name: ZPR1_HUMAN Zinc finger protein ZPR1 (sprot)

description: A zinc finger protein ZPR1 that is encoded in the genome of human.


CASPE_HUMAN Caspase-14 (sprot)

A caspase-14 that is encoded in the genome of human.


overactive bladder

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

description: Symptom of overactive detrusor muscle of the urinary bladder that contracts with abnormally high frequency and urgency. Overactive bladder is characterized by the frequent feeling of needing to urinate during the day, during the night, or both. urinary incontinence may or may not be present.


liver neuroendocrine carcinoma

description: An extremely rare, aggressive, high-grade and poorly differentiated carcinoma with neuroendocrine differentiation that arises from the liver.


name: RL10_HUMAN Large ribosomal subunit protein uL16 (sprot)

description: A eukaryotic-type large ribosomal subunit protein uL16 that is encoded in the genome of human.


IFN17_HUMAN Interferon alpha-17 (sprot)

An interferon alpha-17 that is encoded in the genome of human.


name: CSRN3_HUMAN Cysteine/serine-rich nuclear protein 3 (sprot)

description: A cysteine/serine-rich nuclear protein 3 that is encoded in the genome of human.


FZD3_HUMAN Frizzled-3 (sprot)

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


name: FFAR4_HUMAN Free fatty acid receptor 4 (sprot)

description: A free fatty acid receptor 4 that is encoded in the genome of human.


name: AGRG6_HUMAN Adhesion G-protein coupled receptor G6 (sprot)

description: An adhesion G-protein coupled receptor G6 that is encoded in the genome of human.


name: TBB4B_HUMAN Tubulin beta-4B chain (sprot)

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


name: PAFA_HUMAN Platelet-activating factor acetylhydrolase (sprot)

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


name: SP3_HUMAN Transcription factor Sp3 (sprot)

description: A transcription factor Sp3 that is encoded in the genome of human.


name: PX11A_HUMAN Peroxisomal membrane protein 11A (sprot)

description: A peroxisomal membrane protein 11A that is encoded in the genome of human.


panniculitis

description: Inflammation of the subcutaneous adipose tissue.


Atrial arrhythmia

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

description: A type of supraventricular tachycardia in which the atria are the principal site of electrophysiologic disturbance.


name: ZEP1_HUMAN Zinc finger protein 40 (sprot)

description: A zinc finger protein 40 that is encoded in the genome of human.


name: STXB6_HUMAN Syntaxin-binding protein 6 (sprot)

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


Coombs-positive hemolytic anemia

description: A type of hemolytic anemia in which the Coombs test is positive.


GLMN_HUMAN Glomulin (sprot)

A glomulin that is encoded in the genome of human.


name: eosinophilic granulomatosis with polyangiitis

description: Eosinophilic granulomatosis with polyangiitis (EGPA), previously known as Churg-Strauss syndrome, is a systemic vasculitis of small-to medium vessels, characterized by asthma, transient pulmonary infiltrates, and hypereosinophilia.


pleural neoplasm

description: A benign or malignant neoplasm that involves the serous membrane that lines the lungs and thoracic cavity. Most pleural neoplasms are metastatic. Diffuse malignant mesothelioma is the most common primary malignant neoplasm of the pleura.


endocervical adenocarcinoma

description: An adenocarcinoma that arises from the endocervix. It is the most common type of endocervical adenocarcinoma. The neoplastic epithelium shows a pseudostratified architecture and the malignant cells have enlarged, elongated, and hyperchromatic nuclei.


name: CLCN7_HUMAN H(+)/Cl(-) exchange transporter 7 (sprot)

description: An H(+)/Cl(-) exchange transporter 7 that is encoded in the genome of human.


breast angiosarcoma

description: A malignant vascular neoplasm arising from the breast.


name: NR1H2_HUMAN Oxysterols receptor LXR-beta (sprot)

description: An oxysterols receptor LXR-beta that is encoded in the genome of human.


name: NMNA3_HUMAN Nicotinamide/nicotinic acid mononucleotide adenylyltransferase 3 (sprot)

description: A nicotinamide/nicotinic acid mononucleotide adenylyltransferase 3 that is encoded in the genome of human.


meglumine

A  hexosamine that is D-glucitol in which the hydroxy group at position 1 is substituted by the nitrogen of a methylamino group. A crystalline base, it is used in preparing salts of certain acids for use as diagnostic radiopaque media, while its antimonate is used as an antiprotozoal in the treatment of leishmaniasis.


cephalexin

A semisynthetic first-generation cephalosporin antibiotic having methyl and beta-(2R)-2-amino-2-phenylacetamido groups at the 3- and 7- of the cephem skeleton, respectively. It is effective against both Gram-negative and Gram-positive organisms, and is used for treatment of infections of the skin, respiratory tract and urinary tract.


flibanserin

An N-alkylpiperazine that is 1-[2-(1,3-dihydro-2-oxobenzimidazol-1-yl)ethyl]piperazine in which the remaining amino proton is replaced by a 3-(trifluoromethyl)phenyl group. A multifunctional serotonin agonist and antagonist which is used for the treatment of pre-menopausal women with hypoactive sexual desire disorder.


name: AT5G2_HUMAN ATP synthase F(0) complex subunit C2, mitochondrial (sprot)

description: An ATP synthase F(0) complex subunit C2, mitochondrial that is encoded in the genome of human.


name: SPPL3_HUMAN Signal peptide peptidase-like 3 (sprot)

description: A signal peptide peptidase-like 3 that is encoded in the genome of human.


post-thrombotic syndrome

description: A condition characterized by a chronically swollen limb, often a leg with stasis dermatitis and ulcerations. This syndrome can appear soon after phlebitis or years later. Postphlebitic syndrome is the result of damaged or incompetent venous valves in the limbs. Distended, tortuous varicose veins are usually present. Leg pain may occur after long period of standing.


Williams syndrome

description: A rare genetic multisystemic neurodevelopmental disorder characterized by a distinct facial appearance, cardiac anomalies (most frequently supravalvular aortic stenosis), cognitive and developmental abnormalities, and connective tissue abnormalities (such as joint laxity)


ADIPL_HUMAN Adipolin (sprot)

An adipolin that is encoded in the genome of human.


zinc acetate

An acetate salt in which the cationic component is zinc(2+).


CLD16_HUMAN Claudin-16 (sprot)

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


RTN2_HUMAN Reticulon-2 (sprot)

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


3-AMINOBENZOIC ACID

An aminobenzoic acid carrying an amino group at position 3.


speech disorder

description: A term referring to disorders characterized by the disruption of normal speech. It includes stuttering, lisps, dysarthria and voice disorders.


adrenal cortex neoplasm

description: A benign or malignant (primary or metastatic) neoplasm affecting the adrenal cortex. (NCI05)


chickenpox

description: A contagious childhood disorder caused by the varicella zoster virus. It is transmitted via respiratory secretions and contact with chickenpox blister contents. It presents with a vesicular skin rash, usually associated with fever, headache, and myalgias. The pruritic fluid-filled vesicles occur 10-21 days after exposure and last for 3-4 days. An additional 3-4 days of malaise follows before the affected individual feels better. An individual is contagious 1-2 days prior to the appearance of the blisters until all blisters are crusted over. Generally, healthy individuals recover without complications.


Sjogren syndrome

description: An autoimmune disorder in which immune cells attack and destroy the glands that produce tears and saliva. Sjögren syndrome is also associated with rheumatic disorders such as rheumatoid arthritis or systemic lupus erythematosus. The hallmark symptoms of Sjögren syndrome are dry mouth and dry eyes. In addition, Sjogren syndrome may cause skin, nose, and vaginal dryness. It also may affect other organs of the body including the kidneys, blood vessels, lungs, liver, pancreas, and brain


name: PAR14_HUMAN Protein mono-ADP-ribosyltransferase PARP14 (sprot)

description: A protein mono-ADP-ribosyltransferase PARP14 that is encoded in the genome of human.


toxic shock syndrome

description: A rare acute life-threatening systemic bacterial noncontagious illness caused by exotoxins from bacteria of either the Streptococcus pyogenes or Staphylococcus aureus type. It is characterized by high fever, hypotension, rash, multi-organ dysfunction, and cutaneous desquamation during the early convalescent period. The toxins affect the host immune system, causing an exuberant and pathological host inflammatory response. Laboratory findings include leukocytosis, elevated prothrombin time, hypoalbuminemia, hypocalcemia, and pyuria.


name: SOSB2_HUMAN SOSS complex subunit B2 (sprot)

description: A SOSS complex subunit B2 that is encoded in the genome of human.


pantethine

An organic disulfide that consists of two molecules of pantothenic acid linked by amide bonds to a cysteamine disulfide bridging group.


S100G_HUMAN Protein S100-G (sprot)

A protein S100-G that is encoded in the genome of human.


name: ACHB3_HUMAN Neuronal acetylcholine receptor subunit beta-3 (sprot)

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


name: DKC1_HUMAN H/ACA ribonucleoprotein complex subunit DKC1 (sprot)

description: An H/ACA ribonucleoprotein complex catalytic subunit that is encoded in the genome of human.


TRIAPINE

Triapine is a synthetic heterocyclic carboxaldehyde thiosemicarbazone with potential antineoplastic activity. Triapine inhibits the enzyme ribonucleotide reductase, resulting in the inhibition of the conversion of ribonucleoside diphosphates to deoxyribonucleotides necessary for DNA synthesis. This agent has been shown to inhibit tumor growth in vitro.


name: PTN18_HUMAN Tyrosine-protein phosphatase non-receptor type 18 (sprot)

description: A tyrosine-protein phosphatase non-receptor type 18 that is encoded in the genome of human.


name: BAAT_HUMAN Bile acid-CoA:amino acid N-acyltransferase (sprot)

description: A bile acid-CoA:amino acid N-acyltransferase that is encoded in the genome of human.


name: FBP1L_HUMAN Formin-binding protein 1-like (sprot)

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


name: PACN1_HUMAN Protein kinase C and casein kinase substrate in neurons protein 1 (sprot)

description: A protein kinase C and casein kinase substrate in neurons protein 1 that is encoded in the genome of human.


isavuconazonium

An organic cation that is the cationic portion of isavuconazonium sulfate (a prodrug for isavuconazole, an antifungal agent used for the treatment of invasive aspergillosis and invasive mucormycosis).


name: GLYC_HUMAN Serine hydroxymethyltransferase, cytosolic (sprot)

description: A serine hydroxymethyltransferase, cytosolic that is encoded in the genome of human.


childhood-onset epilepsy syndrome

description: A epilepsy syndrome that occurs during childhood.


name: ANFC_HUMAN C-type natriuretic peptide (sprot)

description: A C-type natriuretic peptide that is encoded in the genome of human.


name: PPME1_HUMAN Protein phosphatase methylesterase 1 (sprot)

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


name: RAB1A_HUMAN Ras-related protein Rab-1A (sprot)

description: A Ras-related protein Rab-1A that is encoded in the genome of human.


name: isolated thyroid-stimulating hormone deficiency

description: Isolated thyroid-stimulating hormone (TSH) deficiency is a type of central congenital hypothyroidism, a permanent thyroid deficiency that is present from birth, characterized by low levels of thyroid hormones due to a deficiency in TSH synthesis.


palmitoyl-CoA

A long-chain fatty acyl-CoA resulting from the formal condensation of the carboxy group of hexadecanoic acid with the thiol group of coenzyme A.


name: S2551_HUMAN Mitochondrial nicotinamide adenine dinucleotide transporter SLC25A51 (sprot)

description: A mitochondrial nicotinamide adenine dinucleotide transporter SLC25A51 that is encoded in the genome of human.


polidocanol

A hydroxypolyether that is nonaethylene glycol in which one of the terminal hydroxy functions is substituted by a lauryl (dodecyl) group.


name: PCFT_HUMAN Proton-coupled folate transporter (sprot)

description: A proton-coupled folate transporter that is encoded in the genome of human.


name: GGA1_HUMAN ADP-ribosylation factor-binding protein GGA1 (sprot)

description: An ADP-ribosylation factor-binding protein GGA1 that is encoded in the genome of human.


arteritis

description: An inflammatory process affecting an artery.


cannabis dependence

description: Physical and psychological dependence on the drug cannabis.


name: CEAM3_HUMAN Carcinoembryonic antigen-related cell adhesion molecule 3 (sprot)

description: A carcinoembryonic antigen-related cell adhesion molecule 3 that is encoded in the genome of human.


phosgene

An acyl chloride obtained by substitution of both hydrogens of formaldehyde by chlorine.


indoprofen

A monocarboxylic acid that is propionic acid in which one of the hydrogens at position 2 is substituted by a 4-(1-oxo-1,3-dihydroisoindol-2-yl)phenyl group. Initially used as an anti-inflammatory and analgesic, it was withdrawn from the market due to causing severe gastrointestinal bleeding. It has been subsequently found to increase production of the survival motor neuron protein.


name: ATS8_HUMAN A disintegrin and metalloproteinase with thrombospondin motifs 8 (sprot)

description: An a disintegrin and metalloproteinase with thrombospondin motifs 8 that is encoded in the genome of human.


name: MYBA_HUMAN Myb-related protein A (sprot)

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


fenoterol

A member of the class  resorcinols that is 5-(1-hydroxyethyl)benzene-1,3-diol in which one of the methyl hydrogens is replaced by a 1-(4-hydroxyphenyl)propan-2-amino group. A beta2-adrenergic agonist, it is used (as the hydrobromide salt) as a bronchodilator in the management of reversible airway obstruction.


AURKC_HUMAN Aurora kinase C (sprot)

An aurora kinase C that is encoded in the genome of human.


Abdominal pain

description: An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) and perceived to originate in the abdomen.


name: GIMA6_HUMAN GTPase IMAP family member 6 (sprot)

description: A GTPase IMAP family member 6 that is encoded in the genome of human.


name: VASH2_HUMAN Tubulinyl-Tyr carboxypeptidase 2 (sprot)

description: A tubulinyl-Tyr carboxypeptidase 2 that is encoded in the genome of human.


name: RBM20_HUMAN RNA-binding protein 20 (sprot)

description: An RNA-binding protein 20 that is encoded in the genome of human.


name: TRXR3_HUMAN Thioredoxin reductase 3 (sprot)

description: A thioredoxin reductase 3 that is encoded in the genome of human.


dyclonine

N-Ethylpiperidine in which one of the hydrogens attached to the methyl group is substituted by a 4-butoxybenzoyl group.


primary amebic meningoencephalitis

description: A infectious disease involving the Naegleria fowleri.


carbocisteine

An L-cysteine thioether that is L-cysteine in which the hydrogen of the thiol group has been replaced by a carboxymethyl group.


name: TLE2_HUMAN Transducin-like enhancer protein 2 (sprot)

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


name: SOCS4_HUMAN Suppressor of cytokine signaling 4 (sprot)

description: A suppressor of cytokine signaling 4 that is encoded in the genome of human.


nontoxic goiter

description: Sporadic enlargement of the thyroid gland that is not associated with changes in thyroid function or malignancy.


name: RFA2_HUMAN Replication protein A 32 kDa subunit (sprot)

description: A replication protein A 32 kDa subunit that is encoded in the genome of human.


name: MAPK5_HUMAN MAP kinase-activated protein kinase 5 (sprot)

description: A MAP kinase-activated protein kinase 5 that is encoded in the genome of human.


name: RFX6_HUMAN DNA-binding protein RFX6 (sprot)

description: A DNA-binding protein RFX6 that is encoded in the genome of human.


cytomegalovirus infection

description: A herpesvirus infection caused by Cytomegalovirus. Healthy individuals generally do not produce symptoms. However, the infection may be life-threatening in affected immunocompromised patients. The virus may cause retinitis, esophagitis, gastritis, and colitis. Morphologically, it is characterized by the presence of intranuclear inclusion bodies.


Wernicke encephalopathy

description: An acute neurological disorder characterized by the triad of ophthalmoplegia, ataxia, and disturbances of mental activity or consciousness. Eye movement abnormalities include nystagmus, external rectus palsies, and reduced conjugate gaze. thiamine deficiency and chronic alcoholism are associated conditions. Pathologic features include periventricular petechial hemorrhages and neuropil breakdown in the diencephalon and brainstem. Chronic thiamine deficiency may lead to korsakoff syndrome. (Adams et al., Principles of Neurology, 6th ed, pp1139-42; Davis & Robertson, Textbook of Neuropathology, 2nd ed, pp452-3)


lipid hydroperoxide

Any lipid carrying one or more hydroperoxy substituents.


A thiopurine that is inosine in which the aromatic hydroxy group is replaced by a methylsulfanediyl group.


XPO6_HUMAN Exportin-6 (sprot)

An exportin-6 that is encoded in the genome of human.


cerebral cortical dysplasia

description: Abnormalities in the development of the cerebral cortex. These include malformations arising from abnormal neuronal and glial cell proliferation or apoptosis (Group I); abnormal neuronal migration (Group ii); and abnormal establishment of cortical organization (Group iii). Many inborn metabolic brain disorders affecting cns formation are often associated with cortical malformations. They are common causes of epilepsy and developmental delay.


Cronkhite-Canada syndrome

description: Cronkhite-Canada syndrome (CCS) is a rare gastrointestinal (GI) polyposis syndrome characterized by the association of non-hereditary GI polyposis with the cutaneous triad of alopecia, nail changes and hyperpigmentation.


name: SYCE1_HUMAN Synaptonemal complex central element protein 1 (sprot)

description: A synaptonemal complex central element protein 1 that is encoded in the genome of human.


name: ADH1A_HUMAN Alcohol dehydrogenase 1A (sprot)

description: An alcohol dehydrogenase 1A that is encoded in the genome of human.


name: DEF1_HUMAN Neutrophil defensin 1 (sprot)

description: A protein that is a translation product of any of the following genes in human: DEFA1/DEFA1B.


RCAN2_HUMAN Calcipressin-2 (sprot)

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


name: KLK3_HUMAN Prostate-specific antigen (sprot)

description: A prostate-specific antigen that is encoded in the genome of human.


name: MCHR1_HUMAN Melanin-concentrating hormone receptor 1 (sprot)

description: A melanin-concentrating hormone receptor 1 that is encoded in the genome of human.


nodular goiter

description: Goiter characterized by discrete tissue mass(es) that may or may not produce thyroid hormones.


name: CLIC5_HUMAN Chloride intracellular channel protein 5 (sprot)

description: A chloride intracellular channel protein 5 that is encoded in the genome of human.


distigmine

A carbamate ester resulting from the formal condensation of both carboxy groups of hexane-1,6-diylbis(methylcarbamic acid) with the hydroxy group of 3-hydroxy-1-methylpyridinium.


name: FBXW8_HUMAN F-box/WD repeat-containing protein 8 (sprot)

description: An F-box/WD repeat-containing protein 8 that is encoded in the genome of human.


HYAL1_HUMAN Hyaluronidase-1 (sprot)

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


progressive nodular histiocytosis

description: Progressive nodular histiocytosis is a rare, normolipemic, non-Langerhans cell histiocytosis characterized by progressive growth of multiple to disseminated, asymptomatic skin lesions that range in appearance from yellow plaques to coalescence-prone red-brown papules, nodules and pedunculated tumors up to 5 cm in size, located typically on the face, trunk and extremities (and rarely on conjuctiva and mucous membranes). Characteristic microscopic findings include a storiform spindle cell infiltrate in the deep dermis with xanthomatized macrophages and some Touton cells in the upper dermis. It is usually not associated with systemic disease.


HEXANOATE

A C6, straight-chain saturated fatty acid.


name: RAB3I_HUMAN Rab-3A-interacting protein (sprot)

description: A Rab-3A-interacting protein that is encoded in the genome of human.


name: TGFI1_HUMAN Transforming growth factor beta-1-induced transcript 1 protein (sprot)

description: A transforming growth factor beta-1-induced transcript 1 protein that is encoded in the genome of human.


name: PSA2_HUMAN Proteasome subunit alpha type-2 (sprot)

description: A proteasome subunit alpha type-2 that is encoded in the genome of human.


Hypochloremia

description: An abnormally decreased chloride concentration in the blood.


ceftizoxime

A parenteral third-generation cephalosporin, bearing a 2-(2-amino-1,3-thiazol-4-yl)-2-(methoxyimino)acetyl]amino group at the 7beta-position.


name: SEBP2_HUMAN Selenocysteine insertion sequence-binding protein 2 (sprot)

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


(-)-sulpiride

An optically active form of sulpiride having (S)-configuration. The active enantiomer of the racemic drug sulpiride. Selective D2-like dopamine antagonist (Ki values are ~ 0.015. ~ 0.013, 1, ~ 45 and ~ 77 muM at D2, D3, D4, D1 and D5 receptors respectively).


name: TRAD1_HUMAN TRAF-type zinc finger domain-containing protein 1 (sprot)

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


name: S2512_HUMAN Electrogenic aspartate/glutamate antiporter SLC25A12, mitochondrial (sprot)

description: An electrogenic aspartate/glutamate antiporter SLC25A12, mitochondrial that is encoded in the genome of human.


NXPH4_HUMAN Neurexophilin-4 (sprot)

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


name: CRNS1_HUMAN Carnosine synthase 1 (sprot)

description: A carnosine synthase 1 that is encoded in the genome of human.


ARRC_HUMAN Arrestin-C (sprot)

An arrestin-C that is encoded in the genome of human.


name: TAOK1_HUMAN Serine/threonine-protein kinase TAO1 (sprot)

description: A serine/threonine-protein kinase TAO1 that is encoded in the genome of human.


cervicitis

description: An acute or chronic inflammatory process that affects the cervix. Causes include sexually transmitted diseases and bacterial infections. Clinical manifestations include abnormal vaginal bleeding and vaginal discharge.


Episcleritis

description: Inflammation of the episclera, a thin layer of tissue covering the white part (sclera) of the eye.


name: S4A11_HUMAN Solute carrier family 4 member 11 (sprot)

description: A solute carrier family 4 member 11 that is encoded in the genome of human.


limb-girdle muscular dystrophy

description: Limb-girdle muscular dystrophy (LGMD) is a heterogeneous group of muscular dystrophies characterized by proximal weakness affecting the pelvic and shoulder girdles. Cardiac and respiratory impairment may be observed in certain forms of LGMD.


name: AMFR_HUMAN E3 ubiquitin-protein ligase AMFR (sprot)

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


name: TOIP1_HUMAN Torsin-1A-interacting protein 1 (sprot)

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


name: TNKS1_HUMAN Poly [ADP-ribose] polymerase tankyrase-1 (sprot)

description: A poly [ADP-ribose] polymerase tankyrase-1 that is encoded in the genome of human.


primitive portal vein thrombosis

description: Portal vein thrombosis (PVT) is associated with acute (recent) or chronic (long-standing) thrombosis of the portal system.


name: MCM10_HUMAN Protein MCM10 homolog (sprot)

description: A protein MCM10 that is encoded in the genome of human.


NLGN3_HUMAN Neuroligin-3 (sprot)

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


name: ITIH3_HUMAN Inter-alpha-trypsin inhibitor heavy chain H3 (sprot)

description: An inter-alpha-trypsin inhibitor heavy chain H3 that is encoded in the genome of human.


name: G0S2_HUMAN G0/G1 switch protein 2 (sprot)

description: A G0/G1 switch protein 2 that is encoded in the genome of human.


name: CXL17_HUMAN C-X-C motif chemokine 17 (sprot)

description: A C-X-C motif chemokine 17 that is encoded in the genome of human.


Nephrotic range proteinuria

description: Severely increased amount of excretion of protein in the urine, defined as 3.5 grams per day or more in adults and 40 mg per meter-squared body surface area per hour in children.


name: HDGF_HUMAN Hepatoma-derived growth factor (sprot)

description: A hepatoma-derived growth factor that is encoded in the genome of human.


Dyschromatopsia

description: A form of colorblindness in which only two of the three fundamental colors can be distinguished due to a lack of one of the retinal cone pigments.


proflavine

An aminoacridine that is acridine that is substituted by amino groups at positions 3 and 6. A slow-acting bacteriostat that is effective against many Gram-positive bacteria (but ineffective against spores), its salts were formerly used for treatment of burns and infected wounds.


ceftaroline fosamil

A cephalosporin having [4-(1-methylpyridinium-4-yl)-1,3-thiazol-2-yl]sulfanyl and {(2Z)-2-(ethoxyimino)-2-[5-(phosphonoamino)-1,2,4-thiadiazol-3-yl]acetyl}amino side groups located at positions 3 and 7 respectively. The N-phospho prodrug of ceftaroline, a broad-spectrum antibiotic active against methicillin-resistant Staphylococcus aureus (MRSA). It is used for the treatment of adults with acute bacterial skin and skin structure infections.


mediastinitis

description: An inflammatory process affecting the mediastinum.


name: PCF11_HUMAN Pre-mRNA cleavage complex 2 protein Pcf11 (sprot)

description: A pre-mRNA cleavage complex 2 protein Pcf11 that is encoded in the genome of human.


Ovarian torsion

description: Ovarian torsion is a twisting of the ligaments that support the adnexa, cutting off the blood flow to the ovary.


name: HEN2_HUMAN Helix-loop-helix protein 2 (sprot)

description: A helix-loop-helix protein 2 that is encoded in the genome of human.


Perivascular fibrosis

description: The presence of thick collagen bundles around blood vessels, often in an onion-skin type whorling pattern.


name: WASF1_HUMAN Actin-binding protein WASF1 (sprot)

description: An actin-binding protein WASF1 that is encoded in the genome of human.


large cell carcinoma

description: A malignant epithelial neoplasm composed of large, atypical cells.


breast fibrocystic disease

description: Fibrosis associated with cyst formation in the breast parenchyma.


uracil

A common and naturally occurring pyrimidine nucleobase in which the pyrimidine ring is substituted with two oxo groups at positions 2 and 4. Found in RNA, it base pairs with adenine and replaces thymine during DNA transcription.


name: GPC6A_HUMAN G-protein coupled receptor family C group 6 member A (sprot)

description: A G-protein coupled receptor family C group 6 member A that is encoded in the genome of human.


Fatigue

description: A subjective feeling of tiredness characterized by a lack of energy and motivation.


name: TN13B_HUMAN Tumor necrosis factor ligand superfamily member 13B (sprot)

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


name: HBAT_HUMAN Hemoglobin subunit theta-1 (sprot)

description: A hemoglobin subunit theta-1 that is encoded in the genome of human.


name: methicillin-resistant staphylococcus aureus infectious disease

description: Infections caused by a strain of Staphylococcus aureus that is non-susceptible to the action of the antibiotic, methicillin. The mechanism of resistance usually involves modification of normal or the presence of acquired penicillin binding proteins.


name: RNF8_HUMAN E3 ubiquitin-protein ligase RNF8 (sprot)

description: An E3 ubiquitin-protein ligase RNF8 that is encoded in the genome of human.


name: ETV2_HUMAN ETS translocation variant 2 (sprot)

description: An ETS translocation variant 2 that is encoded in the genome of human.


vanoxerine

An N-alkylpiperazine that consists of piperazine bearing 2-bis(4-fluorophenyl)methoxy]ethyl and 3-phenylpropyl groups at positions 1 and 4 respectively. Potent, competitive inhibitor of dopamine uptake (Ki = 1 nM for inhibition of striatal dopamine uptake). Has > 100-fold lower affinity for the noradrenalin and 5-HT uptake carriers. Also a potent sigma ligand (IC50 = 48 nM). Centrally active following systemic administration.


name: SHSA3_HUMAN Protein shisa-3 homolog (sprot)

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


name: SHOX2_HUMAN Short stature homeobox protein 2 (sprot)

description: A short stature homeobox protein 2 that is encoded in the genome of human.


name: FOXS1_HUMAN Forkhead box protein S1 (sprot)

description: A forkhead box protein S1 that is encoded in the genome of human.


name: FARP1_HUMAN FERM, ARHGEF and pleckstrin domain-containing protein 1 (sprot)

description: A FERM, ARHGEF and pleckstrin domain-containing protein 1 that is encoded in the genome of human.


posterior leukoencephalopathy syndrome

description: An acute or subacute reversible condition characterized by headaches, mental status changes, visual disturbances, and seizures associated with imaging findings of posterior leukoencephalopathy. It has been observed in association with hypertensive encephalopathy, eclampsia, and immunosuppressive and cytotoxic drug treatment.


name: ZCC17_HUMAN Zinc finger CCHC domain-containing protein 17 (sprot)

description: A zinc finger CCHC domain-containing protein 17 that is encoded in the genome of human.


FERRUGINOL

An abietane diterpenoid that is abieta-8,11,13-triene substituted by a hydroxy group at positions 12.


RNAS7_HUMAN Ribonuclease 7 (sprot)

A ribonuclease 7 that is encoded in the genome of human.


name: SGSM2_HUMAN Small G protein signaling modulator 2 (sprot)

description: A small G protein signaling modulator 2 that is encoded in the genome of human.


name: AT2A1_HUMAN Sarcoplasmic/endoplasmic reticulum calcium ATPase 1 (sprot)

description: A sarcoplasmic/endoplasmic reticulum calcium ATPase 1 that is encoded in the genome of human.


MOLSIDOMINE

A member of the class of oxadiazoles that is 1,2,3-oxadiazole substituted by morpholin-4-yl and (ethoxycarbonyl)azanidyl groups at positions 3 and 5, respectively. It is used as a vasodilator drug for the treatment of myocardial ischemic syndrome and congestive heart failure.


Abnormality of the genital system

description: An abnormality of the genital system.


UBD_HUMAN Ubiquitin D (sprot)

A ubiquitin D that is encoded in the genome of human.


name: RET1_HUMAN Retinol-binding protein 1 (sprot)

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


name: SNPC1_HUMAN snRNA-activating protein complex subunit 1 (sprot)

description: An snRNA-activating protein complex subunit 1 that is encoded in the genome of human.


exisulind

A sulfone metabolite of sulindac that inhibits cell growth by inducing apoptosis independently of cyclooxygenase inhibition. It inhibits the development and induces regression of premalignant adenomatous polyps.  Lipoxygenase and Cox-2 inhibitor.


name: OX1R_HUMAN Orexin/Hypocretin receptor type 1 (sprot)

description: An orexin/hypocretin receptor type 1 that is encoded in the genome of human.


name: HCD2_HUMAN 3-hydroxyacyl-CoA dehydrogenase type-2 (sprot)

description: A 3-hydroxyacyl-CoA dehydrogenase type-2 that is encoded in the genome of human.


name: RINI_HUMAN Ribonuclease inhibitor (sprot)

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


name: PI42B_HUMAN Phosphatidylinositol 5-phosphate 4-kinase type-2 beta (sprot)

description: A phosphatidylinositol 5-phosphate 4-kinase type-2 beta that is encoded in the genome of human.


name: developmental and epileptic encephalopathy, 25

description: Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the SLC13A5 gene.


CCN3_HUMAN CCN family member 3 (sprot)

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


optic nerve glioma

description: A glioma that affects the optic nerve. This condition can be seen in association with neurofibromatosis 1. It is most commonly seen in the pediatric age group.


name: RAB21_HUMAN Ras-related protein Rab-21 (sprot)

description: A Ras-related protein Rab-21 that is encoded in the genome of human.


name: TOX4_HUMAN TOX high mobility group box family member 4 (sprot)

description: A TOX high mobility group box family member 4 that is encoded in the genome of human.


BSND_HUMAN Barttin (sprot)

A barttin that is encoded in the genome of human.


DEF4_HUMAN Defensin alpha 4 (sprot)

A protein that is a translation product of the DEFA4 gene in human.


name: GTPBA_HUMAN GTP-binding protein 10 (sprot)

description: A GTP-binding protein 10 that is encoded in the genome of human.


name: DGKG_HUMAN Diacylglycerol kinase gamma (sprot)

description: A diacylglycerol kinase gamma that is encoded in the genome of human.


name: PTN22_HUMAN Tyrosine-protein phosphatase non-receptor type 22 (sprot)

description: A tyrosine-protein phosphatase non-receptor type 22 that is encoded in the genome of human.


tic disorder

description: Disorders characterized by recurrent TICS that may interfere with speech and other activities. Tics are sudden, rapid, nonrhythmic, stereotyped motor movements or vocalizations which may be exacerbated by stress and are generally attenuated during absorbing activities. Tic disorders are distinguished from conditions which feature other types of abnormal movements that may accompany another another condition. (From DSM-IV, 1994)


4-NITROBENZOIC ACID

A nitrobenzoic acid having the nitro group at the 4-position.


name: MED1_HUMAN Mediator of RNA polymerase II transcription subunit 1 (sprot)

description: A mediator of RNA polymerase II transcription subunit 1 that is encoded in the genome of human.


name: ITIH4_HUMAN Inter-alpha-trypsin inhibitor heavy chain H4 (sprot)

description: An inter-alpha-trypsin inhibitor heavy chain H4 that is encoded in the genome of human.


renal pelvis squamous cell carcinoma

description: A squamous cell carcinoma that involves the renal pelvis.


name: S39A1_HUMAN Zinc transporter ZIP1 (sprot)

description: A zinc transporter ZIP1 that is encoded in the genome of human.


name: RFOX2_HUMAN RNA binding protein fox-1 homolog 2 (sprot)

description: An RNA binding protein fox-1 homolog 2 that is encoded in the genome of human.


name: GUF1_HUMAN Translation factor GUF1, mitochondrial (sprot)

description: A GTP-binding protein GUF1 that is encoded in the genome of human.


trimethylaminuria

description: A rare inborn error of metabolism characterized by the presence of large amounts of trimethylamine in urine, sweat, and breath, resulting in a fishy body odor in affected individuals.


sulfadimidine

A sulfonamide consisting of pyrimidine with methyl substituents at the 4- and 6-positions and a 4-aminobenzenesulfonamido group at the 2-position.


name: SAR1A_HUMAN Small COPII coat GTPase SAR1A (sprot)

description: A GTP-binding protein SAR1a that is encoded in the genome of human.


name: NEP1_HUMAN Ribosomal RNA small subunit methyltransferase NEP1 (sprot)

description: A ribosomal RNA small subunit methyltransferase NEP1 that is encoded in the genome of human.


name: BAMBI_HUMAN BMP and activin membrane-bound inhibitor homolog (sprot)

description: A BMP and activin membrane-bound inhibitor that is encoded in the genome of human.


arteriosclerosis obliterans

description: Common occlusive arterial disease which is caused by atherosclerosis. It is characterized by lesions in the innermost layer (arterial intima) of arteries including the aorta and its branches to the extremities. Risk factors include smoking, hyperlipidemia, and hypertension.


name: DGKA_HUMAN Diacylglycerol kinase alpha (sprot)

description: A diacylglycerol kinase alpha that is encoded in the genome of human.


tiamulin

A carbotricyclic compound that is pleuromutilin in which the hydroxyacetate group is replaced by a 2-{[2-(diethylamino)ethyl]sulfanyl}acetate group. An antibacterial drug, tiamulin is used in veterinary medicine (generally as its hydrogen fumarate salt) for the treatment of swine dysentery caused by Serpulina hyodysenteriae.


CLD10_HUMAN Claudin-10 (sprot)

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


Vogt-Koyanagi-Harada disease

description: A bilateral, chronic, diffuse granulomatous panuveitis typically characterized by serous retinal detachment and frequently associated with neurological (meningitis), auditory, and dermatological alterations.


name: NFH_HUMAN Neurofilament heavy polypeptide (sprot)

description: A neurofilament heavy polypeptide that is encoded in the genome of human.


RHPN1_HUMAN Rhophilin-1 (sprot)

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


SEM4D_HUMAN Semaphorin-4D (sprot)

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


polyarticular arthritis

description: An arthritis affecting five or more separate joints.


name: SSR4_HUMAN Somatostatin receptor type 4 (sprot)

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


MCLN3_HUMAN Mucolipin-3 (sprot)

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


name: MAGI1_HUMAN Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 (sprot)

description: A membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 that is encoded in the genome of human.


phosphatidylcholine (16:0/18:1)

A phosphatidylcholine 34:1 in which the fatty acyl groups at positions 1 and 2 are specified as C16:0 and C18:1 respectively.


name: SOX7_HUMAN Transcription factor SOX-7 (sprot)

description: A transcription factor SOX-7 that is encoded in the genome of human.


name: RDH5_HUMAN Retinol dehydrogenase 5 (sprot)

description: A retinol dehydrogenase 5 that is encoded in the genome of human.


name: RTP4_HUMAN Receptor-transporting protein 4 (sprot)

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


name: IBPL1_HUMAN Insulin-like growth factor-binding protein-like 1 (sprot)

description: An insulin-like growth factor-binding protein-like 1 that is encoded in the genome of human.


name: FXYD4_HUMAN FXYD domain-containing ion transport regulator 4 (sprot)

description: An FXYD domain-containing ion transport regulator 4 that is encoded in the genome of human.


relapsing-remitting multiple sclerosis

description: The most common clinical variant of multiple sclerosis, characterized by recurrent acute exacerbations of neurologic dysfunction followed by partial or complete recovery. Common clinical manifestations include loss of visual (see optic neuritis), motor, sensory, or bladder function. Acute episodes of demyelination may occur at any site in the central nervous system, and commonly involve the optic nerves, spinal cord, brain stem, and cerebellum. (Adams et al., Principles of Neurology, 6th ed, pp903-914)


name: INT3_HUMAN Integrator complex subunit 3 (sprot)

description: An integrator complex subunit 3 that is encoded in the genome of human.


mestranol

A terminal acetylenic compound that is (17alpha)-17-ethynylestra-1(10),2,4-triene substituted by a methoxy group at position 3 and a hydroxy group at position 17.


name: T53I1_HUMAN Tumor protein p53-inducible nuclear protein 1 (sprot)

description: A tumor protein p53-inducible nuclear protein 1 that is encoded in the genome of human.


name: DHX15_HUMAN ATP-dependent RNA helicase DHX15 (sprot)

description: An ATP-dependent RNA helicase DHX15 that is encoded in the genome of human.


name: NOB1_HUMAN RNA-binding protein NOB1 (sprot)

description: An RNA-binding protein NOB1 that is encoded in the genome of human.


name: RL18_HUMAN Large ribosomal subunit protein eL18 (sprot)

description: A large ribosomal subunit protein eL18 that is encoded in the genome of human.


tacalcitol

A hydroxy seco-steroid that is calciol which carries hydroxy groups at positions 1S and 24R. It is a vitamin D3 analog which is used for the treatment of psoriasis vulgaris in adults, especially on the scalp.


BISDEMETHOXYCURCUMIN

A beta-diketone that is methane in which two of the hydrogens are substituted by 4-hydroxycinnamoyl groups.


name: PCDA6_HUMAN Protocadherin alpha-6 (sprot)

description: A protocadherin alpha-6 that is encoded in the genome of human.


MA2A1_HUMAN Alpha-mannosidase 2 (sprot)

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


name: AL5AP_HUMAN Arachidonate 5-lipoxygenase-activating protein (sprot)

description: An arachidonate 5-lipoxygenase-activating protein that is encoded in the genome of human.


PRS57_HUMAN Serine protease 57 (sprot)

A serine protease 57 that is encoded in the genome of human.


name: RETR1_HUMAN Reticulophagy regulator 1 (sprot)

description: A reticulophagy regulator 1 that is encoded in the genome of human.


abiraterone acetate

A sterol ester obtained by formal condensation of the 3-hydroxy group of abiraterone with the carboxy group of acetic acid. A prodrug that is converted in vivo into abiraterone. Used for treatment of metastatic castrate-resistant prostate cancer.


otitis media, susceptibility to

description: Increased susceptibility to otitis media, as manifested by recurrent episodes of otitis media.


name: SCNBA_HUMAN Sodium channel protein type 11 subunit alpha (sprot)

description: A sodium channel protein type 11 subunit alpha that is encoded in the genome of human.


alsterpaullone

An organic heterotetracyclic compound that is 1,3-dihydro-2H-1-benzazepin-2-one which shares its 4-5 bond with the 3-2 bond of 5-nitro-1H-indole.


name: TNR19_HUMAN Tumor necrosis factor receptor superfamily member 19 (sprot)

description: A tumor necrosis factor receptor superfamily member 19 that is encoded in the genome of human.


BSCL2_HUMAN Seipin (sprot)

A seipin that is encoded in the genome of human.


Cytokine storm

description: Excessive or uncontrolled release of proinflammatory cytokines.


tricaine

A benzoate ester that is the ethyl ester of 3-aminobenzoic acid. Used (in the form of its methanesulfonate salt) as an anaesthetic for fish.


Renal vein thrombosis

description: The presence of a thrombus (blood clot) in the major renal veins or its tributaries, generally leading to passive congestion that develops causes the affected kidney to swell and become engorged, leading to degeneration of nephrons and causing symptoms of flank pain, hematuria, and decreased urine output.


ACTN3_HUMAN Alpha-actinin-3 (sprot)

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


RABL6_HUMAN Rab-like protein 6 (sprot)

A Rab-like protein 6 that is encoded in the genome of human.


name: MOG1_HUMAN Ran guanine nucleotide release factor (sprot)

description: A Ran guanine nucleotide release factor that is encoded in the genome of human.


name: FBXW5_HUMAN F-box/WD repeat-containing protein 5 (sprot)

description: An F-box/WD repeat-containing protein 5 that is encoded in the genome of human.


phosphatidylethanolamine (P-16:0/20:1)

A phosphatidylethanolamine P-36:1 in which the 1-alkenyl group contains 16 carbons and no additional double bonds while the acyl group contains 20 carbons and 1 double bond.


nizatidine

A member of the class of 1,3-thiazoles having a dimethylaminomethyl substituent at position 2 and an alkylthiomethyl moiety at position 4.


name: SMC3_HUMAN Structural maintenance of chromosomes protein 3 (sprot)

description: A structural maintenance of chromosomes protein 3 that is encoded in the genome of human.


description: A carcinoma that arises from glandular epithelial cells of the esophagogastric junction.


name: DLX6_HUMAN Homeobox protein DLX-6 (sprot)

description: A homeobox protein DLX-6 that is encoded in the genome of human.


name: TM163_HUMAN Transmembrane protein 163 (sprot)

description: A transmembrane protein 163 that is encoded in the genome of human.


anuria

description: Absence of urine output.


nystatin

A heterogeneous mixture of polyene compounds produced by cultures of Streptomyces noursei. It mainly consists of three biologically active components designated nystatin A1, nystatin A2, and nystatin A3. It is used to treat oral and dermal fungal infections.


name: MOB2_HUMAN MOB kinase activator 2 (sprot)

description: A MOB kinase activator 2 that is encoded in the genome of human.


pipamperone

A member of the class of  bipiperidines that is 1,4'-bipiperidine which is substituted at the 1' and 4' positions by 4-(p-fluorophenyl)-4-oxobutyl and carboxamide groups, respectively. A first generation antipsychotic, its properties are generally similar to those of haloperidol.


name: AT1A4_HUMAN Sodium/potassium-transporting ATPase subunit alpha-4 (sprot)

description: A sodium/potassium-transporting ATPase subunit alpha-4 that is encoded in the genome of human.


name: EDEM1_HUMAN ER degradation-enhancing alpha-mannosidase-like protein 1 (sprot)

description: An ER degradation-enhancing alpha-mannosidase-like protein 1 that is encoded in the genome of human.


cleft lip

description: A congenital abnormality consisting of one or more clefts (splits) in the upper lip, which may be accompanied by a cleft palate; it is the result of the failure of the embryonic parts of the lip to fuse.


name: CBS_HUMAN Cystathionine beta-synthase (sprot)

description: A cystathionine beta-synthase that is encoded in the genome of human.


IL36B_HUMAN Interleukin-36 beta (sprot)

An interleukin-36 beta that is encoded in the genome of human.


name: CALL4_HUMAN Calmodulin-like protein 4 (sprot)

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


collagenous colitis

description: A type of microscopic colitis of unknown etiology. It is characterized by the presence of collagen deposits in the lamina propria of the colonic mucosa. Patients present with chronic watery diarrhea. Colonoscopy reveals normal-appearing mucosa. The diagnosis is made with the microscopic examination of the colonic biopsy samples.


SITOGLUSIDE

A steroid saponin that is sitosterol attached to a beta-D-glucopyranosyl residue at position 3 via a glycosidic linkage. It has bee isolated from Panax japonicus var. major and Breynia fruticosa.


D-arginine

A D-alpha-amino acid that is the D-isomer of arginine.


name: VSIG2_HUMAN V-set and immunoglobulin domain-containing protein 2 (sprot)

description: A V-set and immunoglobulin domain-containing protein 2 that is encoded in the genome of human.


seborrheic dermatitis

description: A chronic, inflammatory skin disorder that affects the scalp, central face and skin folds; it is characterized by scaling and itching.


name: IRF9_HUMAN Interferon regulatory factor 9 (sprot)

description: An interferon regulatory factor 9 that is encoded in the genome of human.


Dicarboxylate anion of D-glucaric acid; major species at pH 7.3.


name: SEC13_HUMAN Protein SEC13 homolog (sprot)

description: A protein SEC13 that is encoded in the genome of human.


name: estrogen-receptor negative breast cancer

description: A subtype of breast cancer that is estrogen-receptor negative


autoimmune optic neuritis

description: An autoimmune form of optic neuritis.


borna disease

description: An encephalomyelitis of horses, sheep and cattle caused by borna disease virus.


SPB9_HUMAN Serpin B9 (sprot)

A serpin B9 that is encoded in the genome of human.


BENZO[DEF]CHRYSENE

An ortho- and peri-fused polycyclic arene consisting of five fused benzene rings.


name: S61A1_HUMAN Protein transport protein Sec61 subunit alpha isoform 1 (sprot)

description: A protein transport protein Sec61 subunit alpha isoform 1 that is encoded in the genome of human.


description: Idiopathic membranous glomerulonephritis (IMG) is a primary glomerular disease characterized by proteinuria, usually in the nephrotic range, with preserved renal function.


CNTN3_HUMAN Contactin-3 (sprot)

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


mast cell activation syndrome

description: A clinically defined disease states with a largely unknown morphological background. Acute mast cell activation (MCA) is commonly seen in allergic reactions and often leads to the clinical signs and symptoms of anaphylaxis. Severe or even life‐threatening MCA may occur when the burden of mast cells is high and/or these cells are in an hyperactivated state. Mastocytosis may be associated with mast cell activation syndrome (MCAS).


TCO1_HUMAN Transcobalamin-1 (sprot)

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


aggressive systemic mastocytosis

description: Aggressive systemic mastocytosis (ASM) is a severe and rare form of systemic mastocytosis (SM) characterized by considerable infiltration of mast cells in different tissues.


name: TSR2_HUMAN Pre-rRNA-processing protein TSR2 homolog (sprot)

description: A pre-rRNA-processing protein TSR2 that is encoded in the genome of human.


hypophosphatasia

description: Hypophosphatasia (HPP) is a rare heritable metabolic disorder characterized by defective mineralization of bone and/or teeth in the presence of reduced activity of unfractionated serum alkaline phosphatase (ALP). The clinical spectrum is extremely wide, from stillbirth at one end to fractures of the lower extremities in adulthood, at the other, or even no bone manifestations (odontohypophosphatasia).


name: U520_HUMAN U5 small nuclear ribonucleoprotein 200 kDa helicase (sprot)

description: A U5 small nuclear ribonucleoprotein 200 kDa helicase that is encoded in the genome of human.


diacylglycerol (16:0/20:4/0:0)

A 1,2-diglyceride in which the fatty acyl groups at positions 1 and 2 are specified as C16:0 and C20:4 respectively.


name: CELR3_HUMAN Cadherin EGF LAG seven-pass G-type receptor 3 (sprot)

description: A cadherin EGF LAG seven-pass G-type receptor 3 that is encoded in the genome of human.


dental fluorosis

description: A condition that results from excessive fluoride ingestion during tooth development, resulting in tooth discoloration ranging from white streaks to brown stains and cracks or pits in the tooth enamel.


name: KS6A4_HUMAN Ribosomal protein S6 kinase alpha-4 (sprot)

description: A ribosomal protein S6 kinase alpha-4 that is encoded in the genome of human.


name: STK25_HUMAN Serine/threonine-protein kinase 25 (sprot)

description: A serine/threonine-protein kinase 25 that is encoded in the genome of human.


name: FACR1_HUMAN Fatty acyl-CoA reductase 1 (sprot)

description: A fatty acyl-CoA reductase 1 that is encoded in the genome of human.


name: MRP8_HUMAN ATP-binding cassette sub-family C member 11 (sprot)

description: An ATP-binding cassette sub-family C member 11 that is encoded in the genome of human.


name: CNGA2_HUMAN Cyclic nucleotide-gated channel alpha-2 (sprot)

description: A cyclic nucleotide-gated olfactory channel that is encoded in the genome of human.


name: TFEB_HUMAN Transcription factor EB (sprot)

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


name: UBP25_HUMAN Ubiquitin carboxyl-terminal hydrolase 25 (sprot)

description: A ubiquitin carboxyl-terminal hydrolase 25 that is encoded in the genome of human.


name: DHX8_HUMAN ATP-dependent RNA helicase DHX8 (sprot)

description: An ATP-dependent RNA helicase DHX8 that is encoded in the genome of human.


name: ECSCR_HUMAN Endothelial cell-specific chemotaxis regulator (sprot)

description: An endothelial cell-specific chemotaxis regulator that is encoded in the genome of human.


oxyphenbutazone

A metabolite of phenylbutazone obtained by hydroxylation at position 4 of one of the phenyl rings. Commonly used (as its hydrate) to treat pain, swelling and stiffness associated with arthritis and gout, it was withdrawn from the market 1984 following association with blood dyscrasis and Stevens-Johnson syndrome.


lasofoxifene

A member of the class of tetralins that is 5,6,7,8-tetrahydronaphthalen-2-ol in which the hydrogens at positions 5 and 6 are replaced by 4-[2-(pyrrolidin-1-yl)ethoxy]phenyl and phenyl groups, respectively (the 5R,6S-stereoisomer). It is a selective estrogen receptor modulator indicated for the prevention and treatment of osteoporosis in post-menopausal women.


blebbistatin

A pyrroloquinoline that is 1,2,3,3a-tetrahydro-H-pyrrolo[2,3-b]quinolin-4-one substituted by a hydroxy group at position 3a, a methyl group at position 6 and a phenyl group at position 1. It acts as an inhibitor of ATPase activity of non-muscle myosin II.


name: JAZF1_HUMAN Juxtaposed with another zinc finger protein 1 (sprot)

description: A juxtaposed with another zinc finger protein 1 that is encoded in the genome of human.


name: M3K9_HUMAN Mitogen-activated protein kinase kinase kinase 9 (sprot)

description: A mitogen-activated protein kinase kinase kinase 9 that is encoded in the genome of human.


Biliary hyperplasia

description: Hyperplasia of the biliary tree, as manifested by increased size of bile ducts, dilated lumen, and histologically by an increased number of epithelial cells or hyperplasia.


Localized periodontitis

description: A localized form of periodontitis.


CUL9_HUMAN Cullin-9 (sprot)

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


NPHP1_HUMAN Nephrocystin-1 (sprot)

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


name: GALT3_HUMAN Polypeptide N-acetylgalactosaminyltransferase 3 (sprot)

description: A polypeptide N-acetylgalactosaminyltransferase 3 that is encoded in the genome of human.


pantothenic acid

A pantothenic acid having R-configuration.


name: FYN_HUMAN Tyrosine-protein kinase Fyn (sprot)

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


central congenital hypothyroidism

description: Central or secondary congenital hypothyroidism is a type of permanent congenital hypothyroidism characterized by permanent thyroid hormone deficiency that is present from birth and secondary to a disorder in the thyroid-stimulating hormone (TSH) - thyrotropin-releasing hormone (TRH) system.


RSPO3_HUMAN R-spondin-3 (sprot)

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


yellow fever

description: Yellow fever (YF), caused by YF virus, is a zoonotic disease characterized by fever and constitutional symptoms, with the potential to progress to severe and fatal viral hemorrhagic fever with shock and multi-organ system failure.


CNN2_HUMAN Calponin-2 (sprot)

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


dextrothyroxine

The D-enantiomer of thyroxine.


APOC1_HUMAN Apolipoprotein C-I (sprot)

An apolipoprotein C-I that is encoded in the genome of human.


name: CRLD2_HUMAN Cysteine-rich secretory protein LCCL domain-containing 2 (sprot)

description: A cysteine-rich secretory protein LCCL domain-containing 2 that is encoded in the genome of human.


name: RAC3_HUMAN Ras-related C3 botulinum toxin substrate 3 (sprot)

description: A Ras-related C3 botulinum toxin substrate 3 that is encoded in the genome of human.


name: SLN13_HUMAN Schlafen family member 13 (sprot)

description: A Schlafen family member 13 that is encoded in the genome of human.


name: ABCA3_HUMAN Phospholipid-transporting ATPase ABCA3 (sprot)

description: A phospholipid-transporting ATPase ABCA3 that is encoded in the genome of human.


name: CRFR2_HUMAN Corticotropin-releasing factor receptor 2 (sprot)

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


tepoxalin

A hydroxamic acid obtained by formal condensation of the carboxy group of 3-[5-(4-chlorophenyl)-1-(4-methoxyphenyl)pyrazol-3-yl]propanoic acid with the amino group of N-methylhydroxylamine. It is used in veterinary medicine for the control of pain and inflammation caused by musculoskeletal disorders such as hip dysplasia and arthritis in dogs.


name: IL18R_HUMAN Interleukin-18 receptor 1 (sprot)

description: An interleukin-18 receptor 1 that is encoded in the genome of human.


name: FBX25_HUMAN F-box only protein 25 (sprot)

description: An F-box only protein 25 that is encoded in the genome of human.


name: RL18A_HUMAN Large ribosomal subunit protein eL20 (sprot)

description: A large ribosomal subunit protein eL20 that is encoded in the genome of human.


asenapine

An organic heterotetracyclic compound that is 2,3,3a,12b-tetrahydrodibenzo[2,3:6,7]oxepino[4,5-c]pyrrole bearing methyl and chloro substituents at positions 2 and 5 respectively.


TSP3_HUMAN Thrombospondin-3 (sprot)

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


thyroid gland follicular carcinoma

description: A differentiated adenocarcinoma arising from the follicular cells of the thyroid gland. The nuclear features which characterize the thyroid gland papillary carcinoma are absent. Radiation exposure is a risk factor and it comprises approximately 10% to 15% of thyroid cancers. Clinically, it usually presents as a solitary mass in the thyroid gland. It is generally unifocal and thickly encapsulated and shows invasion of the capsule or the vessels. Diagnostic procedures include thyroid ultrasound and fine needle biopsy.


name: VENTX_HUMAN Homeobox protein VENTX (sprot)

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


name: MRM1_HUMAN rRNA methyltransferase 1, mitochondrial (sprot)

description: An rRNA methyltransferase 1, mitochondrial that is encoded in the genome of human.


name: NAB2_HUMAN NGFI-A-binding protein 2 (sprot)

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


WT1_HUMAN Wilms tumor protein (sprot)

A Wilms tumor protein that is encoded in the genome of human.


name: ZMY10_HUMAN Zinc finger MYND domain-containing protein 10 (sprot)

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


name: LN28A_HUMAN Protein lin-28 homolog A (sprot)

description: A protein lin-28 homolog A that is encoded in the genome of human.


AVIL_HUMAN Advillin (sprot)

An advillin that is encoded in the genome of human.


name: RHG08_HUMAN Rho GTPase-activating protein 8 (sprot)

description: A Rho GTPase-activating protein 8 that is encoded in the genome of human.


name: DDX24_HUMAN ATP-dependent RNA helicase DDX24 (sprot)

description: An ATP-dependent RNA helicase DDX24 that is encoded in the genome of human.


name: CAN1_HUMAN Calpain-1 catalytic subunit (sprot)

description: A calpain-1 catalytic subunit that is encoded in the genome of human.


name: GALR2_HUMAN Galanin receptor type 2 (sprot)

description: A galanin receptor type 2 that is encoded in the genome of human.


name: GPAT4_HUMAN Glycerol-3-phosphate acyltransferase 4 (sprot)

description: A glycerol-3-phosphate acyltransferase 4 that is encoded in the genome of human.


AMPD3_HUMAN AMP deaminase 3 (sprot)

An AMP deaminase 3 that is encoded in the genome of human.


choroid plexus carcinoma

description: A malignant neoplasm arising from the choroid plexus. It shows anaplastic features and usually invades neighboring brain structures. Cerebrospinal fluid metastases are frequent. (Adapted from WHO)


partial lipodystrophy

description: Loss and redistribution of subcutaneous and/or visceral adipose tissue from specific regions of the body.


name: PHAR3_HUMAN Phosphatase and actin regulator 3 (sprot)

description: A phosphatase and actin regulator 3 that is encoded in the genome of human.


name: AP2B_HUMAN Transcription factor AP-2-beta (sprot)

description: A transcription factor AP-2-beta that is encoded in the genome of human.


Usher syndrome

description: A syndromic diseae characterized by the association of sensorineural deafness (usually congenital) with retinitis pigmentosa and progressive vision loss.


name: KLHL5_HUMAN Kelch-like protein 5 (sprot)

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


Ageusia

description: A rare condition that is characterized by a complete loss of taste function of the tongue.


name: NDUBB_HUMAN NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 11, mitochondrial (sprot)

description: An NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 11, mitochondrial that is encoded in the genome of human.


name: SG11B_HUMAN Sperm-associated antigen 11B (sprot)

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


name: MTCL1_HUMAN Microtubule cross-linking factor 1 (sprot)

description: A microtubule cross-linking factor 1 that is encoded in the genome of human.


DEXVERAPAMIL

A 2-(3,4-dimethoxyphenyl)-5-{[2-(3,4-dimethoxyphenyl)ethyl](methyl)amino}-2-(propan-2-yl)pentanenitrile that has R configuration. It competitively inhibits the multidrug resistance efflux pump P-glycoprotein (MDR-1, EC 3.6.3.44), thereby potentially increasing the effectiveness of a wide range of antineoplastic drugs which are inactivated by MDR-1 mechanisms. Dexverapamil exhibits lower calcium antagonistic activity and toxicity than racemic verapamil.


name: TA2R3_HUMAN Taste receptor type 2 member 3 (sprot)

description: A taste receptor type 2 member 3 that is encoded in the genome of human.


AL amyloidosis

description: AL Amyloidosis is a plasma cell disorder characterized by the aggregation and deposition of insoluble amyloid fibrils derived from misfolding of monoclonal immunoglobulin light chains usually produced by a plasma cell tumor. It usually presents as primary systemic amyloidosis (PSA) with multiple organ involvement and less frequently as primary localized amyloidosis (PLA) restricted to a single organ.


TERPINEOL

A terpineol that is 1-menthene carrying a hydroxy substituent at position 4.


IRINOTECAN HYDROCHLORIDE

A hydrochloride obtained by combining irinotecan with one molar equivalent of hydrochloric acid. Used (in the form of its trihydrate) in combination with fluorouracil and leucovorin, for the treatment of patients with metastatic adenocarcinoma of the pancreas after disease progression following gemcitabine-based therapy. It is converted via hydrolysis of the carbamate linkage to its active metabolite, SN-38, which is ~1000 times more active.


name: GNB5_HUMAN Guanine nucleotide-binding protein subunit beta-5 (sprot)

description: A guanine nucleotide-binding protein subunit beta-5 that is encoded in the genome of human.


name: RAB26_HUMAN Ras-related protein Rab-26 (sprot)

description: A Ras-related protein Rab-26 that is encoded in the genome of human.


CYH1_HUMAN Cytohesin-1 (sprot)

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


Cervical lymphadenopathy

description: Enlarged lymph nodes in the neck.


name: KIRR2_HUMAN Kin of IRRE-like protein 2 (sprot)

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


name: TTC3_HUMAN E3 ubiquitin-protein ligase TTC3 (sprot)

description: An E3 ubiquitin-protein ligase TTC3 that is encoded in the genome of human.


Lemierre syndrome

description: Lemierre syndrome is a rare, potentially lethal, oropharyngeal infectious disease occurring in immunocompetent adolescents and young adults that is mainly due to Fusobacterium necrophorum and that is characterized by septic thrombophlebitis of the internal jugular vein that leads to septic, usually pulmonary, embolism, associated with ENT (ear, nose, and throat) infection that manifests with fever, neck pain, and tonsillopharyngitis.


NMI_HUMAN N-myc-interactor (sprot)

An N-myc-interactor that is encoded in the genome of human.


name: IRX5_HUMAN Iroquois-class homeodomain protein IRX-5 (sprot)

description: An iroquois-class homeodomain protein IRX-5 that is encoded in the genome of human.


name: FBX31_HUMAN F-box only protein 31 (sprot)

description: An F-box only protein 31 that is encoded in the genome of human.


D-methionine

An optically active form of methionine having D-configuration.


Gastrointestinal inflammation

description: Inflammation of the alimentary part of the gastrointestinal system.


Alzheimer disease 19

description: Any Alzheimer disease in which the cause of the disease is a mutation in the PLD3 gene.


tendinitis

description: Inflammation of a tendon, usually resulting from an overuse injury. It is characterized by swelling of the tendon, tenderness around the inflamed tendon, and pain while moving the affected area of the body.


name: ALAT1_HUMAN Alanine aminotransferase 1 (sprot)

description: An alanine aminotransferase 1 that is encoded in the genome of human.


name: FOXJ1_HUMAN Forkhead box protein J1 (sprot)

description: A forkhead box protein J1 that is encoded in the genome of human.


name: ABCB5_HUMAN ATP-binding cassette sub-family B member 5 (sprot)

description: An ATP-binding cassette sub-family B member 5 that is encoded in the genome of human.


name: TSYL2_HUMAN Testis-specific Y-encoded-like protein 2 (sprot)

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


TENR_HUMAN Tenascin-R (sprot)

A tenascin-R that is encoded in the genome of human.


name: BT3A3_HUMAN Butyrophilin subfamily 3 member A3 (sprot)

description: A butyrophilin subfamily 3 member A3 that is encoded in the genome of human.


NCDN_HUMAN Neurochondrin (sprot)

A neurochondrin that is encoded in the genome of human.


name: CLIC1_HUMAN Chloride intracellular channel protein 1 (sprot)

description: A chloride intracellular channel protein 1 that is encoded in the genome of human.


name: UN13B_HUMAN Protein unc-13 homolog B (sprot)

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


amorolfine hydrochloride

A hydrochloride resulting from the formal reacton of equimolar amounts of hydrogen chloride and amorolfine. An inhibitor of the action of squalene monooxygenase, Delta(14) reductase and D7-D8 isomerase and an antifungal agent, it is used for the topical treatment of fungal nail and skin infections.


copper(II) sulfate

A metal sulfate compound having copper(2+) as the metal ion.


name: Decreased circulating copper concentration

description: A reduced concentration of copper in the blood.


name: PGPIL_HUMAN Pyroglutamyl-peptidase 1-like protein (sprot)

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


name: TEX11_HUMAN Testis-expressed protein 11 (sprot)

description: A testis-expressed protein 11 that is encoded in the genome of human.


name: PLCB4_HUMAN 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-4 (sprot)

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


name: RFX2_HUMAN DNA-binding protein RFX2 (sprot)

description: A DNA-binding protein RFX2 that is encoded in the genome of human.


ROXARSONE

An organoarsonic acid where the organyl group is 4-hydroxy-3-nitrophenyl.


name: NKX32_HUMAN Homeobox protein Nkx-3.2 (sprot)

description: A homeobox protein Nkx-3.2 that is encoded in the genome of human.


candoxatril

The 2,3-dihydro-1H-inden-5-yl ester of the active enantiomer of candoxatrilat. Candoxatril is an orally active prodrug of candoxatrilat, a potent neutral endopeptidase (NEP, neprilysin) inhibitor used in the treatment of chronic heart failure.


name: PTN9_HUMAN Tyrosine-protein phosphatase non-receptor type 9 (sprot)

description: A tyrosine-protein phosphatase non-receptor type 9 that is encoded in the genome of human.


ataxia-telangiectasia-like disorder

description: An autosomal recessive condition caused by mutation(s) in the MRE11A gene, encoding double-strand break repair protein MRE11. It is characterized by progressive cerebellar degeneration resulting in ataxia and oculomotor apraxia.


name: DOCK2_HUMAN Dedicator of cytokinesis protein 2 (sprot)

description: A dedicator of cytokinesis protein 2 that is encoded in the genome of human.


phosphoenolpyruvic acid

A monocarboxylic acid that is acrylic acid substituted by a phosphonooxy group at position 2. It is a metabolic intermediate in pathways like glycolysis and gluconeogenesis.


name: ULK3_HUMAN Serine/threonine-protein kinase ULK3 (sprot)

description: A serine/threonine-protein kinase ULK3 that is encoded in the genome of human.


hypertrophic pyloric stenosis

description: An abnormality characterized by thickening of the muscle in the wall of the pylorus. It results in the narrowing of the pyloric channel. The overlying mucosa may appear hypertrophic as well. Clinical signs and symptoms appear early in life and include projectile vomiting and dehydration.


name: GDS1_HUMAN Rap1 GTPase-GDP dissociation stimulator 1 (sprot)

description: A Rap1 GTPase-GDP dissociation stimulator 1 that is encoded in the genome of human.


name: ZIK1_HUMAN Zinc finger protein interacting with ribonucleoprotein K (sprot)

description: A zinc finger protein interacting with ribonucleoprotein K that is encoded in the genome of human.


potassium citrate

The anhydrous form of the tripotassium salt of citric acid.


name: CSTF2_HUMAN Cleavage stimulation factor subunit 2 (sprot)

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


neoplastic syndrome

description: A broad classification for disorders in which the development of neoplasms typically occur in association with a characteristic set of signs or symptoms. These disorders may be inherited or acquired.


name: AOC1_HUMAN Diamine oxidase [copper-containing] (sprot)

description: An amiloride-sensitive amine oxidase [copper-containing] that is encoded in the genome of human.


name: BTK_HUMAN Tyrosine-protein kinase BTK (sprot)

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


ZFY27_HUMAN Protrudin (sprot)

A protrudin that is encoded in the genome of human.


name: PDZD8_HUMAN PDZ domain-containing protein 8 (sprot)

description: A PDZ domain-containing protein 8 that is encoded in the genome of human.


sclerosing cholangitis

description: A chronic, autoimmune inflammatory liver disorder characterized by narrowing and scarring of the lumen of the bile ducts. It is often seen in patients with ulcerative colitis. Signs and symptoms include jaundice, fatigue, and malabsorption. It may lead to cirrhosis and liver failure.


androgenetic alopecia

description: Absence of hair in the anterior midline and/or parietal areas.


P63_HUMAN Tumor protein 63 (sprot)

A tumor protein 63 that is encoded in the genome of human.


name: TRPM1_HUMAN Transient receptor potential cation channel subfamily M member 1 (sprot)

description: A transient receptor potential cation channel subfamily M member 1 that is encoded in the genome of human.


name: FOXN1_HUMAN Forkhead box protein N1 (sprot)

description: A forkhead box protein N1 that is encoded in the genome of human.


KAIN_HUMAN Kallistatin (sprot)

A kallistatin that is encoded in the genome of human.


sodium propionate

An organic sodium salt comprising equal numbers of sodium and propionate ions.


Kleine-Levin syndrome

description: Kleine-Levin syndrome (KLS) is a rare neurological disorder of unknown origin characterized by relapsing-remitting episodes of hypersomnia in association with cognitive and behavioral disturbances.


SHLB1_HUMAN Endophilin-B1 (sprot)

An endophilin-B1 that is encoded in the genome of human.


ANXA4_HUMAN Annexin A4 (sprot)

An annexin A4 that is encoded in the genome of human.


A 1-(4-{[2-(2,4-dichlorophenyl)-2-(1H-1,2,4-triazol-1-ylmethyl)-1,3-dioxolan-4-yl]methoxy}phenyl)-4-isopropylpiperazine in which positions 2 and 4 of the 1,3-dioxolane moiety have S and R configuration, respectively.


name: VPS35_HUMAN Vacuolar protein sorting-associated protein 35 (sprot)

description: A vacuolar protein sorting-associated protein 35 that is encoded in the genome of human.


N-methylmorpholine N-oxide

A morpholine N-oxide resulting from the oxidation of the amino group of N-methylmorpholine.


rectal carcinoma

description: A malignant epithelial neoplasm that arises from the rectum and invades through the muscularis mucosa into the submucosa. The vast majority are adenocarcinomas.


name: NCK2_HUMAN Cytoplasmic protein NCK2 (sprot)

description: A cytoplasmic protein NCK2 that is encoded in the genome of human.


name: DOPO_HUMAN Dopamine beta-hydroxylase (sprot)

description: A dopamine beta-hydroxylase that is encoded in the genome of human.


KAEMPFERIDE

A monomethoxyflavone that is the 4'-O-methyl derivative of kaempferol.


AUXI_HUMAN Auxilin (sprot)

A putative tyrosine-protein phosphatase auxilin that is encoded in the genome of human.


trans,trans-muconic acid

The trans,trans-isomer of muconic acid. It is metabolite of benzene in humans and serves as a biomarker of occupational exposure to benzene.


cilastatin

The thioether resulting from the formal oxidative coupling of the thiol group of L-cysteine with the 7-position of (2Z)-2-({[(1S)-2,2-dimethylcyclopropyl]carbonyl}amino)hept-2-enoic acid. It is an inhibitor of dehydropeptidase I (membrane dipeptidase, 3.4.13.19), an enzyme found in the brush border of renal tubes and responsible for degrading the antibiotic imipenem. Cilastatin is therefore administered (as the sodium salt) with  imipenem to prolong the antibacterial effect of the latter by preventing its renal metabolism to inactive and potentially nephrotoxic products. Cilastatin also acts as a leukotriene D4 dipeptidase inhibitor, preventing the metabolism of leukotriene D4 to leukotriene E4.


bone sarcoma

description: A sarcoma that arises from the bone. Representative examples are osteosarcoma and chondrosarcoma.


name: NUBP2_HUMAN Cytosolic Fe-S cluster assembly factor NUBP2 (sprot)

description: A cytosolic Fe-S cluster assembly factor NUBP2 that is encoded in the genome of human.


name: STB5L_HUMAN Syntaxin-binding protein 5-like (sprot)

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


familial partial lipodystrophy

description: Familial partial lipodystrophy (FPLD) is a group of rare genetic lipodystrophic syndromes characterized, in most cases, by fat loss from the limbs and buttocks, from childhood or early adulthood, and often associated with acanthosis nigricans, insulin resistance, diabetes, hypertriglyceridemia and liver steatosis.


Cornelia de Lange syndrome

description: A rare syndrome characterized by low birth weight, delayed growth, intellectual disabillity, behavioral problems, and a distinctive facial appearance (thin, arched eyebrows, low set ears, small teeth, and small nose). The majority of cases are caused by mutations in the NIPBL gene. Less severe forms of the syndrome are caused by mutations in the SMC1A and SMC3 genes.


name: benign recurrent intrahepatic cholestasis

description: Benign recurrent intrahepatic cholestasis (BRIC) is a hereditary liver disorder characterized by intermittent episodes of intrahepatic cholestasis, generally without progression to chronic liver damage. BRIC is now believed to belong to a clinical spectrum of intrahepatic cholestatic disorders that ranges from the mild intermittent attacks in BRIC to the severe, chronic and progressive cholestasis seen in progressive familial intrahepatic cholestasis (PFIC).


name: BRPF3_HUMAN Bromodomain and PHD finger-containing protein 3 (sprot)

description: A bromodomain and PHD finger-containing protein 3 that is encoded in the genome of human.


serositis

description: Inflammation of a serous membrane.


name: VAV2_HUMAN Guanine nucleotide exchange factor VAV2 (sprot)

description: A guanine nucleotide exchange factor VAV2 that is encoded in the genome of human.


name: ST1C4_HUMAN Sulfotransferase 1C4 (sprot)

description: A sulfotransferase 1C4 that is encoded in the genome of human.


name: PSG7_HUMAN Pregnancy-specific beta-1-glycoprotein 7 (sprot)

description: A pregnancy-specific beta-1-glycoprotein 7 that is encoded in the genome of human.


name: C5AR1_HUMAN C5a anaphylatoxin chemotactic receptor 1 (sprot)

description: A C5a anaphylatoxin chemotactic receptor 1 that is encoded in the genome of human.


SPAST_HUMAN Spastin (sprot)

A spastin that is encoded in the genome of human.


name: OVOL2_HUMAN Transcription factor Ovo-like 2 (sprot)

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


Reactive hypoglycemia

description: Hypoglycermia following a meal (or more generally, after intake of glucose).


mast cell neoplasm

description: A heterogeneous group of disorders characterized by the abnormal growth and accumulation of mast cells in one or more organ systems. Recent data suggest that most variants of mast cell neoplasms are clonal disorders. (WHO, 2001)


name: DUS15_HUMAN Dual specificity protein phosphatase 15 (sprot)

description: A dual specificity protein phosphatase 15 that is encoded in the genome of human.


name: PADI1_HUMAN Protein-arginine deiminase type-1 (sprot)

description: A protein-arginine deiminase type-1 that is encoded in the genome of human.


name: CLK1_HUMAN Dual specificity protein kinase CLK1 (sprot)

description: A dual specificity protein kinase CLK1 that is encoded in the genome of human.


name: INGR1_HUMAN Interferon gamma receptor 1 (sprot)

description: An interferon gamma receptor alpha chain that is encoded in the genome of human.


sideroblastic anemia

description: A group of rare heterogeneous inherited or acquired bone marrow disorders, isolated or part of a syndrome, characterized by decreased hemoglobin synthesis, because of defective use of iron (although plasmatic iron levels may be normal or elevated) and the presence of ringed sideroblasts in the bone marrow due to the pathologic iron overload in mitochondria as visualized by Perls' staining. The group encompasses (idiopathic) acquired sideroblastic anemia and constitutional sideroblastic anemias. The latter include syndromic sideroblastic anemias such as Pearson syndrome, mitochondrial mypathy and sideroblastic anemias, x-linked sideroblastic anemia-ataxia, thiamine responsive megaloblastic anemia syndrome and nonsyndromic sideroblastic anemias comprising x-linked and autosomal recessive sideroblastic anemias.


1-lysophosphatidic acid

Any member of the class of lysophosphatidic acids which has a free hydroxy group at the 1-position of the glycerol moiety.


name: PCOC2_HUMAN Procollagen C-endopeptidase enhancer 2 (sprot)

description: A procollagen C-endopeptidase enhancer 2 that is encoded in the genome of human.


name: DYH7_HUMAN Dynein axonemal heavy chain 7 (sprot)

description: A dynein axonemal heavy chain 7 that is encoded in the genome of human.


SPB12_HUMAN Serpin B12 (sprot)

A serpin B12 that is encoded in the genome of human.


name: IL23R_HUMAN Interleukin-23 receptor (sprot)

description: An interleukin-23 receptor that is encoded in the genome of human.


The 9H-tautomer of purine.


ADA_HUMAN Adenosine deaminase (sprot)

An adenosine deaminase that is encoded in the genome of human.


name: VRK1_HUMAN Serine/threonine-protein kinase VRK1 (sprot)

description: A serine/threonine-protein kinase VRK1 that is encoded in the genome of human.


name: DPP3_HUMAN Dipeptidyl peptidase 3 (sprot)

description: A dipeptidyl peptidase 3 (human), isoforms 1, 2, and 4.


dichloroacetyl chloride

The acyl chloride obtained by displacement of the hydroxy group of dichloroacetic acid by chloride.


hepatoportal sclerosis

description: Hepatoportal sclerosis (HPS) is a rare disorder characterized by sclerosis of the intrahepatic portal veins, non-cirrhotic portal hypertension, asymptomatic splenomegaly and recurrent variceal bleeding.


adiposis dolorosa

description: Adiposis dolorosa or Dercum's disease is characterized by the development of multiple, painful, subcutaneous lipomas in association with obesity, asthenia and fatigue, and range of mental disturbances including instability, depression, confusion, dementia and epilepsy.


Alexa Fluor 647

An iminium betaine fluorescent dye with a max absorption wavelength 650 nm and emission wavelength 665 nm. Alexa Fluor 6 is a bright and photostable far-red dye with excitation ideally suited to the 633 nm laser line.


name: GSTM4_HUMAN Glutathione S-transferase Mu 4 (sprot)

description: A glutathione S-transferase mu 4 that is encoded in the genome of human.


Orbital rhabdomyosarcoma

description: A mesenchymal tumor that is considered to be the commonest primary orbital malignancy in children. Histologically, it may be differentiated into embryonal, alveolar, and pleomorphic types. It is usually intraconal or within the superior orbit.


SFXN1_HUMAN Sideroflexin-1 (sprot)

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


oophoritis

description: Inflammation of the ovary, generally caused by an ascending infection of organisms from the endocervix.


MT4_HUMAN Metallothionein-4 (sprot)

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


A 2-oxo monocarboxylic acid anion that is the conjugate base of 3-bromopyruvic acid, arising from deprotonation of the carboxy group.


3-methyl-2-oxovaleric acid

A 2-oxo monocarboxylic acid that is valeric acid carrying oxo- and methyl substituents at C-2 and C-3, respectively. An alpha-keto acid analogue and metabolite of isoleucine in man, animals and bacteria. Used as a clinical marker for maple syrup urine disease (MSUD).


HYDROXYAMINE

The simplest hydroxylamine, consisting of ammonia bearing a hydroxy substituent. It is an intermediate in the biological nitrification by microbes like bacteria.


diffuse cutaneous mastocytosis

description: Diffuse cutaneous mastocytosis (DCM) is a rare form of cutaneous mastocytosis (CM) characterized by generalized erythroderma, various degrees of blistering, skin with a ''peau d'orange'' appearance and the accumulation of mast cells in the skin. At least two DCM variants are recognized, one with extreme blistering (Bullous DCM) and one with infiltrations (Pseudoxanthomatous DCM).


ethyl 3,4-dihydroxybenzoate

An ethyl ester resulting from the formal condensation of the carboxy group of 3,4-dihydroxybenzoic acid with ethanol. It is the anti-oxidative component of peanut seed testa.


name: VIPR2_HUMAN Vasoactive intestinal polypeptide receptor 2 (sprot)

description: A vasoactive intestinal polypeptide receptor 2 that is encoded in the genome of human.


pyridoxine deficiency anemia

description: Deficiency of vitamin B6. It is usually caused by alcoholism, malabsorption, or as a side effect of medications. Signs and symptoms include stomatitis, glossitis, dermatitis, peripheral neuropathy, irritability, seizures, and anemia.


tonsillar squamous cell carcinoma

description: A squamous cell carcinoma that arises from the mucosal lining of the tonsil and tends to metastasize early to the lymph nodes. It predominantly affects middle aged and elderly patients who have a history of alcohol and tobacco use. Patients may present with tonsillar swelling, sore throat, pain radiating to the ipsilateral ear, or a neck mass.


name: ITIH5_HUMAN Inter-alpha-trypsin inhibitor heavy chain H5 (sprot)

description: An inter-alpha-trypsin inhibitor heavy chain H5 that is encoded in the genome of human.


name: SPAT1_HUMAN Spermatogenesis-associated protein 1 (sprot)

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


name: GASR_HUMAN Gastrin/cholecystokinin type B receptor (sprot)

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


name: EMX2_HUMAN Homeobox protein EMX2 (sprot)

description: A homeobox protein EMX2 that is encoded in the genome of human.


name: TYW4_HUMAN tRNA wybutosine-synthesizing protein 4 (sprot)

description: A tRNA wybutosine-synthesizing protein 4 that is encoded in the genome of human.


chronic hepatitis B virus infection

description: Chronic form of hepatitis B infection.


name: MTMRD_HUMAN Myotubularin-related protein 13 (sprot)

description: A myotubularin-related protein 13 that is encoded in the genome of human.


SETBP_HUMAN SET-binding protein (sprot)

A SET-binding protein that is encoded in the genome of human.


name: SPAT7_HUMAN Spermatogenesis-associated protein 7 (sprot)

description: A spermatogenesis-associated protein 7 that is encoded in the genome of human.


Plantar edema

description: An abnormal accumulation of fluid beneath the skin on sole of the foot.


permethrin

A cyclopropanecarboxylate ester in which the esterifying alcohol is 3-phenoxybenzyl alcohol and the cyclopropane ring is substituted with a 2,2-dichlorovinyl group and with gem-dimethyl groups.


neurofibrosarcoma

description: A malignant tumor that arises from small cutaneous nerves, is locally aggressive, and has a potential for metastasis. Characteristic histopathologic features include proliferating atypical spindle cells with slender wavy and pointed nuclei, hypocellular areas, and areas featuring organized whorls of fibroblastic proliferation. The most common primary sites are the extremities, retroperitoneum, and trunk. These tumors tend to present in childhood, often in association with neurofibromatosis 1. (From DeVita et al., Cancer: Principles & Practice of Oncology, 5th ed, p1662; Mayo Clin Proc 1990 Feb;65(2):164-72)


name: CHAC2_HUMAN Glutathione-specific gamma-glutamylcyclotransferase 2 (sprot)

description: A glutathione-specific gamma-glutamylcyclotransferase 2 that is encoded in the genome of human.


name: VMAT2_HUMAN Synaptic vesicular amine transporter (sprot)

description: A synaptic vesicular amine transporter that is encoded in the genome of human.


name: ZFP1_HUMAN Zinc finger protein 1 homolog (sprot)

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


name: ZC3H8_HUMAN Zinc finger CCCH domain-containing protein 8 (sprot)

description: A zinc finger CCCH domain-containing protein 8 that is encoded in the genome of human.


Severely reduced visual acuity

description: Severe reduction of the ability to see. On the 6m visual acuity scale, severe reduction is defined as less than 6/60 but at least 3/60. On the 20ft visual acuity scale, severe reduction is defined as less than 20/200 but at least 20/400. On the decimal visual acuity scale, severe reduction is defined as less than 0.1 but at least 0.05.


name: E2F5_HUMAN Transcription factor E2F5 (sprot)

description: A transcription factor E2F5 that is encoded in the genome of human.


PANX3_HUMAN Pannexin-3 (sprot)

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


intermittent explosive disorder

description: A disorder characterized by recurrent episodes of serious assaultive acts or destruction of property due to a failure to resist aggressive impulses; the degree of aggression during these episodes is grossly out of proportion to any psychosocial provocation. The aggressive episodes are not etiologically linked to another mental disorder, a general medical condition, or substance use.


TSN10_HUMAN Tetraspanin-10 (sprot)

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


TSN32_HUMAN Tetraspanin-32 (sprot)

A tetraspanin-32 that is encoded in the genome of human.


Mastalgia

description: Pain in the breast.


name: MTFR1_HUMAN Mitochondrial fission regulator 1 (sprot)

description: A mitochondrial fission regulator 1 that is encoded in the genome of human.


name: PAQR2_HUMAN Adiponectin receptor protein 2 (sprot)

description: An adiponectin receptor protein 2 that is encoded in the genome of human.


name: AP4S1_HUMAN AP-4 complex subunit sigma-1 (sprot)

description: An AP-4 complex subunit sigma-1 that is encoded in the genome of human.


SCRN3_HUMAN Secernin-3 (sprot)

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


name: OSGI1_HUMAN Oxidative stress-induced growth inhibitor 1 (sprot)

description: An oxidative stress-induced growth inhibitor 1 that is encoded in the genome of human.


primary sclerosing cholangitis

description: Primary sclerosing cholangitis (PSC) is a rare, slowly progressive liver disease characterized by inflammation and destruction of the intra- and/or extra-hepatic bile ducts that lead to cholestasis, liver fibrosis, liver cirrhosis and ultimately liver failure.


name: CBPN_HUMAN Carboxypeptidase N catalytic chain (sprot)

description: A carboxypeptidase N catalytic chain that is encoded in the genome of human.


name: MAGBG_HUMAN Melanoma-associated antigen B16 (sprot)

description: A melanoma-associated antigen B16 that is encoded in the genome of human.


PCD23_HUMAN Protocadherin-23 (sprot)

A protocadherin-23 that is encoded in the genome of human.


FAT3_HUMAN Protocadherin Fat 3 (sprot)

A protocadherin Fat 3 that is encoded in the genome of human.


acetaldehyde

The aldehyde formed from acetic acid by reduction of the carboxy group. It is the most abundant carcinogen in tobacco smoke.


name: BCL9L_HUMAN B-cell CLL/lymphoma 9-like protein (sprot)

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


vulvar intraepithelial neoplasia

description: Intraepithelial neoplasia of the vulvar squamous epithelium. There is no evidence of invasion. This category includes vulvar high grade squamous intraepithelial lesion and vulvar intraepithelial neoplasia, differentiated type.


neurogenic arthropathy

description: Chronic progressive degeneration of the stress-bearing portion of a joint, with bizarre hypertrophic changes at the periphery. It is probably a complication of a variety of neurologic disorders, particularly tabes dorsalis, involving loss of sensation, which leads to relaxation of supporting structures and chronic instability of the joint. (Dorland, 27th ed)


acute myelomonocytic leukemia M4

description: An acute leukemia characterized by the proliferation of both neutrophil and monocyte precursors. (WHO, 2001)


name: BTF3_HUMAN Transcription factor BTF3 (sprot)

description: A transcription factor BTF3 that is encoded in the genome of human.


name: CAPS1_HUMAN Calcium-dependent secretion activator 1 (sprot)

description: A calcium-dependent secretion activator 1 that is encoded in the genome of human.


name: EPHA5_HUMAN Ephrin type-A receptor 5 (sprot)

description: An ephrin type-A receptor 5 that is encoded in the genome of human.


sodium lactate

An organic sodium salt having lactate as the counterion.


acute erythroid leukemia

description: An acute myeloid leukemia characterized by a predominant immature erythroid population. There are two subtypes recognized: erythroleukemia and pure erythroid leukemia. (WHO, 2001)


CD151_HUMAN CD151 antigen (sprot)

A CD151 molecule that is encoded in the genome of human.


name: Abnormal cerebral white matter morphology

description: An abnormality of the cerebral white matter.


name: IL2RG_HUMAN Cytokine receptor common subunit gamma (sprot)

description: A cytokine receptor common subunit gamma that is encoded in the genome of human.


squamous cell breast carcinoma

description: A rare carcinoma that arises from the breast parenchyma and is entirely composed of squamous cells.


name: SP20H_HUMAN Transcription factor SPT20 homolog (sprot)

description: A transcription factor SPT20 that is encoded in the genome of human.


name: MGT4A_HUMAN Alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase A (sprot)

description: An alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase A that is encoded in the genome of human.


diffuse cutaneous systemic sclerosis

description: Diffuse cutaneous systemic sclerosis (dcSSc) is a subtype of Systemic Sclerosis (SSc) characterized by truncal and acral skin fibrosis with an early and significant incidence of diffuse involvement (interstitial lung disease, oliguric renal failure, diffuse gastrointestinal disease, and myocardial involvement).


RADI_HUMAN Radixin (sprot)

A radixin that is encoded in the genome of human.


name: EIF3B_HUMAN Eukaryotic translation initiation factor 3 subunit B (sprot)

description: A eukaryotic translation initiation factor 3 subunit B that is encoded in the genome of human.


name: NDUS7_HUMAN NADH dehydrogenase [ubiquinone] iron-sulfur protein 7, mitochondrial (sprot)

description: An NADH dehydrogenase [ubiquinone] iron-sulfur protein 7, mitochondrial that is encoded in the genome of human.


diphenidol

A tertiary alcohol that is butan-1-ol substituted by two phenyl groups at position 1 and a piperidin-1-yl group at position 4.


name: SIGIR_HUMAN Single Ig IL-1-related receptor (sprot)

description: A single Ig IL-1-related receptor that is encoded in the genome of human.


name: B3GA3_HUMAN Galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 3 (sprot)

description: A galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 3 that is encoded in the genome of human.


paroxysmal dyskinesia

description: Paroxysmal dyskinesia (PD) is a rare heterogenous group of movement disorders manifesting as abnormal involuntary movements that recur episodically and last only a brief time. PD includes paroxysmal kinesigenic dyskinesia (PKD), paroxysmal non-kinesigenic dyskinesia (PNKD), paroxysmal exertion-induced dyskinesia (PED) and a variant form of PKD, infantile convulsion and choreoathetosis (ICCA syndrome).


name: DBLOH_HUMAN Diablo IAP-binding mitochondrial protein (sprot)

description: A diablo IAP-binding mitochondrial protein that is encoded in the genome of human.


name: ASM3A_HUMAN Cyclic GMP-AMP phosphodiesterase SMPDL3A (sprot)

description: An acid sphingomyelinase-like phosphodiesterase 3a that is encoded in the genome of human.


HBS1L_HUMAN HBS1-like protein (sprot)

An HBS1-like protein that is encoded in the genome of human.


Machado-Joseph disease

description: Spinocerebellar ataxia type 3 (SCA3), also known as Machado-Joseph disease, is the most common subtype of type 1 autosomal dominant cerebellar ataxia (ADCA type 1), a neurodegenerative disorder, and is characterized by ataxia, external progressive ophthalmoplegia, and other neurological manifestations.


name: FUBP2_HUMAN Far upstream element-binding protein 2 (sprot)

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


name: RS26_HUMAN Small ribosomal subunit protein eS26 (sprot)

description: A small ribosomal subunit protein eS26 that is encoded in the genome of human.


Timothy syndrome

description: Timothy syndrome is a multi-system disorder characterized by cardiac, hand, facial and neurodevelopmental features that include QT prolongation, webbed fingers and toes, flattened nasal bridge, low-set ears, small upper jaw, thin upper lip, and characteristic features of autism or autistic spectrum disorders.


hexamidine

A polyether that is the bis(4-guanidinophenyl) ether of hexane-1,6-diol.


SEM7A_HUMAN Semaphorin-7A (sprot)

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


name: FFAR2_HUMAN Free fatty acid receptor 2 (sprot)

description: A free fatty acid receptor 2 that is encoded in the genome of human.


Chronic pain

description: Persistent pain, usually defined as pain that has lasted longer than 3 to 6 months.


CLD12_HUMAN Claudin-12 (sprot)

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


ELAV1_HUMAN ELAV-like protein 1 (sprot)

An ELAV-like protein 1 that is encoded in the genome of human.


name: MTMR3_HUMAN Myotubularin-related protein 3 (sprot)

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


name: ZNHI2_HUMAN Zinc finger HIT domain-containing protein 2 (sprot)

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


name: THRSP_HUMAN Thyroid hormone-inducible hepatic protein (sprot)

description: A thyroid hormone-inducible hepatic protein that is encoded in the genome of human.


TYB10_HUMAN Thymosin beta-10 (sprot)

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


enrofloxacin

A quinolinemonocarboxylic acid that is 1,4-dihydroquinoline-3-carboxylic acid substituted by an oxo group at position 4, a fluoro group at position 6, a cyclopropyl group at position 1 and a 4-ethylpiperazin-1-yl group at position 7. It is a veterinary antibacterial agent used for the treatment of pets.


name: MTU1_HUMAN Mitochondrial tRNA-specific 2-thiouridylase 1 (sprot)

description: A mitochondrial tRNA-specific 2-thiouridylase 1 that is encoded in the genome of human.


BGAL_HUMAN Beta-galactosidase (sprot)

A eukaryotic-type beta-galactosidase that is encoded in the genome of human.


Mesangial proliferative lupus nephritis

description: A subclass of lupus nephritis with purely mesangial hypercellularity of any degree or mesangial matrix expansion by lightmicroscopy, with mesangial immune deposits. A few isolated subepithelial or subendothelial deposits may be visible by immunoflourescence or electron microscopy, but not by light microscopy.


name: SCN1A_HUMAN Sodium channel protein type 1 subunit alpha (sprot)

description: A sodium channel protein type 1 subunit alpha that is encoded in the genome of human.


CIS-UROCANIC ACID

A urocanic acid in which the double bond of the carboxyethene moiety has Z configuration.


acute megakaryoblastic leukemia

description: Acute megakaryoblastic leukemia (AMKL) is a form of acute myeloid leukemia (AML) that occurs predominantly in childhood and particularly in children with Down syndrome (DS-AMKL). Nonspecific symptoms may be irritability, weakness, and dizziness while specific symptoms include pallor, fever, mucocutaneous bleeding, hepatosplenomegaly, neurological manifestations and rarely lymphadenopathy. Acute panmyelosis with myelofibrosis may also be associated with AMKL. In contrast to DS-AMKL (around 80 % survival), non-DS-AMKL is an AML subgroup associated with poor prognosis.


thrombophilia

description: A condition characterized by an abnormally high level of thrombi. Causes include thrombotic thrombocytopenic purpura, disseminated intravascular coagulation, bone marrow disorders, and antiphospholipid antibody syndrome.


name: ECHM_HUMAN Enoyl-CoA hydratase, mitochondrial (sprot)

description: An enoyl-CoA hydratase, mitochondrial that is encoded in the genome of human.


name: IKZF3_HUMAN Zinc finger protein Aiolos (sprot)

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


name: COE2_HUMAN Transcription factor COE2 (sprot)

description: A transcription factor COE2 that is encoded in the genome of human.