name: BLID_HUMAN BH3-like motif-containing cell death inducer (sprot)

description: A BH3-like motif-containing cell death inducer that is encoded in the genome of human.


ESMOLOL HYDROCHLORIDE

The hydrochloride salt of esmolol.  A cardioselective and short-acting beta1 receptor blocker with rapid onset but lacking intrinsic sympathomimetic and membrane-stabilising properties, it is used in the management of supraventricular arrhythmias, and for the control of hypertension and tachycardia during surgery.


lactic acidosis

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

description: Metabolic acidosis characterized by the accumulation of lactate in the body. It is caused by tissue hypoxia.


name: JADE2_HUMAN E3 ubiquitin-protein ligase Jade-2 (sprot)

description: An E3 ubiquitin-protein ligase Jade-2 that is encoded in the genome of human.


phosphatidylcholine (20:3/20:4)

A phosphatidylcholine 40:7 in which the fatty acyl groups at positions 1 and 2 are specified as C20:3 and C20:4 respectively.


aceglutamide

An N(2)-acetylglutamine that has L-configuration.


ryanodine

An insecticide alkaloid isolated from South American plant Ryania speciosa.


name: EFL1_HUMAN Elongation factor-like GTPase 1 (sprot)

description: An elongation factor-like GTPase 1 that is encoded in the genome of human.


name: USF2_HUMAN Upstream stimulatory factor 2 (sprot)

description: An upstream stimulatory factor 2 that is encoded in the genome of human.


name: RAB4A_HUMAN Ras-related protein Rab-4A (sprot)

description: A Ras-related protein Rab-4A that is encoded in the genome of human.


name: DSCR8_HUMAN Down syndrome critical region protein 8 (sprot)

description: A Down syndrome critical region protein 8 that is encoded in the genome of human.


FZD7_HUMAN Frizzled-7 (sprot)

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


cowpox

description: A mild, eruptive skin disease of milk cows caused by cowpox virus, with lesions occurring principally on the udder and teats. Human infection may occur while milking an infected animal.


name: RIPR2_HUMAN Rho family-interacting cell polarization regulator 2 (sprot)

description: A Rho family-interacting cell polarization regulator 2 that is encoded in the genome of human.


name: ARF5_HUMAN ADP-ribosylation factor 5 (sprot)

description: An ADP-ribosylation factor 5 that is encoded in the genome of human.


DEXAMETHASONE SODIUM PHOSPHATE

An organic sodium salt which is the disodium salt of dexamethasone phosphate.


epicondylitis

description: Inflammation of the lateral epicondyle.


clofibric acid

A monocarboxylic acid that is isobutyric acid substituted at position 2 by a p-chlorophenoxy group. It is a metabolite of the drug clofibrate.


sn-glycerol 3-phosphate

An sn-glycerol 3-phosphate having unsubstituted hydroxy groups.


eltanexor

A member of the class of triazoles that is 1H-1,2,4-triazole substituted by (1E)-3-amino-3-oxo-2-(pyrimidin-5-yl)prop-1-en-1-yl and 3,5-bis(trifluoromethyl)phenyl groups at positions 1 and 3, respectively. It is a second-generation exportin 1 inhibitor that is currently in phase II clinical trial for the treatment of patients with higher relapsed/refractory myelodysplastic neoplasms.


name: TAAR3_HUMAN Putative trace amine-associated receptor 3 (sprot)

description: A putative trace amine-associated receptor 3 that is encoded in the genome of human.


name: CNTFR_HUMAN Ciliary neurotrophic factor receptor subunit alpha (sprot)

description: A ciliary neurotrophic factor receptor subunit alpha that is encoded in the genome of human.


name: DUS14_HUMAN Dual specificity protein phosphatase 14 (sprot)

description: A dual specificity protein phosphatase 14 that is encoded in the genome of human.


non-human animal disease

description: A disease that occurs in animals.


female genital tuberculosis

description: Mycobacterium infections of the female reproductive tract (genitalia, female).


Villous atrophy

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

description: The enteric villi are atrophic or absent.


Cellular immunodeficiency

description: An immunodeficiency characterized by defective cell-mediated immunity or humoral immunity.


sugammadex

An octasaccharide derivative that is gamma-cyclodextrin in which all eight primary hydroxy groups are replaced by 2-(carboxyethyl)sulfanyl groups. Used (as the octasodium salt) for reversal of neuromuscular blockade induced by rocuronium and vecuronium in adults undergoing surgery.


name: I17RC_HUMAN Interleukin-17 receptor C (sprot)

description: An interleukin-17 receptor C that is encoded in the genome of human.


ADDA_HUMAN Alpha-adducin (sprot)

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


KETAMINE HYDROCHLORIDE

The hydrochloride salt of ketamine.


name: KIF2C_HUMAN Kinesin-like protein KIF2C (sprot)

description: A kinesin-like protein KIF2C that is encoded in the genome of human.


name: KIF3B_HUMAN Kinesin-like protein KIF3B (sprot)

description: A kinesin-like protein KIF3B that is encoded in the genome of human.


KID syndrome

description: Keratitis (and hystrix-like) ichthyosis deafness (KID/HID) syndrome is a rare congenital ectodermal disorder characterized by vascularizing keratitis, hyperkeratotic skin lesions and hearing loss.


name: GFPT1_HUMAN Glutamine--fructose-6-phosphate aminotransferase [isomerizing] 1 (sprot)

description: A glutamine--fructose-6-phosphate aminotransferase [isomerizing] 1 that is encoded in the genome of human.


name: SAC1_HUMAN Phosphatidylinositol-3-phosphatase SAC1 (sprot)

description: A phosphatidylinositol-3-phosphatase SAC1 that is encoded in the genome of human.


name: SPTC1_HUMAN Serine palmitoyltransferase 1 (sprot)

description: A serine palmitoyltransferase 1 that is encoded in the genome of human.


An organofluorine compound that is uridine bearing a fluoro substituent at position 5 on the uracil ring.


name: GCNT1_HUMAN Beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase (sprot)

description: A beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase that is encoded in the genome of human.


name: DRAM1_HUMAN DNA damage-regulated autophagy modulator protein 1 (sprot)

description: A damage-regulated autophagy modulator that is encoded in the genome of human.


CYCLOPROPANE

A cycloalkane composed of three carbon atoms to form a ring.


name: ASCL5_HUMAN Achaete-scute homolog 5 (sprot)

description: An achaete-scute homolog 5 that is encoded in the genome of human.


name: NPSR1_HUMAN Neuropeptide S receptor (sprot)

description: A neuropeptide S receptor that is encoded in the genome of human.


nalidixic acid

A monocarboxylic acid comprising 1,8-naphthyridin-4-one substituted by carboxylic acid, ethyl and methyl groups at positions 3, 1, and 7, respectively. An orally administered antibacterial, it is used in the treatment of lower urinary-tract infections due to Gram-negative bacteria, including the majority of E. coli, Enterobacter, Klebsiella, and Proteus species.


name: ARPC3_HUMAN Actin-related protein 2/3 complex subunit 3 (sprot)

description: An actin-related protein 2/3 complex subunit 3 that is encoded in the genome of human.


rectum adenocarcinoma

description: An adenocarcinoma arising from the rectum. It is more frequently seen in populations with a Western type diet and in patients with a history of chronic inflammatory bowel disease. Signs and symptoms include intestinal bleeding, anemia, and change in bowel habits. According to the degree of cellular differentiation, rectal adenocarcinomas are divided into well, moderately, and poorly differentiated. Histologic variants include mucinous adenocarcinoma, signet ring cell carcinoma, medullary carcinoma, serrated adenocarcinoma, cribriform comedo-type adenocarcinoma, and micropapillary adenocarcinoma.


name: ZFP42_HUMAN Zinc finger protein 42 homolog (sprot)

description: A zinc finger protein 42 that is encoded in the genome of human.


Scott syndrome

description: Scott syndrome is an extremely rare congenital hemorrhagic disorder characterized by hemorrhagic episodes due to impaired platelet coagulant activity.


Budd-Chiari syndrome

description: Budd-Chiari syndrome (BCS) is caused by obstruction of hepatic venous outflow involving either the hepatic veins or the terminal segment of the inferior vena cava.


name: PAXB1_HUMAN PAX3- and PAX7-binding protein 1 (sprot)

description: A PAX3- and PAX7-binding protein 1 that is encoded in the genome of human.


name: PTCA_HUMAN Protein tyrosine phosphatase receptor type C-associated protein (sprot)

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


L-proline betaine

An amino acid betaine that is L-proline zwitterion in which both of the hydrogens attached to the nitrogen are replaced by methyl groups.


primary antiphospholipid syndrome

description: An antiphospholipid syndrome that occurs as an isolated disorder.


phosphatidylcholine (16:0/16:1)

A phosphatidylcholine 32:1 in which the fatty acyl groups at positions 1 and 2 are specified as C16:0 and C16:1 respectively.


name: PM2P2_HUMAN Putative postmeiotic segregation increased 2-like protein 2 (sprot)

description: A putative postmeiotic segregation increased 2-like protein 2 that is encoded in the genome of human.


HYEP_HUMAN Epoxide hydrolase 1 (sprot)

An epoxide hydrolase 1 that is encoded in the genome of human.


hyperreflexia

description: An abnormal response to a stimulus applied to the sensory components of the nervous system. This may take the form of increased, decreased, or absent reflexes.


name: HMHA1_HUMAN Rho GTPase-activating protein 45 (sprot)

description: A Rho GTPase-activating protein 45 that is encoded in the genome of human.


1,3-Benzothiazole substituted at the 2-position with a sulfanyl group.


stanozolol

An organic heteropentacyclic compound resulting from the formal condensation of the 3-keto-aldehyde moiety of oxymetholone with hydrazine. Like oxymetholone, it is a synthetic anabolic steroid. It has both anabolic and androgenic properties, and has been used to treat hereditary angioedema and various vascular disorders. It has also been widely abused by professional athletes.


acquired angioedema

description: Acquired angioedema (AAE) is characterized by the occurrence of transitory and recurrent subcutaneous and/or submucosal edemas resulting in swelling and/or abdominal pain due to an acquired C1 inhibitor (C1-INH) deficiency.


name: GLIP1_HUMAN Glioma pathogenesis-related protein 1 (sprot)

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


name: PDIP2_HUMAN Polymerase delta-interacting protein 2 (sprot)

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


brain glioma

description: A malignant glioma that involves the brain.


name: AFF3_HUMAN AF4/FMR2 family member 3 (sprot)

description: An AF4/FMR2 family member 3 that is encoded in the genome of human.


name: IGBP1_HUMAN Immunoglobulin-binding protein 1 (sprot)

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


name: GLRX2_HUMAN Glutaredoxin-2, mitochondrial (sprot)

description: A glutaredoxin-2, mitochondrial that is encoded in the genome of human.


name: H2A1B_HUMAN Histone H2A type 1-B/E (sprot)

description: A histone H2A type 1-B/E that is encoded in the genome of human.


hyper-IgE syndrome

description: A condition that is characterized by elevated serum IgE, dermatitis, and respiratory infections.


name: RGPD2_HUMAN RANBP2-like and GRIP domain-containing protein 2 (sprot)

description: A RANBP2-like and GRIP domain-containing protein 2 that is encoded in the genome of human.


name: RS19_HUMAN Small ribosomal subunit protein eS19 (sprot)

description: A small ribosomal subunit protein eS19 that is encoded in the genome of human.


name: RL19_HUMAN Large ribosomal subunit protein eL19 (sprot)

description: A large ribosomal subunit protein eL19 that is encoded in the genome of human.


name: CP2AD_HUMAN Cytochrome P450 2A13 (sprot)

description: A cytochrome P450 2A that is a translation product of the CYP2A13 gene in human.


name: OSBL5_HUMAN Oxysterol-binding protein-related protein 5 (sprot)

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


phosphatidylcholine (20:4/22:1)

A phosphatidylcholine 42:5 in which the fatty acyl groups at positions 1 and 2 are specified as C20:4 and C22:1 respectively.


name: CY1_HUMAN Cytochrome c1, heme protein, mitochondrial (sprot)

description: A cytochrome c1, heme protein, mitochondrial that is encoded in the genome of human.


name: CP131_HUMAN Centrosomal protein of 131 kDa (sprot)

description: A centrosomal protein of 131 kDa that is encoded in the genome of human.


name: AZIN2_HUMAN Antizyme inhibitor 2 (sprot)

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


OC90_HUMAN Otoconin-90 (sprot)

An otoconin-90 that is encoded in the genome of human.


name: C4BPA_HUMAN C4b-binding protein alpha chain (sprot)

description: A C4b-binding protein alpha chain that is encoded in the genome of human.


amelanotic melanoma

description: A melanoma characterized by the complete absence of melanin pigment in the melanoma cells. It occurs more frequently on the face and it is often associated with desmoplastic reaction.


salivary gland cancer

description: A primary or metastatic malignant neoplasm that affects the major or minor salivary glands. Representative examples include carcinoma, lymphoma, and sarcoma.


name: SRSF4_HUMAN Serine/arginine-rich splicing factor 4 (sprot)

description: A serine/arginine-rich splicing factor 4 that is encoded in the genome of human.


name: SUGP1_HUMAN SURP and G-patch domain-containing protein 1 (sprot)

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


name: 5HT1E_HUMAN 5-hydroxytryptamine receptor 1E (sprot)

description: A 5-hydroxytryptamine receptor 1E that is encoded in the genome of human.


name: RPC4_HUMAN DNA-directed RNA polymerase III subunit RPC4 (sprot)

description: A DNA-directed RNA polymerase III subunit RPC4 that is encoded in the genome of human.


name: PTPRH_HUMAN Receptor-type tyrosine-protein phosphatase H (sprot)

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


name: TSHB_HUMAN Thyrotropin subunit beta (sprot)

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


name: MIS_HUMAN Muellerian-inhibiting factor (sprot)

description: A Muellerian-inhibiting factor that is encoded in the genome of human.


CD109_HUMAN CD109 antigen (sprot)

A CD109 molecule that is encoded in the genome of human.


name: CNGB1_HUMAN Cyclic nucleotide-gated channel beta-1 (sprot)

description: A cyclic nucleotide-gated cation channel beta-1 that is encoded in the genome of human.


Neurite dystrophy

description: Dystrophic neurites are abnormal neuronal processes characterized microscopically by aberrant sprouting, dystrophic expansion, and accumulation of various cellular organelles and cytoskeletal/signaling proteins.


name: CNOT2_HUMAN CCR4-NOT transcription complex subunit 2 (sprot)

description: A CCR4-NOT transcription complex subunit 2 that is encoded in the genome of human.


hyperaldosteronism

description: Overproduction of aldosterone by the adrenal glands, which may lead to hypokalemia and/or hypernatremia.


name: I18BP_HUMAN Interleukin-18-binding protein (sprot)

description: An interleukin-18-binding protein that is encoded in the genome of human.


name: SENP6_HUMAN Sentrin-specific protease 6 (sprot)

description: A sentrin-specific protease 6 that is encoded in the genome of human.


name: BCKD_HUMAN Branched-chain alpha-ketoacid dehydrogenase kinase (sprot)

description: A branched-chain alpha-ketoacid dehydrogenase kinase that is encoded in the genome of human.


brain glioblastoma

description: A WHO grade IV malignant astrocytic tumor that arises from the brain, usually the cerebral hemispheres. It is characterized by the presence of poorly differentiated astrocytes, cellular polymorphism, nuclear atypia, and increased mitotic activity. The prognosis is poor.


name: FIBB_HUMAN Fibrinogen beta chain (sprot)

description: A fibrinogen beta chain that is encoded in the genome of human.


brazilein

A organic heterotetracyclic compound that is a red pigment obtained from the wood of Caesalpinia echinata (Brazil-wood) or Caesalpinia sappan (sappan-wood).


name: NUCG_HUMAN Endonuclease G, mitochondrial (sprot)

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


S10AE_HUMAN Protein S100-A14 (sprot)

A protein S100-A14 that is encoded in the genome of human.


name: NRIP1_HUMAN Nuclear receptor-interacting protein 1 (sprot)

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


name: ERF_HUMAN ETS domain-containing transcription factor ERF (sprot)

description: An ETS domain-containing transcription factor ERF that is encoded in the genome of human.


METRN_HUMAN Meteorin (sprot)

A meteorin that is encoded in the genome of human.


name: BMP1_HUMAN Bone morphogenetic protein 1 (sprot)

description: A bone morphogenetic protein 1 that is encoded in the genome of human.


keto-D-fructose 6-phosphate

The open chain form of D-fructose 6-phosphate.


Sorsby fundus dystrophy

description: A rare progressive autosomal dominant macular dystrophy, presenting between the third and sixth decades of life, characterized by retinal atrophy and retinal detachment and leading to loss of central vision, then peripheral vision, and eventually blindness.


INDOLE-3-BUTYRIC ACID

A indol-3-yl carboxylic acid that is butanoic acid carrying a 1H-indol-3-yl substituent at position 1.


name: DOXA1_HUMAN Dual oxidase maturation factor 1 (sprot)

description: A dual oxidase maturation factor 1 that is encoded in the genome of human.


name: THSD4_HUMAN Thrombospondin type-1 domain-containing protein 4 (sprot)

description: A thrombospondin type-1 domain-containing protein 4 that is encoded in the genome of human.


SLAP1_HUMAN Src-like-adapter (sprot)

A Src-like-adapter that is encoded in the genome of human.


name: CNRP1_HUMAN CB1 cannabinoid receptor-interacting protein 1 (sprot)

description: A CB1 cannabinoid receptor-interacting protein 1 that is encoded in the genome of human.


ferrocene

A bis(eta(5)-cyclopentadienyl)metal(II) having Fe(II) as the metal(II) species. The parent of the class of ferrocenes.


name: NHP2_HUMAN H/ACA ribonucleoprotein complex subunit 2 (sprot)

description: An H/ACA ribonucleoprotein complex subunit 2 that is encoded in the genome of human.


Brooke-Spiegler syndrome

description: Brooke-Spiegler syndrome (BSS) is an inherited predisposition syndrome presenting with skin appendage tumors, namely cylindromas, spiradenomas and trichoepitheliomas. A minority of patients can also get major and minor salivary glands neoplasms, usually membranous basal cell adenoma.


ENHO_HUMAN Adropin (sprot)

An adropin that is encoded in the genome of human.


GRAB_HUMAN Granzyme B (sprot)

A granzyme B that is encoded in the genome of human.


name: TPST1_HUMAN Protein-tyrosine sulfotransferase 1 (sprot)

description: A protein-tyrosine sulfotransferase 1 that is encoded in the genome of human.


name: DOHH_HUMAN Deoxyhypusine hydroxylase (sprot)

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


acetoacetyl CoA

A 3-oxoacyl-CoA that results from the formal condensation of the thiol group of coenzyme A with the carboxy group of acetoacetic acid.


name: MEIS2_HUMAN Homeobox protein Meis2 (sprot)

description: A homeobox protein Meis2 that is encoded in the genome of human.


name: MN1_HUMAN Transcriptional activator MN1 (sprot)

description: A transcriptional activator MN1 that is encoded in the genome of human.


name: CEA21_HUMAN Carcinoembryonic antigen-related cell adhesion molecule 21 (sprot)

description: A carcinoembryonic antigen-related cell adhesion molecule 21 that is encoded in the genome of human.


name: ECH1_HUMAN Delta(3,5)-Delta(2,4)-dienoyl-CoA isomerase, mitochondrial (sprot)

description: A Delta(3,5)-Delta(2,4)-dienoyl-CoA isomerase, mitochondrial that is encoded in the genome of human.


BETAMETHASONE SODIUM PHOSPHATE

An organic sodium salt that is the disodium salt of betamethasone phosphate.


LEG8_HUMAN Galectin-8 (sprot)

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


name: SMRCD_HUMAN SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A containing DEAD/H box 1 (sprot)

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


fluvastatin sodium

A racemate that is the sodium salt of fluvastatin. An HMG-CoA reductase inhibitor, it is used to reduce triglycerides and LDL-cholesterol, and increase HDL-chloesterol, in the treatment of hyperlipidaemia.


name: Vasoactive intestinal octacosapeptide (pig)


name: KCNK6_HUMAN Potassium channel subfamily K member 6 (sprot)

description: A potassium channel subfamily K member 6 that is encoded in the genome of human.


name: TTC4_HUMAN Tetratricopeptide repeat protein 4 (sprot)

description: A tetratricopeptide repeat protein 4 that is encoded in the genome of human.


poziotinib

A member of the class of quinazolines that is quinazoline substituted by (3,4-dichloro-2-fluorophenyl)amino, [1-(prop-2-enoyl)piperidin-4-yl]oxy, and methoxy groups at positions 4, 6, and 7, respectively. It is a potent and irreversible tyrosine kinase inhibitor targeting EGFR and HER2 with exon 20 insertion mutations.


granulomatous hepatitis

description: Hepatitis that is characterized by the presence of granulomas.


L-ascorbic acid 2-phosphate

An aldonolactone phosphate that is the 2-phosphate ester of L-ascorbic acid. It can stimulate collagen formation.


Reticulocytopenia

description: A reduced number of reticulocytes in the peripheral blood.


perfluorobutanesulfonic acid

A perfluoroalkanesulfonic acid that is butane-1-sulfonic acid in which all of the hydrogens of the butyl group have been replaced by fluorines.


name: SAMN1_HUMAN SAM domain-containing protein SAMSN-1 (sprot)

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


hypertrophic cardiomyopathy 4

description: An autosomal dominant condition caused by mutation(s) in the MYBPC3 gene, encoding MYBPC3 protein. It is characterized by severe neonatal hypertrophic cardiomyopathy.


impulse control disorder

description: A category of behaviors that can be loosely defined as the failure to resist an impulsive act or behavior that may be harmful to self or others.


arbutin

A monosaccharide derivative that is  hydroquinone attached to a beta-D-glucopyranosyl residue at position 4 via a glycosidic linkage.


name: GORAB_HUMAN RAB6-interacting golgin (sprot)

description: A RAB6-interacting golgin that is encoded in the genome of human.


MYOZ3_HUMAN Myozenin-3 (sprot)

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


name: EHMT2_HUMAN Histone-lysine N-methyltransferase EHMT2 (sprot)

description: A histone-lysine N-methyltransferase, H3 lysine-9 specific 3 that is encoded in the genome of human.


3-methylglutaric acid

An alpha,omega-dicarboxylic acid that is glutaric acid substituted at position 3 by a methyl group.


diiodohydroxyquinoline

A monohydroxyquinoline that is quinolin-8-ol in which the hydrogens at positions 5 and 7 are replaced by iodine.  It is considered the drug of choice for treating asymptomatic or moderate forms of amoebiasis.


name: LHX8_HUMAN LIM/homeobox protein Lhx8 (sprot)

description: A LIM/homeobox protein Lhx8 that is encoded in the genome of human.


name: NUP62_HUMAN Nuclear pore glycoprotein p62 (sprot)

description: A nuclear pore glycoprotein p62 that is encoded in the genome of human.


name: NUP50_HUMAN Nuclear pore complex protein Nup50 (sprot)

description: A nuclear pore complex protein Nup50 that is encoded in the genome of human.


name: OX2G_HUMAN OX-2 membrane glycoprotein (sprot)

description: An OX-2 membrane glycoprotein that is encoded in the genome of human.


hereditary breast carcinoma

description: Breast carcinoma that has developed in relatives of patients with history of breast carcinoma.


latamoxef

A broad-spectrum oxacephem antibiotic in which the oxazine ring is substituted with a tetrazolylthiomethyl group and the azetidinone ring carries methoxy and 2-carboxy-2-(4-hydroxyphenyl)acetamido substituents.


familial nephrotic syndrome

description: An instance of nephrotic syndrome that is caused by an inherited modification of the individual's genome.


KSHV inflammatory cytokine syndrome

description: A syndrome caused by Kaposi sarcoma-associated herpesvirus (KSHV) infection. It manifests with fever, weight loss, and fluid retention in the legs or abdomen. Patients are at risk of developing KSHV-related cancers including Kaposi sarcoma and lymphoma.


name: HTF4_HUMAN Transcription factor 12 (sprot)

description: A transcription factor 12 that is encoded in the genome of human.


(+)-SECOISOLARICIRESINOL

An enantiomer of secoisolariciresinol having (-)-(2R,3R)-configuration.


name: CTDSL_HUMAN CTD small phosphatase-like protein (sprot)

description: A CTD small phosphatase-like protein that is encoded in the genome of human.


name: CCD39_HUMAN Coiled-coil domain-containing protein 39 (sprot)

description: A coiled-coil domain-containing protein 39 that is encoded in the genome of human.


name: GNAI2_HUMAN Guanine nucleotide-binding protein G(i) subunit alpha-2 (sprot)

description: A guanine nucleotide-binding protein G(i) subunit alpha-2 that is encoded in the genome of human.


NMU_HUMAN Neuromedin-U (sprot)

A neuromedin-U that is encoded in the genome of human.


name: AGAP2_HUMAN Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 2 (sprot)

description: An Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 2 that is encoded in the genome of human.


DACT1_HUMAN Dapper homolog 1 (sprot)

A dapper homolog 1 that is encoded in the genome of human.


B-cell adult acute lymphocytic leukemia

description: An acute B-lymphoblastic leukemia occurring in adults.


shoulder impingement syndrome

description: Compression of the rotator cuff tendons and subacromial bursa between the humeral head and structures that make up the coracoacromial arch and the humeral tuberosities. This condition is associated with subacromial bursitis and rotator cuff (largely supraspinatus) and bicipital tendon inflammation, with or without degenerative changes in the tendon. Pain that is most severe when the arm is abducted in an arc between 40 and 120 degrees, sometimes associated with tears in the rotator cuff, is the chief symptom. (From Jablonski's Dictionary of Syndromes and Eponymic Diseases, 2d ed)


name: PP13_HUMAN Galactoside-binding soluble lectin 13 (sprot)

description: A galactoside-binding soluble lectin 13 that is encoded in the genome of human.


acute lung injury

description: A condition of lung damage that is characterized by bilateral pulmonary infiltrates (pulmonary edema) rich in neutrophils, and in the absence of clinical heart failure. This can represent a spectrum of pulmonary lesions, endothelial and epithelial, due to numerous factors (physical, chemical, or biological).


MEDRONIC ACID

A 1,1-bis(phosphonic acid) consisting of methane substituted by two phosphonic acid groups.


name: CARD8_HUMAN Caspase recruitment domain-containing protein 8 (sprot)

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


name: COPZ1_HUMAN Coatomer subunit zeta-1 (sprot)

description: A coatomer subunit zeta-1 that is encoded in the genome of human.


name: PPM1B_HUMAN Protein phosphatase 1B (sprot)

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


FBX2_HUMAN F-box only protein 2 (sprot)

An F-box only protein 2 that is encoded in the genome of human.


name: CHIC2_HUMAN Cysteine-rich hydrophobic domain-containing protein 2 (sprot)

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


foot and mouth disease

description: A viral infectious disease that results in infection in cattle and swine, has material basis in foot-and-mouth disease virus, which is transmitted by contaminated fomites, or transmitted by ingestion of food contaminated with infected meat or animal products. The infection results in formation of vesicles in the mouth, or on the feet and has symptom lameness.


dopaminergic neuroblastoma

description: A neuroblastoma associated with increased dopamine excretion.


name: EHD1_HUMAN EH domain-containing protein 1 (sprot)

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


name: SC5A7_HUMAN High affinity choline transporter 1 (sprot)

description: A high affinity choline transporter 1 that is encoded in the genome of human.


name: LAT4_HUMAN Large neutral amino acids transporter small subunit 4 (sprot)

description: A large neutral amino acids transporter small subunit 4 that is encoded in the genome of human.


name: SDE2_HUMAN Splicing regulator SDE2 (sprot)

description: A protein SDE2 homolog that is encoded in the genome of human.


name: PPM1F_HUMAN Protein phosphatase 1F (sprot)

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


name: DNJC5_HUMAN DnaJ homolog subfamily C member 5 (sprot)

description: A DnaJ homolog subfamily C member 5 that is encoded in the genome of human.


Creutzfeldt Jacob disease

description: A rare transmittable degenerative disorder of the brain caused by prions. Morphologically it is characterized by spongiform degeneration of the cerebral and cerebellar cortex. Signs and symptoms include sleep disturbances, personality changes, aphasia, ataxia, muscle atrophy and weakness, visual loss, and myoclonus. It usually leads to death within a year from the onset of the disease.


ichthyosis

description: Disorders of cornification that are characterized by visible scaling and/or hyperkeratosis of most or all of the skin. Inherited ichthyoses, defined as the generalized form of Mendelian disorders of cornification, affect most or all of the skin. This etiologically and phenotypically heterogenous group of conditions is caused by mutations in various different genes important for keratinocyte differentiation and epidermal barrier function. Acquired forms of ichthyosis can be observed with certain autoimmune, inflammatory, metabolic, endocrine, or infectious diseases or with malignancies.


autoimmune thrombocytopenic purpura

description: An autoimmune disorder in which the number of circulating platelets is reduced due to their antibody-mediated destruction. ITP is a diagnosis of exclusion and is heterogeneous in origin.


name: RHG42_HUMAN Rho GTPase-activating protein 42 (sprot)

description: A Rho GTPase-activating protein 42 that is encoded in the genome of human.


paraoxon

An aryl dialkyl phosphate where both the alkyl groups are ethyl and the aryl group is 4-nitrophenyl.


eptifibatide

A synthetic homodetic cyclic peptide comprising N(alpha)-(3-sulfanylpropanoyl)homoarginyl, glycyl, aspartyl, tryptophyl, prolyl and cysteinamide residues connected in sequence and cyclised via a disulfide bond. Derived from a protein found in the venom of the southeastern pygmy rattlesnake, Sistrurus miliarus barbouri, eptifibatide is an anti-coagulant that inhibits platelet aggregation by selectively blocking the platelet glycoprotein IIb/IIIa receptor, so preventing the binding of fibrinogen, von Willebrand factor, and other adhesive ligands. It is used in the management of unstable angina and in patients undergoing coronary angioplasty and stenting procedures.


tetrabenazine

A benzoquinolizine that is 1,2,3,4,4a,9,10,10a-octahydrophenanthrene in which the carbon at position 10a is replaced by a nitrogen and which is substituted by an isobutyl group at position 2, an oxo group at position 3, and methoxy groups at positions 6 and 7.


specific language disorder

description: A disorder characterized by impairment of verbal communication skills, often resulting from brain damage.


galactosemia

description: Galactosemia is a group of rare genetic metabolic disorders characterized by impaired galactose metabolism resulting in a range of variable manifestations encompassing a severe, life-threatening disease (classic galactosemia), a rare mild form (galactokinase deficiency) causing cataract, and a very rare form with variable severity (galactose epimerase deficiency) resembling classic galactosemia in the severe form.


Intermittent diarrhea

description: Repeated episodes of diarrhea separated by periods without diarrhea.


name: BLNK_HUMAN B-cell linker protein (sprot)

description: A B-cell linker protein that is encoded in the genome of human.


name: TNNC2_HUMAN Troponin C, skeletal muscle (sprot)

description: A troponin C, skeletal muscle that is encoded in the genome of human.


A bis(5'-adenosyl)-triphosphatase that is encoded in the genome of human.


dirithromycin

The hemi-aminal resulting from the condensation of the erythromycin derivative (9S)-erythromycyclamine with 2-(2-methoxyethoxy)acetaldehyde. As the oxazine ring containing the hemi-aminal group is unstable under both acidic and alkaline conditions, dirithromycin functions as a more lipid-soluble prodrug for (9S)-erythromycyclamine. Administered as enteric coated tablets to protect it from acid catalysed hydrolysis in the stomach, it is used to treat respiratory tract, skin, and soft tissue infections caused by susceptible organisms.


name: LEMD1_HUMAN LEM domain-containing protein 1 (sprot)

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


name: CCG4_HUMAN Voltage-dependent calcium channel gamma-4 subunit (sprot)

description: A voltage-dependent calcium channel gamma-4 subunit that is encoded in the genome of human.


duodenal atresia

description: Duodenal atresia is an embryopathy of the cranial intestine that leads to a complete absence of the duodenal lumen.


name: MX1_HUMAN Interferon-induced GTP-binding protein Mx1 (sprot)

description: An interferon-induced GTP-binding protein Mx1 that is encoded in the genome of human.


PRG4_HUMAN Proteoglycan 4 (sprot)

A proteoglycan 4 that is encoded in the genome of human.


name: GTR11_HUMAN Solute carrier family 2, facilitated glucose transporter member 11 (sprot)

description: A solute carrier family 2, facilitated glucose transporter member 11 that is encoded in the genome of human.


Fanconi anemia complementation group F

description: Fanconi anemia caused by mutations of the FANCF gene. This gene encodes a polypeptide with homology to the prokaryotic RNA-binding protein ROM.


encainide

4-Methoxy-N-phenylbenzamide in which the hydrogen at the 2 position of the phenyl group is substituted by a 2-(1-methylpiperidin-2-yl)ethyl group. A class Ic antiarrhythmic, the hydrochloride was used for the treatment of severe or life-threatening ventricular arrhythmias, but it was associated with increased death rates in patients who had asymptomatic heart rhythm abnormalities after a recent heart attack and was withdrawn from the market.


coenzyme Q10 deficiency

description: A genetically heterogeneous condition, typically inherited in an autosomal recessive fashion, characterized by coenzyme Q10 deficiency.


canine soft tissue sarcoma

description: Soft tissue sarcoma occurring in a dog.


Abnormal cornea morphology

description: Any abnormality of the cornea, which is the transparent tissue at the front of the eye that covers the iris, pupil, and anterior chamber.


Sertoli cell-only syndrome

description: Sertoli cell-only syndrome (SCO syndrome) is a cause of male infertility. In SCO syndrome, only Sertoli cells (cells that nurture the immature sperm) line the seminiferous tubules (tubes inside the testicles where sperm develop). Therefore, there are not any sperm cells present in the seminiferous tubules. Men typically learn they are affected between ages 20-40 years when being evaluated for infertility and are found to have no sperm production (azoospermia). Other signs and symptoms are rare, but in some cases there could be an underlying cause of SCO syndrome that causes other symptoms, such as Klinefelter syndrome. Most cases of SCO syndrome are idiopathic (of unknown cause), but causes may include deletions of genetic information on regions of the Y-chromosome, especially on the azoospermia factor (AZF) region of Y-chromosome. Other causes include exposure to chemicals or toxins, history of radiation therapy, and history of severe trauma. Diagnosis of SCO syndrome is confirmed with testicular biopsy. Although there is currently no effective treatment, assisted reproductive technology may assist some men with SCO syndrome in being able to have children.


name: MFAP5_HUMAN Microfibrillar-associated protein 5 (sprot)

description: A microfibrillar-associated protein 5 that is encoded in the genome of human.


daprodustat

A member of the class of  barbiturates that is barbituric acid substituted by cyclohexyl groups at positions 1 and 3, and by a (carboxymethyl)aminocarbonyl group at position 5. It is an inhibitor of hypoxia-inducible factor prolyl hydroxylase developed by GlaxoSmithKline for the treatment of anaemia in patients with chronic kidney disease.


name: C11B2_HUMAN Cytochrome P450 11B2, mitochondrial (sprot)

description: A cytochrome P450 11B that is a translation product of the CYP11B2 gene in human.


name: BC11A_HUMAN B-cell lymphoma/leukemia 11A (sprot)

description: A B-cell lymphoma/leukemia 11A that is encoded in the genome of human.


PARAXANTHINE

A dimethylxanthine having the two methyl groups located at positions 1 and 7. It is a metabolite of caffeine and theobromine in animals.


CDAN1_HUMAN Codanin-1 (sprot)

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


S17A5_HUMAN Sialin (sprot)

A sialin that is encoded in the genome of human.


name: TRM1_HUMAN tRNA (guanine(26)-N(2))-dimethyltransferase (sprot)

description: An N(2),N(2)-dimethylguanosine tRNA methyltransferase that is encoded in the genome of human.


EFNA4_HUMAN Ephrin-A4 (sprot)

An ephrin-A4 that is encoded in the genome of human.


NTRI_HUMAN Neurotrimin (sprot)

A neurotrimin that is encoded in the genome of human.


classic Kaposi sarcoma

description: A vascular sarcoma that commonly occurs in the lower extremities. It occurs predominantly in elderly male patients of southern European ancestry. It is characterized by the presence of purple, red-blue, or dark brown macular lesions, plaques and nodules. This disease is usually slow growing, although it can spread to the lungs and the gastrointestinal tract. If necessary, cutaneous lesions can be treated with radiation.


peripheral nervous system disorder

description: A disease involving the peripheral nervous system.


name: TKTL1_HUMAN Transketolase-like protein 1 (sprot)

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


name: ROM1_HUMAN Rod outer segment membrane protein 1 (sprot)

description: A rod outer segment membrane protein 1 that is encoded in the genome of human.


name: NDUAA_HUMAN NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 10, mitochondrial (sprot)

description: An NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 10, mitochondrial that is encoded in the genome of human.


name: KCD20_HUMAN BTB/POZ domain-containing protein KCTD20 (sprot)

description: A BTB/POZ domain-containing protein KCTD20 that is encoded in the genome of human.


HYAL3_HUMAN Hyaluronidase-3 (sprot)

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


name: ACSA_HUMAN Acetyl-coenzyme A synthetase, cytoplasmic (sprot)

description: An acetyl-coenzyme A synthetase, cytoplasmic that is encoded in the genome of human.


name: HEAT6_HUMAN HEAT repeat-containing protein 6 (sprot)

description: A HEAT repeat-containing protein 6 that is encoded in the genome of human.


pernicious anemia

description: Megaloblastic anemia caused by vitamin B-12 deficiency due to impaired absorption. The impaired absorption of vitamin B-12 is secondary to atrophic gastritis and loss of gastric parietal cells.


name: TAFA2_HUMAN Chemokine-like protein TAFA-2 (sprot)

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


sodium molybdate (anhydrous)

An inorganic sodium salt having molybdate as the counterion.


name: STXB5_HUMAN Syntaxin-binding protein 5 (sprot)

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


name: OAS3_HUMAN 2'-5'-oligoadenylate synthase 3 (sprot)

description: A 2'-5'-oligoadenylate synthase 3 that is encoded in the genome of human.


name: DRG2_HUMAN Developmentally-regulated GTP-binding protein 2 (sprot)

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


name: NDUA4_HUMAN Cytochrome c oxidase subunit NDUFA4 (sprot)

description: A cytochrome c oxidase subunit NDUFA4 that is encoded in the genome of human.


name: IF2B_HUMAN Eukaryotic translation initiation factor 2 subunit 2 (sprot)

description: A eukaryotic translation initiation factor 2 subunit 2 that is encoded in the genome of human.


cyclobenzaprine

5-Methylidene-5H-dibenzo[a,d]cycloheptene in which one of the hydrogens of the methylidene group is substituted by a 2-(dimethylamino)ethyl group. A centrally acting skeletal muscle relaxant, it is used as its hydrochloride salt in the symptomatic treatment of painful muscle spasm.


allergic asthma

description: A asthma with a basis in a pathological type I hypersensitivity reaction.


name: YLAT1_HUMAN Y+L amino acid transporter 1 (sprot)

description: A Y+L amino acid transporter 1 that is encoded in the genome of human.


satraplatin

A platinum coordination entity that consists of a central platunum atom bound to chloro (x2), acetate (x2), amino, and cyclohexylamino groups. Used for treatment of advanced prostate cancer.


CBPB1_HUMAN Carboxypeptidase B (sprot)

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


NOL3_HUMAN Nucleolar protein 3 (sprot)

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


name: OAS2_HUMAN 2'-5'-oligoadenylate synthase 2 (sprot)

description: A 2'-5'-oligoadenylate synthase 2 that is encoded in the genome of human.


name: FOXK1_HUMAN Forkhead box protein K1 (sprot)

description: A forkhead box protein K1 that is encoded in the genome of human.


name: SDS3_HUMAN Sin3 histone deacetylase corepressor complex component SDS3 (sprot)

description: A Sin3 histone deacetylase corepressor complex component SDS3 that is encoded in the genome of human.


Clostridium difficile colitis

description: A bacterial infection of the colon secondary to infection with Clostridium difficile bacteria. This infection generally results from the loss of normal gut flora secondary to recent antibiotic use, and manifests as copious watery stools, with associated abdominal pain and myalgia. C. difficile is the most common cause of pseudomembranous colitis, and can progress to toxic megacolon if left untreated.


name: VMP1_HUMAN Vacuole membrane protein 1 (sprot)

description: A vacuole membrane protein 1 that is encoded in the genome of human.


name: I15RA_HUMAN Interleukin-15 receptor subunit alpha (sprot)

description: An interleukin-15 receptor subunit alpha that is encoded in the genome of human.


name: ESIP1_HUMAN Epithelial-stromal interaction protein 1 (sprot)

description: An epithelial-stromal interaction protein 1 that is encoded in the genome of human.


name: DHRS9_HUMAN Dehydrogenase/reductase SDR family member 9 (sprot)

description: A dehydrogenase/reductase SDR family member 9 that is encoded in the genome of human.


name: RB39B_HUMAN Ras-related protein Rab-39B (sprot)

description: A Ras-related protein Rab-39B that is encoded in the genome of human.


CUL7_HUMAN Cullin-7 (sprot)

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


methocarbamol

A racemate comprising equimolar amounts of (R)- and (S)-methocarbamol. A centrally acting skeletal muscle relaxant, it is used as an adjunct in the short-term symptomatic treatment of painful muscle spasm. The (R)-enantiomer is more active than the (S)-enantiomer.


Tissue ischemia

description: Ischemia is defined as a restriction of arterial blood supply to a tissue associated with insufficient oxygenation to support the metabolis requirements of the tissue. Depending on the involved tissues, clinical manifestations may include pain, pallor, lack of pulse, coldness, paresthesia, and paralysis. Additional associated manifestations include hemodynamic parameters (reduced blood pressure distal to the site of restricted arterial supply) and angiographic evidence of arterial occclusion.


name: SATT_HUMAN Neutral amino acid transporter A (sprot)

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


name: ENC1_HUMAN Ectoderm-neural cortex protein 1 (sprot)

description: An ectoderm-neural cortex protein 1 that is encoded in the genome of human.


name: DTX3L_HUMAN E3 ubiquitin-protein ligase DTX3L (sprot)

description: An E3 ubiquitin-protein ligase DTX3L that is encoded in the genome of human.


name: 4EBP2_HUMAN Eukaryotic translation initiation factor 4E-binding protein 2 (sprot)

description: A eukaryotic translation initiation factor 4E-binding protein 2 that is encoded in the genome of human.


TIPIRACIL HYDROCHLORIDE

A hydrochloride obtained by combining tipiracil with one equivalent of hydrochloric acid. Used in combination with trifluridine, a nucleoside metabolic inhibitor, for treatment of advanced/relapsed unresectable colorectal cancer.


name: SLUR1_HUMAN Secreted Ly-6/uPAR-related protein 1 (sprot)

description: A secreted Ly-6/uPAR-related protein 1 that is encoded in the genome of human.


name: PSB1_HUMAN Proteasome subunit beta type-1 (sprot)

description: A proteasome subunit beta type-1 that is encoded in the genome of human.


name: DCNP1_HUMAN Dendritic cell nuclear protein 1 (sprot)

description: A dendritic cell nuclear protein 1 that is encoded in the genome of human.


name: CGRE1_HUMAN Cell growth regulator with EF hand domain protein 1 (sprot)

description: A cell growth regulator with EF hand domain protein 1 that is encoded in the genome of human.


ornidazole

A C-nitro compound that is 5-nitroimidazole in which the hydrogens at positions 1 and 2 are replaced by 3-chloro-2-hydroxypropyl and methyl groups, respectively. It is used in the treatment of susceptible protozoal infections and for the treatment of anaerobic bacterial infections.


FLOT1_HUMAN Flotillin-1 (sprot)

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


name: DFFB_HUMAN DNA fragmentation factor subunit beta (sprot)

description: A DNA fragmentation factor subunit beta that is encoded in the genome of human.


name: DDT4L_HUMAN DNA damage-inducible transcript 4-like protein (sprot)

description: A DNA damage-inducible transcript 4-like protein that is encoded in the genome of human.


name: ITPK1_HUMAN Inositol-tetrakisphosphate 1-kinase (sprot)

description: An inositol-tetrakisphosphate 1-kinase that is encoded in the genome of human.


name: 3BP2_HUMAN SH3 domain-binding protein 2 (sprot)

description: An SH3 domain-binding protein 2 that is encoded in the genome of human.


avascular necrosis

description: Necrotic changes in the bone tissue due to interruption of blood supply. Most often affecting the epiphysis of the long bones, the necrotic changes result in the collapse and the destruction of the bone structure.


name: PON3_HUMAN Serum paraoxonase/lactonase 3 (sprot)

description: A serum paraoxonase/lactonase 3 that is encoded in the genome of human.


inborn mitochondrial myopathy

description: Myopathy caused by mitochondrial abnormalities.


name: PRR5_HUMAN Proline-rich protein 5 (sprot)

description: A protor-1 that is encoded in the genome of human.


superior vena cava syndrome

description: Obstruction of the blood flow in the superior vena cava caused by a malignant neoplasm, thrombosis, or aneurysm. It is a medical emergency requiring immediate treatment. Signs and symptoms include swelling and cyanosis of the face, neck, and upper arms, cough, orthopnea, and headache.


cerebrospinal fluid rhinorrhea

description: Discharge of cerebrospinal fluid through the nose. Common etiologies include trauma, neoplasms, and prior surgery, although the condition may occur spontaneously. (Otolaryngol Head Neck Surg 1997 Apr;116(4):442-9)


acute adrenal insufficiency

description: Acute adrenal insufficiency (AAI) is a rare but severe condition caused by a sudden defective production of adrenal steroids (cortisol and aldosterone). It represents an emergency, thus the rapid recognition and prompt therapy are critical for survival even before the diagnosis is made.


congenital disorder of glycosylation

description: Congenital disorder of glycosylation (CDG) is a fast growing group of inborn errors of metabolism characterized by defective activity of enzymes that participate in glycosylation (modification of proteins and other macromolecules by adding and processing of oligosaccharide side chains). CDG is comprised of phenotypically diverse disorders affecting multiple systems including the central nervous system, muscle function, immunity, endocrine system, and coagulation. The numerous entities in this group are subdivided, based on the synthetic pathway affected, into disorder of protein N-glycosylation, disorder of protein O-glycosylation, disorder of multiple glycosylation, and disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation.


A member of the class of furans that is furan which is substituted at positions 2 and 5 by formyl and hydroxymethyl substituents, respectively. Virtually absent from fresh foods, it is naturally generated in sugar-containing foods during storage, and especially by drying or cooking. It is the causative component in honey that affects the presystemic metabolism and pharmacokinetics of GZ in-vivo.


conjunctival disorder

description: Any disorder of the conjunctiva.


adult-onset Still disease

description: A rare inflammatory multisystem disorder characterized clinically by fever of unknown origin, arthralgia or arthritis, hyperleucocytosis, and typical skin rash.


name: MCM6_HUMAN DNA replication licensing factor MCM6 (sprot)

description: A DNA replication licensing factor MCM6 that is encoded in the genome of human.


A  hydroxyether that is the  ethyl ether derivative of ethylene glycol.


Reticulocytosis

description: An elevation in the number of reticulocytes (immature erythrocytes) in the peripheral blood circulation.


name: GPX8_HUMAN Probable glutathione peroxidase 8 (sprot)

description: A probable glutathione peroxidase 8 that is encoded in the genome of human.


DIXC1_HUMAN Dixin (sprot)

A dixin that is encoded in the genome of human.


acute diarrhea

description: Acute form of diarrhea.


name: DSPP_HUMAN Dentin sialophosphoprotein (sprot)

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


A pentahydroxyflavone that is luteolin with an additional hydroxy group at position 6.


name: infantile neuronal ceroid lipofuscinosis

description: A form of neuronal ceroid lipofuscinosis (NCL) characterized by onset during the second half of the first year of life and rapid mental and motor deterioration leading to loss of all psychomotor abilities.


name: CDN2D_HUMAN Cyclin-dependent kinase 4 inhibitor D (sprot)

description: A cyclin-dependent kinase 4 inhibitor D that is encoded in the genome of human.


name: MTF2_HUMAN Metal-response element-binding transcription factor 2 (sprot)

description: A metal-response element-binding transcription factor 2 that is encoded in the genome of human.


name: DIAP1_HUMAN Protein diaphanous homolog 1 (sprot)

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


name: DCP1B_HUMAN mRNA-decapping enzyme 1B (sprot)

description: An mRNA-decapping enzyme 1B that is encoded in the genome of human.


name: C1QT3_HUMAN Complement C1q tumor necrosis factor-related protein 3 (sprot)

description: A complement C1q tumor necrosis factor-related protein 3 that is encoded in the genome of human.


name: KHDC3_HUMAN KH domain-containing protein 3 (sprot)

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


name: PDE6B_HUMAN Rod cGMP-specific 3',5'-cyclic phosphodiesterase subunit beta (sprot)

description: A rod cGMP-specific 3',5'-cyclic phosphodiesterase subunit beta that is encoded in the genome of human.


temocillin

A penicillin compound having a 6alpha-methoxy and 6beta-[2-carboxy(thiophen-3-yl)acetamido side-groups.


name: FRK_HUMAN Tyrosine-protein kinase FRK (sprot)

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


PNOC_HUMAN Prepronociceptin (sprot)

A nociceptin that is encoded in the genome of human.


name: MED20_HUMAN Mediator of RNA polymerase II transcription subunit 20 (sprot)

description: A mediator of RNA polymerase II transcription subunit 20 that is encoded in the genome of human.


name: RBM14_HUMAN RNA-binding protein 14 (sprot)

description: An RNA-binding protein 14 that is encoded in the genome of human.


name: RB6I2_HUMAN ELKS/Rab6-interacting/CAST family member 1 (sprot)

description: An ELKS/Rab6-interacting/CAST family member 1 that is encoded in the genome of human.


amyl nitrite

A nitrite ester having n-pentyl as the alkyl group.


achalasia

description: A finding indicating the lack of adequate relaxation of the lower esophageal sphincter resulting in difficulty swallowing food.


name: NPTX2_HUMAN Neuronal pentraxin-2 (sprot)

description: A neuronal pentraxin-2 that is encoded in the genome of human.


DEGUELIN

A rotenone that is 13,13a-dihydro-3H-chromeno[3,4-b]pyrano[2,3-h]chromen-7(7aH)-one substituted by methoxy groups at positions 9 and 10, and by two methyl groups at position 3 (the 7aS,13aS-stereoisomer). It exists in abundant quantities in the bark, roots, and leaves of the Leguminosae family of plants and reported to exert anti-tumour effects in various cancers.


hyperopia

description: A refractive error in which rays of light entering the eye parallel to the optic axis are brought to a focus behind the retina, as a result of the eyeball being too short from front to back. It is also called farsightedness because the near point is more distant than it is in emmetropia with an equal amplitude of accommodation. (Dorland, 27th ed)


CBPB2_HUMAN Carboxypeptidase B2 (sprot)

A carboxypeptidase B2 that is encoded in the genome of human.


lymphocytic choriomeningitis

description: A form of meningitis caused by lymphocytic choriomeningitis virus. mice and other rodents serve as the natural hosts, and infection in humans usually occurs through inhalation or ingestion of infectious particles. Clinical manifestations include an influenza-like syndrome followed by stiff neck, alterations of mentation, ataxia, and incontinence. Maternal infections may result in fetal malformations and injury, including neonatal hydrocephalus, aqueductal stenosis, chorioretinitis, and microcephaly. (From Joynt, Clinical Neurology, 1996, Ch26, pp1-3)


name: VPS18_HUMAN Vacuolar protein sorting-associated protein 18 homolog (sprot)

description: A vacuolar protein sorting-associated protein 18 that is encoded in the genome of human.


ACETYLCHOLINE CHLORIDE

The chloride salt of acetylcholine, and a parasympatomimetic drug.


name: TRAK1_HUMAN Trafficking kinesin-binding protein 1 (sprot)

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


name: CP135_HUMAN Centrosomal protein of 135 kDa (sprot)

description: A centrosomal protein of 135 kDa that is encoded in the genome of human.


name: ARP8_HUMAN Actin-related protein 8 (sprot)

description: An actin-related protein 8 that is encoded in the genome of human.


name: undifferentiated connective tissue syndrome

description: An autoimmune disorder which does not meet classification criteria used to establish the presence of other well-defined connective tissue diseases.


XCL2_HUMAN Cytokine SCM-1 beta (sprot)

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


name: MSH5_HUMAN MutS protein homolog 5 (sprot)

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


Hyperparakeratosis

description: Abnormal keratinization of the epidermal stratum coreum (horny layer) with increased keratin formation, preservation of the nuclei in the superficial cells, and absence of the stratum granulosum.


name: 3BHS2_HUMAN 3 beta-hydroxysteroid dehydrogenase/Delta 5-->4-isomerase type 2 (sprot)

description: A 3 beta-hydroxysteroid dehydrogenase/Delta 5-->4-isomerase type 2 that is encoded in the genome of human.


name: RL26_HUMAN Large ribosomal subunit protein uL24 (sprot)

description: A eukaryotic-type large ribosomal subunit protein uL24 that is encoded in the genome of human.


name: HXD10_HUMAN Homeobox protein Hox-D10 (sprot)

description: A homeobox protein Hox-D10 that is encoded in the genome of human.


GRASP_HUMAN Protein TAMALIN (sprot)

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


name: MIA40_HUMAN Mitochondrial intermembrane space import and assembly protein 40 (sprot)

description: A mitochondrial intermembrane space import and assembly protein 40 that is encoded in the genome of human.


boldenone undecylenate

An  3-oxo-Delta(1),Delta(4)-steroid substituted by an oxo group at position 3 and a beta-hydroxy group at position 17. It is an  anabolic androgenic steroid that has been developed for veterinary use.


Robinow syndrome

description: Robinow syndrome (RS) is a rare genetic syndrome characterized by limb shortening and abnormalities of the head, face and external genitalia.


CHLOROPRENE

A macromolecule composed of repeating (2Z)-2-chlorobut-2-ene-1,4-diyl units.


name: RAB35_HUMAN Ras-related protein Rab-35 (sprot)

description: A Ras-related protein Rab-35 that is encoded in the genome of human.


name: TBD2B_HUMAN TBC1 domain family member 2B (sprot)

description: A TBC1 domain family member 2B that is encoded in the genome of human.


name: S13A2_HUMAN Solute carrier family 13 member 2 (sprot)

description: A solute carrier family 13 member 2 that is encoded in the genome of human.


name: CENPB_HUMAN Major centromere autoantigen B (sprot)

description: A major centromere autoantigen B that is encoded in the genome of human.


name: CENPC_HUMAN Centromere protein C (sprot)

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


name: SP4_HUMAN Transcription factor Sp4 (sprot)

description: A transcription factor Sp4 that is encoded in the genome of human.


name: EIF3H_HUMAN Eukaryotic translation initiation factor 3 subunit H (sprot)

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


name: PARM1_HUMAN Prostate androgen-regulated mucin-like protein 1 (sprot)

description: A prostate androgen-regulated mucin-like protein 1 that is encoded in the genome of human.


ductal breast carcinoma in situ

description: A carcinoma entirely confined to the mammary ducts. It is also known as DCIS. There is no evidence of invasion of the basement membrane. Currently, it is classified into three categories: High-grade DCIS, intermediate-grade DCIS and low-grade DCIS. In this classification the DCIS grade is defined by a combination of nuclear grade, architectural growth pattern and presence of necrosis. The size of the lesion as well as the grade and the clearance margins play a major role in dictating the most appropriate therapy for DCIS.


N-Acetyltyrosine

An N-acetyltyrosine in which the chiral centre has L configuration.


name: BRD8_HUMAN Bromodomain-containing protein 8 (sprot)

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


amisulpride

A member of the class of benzamides resulting from the formal condensation of the carboxy group of 4-amino-5-(ethylsulfonyl)-2-methoxybenzoic acid with the primary amino group of 2-(aminomethyl)-1-ethylpyrrolidine. It is a potent, selective dopamine D2 and D3 receptor antagonist. It is an atypical antipsychotic/antischizophrenic agent with limited extrapyrimidal side effects.


name: RS23_HUMAN Small ribosomal subunit protein uS12 (sprot)

description: A eukaryotic-type small ribosomal subunit protein uS12 that is encoded in the genome of human.


phenolsulfonphthalein

3H-2,1-Benzoxathiole 1,1-dioxide in which both of the hydrogens at position 3 have been substituted by 4-hydroxyphenyl groups. A pH indicator changing colour from yellow below pH 6.8 to bright pink above pH 8.2, it is commonly used as an indicator in cell cultures and in home swimming pool test kits. It is also used in the (now infrequently performed) phenolsulfonphthalein (PSP) test for estimation of overall blood flow through the kidney.


METHACRYLIC ACID

An alpha,beta-unsaturated monocarboxylic acid that is acrylic acid in which the hydrogen at position 2 is substituted by a methyl group.


name: ASAP3_HUMAN Arf-GAP with SH3 domain, ANK repeat and PH domain-containing protein 3 (sprot)

description: An Arf-GAP with SH3 domain, ANK repeat and PH domain-containing protein 3 that is encoded in the genome of human.


name: E2AK3_HUMAN Eukaryotic translation initiation factor 2-alpha kinase 3 (sprot)

description: A eukaryotic translation initiation factor 2-alpha kinase 3 that is encoded in the genome of human.


name: NPY2R_HUMAN Neuropeptide Y receptor type 2 (sprot)

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


name: RDH13_HUMAN Retinol dehydrogenase 13 (sprot)

description: A retinol dehydrogenase 13 that is encoded in the genome of human.


name: LBR_HUMAN Delta(14)-sterol reductase LBR (sprot)

description: A Delta(14)-sterol reductase LBR that is encoded in the genome of human.


name: AT1A2_HUMAN Sodium/potassium-transporting ATPase subunit alpha-2 (sprot)

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


name: DHB2_HUMAN 17-beta-hydroxysteroid dehydrogenase type 2 (sprot)

description: A 17-beta-hydroxysteroid dehydrogenase type 2 that is encoded in the genome of human.


name: SPOC1_HUMAN SPOC domain-containing protein 1 (sprot)

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


name: MYBPH_HUMAN Myosin-binding protein H (sprot)

description: A myosin-binding protein H that is encoded in the genome of human.


name: CLCA4_HUMAN Calcium-activated chloride channel regulator 4 (sprot)

description: A calcium-activated chloride channel regulator 4 that is encoded in the genome of human.


name: OSTF1_HUMAN Osteoclast-stimulating factor 1 (sprot)

description: An osteoclast-stimulating factor 1 that is encoded in the genome of human.


name: BRD9_HUMAN Bromodomain-containing protein 9 (sprot)

description: A bromodomain-containing protein 9 that is encoded in the genome of human.


name: ZBT17_HUMAN Zinc finger and BTB domain-containing protein 17 (sprot)

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


Hemophagocytosis

description: Phagocytosis by macrophages of erythrocytes, leukocytes, platelets, and their precursors in bone marrow and other tissues.


bacterial vaginosis

description: Infection caused by bacterial overgrowth in the vagina. Most affected women are asymptomatic. When symptoms occur, they include foul-smelling vaginal discharge, vaginal itching, and burning. Risk factors include sexual activity with multiple partners and the use of vaginal douches and intrauterine devices. Up to a third of cases resolve without treatment. Antibiotic treatment is recommended when symptoms are present and for women that are pregnant at the time of infection.


sirtinol

A benzamide obtained by formal condensation of the carboxy group of 2-{[(2-hydroxy-1-naphthyl)methylene]amino}benzoic acid with the amino group of 1-phenylethylamine.


name: DPA1_HUMAN HLA class II histocompatibility antigen, DP alpha 1 chain (sprot)

description: An MHC class II histocompatibility antigen alpha chain DPA1 that is encoded in the genome of human.


PBMU2_HUMAN Protein PBMUCL2 (sprot)

A protein PBMUCL2 that is encoded in the genome of human.


name: VEGFD_HUMAN Vascular endothelial growth factor D (sprot)

description: A vascular endothelial growth factor D that is encoded in the genome of human.


name: NKG2A_HUMAN NKG2-A/NKG2-B type II integral membrane protein (sprot)

description: An NKG2-A/NKG2-B type II integral membrane protein that is encoded in the genome of human.


name: ST14_HUMAN Suppressor of tumorigenicity 14 protein (sprot)

description: A suppressor of tumorigenicity 14 protein that is encoded in the genome of human.


name: ADH6_HUMAN Alcohol dehydrogenase 6 (sprot)

description: An alcohol dehydrogenase 6 that is encoded in the genome of human.


name: PTGR2_HUMAN Prostaglandin reductase 2 (sprot)

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


metaplastic breast carcinoma

description: A group of invasive breast carcinomas characterized by the presence of an adenocarcinomatous component which is admixed with a dominant component that is composed of squamous cells, spindle cells, or mesenchymal cells.


name: CCR10_HUMAN C-C chemokine receptor type 10 (sprot)

description: A C-C chemokine receptor type 10 that is encoded in the genome of human.


name: DYRK3_HUMAN Dual specificity tyrosine-phosphorylation-regulated kinase 3 (sprot)

description: A dual specificity tyrosine-phosphorylation-regulated kinase 3 that is encoded in the genome of human.


name: TNF15_HUMAN Tumor necrosis factor ligand superfamily member 15 (sprot)

description: A tumor necrosis factor ligand superfamily member 15 that is encoded in the genome of human.


name: SPY3_HUMAN Protein sprouty homolog 3 (sprot)

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


lomitapide

A member of the class of benzamides obtained by formal condensation of the carboxy group of 4'-(trifluoromethyl)biphenyl-2-carboxylic acid with the primary amino group of 9-[4-(4-aminopiperidin-1-yl)butyl]-N-(2,2,2-trifluoroethyl)-9H-fluorene-9-carboxamide. Used (as its mesylate salt) as a complement to a low-fat diet and other lipid-lowering treatments in patients with homozygous familial hypercholesterolemia.


name: PHEX_HUMAN Phosphate-regulating neutral endopeptidase PHEX (sprot)

description: A phosphate-regulating neutral endopeptidase PHEX that is encoded in the genome of human.


name: COX6C_HUMAN Cytochrome c oxidase subunit 6C (sprot)

description: A cytochrome c oxidase subunit 6C that is encoded in the genome of human.


rolapitant

An azaspiro compound that is 1,7-diazaspiro[4.5]decan-2-one carrying additional phenyl and 1-{[3,5-bis(trifluoromethyl)phenyl]ethoxy}methyl substituents at position 8. Used (in the form of the hydrochloride hydrate) for the prevention of delayed nausea and vomiting associated with initial and repeat courses of emetogenic cancer chemotherapy.


bilobalide

A terpenoid trilactone found in extracts of Ginkgo biloba.


TSN15_HUMAN Tetraspanin-15 (sprot)

A tetraspanin-15 that is encoded in the genome of human.


name: CYBP_HUMAN Calcyclin-binding protein (sprot)

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


name: splenic diffuse red pulp small B-cell lymphoma

description: Splenic diffuse red pulp small B-cell lymphoma is a rare, indolent B-cell non-Hodgkin lymphoma characterized by abnormal proliferation of small, monomorphous, basophilic B-lymphocytes, with villous cytoplasm, in the splenic red pulp, bone marrow and peripheral blood. It typically presents in the late clinical stages with splenomegaly and moderate lymphocytosis. Cytopenias are rare and likely associated with hypersplenism.


name: ACTC_HUMAN Actin, alpha cardiac muscle 1 (sprot)

description: An actin, alpha cardiac muscle 1 that is encoded in the genome of human.


STX11_HUMAN Syntaxin-11 (sprot)

A syntaxin-11 that is encoded in the genome of human.


sodium chlorate

An inorganic sodium salt that has chlorate as the counter-ion. An oxidising agent, it is used for bleaching paper and as a herbicide. It is also used in the manufacture of dyes, explosives and matches.


name: ANKZ1_HUMAN tRNA endonuclease ANKZF1 (sprot)

description: A tRNA endonuclease ANKZF1 that is encoded in the genome of human.


Becker muscular dystrophy

description: Becker muscular dystrophy (BMD) is a neuromuscular disease characterized by progressive muscle wasting and weakness due to degeneration of skeletal, smooth and cardiac muscle.


name: SPTN1_HUMAN Spectrin alpha chain, non-erythrocytic 1 (sprot)

description: A spectrin alpha chain, non-erythrocytic 1 that is encoded in the genome of human.


name: SAR1B_HUMAN Small COPII coat GTPase SAR1B (sprot)

description: A GTP-binding protein SAR1b that is encoded in the genome of human.


triprolidine

An N-alkylpyrrolidine that is acrivastine in which the pyridine ring is lacking the propenoic acid substituent. It is a sedating antihistamine that is used (generally as the monohydrochloride monohydrate) for the relief of the symptoms of uticaria, rhinitis, and various pruritic skin disorders.


name: HRH1_HUMAN Histamine H1 receptor (sprot)

description: A histamine H1 receptor that is encoded in the genome of human.


name: S6A14_HUMAN Sodium- and chloride-dependent neutral and basic amino acid transporter B(0+) (sprot)

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


DPCPX

An oxopurine that is 7H-xanthine substituted at positions 1 and 3 by propyl groups and at position 8 by a cyclohexyl group.


hereditary ataxia

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


cholesteryl ester storage disease

description: A form of lysosomal acid lipase deficiency characterized by progressive cholesterol esters and triglyceride accumulation in tissues and organs typically presenting with hepatosplenomegaly, liver dysfunction and/or dyslipidemia.


name: GPR19_HUMAN Probable G-protein coupled receptor 19 (sprot)

description: A probable G-protein coupled receptor 19 that is encoded in the genome of human.


epithelioid hemangioendothelioma

description: A low-grade malignant blood vessel neoplasm. It is characterized by the presence of epithelioid endothelial cells. The neoplastic cells are arranged in cords and nests, which are embedded in a myxoid to hyalinized stroma.


Newcastle disease

description: A condition caused by infection by the Newcastle disease virus, which may be characterized by conjunctivitis, respiratory illness, and diarrhea.


renal artery atheroma

description: A atherosclerosis that involves the renal artery.


gallotannin

A class of hydrolysable tannins obtained by condensation of the carboxy group of gallic acid (and its polymeric derivatives) with the hydroxy groups of a monosaccharide (most commonly glucose).


name: PALB2_HUMAN Partner and localizer of BRCA2 (sprot)

description: A partner and localizer of BRCA2 that is encoded in the genome of human.


name: INAR2_HUMAN Interferon alpha/beta receptor 2 (sprot)

description: An interferon alpha/beta receptor 2 that is encoded in the genome of human.


varenicline

An organic heterotetracyclic compound that acts as a partial agonist for nicotinic cholinergic receptors and is used (in the form of its tartate salt) as an aid to giving up smoking.


Central scotoma

description: An area of depressed vision located at the point of fixation and that interferes with central vision.


name: PPM1L_HUMAN Protein phosphatase 1L (sprot)

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


name: LIN41_HUMAN E3 ubiquitin-protein ligase TRIM71 (sprot)

description: An E3 ubiquitin-protein ligase TRIM71 that is encoded in the genome of human.


name: AGRG3_HUMAN Adhesion G protein-coupled receptor G3 (sprot)

description: An adhesion G protein-coupled receptor G3 that is encoded in the genome of human.


PYRROLIDINE DITHIOCARBAMATE

A member of the class of dithiocarbamic acids that is the N-dithiocarboxy derivative of pyrrolidine.


lung sarcoma

description: A malignant mesenchymal neoplasm that arises from the lung. Representative examples include Kaposi sarcoma, leiomyosarcoma, and synovial sarcoma.


name: ABC3F_HUMAN DNA dC->dU-editing enzyme APOBEC-3F (sprot)

description: A DNA dC->dU-editing enzyme APOBEC-3F that is encoded in the genome of human.


name: HAKAI_HUMAN E3 ubiquitin-protein ligase Hakai (sprot)

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


name: HERC2_HUMAN E3 ubiquitin-protein ligase HERC2 (sprot)

description: An E3 ubiquitin-protein ligase HERC2 that is encoded in the genome of human.


name: TAF1_HUMAN Transcription initiation factor TFIID subunit 1 (sprot)

description: A transcription initiation factor TFIID subunit 1 that is encoded in the genome of human.


name: HDGL1_HUMAN Hepatoma-derived growth factor-like protein 1 (sprot)

description: A hepatoma-derived growth factor-like protein 1 that is encoded in the genome of human.


IST1_HUMAN IST1 homolog (sprot)

An IST1 homolog that is encoded in the genome of human.


name: VWA1_HUMAN von Willebrand factor A domain-containing protein 1 (sprot)

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


methyl salicylate

A benzoate ester that is the methyl ester of salicylic acid.


name: IRGM_HUMAN Immunity-related GTPase family M protein (sprot)

description: An immunity-related GTPase family M protein that is encoded in the genome of human.


tenosynovitis

description: Inflammation of the synovial lining of a tendon sheath. Causes include trauma, tendon stress, bacterial disease (gonorrhea, tuberculosis), rheumatic disease, and gout. Common sites are the hand, wrist, shoulder capsule, hip capsule, hamstring muscles, and Achilles tendon. The tendon sheaths become inflamed and painful, and accumulate fluid. Joint mobility is usually reduced.


name: CDO1_HUMAN Cysteine dioxygenase type 1 (sprot)

description: A cysteine dioxygenase type 1 that is encoded in the genome of human.


lucitanib

A naphthalenecarboxamide obtained from formal condensation of the carboxy group of aminocyclopropyl)methoxy]-6-methoxyquinolin-4-yl}oxy)-1-naphthoic acid with methylamine.


name: PSME4_HUMAN Proteasome activator complex subunit 4 (sprot)

description: A proteasome activator complex subunit 4 that is encoded in the genome of human.


paroxysmal nonkinesigenic dyskinesia

description: Paroxysmal non-kinesigenic dyskinesia (PNKD) is a form of paroxysmal dyskinesia, characterized by attacks of dystonic or choreathetotic movements precipitated by stress, fatigue, coffee or alcohol intake or menstruation.


name: M2OM_HUMAN Mitochondrial 2-oxoglutarate/malate carrier protein (sprot)

description: A mitochondrial 2-oxoglutarate/malate carrier protein that is encoded in the genome of human.


lymphoid neoplasm

description: A neoplasm composed of a lymphocytic cell population which is usually malignant (clonal) by molecular genetic and/or immunophenotypic analysis. Lymphocytic neoplasms include Hodgkin and non-Hodgkin lymphomas, acute and chronic lymphocytic leukemias, and plasma cell neoplasms.


name: RRAGC_HUMAN Ras-related GTP-binding protein C (sprot)

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


mevastatin

A carboxylic ester that is pravastatin that is lacking the allylic hydroxy group. A hydroxymethylglutaryl-CoA reductase inhibitor (statin) isolated from Penicillium citrinum and from Penicillium brevicompactum, its clinical use as a lipid-regulating drug ceased following reports of toxicity in animals.


name: DOCK7_HUMAN Dedicator of cytokinesis protein 7 (sprot)

description: A dedicator of cytokinesis protein 7 that is encoded in the genome of human.


name: CNKR1_HUMAN Connector enhancer of kinase suppressor of ras 1 (sprot)

description: A connector enhancer of kinase suppressor of ras 1 that is encoded in the genome of human.


name: ALKB1_HUMAN Nucleic acid dioxygenase ALKBH1 (sprot)

description: A nucleic acid dioxygenase ALKBH1 that is encoded in the genome of human.


mepyramine

An ethylenediamine derivative that is  ethylenediamine in which one of the amino nitrogens is substituted by two methyl groups and the remaining amino nitrogen is substituted by a 4-methoxybenzyl and a pyridin-2-yl group.


hypopharynx cancer

description: A primary or metastatic malignant neoplasm that affects the hypopharynx.


PVR_HUMAN Poliovirus receptor (sprot)

A poliovirus receptor that is encoded in the genome of human.


name: SODIUM beta-NICOTINAMIDE ADENINE DINUCLEOTIDE PHOSPHATE


name: ADT3_HUMAN ADP/ATP translocase 3 (sprot)

description: An ADP/ATP translocase 3 that is encoded in the genome of human.


name: MO2R1_HUMAN Cell surface glycoprotein CD200 receptor 1 (sprot)

description: A cell surface glycoprotein CD200 receptor 1 that is encoded in the genome of human.


name: FND3B_HUMAN Fibronectin type III domain-containing protein 3B (sprot)

description: A fibronectin type III domain-containing protein 3B that is encoded in the genome of human.


name: MPH6_HUMAN M-phase phosphoprotein 6 (sprot)

description: An M-phase phosphoprotein 6 that is encoded in the genome of human.


name: RAP2A_HUMAN Ras-related protein Rap-2a (sprot)

description: A Ras-related protein Rap-2a that is encoded in the genome of human.


name: ELMO2_HUMAN Engulfment and cell motility protein 2 (sprot)

description: An engulfment and cell motility protein 2 that is encoded in the genome of human.


CTNA2_HUMAN Catenin alpha-2 (sprot)

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


ossifying fibromyxoid tumor

description: A rare soft tissue tumor of uncertain lineage characterized by the presence of neoplastic spindle to round cells forming cords in a fibromyxoid stroma. The lesions are associated with the formation of metaplastic bone. Most patients present with painless subcutaneous masses. Recurrences have been reported in a minority of patients.


name: ATS19_HUMAN A disintegrin and metalloproteinase with thrombospondin motifs 19 (sprot)

description: An a disintegrin and metalloproteinase with thrombospondin motifs 19 that is encoded in the genome of human.


name: primary pulmonary diffuse large B-cell lymphoma

description: A diffuse large B-cell lymphoma that is localized to the lungs at the time of presentation. Signs and symptoms include cough, dyspnea, and hemoptysis.


name: RANG_HUMAN Ran-specific GTPase-activating protein (sprot)

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


name: ACBP_HUMAN Acyl-CoA-binding protein (sprot)

description: An acyl-CoA-binding protein that is encoded in the genome of human.


D-tyrosine

An optically active form of tyrosine having D-configuration.


OVCA2_HUMAN Esterase OVCA2 (sprot)

An esterase OVCA2 that is encoded in the genome of human.


name: TXND5_HUMAN Thioredoxin domain-containing protein 5 (sprot)

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


dyslexia

description: A learning disorder characterized by an impairment in processing written words. Reading difficulties can include distortions, omissions or substitutions of characters. Oral and silent reading difficulties can include faulty and slow comprehension.


WRIP1_HUMAN ATPase WRNIP1 (sprot)

An ATPase WRNIP1 that is encoded in the genome of human.


testicular lymphoma

description: A lymphoma that arises from the testis and is not associated with lymphoma in another anatomic site.


ethyl

An organic radical derived from ethane.


name: tenosynovial giant cell tumor, diffuse type

description: A locally aggressive, diffusely infiltrating tumor, arising in the tendon sheath. It is composed of synovial-like mononuclear cells, hemosiderin-laden macrophages, foam cells, and inflammatory cells. Multinucleated osteoclast-like giant cells are usually present, although in a minority of cases they may be absent or rare. It predominantly affects young adults. Symptoms include joint swelling, pain, and joint effusion.


N-acetylneuraminic acid

An N-acylneuraminic acid where the N-acyl group is specified as acetyl.


name: TWSG1_HUMAN Twisted gastrulation protein homolog 1 (sprot)

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


name: NDF4_HUMAN Neurogenic differentiation factor 4 (sprot)

description: A neurogenic differentiation factor 4 that is encoded in the genome of human.


name: FIBG_HUMAN Fibrinogen gamma chain (sprot)

description: A fibrinogen gamma chain that is encoded in the genome of human.


name: WNK4_HUMAN Serine/threonine-protein kinase WNK4 (sprot)

description: A serine/threonine-protein kinase WNK4 that is encoded in the genome of human.


pulmonary hemosiderosis

description: A respiratory disease due to repeated episodes of diffuse alveolar hemorrhage without any underlying apparent cause, most often in children. Anemia, cough, and pulmonary infiltrates on chest radiographs are found in majority of the patients.


PLST_HUMAN Plastin-3 (sprot)

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


name: KAT3_HUMAN Kynurenine--oxoglutarate transaminase 3 (sprot)

description: A kynurenine--oxoglutarate transaminase 3 that is encoded in the genome of human.


proximal renal tubular acidosis

description: Proximal renal tubular acidosis (pRTA) is a tubular kidney disease characterized by impaired ability of the proximal tubule to reabsorb bicarbonate from the glomerular filtrate leading to hyperchloremic metabolic acidosis.


name: RN141_HUMAN RING finger protein 141 (sprot)

description: A RING finger protein 141 that is encoded in the genome of human.


name: CTR2_HUMAN Cationic amino acid transporter 2 (sprot)

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


etidronic acid

A  1,1-bis(phosphonic acid) that is (ethane-1,1-diyl)bis(phosphonic acid) having a hydroxy substituent at the 1-position. It inhibits the formation, growth, and dissolution of hydroxyapatite crystals by chemisorption to calcium phosphate surfaces.


Severe periodontitis

description: A severe form of periodontitis.


gastrointestinal lymphoma

description: A non-Hodgkin or Hodgkin lymphoma that arises from any part of the digestive system, with the bulk of the disease localized to that site.


ANXA6_HUMAN Annexin A6 (sprot)

An annexin A6 that is encoded in the genome of human.


name: TRI58_HUMAN E3 ubiquitin-protein ligase TRIM58 (sprot)

description: An E3 ubiquitin-protein ligase TRIM58 that is encoded in the genome of human.


dumping syndrome

description: A disorder of the gastrointestinal tract. It is typically caused by the rapid emptying of undigested food from the stomach to the small intestine following gastroesophageal surgery but may be seen secondary to diabetes or the use of certain medications. Clinical signs may be seen 30-60 minutes after eating (early dumping): cramping, nausea, vomiting and diarrhea or they may be seen 1-3 hours later as a result of hyperinsulinemic hypoglycemia (late dumping): sweating, dizziness, confusion and heart palpitations. Untreated, the clinical course progresses to malnutrition and weight loss.


name: TP8L3_HUMAN Tumor necrosis factor alpha-induced protein 8-like protein 3 (sprot)

description: A tumor necrosis factor alpha-induced protein 8-like protein 3 that is encoded in the genome of human.


KREM2_HUMAN Kremen protein 2 (sprot)

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


KREM1_HUMAN Kremen protein 1 (sprot)

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


name: SET1B_HUMAN Histone-lysine N-methyltransferase SETD1B (sprot)

description: A histone-lysine N-methyltransferase SETD1B that is encoded in the genome of human.


name: SAM14_HUMAN Sterile alpha motif domain-containing protein 14 (sprot)

description: A sterile alpha motif domain-containing protein 14 that is encoded in the genome of human.


Motor neuron atrophy

description: Wasting involving the motor neuron.


Sezary syndrome

description: Sezary syndrome (SS) is an aggressive form of cutaneous T-cell lymphoma characterized by a triad of erythroderma, lymphadenopathy and circulating atypical lymphocytes (Sezary cells).


name: FUT10_HUMAN Alpha-(1,3)-fucosyltransferase 10 (sprot)

description: An alpha-(1,3)-fucosyltransferase 10 that is encoded in the genome of human.


Cerebellar edema

description: Swelling from fluid accumulation (serous fluid infiltration into the interstitial space) in the cerebellum.


metipranolol

3-(Propan-2-ylamino)propane-1,2-diol in which the hydrogen of the primary hydroxy group is substituted by a 4-acetoxy-2,3,5-trimethylphenoxy group. A non-cardioselective beta-blocker, it is used to lower intra-ocular pressure in the management of open-angle glaucoma.


Upper airway obstruction

description: Increased resistance to the passage of air in the upper airway.


A derivative of alpha-D-ribose having a phosphate group at the 5-position and a diphosphate at the 1-position.


pharyngitis

description: Inflammation of the throat most often caused by viral and bacterial infections. Other causes include allergens, chemical substances, and trauma.


name: LAMA4_HUMAN Laminin subunit alpha-4 (sprot)

description: A laminin subunit alpha-4 that is encoded in the genome of human.


CBP_HUMAN CREB-binding protein (sprot)

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


name: DC1I1_HUMAN Cytoplasmic dynein 1 intermediate chain 1 (sprot)

description: A cytoplasmic dynein 1 intermediate chain 1 that is encoded in the genome of human.


Periodic fever

description: Episodic fever that recurs at regular intervals.


cardio-renal syndrome

description: A disorder of the heart and kidneys in which dysfunction of one of the organs induces dysfunction of the other organ.


name: ETHE1_HUMAN Persulfide dioxygenase ETHE1, mitochondrial (sprot)

description: A persulfide dioxygenase ETHE1, mitochondrial that is encoded in the genome of human.


VALERENIC ACID

A monocarboxylic acid that is 2-methylprop-2-enoic acid which is substituted at position 3 by a 3,7-dimethyl-2,4,5,6,7,7a-hexahydro-1H-inden-4-yl group. A bicyclic sesquiterpenoid constituent of the essential oil of the Valerian plant.


name: NPT2A_HUMAN Sodium-dependent phosphate transport protein 2A (sprot)

description: A sodium-dependent phosphate transport protein 2A that is encoded in the genome of human.


name: COPA_HUMAN Coatomer subunit alpha (sprot)

description: A coatomer subunit alpha that is encoded in the genome of human.


neoplasm of esophagus

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


N-retinylidene-N-retinylethanolamine

A pyridinium ion obtained by formal condensation between two molecules of retinol and one the amino group of ethanolamine. A major constituent of retinal pigment epithelium lipofuscin


cephradine

A first-generation cephalosporin antibiotic with a methyl substituent at position 3, and a (2R)-2-amino-2-cyclohexa-1,4-dien-1-ylacetamido substituent at position 7, of the cephem skeleton.


name: PPAL_HUMAN Lysosomal acid phosphatase (sprot)

description: A lysosomal acid phosphatase that is encoded in the genome of human.


name: OTUD1_HUMAN OTU domain-containing protein 1 (sprot)

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


alverine

A tertiary amine having one ethyl and two 3-phenylprop-1-yl groups attached to the nitrogen. An antispasmodic that acts directly on intestinal and uterine smooth muscle, it is used (particularly as the citrate salt) in the treatment of irritable bowel syndrome.


name: VAMP8_HUMAN Vesicle-associated membrane protein 8 (sprot)

description: A vesicle-associated membrane protein 8 that is encoded in the genome of human.


prion disease

description: A transmissible disease that is caused by a protein that is able to induce abnormal folding of normal cellular proteins, leading to characteristic spongiform brain changes, which are associated with neuronal loss without an inflammatory response. Such disorders have typically long incubation periods, but are then generally rapidly progressive and are uniformly fatal.


SGCD_HUMAN Delta-sarcoglycan (sprot)

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


diatrizoate

A member of the class of benzoic acids that is benzoic acid having iodo substituents at the 2-, 4- and 6-positions and acetamido substituents at the 3- and 5-positions. It is used, mainly as its N-methylglucamine and sodium salts, as an X-ray contrast medium in gastrointestinal studies, angiography, and urography.


succinimide

A dicarboximide that is pyrrolidine which is substituted by oxo groups at positions 2 and 5.


name: AWAT1_HUMAN Acyl-CoA wax alcohol acyltransferase 1 (sprot)

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


description: Severe generalized recessive dystrophic epidermolysis bullosa (RDEB-sev gen) is the most severe subtype of dystrophic epidermolysis bullosa (DEB), formerly known as the Hallopeau-Siemens type, and is characterized by generalized cutaneous and mucosal blistering and scarring associated with severe deformities and major extracutaneous involvement.


name: CLPX_HUMAN ATP-dependent Clp protease ATP-binding subunit clpX-like, mitochondrial (sprot)

description: An ATP-dependent Clp protease ATP-binding subunit clpX-like, mitochondrial that is encoded in the genome of human.


name: KCNJ9_HUMAN G protein-activated inward rectifier potassium channel 3 (sprot)

description: A G protein-activated inward rectifier potassium channel 3 that is encoded in the genome of human.


name: GSTA2_HUMAN Glutathione S-transferase A2 (sprot)

description: A glutathione S-transferase A2 that is encoded in the genome of human.


proctitis

description: An inflammatory process affecting the anus. It is usually caused by sexually transmitted infectious agents and/or inflammatory bowel disease.


otitis media with effusion

description: Otitis media associated with accumulation of fluid in the middle ear.


TES_HUMAN Testin (sprot)

A testin that is encoded in the genome of human.


adjustment disorder

description: A category of psychiatric disorders which are characterized by emotional or behavioral symptoms that develop within 3 months of a stressor and do not persist for more than an additional 6 months after the stressor is no longer present.


trehalose 6,6'-dimycolate

A trehalose mycolate compound consisting of two C58 mycolate groups attached to the 6- and 6'-positions of alpha,alpha'-trehalose. A mycobacterial cell wall glycolipid.


name: SRA1_HUMAN Steroid receptor RNA activator 1 (sprot)

description: A steroid receptor RNA activator 1 that is encoded in the genome of human.


lipoid nephrosis

description: A glomerular disorder characterized by the electron microscopic finding of loss of podocyte foot processes. Light microscopic examination does not show glomerular changes. Patients present with proteinuria and nephrotic syndrome.


name: KI2S1_HUMAN Killer cell immunoglobulin-like receptor 2DS1 (sprot)

description: A killer cell immunoglobulin-like receptor 2DS1 that is encoded in the genome of human.


name: EAPP_HUMAN E2F-associated phosphoprotein (sprot)

description: An E2F-associated phosphoprotein that is encoded in the genome of human.


name: hereditary papillary renal cell carcinoma

description: A familial carcinoma inherited in an autosomal dominant trait. It is characterized by the development of multiple, bilateral papillary renal cell carcinomas. The carcinomas range from microscopic lesions to clinically symptomatic tumors. It is associated with activating mutations of the MET oncogene.


extraocular retinoblastoma

description: Retinoblastoma that has spread beyond the eye e.g. to brain, soft tissue/bone, bone marrow.


PYRIDINE

An  azaarene comprising a benzene core in which one -CH group is replaced by a nitrogen atom. It is the parent compound of the class pyridines.


FA47E_HUMAN Protein FAM47E (sprot)

A protein FAM47E that is encoded in the genome of human.


name: TIG1_HUMAN Retinoic acid receptor responder protein 1 (sprot)

description: A retinoic acid receptor responder protein 1 that is encoded in the genome of human.


name: PDLI4_HUMAN PDZ and LIM domain protein 4 (sprot)

description: A PDZ and LIM domain protein 4 that is encoded in the genome of human.


name: NDUS1_HUMAN NADH-ubiquinone oxidoreductase 75 kDa subunit, mitochondrial (sprot)

description: An NADH-ubiquinone oxidoreductase 75 kDa subunit, mitochondrial that is encoded in the genome of human.


SYN3_HUMAN Synapsin-3 (sprot)

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


name: TNR14_HUMAN Tumor necrosis factor receptor superfamily member 14 (sprot)

description: A tumor necrosis factor receptor superfamily member 14 that is encoded in the genome of human.


name: TNF14_HUMAN Tumor necrosis factor ligand superfamily member 14 (sprot)

description: A tumor necrosis factor ligand superfamily member 14 that is encoded in the genome of human.


Hyperchloremia

description: An abnormally increased chloride concentration in the blood.


dichlorvos

An alkenyl phosphate that is the 2,2-dichloroethenyl ester of dimethyl phosphate.


carotid artery thrombosis

description: Blood clot formation in any part of the carotid arteries. This may produce carotid stenosis or occlusion of the vessel, leading to transient ischemic attack; cerebral infarction; or amaurosis fugax.


name: RED1_HUMAN Double-stranded RNA-specific editase 1 (sprot)

description: A double-stranded RNA-specific editase 1 that is encoded in the genome of human.


name: GNAT2_HUMAN Guanine nucleotide-binding protein G(t) subunit alpha-2 (sprot)

description: A guanine nucleotide-binding protein G(t) subunit alpha-2 that is encoded in the genome of human.


name: HINT2_HUMAN Adenosine 5'-monophosphoramidase HINT2 (sprot)

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


zuclopenthixol

The (Z)-isomer of clopenthixol.


name: PRDM5_HUMAN PR domain zinc finger protein 5 (sprot)

description: A PR domain zinc finger protein 5 that is encoded in the genome of human.


name: SDHB_HUMAN Succinate dehydrogenase [ubiquinone] iron-sulfur subunit, mitochondrial (sprot)

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


vascular occlusion disorder

description: A disorder characterized by occlusion of blood vessels. It differs from thrombosis in that it can be used to describe any form of blockage, not just one formed by a clot.


name: BL1S1_HUMAN Biogenesis of lysosome-related organelles complex 1 subunit 1 (sprot)

description: A biogenesis of lysosome-related organelles complex 1 subunit 1 that is encoded in the genome of human.


phenoxymethylpenicillin

A penicillin compound having a 6beta-(phenoxyacetyl)amino side-chain.


name: E2F2_HUMAN Transcription factor E2F2 (sprot)

description: A transcription factor E2F2 that is encoded in the genome of human.


Paresthesia

description: Abnormal sensations such as tingling, pricking, or numbness of the skin with no apparent physical cause.


M-XYLENE

A xylene carrying methyl groups at positions 1 and 3.


ADIG_HUMAN Adipogenin (sprot)

An adipogenin that is encoded in the genome of human.


name: MYPC1_HUMAN Myosin-binding protein C, slow-type (sprot)

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


name: RL28_HUMAN Large ribosomal subunit protein eL28 (sprot)

description: A large ribosomal subunit protein eL28 that is encoded in the genome of human.


Kennedy disease

description: Kennedy's disease, also known as bulbospinal muscular atrophy (BSMA), is a rare X-linked recessive motor neuron disease characterized by proximal and bulbar muscle wasting.


name: CLDN1_HUMAN Claudin domain-containing protein 1 (sprot)

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


eumycotic mycetoma

description: A chronic granulomatous inflammation involving the deep dermis and the subcutaneous tissues. It is caused by fungi and actinomycetes.


dehydrocholic acid

An oxo-5beta-cholanic acid in which three oxo substituents are located at positions 3, 7 and 12 on the cholanic acid skeleton.


tropical spastic paraparesis

description: Tropical spastic paraparesis is a chronic systemic immune-mediated inflammatory myeloneuropathy, more frequently reported in women than in men, that usually presents in adulthood with slowly progressive spastic paraparesis of the lower limbs, bladder and bowel dysfunction, and sensory disturbances in the lower extremities (e.g. paresthesia and dysesthesia) and that is associated with a human T-cell lymphotropic virus type 1 (HTLV-1) infection.


SPTCS_HUMAN Spatacsin (sprot)

A spatacsin that is encoded in the genome of human.


name: ABCG4_HUMAN ATP-binding cassette sub-family G member 4 (sprot)

description: An ATP-binding cassette sub-family G member 4 that is encoded in the genome of human.


name: FBX44_HUMAN F-box only protein 44 (sprot)

description: An F-box only protein 44 that is encoded in the genome of human.


new-onset refractory status epilepticus

description: New-onset refractory status epilepticus is an acute encephalopathy with inflammation-mediated status epilepticus characterized by an acute refractory status epilepticus, typically of the tonic-clonic type, following prodromal symptoms of confusion, fever, fatigue, headache, symptoms of gastrointestinal or upper respiratory tract infection, behavioral changes or hallucinations. Brain MRI abnormalities and abnormal findings in CSF, including pleocytosis and/or elevated protein levels, are frequently found during acute episode. Treatment-resistant epilepsy, cognitive and psychiatric impairments are usual consequences.


name: AIP_HUMAN AH receptor-interacting protein (sprot)

description: An AH receptor-interacting protein that is encoded in the genome of human.


sorbinil

An azaspiro compound having a monofluoro-substituted chromane skeleton spiro-linked to an imidazolidinedione ring.