name: TCAM2_HUMAN TIR domain-containing adapter molecule 2 (sprot)

description: A TIR domain-containing adapter molecule 2 that is encoded in the genome of human.


name: KCNK1_HUMAN Potassium channel subfamily K member 1 (sprot)

description: A potassium channel subfamily K member 1 that is encoded in the genome of human.


doramapimod

A member of the class of pyrazoles that is an immunomodulator used for treatment of rheumatoid arthritis, Crohn's disease and psoriasis.


luminal B breast carcinoma

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

description: A biologic subset of breast carcinoma defined by low to moderate expression of genes characteristic of luminal epithelial cells including estrogen receptor (ER), and high expression of GGH, LAPTM4B, and CCNE1. This subtype of breast cancer is associated with a good prognosis, although not as favorable as the luminal A subtype.


name: SUCO_HUMAN SUN domain-containing ossification factor (sprot)

description: A SUN domain-containing ossification factor that is encoded in the genome of human.


gastroesophageal cancer

description: A gastrointestinal system cancer that is located in the proximal esophagus and the distal stomach.


sulfisoxazole

A sulfonamide antibacterial with an oxazole substituent. It has antibiotic activity against a wide range of gram-negative and gram-positive organisms.


name: PCAT1_HUMAN Lysophosphatidylcholine acyltransferase 1 (sprot)

description: A lysophosphatidylcholine acyltransferase 1 that is encoded in the genome of human.


PROTOCATECHUIC ACID

A dihydroxybenzoic acid in which the hydroxy groups are located at positions 3 and 4.


progeroid syndrome

description: A group of rare genetic disorders which mimic physiological aging, making affected individuals appear to be older than they are.


name: GPR34_HUMAN Probable G-protein coupled receptor 34 (sprot)

description: A probable G-protein coupled receptor 34 that is encoded in the genome of human.


Prolonged QT interval

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

description: Increased time between the start of the Q wave and the end of the T wave as measured by the electrocardiogram (EKG).


background diabetic retinopathy

description: An early stage of diabetic retinopathy that is characterized by retinal hemorrhage and exudate, but without proliferation of the blood vessels.


name: MUL1_HUMAN Mitochondrial ubiquitin ligase activator of NFKB 1 (sprot)

description: A mitochondrial ubiquitin ligase activator of NFKB 1 that is encoded in the genome of human.


name: PATE4_HUMAN Prostate and testis expressed protein 4 (sprot)

description: A prostate and testis expressed protein 4 that is encoded in the genome of human.


OGA_HUMAN Protein O-GlcNAcase (sprot)

A protein O-GlcNAcase that is encoded in the genome of human.


name: BRS3_HUMAN Bombesin receptor subtype-3 (sprot)

description: A bombesin receptor subtype-3 that is encoded in the genome of human.


uterine carcinosarcoma

description: A usually aggressive malignant neoplasm arising from the uterine corpus and less often the cervix. It is characterized by the presence of two components: a malignant epithelial component and a sarcomatous component. In the uterine corpus the epithelial component is usually glandular whereas in the cervix is usually non-glandular. Carcinosarcoma of the cervix, although it is aggressive, it may have a better prognosis compared to the uterine corpus carcinosarcoma.


phosphatidylcholine (16:0/22:5)

A phosphatidylcholine 38:5 in which the fatty acyl groups at positions 1 and 2 are specified as C16:0 and C22:5 respectively.


tertiary alcohol

A tertiary alcohol is a compound in which a hydroxy group, -OH, is attached to a saturated carbon atom which has three other carbon atoms attached to it.


Glycosuria

description: An increased concentration of glucose in the urine.


name: M3K3_HUMAN Mitogen-activated protein kinase kinase kinase 3 (sprot)

description: A mitogen-activated protein kinase kinase kinase 3 that is encoded in the genome of human.


Lupus anticoagulant

description: Presence of lupus anticoagulant (LA) autoantibodies. LA represent a heterogeneous group of autoantibodies, IgG, IgM, or a mixture of both classes, that interfere with standard phospholipid-based coagulant tests (this is only an in vitro phenomenon, LA do not cause reduction of coagulation in vivo). The antibodies are directed against plasma proteins which also bind to phospholipid surfaces.


name: CAPZB_HUMAN F-actin-capping protein subunit beta (sprot)

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


name: S13A4_HUMAN Solute carrier family 13 member 4 (sprot)

description: A solute carrier family 13 member 4 that is encoded in the genome of human.


ORML3_HUMAN ORM1-like protein 3 (sprot)

An ORM1-like protein 3 that is encoded in the genome of human.


phenprocoumon

A hydroxycoumarin that is 4-hydroxycoumarin which is substituted at position 3 by a 1-phenylpropyl group.


name: UBP27_HUMAN Ubiquitin carboxyl-terminal hydrolase 27 (sprot)

description: A ubiquitin carboxyl-terminal hydrolase 27 that is encoded in the genome of human.


name: CLH1_HUMAN Clathrin heavy chain 1 (sprot)

description: A clathrin heavy chain 1 that is encoded in the genome of human.


kojic acid

A pyranone that is 4H-pyran substituted by a hydroxy group at position 5, a hydroxymethyl group at position 2 and an oxo group at position 4. It has been isolated from the fungus Aspergillus oryzae.


TAGL_HUMAN Transgelin (sprot)

A transgelin that is encoded in the genome of human.


tubocurarine

A benzylisoquinoline alkaloid muscle relaxant which constitutes the active component of curare.


name: peripheral T-cell lymphoma, not otherwise specified

description: Aggressive nodal or extranodal mature (peripheral) T-cell lymphomas that do not belong to the better defined entities of the remainder of mature T-cell lymphomas. This category includes the following variants: lymphoepithelioid cell variant (Lennert's lymphoma), follicular variant, and T-zone variant.


invasive carcinoma

description: A carcinoma that is not confined to the epithelium, and has spread to the surrounding stroma.


name: MBNL3_HUMAN Muscleblind-like protein 3 (sprot)

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


TKNK_HUMAN Tachykinin-3 (sprot)

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


name: SRPX2_HUMAN Sushi repeat-containing protein SRPX2 (sprot)

description: A sushi repeat-containing protein SRPX2 that is encoded in the genome of human.


name: FARP2_HUMAN FERM, ARHGEF and pleckstrin domain-containing protein 2 (sprot)

description: A FERM, ARHGEF and pleckstrin domain-containing protein 2 that is encoded in the genome of human.


madecassoside

A triterpenoid saponin that is a trisaccharide derivative of madecassic acid. Isolated from    Centella asiatica, it exhibits anti-inflammatory, antioxidant and antirheumatic activities.


name: ISLR_HUMAN Immunoglobulin superfamily containing leucine-rich repeat protein (sprot)

description: An immunoglobulin superfamily containing leucine-rich repeat protein that is encoded in the genome of human.


nabiximols

A diverse group of pharmacologically active secondary metabolite characteristic to Cannabis plant as well as produced naturally in the body by humans and animals. Cannabinoids contain oxygen as a part of the heterocyclic ring or in the form of various functional groups. They are subdivided on the basis of their origin.


name: K1C19_HUMAN Keratin, type I cytoskeletal 19 (sprot)

description: A keratin, type I cytoskeletal 19 that is encoded in the genome of human.


name: CXA4_HUMAN Gap junction alpha-4 protein (sprot)

description: A gap junction alpha-4 protein that is encoded in the genome of human.


A member of the class of diazepinoindoles that is 1,2,3,4-tetrahydro[1,4]diazepino[6,7,1-hi]indole substituted by piperidin-1-ylcarbonyl, 4-(imidazo[1,2-a]pyridin-3-yl)-2,5-dioxo-2,5-dihydro-1H-pyrrol-3-yl and fluoro groups at position 2, 7 and 9, respectively. It is a potent ATP-competitive inhibitor of glycogen synthase kinase-3 (GSK-3) with IC50 values of 1.5 nM and 0.9 nM for GSK-3alpha and GSK-3beta. The drug is in clinical development for the treatment of advanced/metastatic cancer.


name: TLK1_HUMAN Serine/threonine-protein kinase tousled-like 1 (sprot)

description: A serine/threonine-protein kinase tousled-like 1 that is encoded in the genome of human.


name: KLF14_HUMAN Krueppel-like factor 14 (sprot)

description: A krueppel-like factor 14 that is encoded in the genome of human.


name: ZO3_HUMAN Tight junction protein ZO-3 (sprot)

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


PKP2_HUMAN Plakophilin-2 (sprot)

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


name: STYK1_HUMAN Tyrosine-protein kinase STYK1 (sprot)

description: A tyrosine-protein kinase STYK1 that is encoded in the genome of human.


name: TIP_HUMAN T-cell immunomodulatory protein (sprot)

description: A T-cell immunomodulatory protein that is encoded in the genome of human.


FZD10_HUMAN Frizzled-10 (sprot)

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


name: EXOS7_HUMAN Exosome complex component RRP42 (sprot)

description: An exosome complex component RRP42 that is encoded in the genome of human.


Capgras syndrome

description: A rare neuropsychiatric disorder whose primary feature is the delusion that relatives or close acquaintances are not the persons that they are known to be. Visual recognition appears intact but familiar persons are thought be imposters, that is, they appear similar or identical to known individuals but are not. Most cases are seen in the context of a psychotic state. However, if manifested post-traumatically, the cause is most likely due to neurologic impairment. This disorder should be contrasted with prosopagnosia, in which an individual may not recognize a familiar person at all.


Steroid-dependent nephrotic syndrome

description: A type of nephrotic syndrome in which two consecutive relapses (albumin urine dipstick at least 3+ or proteinuria greater than 40 mg/m2/d or urinary protein to creatinine ratio at least 2000 mg/g for 3 consecutive days) occur during corticosteroid therapy, or within 14 days of ceasing therapy.


pregnancy associated osteoporosis

description: A severe early presentation of osteoporosis in which young women experience low trauma or spontaneous fractures, most commonly vertebral fractures, during late pregnancy or lactation.


Imidazole substituted at position 4 by a methyl group.


name: EPHA4_HUMAN Ephrin type-A receptor 4 (sprot)

description: An ephrin type-A receptor 4 that is encoded in the genome of human.


name: ACKR1_HUMAN Atypical chemokine receptor 1 (sprot)

description: An atypical chemokine receptor 1 that is encoded in the genome of human.


DAB1_HUMAN Disabled homolog 1 (sprot)

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


melancholia

description: A subtype of depression characterized by the inability to find pleasure in positive things combined with physical agitation, insomnia, or decreased appetite.


name: RB_HUMAN Retinoblastoma-associated protein (sprot)

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


name: GBRG2_HUMAN Gamma-aminobutyric acid receptor subunit gamma-2 (sprot)

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


name: SRSF9_HUMAN Serine/arginine-rich splicing factor 9 (sprot)

description: A serine/arginine-rich splicing factor 9 that is encoded in the genome of human.


PFAPA syndrome

description: An auto inflammatory syndrome characterized by recurrent febrile episodes associated with aphthous stomatitis, pharyngitis and cervical adenitis.


name: S22A9_HUMAN Organic anion transporter 7 (sprot)

description: An organic anion transporter 7 that is encoded in the genome of human.


name: STP1_HUMAN Spermatid nuclear transition protein 1 (sprot)

description: A spermatid nuclear transition protein 1 that is encoded in the genome of human.


name: PNKP_HUMAN Bifunctional polynucleotide phosphatase/kinase (sprot)

description: A bifunctional polynucleotide phosphatase/kinase that is encoded in the genome of human.


name: SYTL1_HUMAN Synaptotagmin-like protein 1 (sprot)

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


microcephaly

description: A congenital or acquired developmental disorder in which the circumference of the head is smaller than normal for the person's age and sex.


name: ADRB3_HUMAN Beta-3 adrenergic receptor (sprot)

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


T-lymphoblastic lymphoma

description: The most frequent type of lymphoblastic lymphoma. It comprises approximately 85-90% of cases. It is more frequently seen in adolescent males. It frequently presents with a mass lesion in the mediastinum. Pleural effusions are common. (WHO, 2001)


ANO6_HUMAN Anoctamin-6 (sprot)

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


GENKWANIN

A monomethoxyflavone that is apigenin in which the hydroxy group at position 7 is methylated.


drug-induced hepatitis

description: Liver disease lasting six months or more, caused by an adverse drug effect. The adverse effect may result from a direct toxic effect of a drug or metabolite, or an idiosyncratic response to a drug or metabolite.


name: EFTU_HUMAN Elongation factor Tu, mitochondrial (sprot)

description: An elongation factor Tu, mitochondrial that is encoded in the genome of human.


name: CCL24_HUMAN C-C motif chemokine 24 (sprot)

description: A C-C motif chemokine 24 that is encoded in the genome of human.


A mononitronaphthalene substituted by a nitro group at position 1.


OSTN_HUMAN Osteocrin (sprot)

An osteocrin that is encoded in the genome of human.


name: AMOL2_HUMAN Angiomotin-like protein 2 (sprot)

description: An angiomotin-like protein 2 that is encoded in the genome of human.


lysophosphatidylglycerol

A glycerophosphoglycerol resulting from partial hydrolysis of a phosphatidylglycerol, which removes one of the fatty acid groups. The structure is depicted in the image where R1 = acyl, R2 = H or where R1 = H, R2 = acyl.


OLFM4_HUMAN Olfactomedin-4 (sprot)

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


Corneal opacity

description: A reduction of corneal clarity.


name: CLC1A_HUMAN C-type lectin domain family 1 member A (sprot)

description: A C-type lectin domain family 1 member A that is encoded in the genome of human.


name: TNR6A_HUMAN Trinucleotide repeat-containing gene 6A protein (sprot)

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


phosphatidylglycerol (18:1/17:1)

A phosphatidylglycerol 35:2 in which the acyl group at C-1 contains 18 carbons and 1 double bond while that at C-2 contains 17 carbons and 1 double bond.


name: PLPL2_HUMAN Patatin-like phospholipase domain-containing protein 2 (sprot)

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


cysticercosis

description: Cysticercosis is a parasitic infectious disease characterized by cyst formation in the target tissue of Taenia solium (tapeworm) parasite larvae ingested via the feces of a human with a tapeworm (human-to-human fecal-oral transmission) leading to variable clinical manifestations in muscle, the brain, spinal cord, and eyes. Infection of muscle tissue is generally asymptomatic. Cyst development in the brain and spinal cord is known as neurocysticercosis (NCC) and may cause seizures and headache. NCC can follow a serious course and may be life-threatening. Severe cases of cysticercosis are treated with albendazole and anti-inflammatory drugs.


ANGP4_HUMAN Angiopoietin-4 (sprot)

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


name: NPY1R_HUMAN Neuropeptide Y receptor type 1 (sprot)

description: A neuropeptide Y receptor type 1 that is encoded in the genome of human.


name: AOC3_HUMAN Amine oxidase [copper-containing] 3 (sprot)

description: A membrane primary amine oxidase that is encoded in the genome of human.


substance withdrawal syndrome

description: A substance-specific organic brain syndrome that follows the discontinuation of administration or use, or reduction in intake of a substance (including alcohol, prescribed medications and recreational drugs). Syndrome manifests with diverse, often painful physical and psychological symptoms, which include but not limited to intense drug craving, anxiety, depression, insomnia, nausea, perspiration, body aches, tremors, hallucinations, and convulsions.


aromatase deficiency

description: Aromatase deficiency disrupts the synthesis of estradiol, resulting in hirsutism of mothers during gestation of an affected child; pseudohermaphroditism and virilization in women; and tall stature, osteoporosis and obesity in men.


name: OXER1_HUMAN Oxoeicosanoid receptor 1 (sprot)

description: An oxoeicosanoid receptor 1 that is encoded in the genome of human.


name: INT6_HUMAN Integrator complex subunit 6 (sprot)

description: An integrator complex subunit 6 that is encoded in the genome of human.


name: RD23A_HUMAN UV excision repair protein RAD23 homolog A (sprot)

description: A UV excision repair protein RAD23 homolog A that is encoded in the genome of human.


name: MAGD2_HUMAN Melanoma-associated antigen D2 (sprot)

description: A melanoma-associated antigen D2 that is encoded in the genome of human.


name: NDST1_HUMAN Bifunctional heparan sulfate N-deacetylase/N-sulfotransferase 1 (sprot)

description: A bifunctional heparan sulfate N-deacetylase/N-sulfotransferase 1 that is encoded in the genome of human.


cryptomaldamide

A hybrid tripeptide from the marine cyanobacterium Moorea producens.


hemochromatosis type 1

description: Hemochromatosis type 1 (classic) is the most common form of hereditary hemochromatosis (HH), a group of diseases characterized by excessive tissue iron deposition. Due to its incidence (1/200-1/1000), it is not considered as a rare disease, unlike the other subforms of the disease


name: FGF14_HUMAN Fibroblast growth factor 14 (sprot)

description: A fibroblast growth factor 14 that is encoded in the genome of human.


tendinopathy

description: Disorders that are causes by overuse of tendons.


TXLNA_HUMAN Alpha-taxilin (sprot)

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


ADEC1_HUMAN ADAM DEC1 (sprot)

An ADAM DEC1 that is encoded in the genome of human.


DUOX1_HUMAN Dual oxidase 1 (sprot)

A dual oxidase 1 that is encoded in the genome of human.


name: KCNV2_HUMAN Potassium voltage-gated channel subfamily V member 2 (sprot)

description: A voltage-gated potassium channel KCNV2 that is encoded in the genome of human.


ikarugamycin

A polyketide macrolactam containing a tetramic acid (pyrrolidine-2,4-dione) ring system. It is isolated from Streptomyces as an antibiotic with  antiprotozoal and cytotoxic activities.


myocardial infarction

description: Gross necrosis of the myocardium, as a result of interruption of the blood supply to the area, as in coronary thrombosis.


name: EFHD1_HUMAN EF-hand domain-containing protein D1 (sprot)

description: An EF-hand domain-containing protein D1 that is encoded in the genome of human.


optic atrophy

description: A disorder characterized by loss of optic nerve fibers. It may be inherited or acquired. Acquired causes include ischemia, optic nerve neuropathy, glaucoma, trauma, radiation, brain tumors, and multiple sclerosis. It leads to vision disturbances.


RECO_HUMAN Recoverin (sprot)

A recoverin that is encoded in the genome of human.


TITIN_HUMAN Titin (sprot)

A titin that is encoded in the genome of human.


name: THB_HUMAN Thyroid hormone receptor beta (sprot)

description: A thyroid hormone receptor beta that is encoded in the genome of human.


intrahepatic cholangiocarcinoma

description: A carcinoma that arises from the intrahepatic bile duct epithelium in any site of the intrahepatic biliary tree. Grossly, the malignant lesions are solid, nodular, and grayish. Morphologically, the vast majority of cases are adenocarcinomas. Signs and symptoms include malaise, weight loss, right upper quadrant abdominal pain, and night sweats. Early detection is difficult and the prognosis is generally poor.


name: ARMC5_HUMAN Armadillo repeat-containing protein 5 (sprot)

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


FAS_HUMAN Fatty acid synthase (sprot)

A fatty acid synthase that is encoded in the genome of human.


West syndrome

description: West syndrome (or infantile spasms) is characterized by the association of clusters of axial spasms, psychomotor retardation and an hypsarrhythmic interictal EEG pattern. It is the most frequent type of epileptic encephalopathy. It may occur in otherwise healthy infants and in those with abnormal cognitive development.


paroxysmal Hemicrania

description: Paroxysmal hemicrania (PH) is a primary headache disorder characterized by multiple attacks of unilateral pain that occur in association with cranial autonomic symptoms. The hallmarks of this syndrome are the relative shortness of the attacks and the complete response to indomethacin therapy.


name: TIE1_HUMAN Tyrosine-protein kinase receptor Tie-1 (sprot)

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


name: PELI1_HUMAN E3 ubiquitin-protein ligase pellino homolog 1 (sprot)

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


C3 glomerulonephritis

description: Glomerulonephritis characterized by C3 accumulation with little or absent deposition of immunoglobulin, in the absence of ultrastructural electron-dense transformation seen in dense deposit disease.


DIBENZOYLMETHANE

A beta-diketone that is acetylacetone (acac) in which both methyl groups have been replaced by phenyl groups. It is a minor constituent of the root extract of licorice (Glycyrrhiza glabra) and exhibits antimutagenic and anticancer effects.


BENZETHONIUM CHLORIDE

A (synthetic) quaternary ammonium salt that is benzyldimethylamine in which the nitrogen is quaternised by a 2-{2-[p-(2,4,4-trimethylpentan-2-yl)phenoxy]ethoxy}ethyl group, with chloride as the counter-ion. An antiseptic and disinfectant, it is active against a broad spectrum of bacteria, fungi, moulds and viruses.


ergocalciferol

A vitamin D supplement and has been isolated from alfalfa.


bone disorder

description: Diseases of bones.


OPN5_HUMAN Opsin-5 (sprot)

An opsin-5 that is encoded in the genome of human.


phosphatidylcholine (16:1/22:6)

A phosphatidylcholine 38:7 in which the fatty acyl groups at positions 1 and 2 are specified as C16:1 and C22:6 respectively.


Hepatic amyloidosis

description: A form of amyloidosis that affects the liver.


ivabradine

A member of the class of benzazepines that is 7,8-dimethoxy-1,3,4,5-tetrahydro-3-benzazepin-2-one in which the amide hydrogen is replaced by a [{[(7S)-3,4-dimethoxybicyclo[4.2.0]octa-1,3,5-trien-7-yl]methyl}(methyl)amino]propyl} group. Used (as its hydrochloride salt) to treat patients with angina who have intolerance to beta blockers and/or heart failure.


name: DHX16_HUMAN Pre-mRNA-splicing factor ATP-dependent RNA helicase DHX16 (sprot)

description: A pre-mRNA-splicing factor ATP-dependent RNA helicase DHX16 that is encoded in the genome of human.


TKN4_HUMAN Tachykinin-4 (sprot)

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


cabotegravir

A monocarboxylic acid amide obtained by formal condensation of the carboxy group of (3S,11aR)-6-hydroxy-3-methyl-5,7-dioxo-2,3,5,7,11,11a-hexahydro[1,3]oxazolo[3,2-a]pyrido[1,2-d]pyrazine-8-carboxylic acid with the amino group of 2,4-difluorobenzylamine. Used (as its sodium salt) for treatment of HIV-1.


TAGATOSE

The straight-chain keto form of D-tagatose.


CROTONIC ACID

A but-2-enoic acid with a trans- double bond at C-2. It has been isolated from Daucus carota.


nimustine

An organochlorine compound that is urea in which the two hydrogens on one of the amino groups are replaced by nitroso and 2-chloroethyl groups and one hydrogen from the other amino group is replaced by a 4-amino-2-methylpyrimidin-5-ylmethyl] group. An antineoplastic agent especially effective against malignant brain tumors.


name: IGLL5_HUMAN Immunoglobulin lambda-like polypeptide 5 (sprot)

description: An immunoglobulin lambda-like polypeptide 5 that is encoded in the genome of human.


RCN3_HUMAN Reticulocalbin-3 (sprot)

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


SEM4G_HUMAN Semaphorin-4G (sprot)

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


oligodendroglioma

description: A well-differentiated (WHO grade II), diffusely infiltrating neuroglial tumor, typically located in the cerebral hemispheres. It is composed predominantly of cells which morphologically resemble oligodendroglia. The neoplastic cells have rounded homogeneous nuclei and, on paraffin sections, a swollen, clear cytoplasm ('honeycomb' appearance). (Adapted from WHO)


name: IF4E2_HUMAN Eukaryotic translation initiation factor 4E type 2 (sprot)

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


name: SYTC_HUMAN Threonine--tRNA ligase 1, cytoplasmic (sprot)

description: A threonine--tRNA ligase 1, cytoplasmic that is encoded in the genome of human.


potassium nitrate

The inorganic nitrate salt of potassium.


PRC2C_HUMAN Protein PRRC2C (sprot)

A protein PRRC2C that is encoded in the genome of human.


name: SHOC2_HUMAN Leucine-rich repeat protein SHOC-2 (sprot)

description: A leucine-rich repeat protein SHOC-2 that is encoded in the genome of human.


brivanib alinate

A carboxylic ester resulting from the formal condensation of the carboxy group of L-alanine with the hydroxy group of brivanib. It is a prodrug of brivanib (BMS-540215), a potent oral dual inhibitor of VEGFR-2 and FGFR-1 (IC50 of 25 nM and 148 nM, respectively) and was in development for the treatment of hepatocellular and colon carcinomas.


name: LZTS1_HUMAN Leucine zipper putative tumor suppressor 1 (sprot)

description: A leucine zipper putative tumor suppressor 1 that is encoded in the genome of human.


oxazepam

A 1,4-benzodiazepinone that is 1,3-dihydro-2H-1,4-benzodiazepin-2-one substituted by a chloro group at position 7, a hydroxy group at position 3 and phenyl group at position 5.


mental disorder

description: A disease that has its basis in the disruption of mental process.


IFNA2_HUMAN Interferon alpha-2 (sprot)

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


name: SNP23_HUMAN Synaptosomal-associated protein 23 (sprot)

description: A synaptosomal-associated protein 23 that is encoded in the genome of human.


WNT8A_HUMAN Protein Wnt-8a (sprot)

A protein Wnt-8a that is encoded in the genome of human.


cholecystitis

description: An acute or chronic inflammation involving the gallbladder wall. It may be associated with the presence of gallstones.


name: AK1C1_HUMAN Aldo-keto reductase family 1 member C1 (sprot)

description: An aldo-keto reductase family 1 member C1 that is encoded in the genome of human.


pristinamycin IA

A cyclodepsipeptide that is (together with pristinamycin IIA) a component of pristinamycin, an oral streptogramin antibiotic produced by Streptomyces pristinaespiralis. Pristinamycin exhibits bactericidal activity against Gram positive organisms including methicillin-resistant Staphylococcus aureus.


name: RS28_HUMAN Small ribosomal subunit protein eS28 (sprot)

description: A small ribosomal subunit protein eS28 that is encoded in the genome of human.


STX17_HUMAN Syntaxin-17 (sprot)

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


name: IP6K2_HUMAN Inositol hexakisphosphate kinase 2 (sprot)

description: An inositol hexakisphosphate kinase 2 that is encoded in the genome of human.


name: DPP9_HUMAN Dipeptidyl peptidase 9 (sprot)

description: A dipeptidyl peptidase 9 that is encoded in the genome of human.


angiomyolipoma

description: A neoplasm with perivascular epithelioid cell differentiation often associated with tuberous sclerosis. It is characterized by a mixture of epithelioid cells, smooth muscle, vessels, and mature adipose tissue. The kidney is the most common site of involvement. Other sites of involvement include the liver, lung, lymph nodes, and retroperitoneum. The vast majority of cases follow a benign clinical course. However, cases of metastatic angiomyolipomas with sarcomatoid features have been described.


name: FCRL5_HUMAN Fc receptor-like protein 5 (sprot)

description: An Fc receptor-like protein 5 that is encoded in the genome of human.


choroideremia

description: Choroideremia (CHM) is an X-linked chorioretinal dystrophy characterized by progressive degeneration of the choroid, retinal pigment epithelium (RPE) and retina.


name: CITE1_HUMAN Cbp/p300-interacting transactivator 1 (sprot)

description: A Cbp/p300-interacting transactivator 1 that is encoded in the genome of human.


name: PRP19_HUMAN Pre-mRNA-processing factor 19 (sprot)

description: A pre-mRNA-processing factor 19 that is encoded in the genome of human.


name: CDKL3_HUMAN Cyclin-dependent kinase-like 3 (sprot)

description: A cyclin-dependent kinase-like 3 that is encoded in the genome of human.


Behcet disease

description: A chronic, relapsing, multisystemic vasculitis characterized by mucocutaneous lesions, as well as articular, vascular, ocular and central nervous system manifestations.


name: PRPS2_HUMAN Ribose-phosphate pyrophosphokinase 2 (sprot)

description: A ribose-phosphate pyrophosphokinase 2 that is encoded in the genome of human.


oxane

A saturated organic heteromonocyclic parent that is cyclohexane in which one of the carbon atoms has been replaced by an oxygen atom.


name: FOXC1_HUMAN Forkhead box protein C1 (sprot)

description: A forkhead box protein C1 that is encoded in the genome of human.


dATP

A purine 2'-deoxyribonucleoside 5'-triphosphate having adenine as the nucleobase.


name: ZAR1_HUMAN Zygote arrest protein 1 (sprot)

description: A zygote arrest protein 1 that is encoded in the genome of human.


GIBBERELLIN A3

A C19-gibberellin that is a pentacyclic diterpenoid responsible for promoting growth and elongation of cells in plants.  Initially identified in Gibberella fujikuroi,it differs from gibberellin A1 in the presence of a double bond between C-3 and C-4.


name: RMD5B_HUMAN E3 ubiquitin-protein transferase RMND5B (sprot)

description: An E3 ubiquitin-protein transferase RMND5B that is encoded in the genome of human.


name: JIP1_HUMAN C-Jun-amino-terminal kinase-interacting protein 1 (sprot)

description: A C-Jun-amino-terminal kinase-interacting protein 1 that is encoded in the genome of human.


dermatitis herpetiformis

description: Dermatitis herpetiformis (DH) is a chronic autoimmune subepidermal bullous disease characterized by grouped pruritic lesions such as papules, urticarial plaques, erythema, and herpetiform vesiculae, with a predominantly symmetrical distribution on extensor surfaces of the elbows (90%), knees (30%), shoulders, buttocks, sacral region, and face of children and adults. Erosions, excoriations and hyperpigmentation usually follow. DH may also appear as a consequence of gluten intolerance.


name: acquired idiopathic inflammatory myopathy

description: An umbrella term for diseases which have chronic muscle inflammation and weakness of unknown etiology. The types of idiopathic inflammatory myopathy are further defined by either clinicopathologic criteria or by the presence of certain autoantibodies.


name: CHST1_HUMAN Carbohydrate sulfotransferase 1 (sprot)

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


name: SIX3_HUMAN Homeobox protein SIX3 (sprot)

description: A homeobox protein SIX3 that is encoded in the genome of human.


drug-induced vasculitis

description: A skin hypersensitivity reaction due to exposure to a pharmacologic substance that is characterized by raised purpuric lesions, red macules, hemorrhagic blisters and ulcerations.


GREM2_HUMAN Gremlin-2 (sprot)

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


10-hydroxycapric acid

A 10-carbon, omega-hydroxy fatty acid, shown to be the preferred hydroxylation product (together with the 9-OH isomer) of capric acid in biosystems, and used as a standard in lipid assays; reported to have cytotoxic effects.


name: ARI1B_HUMAN AT-rich interactive domain-containing protein 1B (sprot)

description: An AT-rich interactive domain-containing protein 1B that is encoded in the genome of human.


pleomorphic xanthoastrocytoma

description: A WHO grade ll astrocytic tumor with a relatively favorable prognosis. It is characterized by pleomorphic and lipidized cells expressing GFAP often surrounded by a reticulin network and eosinophilic granular bodies. It presents in the superficial cerebral hemispheres and involves the meninges. It typically affects children and young adults.


name: NCKX2_HUMAN Sodium/potassium/calcium exchanger 2 (sprot)

description: A sodium/potassium/calcium exchanger 2 that is encoded in the genome of human.


name: ST17B_HUMAN Serine/threonine-protein kinase 17B (sprot)

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


name: H2B1N_HUMAN Histone H2B type 1-N (sprot)

description: A histone H2B type 1-N that is encoded in the genome of human.


A phosphorodiamide that consists of 2-amino-1,3,2-oxazaphosphinan-4-ol 2-oxide having two 2-chloroethyl groups attached to the exocyclic nitrogen.


CLTRN_HUMAN Collectrin (sprot)

A collectrin that is encoded in the genome of human.


name: PTAFR_HUMAN Platelet-activating factor receptor (sprot)

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


name: POPD2_HUMAN Popeye domain-containing protein 2 (sprot)

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


name: OPRD_HUMAN Delta-type opioid receptor (sprot)

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


benzatropine

Tropane in which a hydrogen at position 3 is substituted by a diphenylmethoxy group (endo-isomer). An acetylcholine receptor antagonist, it is used (particularly as its methanesulphonate salt) in the treatment of Parkinson's disease, and to reduce parkinsonism and akathisia side effects of antipsychotic treatments.


name: ARHG2_HUMAN Rho guanine nucleotide exchange factor 2 (sprot)

description: A Rho guanine nucleotide exchange factor 2 that is encoded in the genome of human.


name: TRIM9_HUMAN E3 ubiquitin-protein ligase TRIM9 (sprot)

description: An E3 ubiquitin-protein ligase TRIM9 that is encoded in the genome of human.


name: T2FA_HUMAN General transcription factor IIF subunit 1 (sprot)

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


name: ING3_HUMAN Inhibitor of growth protein 3 (sprot)

description: An inhibitor of growth protein 3 that is encoded in the genome of human.


name: HEAT3_HUMAN HEAT repeat-containing protein 3 (sprot)

description: A HEAT repeat-containing protein 3 that is encoded in the genome of human.


name: PDLI2_HUMAN PDZ and LIM domain protein 2 (sprot)

description: A PDZ and LIM domain protein 2 that is encoded in the genome of human.


name: AASS_HUMAN Alpha-aminoadipic semialdehyde synthase, mitochondrial (sprot)

description: An alpha-aminoadipic semialdehyde synthase, mitochondrial that is encoded in the genome of human.


name: I23O2_HUMAN Indoleamine 2,3-dioxygenase 2 (sprot)

description: An indoleamine 2,3-dioxygenase 2 that is encoded in the genome of human.


A member of the class of benzodiazepines that is 2,3,4,5-tetrahydro-1H-1,4-benzodiazepine substituted by (1H-imidazol-5-yl)methyl, benzyl, (thiophen-2-yl)sulfonyl, and cyano groups at positions 1, 3R, 4 and 7, respectively. It is a potent inhibitor of farnesyltransferase (IC50 = 1.35nM) which was under clinical development for the treatment of solid tumors.


name: RBM39_HUMAN RNA-binding protein 39 (sprot)

description: An RNA-binding protein 39 that is encoded in the genome of human.


3-HYDROXYBENZOIC ACID

A monohydroxybenzoic acid that is benzoic acid substituted by a hydroxy group at position 3. It has been isolated from Taxus baccata. It is used as an intermediate in the synthesis of plasticisers, resins, pharmaceuticals, etc.


CARBENDAZIM

A member of the class of benzimidazoles that is 2-aminobenzimidazole in which the primary amino group is substituted by a methoxycarbonyl group. A fungicide, carbendazim controls  Ascomycetes, Fungi Imperfecti, and Basidiomycetes on a wide variety of crops, including bananas, cereals, cotton, fruits, grapes, mushrooms, ornamentals, peanuts, sugarbeet, soybeans, tobacco, and vegetables.


MYH8_HUMAN Myosin-8 (sprot)

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


name: CKAP2_HUMAN Cytoskeleton-associated protein 2 (sprot)

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


succinic acid

An alpha,omega-dicarboxylic acid resulting from the formal oxidation of each of the terminal methyl groups of butane to the corresponding carboxy group. It is an intermediate metabolite in the citric acid cycle.


TERT-BUTANOL

A tertiary alcohol alcohol that is isobutane substituted by a hydroxy group at position 2.


butorphanol

Levorphanol in which a hydrogen at position 14 of the morphinan skeleton is substituted by hydroxy and one of the hydrogens of the N-methyl group is substituted by cyclopropyl. A semi-synthetic opioid agonist-antagonist analgesic, it is used as its (S,S)-tartaric acid salt for relief or moderate to severe pain.


clomipramine

A dibenzoazepine that is 10,11-dihydro-5H-dibenzo[b,f]azepine which is substituted by chlorine at position 3 and in which the hydrogen attached to the nitrogen is replaced by a 3-(dimethylamino)propyl group. One of the more sedating tricyclic antidepressants, it is used as the hydrochloride salt for the treatment of depression as well as obsessive-compulsive disorder and phobias.


IgE responsiveness, atopic

description: Immediate hypersensitivity reaction - type I reaction, involves immunoglobulin E (IgE)-mediated release of chemical mediators from mast cells and basophils. Th2 cells produce IL-4 and IL-13, which then act on B cells to promote the production of antigen-specific IgE. Reexposure to the antigen can then result in the antigen binding to and cross-linking the bound IgE antibodies on the mast cells and basophils. This causes the release of preformed mediators (histamine, tryptase, tryptase, chemotactic factors), newly synthesized mediators (leukotrienes, prostaglandin, thromboxane, platelet-activating factor, adenosine, bradykinin), and cytokines from these cells that results in structural and functional changes to the affected tissue.


vidarabine

A purine nucleoside in which adenine is attached to arabinofuranose via a beta-N(9)-glycosidic bond.


MT3_HUMAN Metallothionein-3 (sprot)

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


name: PE2R1_HUMAN Prostaglandin E2 receptor EP1 subtype (sprot)

description: A prostaglandin E2 receptor EP1 subtype that is encoded in the genome of human.


name: STK24_HUMAN Serine/threonine-protein kinase 24 (sprot)

description: A serine/threonine-protein kinase 24 that is encoded in the genome of human.


PAEP_HUMAN Glycodelin (sprot)

A glycodelin that is encoded in the genome of human.


name: LYNX1_HUMAN Ly-6/neurotoxin-like protein 1 (sprot)

description: An Ly-6/neurotoxin-like protein 1 that is encoded in the genome of human.


A 2-methoxy-N-[3-[4-[3-methyl-4-[(6-methyl-3-pyridinyl)oxy]anilino]-6-quinazolinyl]prop-2-enyl]acetamide in which the double bond adopts a trans-configuration. It is a potent inhibitor of HER2/ErbB2 (IC50 = 10 nM) and exhibits anti-cancer activity.


name: POTE1_HUMAN Protection of telomeres protein 1 (sprot)

description: A protection of telomeres protein 1 that is encoded in the genome of human.


SDC2_HUMAN Syndecan-2 (sprot)

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


name: RS13_HUMAN Small ribosomal subunit protein uS15 (sprot)

description: A eukaryotic-type small ribosomal subunit protein uS15 that is encoded in the genome of human.


name: MTO1_HUMAN Protein MTO1 homolog, mitochondrial (sprot)

description: A protein MTO1, mitochondrial that is encoded in the genome of human.


Bartter syndrome

description: Bartter syndrome is a group of rare renal tubular disease characterized by impaired salt reabsorption in the thick ascending limb of Henle's loop and clinically by the association of hypokalemic alkalosis, hypercalciuria/nephrocalcinosis, increased levels of plasma renin and aldosterone, low blood pressure and vascular resistance to angiotensin II.


name: SCN8A_HUMAN Sodium channel protein type 8 subunit alpha (sprot)

description: A sodium channel protein type 8 subunit alpha that is encoded in the genome of human.


name: VAMP3_HUMAN Vesicle-associated membrane protein 3 (sprot)

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


primary congenital glaucoma

description: Primary congenital glaucoma (PCG) is characterized by elevated intraocular pressure (IOP), enlargement of the globe (buphthalmos), edema, and opacification of the cornea with rupture of Descemet's membrane (Haab's striae), thinning of the anterior sclera and iris atrophy, anomalously deep anterior chamber, and structurally normal posterior segment except for progressive glaucomatous optic atrophy. Symptoms include photophobia, blepharospasm, and excessive tearing. Typically, the diagnosis is made in the first year of life. Depending on when treatment is instituted, visual acuity may be reduced and/or visual fields may be restricted. In untreated individuals, blindness invariably occurs.


name: RL3R1_HUMAN Relaxin-3 receptor 1 (sprot)

description: A relaxin-3 receptor 1 that is encoded in the genome of human.


name: STAR7_HUMAN StAR-related lipid transfer protein 7, mitochondrial (sprot)

description: A StAR-related lipid transfer protein 7, mitochondrial that is encoded in the genome of human.


name: MAD3_HUMAN Max dimerization protein 3 (sprot)

description: A max dimerization protein 3 that is encoded in the genome of human.


name: ACOT1_HUMAN Acyl-coenzyme A thioesterase 1 (sprot)

description: An acyl-coenzyme A thioesterase 1 that is encoded in the genome of human.


name: DUS28_HUMAN Dual specificity phosphatase 28 (sprot)

description: A dual specificity phosphatase 28 that is encoded in the genome of human.


name: ABCB6_HUMAN ATP-binding cassette sub-family B member 6 (sprot)

description: An ATP-binding cassette sub-family B member 6 that is encoded in the genome of human.


name: IFI44_HUMAN Interferon-induced protein 44 (sprot)

description: An interferon-induced protein 44 that is encoded in the genome of human.


RASK_HUMAN GTPase KRas (sprot)

A GTPase KRas that is encoded in the genome of human.


name: S39A7_HUMAN Zinc transporter SLC39A7 (sprot)

description: A zinc transporter SLC39A7 that is encoded in the genome of human.


name: CDC23_HUMAN Cell division cycle protein 23 homolog (sprot)

description: A cell division cycle protein 23 that is encoded in the genome of human.


diverticulitis of colon

description: Inflammation of the colonic diverticula, generally with abscess formation and subsequent perforation.


name: SOX1_HUMAN Transcription factor SOX-1 (sprot)

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


MYRISTOLEIC ACID

A tetradecenoic acid in which the double bond is at the 9-10 position and has Z configuration. Myristoleic acid has been isolated from Serenoa repens and has cytotoxic and apoptosis-inducing effects.


name: NFAC2_HUMAN Nuclear factor of activated T-cells, cytoplasmic 2 (sprot)

description: A nuclear factor of activated T-cells, cytoplasmic 2 that is encoded in the genome of human.


name: COX5B_HUMAN Cytochrome c oxidase subunit 5B, mitochondrial (sprot)

description: A cytochrome c oxidase subunit 5B, mitochondrial that is encoded in the genome of human.


F168A_HUMAN Protein FAM168A (sprot)

A protein FAM168A that is encoded in the genome of human.


PTHY_HUMAN Parathyroid hormone (sprot)

A parathyroid hormone that is encoded in the genome of human.


guttate psoriasis

description: Guttate psoriasis is a skin condition in which small, red, and scaly teardrop-shaped spots appear on the arms, legs, and middle of the body.It is a relatively uncommon form of psoriasis. The condition often develops very suddenly, and is usually triggered by an infection (e.g., strep throat, bacteria infection, upper respiratory infections or other viral infections). Other triggers include injury to the skin, including cuts, burns, and insect bites, certain malarial and heart medications, stress, sunburn, and excessive alcohol consumption. Treatment depends on the severity of the symptoms, ranging from at-home over the counter remedies to medicines that suppress the body's immunesystem to sunlight and phototherapy.


secretory diarrhea

description: Watery voluminous diarrhea resulting from an imbalance between ion and water secretion and absorption.


germ cell tumor

description: A benign or malignant, gonadal or extragonadal neoplasm that originates from germ cells. Representative examples include teratoma, seminoma, embryonal carcinoma, and yolk sac tumor.


DESM_HUMAN Desmin (sprot)

A desmin that is encoded in the genome of human.


Increased circulating antibody level

description: An increased level of gamma globulin (immunoglobulin) in the blood.


name: SG3A1_HUMAN Secretoglobin family 3A member 1 (sprot)

description: A secretoglobin family 3A member 1 that is encoded in the genome of human.


dihydroergocristine

Ergocristine in which a single bond replaces the double bond between positions 9 and 10. It is used as the mesylate salt for the symptomatic treatment of mental deterioration associated with cerebrovascular insufficiency and in peripheral vascular disease.


optic papillitis

description: Swelling of the optic disk, usually in association with increased intracranial pressure, characterized by hyperemia, blurring of the disk margins, microhemorrhages, blind spot enlargement, and engorgement of retinal veins. Chronic papilledema may cause optic atrophy and visual loss. (Miller et al., Clinical Neuro-Ophthalmology, 4th ed, p175)


name: HXC6_HUMAN Homeobox protein Hox-C6 (sprot)

description: A homeobox protein Hox-C6 that is encoded in the genome of human.


name: PPAC_HUMAN Low molecular weight phosphotyrosine protein phosphatase (sprot)

description: A low molecular weight phosphotyrosine protein phosphatase that is encoded in the genome of human.


name: TRIM6_HUMAN Tripartite motif-containing protein 6 (sprot)

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


name: MGN2_HUMAN Protein mago nashi homolog 2 (sprot)

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


name: KMT2D_HUMAN Histone-lysine N-methyltransferase 2D (sprot)

description: A histone-lysine N-methyltransferase 2D that is encoded in the genome of human.


name: TNR9_HUMAN Tumor necrosis factor receptor superfamily member 9 (sprot)

description: A tumor necrosis factor receptor superfamily member 9 that is encoded in the genome of human.


name: leucine-rich repeat-containing protein 29 (human)

description: A leucine-rich repeat-containing protein 29 that is encoded in the genome of human.


favism

description: A condition associated with glucose-6-phosphate dehydrogenase deficiency, which is characterized by hemolysis.


progressive myoclonus epilepsy

description: A rare group of disorders characterized by the development of myoclonic and tonic-clonic epileptic seizures associated with progressive degeneration of the nervous system.


diacylglycerol (18:1/0:0/18:1)

A 1,3-diglyceride in which both acyl groups contain 18 carbons and 1 double bond.


QUINAZOLINE

A mancude organic heterobicyclic parent that is naphthalene in which the carbon atoms at positions 1 and 3 have been replaced by nitrogen atoms.


PIDOLIC ACID

An optically active form of 5-oxoproline having L-configuration.


alcoholic pancreatitis

description: Acute or chronic inflammation of the pancreas due to excessive alcohol drinking. Alcoholic pancreatitis usually presents as an acute episode but it is a chronic progressive disease in alcoholics.


myoclonic-astatic epilepsy

description: Myoclonic Astatic Epilepsy (MAE) is a rare epilepsy syndrome of childhood characterized by the occurrence of multiple different seizure types including myoclonic-astatic, generalized tonic-clonic and absence seizures, usually in previously healthy children.


acetyl

An organic radical derived from  acetaldehyde.


name: ACOT8_HUMAN Acyl-coenzyme A thioesterase 8 (sprot)

description: An acyl-coenzyme A thioesterase 8 that is encoded in the genome of human.


tizanidine

2,1,3-Benzothiadiazole substituted at C-4 by a Delta(1)-imidazolin-2-ylamino group and at C-4 by a chloro group.  It is an agonist at alpha2-adrenergic receptor sites.


glossitis

description: Inflammation of the tongue.


Cowden disease

description: A genodermatosis characterized by the presence of multiple hamartomas in various tissues and an increased risk for malignancies of the breast, thyroid, endometrium, kidney and colorectum. When CS is accompanied by germline PTEN mutations, it belongs to the PTEN hamartoma tumor syndrome (PHTS) group.


fructose

A ketohexose that is an isomer of glucose.


name: GDE1_HUMAN Glycerophosphodiester phosphodiesterase 1 (sprot)

description: A glycerophosphodiester phosphodiesterase 1 that is encoded in the genome of human.


description: Progressive multifocal leukoencephalopathy (PML) is a neurological disorder that damages the myelin that covers and protects nerves in the white matter of the brain. It is caused by the JC virus (JCV). By age 10, most people have been infected with this virus, but itrarelycauses symptoms unless the immune system becomes severely weakened.The disease occurs, rarely, in organ transplant patients; people undergoing chronic corticosteroid or immunosuppressive therapy; and individuals with cancer, such as Hodgkins disease, lymphoma, and sarcoidosis. PML is most common among individuals with acquired immune deficiency syndrome (AIDS).


radial neuropathy

description: Disease involving the radial nerve. Clinical features include weakness of elbow extension, elbow flexion, supination of the forearm, wrist and finger extension, and thumb abduction. Sensation may be impaired over regions of the dorsal forearm. Common sites of compression or traumatic injury include the axilla and radial groove of the humerus.


name: TACC1_HUMAN Transforming acidic coiled-coil-containing protein 1 (sprot)

description: A transforming acidic coiled-coil-containing protein 1 that is encoded in the genome of human.


name: ZACN_HUMAN Ligand-gated cation channel ZACN (sprot)

description: A zinc-activated ligand-gated ion channel that is encoded in the genome of human.


chronic wasting disease

description: A transmissible spongiform encephalopathy (prion disease) of deer and elk characterized by chronic weight loss leading to death. It is thought to spread by direct contact between animals or through environmental contamination with the prion protein (prions).


dentatorubral-pallidoluysian atrophy

description: Dentatorubral pallidoluysian atrophy (DRPLA) is a rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by involuntary movements, ataxia, epilepsy, mental disorders, cognitive decline and prominent anticipation.


Recurrent fever

description: Periodic (episodic or recurrent) bouts of fever.


name: BTBD7_HUMAN BTB/POZ domain-containing protein 7 (sprot)

description: A BTB/POZ domain-containing protein 7 that is encoded in the genome of human.


name: LRP8_HUMAN Low-density lipoprotein receptor-related protein 8 (sprot)

description: A low-density lipoprotein receptor-related protein 8 that is encoded in the genome of human.


eye disorder

description: A non-neoplastic or neoplastic disorder that affects the eye. Representative examples include conjunctivitis, glaucoma, cataract, conjunctival squamous cell carcinoma, uveal melanoma, and retinoblastoma.


pneumococcal meningitis

description: An acute purulent infection of the meninges and subarachnoid space caused by Streptococcus pneumoniae, most prevalent in children and adults over the age of 60. This illness may be associated with otitis media; mastoiditis; sinusitis; respiratory tract infections; sickle cell disease (anemia, sickle cell); skull fractures; and other disorders. Clinical manifestations include fever; headache; neck stiffness; and somnolence followed by seizures; focal neurologic deficits (notably deafness); and coma. (From Miller et al., Merritt's Textbook of Neurology, 9th ed, p111)


name: RIMS3_HUMAN Regulating synaptic membrane exocytosis protein 3 (sprot)

description: A regulating synaptic membrane exocytosis protein 3 that is encoded in the genome of human.


diosmetin

A monomethoxyflavone that is the 4'-methyl ether derivative of luteolin. It is a natural product isolated from citrus fruits which exhibits a range of pharmacological activities.


name: TAM41_HUMAN Phosphatidate cytidylyltransferase, mitochondrial (sprot)

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


name: TRI10_HUMAN Tripartite motif-containing protein 10 (sprot)

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


phosphatidylcholine (14:0/18:2)

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


name: CLCN2_HUMAN Chloride channel protein 2 (sprot)

description: A chloride channel protein 2 that is encoded in the genome of human.


name: SMAG1_HUMAN Protein Smaug homolog 1 (sprot)

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


SERP3_HUMAN Serpin E3 (sprot)

A serpin E3 that is encoded in the genome of human.


phosphatidylethanolamine (16:0/19:1)

A phosphatidylethanolamine 35:1 in which the acyl group at C-1 contains 16 carbons and no double bonds while that at C-2 contains 19 carbons and 1 double bond.


HERBACETIN

A pentahydroxyflavone that is kaempferol substituted by a hydroxy group at position 8. It is a natural flavonoid from flaxseed which exerts antioxidant, anti-inflammatory and anticancer activities.


extrahepatic bile duct carcinoma

description: A carcinoma that arises from epithelial cells of the extrahepatic bile duct.


Zika virus infectious disease

description: Mosquito-born virus disease characterized by a clinical course that may be asymptomatic or mild with fever, conjunctivitis, muscle and joint pain, headache, exanthema, but may also be associated with severe neurological (meningitis, meningoencephalitis and myelitis) and auto-immune (Guillain-Barre syndrome) complications, as well as a potential increase of birth defects (microcephaly) if the infection occurs during pregnancy.


practolol

N-(4-Hydroxyphenyl)acetamide in which the hydrogen of the phenolic hydroxy group is substituted by a 3-(isopropylaminoamino)-2-hydroxypropyl group. A selective beta blocker, it has been used in the emergency treatment of cardiac arrhythmias.


teduglutide

A 33-membered polypeptide consisting of His, Gly, Asp, Gly, Ser, Phe, Ser, Asp, Glu, Met, Asn, Thr, Ile, Leu, Asp, Asn, Leu, Ala, Ala, Arg, Asp, Phe, Ile, Asn, Trp, Leu, Ile, Gln, Thr, Lys, Ile, Thr and Asp residues joined in sequence. A  glucagon-like peptide-2 receptor agonist used for the treatment of short-bowel syndrome.


name: TRI67_HUMAN Tripartite motif-containing protein 67 (sprot)

description: A tripartite motif-containing protein 67 that is encoded in the genome of human.


name: SNP47_HUMAN Synaptosomal-associated protein 47 (sprot)

description: A synaptosomal-associated protein 47 that is encoded in the genome of human.


name: ADA2A_HUMAN Alpha-2A adrenergic receptor (sprot)

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


name: GARE1_HUMAN GRB2-associated and regulator of MAPK protein 1 (sprot)

description: A GRB2-associated and regulator of MAPK protein 1 that is encoded in the genome of human.


iomeprol

A benzenedicarboxamide compound having N-substituted carbamoyl groups at the 1- and 3-positions, iodo substituents at the 2-, 4- and 6-positions and a glycoloyl(methyl)amino group at the 5-position.


uremic neuropathy

description: Neuropathy resulting from uremia.


name: OSB10_HUMAN Oxysterol-binding protein-related protein 10 (sprot)

description: An oxysterol-binding protein-related protein 10 that is encoded in the genome of human.


name: I20RA_HUMAN Interleukin-20 receptor subunit alpha (sprot)

description: An interleukin-20 receptor subunit alpha that is encoded in the genome of human.


name: TCEA1_HUMAN Transcription elongation factor A protein 1 (sprot)

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


ATX2_HUMAN Ataxin-2 (sprot)

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


name: DNJA1_HUMAN DnaJ homolog subfamily A member 1 (sprot)

description: A DnaJ homolog subfamily A member 1 that is encoded in the genome of human.


dedifferentiated liposarcoma

description: A high-grade subtype of liposarcoma (LS) that progresses from well-differentiated liposarcoma (WDLS), and most often occurs in the retroperitoneum. It is defined as a region of nonlipogenic sarcoma associated with WDLS.


name: RB3GP_HUMAN Rab3 GTPase-activating protein catalytic subunit (sprot)

description: A Rab3 GTPase-activating protein catalytic subunit that is encoded in the genome of human.


phosphatidylcholine (18:2/20:4)

A phosphatidylcholine 38:6 in which the fatty acyl groups at positions 1 and 2 are specified as C18:2 and C20:4 respectively.


rhegmatogenous retinal detachment

description: Retinal detachment secondary to retinal tear or break.


chronic gastritis

description: Inflammation of the stomach that is chronic in nature.


name: ENPP3_HUMAN Ectonucleotide pyrophosphatase/phosphodiesterase family member 3 (sprot)

description: An ectonucleotide pyrophosphatase/phosphodiesterase family member 3 that is encoded in the genome of human.


name: THOC1_HUMAN THO complex subunit 1 (sprot)

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


CREST syndrome

description: CREST syndrome is a subtype of limited cutaneous systemic sclerosis (lcSSc) whose name is an acronym for the cardinal clinical features of the syndrome: calcinosis, Raynaud's phenomenon, esophageal dysmotility, sclerodactyly and telangiectasia.


FAM3A_HUMAN Protein FAM3A (sprot)

A protein FAM3A that is encoded in the genome of human.


name: MSHR_HUMAN Melanocyte-stimulating hormone receptor (sprot)

description: A melanocyte-stimulating hormone receptor that is encoded in the genome of human.


phosphatidylcholine (P-16:0/22:6)

A phosphatidylcholine P-38:6 in which the 1-alk-1-enyl group contains 16 carbons and no additional double bonds while the 2-acyl group contains 22 carbons and 6 double bonds.


name: ATG4B_HUMAN Cysteine protease ATG4B (sprot)

description: A cysteine protease ATG4B that is encoded in the genome of human.


OXYPURINOL

A  pyrazolopyrimidine that is 4,5,6,7-tetrahydro-H-pyrazolo[3,4-d]pyrimidine substituted by oxo groups at positions 4 and 6.


crush syndrome

description: A medical condition characterized by major shock and renal failure after a crushing injury to skeletal muscle.


name: S35A2_HUMAN UDP-galactose translocator (sprot)

description: A UDP-galactose translocator that is encoded in the genome of human.


name: CAR14_HUMAN Caspase recruitment domain-containing protein 14 (sprot)

description: A caspase recruitment domain-containing protein 14 that is encoded in the genome of human.


SYNE2_HUMAN Nesprin-2 (sprot)

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


PYROGALLOL

A  benzenetriol carrying hydroxy groups at positions 1, 2 and 3.


name: NPAS2_HUMAN Neuronal PAS domain-containing protein 2 (sprot)

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


name: UBA6_HUMAN Ubiquitin-like modifier-activating enzyme 6 (sprot)

description: A ubiquitin-like modifier-activating enzyme 6 that is encoded in the genome of human.


name: TRIP6_HUMAN Thyroid receptor-interacting protein 6 (sprot)

description: A thyroid receptor-interacting protein 6 that is encoded in the genome of human.


name: KIF15_HUMAN Kinesin-like protein KIF15 (sprot)

description: A kinesin-like protein KIF15 that is encoded in the genome of human.


name: NKX61_HUMAN Homeobox protein Nkx-6.1 (sprot)

description: A homeobox protein Nkx-6.1 that is encoded in the genome of human.


AMBN_HUMAN Ameloblastin (sprot)

An ameloblastin that is encoded in the genome of human.


linaclotide

A fourteen-membered heterodetic cyclic peptide consisting of Cys, Cys, Glu, Tyr, Cys, Cys, Asn, Pro, Ala, Cys, Thr, Gly, Cys and Tyr residues joined in sequence and cyclised by three disulfide bonds: between Cys(1) and Cys(6), between Cys(2) and Cys(10), and between Cys(5) and Cys(13). Used for treatment of irritable bowel syndrome accompanied by constipation.


name: COX7R_HUMAN Cytochrome c oxidase subunit 7A-related protein, mitochondrial (sprot)

description: A cytochrome c oxidase subunit 7A-related protein, mitochondrial that is encoded in the genome of human.


nevoid basal cell carcinoma syndrome

description: A rare hereditary disorder due to autosomal dominant transmission with hamartosis characterized by multiple early-onset basal cell carcinoma (BCC), multiple jaw keratocysts and skeletal abnormalities.


name: PAR10_HUMAN Protein mono-ADP-ribosyltransferase PARP10 (sprot)

description: A protein mono-ADP-ribosyltransferase PARP10 that is encoded in the genome of human.


name: CHD5_HUMAN Chromodomain-helicase-DNA-binding protein 5 (sprot)

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


name: NXF1_HUMAN Nuclear RNA export factor 1 (sprot)

description: A nuclear RNA export factor 1 that is encoded in the genome of human.


name: FBX43_HUMAN F-box only protein 43 (sprot)

description: An F-box only protein 43 that is encoded in the genome of human.


name: ASCL2_HUMAN Achaete-scute homolog 2 (sprot)

description: An achaete-scute homolog 2 that is encoded in the genome of human.


name: OSR1_HUMAN Protein odd-skipped-related 1 (sprot)

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


name: HXB3_HUMAN Homeobox protein Hox-B3 (sprot)

description: A homeobox protein Hox-B3 that is encoded in the genome of human.


name: PLCL1_HUMAN Inactive phospholipase C-like protein 1 (sprot)

description: An inactive phospholipase C-like protein 1 that is encoded in the genome of human.


name: NONO_HUMAN Non-POU domain-containing octamer-binding protein (sprot)

description: A non-POU domain-containing octamer-binding protein that is encoded in the genome of human.


name: ADCY6_HUMAN Adenylate cyclase type 6 (sprot)

description: An adenylate cyclase type 6 that is encoded in the genome of human.


name: TRI44_HUMAN Tripartite motif-containing protein 44 (sprot)

description: A tripartite motif-containing protein 44 that is encoded in the genome of human.


disorder of glycogen metabolism

description: An inherited metabolic disorder characterized either by defects in glycogen synthesis or defects in the breaking down of glycogen. It results either in the creation of abnormal forms of glycogen or accumulation of glycogen in the tissues.


name: CSF2R_HUMAN Granulocyte-macrophage colony-stimulating factor receptor subunit alpha (sprot)

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


Alzheimer disease 2

description: An Alzheimer's disease that is characterized by an association of the apolipoprotein E E4 allele.


name: DHR11_HUMAN Dehydrogenase/reductase SDR family member 11 (sprot)

description: A dehydrogenase/reductase SDR family member 11 that is encoded in the genome of human.


name: MO4L1_HUMAN Mortality factor 4-like protein 1 (sprot)

description: A mortality factor 4-like protein 1 that is encoded in the genome of human.


name: SPT6H_HUMAN Transcription elongation factor SPT6 (sprot)

description: A transcription elongation factor SPT6 that is encoded in the genome of human.


primary systemic amyloidosis

description: Primary systemic amyloidosis (PSA) is a form of AL amyloidosis caused by the aggregation and deposition of insoluble amyloid fibrils derived from misfolded monoclonal immunoglobulin light chains usually produced by a plasma cell tumor and characterized by multiple organ involvement.


name: TRPM5_HUMAN Transient receptor potential cation channel subfamily M member 5 (sprot)

description: A transient receptor potential cation channel subfamily M member 5 that is encoded in the genome of human.


FLCN_HUMAN Folliculin (sprot)

A folliculin that is encoded in the genome of human.


CAP7_HUMAN Azurocidin (sprot)

An azurocidin that is encoded in the genome of human.


glucose-galactose malabsorption

description: Glucose-galactose malabsorption (GGM) is a very rare, potentially lethal, genetic metabolic disease characterized by impaired glucose-galactose absorption resulting in severe watery diarrhea and dehydration with onset inthe neonatal period.


name: DNJB9_HUMAN DnaJ homolog subfamily B member 9 (sprot)

description: A DnaJ homolog subfamily B member 9 that is encoded in the genome of human.


name: GBG2_HUMAN Guanine nucleotide-binding protein G(I)/G(S)/G(O) subunit gamma-2 (sprot)

description: A guanine nucleotide-binding protein G(I)/G(S)/G(O) subunit gamma-2 that is encoded in the genome of human.


hypersensitivity pneumonitis

description: Hypersensitivity pneumonitis (HP) is a pulmonary disease with symptoms of dyspnea and cough resulting from the inhalation of an antigen to which the subject has been previously sensitized.


name: progressive familial intrahepatic cholestasis

description: Progressive familial intrahepatic cholestasis (PFIC) refers to a heterogeneous group of autosomal recessive disorders of childhood that disrupt bile formation and present with cholestasis of hepatocellular origin.


name: TRI47_HUMAN E3 ubiquitin-protein ligase TRIM47 (sprot)

description: An E3 ubiquitin-protein ligase TRIM47 that is encoded in the genome of human.


name: CLM1_HUMAN CMRF35-like molecule 1 (sprot)

description: A CMRF35-like molecule 1 that is encoded in the genome of human.


name: GTPB1_HUMAN GTP-binding protein 1 (sprot)

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


name: APEX2_HUMAN DNA-(apurinic or apyrimidinic site) endonuclease 2 (sprot)

description: A DNA-(apurinic or apyrimidinic site) endonuclease 2 that is encoded in the genome of human.


name: APC4_HUMAN Anaphase-promoting complex subunit 4 (sprot)

description: An anaphase-promoting complex subunit 4 that is encoded in the genome of human.


name: malignant migrating partial seizures of infancy

description: A very rare severe form of epilepsy with poor prognosis that usually begins within a few weeks of birth. The seizure activity can appear in multiple locations in the brain or migrate from one region to another during an episode. It results in severe developmental delay.


name: ZFP91_HUMAN E3 ubiquitin-protein ligase ZFP91 (sprot)

description: An E3 ubiquitin-protein ligase ZFP91 that is encoded in the genome of human.


TANDUTINIB

An N-arylpiperazine that is piperazine in which the hydrogen attached to the nitrogen at position 1 is replaced by a 6-methoxy-7-[3-(piperidin-1-yl)propoxy]quinazolin-4-yl group, while the hydrogen attached to the nitrogen at position 4 is replaced by a (p-isopropoxyphenyl)aminocarbonyl group. Tandutinib is an inhibitor of tyrosine kinases FLT3, PDGFR and KIT.


hereditary chronic pancreatitis

description: Hereditary chronic pancreatitis (HCP), a rare inherited form of pancreatitis is defined as recurrent acute pancreatitis and/or chronic pancreatitis in two first-degree relatives or 3 or more second-degree relatives in 2 or more generations, for which no predisposing factors are identified. HCP is characterized by irreversible damage to both exocrine and endocrine components of the pancreas.


name: EFGM_HUMAN Elongation factor G, mitochondrial (sprot)

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


FAM3B_HUMAN Protein FAM3B (sprot)

A protein FAM3B that is encoded in the genome of human.


name: DAZP2_HUMAN DAZ-associated protein 2 (sprot)

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


tirofiban

A member of the class of piperidines that is L-tyrosine in which a hydrogen attached to the amino group is replaced by a butylsulfonyl group and in which the hydrogen attached to the phenolic hydroxy group is replaced by a 4-(piperidin-4-yl)butyl group.


basilar artery occlusion

description: Evidence of occlusion and stenosis of basilar artery.


name: RHG10_HUMAN Rho GTPase-activating protein 10 (sprot)

description: A Rho GTPase-activating protein 10 that is encoded in the genome of human.


name: TOX3_HUMAN TOX high mobility group box family member 3 (sprot)

description: A TOX high mobility group box family member 3 that is encoded in the genome of human.


inclisiran

Inclisiran is a long-acting, synthetic small interfering RNA (siRNA) directed against PCSK9. It is indicated for the treatment of primary hypercholesterolemia (familial and non-familial) or mixed dyslipidemia in adults.


Fatigable weakness

description: A type of weakness that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions.


name: HAOX1_HUMAN 2-Hydroxyacid oxidase 1 (sprot)

description: A 2-hydroxyacid oxidase 1 that is encoded in the genome of human.


name: BRI3_HUMAN Membrane protein BRI3 (sprot)

description: A membrane protein BRI3 that is encoded in the genome of human.


name: SAMD5_HUMAN Sterile alpha motif domain-containing protein 5 (sprot)

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


name: KCMB3_HUMAN Calcium-activated potassium channel subunit beta-3 (sprot)

description: A calcium-activated potassium channel subunit beta-3 that is encoded in the genome of human.


name: PPIL2_HUMAN RING-type E3 ubiquitin-protein ligase PPIL2 (sprot)

description: A RING-type E3 ubiquitin-protein ligase PPIL2 that is encoded in the genome of human.


IL17B_HUMAN Interleukin-17B (sprot)

An interleukin-17B that is encoded in the genome of human.


ANK2_HUMAN Ankyrin-2 (sprot)

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


name: HEN1_HUMAN Helix-loop-helix protein 1 (sprot)

description: A helix-loop-helix protein 1 that is encoded in the genome of human.


name: SO1B3_HUMAN Solute carrier organic anion transporter family member 1B3 (sprot)

description: A solute carrier organic anion transporter family member 1B3 that is encoded in the genome of human.


RETASPIMYCIN

An ansamycin that is tanespimycin in which the benzoquinone moiety has been reduced to the corresponding hydroquinone. A semi-synthetic analogue of geldanamycin, it is used (generally as the hydrochloride salt) in cancer treatment.


name: CSKMT_HUMAN Citrate synthase-lysine N-methyltransferase CSKMT, mitochondrial (sprot)

description: A citrate synthase-lysine N-methyltransferase CSKMT, mitochondrial that is encoded in the genome of human.


name: MOGT2_HUMAN 2-acylglycerol O-acyltransferase 2 (sprot)

description: A 2-acylglycerol O-acyltransferase 2 that is encoded in the genome of human.


name: PGAM2_HUMAN Phosphoglycerate mutase 2 (sprot)

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


pancreatic insulinoma

description: An insulin-producing neuroendocrine tumor arising from the beta cells of the pancreas. Patients exhibit symptoms related to hypoglycemia due to inappropriate secretion of insulin.


name: digestive system mixed adenoneuroendocrine carcinoma

description: A carcinoma that arises from the digestive system and is characterized by the presence of a malignant glandular epithelial component and a malignant neuroendocrine component. At least 30% of either component should be present for the diagnosis to be made.


name: growth hormone-producing pituitary gland neoplasm

description: An adenoma or carcinoma of the anterior lobe of the pituitary gland that produces growth hormone.


APOC2_HUMAN Apolipoprotein C-II (sprot)

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


flumequine

A racemate comprising equimolar amounts of R- and S-flumequine. A broad-spectrum antibiotic, formerly used in veterinary medicine for stock breeding and treatment of aquacultures.


name: SEC63_HUMAN Translocation protein SEC63 homolog (sprot)

description: A translocation protein SEC63 that is encoded in the genome of human.


name: GALR1_HUMAN Galanin receptor type 1 (sprot)

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


name: SIG15_HUMAN Sialic acid-binding Ig-like lectin 15 (sprot)

description: A sialic acid-binding Ig-like lectin 15 that is encoded in the genome of human.


bilateral retinoblastoma

description: Retinoblastoma involving both eyes. This occurs in the majority of patients with the inherited variant. A minority of patient with bilateral retinoblastoma were found to have involvement of the pineal gland as well.


name: CD1B_HUMAN T-cell surface glycoprotein CD1b (sprot)

description: A T-cell surface glycoprotein CD1b that is encoded in the genome of human.


name: RBM45_HUMAN RNA-binding protein 45 (sprot)

description: An RNA-binding protein 45 that is encoded in the genome of human.


adrenal carcinoma

description: A carcinoma involving a adrenal gland.


name: IGHM_HUMAN Immunoglobulin heavy constant mu (sprot)

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


dicumarol

A hydroxycoumarin that is methane in which two hydrogens have each been substituted by a 4-hydroxycoumarin-3-yl group. Related to warfarin, it has been used as an anticoagulant.


Acanthamoeba keratitis

description: Keratitis due to infection by acanthamoeba; it is usually associated with soft contact lens wear, particularly overnight wear.


name: CPT1C_HUMAN Palmitoyl thioesterase CPT1C (sprot)

description: A palmitoyl thioesterase CPT1C that is encoded in the genome of human.


lymph node carcinoma

description: A lymph node cancer that has material basis in abnormally proliferating cells derives from epithelial cells.


carotid body paraganglioma

description: A benign or malignant extra-adrenal parasympathetic paraganglioma arising from paraganglia adjacent to or in the bifurcation of the common carotid artery. Most patients present with a slow growing, painless mass in the neck.


name: ADH1B_HUMAN All-trans-retinol dehydrogenase [NAD(+)] ADH1B (sprot)

description: An all-trans-retinol dehydrogenase [NAD(+)] ADH1B that is encoded in the genome of human.


name: HXB7_HUMAN Homeobox protein Hox-B7 (sprot)

description: A homeobox protein Hox-B7 that is encoded in the genome of human.


name: Elevated circulating hepatic transaminase concentration

description: Elevations of the levels of SGOT and SGPT in the serum. SGOT (serum glutamic oxaloacetic transaminase) and SGPT (serum glutamic pyruvic transaminase) are transaminases primarily found in the liver and heart and are released into the bloodstream as the result of liver or heart damage. SGOT and SGPT are used clinically mainly as markers of liver damage.


name: Crouzon syndrome-acanthosis nigricans syndrome

description: Crouzon syndrome with acanthosis nigricans (CAN) is a very rare, clinically heterogeneous form of faciocraniostenosis with Crouzon-like features and premature synostosis of cranial sutures (Crouzon disease), associated with acanthosis nigricans (AN).


venous insufficiency

description: Impaired venous blood flow or venous return (venous stasis), usually caused by inadequate venous valves. Venous insufficiency often occurs in the legs, and is associated with edema and sometimes with venous stasis ulcers at the ankle.


name: LSAMP_HUMAN Limbic system-associated membrane protein (sprot)

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


deoxyribonucleic acid

High molecular weight, linear polymers, composed of nucleotides containing deoxyribose and linked by phosphodiester bonds; DNA contain the genetic information of organisms.


name: S35B2_HUMAN Adenosine 3'-phospho 5'-phosphosulfate transporter 1 (sprot)

description: An adenosine 3'-phospho 5'-phosphosulfate transporter 1 that is encoded in the genome of human.


name: S35D3_HUMAN Solute carrier family 35 member D3 (sprot)

description: A solute carrier family 35 member D3 that is encoded in the genome of human.


proguanil

A biguanide compound which has isopropyl and p-chlorophenyl substituents on the terminal N atoms. A prophylactic antimalarial drug, it works by inhibiting the enzyme dihydrofolate reductase, which is involved in the reproduction of the malaria parasites Plasmodium falciparum and P. vivax within the red blood cells.


bictegravir

A monocarboxylic acid amide obtained by formal condensation of the carboxy group of (2R,5S,13aR)-8-hydroxy-7,9-dioxo-2,3,4,5,7,9,13,13a-octahydro-2,5-methanopyrido[1',2':4,5]pyrazino[2,1-b][1,3]oxazepine-10-carboxylic acid with the amino group of 2,4,6-trifluorobenzylamine. It is a second-generation integrase strand transfer inhibitor (INSTI) and used (as its sodium salt) for the treatment of HIV-1.


NDP_HUMAN Norrin (sprot)

A norrin that is encoded in the genome of human.


brassicasterol

An 3beta-sterol that is (22E)-ergosta-5,22-diene substituted by a hydroxy group at position 3beta. It is a phytosterol found in marine algae, fish, and rapeseed oil.


name: AATC_HUMAN Aspartate aminotransferase, cytoplasmic (sprot)

description: An aspartate aminotransferase, cytoplasmic that is encoded in the genome of human.


CATH_HUMAN Pro-cathepsin H (sprot)

A cathepsin H that is encoded in the genome of human.


phosphatidylcholine (18:1/20:1)

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


STEA1_HUMAN STEAP1 protein (sprot)

A STEAP1 protein that is encoded in the genome of human.


phosphatidylethanolamine (18:0/20:2)

A phosphatidylethanolamine in which one acyl group has 18 carbons and is fully saturated while the other has 20 carbons and 2 double bonds.


diabetic peripheral angiopathy

description: Diabetic angiopathy is a form of angiopathy associated with diabetic complications.


name: systemic-onset juvenile idiopathic arthritis

description: Systemic-onset juvenile idiopathic arthritis is marked by the severity of the extra-articular manifestations (fever, cutaneous eruptions) and by an equal sex ratio.


name: INHBA_HUMAN Inhibin beta A chain (sprot)

description: An activin/inhibin beta A chain that is encoded in the genome of human.


1-oleoyl glycerol

A 1-monoglyceride where the acyl group is oleoyl.


name: BORA_HUMAN Protein aurora borealis (sprot)

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


name: VKORL_HUMAN Vitamin K epoxide reductase complex subunit 1-like protein 1 (sprot)

description: A vitamin K epoxide reductase complex subunit 1-like protein 1 that is encoded in the genome of human.


Charles bonnet syndrome

description: Charles Bonnet syndrome (CBS) refers to the presenceof visual hallucinations in individuals with visual acuity loss without havingpsychosis or dementia. The condition is likely caused by the brain continuing to interpret images, even in their absence. Underlying conditions of vision loss associated with Charles Bonnet syndrome are diverse (including conditions such as macular degeneration and stroke) and may affect the eye, optic nerve, or brain. Hallucinations often resolve if the underlying vision deficit is corrected and can also remit in some individuals with static or progressive vision loss. Treatment is individualized.


cefmenoxime

A third-generation cephalosporin antibiotic, bearing a 2-(2-amino-1,3-thiazol-4-yl)-2-(methoxyimino)acetyl]amino group at the 7beta-position and a [(1-methyl-1H-tetrazol-5-yl)sulfanyl]methyl group at the 3-position.


name: Decreased small intestinal mucosa lactase level

description: Lactase is produced in the small intestine in humans, Lactase is a member of the beta-galactosidase family of enzymes, and hydrolyzes D-lactose to form D-galactose and D-glucose, which can be absorbed by the small intestine. There are many ways of assessing lactase activity. In one test, an endoscopic biopsy from the postbulbar duodenum is incubated with lactose on a test plate, and a color reaction develops within 20 min as a result of hydrolyzed lactose (a positive result) in patients with normolactasia, whereas no reaction (a negative result) develops in patients with severe hypolactasia. Other, less direct, tests include the hydrogen breath test, and blood tests following lactose challenges.


name: LIMD1_HUMAN LIM domain-containing protein 1 (sprot)

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


name: SNW1_HUMAN SNW domain-containing protein 1 (sprot)

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


name: TRI45_HUMAN E3 ubiquitin-protein ligase TRIM45 (sprot)

description: An E3 ubiquitin-protein ligase TRIM45 that is encoded in the genome of human.


name: GLRA2_HUMAN Glycine receptor subunit alpha-2 (sprot)

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


ileus

description: Decrease in peristalsis in the absence of a mechanical bowel obstruction.


Macroprolactinoma

description: A pituitary prolactin cell adenoma of more than 10 mm diameter.


name: RP1_HUMAN Oxygen-regulated protein 1 (sprot)

description: An oxygen-regulated protein 1 that is encoded in the genome of human.


name: G3BP2_HUMAN Ras GTPase-activating protein-binding protein 2 (sprot)

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


name: TBX2_HUMAN T-box transcription factor TBX2 (sprot)

description: A T-box transcription factor TBX2 that is encoded in the genome of human.


name: MACF1_HUMAN Microtubule-actin cross-linking factor 1, isoforms 1/2/3/4/5 (sprot)

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


name: TUSC3_HUMAN Tumor suppressor candidate 3 (sprot)

description: A tumor suppressor candidate 3 that is encoded in the genome of human.


name: RIR2B_HUMAN Ribonucleoside-diphosphate reductase subunit M2 B (sprot)

description: A ribonucleoside-diphosphate reductase subunit M2 B that is encoded in the genome of human.


name: TNR4_HUMAN Tumor necrosis factor receptor superfamily member 4 (sprot)

description: A tumor necrosis factor receptor superfamily member 4 that is encoded in the genome of human.


name: PRPS3_HUMAN Ribose-phosphate pyrophosphokinase 3 (sprot)

description: A ribose-phosphate pyrophosphokinase 3 that is encoded in the genome of human.


NONIVAMIDE

A capsaicinoid that is the carboxamide resulting from the formal condensation of the amino group of 4-hydroxy-3-methoxybenzylamine with the carboxy group of nonanoic acid. It is the active ingredient in many pepper sprays.


name: ST2B1_HUMAN Sulfotransferase 2B1 (sprot)

description: A sulfotransferase 2B1 that is encoded in the genome of human.


name: CHD2_HUMAN Chromodomain-helicase-DNA-binding protein 2 (sprot)

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


HEPH_HUMAN Hephaestin (sprot)

A hephaestin that is encoded in the genome of human.


name: MEI4_HUMAN Meiosis-specific protein MEI4 (sprot)

description: A meiosis-specific protein MEI4 that is encoded in the genome of human.


name: SE6L2_HUMAN Seizure 6-like protein 2 (sprot)

description: A seizure 6-like protein 2 that is encoded in the genome of human.


KLK8_HUMAN Kallikrein-8 (sprot)

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


CAYP1_HUMAN Calcyphosin (sprot)

A calcyphosin that is encoded in the genome of human.


name: MTD2L_HUMAN Bifunctional methylenetetrahydrofolate dehydrogenase/cyclohydrolase 2, mitochondrial (sprot)

description: A bifunctional methylenetetrahydrofolate dehydrogenase/cyclohydrolase 2, mitochondrial that is encoded in the genome of human.


BEST3_HUMAN Bestrophin-3 (sprot)

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


name: OTX2_HUMAN Homeobox protein OTX2 (sprot)

description: A homeobox protein OTX2 that is encoded in the genome of human.


name: NP1L3_HUMAN Nucleosome assembly protein 1-like 3 (sprot)

description: A nucleosome assembly protein 1-like 3 that is encoded in the genome of human.


CLRN1_HUMAN Clarin-1 (sprot)

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


sakuranetin

A flavonoid phytoalexin that is (S)-naringenin in which the hydroxy group at position 7 is replaced by a methoxy group.


cinnamic acid

The E (trans) isomer of cinnamic acid


MERL_HUMAN Merlin (sprot)

A merlin that is encoded in the genome of human.


Polypoidal choroidal vasculopathy

description: The presence of aneurysmal polypoidal lesions in the choroidal vasculature. The aneurysmal dilatations, also known as polyps, may be found at subfoveal, juxtafoveal, extrafoveal, peripapillary or even peripheral regions. These polypoidal dilatations may be visible as reddish-orange subretinal nodules during ophthalmoscopic examination. The polypoidal lesions are best detected on indocyanine green angiography (ICGA) and might be associated with a branching vascular network (BVN) of neovascularization.


idiopathic cardiomyopathy

description: A disease of the heart muscle or myocardium proper whose cause is unknown.


naringin

A disaccharide derivative that is (S)-naringenin substituted by a 2-O-(alpha-L-rhamnopyranosyl)-beta-D-glucopyranosyl moiety at position 7 via a glycosidic linkage.


name: DJC12_HUMAN DnaJ homolog subfamily C member 12 (sprot)

description: A DnaJ homolog subfamily C member 12 that is encoded in the genome of human.


ventricular fibrillation

description: A disorder characterized by an electrocardiographic finding of a rapid grossly irregular ventricular rhythm with marked variability in QRS cycle length, morphology, and amplitude. The rate is typically greater than 300 bpm. (CDISC)


name: PROL1_HUMAN Opiorphin prepropeptide (sprot)

description: An opiorphin prepropeptide that is encoded in the genome of human.


name: CREB5_HUMAN Cyclic AMP-responsive element-binding protein 5 (sprot)

description: A cyclic AMP-responsive element-binding protein 5 that is encoded in the genome of human.


CBPA4_HUMAN Carboxypeptidase A4 (sprot)

A carboxypeptidase A4 that is encoded in the genome of human.


name: SIK3_HUMAN Serine/threonine-protein kinase SIK3 (sprot)

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


name: MGST1_HUMAN Microsomal glutathione S-transferase 1 (sprot)

description: A microsomal glutathione S-transferase 1 that is encoded in the genome of human.


anagrelide

A 1,5-dihydroimidazo[2,1-]quinazoline having an oxo substituent at the 2-position and chloro substituents at the 6- and 7-positions.


nepafenac

A monocarboxylic acid amide that is amfenac in which the carboxylic acid group has been converted into the corresponding carboxamide. It is a prodrug for amfenac, used in eye drops to treat pain and inflammation following cataract surgery.


name: AA2AR_HUMAN Adenosine receptor A2a (sprot)

description: An adenosine receptor A2a that is encoded in the genome of human.


name: RNF41_HUMAN E3 ubiquitin-protein ligase NRDP1 (sprot)

description: An E3 ubiquitin-protein ligase NRDP1 that is encoded in the genome of human.


name: ADAM7_HUMAN Disintegrin and metalloproteinase domain-containing protein 7 (sprot)

description: A disintegrin and metalloproteinase domain-containing protein 7 that is encoded in the genome of human.


trehalose

A disaccharide formed by a (1<->1)-glycosidic bond between two units of D-glucose.


name: A4GAT_HUMAN Lactosylceramide 4-alpha-galactosyltransferase (sprot)

description: A lactosylceramide 4-alpha-galactosyltransferase that is encoded in the genome of human.


CATG_HUMAN Cathepsin G (sprot)

A cathepsin G that is encoded in the genome of human.


clear cell sarcoma

description: A rare malignant neoplasm with melanocytic differentiation characterized by the presence of polygonal or spindle shaped clear cells. This sarcoma usually affects the tendons and aponeuroses and is associated with a poor prognosis due to recurrences and metastases.


name: SC6A8_HUMAN Sodium- and chloride-dependent creatine transporter 1 (sprot)

description: A sodium- and chloride-dependent creatine transporter 1 that is encoded in the genome of human.


name: NDUF6_HUMAN NADH dehydrogenase (ubiquinone) complex I, assembly factor 6 (sprot)

description: An NADH dehydrogenase (ubiquinone) complex I, assembly factor 6 that is encoded in the genome of human.


2-HYDROXYBUTYRIC ACID

A hydroxybutyric acid having a single hydroxyl group located at position 2; urinary secretion of 2-hydroxybutyric acid is increased with alcohol ingestion or vigorous physical exercise and is associated with lactic acidosis and ketoacidosis in humans and diabetes in animals.


Hypoperistalsis

description: Reduced or inadequate peristalsis, with resultant slow passage of contents through the digestive tract.


name: LICH_HUMAN Lysosomal acid lipase/cholesteryl ester hydrolase (sprot)

description: A lysosomal acid lipase/cholesteryl ester hydrolase that is encoded in the genome of human.


name: CENPJ_HUMAN Centromere protein J (sprot)

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


NET3_HUMAN Netrin-3 (sprot)

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


name: UNC5B_HUMAN Netrin receptor UNC5B (sprot)

description: A netrin receptor UNC5B that is encoded in the genome of human.


name: NUD15_HUMAN Nucleotide triphosphate diphosphatase NUDT15 (sprot)

description: A nucleotide triphosphate diphosphatase that is encoded in the genome of human.


TRIFLUOROACETIC ACID

A monocarboxylic acid that is the trifluoro derivative of acetic acid.


name: PLAC1_HUMAN Placenta-specific protein 1 (sprot)

description: A placenta-specific protein 1 that is encoded in the genome of human.


LIX1L_HUMAN LIX1-like protein (sprot)

A LIX1-like protein that is encoded in the genome of human.


METHYLENE CHLORIDE

A member of the class of chloromethanes that is methane in which two of the hydrogens have been replaced by chlorine. A dense, non-flammible colourless liquid at room temperature (b.p. 40degreeC, d = 1.33) which is immiscible with water, it is widely used as a solvent, a paint stripper, and for the removal of caffeine from coffee and tea.


name: PRAM_HUMAN PML-RARA-regulated adapter molecule 1 (sprot)

description: A PML-RARA-regulated adapter molecule 1 that is encoded in the genome of human.


name: TNAP2_HUMAN Tumor necrosis factor alpha-induced protein 2 (sprot)

description: A tumor necrosis factor alpha-induced protein 2 that is encoded in the genome of human.


STX6_HUMAN Syntaxin-6 (sprot)

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


name: PGRP1_HUMAN Peptidoglycan recognition protein 1 (sprot)

description: A peptidoglycan recognition protein 1 that is encoded in the genome of human.


name: METL9_HUMAN Protein-L-histidine N-pros-methyltransferase (sprot)

description: A protein-L-histidine N-pros-methyltransferase that is encoded in the genome of human.


DOXYCYCLINE HYCLATE

The hemiethanolate hemihydrate of doxycycline hydrochloride. A semi-synthetic tetracycline antibiotic, it is used to inhibit bacterial protein synthesis and treat non-gonococcal urethritis and cervicitis, exacerbations of bronchitis in patients with chronic obstructive pulmonary disease (COPD), and adult periodontitis.


enterocolitis

description: An inflammatory process affecting the small intestine and colon. Causes include viruses, bacteria, radiation, and antibiotics use.


embryonal rhabdomyosarcoma

description: A poorly circumscribed morphologic variant of rhabdomyosarcoma. It is characterized by the presence of primitive skeletal muscle differentiation in any stage of myogenesis.


name: TCPD_HUMAN T-complex protein 1 subunit delta (sprot)

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


name: MYLK2_HUMAN Myosin light chain kinase 2, skeletal/cardiac muscle (sprot)

description: A myosin light chain kinase 2, skeletal/cardiac muscle that is encoded in the genome of human.


CAN7_HUMAN Calpain-7 (sprot)

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


Repeated implantation failure

description: Repeated implantation failure refers to a situation in which embryos of good quality fail to implant following several in vitro fertilization (IVF) treatment cycles.


name: AAKB2_HUMAN 5'-AMP-activated protein kinase subunit beta-2 (sprot)

description: A 5'-AMP-activated protein kinase subunit beta-2 that is encoded in the genome of human.


name: NOP2_HUMAN Probable 28S rRNA (cytosine(4447)-C(5))-methyltransferase (sprot)

description: A probable 28S rRNA (cytosine(4447)-C(5))-methyltransferase that is encoded in the genome of human.


HYAL2_HUMAN Hyaluronidase-2 (sprot)

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


DNAS1_HUMAN Deoxyribonuclease-1 (sprot)

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


name: C5AR2_HUMAN C5a anaphylatoxin chemotactic receptor 2 (sprot)

description: A C5a anaphylatoxin chemotactic receptor 2 that is encoded in the genome of human.


name: ASZ1_HUMAN Ankyrin repeat, SAM and basic leucine zipper domain-containing protein 1 (sprot)

description: An ankyrin repeat, SAM and basic leucine zipper domain-containing protein 1 that is encoded in the genome of human.


name: RWD2B_HUMAN RWD domain-containing protein 2B (sprot)

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


name: SAHH3_HUMAN Adenosylhomocysteinase 3 (sprot)

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


name: MGST2_HUMAN Microsomal glutathione S-transferase 2 (sprot)

description: A microsomal glutathione S-transferase 2 that is encoded in the genome of human.


rapidly progressive glomerulonephritis

description: Inflammation of the glomeruli that is characterized by a rapid loss in renal function with glomerular crescent formation observed on biopsy; it is often seen in patients with concomitant autoimmune disease, like Goodpasture's syndrome or systemic lupus erythematosus.


xanthoma

description: A non-neoplastic disorder characterized by a localized collection of histiocytes containing lipid. Xanthomas usually occur in the skin and subcutaneous tissues, but occasionally they may involve the deep soft tissues.


barium chloride

The inorganic dichloride salt of barium.


CHOLESTERYL OLEATE

The (Z)-stereoisomer of  cholesteryl octadec-9-enoate.


name: TEBP_HUMAN Prostaglandin E synthase 3 (sprot)

description: A prostaglandin E synthase 3 that is encoded in the genome of human.


name: EDC3_HUMAN Enhancer of mRNA-decapping protein 3 (sprot)

description: An enhancer of mRNA-decapping protein 3 that is encoded in the genome of human.


EFNA2_HUMAN Ephrin-A2 (sprot)

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


name: DAAF3_HUMAN Dynein axonemal assembly factor 3 (sprot)

description: A dynein axonemal assembly factor 3 that is encoded in the genome of human.


vanillylmandelic acid

An aromatic ether that is the 3-O-methyl ether of 3,4-dihydroxymandelic acid.


sulfaphenazole

A sulfonamide that is sulfanilamide in which the sulfonamide nitrogen is substituted by a 1-phenyl-1H-pyrazol-5-yl group. It is a selective inhibitor of cytochrome P450 (CYP) 2C9 isozyme, and antibacterial agent.


name: AKAP5_HUMAN A-kinase anchor protein 5 (sprot)

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


cardiovascular cancer

description: A primary or metastatic malignant neoplasm involving the cardiovascular system.


pulmonary eosinophilia

description: A condition characterized by infiltration of the lung with eosinophils due to inflammation or other disease processes. Major eosinophilic lung diseases are the eosinophilic pneumonias caused by infections, allergens, or toxic agents.


Multiple meningiomas

description: The occurrence of multiple distinct meningiomas in the same individual.


KLK13_HUMAN Kallikrein-13 (sprot)

A kallikrein-13 that is encoded in the genome of human.


extramammary Paget disease

description: A malignant neoplasm in which there is infiltration of the skin by neoplastic large cells with abundant pale cytoplasm and large nuclei with prominent nucleoli (Paget cells). It may affect the anus, penis, scrotum, and vulva.


IPO7_HUMAN Importin-7 (sprot)

An importin-7 that is encoded in the genome of human.


name: GLRX5_HUMAN Glutaredoxin-related protein 5, mitochondrial (sprot)

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


name: maternally-inherited diabetes and deafness

description: Maternally inherited diabetes and deafness (MIDD) is a mitochondrial disorder characterized by maternally transmitted diabetes and sensorineural deafness.


name: SPESP_HUMAN Sperm equatorial segment protein 1 (sprot)

description: A sperm equatorial segment protein 1 that is encoded in the genome of human.


name: NDUAD_HUMAN NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 13 (sprot)

description: An NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 13 that is encoded in the genome of human.


name: ULBP1_HUMAN UL16-binding protein 1 (sprot)

description: A UL16-binding protein 1 that is encoded in the genome of human.


demecolcine

A secondary amino compound that is (S)-colchicine in which the N-acetyl group is replaced by an N-methyl group. Isolable from the autumn crocus, Colchicum autumnale, it is less toxic than colchicine and is used as an antineoplastic.