADPH] 1 (sprot)

description: A carbonyl reductase [NADPH] 1 that is encoded in the genome of human.


name: NCAM2_HUMAN Neural cell adhesion molecule 2 (sprot)

description: A neural cell adhesion molecule 2 that is encoded in the genome of human.


name: SLIK5_HUMAN SLIT and NTRK-like protein 5 (sprot)

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


magnesium citrate

A magnesium salt composed of magnesium and citrate ions in a 3:2 ratio.


name: PTN14_HUMAN Tyrosine-protein phosphatase non-receptor type 14 (sprot)

description: A tyrosine-protein phosphatase non-receptor type 14 that is encoded in the genome of human.


name: ATS10_HUMAN A disintegrin and metalloproteinase with thrombospondin motifs 10 (sprot)

description: An a disintegrin and metalloproteinase with thrombospondin motifs 10 that is encoded in the genome of human.


name: BAG6_HUMAN Large proline-rich protein BAG6 (sprot)

description: A large proline-rich protein BAT3 that is encoded in the genome of human.


Persistent viremia

description: Persistence of virus in the blood circulation longer than would be normal in an immunocompetent host.


dysentery

description: Acute inflammation of the intestine associated with infectious diarrhea of various etiologies, generally acquired by eating contaminated food containing toxins, biological derived from bacteria or other microorganisms. Dysentery is characterized initially by watery feces then by bloody mucoid stools. It is often associated with abdominal pain; fever; and dehydration.


name: ENR1_HUMAN Endogenous retrovirus group 3 member 1 Env polyprotein (sprot)

description: An endogenous retrovirus group 3 member 1 Env polyprotein that is encoded in the genome of human.


Weight loss

description: Reduction of total body weight.


ceftobiprole

A fifth-generation cephalosporin antibiotic having (E)-[(3'R)-2-oxo[1,3'-bipyrrolidin]-3-ylidene]methyl and [(2Z)-2-(5-amino-1,2,4-thiadiazol-3-yl)-2-(hydroxyimino)acetyl]amino side groups located at positions 3 and 7 respectively; developed for the treatment of hospital-acquired pneumonia (HAP, excluding ventilator-associated pneumonia, VAP) and community-acquired pneumonia (CAP).


name: H2A2A_HUMAN Histone H2A type 2-A (sprot)

description: A histone H2A type 2-A that is encoded in the genome of human.


name: PGLT1_HUMAN Protein O-glucosyltransferase 1 (sprot)

description: A protein O-glucosyltransferase 1 that is encoded in the genome of human.


thiethylperazine

A member of the class of phenothiazines that is perazine substituted by a ethylsulfanyl group at position 2.


name: PRIC2_HUMAN Prickle-like protein 2 (sprot)

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


HOMOVANILLIC ACID

A monocarboxylic acid that is the 3-O-methyl ether of (3,4-dihydroxyphenyl)acetic acid. It is a catecholamine metabolite.


name: HECD2_HUMAN Probable E3 ubiquitin-protein ligase HECTD2 (sprot)

description: A probable E3 ubiquitin-protein ligase HECTD2 that is encoded in the genome of human.


name: RAMP3_HUMAN Receptor activity-modifying protein 3 (sprot)

description: A receptor activity-modifying protein 3 that is encoded in the genome of human.


roburic acid

A tetracyclic triterpenoid with formula C30H40O2 that is isolated from the roots of Gentiana dahurica and Gentiana macrophylla.


name: DAZP1_HUMAN DAZ-associated protein 1 (sprot)

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


name: RBM4_HUMAN RNA-binding protein 4 (sprot)

description: An RNA-binding protein 4 that is encoded in the genome of human.


name: PLCB3_HUMAN 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-3 (sprot)

description: A 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-3 that is encoded in the genome of human.


name: ANKH1_HUMAN Ankyrin repeat and KH domain-containing protein 1 (sprot)

description: An ankyrin repeat and KH domain-containing protein 1 that is encoded in the genome of human.


name: IF4B_HUMAN Eukaryotic translation initiation factor 4B (sprot)

description: A eukaryotic translation initiation factor 4B that is encoded in the genome of human.


ospemifene

An organochlorine compound that is a selective estrogen receptor modulator; used for treatment of dyspareunia.


name: INKA2_HUMAN PAK4-inhibitor INKA2 (sprot)

description: A PAK4-inhibitor INKA2 that is encoded in the genome of human.


plastic bronchitis

description: A lymphatic flow disorder that causes severe respiratory issues. In children with plastic bronchitis, lymph fluid builds in the airways and forms rubbery or caulk-like plugs (known as casts). These casts block the airways, making it difficult to breathe.


name: S6A15_HUMAN Sodium-dependent neutral amino acid transporter B(0)AT2 (sprot)

description: A sodium-dependent neutral amino acid transporter B(0)AT2 that is encoded in the genome of human.


MONOPHOSPHOTHIAMINE

An organic chloride salt of thiamine(1+) monophosphate.


name: UQCC2_HUMAN Ubiquinol-cytochrome c reductase complex assembly factor 2 (sprot)

description: A ubiquinol-cytochrome c reductase complex assembly factor 2 that is encoded in the genome of human.


name: MARE1_HUMAN Microtubule-associated protein RP/EB family member 1 (sprot)

description: A microtubule-associated protein RP/EB family member 1 that is encoded in the genome of human.


name: CDX1_HUMAN Homeobox protein CDX-1 (sprot)

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


name: S41A1_HUMAN Solute carrier family 41 member 1 (sprot)

description: A solute carrier family 41 member 1 that is encoded in the genome of human.


Global brain atrophy

description: Unlocalized atrophy of the brain with decreased total brain matter volume and increased ventricular size.


spermatogenic failure 6

description: Any azoospermia in which the cause of the disease is a mutation in the SPATA16 gene.


name: UBP28_HUMAN Ubiquitin carboxyl-terminal hydrolase 28 (sprot)

description: A ubiquitin carboxyl-terminal hydrolase 28 that is encoded in the genome of human.


apolipoprotein

Protein component on the surface of lipoprotein.


name: ABRX2_HUMAN BRISC complex subunit Abraxas 2 (sprot)

description: A BRISC complex subunit Abraxas 2 that is encoded in the genome of human.


CIS/TRANS-ISOEUGENOL

A phenylpropanoid that is an isomer of eugenol in which the allyl substituent is replaced by a prop-1-enyl group.


EOSIN Y SODIUM

An organic sodium salt that is 2',4',5',7'-tetrabromofluorescein in which the carboxy group and the phenolic hydroxy group have been deprotonated and the resulting charge is neutralised by two sodium ions.


CAMALEXIN

An indole phytoalexin that is indole substituted at position 3 by a 1,3-thiazol-2-yl group.


name: SPAG5_HUMAN Sperm-associated antigen 5 (sprot)

description: A sperm-associated antigen 5 that is encoded in the genome of human.


name: ADRB2_HUMAN Beta-2 adrenergic receptor (sprot)

description: A beta-2 adrenergic receptor that is encoded in the genome of human.


grazoprevir

An azamacrocyclic compound that is a hepatitis C protease inhibitor used in combination with elbasvir (under the brand name Zepatier) for treatment of chronic HCV genotypes 1 or 4 infection in adults.


BROMOHYDRIN PYROPHOSPHATE

An alkyl diphosphate having bromohydrin as the alkyl group.


occupational dermatitis

description: Contact dermatitis associated with allergens or irritants found in the workplace.


name: RU17_HUMAN U1 small nuclear ribonucleoprotein 70 kDa (sprot)

description: A U1 small nuclear ribonucleoprotein 70 kDa that is encoded in the genome of human.


name: GABP1_HUMAN GA-binding protein subunit beta-1 (sprot)

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


name: PRD14_HUMAN PR domain zinc finger protein 14 (sprot)

description: A PR domain zinc finger protein 14 that is encoded in the genome of human.


prinomastat

A hydroxamic acid that is (3S)-N-hydroxy-2,2-dimethylthiomorpholine-3-carboxamide in which the hydrogen attached to the thiomorpholine nitrogen has been replaced by a [4-(pyridin-4-yloxy)phenyl]sulfonyl group. It is a selective inhibitor with of matrix metalloproteinases (MMPs) 2, 3, 9, 13, and 14.


name: NDOR1_HUMAN NADPH-dependent diflavin oxidoreductase 1 (sprot)

description: An NADPH-dependent diflavin oxidoreductase 1 that is encoded in the genome of human.


name: MC5R_HUMAN Melanocortin receptor 5 (sprot)

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


name: ESX1_HUMAN Homeobox protein ESX1 (sprot)

description: A homeobox protein ESX1 that is encoded in the genome of human.


name: NRK1_HUMAN Nicotinamide riboside kinase 1 (sprot)

description: A nicotinamide riboside kinase 1 that is encoded in the genome of human.


name: SC5AA_HUMAN Sodium/mannose cotransporter SLC5A10 (sprot)

description: A sodium/mannose cotransporter SLC5A10 that is encoded in the genome of human.


name: MY18B_HUMAN Unconventional myosin-XVIIIb (sprot)

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


ESPN_HUMAN Espin (sprot)

An espin that is encoded in the genome of human.


name: LHX1_HUMAN LIM/homeobox protein Lhx1 (sprot)

description: A LIM/homeobox protein Lhx1 that is encoded in the genome of human.


clear cell sarcoma of kidney

description: A rare pediatric sarcoma affecting the kidney. It is characterized by the presence of epithelioid or spindle cells forming cords or nests, separated by fibrovascular septa. It is associated with internal tandem duplications in the BCOR gene. It metastasizes to lung, bone, brain and soft tissue.


phosphatidylinositol (16:1/18:1)

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


CSTN1_HUMAN Calsyntenin-1 (sprot)

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


SBP1_HUMAN Methanethiol oxidase (sprot)

A methanethiol oxidase that is encoded in the genome of human.


name: PARP4_HUMAN Protein mono-ADP-ribosyltransferase PARP4 (sprot)

description: A protein mono-ADP-ribosyltransferase PARP4 that is encoded in the genome of human.


tamibarotene

A dicarboxylic acid monoamide resulting from the condensation of one of the carboxy groups of terephthalic acid with the amino group of 5,5,8,8-tetramethyl-5,6,7,8-tetrahydronaphthalen-2-amine.


childhood acute myeloid leukemia

description: Acute myeloid leukemia occurring in childhood.


name: NPS3A_HUMAN Protein NipSnap homolog 3A (sprot)

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


name: MAML1_HUMAN Mastermind-like protein 1 (sprot)

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


A monohydroxyacetophenone carrying a hydroxy substituent at position 4'.


name: EPHA8_HUMAN Ephrin type-A receptor 8 (sprot)

description: An ephrin type-A receptor 8 that is encoded in the genome of human.


MIME_HUMAN Mimecan (sprot)

A mimecan that is encoded in the genome of human.


name: ZMYD8_HUMAN MYND-type zinc finger-containing chromatin reader ZMYND8 (sprot)

description: A MYND-type zinc finger-containing chromatin reader ZMYND8 that is encoded in the genome of human.


thiamylal

A member of the class of  barbiturates that is 2-thioxodihydropyrimidine-4,6(1H,5H)-dione substituted by a pentan-2-yl and prop-2-en-1-yl group at position 5.


PLXA1_HUMAN Plexin-A1 (sprot)

A plexin-A1 that is encoded in the genome of human.


Castleman disease

description: Castleman disease (CD) is a benign lymphoproliferative disorder that may present as a localized or multicentric form. The clinical manifestations are heterogeneous, ranging from asymptomatic discrete lymphadenopathy to recurrent episodes of diffuse lymphadenopathy with severe systemic symptoms.


fibroma

description: A non-metastasizing neoplasm arising from the fibrous tissue. It is characterized by the presence of spindle-shaped fibroblasts.


name: IF2G_HUMAN Eukaryotic translation initiation factor 2 subunit 3 (sprot)

description: A eukaryotic translation initiation factor 2 subunit 3, X-linked that is encoded in the genome of human.


name: B2L12_HUMAN Bcl-2-like protein 12 (sprot)

description: A Bcl-2-like protein 12 that is encoded in the genome of human.


LCN1_HUMAN Lipocalin-1 (sprot)

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


name: MGT5A_HUMAN Alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase A (sprot)

description: An alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase A that is encoded in the genome of human.


name: ERR2_HUMAN Steroid hormone receptor ERR2 (sprot)

description: A steroid hormone receptor ERR2 that is encoded in the genome of human.


PCD10_HUMAN Protocadherin-10 (sprot)

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


TPCK

The N-tosyl derivative of L-phenylalanyl chloromethyl ketone.


name: KCNB2_HUMAN Potassium voltage-gated channel subfamily B member 2 (sprot)

description: A voltage-gated potassium channel KCNB2 that is encoded in the genome of human.


flavin adenine dinucleotide

A flavin adenine dinucleotide in which the substituent at position 10 of the flavin nucleus is a 5'-adenosyldiphosphoribityl group.


PERFOSFAMIDE

A phosphorodiamide that is the active metabolite of the nitrogen mustard cyclophosphamide. It has potent antineoplastic and immunosuppressive properties.


Kasabach-Merritt syndrome

description: Kasabach-Merritt syndrome (KMS), also known as hemangioma-thrombocytopenia syndrome, is a rare disorder characterized by profound thrombocytopenia, microangiopathic hemolytic anemia, and subsequent consumptive coagulopathy in association with vascular tumors, particularly kaposiform hemangioendothelioma or tufted angioma.


name: AIMP1_HUMAN Aminoacyl tRNA synthase complex-interacting multifunctional protein 1 (sprot)

description: An aminoacyl tRNA synthase complex-interacting multifunctional protein 1 that is encoded in the genome of human.


cyfluthrin

A carboxylic ester obtained by formal condensation between 3-(2,2-dichloroethenyl)-2,2-dimethylcyclopropanecarboxylic acid and (4-fluoro-3-phenoxyphenyl)(hydroxy)acetonitrile.


MT1B_HUMAN Metallothionein-1B (sprot)

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


methylmalonyl-CoA

A member of the class of malonyl-CoAs that is  malonyl-CoA carrying a methyl group on the malony side chain.


name: PHF8_HUMAN Histone lysine demethylase PHF8 (sprot)

description: A histone lysine demethylase PHF8 that is encoded in the genome of human.


name: VATH_HUMAN V-type proton ATPase subunit H (sprot)

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


name: UBE2C_HUMAN Ubiquitin-conjugating enzyme E2 C (sprot)

description: A ubiquitin-conjugating enzyme E2 C that is encoded in the genome of human.


spasmodic dystonia

description: A chronic voice disorder characterized by momentary periods of uncontrolled spasms of the muscles of the larynx.


name: GASP1_HUMAN G-protein coupled receptor-associated sorting protein 1 (sprot)

description: A G-protein coupled receptor-associated sorting protein 1 that is encoded in the genome of human.


kaempferol 3-O-glucuronide

A kaempferol O-glucuronide that is kaempferol with a beta-D-glucosiduronic acid residue attached at the 3-position.


Vertebrobasilar dolichoectasia

description: Elongation, dilatation, and/or tortuosity of the vertebrobasilar segment. The definition of VBD includes: (i) diameter of basilar or vertebral artery over 4.5 mm; or (ii) deviation of any portion more than 10 mm from the shortest expected course; and (iii) length of basilar artery over 29.5 mm or length of intracranial vertebral artery over 23.5 mm.


velpatasvir

A complex organic heteropentacyclic compound that is a hepatitis C virus nonstructural protein 5A inhibitor used in combination with sofosbuvir (under the brand name Epclusa) for treatment of patients with chronic hepatitis C of all six major genotypes.


name: PSMG3_HUMAN Proteasome assembly chaperone 3 (sprot)

description: A proteasome assembly chaperone 3 that is encoded in the genome of human.


name: UBS3B_HUMAN Ubiquitin-associated and SH3 domain-containing protein B (sprot)

description: A ubiquitin-associated and SH3 domain-containing protein B that is encoded in the genome of human.


palmoplantar keratosis

description: A group of autosomal dominant, autosomal recessive, X-linked inherited or acquired disorders characterized by the thickening of the palms and soles due to hyperkeratosis.


name: UBF1_HUMAN Nucleolar transcription factor 1 (sprot)

description: A nucleolar transcription factor 1 that is encoded in the genome of human.


name: CDX4_HUMAN Homeobox protein CDX-4 (sprot)

description: A homeobox protein CDX-4 that is encoded in the genome of human.


breast tumor luminal A or B

description: Subsets of breast carcinoma defined by expression of genes characteristic of luminal epithelial cells.


cerebellar neoplasm

description: A benign or malignant (primary or metastatic) tumor involving the cerebellum. -- 2003


posterior uveitis

description: Inflammation of the choroid as well as the retina and vitreous body. Some form of visual disturbance is usually present. The most important characteristics of posterior uveitis are vitreous opacities, choroiditis, and chorioretinitis.


grade III glioma

description: A group of malignant gliomas that includes anaplastic astrocytoma, anaplastic oligodendroglioma, anaplastic oligoastrocytoma, and anaplastic ependymoma.


Foot osteomyelitis

description: An infection of bone of the foot.


retroperitoneal sarcoma

description: A sarcoma involving a retroperitoneal space.


name: squamous cell carcinoma of the oral tongue


name: PRAME_HUMAN Melanoma antigen preferentially expressed in tumors (sprot)

description: A melanoma antigen preferentially expressed in tumors that is encoded in the genome of human.


cleft lip/palate

description: Cleft lip and palate is a fissure type embryopathy extending across the upper lip, nasal base, alveolar ridge and the hard and soft palate.


name: I10R2_HUMAN Interleukin-10 receptor subunit beta (sprot)

description: An interleukin-10 receptor subunit beta that is encoded in the genome of human.


name: CDHR2_HUMAN Cadherin-related family member 2 (sprot)

description: A cadherin-related family member 2 that is encoded in the genome of human.


name: GAPR1_HUMAN Golgi-associated plant pathogenesis-related protein 1 (sprot)

description: A Golgi-associated plant pathogenesis-related protein 1 that is encoded in the genome of human.


name: LKHA4_HUMAN Leukotriene A-4 hydrolase (sprot)

description: A leukotriene A-4 hydrolase that is encoded in the genome of human.


name: MYT1L_HUMAN Myelin transcription factor 1-like protein (sprot)

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


name: NCBP1_HUMAN Nuclear cap-binding protein subunit 1 (sprot)

description: A nuclear cap-binding protein subunit 1 that is encoded in the genome of human.


name: SRRT_HUMAN Serrate RNA effector molecule homolog (sprot)

description: A serrate RNA effector molecule that is encoded in the genome of human.


name: DRC4_HUMAN Dynein regulatory complex subunit 4 (sprot)

description: A dynein regulatory complex subunit 4 that is encoded in the genome of human.


name: NFIX_HUMAN Nuclear factor 1 X-type (sprot)

description: A nuclear factor 1 X-type that is encoded in the genome of human.


name: MICU3_HUMAN Calcium uptake protein 3, mitochondrial (sprot)

description: A calcium uptake protein 3, mitochondrial that is encoded in the genome of human.


name: LAMB3_HUMAN Laminin subunit beta-3 (sprot)

description: A laminin subunit beta-3 that is encoded in the genome of human.


name: HSPB6_HUMAN Heat shock protein beta-6 (sprot)

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


name: DCTP1_HUMAN dCTP pyrophosphatase 1 (sprot)

description: A dCTP pyrophosphatase 1 that is encoded in the genome of human.


name: RS29_HUMAN Small ribosomal subunit protein uS14 (sprot)

description: A eukaryotic-type small ribosomal subunit protein uS14 that is encoded in the genome of human.


SEM6B_HUMAN Semaphorin-6B (sprot)

A semaphorin-6B that is encoded in the genome of human.


name: PAIP2_HUMAN Polyadenylate-binding protein-interacting protein 2 (sprot)

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


xeroderma pigmentosum group C

description: An autosomal recessive inherited disorder caused by mutations in the XPC gene. This disease is characterized by increased sensitivity to sunlight with the development of carcinomas at an early age and is caused by a defect in nucleotide excision repair.


name: SL9A4_HUMAN Sodium/hydrogen exchanger 4 (sprot)

description: A sodium/hydrogen exchanger 4 that is encoded in the genome of human.


ITA4_HUMAN Integrin alpha-4 (sprot)

An integrin alpha-4 that is encoded in the genome of human.


name: RA51D_HUMAN DNA repair protein RAD51 homolog 4 (sprot)

description: A DNA repair protein RAD51 homolog 4 that is encoded in the genome of human.


name: CLIP1_HUMAN CAP-Gly domain-containing linker protein 1 (sprot)

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


nitrazepam

A 1,4-benzodiazepinone that is 1,3-dihydro-2H-1,4-benzodiazepin-2-one which is substituted at positions 5 and 7 by phenyl and nitro groups, respectively. It is used as a hypnotic for the short-term management of insomnia and for the treatment of epileptic spasms in infants (West's syndrome).


name: PJA1_HUMAN E3 ubiquitin-protein ligase Praja-1 (sprot)

description: An E3 ubiquitin-protein ligase Praja-1 that is encoded in the genome of human.


name: TSSK6_HUMAN Testis-specific serine/threonine-protein kinase 6 (sprot)

description: A testis-specific serine/threonine-protein kinase 6 that is encoded in the genome of human.


name: BKRB1_HUMAN B1 bradykinin receptor (sprot)

description: A B1 bradykinin receptor that is encoded in the genome of human.


name: ZBT20_HUMAN Zinc finger and BTB domain-containing protein 20 (sprot)

description: A zinc finger and BTB domain-containing protein 20 that is encoded in the genome of human.


fetal alcohol spectrum disorder

description: A group of disorders caused by a prenatal exposure to maternal consumption of alcohol leading to a range of behavioral, cognitive and neurological deficits in the offspring. It is characterized by physical growth problems, distinct facies, and varying psycho-neurological issues.


OCTANEDIOATE

An alpha,omega-dicarboxylic acid that is the 1,6-dicarboxy derivative of hexane.


BETHANECHOL CHLORIDE

The chloride salt of bethanechol. A slowly hydrolysed muscarinic agonist with no nicotinic effects, it is used to increase smooth muscle tone, as in the gastrointestinal tract following abdominal surgery, treatment of gastro-oesophageal reflux disease, and as an alternative to catheterisation in the treatment of non-obstructive urinary retention.


name: ADCY8_HUMAN Adenylate cyclase type 8 (sprot)

description: An adenylate cyclase type 8 that is encoded in the genome of human.


name: PRRT2_HUMAN Proline-rich transmembrane protein 2 (sprot)

description: A proline-rich transmembrane protein 2 that is encoded in the genome of human.


name: ODO1_HUMAN 2-oxoglutarate dehydrogenase complex component E1 (sprot)

description: A 2-oxoglutarate dehydrogenase complex component E1 that is encoded in the genome of human.


name: ODO2_HUMAN Dihydrolipoyllysine-residue succinyltransferase component of 2-oxoglutarate dehydrogenase complex, mitochondrial (sprot)

description: A dihydrolipoyllysine-residue succinyltransferase component of 2-oxoglutarate dehydrogenase complex, mitochondrial that is encoded in the genome of human.


giant cell myocarditis

description: An often fatal inflammatory disorder that affects the myocardium. Morphologically, it is characterized by the presence of an inflammatory infiltrate in the myocardial tissue that includes multinucleated giant cells. It is often associated with the presence of an autoimmune disorder. Patients present with arrhythmias and/or heart failure. Heart transplantation is the only treatment option available.


porphyria cutanea tarda

description: The most common form of chronic hepatic porphyria. It is characterized by bullous photodermatitis.


childhood brain stem neoplasm

description: A neoplasm that affects the brain stem and occurs during childhood.


candidiasis

description: Infection with the organism Candida.


name: DEDD2_HUMAN DNA-binding death effector domain-containing protein 2 (sprot)

description: A DNA-binding death effector domain-containing protein 2 that is encoded in the genome of human.


Abnormality of visual evoked potentials

description: An anomaly of visually evoked potentials (VEP), which are electrical potentials, initiated by brief visual stimuli, which are recorded from the scalp overlying the visual cortex.


name: NU107_HUMAN Nuclear pore complex protein Nup107 (sprot)

description: A nuclear pore complex protein Nup107 that is encoded in the genome of human.


name: SEN2_HUMAN tRNA-splicing endonuclease subunit Sen2 (sprot)

description: A tRNA-splicing endonuclease subunit Sen2 that is encoded in the genome of human.


vulva cancer

description: A primary or metastatic malignant neoplasm involving the vulva.


name: GPR88_HUMAN G protein-coupled receptor 88 (sprot)

description: A G protein-coupled receptor 88 that is encoded in the genome of human.


Reduced von Willebrand factor activity

description: Decreased activity of von Willebrand factor. Von Willebrand factor mediates the adhesion of platelets to the collagen exposed on endothelial cell surfaces.


Whipple disease

description: A systemic infection caused by the Gram-positive bacterium Tropheryma whipplei. It affects the small intestine resulting in malabsorption. Other sites or systems affected by the infection are the joints, central nervous system, and the cardiovascular system.


name: IHO1_HUMAN Interactor of HORMAD1 protein 1 (sprot)

description: An interactor of HORMAD1 protein 1 that is encoded in the genome of human.


name: GBB1_HUMAN Guanine nucleotide-binding protein G(I)/G(S)/G(T) subunit beta-1 (sprot)

description: A guanine nucleotide-binding protein G(I)/G(S)/G(T) subunit beta-1 that is encoded in the genome of human.


radiation proctitis

description: Radiation proctitis is a rare rectal disease directly induced by pelvic radiotherapy and characterized by rectal bleeding, change in bowel habits, tenesmus and sepsis.


name: chronic inflammatory demyelinating polyradiculoneuropathy

description: A rare neurological disorder in which there is inflammation of nerve roots and peripheral nerves and destruction of the fatty protective covering (myelin sheath) over the nerves. This affects how fast the nerve signals are transmitted and leads to loss of nerve fibers. This causes weakness, paralysis and/or impairment in motor function, especially of the arms and legs (limbs). Sensory disturbance may also be present. The motor and sensory impairments usually affect both sides of the body (symmetrical), and the degree of severity and the course of disease may vary from case to case. Some affected individuals may follow a slow steady pattern of symptoms while others may have symptoms that stabilize and then relapse.


listeriosis

description: A bacterial infection caused by Listeria monocytogenes. It occurs in newborns, elderly, and immunocompromised patients. The bacteria are transmitted through ingestion of contaminated food. Clinical manifestations include fever, muscle pain, respiratory distress, nausea, diarrhea, neck stiffness, irritability, seizures, and lethargy.


name: HLF_HUMAN Hepatic leukemia factor (sprot)

description: A hepatic leukemia factor that is encoded in the genome of human.


SNX9_HUMAN Sorting nexin-9 (sprot)

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


name: PHF10_HUMAN PHD finger protein 10 (sprot)

description: A PHD finger protein 10 that is encoded in the genome of human.


SPDYA_HUMAN Speedy protein A (sprot)

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


sialic acid

An N-acetylneuraminic acid that is keto-neuraminic acid in which one of the hydrogens of the amino group is replaced by an acetyl group.


name: NEK8_HUMAN Serine/threonine-protein kinase Nek8 (sprot)

description: A serine/threonine-protein kinase Nek8 that is encoded in the genome of human.


name: ANKS6_HUMAN Ankyrin repeat and SAM domain-containing protein 6 (sprot)

description: An ankyrin repeat and SAM domain-containing protein 6 that is encoded in the genome of human.


name: QSOX2_HUMAN Sulfhydryl oxidase 2 (sprot)

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


idiopathic copper-associated cirrhosis

description: Idiopathic copper-associated cirrhosis is a rare copper-overload liver disease characterized by a rapidly progressive liver cirrhosis from the first few years of life leading to hepatic insufficiency and harboring a specific pathological aspect: pericellular fibrosis, inflammatory infiltration, hepatocyte necrosis, absence of steatosis, poor regeneration and histochemical copper staining.


osteitis fibrosa

description: A disorder that is characterized by bone cysts and fractures, resulting from hyperparathyroidism.


TRY3_HUMAN Trypsin-3 (sprot)

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


name: CKLF8_HUMAN CKLF-like MARVEL transmembrane domain-containing protein 8 (sprot)

description: A CKLF-like MARVEL transmembrane domain-containing protein 8 that is encoded in the genome of human.


name: neoplasm with perivascular epithelioid cell differentiation

description: A soft tissue neoplasm composed of perivascular epithelioid cells. Representative examples include angiomyolipoma, clear cell-sugar-tumor of the lung, and lymphangioleiomyomatosis.


Kikuchi-Fujimoto disease

description: Kikuchi-Fujimoto disease (KFD) is a benign and self-limited disorder, characterized by regional cervical lymphadenopathy with tenderness, usually accompanied with mild fever and night sweats. Less frequent symptoms include weight loss, nausea, vomiting, sore throat.


GON2_HUMAN Progonadoliberin-2 (sprot)

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


name: HXC11_HUMAN Homeobox protein Hox-C11 (sprot)

description: A homeobox protein Hox-C11 that is encoded in the genome of human.


name: PIHD1_HUMAN PIH1 domain-containing protein 1 (sprot)

description: A PIH1 domain-containing protein 1 that is encoded in the genome of human.


name: RPAP3_HUMAN RNA polymerase II-associated protein 3 (sprot)

description: An RNA polymerase II-associated protein 3 that is encoded in the genome of human.


primary bone lymphoma

description: A rare non-Hodgkin lymphoma or even more rarely, a Hodgkin lymphoma that arises from the bone, without lymph node or other extranodal involvement. The femur, spine, and pelvic bones are the most commonly affected sites. The majority of patients present with bone pain in the affected area. A single bone or multiple skeletal sites may be involved. The prognosis is related to the cell type and the stage of the disease.


schizotypal personality disorder

description: A disorder characterized by an enduring pattern of inability to establish close relationships coupled with cognitive or perceptual distortions, odd beliefs and speech, and eccentric behavior and appearance.


name: NDKM_HUMAN Nucleoside diphosphate kinase, mitochondrial (sprot)

description: A nucleoside diphosphate kinase, mitochondrial that is encoded in the genome of human.


plantar fasciitis

description: Inflammation of the thick tissue on the bottom of the foot (plantar fascia) causing heel pain. The plantar fascia (also called plantar aponeurosis) are bands of fibrous tissue extending from the calcaneal tuberosity to the toes. The etiology of plantar fasciitis remains controversial but is likely to involve a biomechanical imbalance. Though often presenting along with heel spur, they do not appear to be causally related.


name: SORC1_HUMAN VPS10 domain-containing receptor SorCS1 (sprot)

description: A VPS10 domain-containing receptor SorCS1 that is encoded in the genome of human.


osteoblastic osteosarcoma

description: A conventional osteosarcoma characterized by the predominance of osteoid matrix.


chalcone

A member of the class of chalcones that is acetophenone in which one of the methyl hydrogens has been replaced by a benzylidene group.


deracoxib

A member of the class of pyrazoles that is 1H-pyrazole which is substituted at positions 1, 3, and 5 by 4-sulfamoylphenyl, difluoromethyl and 3-fluoro-4-methoxyphenyl groups, respectively. A selective cyclooxygenase 2 inhibitor, it is used in veterinary medicine for the control of pain and inflammation associated with osteoarthritis in dogs.


central nervous system malformation

description: An abnormality of the nervous system.


name: WASF3_HUMAN Actin-binding protein WASF3 (sprot)

description: An actin-binding protein WASF3 that is encoded in the genome of human.


name: PPIB_HUMAN Peptidyl-prolyl cis-trans isomerase B (sprot)

description: A eukaryotic peptidyl-prolyl cis-trans isomerase B that is encoded in the genome of human.


name: PTPRN_HUMAN Receptor-type tyrosine-protein phosphatase-like N (sprot)

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


name: SEZ6_HUMAN Seizure protein 6 homolog (sprot)

description: A seizure protein 6 that is encoded in the genome of human.


name: KNDC1_HUMAN Kinase non-catalytic C-lobe domain-containing protein 1 (sprot)

description: A kinase non-catalytic C-lobe domain-containing protein 1 that is encoded in the genome of human.


name: SCRB2_HUMAN Lysosome membrane protein 2 (sprot)

description: A lysosome membrane protein 2 that is encoded in the genome of human.


primary aldosteronism

description: An endocrine disorder characterized by excessive production of aldosterone by the adrenal glands. Causes include adrenal gland adenoma and adrenal gland hyperplasia. The overproduction of aldosterone results in sodium and water retention and hypokalemia. Patients present with high blood pressure, muscle weakness, and headache.


SELS_HUMAN Selenoprotein S (sprot)

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


Andersen-Tawil syndrome

description: Andersen's syndrome (AS) is a rare disorder characterized by periodic muscle paralysis, prolongation of the QT interval with a variety of ventricular arrhythmias (leading to predisposition to sudden cardiac death) and characteristic physical features: short stature, scoliosis, low-set ears, hypertelorism, broad nasal root, micrognathia, clinodactyly, brachydactyly and syndactyly.


SESN3_HUMAN Sestrin-3 (sprot)

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


lupus erythematosus tumidus

description: Tumid erythematosus lupus is considered a rare type of chronic cutaneous lupus erythematosus. Cutaneous lupus erythematosus (CLE) can be divided into acute cutaneous lupus, subacute cutaneous lupus, and chronic cutaneous lupus. Tumid erythematosus lupus is characterized by smooth, non-scarring, pink- to violet-colored pimples (papules)on the skin without any other apparent skin changes, such as scarring. Patients with tumid lupus erythematosus usually do not have other symptoms of systemic lupus erythematosus or other types of cutaneous lupus erythematosus. The papules appear on sun-exposed areas of the face, upper back, V area of the neck, trunk, and arms, and more rarely on thighs and legs. They usually affect equally both sides of the body, but may affect only one side. Normally, the papules clear without leaving scars. The treatment is very effective in most cases, and may include sun protection, anti-malarials drugs, local corticosteroids, topical tacrolimus and light therapy.


amprolium

An organic chloride salt having 1-[(4-amino-2-propylpyrimidin-5-yl)methyl]-2-methylpyridin-1-ium as the counterion. Used for prevention of coccidiosis in poultry and cattle.


Flushing

description: Recurrent episodes of redness of the skin together with a sensation of warmth or burning of the affected areas of skin.


rhinitis

description: An inflammation of the mucous membrane lining the nose, usually associated with nasal discharge.


cepharanthine

A bisbenzylisoquinoline alkaloid from tubers of Stephania; stimulates recovery of immunologic function in lymphatic system after administration of antineoplastic agents or x-irradiation.


name: RL35_HUMAN Large ribosomal subunit protein uL29 (sprot)

description: A eukaryotic-type large ribosomal subunit protein uL29 that is encoded in the genome of human.


breast sarcoma

description: A malignant mesenchymal neoplasm that arises from the breast. Representative examples include angiosarcoma, liposarcoma, leiomyosarcoma, rhabdomyosarcoma, and extraskeletal osteosarcoma.


name: CAC1I_HUMAN Voltage-dependent T-type calcium channel subunit alpha-1I (sprot)

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


name: CTR4_HUMAN Cationic amino acid transporter 4 (sprot)

description: A cationic amino acid transporter 4 that is encoded in the genome of human.


name: DNJC4_HUMAN DnaJ homolog subfamily C member 4 (sprot)

description: A DnaJ homolog subfamily C member 4 that is encoded in the genome of human.


amantadine sulfate

An alkylammonium sulfate salt obtained by combining amantadine and sulfuric acid in a 2:1 ratio. Used as an antiviral and antiparkinson drug.


name: NPAS1_HUMAN Neuronal PAS domain-containing protein 1 (sprot)

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


SYCY1_HUMAN Syncytin-1 (sprot)

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


name: CEIP2_HUMAN Inactive cell surface hyaluronidase CEMIP2 (sprot)

description: A cell surface hyaluronidase CEMIP2 that is encoded in the genome of human.


name: DCA13_HUMAN DDB1- and CUL4-associated factor 13 (sprot)

description: A DDB1- and CUL4-associated factor 13 that is encoded in the genome of human.


name: S22AG_HUMAN Solute carrier family 22 member 16 (sprot)

description: A solute carrier family 22 member 16 that is encoded in the genome of human.


atrial septal defect

description: Interauricular communication is a congenital malformation characterized by a communication between the atrial chambers of the heart.


name: LIRA6_HUMAN Leukocyte immunoglobulin-like receptor subfamily A member 6 (sprot)

description: A leukocyte immunoglobulin-like receptor subfamily A member 6 that is encoded in the genome of human.


salpingo-oophoritis

description: Inflammation of the fallopian tubes and ovaries.


name: PO2F3_HUMAN POU domain, class 2, transcription factor 3 (sprot)

description: A POU domain, class 2, transcription factor 3 that is encoded in the genome of human.


name: SRTD2_HUMAN SERTA domain-containing protein 2 (sprot)

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


name: BARX1_HUMAN Homeobox protein BarH-like 1 (sprot)

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


name: GPR21_HUMAN Probable G-protein coupled receptor 21 (sprot)

description: A probable G-protein coupled receptor 21 that is encoded in the genome of human.


An anhydro sugar of D-glucitol.


B cell deficiency

description: A broad classification of disorders where circulating numbers of B lymphocytes are decreased or ineffective. Complement components and the production of antibodies may also be deficient.


name: GBRA1_HUMAN Gamma-aminobutyric acid receptor subunit alpha-1 (sprot)

description: A gamma-aminobutyric acid receptor subunit alpha-1 that is encoded in the genome of human.


dermatomyositis

description: Dermatomyositis (DM) is a type of idiopathic inflammatory myopathy characterized by evocative skin lesions and symmetrical proximal muscle weakness.


bilirubin

A member of the class of  biladienes that is a linear tetrapyrrole with the dipyrrole units being of both exovinyl and endovinyl type. A product of heme degradation, it is produced in the reticuloendothelial system by the reduction of biliverdin and transported to the liver as a complex with serum albumin.


arthropathy

description: Any disorder of the joints.


name: FBX10_HUMAN F-box only protein 10 (sprot)

description: An F-box only protein 10 that is encoded in the genome of human.


IgG4-related retroperitoneal fibrosis

description: Retroperitoneal fibrosis (RPF) is characterized by the development of a fibrotic mass surrounding retroperitoneal structures, such as aorta, vena cava, ureters and psoas muscle.


name: ZBTB1_HUMAN Zinc finger and BTB domain-containing protein 1 (sprot)

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


hidradenocarcinoma

description: A carcinoma with apocrine and less often eccrine differentiation, arising from the sweat glands. It usually presents as a solitary slow growing nodule in the dermis or subcutaneous tissues. It is characterized by a nodular growth pattern and it is often associated with necrotic changes.


Pyridine substituted at C-2 by a sulfanyl group.


name: FXYD3_HUMAN FXYD domain-containing ion transport regulator 3 (sprot)

description: An FXYD domain-containing ion transport regulator 3 that is encoded in the genome of human.


Pancreatic cysts

description: A cyst of the pancreas that possess a lining of mucous epithelium.


name: MYCBP_HUMAN c-Myc-binding protein (sprot)

description: A c-Myc-binding protein that is encoded in the genome of human.


P-XYLENE

A xylene with methyl groups at positions 1 and 4.


TSN7_HUMAN Tetraspanin-7 (sprot)

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


name: CP2R1_HUMAN Vitamin D 25-hydroxylase (sprot)

description: A vitamin D 25-hydroxylase that is encoded in the genome of human.


name: CSF3R_HUMAN Granulocyte colony-stimulating factor receptor (sprot)

description: A granulocyte colony-stimulating factor receptor that is encoded in the genome of human.


name: WDR5_HUMAN WD repeat-containing protein 5 (sprot)

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


UTS2B_HUMAN Urotensin-2B (sprot)

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


RBSK_HUMAN Ribokinase (sprot)

A ribokinase that is encoded in the genome of human.


Abnormal T-wave

description: An abnormality of the T wave on the electrocardiogram, which mainly represents the repolarization of the ventricles.


name: UNG_HUMAN Uracil-DNA glycosylase (sprot)

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


name: DHX37_HUMAN Probable ATP-dependent RNA helicase DHX37 (sprot)

description: A probable ATP-dependent RNA helicase DHX37 that is encoded in the genome of human.


PXDN_HUMAN Peroxidasin homolog (sprot)

A peroxidasin that is encoded in the genome of human.


name: LYST_HUMAN Lysosomal-trafficking regulator (sprot)

description: A lysosomal-trafficking regulator that is encoded in the genome of human.


name: BORG4_HUMAN Cdc42 effector protein 4 (sprot)

description: A Cdc42 effector protein 4 that is encoded in the genome of human.


MOV10_HUMAN Helicase MOV-10 (sprot)

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


Moderate myopia

description: A moderate form of myopia with refractive error of between -3.00 and -6.00 diopters.


A fenchone that has (1R,4S)-stereochemistry. It is a constituent of the essential oils obtained from fennel.


name: CRLF2_HUMAN Cytokine receptor-like factor 2 (sprot)

description: A cytokine receptor-like factor 2 that is encoded in the genome of human.


name: STK3_HUMAN Serine/threonine-protein kinase 3 (sprot)

description: A serine/threonine-protein kinase 3 that is encoded in the genome of human.


CAV2_HUMAN Caveolin-2 (sprot)

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


name: KDM4B_HUMAN Lysine-specific demethylase 4B (sprot)

description: A lysine-specific demethylase 4B that is encoded in the genome of human.


acne

description: An inflammatory process of the sebaceous glands which is characterized by comedones, nodules, papules and/or pustules on the skin.


citrin deficiency

description: Citrin deficiency is a rare autosomal recessive urea cycle defect characterized clinically by recurring episodes of hyperammonemia and associated neuropsychiatric symptoms in the adult-onset form (citrullinemia type II), and by transient cholestasis and variable hepatic dysfunction in the neonatal form (neonatal intrahepatic cholestasis due to citrin deficiency).


fungal keratitis

description: Keratitis caused by fungi.


name: NCKX4_HUMAN Sodium/potassium/calcium exchanger 4 (sprot)

description: A sodium/potassium/calcium exchanger 4 that is encoded in the genome of human.


name: OTX1_HUMAN Homeobox protein OTX1 (sprot)

description: A homeobox protein OTX1 that is encoded in the genome of human.


leishmaniasis

description: Infectious disease that is transmitted through the bite of hematophagous female phlebotomine sand flies. The clinical spectrum ranges from asymptomatic to clinically overt disease which can remain localized to the skin or disseminate to the upper oral and respiratory mucous membranes or throughout the reticulo-endothelial system. Three main clinical syndromes have been described: visceral (or Kala-Azar; with fever, weight loss, hepatosplenomegaly), cutaneous, and mucocutaneous leishmaniasis (cutaneous or mucocutaneous ulceration).


CP2S1_HUMAN Cytochrome P450 2S1 (sprot)

A cytochrome P450 2S1 that is encoded in the genome of human.


name: WASH1_HUMAN WASH complex subunit 1 (sprot)

description: A WASH complex subunit 1 that is encoded in the genome of human.


description: A form of acromelic dysplasia characterized by the distinctive radiological sign of angel-shaped middle phalanges, a typical metacarpophalangeal pattern profile (mainly affecting first metacarpals and middle phalanges of second, third and fifth digits, which all appear short), epiphyseal changes in the hips and, in some, abnormal dentition and delayed bone age.


levoketoconazole

A cis-1-acetyl-4-(4-{[2-(2,4-dichlorophenyl)-2-(1H-imidazol-1-ylmethyl)-1,3-dioxolan-4-yl]methoxy}phenyl)piperazine which dioxolane moiety has (2S,4R)-configuration.


name: C11B1_HUMAN Cytochrome P450 11B1, mitochondrial (sprot)

description: A cytochrome P450 11B that is a translation product of the CYP11B1 gene in human.


specific learning disability

description: Diagnosed when there are specific deficits in an individualbs ability to perceive or process information efficiently and accurately. This disorder first manifests during the years of formal schooling and is characterized by persistent and impairing difficulties with learning foundational academic skills in reading, writing, and/or math. The individualbs performance of the affected academic skills is well below average for age, or acceptable performance levels are achieved only with extraordinary effort. Specific learning disorder may occur in individuals identified as intellectually gifted and manifest only when the learning demands or assessment procedures (e.g., timed tests) pose barriers that cannot be overcome by their innate intelligence and compensatory strategies. For all individuals, specific learning disorder can produce lifelong impairments in activities dependent on the skills, including occupational performance. (from dsm-V)


description: A rare glomerular disease characterized by a pattern of glomerular injury on kidney biopsy with characteristic light microscopic changes: mesangial hypercellularity, endocapillary proliferation, and thickening of the glomerular basement membrane (GBM). On the basis of immunofluorescence (IF) the disorder is divided into C3 glomerulopathy (C3G) or immunoglobulin-mediated membranoproliferative glomerulonephritis. Through electron microscopy C3G is further divided into Dense deposit disease, with highly electrondense deposits in the glomerular basement membrane, and C3 glomerulonephritis, with mesangial, intramembranous, subendothelial and subepithelial deposits. Secondary causes (autoimmune, infectious, malignancies) are excluded.


ameloblastoma

description: The most common odontogenic tumor, arising from the epithelial component of the embryonic tooth and usually affecting the molar-ramus region of the mandible or maxilla. Although most ameloblastomas are morphologically and clinically benign, they may cause extensive local destruction, recur, or metastasize.


bedaquiline

A quinoline-based antimycobacterial drug used (as its fumarate salt) for the treatment of pulmonary multi-drug resistant tuberculosis by inhibition of ATP synthase, an enzyme essential for the replication of the mycobacteria.


name: supratentorial primitive neuroectodermal tumor

description: A central nervous system embryonal tumor, not otherwise specified arising from the supratentorial region.


xeroderma pigmentosum group F

description: Any xeroderma pigmentosum in which the cause of the disease is a mutation in the ERCC4 gene.


description: An instance of hemophagocytic lymphohistiocytosis that is caused by an inherited genomic modification in an individual.


name: CLC4A_HUMAN C-type lectin domain family 4 member A (sprot)

description: A C-type lectin domain family 4 member A that is encoded in the genome of human.


osteomalacia

description: A metabolic bone disease that results from either a deficiency in vitamin D, or an abnormality in the metabolism of vitamin D, or a deficiency of calcium in the diet. The most common symptoms are bone pain and muscle weakness. When it occurs in children it is commonly referred to as rickets. (Diagnostic Surgical Pathology, 3rd ed.) --2003


name: PLAL1_HUMAN Zinc finger protein PLAGL1 (sprot)

description: A zinc finger protein PLAGL1 that is encoded in the genome of human.


name: SP17_HUMAN Sperm surface protein Sp17 (sprot)

description: A sperm surface protein Sp17 that is encoded in the genome of human.


name: RHOC_HUMAN Rho-related GTP-binding protein RhoC (sprot)

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


mitochondrial complex I deficiency

description: A type of mitochondrial disease charcterized by macrocephaly (large head) with progressive leukodystrophy, encephalopathy, hypertrophic cardiomyopathy, myopathy, liver disease, Leigh syndrome, Leber hereditary optic neuropathy, and some forms of Parkinson disease. The disease is caused by mutations in any of many genes and the inheritance pattern depends on the responsible gene.


name: PURA1_HUMAN Adenylosuccinate synthetase isozyme 1 (sprot)

description: An adenylosuccinate synthetase isozyme 1 that is encoded in the genome of human.


tetracosactide

A synthetic peptide that is identical to the 24-amino acid segment at the N-terminal of adrenocorticotropic hormone (corticotropin). A segment similar in all species, it contains the biological activity that stimulates production of corticosteroids in the adrenal cortex. It is used diagnostically to investigate adrenocortical insufficiency.


name: autoimmune primary adrenal insufficiency

description: Diminished production of adrenocortical hormones due to autoimmune destruction of the adrenal glands.


trichothecene

Any one of a large family of chemically related mycotoxins with a structure based on a sesquiterpene skeleton. The most important structural features causing the biological activities of trichothecenes are a 12,13-epoxy ring, the presence of hydroxy or acetyl groups at appropriate positions on the trichothecene nucleus and the structure and position of the side-chain.


third-degree atrioventricular block

description: A disorder characterized by an electrocardiographic finding of complete failure of atrial electrical impulse conduction to the ventricles. This is manifested on the ECG by disassociation of atrial and ventricular rhythms. The atrial rate must be faster than the ventricular rate. (CDISC)


name: RS11_HUMAN Small ribosomal subunit protein uS17 (sprot)

description: A eukaryotic-type small ribosomal subunit protein uS17 that is encoded in the genome of human.


name: UBE2T_HUMAN Ubiquitin-conjugating enzyme E2 T (sprot)

description: A ubiquitin-conjugating enzyme E2 T that is encoded in the genome of human.


hemangioendothelioma

description: A vascular proliferation characterized by the presence of prominent endothelial cells and the formation of vascular channels. Hemangioendotheliomas may display borderline or low grade characteristics.


name: RGL2_HUMAN Ral guanine nucleotide dissociation stimulator-like 2 (sprot)

description: A Ral guanine nucleotide dissociation stimulator-like 2 that is encoded in the genome of human.


Somatic sensory dysfunction

description: An abnormality of the primary sensation that is mediated by peripheral nerves (pain, temperature, touch, vibration, joint position). The word hypoesthesia (or hypesthesia) refers to a reduction in cutaneous sensation to a specific type of testing.


name: LAMP3_HUMAN Lysosome-associated membrane glycoprotein 3 (sprot)

description: A lysosome-associated membrane glycoprotein 3 that is encoded in the genome of human.


name: CDNF_HUMAN Cerebral dopamine neurotrophic factor (sprot)

description: A cerebral dopamine neurotrophic factor that is encoded in the genome of human.


name: MRAP_HUMAN Melanocortin-2 receptor accessory protein (sprot)

description: A melanocortin-2 receptor accessory protein that is encoded in the genome of human.


phosphatidylcholine (18:2/20:5)

A phosphatidylcholine 38:7 in which the fatty acyl groups at positions 1 and 2 are specified as C18:2 and C20:5 respectively.


pineal body neoplasm

description: A neoplasm (disease) that involves the pineal body.


name: KCNH3_HUMAN Potassium voltage-gated channel subfamily H member 3 (sprot)

description: A voltage-gated potassium channel KCNH3 that is encoded in the genome of human.


Tangier disease

description: Tangier disease (TD) is a rare lipoprotein metabolism disorder characterized biochemically by an almost complete absence of plasma high-density lipoproteins (HDL), and clinically by liver, spleen, lymph node and tonsil enlargement along with peripheral neuropathy in children and adolescents, and, occasionally, cardiovascular disease in adults.


name: MARH8_HUMAN E3 ubiquitin-protein ligase MARCHF8 (sprot)

description: An E3 ubiquitin-protein ligase MARCHF8 that is encoded in the genome of human.


name: TBA4A_HUMAN Tubulin alpha-4A chain (sprot)

description: A tubulin alpha-4A chain that is encoded in the genome of human.


ALPHA-TOCOTRIENOL

A tocotrienol that is chroman-6-ol substituted by methyl groups at positions 2, 5, 7 and 8 and a farnesyl chain at position 2. It has been found in palm oil derived from Elaeis guineensis.


name: GRK7_HUMAN Rhodopsin kinase GRK7 (sprot)

description: A rhodopsin kinase GRK7 that is encoded in the genome of human.


pure autonomic failure

description: Pure autonomic failure (PAF) is a neurodegenerative disease that affects the sympathetic branch of the autonomous nervous system and that manifests with orthostatic hypotension.


phosphatidylcholine (18:2/18:2)

A phosphatidylcholine 36:4 in which the fatty acyl groups at positions 1 and 2 are both specified as C18:2.


name: CHERP_HUMAN Calcium homeostasis endoplasmic reticulum protein (sprot)

description: A calcium homeostasis endoplasmic reticulum protein that is encoded in the genome of human.


name: ACHB4_HUMAN Neuronal acetylcholine receptor subunit beta-4 (sprot)

description: A neuronal acetylcholine receptor subunit beta-4 that is encoded in the genome of human.


name: ZBT7B_HUMAN Zinc finger and BTB domain-containing protein 7B (sprot)

description: A zinc finger and BTB domain-containing protein 7B that is encoded in the genome of human.


cerulenin

An epoxydodecadienamide isolated from several species, including Acremonium, Acrocylindrum and Helicoceras. It inhibits the biosynthesis of several lipids by interfering with enzyme function.


SFXN5_HUMAN Sideroflexin-5 (sprot)

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


phosphatidylcholine (P-18:0/18:1)

A phosphatidylcholine P-36:1 in which the 1-alk-1-enyl group contains 18 carbons and no additional double bonds while the 2-acyl group contains 18 carbons and 1 double bond.


RCN2_HUMAN Reticulocalbin-2 (sprot)

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


name: ST1E1_HUMAN Sulfotransferase 1E1 (sprot)

description: A sulfotransferase 1E1 that is encoded in the genome of human.


cellobiose

A glycosylglucose consisting of two glucose units linked via a beta(1->4) bond.


fatty acyl-CoA

An acyl-CoA that results from the formal condensation of the thiol group of coenzyme A with the carboxy group of any fatty acid.


name: KPCT_HUMAN Protein kinase C theta type (sprot)

description: A protein kinase C theta type that is encoded in the genome of human.


name: DOC2B_HUMAN Double C2-like domain-containing protein beta (sprot)

description: A double C2-like domain-containing protein beta that is encoded in the genome of human.


name: DOC2A_HUMAN Double C2-like domain-containing protein alpha (sprot)

description: A double C2-like domain-containing protein alpha that is encoded in the genome of human.


name: CBG_HUMAN Corticosteroid-binding globulin (sprot)

description: A corticosteroid-binding globulin that is encoded in the genome of human.


name: RL8_HUMAN Large ribosomal subunit protein uL2 (sprot)

description: A eukaryotic-type large ribosomal subunit protein uL2 that is encoded in the genome of human.


name: PTPRR_HUMAN Receptor-type tyrosine-protein phosphatase R (sprot)

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


name: AIMP2_HUMAN Aminoacyl tRNA synthase complex-interacting multifunctional protein 2 (sprot)

description: An aminoacyl tRNA synthase complex-interacting multifunctional protein 2 that is encoded in the genome of human.


BENZAMIDE

An aromatic amide that consists of benzene bearing a single carboxamido substituent. The parent of the class of benzamides.


phosphoric acid

A phosphorus oxoacid that consists of one oxo and three hydroxy groups joined covalently to a central phosphorus atom.


name: myelodysplastic syndrome with multilineage dysplasia

description: Refractory cytopenias with multilineage dysplasia (RCMD) is a frequent subtype of myelodysplastic syndrome (MDS) characterized by 1 or more cytopenias in the peripheral blood and dysplasia in 2 or more myeloid lineages.


name: ZN260_HUMAN Zinc finger protein 260 (sprot)

description: A zinc finger protein 260 that is encoded in the genome of human.


name: ML12A_HUMAN Myosin regulatory light chain 12A (sprot)

description: A myosin regulatory light chain MRLC3 that is encoded in the genome of human.


chronic bilirubin encephalopathy

description: A rare neurologic disease characterized by the chronic consequences of bilirubin toxicity in the globus pallidus, sub-thalamic nuclei, and other brain regions, after exposure to high levels of unconjugated bilirubin in the neonatal period. Symptoms begin after the acute phase of bilirubin encephalopathy in the first year of life, evolve slowly over several years, and include mild to severe extrapyramidal disturbances (especially dystonia and athetosis), auditory neuropathy spectrum disorder, and oculomotor and dental abnormalities.


name: USO1_HUMAN General vesicular transport factor p115 (sprot)

description: A general vesicular transport factor p115 that is encoded in the genome of human.


name: SMS1_HUMAN Phosphatidylcholine:ceramide cholinephosphotransferase 1 (sprot)

description: A phosphatidylcholine:ceramide cholinephosphotransferase 1 that is encoded in the genome of human.


paratyphoid fever

description: A condition resembling typhoid fever that is caused by infection by Salmonella enterica serovar Parathyphi.


name: ST1B1_HUMAN Sulfotransferase 1B1 (sprot)

description: A sulfotransferase 1B1 that is encoded in the genome of human.


choriocarcinoma of testis

description: A malignant germ cell tumor arising from the testis. It represents the rarest of the testicular germ cell tumors. Histologically it is characterized by the presence of syncytiotrophoblasts and cytotrophoblasts.


cardiofaciocutaneous syndrome

description: Cardiofaciocutaneous (CFC) syndrome is a RASopathy characterized by craniofacial dysmorphology, congenital heart disease, dermatological abnormalities (most commonly hyperkeratotic skin and sparse, curly hair), growth retardation and intellectual disability.


name: MKKS_HUMAN Molecular chaperone MKKS (sprot)

description: A molecular chaperone MKKS that is encoded in the genome of human.


urinary tract obstruction

description: Blockage of the normal flow of contents of the urinary tract.


name: UBP15_HUMAN Ubiquitin carboxyl-terminal hydrolase 15 (sprot)

description: A ubiquitin carboxyl-terminal hydrolase 15 that is encoded in the genome of human.


name: OTU7B_HUMAN OTU domain-containing protein 7B (sprot)

description: An OTU domain-containing protein 7B that is encoded in the genome of human.


keratosis pilaris

description: A form of dry skin characterized by hair follicles plugged by scale.


Postnatal growth retardation

description: Slow or limited growth after birth.


name: HES4_HUMAN Transcription factor HES-4 (sprot)

description: A transcription factor HES-4 that is encoded in the genome of human.


name: C163B_HUMAN Scavenger receptor cysteine-rich type 1 protein M160 (sprot)

description: A scavenger receptor cysteine-rich type 1 protein M160 that is encoded in the genome of human.


name: CTSR1_HUMAN Cation channel sperm-associated protein 1 (sprot)

description: A cation channel sperm-associated protein 1 that is encoded in the genome of human.


name: TM119_HUMAN Transmembrane protein 119 (sprot)

description: A transmembrane protein 119 that is encoded in the genome of human.


echinococcosis

description: A parasitic infection caused by tapeworm larvae of Echinococcus. It affects livestock and humans. It is characterized by the formation of hydatid cysts mainly in the liver, lungs, spleen, and kidneys. Rupture of the cysts may lead to shock.


name: ENTP4_HUMAN Ectonucleoside triphosphate diphosphohydrolase 4 (sprot)

description: An ectonucleoside triphosphate diphosphohydrolase 4 that is encoded in the genome of human.


name: ASPM_HUMAN Abnormal spindle-like microcephaly-associated protein (sprot)

description: An abnormal spindle-like microcephaly-associated protein that is encoded in the genome of human.


DTNA_HUMAN Dystrobrevin alpha (sprot)

A dystrobrevin alpha that is encoded in the genome of human.


promazine

A phenothiazine deriative in which the phenothiazine tricycle has a 3-(dimethylaminopropyl) group at the N-10 position.