name: FRMD6_HUMAN FERM domain-containing protein 6 (sprot)

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


lymphangitis

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

description: Inflammation of the lymphatic vessels.


name: ERCC5_HUMAN DNA excision repair protein ERCC-5 (sprot)

description: A DNA excision repair protein ERCC-5 that is encoded in the genome of human.


schizoaffective disorder

description: A disorder in which the individual suffers from both symptoms that qualify as schizophrenia and symptoms that qualify as a mood disorder (e.g., depression or bipolar disorder) for a substantial portion (but not all) of the active period of the illness; for the remainder of the active period of the illness, the individual suffers from delusions or hallucinations in the absence of prominent mood symptoms.


name: RCAS1_HUMAN Receptor-binding cancer antigen expressed on SiSo cells (sprot)

description: A receptor-binding cancer antigen expressed on SiSo cells that is encoded in the genome of human.


choline alfoscerate

A member of the class of phosphocholines that is the choline ester of sn-glycero-3-phosphate. It is one of the major osmolyte in the renal medullary cells.


name: GPCP1_HUMAN Glycerophosphocholine phosphodiesterase GPCPD1 (sprot)

description: A glycerophosphocholine phosphodiesterase GPCPD1 that is encoded in the genome of human.


Wells syndrome

description: Wells syndrome is characterized by the presence of recurrent cellulitis-like eruptions with eosinophilia.


mixed phenotype acute leukemia

description: An acute leukemia of ambiguous lineage. It is characterized by the presence of either separate populations of blasts of more than one lineage, or one population of blasts co-expressing markers of more than one lineage.


name: NDUB8_HUMAN NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 8, mitochondrial (sprot)

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


name: DPP8_HUMAN Dipeptidyl peptidase 8 (sprot)

description: A dipeptidyl peptidase 8 that is encoded in the genome of human.


Coldness

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

description: Relative coldness of a body part to palpitation, often acccompanied by feelings of coldness.


TSN8_HUMAN Tetraspanin-8 (sprot)

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


name: UTF1_HUMAN Undifferentiated embryonic cell transcription factor 1 (sprot)

description: An undifferentiated embryonic cell transcription factor 1 that is encoded in the genome of human.


name: AN32E_HUMAN Acidic leucine-rich nuclear phosphoprotein 32 family member E (sprot)

description: An acidic leucine-rich nuclear phosphoprotein 32 family member E that is encoded in the genome of human.


name: GDF1_HUMAN Embryonic growth/differentiation factor 1 (sprot)

description: An embryonic growth/differentiation factor 1 that is encoded in the genome of human.


dibucaine

A monocarboxylic acid amide that is the 2-(diethylamino)ethyl amide of 2-butoxyquinoline-4-carboxylic acid. One of the most potent and toxic of the long-acting local anesthetics, its parenteral use was restricted to spinal anesthesia. It is now generally only used (usually as the hydrochloride) in creams and ointments and in suppositories for temporary relief of pain and itching associated with skin and anorectal conditions.


name: MTP_HUMAN Microsomal triglyceride transfer protein large subunit (sprot)

description: A microsomal triglyceride transfer protein large subunit that is encoded in the genome of human.


name: SC6A4_HUMAN Sodium-dependent serotonin transporter (sprot)

description: A sodium-dependent serotonin transporter that is encoded in the genome of human.


lactitol

A glycosyl alditol consisting of beta-D-galactopyranose and D-glucitol joined by a 1->4 glycosidic bond. It is used as a laxative, as an excipient, and as replacement bulk sweetener in some low-calorie foods.


name: PHOP1_HUMAN Phosphoethanolamine/phosphocholine phosphatase (sprot)

description: A phosphoethanolamine/phosphocholine phosphatase that is encoded in the genome of human.


hemangioma

description: A benign vascular lesion characterized by the formation of capillary-sized or cavernous vascular channels.


Brain fog

description: Brain fog is a type of transient cognitive dysfunction that comprises a constellation of symptoms that impair intellectual functioning to a level that interferes with daily activities, commonly including forgetfulness, mental slowness, difficulty thinking or focusing, a perceived slowing of mental processing speed, inability to find the right words, a sensation that the mind went blank or is "cloudy". Brain fog tends to recur and may be triggered by factors such as physical fatigue, lack of sleep, and prolonged standing or may appear to occur spontaneously.


name: PEG10_HUMAN Retrotransposon-derived protein PEG10 (sprot)

description: A retrotransposon-derived protein PEG10 that is encoded in the genome of human.


name: PLTP_HUMAN Phospholipid transfer protein (sprot)

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


name: INSI1_HUMAN Insulin-induced gene 1 protein (sprot)

description: An insulin-induced gene 1 protein that is encoded in the genome of human.


GSDMA_HUMAN Gasdermin-A (sprot)

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


name: ARRD2_HUMAN Arrestin domain-containing protein 2 (sprot)

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


name: RPN2_HUMAN Dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit 2 (sprot)

description: A dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit 2 that is encoded in the genome of human.


IFNL1_HUMAN Interferon lambda-1 (sprot)

An interleukin-29 that is encoded in the genome of human.


name: HMGA2_HUMAN High mobility group protein HMGI-C (sprot)

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


name: NOP14_HUMAN Nucleolar protein 14 (sprot)

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


name: RDHE2_HUMAN Epidermal retinol dehydrogenase 2 (sprot)

description: An epidermal retinol dehydrogenase 2 that is encoded in the genome of human.


name: SLC31_HUMAN Amino acid transporter heavy chain SLC3A1 (sprot)

description: An amino acid transporter heavy chain SLC3A1 that is encoded in the genome of human.


polyposis

description: A condition characterized by the presence of numerous polyps.


name: MANF_HUMAN Mesencephalic astrocyte-derived neurotrophic factor (sprot)

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


pyoderma

description: Any skin disease that is pyegenic.


name: AHSA2_HUMAN Putative activator of 90 kDa heat shock protein ATPase homolog 2 (sprot)

description: A putative activator of 90 kDa heat shock protein ATPase homolog 2 that is encoded in the genome of human.


name: TINF2_HUMAN TERF1-interacting nuclear factor 2 (sprot)

description: A TERF1-interacting nuclear factor 2 that is encoded in the genome of human.


name: TRPM4_HUMAN Transient receptor potential cation channel subfamily M member 4 (sprot)

description: A transient receptor potential cation channel subfamily M member 4 that is encoded in the genome of human.


disseminated intravascular coagulation

description: A pathological process where the blood starts to coagulate throughout the whole body. This depletes the body of its platelets and coagulation factors, and there is an increased risk of hemorrhage.


Sensory axonal neuropathy

description: An axonal neuropathy of peripheral sensory nerves.


S10A6_HUMAN Protein S100-A6 (sprot)

A protein S100-A6 that is encoded in the genome of human.


nutritional deficiency disease

description: A condition produced by dietary or metabolic deficiency. The term includes all diseases caused by an insufficient supply of essential nutrients, i.e., protein (or amino acids), vitamins, and minerals. It also includes an inadequacy of calories. (From Dorland, 27th ed; Stedman, 25th ed)


name: KCC2D_HUMAN Calcium/calmodulin-dependent protein kinase type II subunit delta (sprot)

description: A calcium/calmodulin-dependent protein kinase type II subunit delta that is encoded in the genome of human.


generalized anxiety disorder

description: An anxiety disorder characterized by excessive and difficult-to-control worry about a number of life situations. The worry is accompanied by restlessness, fatigue, inability to concentrate, irritability, muscle tension, and/or sleep disturbance and lasts for at least 6 months.


TRICOSANOIC ACID

A very long-chain fatty acid that is tricosane in which one of the methyl groups has been oxidised to the corresponding carboxylic acid.


name: ELOV2_HUMAN Very long chain fatty acid elongase 2 (sprot)

description: A very long chain fatty acid elongase 2 that is encoded in the genome of human.


severe congenital neutropenia

description: A congenital disorder characterized by chronic neutropenia with absolute neutrophil count less than 500/uL and arrest of neutrophil maturation at the promyelocyte/myelocyte level. It is inherited in autosomal recessive or autosomal dominant patterns. Sporadic cases have also been reported. It is usually diagnosed in the first year of life. Patients present with frequent and life-threatening infections.


A leukotriene that is (5S,7E,9E,11Z,14Z)-5-hydroxyicosa-7,9,11,14-tetraenoic acid in which a glutathionyl group is attached at position 6 via a sulfide linkage.


Cutaneous necrosis

description: Skin and subcutaneous tissue necrosis (tissue death). Clinically, cutaneous necrosis may present as a painful and extremely tender black eschar (dead tissue found in a full-thickness wound) surrounded by dusky grey-red colored skin.


dilazep

A member of the class of diazepanes that is 1,4-diazepane substituted by 3-[(3,4,5-trimethoxybenzoyl)oxy]propyl groups at positions 1 and 4. It is a potent adenosine uptake inhibitor that exhibits antiplatelet, antianginal and vasodilator properties.


name: CGBP1_HUMAN CGG triplet repeat-binding protein 1 (sprot)

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


name: MXRA8_HUMAN Matrix remodeling-associated protein 8 (sprot)

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


name: RS15A_HUMAN Small ribosomal subunit protein uS8 (sprot)

description: A eukaryotic-type small ribosomal subunit protein uS8 that is encoded in the genome of human.


name: GRIK2_HUMAN Glutamate receptor ionotropic, kainate 2 (sprot)

description: A glutamate receptor ionotropic, kainate 2 that is encoded in the genome of human.


name: SAMD9_HUMAN Sterile alpha motif domain-containing protein 9 (sprot)

description: A sterile alpha motif domain-containing protein 9 that is encoded in the genome of human.


name: FYV1_HUMAN 1-phosphatidylinositol 3-phosphate 5-kinase (sprot)

description: A 1-phosphatidylinositol 3-phosphate 5-kinase that is encoded in the genome of human.


name: EFCE2_HUMAN EEF1AKMT4-ECE2 readthrough transcript protein (sprot)

description: An EEF1AKMT4-ECE2 readthrough transcript protein that is encoded in the genome of human.


childhood onset asthma

description: Asthma that starts in childhood.


malignant conjunctival melanoma

description: A malignant melanoma within the conjunctiva of the eye.


name: SFRP5_HUMAN Secreted frizzled-related protein 5 (sprot)

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


Interstitial cardiac fibrosis

description: A type of myocardial fibrosis characterized by excessive diffuse collagen accumulation concentrated in interstitial spaces.


dithranol

An anthracene compound derived by the substitution of -OH groups for hydrogen at C-1 and C-8, and with an oxo group at C-9.


name: subcutaneous panniculitis-like T-cell lymphoma

description: Subcutaneous panniculitis-like T-cell lymphoma (SPTCL) is a rare cytotoxic cutaneous lymphoma that has been recognized as a distinct subset of peripheral T-cell lymphomas originating and presenting primarily in the subcutaneous fat tissue.


name: STABP_HUMAN STAM-binding protein (sprot)

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


name: EPOR_HUMAN Erythropoietin receptor (sprot)

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


Hypocapnia

description: Abnormally reduced blood carbon dioxide (CO2) level.


JAG2_HUMAN Protein jagged-2 (sprot)

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


name: RECQ5_HUMAN ATP-dependent DNA helicase Q5 (sprot)

description: An ATP-dependent DNA helicase Q5 that is encoded in the genome of human.


name: hereditary leiomyomatosis and renal cell cancer

description: Hereditary leiomyomatosis and renal cell cancer (HLRCC) is a hereditary cancer syndrome characterized by a predisposition to cutaneous and uterine leiomyomas and, in some families, to renal cell cancer.


chlorpropamide

An N-sulfonylurea that is urea in which a hydrogen attached to one of the nitrogens is substituted by 4-chlorobenzenesulfonyl group and a hydrogen attached to the other nitrogen is substituted by propyl group. Chlorpropamide is a hypoglycaemic agent used in the treatment of type 2 (non-insulin-dependent) diabetes mellitus not responding to dietary modification.


color vision disorder

description: The absence of or defect in the perception of colors.


name: PLOD2_HUMAN Procollagen-lysine,2-oxoglutarate 5-dioxygenase 2 (sprot)

description: A procollagen-lysine,2-oxoglutarate 5-dioxygenase 2 that is encoded in the genome of human.


name: VIPR1_HUMAN Vasoactive intestinal polypeptide receptor 1 (sprot)

description: A vasoactive intestinal polypeptide receptor 1 that is encoded in the genome of human.


name: FOLR2_HUMAN Folate receptor beta (sprot)

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


DAG1_HUMAN Dystroglycan 1 (sprot)

A dystroglycan 1 that is encoded in the genome of human.


name: CDN2C_HUMAN Cyclin-dependent kinase 4 inhibitor C (sprot)

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


name: RNZ2_HUMAN Zinc phosphodiesterase ELAC protein 2 (sprot)

description: A zinc phosphodiesterase ELAC protein 2 that is encoded in the genome of human.


name: GOSR2_HUMAN Golgi SNAP receptor complex member 2 (sprot)

description: A Golgi SNAP receptor complex member 2 that is encoded in the genome of human.


Branch retinal vein occlusion

description: Blockage of a branch of the retinal vein. It may present with sudden-onset of painless vision loss or visual field defect correlating to the area of perfusion of the obstructed vessels.


name: carbon monoxide-induced delayed encephalopathy

description: Anoxic encephalopathy resulting from acute CO intoxication, developing within 2-6 weeks of the poisoning event


name: DDRGK_HUMAN DDRGK domain-containing protein 1 (sprot)

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


name: RB22A_HUMAN Ras-related protein Rab-22A (sprot)

description: A Ras-related protein Rab-22A that is encoded in the genome of human.


name: SC61B_HUMAN Protein transport protein Sec61 subunit beta (sprot)

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


GAMMA-TOCOPHEROL

A tocopherol in which the chroman-6-ol core is substituted by methyl groups at positions 7 and 8. It is found particularly in maize (corn) oil and soya bean (soybean) oils.


toxoplasmosis

description: A parasitic disease contracted by the ingestion or fetal transmission of toxoplasma gondii.


stevioside

A diterpene glycoside that is rubusoside in which the hydroxy group at position 2 of the allylic beta-D-glucoside has been converted to the corresponding beta-D-glucoside. It is a natural herbal sweetener that is 250-300 times sweeter than sucrose (though with a bitter aftertaste), extracted from the Stevia rebaudiana plant native to South America.


name: TAXB1_HUMAN Tax1-binding protein 1 (sprot)

description: A Tax1-binding protein 1 that is encoded in the genome of human.


name: TMUB1_HUMAN Transmembrane and ubiquitin-like domain-containing protein 1 (sprot)

description: A transmembrane and ubiquitin-like domain-containing protein 1 that is encoded in the genome of human.


name: AK1D1_HUMAN Aldo-keto reductase family 1 member D1 (sprot)

description: An aldo-keto reductase family 1 member D1 that is encoded in the genome of human.


name: GGT5_HUMAN Glutathione hydrolase 5 proenzyme (sprot)

description: A glutathione hydrolase 5 proenzyme that is encoded in the genome of human.


neflamapimod

A member of the class of pyrimidopyridazines that is 6H-pyrimido[1,6-b]pyridazin-6-one substituted at positions 2 and 5 by (2,4-difluorophenyl)sulfanyl and 2,6-dichlorophenyl groups respectively


iptacopan

A member of the class of indoles that is 1H-indole substituted by [(2S,4S)-2-(4-carboxyphenyl)-4-ethoxypiperidin-1-yl]methyl, methoxy, and methyl groups at positions 4, 5, and 6, respectively. It is a potent inhibitor of complement factor B (IC50 = 10nM) with potential immunomodulatory activity.


atypical hemolytic-uremic syndrome

description: A rare, genetic thrombotic microangiopathy due to dysregulation of the alternative complement pathway and characterized by the triad of hemolytic anemia, thrombocytopenia, and acute renal dysfunction.


Dengue hemorrhagic fever

description: A serious condition caused by Dengue virus infection. Patients present with an acute febrile illness followed by restlessness, irritability, and bleeding. It may lead to hemorrhagic shock and death.


name: RORG_HUMAN Nuclear receptor ROR-gamma (sprot)

description: A nuclear receptor ROR-gamma that is encoded in the genome of human.


CONCANAMYCIN A

A concanamycin in which the lactone ring contains 4 double bonds and is substituted by 4 methyl groups, 2 hydroxy groups, 2 methoxy groups and an ethyl group.


Leukoencephalopathy

description: This term describes abnormality of the white matter of the cerebrum resulting from damage to the myelin sheaths of nerve cells.


name: ALR_HUMAN FAD-linked sulfhydryl oxidase ALR (sprot)

description: An FAD-linked sulfhydryl oxidase ALR that is encoded in the genome of human.


name: INP5E_HUMAN Phosphatidylinositol polyphosphate 5-phosphatase type IV (sprot)

description: A phosphatidylinositol polyphosphate 5-phosphatase type IV that is encoded in the genome of human.


glasdegib

A member of the class of benzimidazoles that is 1H-benzimidazole which is substituted by a (2R,4S)-4-{[(4-cyanophenyl)carbamoyl]amino}-1-methylpiperidin-2-yl group at position 2. It is a hedgehog signalling pathway inhibitor that acts by binding to Smoothened (SMO) receptors and blocking signal transduction (IC50 = 5 nM). It is used in combination with low-dose cytarabine, for the treatment of newly-diagnosed acute myeloid leukemia (AML) in adult patients (aged >= 75 years), or who have medical conditions that prevent the use of standard chemotherapy.


Paroxysmal atrial fibrillation

description: Episodes of atrial fibrillation that typically last for several hours up to one day and terminate spontaneously.


name: SCN3B_HUMAN Sodium channel regulatory subunit beta-3 (sprot)

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


name: CAC1B_HUMAN Voltage-dependent N-type calcium channel subunit alpha-1B (sprot)

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


name: RAB31_HUMAN Ras-related protein Rab-31 (sprot)

description: A Ras-related protein Rab-31 that is encoded in the genome of human.


name: RAB32_HUMAN Ras-related protein Rab-32 (sprot)

description: A Ras-related protein Rab-32 that is encoded in the genome of human.


plitidepsin

A didemnin that is didemin B in which the hydroxy group of the 1-(2-hydroxypropanoyl)-L-prolinamide moiety has been oxidised to the corresponding ketone. It was originally isolated from the Mediterranean tunicate Aplidium albicans.


name: TRI38_HUMAN E3 ubiquitin-protein ligase TRIM38 (sprot)

description: An E3 ubiquitin-protein ligase TRIM38 that is encoded in the genome of human.


name: SIG12_HUMAN Sialic acid-binding Ig-like lectin 12 (sprot)

description: A sialic acid-binding Ig-like lectin 12 that is encoded in the genome of human.


name: IBP2_HUMAN Insulin-like growth factor-binding protein 2 (sprot)

description: An insulin-like growth factor-binding protein 2 that is encoded in the genome of human.


name: ATD3A_HUMAN ATPase family AAA domain-containing protein 3A (sprot)

description: An ATPase family AAA domain-containing protein 3A that is encoded in the genome of human.


H11_HUMAN Histone H1.1 (sprot)

A histone H1.1 that is encoded in the genome of human.


benzoquinone

The simplest member of the class of 1,4-benzoquinones, obtained by the formal oxidation of hydroquinone to the corresponding diketone. It is a metabolite of benzene.


bretylium

A quaternary ammonium cation having 2-bromobenzyl, ethyl and two methyl groups attached to the nitrogen. It blocks noradrenaline release from the peripheral sympathetic nervous system, and is used in emergency medicine, cardiology, and other specialties for the acute management of ventricular tachycardia and ventricular fibrillation.


name: succinic semialdehyde dehydrogenase deficiency

description: Succinic semialdehyde dehydrogenase (SSADH) deficiency is a rare neurometabolic disorder of gamma-aminobutyric acid (GABA) metabolism with a nonspecific clinical presentation (ranging from mild to severe) with the most frequent symptoms being cognitive impairment with prominent deficit in expressive language, hypotonia, ataxia, epilepsy, and behavioral dysregulation.


APHIDICOLIN

A tetracyclic diterpenoid that has an tetradecahydro-8,11a-methanocyclohepta[a]naphthalene skeleton with two hydroxymethyl substituents at positions 4 and 9, two methyl substituents at positions 4 and 11b and two hydroxy substituents at positions 3 and 9. An antibiotic with antiviral and antimitotical properties. Aphidicolin is a reversible inhibitor of eukaryotic nuclear DNA replication.


skin basal cell carcinoma

description: The most frequently seen skin cancer. It arises from basal cells of the epidermis and pilosebaceous units. Clinically it is divided into the following types: nodular, ulcerative, superficial, multicentric, erythematous, and sclerosing or morphea-like. More than 95% of these carcinomas occur in patients over 40. They develop on hair-bearing skin, most commonly on sun-exposed areas. Approximately 85% are found on the head and neck and the remaining 15% on the trunk and extremities. Basal cell carcinoma usually grows in a slow and indolent fashion. However, if untreated, the tumor may invade the subcutaneous fat, skeletal muscle and bone. Distant metastases are rare. Excision, curettage and irradiation cure most basal cell carcinomas.


pancytopenia

description: A finding of low numbers of red and white blood cells and platelets in the peripheral blood.


name: TR10D_HUMAN Tumor necrosis factor receptor superfamily member 10D (sprot)

description: A tumor necrosis factor receptor superfamily member 10D that is encoded in the genome of human.


MERCAPTOPURINE

A thiol that is the tautomer of mercaptopurine.


focal dermal hypoplasia

description: A syndrome characterized by a polymorphic cutaneous disorder and highly variable anomalies affecting the eyes, teeth, skeleton and the central nervous, urinary, gastrointestinal and cardiovascular systems.


ENOB_HUMAN Beta-enolase (sprot)

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


name: L1CAM_HUMAN Neural cell adhesion molecule L1 (sprot)

description: A neural cell adhesion molecule L1 that is encoded in the genome of human.


name: RL29_HUMAN Large ribosomal subunit protein eL29 (sprot)

description: A large ribosomal subunit protein eL29 that is encoded in the genome of human.


chronic granulomatous disease

description: Chronic granulomatous disease (CGD) is a rare primary immunodeficiency, mainly affecting phagocytes, which is characterized by an increased susceptibility to severe and recurrent bacterial and fungal infections, along with the development of granulomas.


scleroderma

description: Scleroderma is a rare autoimmune connective tissue disorder characterized by abnormal hardening of the skin and, sometimes, other organs. It is classified into two main forms: localized scleroderma and systemic sclerosis (SSc), the latter comprising three subsets; diffuse cutaneous SSc (dcSSc), limited cutaneous SSc (lcSSc) and limited SSc (lSSc).


name: CDHR5_HUMAN Cadherin-related family member 5 (sprot)

description: A cadherin-related family member 5 that is encoded in the genome of human.


primary ovarian failure

description: Absent or premature cessation of ovarian function due to a pathologic process originating within the ovaries.


name: SH23A_HUMAN SH2 domain-containing protein 3A (sprot)

description: An SH2 domain-containing protein 3A that is encoded in the genome of human.


name: ARHGH_HUMAN Rho guanine nucleotide exchange factor 17 (sprot)

description: A Rho guanine nucleotide exchange factor 17 that is encoded in the genome of human.


name: CP17A_HUMAN Steroid 17-alpha-hydroxylase/17,20 lyase (sprot)

description: A cytochrome P450 17A1 that is encoded in the genome of human.


name: non-arteritic anterior ischemic optic neuropathy

description: An acute condition characterized by sudden visual loss (usually discovered in the morning), optic disc edema at onset, optic disc-related visual field defects. Nonarteritic anterior ischemic optic neuropathy can be associated with flame hemorrhages on the swollen disk or nearby neuroretinal layer, and sometimes with nearby cotton-wool exudates.


conductive hearing loss disorder

description: Hearing loss caused by impaired transmission of signals from the external auditory canal or middle ear to the cochlea.


AQP8_HUMAN Aquaporin-8 (sprot)

An aquaporin-8 that is encoded in the genome of human.


name: GDIR2_HUMAN Rho GDP-dissociation inhibitor 2 (sprot)

description: A Rho GDP-dissociation inhibitor 2 that is encoded in the genome of human.


propyphenazone

A pyrazolone derivative that is antipyrine substituted at C-4 by an isopropyl group.


RBTN2_HUMAN Rhombotin-2 (sprot)

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


polycythemia

description: Abnormally high mass or concentration of red blood cells in the blood, either due to an increase in erythropoiesis or a decrease in plasma volume.


name: FSIP1_HUMAN Fibrous sheath-interacting protein 1 (sprot)

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


name: REG4_HUMAN Regenerating islet-derived protein 4 (sprot)

description: A regenerating islet-derived protein 4 that is encoded in the genome of human.


arterial disorder

description: An impairment of the structure or function of the blood vessels which carry blood away from the heart.


angiosarcoma

description: A malignant tumor arising from the endothelial cells of the blood vessels. Microscopically, it is characterized by frequently open vascular anastomosing and branching channels. The malignant cells that line the vascular channels are spindle or epithelioid and often display hyperchromatic nuclei. Angiosarcomas most frequently occur in the skin and breast. Patients with long-standing lymphedema are at increased risk of developing angiosarcoma.


name: MRC2_HUMAN C-type mannose receptor 2 (sprot)

description: A C-type mannose receptor 2 that is encoded in the genome of human.


name: MKRN2_HUMAN E3 ubiquitin-protein ligase makorin-2 (sprot)

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


alprenolol

A secondary alcohol that is propan-2-ol substituted by a 2-allylphenoxy group at position 1 and an isopropylamino group at position 3. It is a beta-adrenergic antagonist used as a antihypertensive, anti-arrhythmia and a sympatholytic agent.


Wilms tumor

description: An embryonal neoplasm characterized by the presence of epithelial, mesenchymal, and blastema components. The vast majority of cases arise from the kidney. A small number of cases with morphologic features resembling Wilms tumor of the kidney have been reported arising from the ovary and the cervix.


P2RX1_HUMAN P2X purinoceptor 1 (sprot)

A P2X purinoceptor 1 that is encoded in the genome of human.


PHENYLETHYL ALCOHOL

A primary alcohol that is ethanol substituted by a phenyl group at position 2.


ingenol mebutate

A tetracyclic diterpenoid ester obtained by formal condensation of the carboxy group of (2Z)-2-methylbut-2-enoic (angelic) acid with the 3-hydroxy group of ingenol. Used for the topical treatment of actinic keratosis.


endometrial serous adenocarcinoma

description: A high grade, aggressive adenocarcinoma arising from the endometrium. It is characterized by the presence of complex papillary patterns with cellular budding. Atypical mitoses, necrosis, and psammoma bodies may be present. It is classified as type II endometrial carcinoma and it is not associated with endometrial hyperplasia. It tends to invade deeply into the myometrium and spreads into the lymphatic vessels. Patients frequently present with spread of the tumor beyond the uterus at the time of diagnosis. The prognosis is usually poor.


name: AT1A1_HUMAN Sodium/potassium-transporting ATPase subunit alpha-1 (sprot)

description: A sodium/potassium-transporting ATPase subunit alpha-1 that is encoded in the genome of human.


name: GLIS2_HUMAN Zinc finger protein GLIS2 (sprot)

description: A zinc finger protein GLIS2 that is encoded in the genome of human.


name: MTMR7_HUMAN Myotubularin-related protein 7 (sprot)

description: A myotubularin-related protein 7 that is encoded in the genome of human.


canine transitional cell carcinoma

description: A malignant neoplasm that affects dogs, arising from transitional epithelium.


sodium benzoate

An organic sodium salt resulting from the replacement of the proton from the carboxy group of benzoic acid by a sodium ion.


description: Ornithine transcarbamylase deficiency (OTCD) is a disorder of urea cycle metabolism and ammonia detoxification characterized by either a severe, neonatal-onset disease found almost exclusively in males, or later-onset (partial) forms of the disease. Both present with episodes of hyperammonemia that can be fatal and which can lead to neurological complications.


name: NFIA_HUMAN Nuclear factor 1 A-type (sprot)

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


Venous malformation

description: A vascular malformation resulting from a developmental error of venous tissue composed of dysmorphic channels lined by flattened endothelium and exhibiting slow turnover. A venous malformation may present as a blue patch on the skin ranging to a soft blue mass. Venous malformations are easily compressible and usually swell in thewhen venous pressure increases (e.g., when held in a dependent position or when a child cries). They may be relatively localized or quite extensive within an anatomic region.


Melkersson-Rosenthal syndrome

description: The Melkersson-Rosenthal syndrome is a rare disorder characterized by a triad of recurrent orofacial swelling, relapsing facial paralysis and fissured tongue and onset in childhood or early adolescence. It has an estimated incidence of 8/10,000. The etiology is unknown but hereditary predisposition is suspected.


canertinib

A quinazoline compound having a 3-chloro-4-fluoroanilino group at the 4-position, a propenamido group at the 6-position, and a 3-morpholinopropoxy group at the 7-position.


name: CXB3_HUMAN Gap junction beta-3 protein (sprot)

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


celastrol

A pentacyclic triterpenoid that is 24,25,26-trinoroleana-1(10),3,5,7-tetraen-29-oic acid bearing an oxo substituent at position 2, a hydroxy substituent at position 3 and two methyl groups at positions 9 and 13. An antioxidant and anti-inflammatory agent. Potently inhibits lipid peroxidation in mitochondria and inhibits TNF-alpha-induced NFkappaB activation. Also shown to inhibit topoisomerase II activity in vitro (IC50 = 7.41 muM).


name: ANC2_HUMAN Anaphase-promoting complex subunit 2 (sprot)

description: An anaphase-promoting complex subunit 2 that is encoded in the genome of human.


name: RACK1_HUMAN Small ribosomal subunit protein RACK1 (sprot)

description: A small ribosomal subunit protein RACK1 that is encoded in the genome of human.


name: TF3B_HUMAN Transcription factor IIIB 90 kDa subunit (sprot)

description: A transcription factor IIIB 90 kDa subunit that is encoded in the genome of human.


name: BRF2_HUMAN Transcription factor IIIB 50 kDa subunit (sprot)

description: A transcription factor IIIB 50 kDa subunit that is encoded in the genome of human.


name: primary melanoma of the central nervous system

description: A melanoma that affects the central nervous system. It is characterized by pleomorphism, melanin pigmentation, a high mitotic rate, necrosis, and hemorrhage. It is a highly aggressive and radioresistant tumor. The prognosis is usually poor.


name: CKLF6_HUMAN CKLF-like MARVEL transmembrane domain-containing protein 6 (sprot)

description: A CKLF-like MARVEL transmembrane domain-containing protein 6 that is encoded in the genome of human.


name: NCF2_HUMAN Neutrophil cytosol factor 2 (sprot)

description: A neutrophil cytosol factor 2 that is encoded in the genome of human.


name: LYPA2_HUMAN Acyl-protein thioesterase 2 (sprot)

description: An acyl-protein thioesterase 2 that is encoded in the genome of human.


name: FGFP3_HUMAN Fibroblast growth factor-binding protein 3 (sprot)

description: A fibroblast growth factor-binding protein 3 that is encoded in the genome of human.


name: KLC3_HUMAN Kinesin light chain 3 (sprot)

description: A kinesin light chain 3 that is encoded in the genome of human.


name: CH10_HUMAN 10 kDa heat shock protein, mitochondrial (sprot)

description: A 10 kDa heat shock protein, mitochondrial that is encoded in the genome of human.


perflubron

A haloalkane that is perfluorooctane in which a fluorine attached to one of the terminal carbons has been replaced by a bromine.


intestinal disorder

description: A non-neoplastic or neoplastic disorder that affects the small or large intestine.


pediatric osteosarcoma

description: An osteosarcoma occurring in childhood.


name: GBRA2_HUMAN Gamma-aminobutyric acid receptor subunit alpha-2 (sprot)

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


name: SOAT2_HUMAN Sterol O-acyltransferase 2 (sprot)

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


HOLOMYCIN

A dithiolopyrrolone antibiotic that is 4,5-dihydro[1,2]dithiolo[4,3-b]pyrrole in which the hydrogens at positions 5 and 6 have been replaced by oxo and acetamido groups, respectively. It is an inhibitor of DNA-dependent RNA polymerase, and exhibits antibacterial and antitumour properties.


sotalol

A sulfonamide that is N-phenylmethanesulfonamide in which the phenyl group is substituted at position 4 by a 1-hydroxy-2-(isopropylamino)ethyl group. It has both beta-adrenoreceptor blocking (Vaughan Williams Class II) and cardiac action potential duration prolongation (Vaughan Williams Class III) antiarrhythmic properties. It is used (usually as the hydrochloride salt) for the management of ventricular and supraventricular arrhythmias.


name: FADS3_HUMAN Fatty acid desaturase 3 (sprot)

description: A fatty acid desaturase 3 that is encoded in the genome of human.


SODIUM PHENYLBUTYRATE

The organic sodium salt of 4-phenylbutyric acid. A prodrug for phenylacetate, it is used to treat urea cycle disorders.


name: SASH1_HUMAN SAM and SH3 domain-containing protein 1 (sprot)

description: A SAM and SH3 domain-containing protein 1 that is encoded in the genome of human.


name: SIPA1_HUMAN Signal-induced proliferation-associated protein 1 (sprot)

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


name: ANKR1_HUMAN Ankyrin repeat domain-containing protein 1 (sprot)

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


OXLA_HUMAN L-amino-acid oxidase (sprot)

An L-amino-acid oxidase that is encoded in the genome of human.


name: PSF2_HUMAN DNA replication complex GINS protein PSF2 (sprot)

description: A DNA replication complex GINS protein PSF2 that is encoded in the genome of human.


enteritis

description: Inflammation of the small intestine.


name: TAF1B_HUMAN TATA box-binding protein-associated factor RNA polymerase I subunit B (sprot)

description: A TATA box-binding protein-associated factor RNA polymerase I subunit B that is encoded in the genome of human.


WNT7B_HUMAN Protein Wnt-7b (sprot)

A protein Wnt-7b that is encoded in the genome of human.


nisoxetine

A secondary amino compound that is N-methyl-3-phenylpropan-1-amine substituted at position 3 by a 2-methoxyphenoxy group.


name: GSTT1_HUMAN Glutathione S-transferase theta-1 (sprot)

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


oxatomide

A member of the class of benzimidazoles that is 1,3-dihydro-2H-benzimidazol-2-one substituted by a 3-[4-(diphenylmethyl)piperazin-1-yl]propyl group at position 1. It is an anti-allergic drug.


name: NAKD2_HUMAN NAD kinase 2, mitochondrial (sprot)

description: An NAD kinase 2, mitochondrial that is encoded in the genome of human.


phosphatidylethanolamine (P-18:0/20:4)

A phosphatidylethanolamine P-38:4 in which the 1-alkenyl group contains 18 carbons and no additional double bonds while the acyl group contains 20 carbons and 4 double bonds.


name: S13A5_HUMAN Na(+)/citrate cotransporter (sprot)

description: A Na(+)/citrate cotransporter that is encoded in the genome of human.


phosphatidylethanolamine (18:0/18:1)

A phosphatidylethanolamine 36:1 in which the acyl group at C-1 contains 18 carbons and no double bonds while that at C-2 contains 18 carbons and 1 double bond.


myositis ossificans

description: A disorder characterized by non-neoplastic bone formation in soft tissues. It usually follows blunt trauma and bleeding in the deep soft tissues.


SALL3_HUMAN Sal-like protein 3 (sprot)

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


name: S38A6_HUMAN Solute carrier family 38 member 6 (sprot)

description: A solute carrier family 38 member 6 that is encoded in the genome of human.


QUINALIZARIN

A tetrahydroxyanthraquinone having the four hydroxy groups at the 1-, 2-, 5- and 8-positions.


name: ST4A1_HUMAN Sulfotransferase 4A1 (sprot)

description: A sulfotransferase 4A1 that is encoded in the genome of human.


xanthogranuloma

description: A reactive lesion characterized by the presence of a bland histiocytic cellular infiltrate admixed with giant cells.


name: PNMT_HUMAN Phenylethanolamine N-methyltransferase (sprot)

description: A phenylethanolamine N-methyltransferase that is encoded in the genome of human.


MOES_HUMAN Moesin (sprot)

A moesin that is encoded in the genome of human.


name: PP1B_HUMAN Serine/threonine-protein phosphatase PP1-beta catalytic subunit (sprot)

description: A serine/threonine-protein phosphatase PP1-beta catalytic subunit that is encoded in the genome of human.


Sphincter of Oddi dyskinesia

description: Reduced motility through the sphincter of Oddi, resulting in impedance of bile and pancreatic juice flow from the common bile duct into the duodenum.


name: CFLAR_HUMAN CASP8 and FADD-like apoptosis regulator (sprot)

description: A CASP8 and FADD-like apoptosis regulator that is encoded in the genome of human.


gastroparesis

description: Paralysis of the muscles of the stomach wall resulting in delayed emptying of the gastric contents into the small intestine.


estrone sulphate

A steroid sulfate that is the 3-sulfate of estrone.


name: MSRB2_HUMAN Methionine-R-sulfoxide reductase B2, mitochondrial (sprot)

description: A methionine-R-sulfoxide reductase B2, mitochondrial that is encoded in the genome of human.


droxidopa

A serine derivative that is L-serine substituted at the beta-position by a 3,4-dihydroxyphenyl group. A prodrug for noradrenalone, it is used for treatment of neurogenic orthostatic hypotension


eluxadoline

An amino acid amide obtained by the formal condensation of the carboxy group of 4-carbamoyl-2,6-dimethyl-L-phenylalanine with the secondary amino group of 2-methoxy-5-({[(1S)-1-(4-phenylimidazol-2-yl)ethyl]amino}methyl)benzoic acid. It has mixed opioid receptor activity and is used for treatment of  irritable bowel syndrome with diarrhoea.


DICLOFENAC SODIUM

The sodium salt of diclofenac.


name: TRI26_HUMAN Tripartite motif-containing protein 26 (sprot)

description: A tripartite motif-containing protein 26 that is encoded in the genome of human.


pentobarbitone

A member of the class of barbiturates, the structure of which is that of barbituric acid substituted at C-5 by ethyl and sec-pentyl groups.


bladder neck obstruction

description: Blockage of the opening between the bladder and the urethra resulting in the reduction or prevention of the urine flow from the bladder into the urethra.


VANILLIC ACID

A monohydroxybenzoic acid that is 4-hydroxybenzoic acid substituted by a methoxy group at position 3.


name: NDUB3_HUMAN NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 3 (sprot)

description: An NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 3 that is encoded in the genome of human.


GREB1_HUMAN Protein GREB1 (sprot)

A protein GREB1 that is encoded in the genome of human.


PEF1_HUMAN Peflin (sprot)

A peflin that is encoded in the genome of human.


dihydroergotamine

Ergotamine in which a single bond replaces the double bond between positions 9 and 10. A semisynthetic ergot alkaloid with weaker oxytocic and vasoconstrictor properties than ergotamine, it is used (as the methanesulfonic or tartaric acid salts) for the treatment of migraine and orthostatic hypotension.


vaginal carcinoma

description: A carcinoma arising from the vaginal epithelium. The majority of vaginal carcinomas are squamous cell carcinomas.


mimosine

An L-alpha-amino acid that is propionic acid substituted by an amino group at position 2 and a 3-hydroxy-4-oxopyridin-1(4H)-yl group at position 3 (the 2S-stereoisomer). It a non-protein plant amino acid isolated from Mimosa pudica.


MCPH1_HUMAN Microcephalin (sprot)

A microcephalin that is encoded in the genome of human.


name: GEMI2_HUMAN Gem-associated protein 2 (sprot)

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


name: PDRG1_HUMAN p53 and DNA damage-regulated protein 1 (sprot)

description: A p53 and DNA damage-regulated protein 1 that is encoded in the genome of human.


vanoxerine dihydrochloride

A hydrochloride salt that is obtained by reaction of vanoxerine with two equivalents of hydrogen chloride. Potent, competitive inhibitor of dopamine uptake (Ki = 1 nM for inhibition of striatal dopamine uptake). Has > 100-fold lower affinity for the noradrenalin and 5-HT uptake carriers. Also a potent sigma ligand (IC50 = 48 nM). Centrally active following systemic administration.


name: NAL12_HUMAN NACHT, LRR and PYD domains-containing protein 12 (sprot)

description: A NACHT, LRR and PYD domains-containing protein 12 that is encoded in the genome of human.


bicuculline

A benzylisoquinoline alkaloid that is 6-methyl-5,6,7,8-tetrahydro[1,3]dioxolo[4,5-g]isoquinoline which is substituted at the 5-pro-S position by a (6R)-8-oxo-6,8-dihydrofuro[3,4-e][1,3]benzodioxol-6-yl group. A light-sensitive competitive antagonist of GABAA receptors. It was originally identified in 1932 in plant alkaloid extracts and has been isolated from Dicentra cucullaria, Adlumia fungosa, Fumariaceae, and several Corydalis species.


nitrosamine

N-Nitroso amines, compounds of the structure R2NNO. Compounds RNHNO are not ordinarily isolable, but they, too, are nitrosamines. The name is a contraction of N-nitrosoamine and, as such, does not require the N locant.


name: AIFM1_HUMAN Apoptosis-inducing factor 1, mitochondrial (sprot)

description: An apoptosis-inducing factor 1, mitochondrial that is encoded in the genome of human.


name: CCAR1_HUMAN Cell division cycle and apoptosis regulator protein 1 (sprot)

description: A cell division cycle and apoptosis regulator protein 1 that is encoded in the genome of human.


dimercaprol

A dithiol that is propane-1,2-dithiol in which one of the methyl hydrogens is replaced by a hydroxy group. a chelating agent originally developed during World War II as an experimental antidote against the arsenic-based poison gas Lewisite, it has been used clinically since 1949 for the treatment of poisoning by arsenic, mercury and gold. It can also be used for treatment of poisoning by antimony, bismuth and possibly thallium, and (with sodium calcium edetate) in cases of acute leaad poisoning. Administration is by (painful) intramuscular injection of a suspension of dimercaprol in peanut oil, typically every 4 hours for 2-10 days depending on the toxicity. In the past, dimercaprol was also used for the treatment of Wilson's disease, a severely debilitating genetic disorder in which the body tends to retain copper, with resultant liver and brain injury.


phosphatidylcholine (22:6/22:6)

A phosphatidylcholine 44:12 in which the fatty acyl groups at positions 1 and 2 are both specified as C22:6.


name: RASF6_HUMAN Ras association domain-containing protein 6 (sprot)

description: A Ras association domain-containing protein 6 that is encoded in the genome of human.


name: RGS7_HUMAN Regulator of G-protein signaling 7 (sprot)

description: A regulator of G-protein signaling 7 that is encoded in the genome of human.


name: TXD17_HUMAN Thioredoxin domain-containing protein 17 (sprot)

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


name: SFSWA_HUMAN Splicing factor, suppressor of white-apricot homolog (sprot)

description: A splicing factor, arginine/serine-rich 8 that is encoded in the genome of human.


nonoxinol

A tergitol polymer consisting of nonylbenzene with a nine-membered poly(ethylene glycol) moiety attached at position 4.


remikiren

An L-histidine derivative that is L-histidine in which one of the amino hydrogens is replaced by a (2S)-2-[(2-methylpropane-2-sulfonyl)methyl]-3-phenylpropanoyl group and the carboxy group is replaced by a [(2S,3R,4S)-1-cyclohexyl-4-cyclopropyl-3,4-dihydroxybutan-2-yl]amino group. It is a renin inhibitor which was under development for the treatment of hypertension (now discontinued).


name: NDF2_HUMAN Neurogenic differentiation factor 2 (sprot)

description: A neurogenic differentiation factor 2 that is encoded in the genome of human.


name: TMM33_HUMAN Transmembrane protein 33 (sprot)

description: A transmembrane protein 33 that is encoded in the genome of human.


Perivascular cardiac fibrosis

description: A type of myocardial fibrosis characterized by excessive diffuse collagen accumulation concentrated in perivascular spaces.


name: CCAR2_HUMAN Cell cycle and apoptosis regulator protein 2 (sprot)

description: A cell cycle and apoptosis regulator protein 2 that is encoded in the genome of human.


name: RL12_HUMAN Large ribosomal subunit protein uL11 (sprot)

description: A eukaryotic-type large ribosomal subunit protein uL11 that is encoded in the genome of human.


name: RS25_HUMAN Small ribosomal subunit protein eS25 (sprot)

description: A small ribosomal subunit protein eS25 that is encoded in the genome of human.


name: GRP2_HUMAN RAS guanyl-releasing protein 2 (sprot)

description: A RAS guanyl-releasing protein 2 that is encoded in the genome of human.


name: SIX2_HUMAN Homeobox protein SIX2 (sprot)

description: A homeobox protein SIX2 that is encoded in the genome of human.


fenfluramine

A  secondary amino compound that is 1-phenyl-propan-2-amine in which one of the meta-hydrogens is substituted by trifluoromethyl, and one of the hydrogens attached to the nitrogen is substituted by an ethyl group. It binds to the serotonin reuptake pump, causing inhbition of serotonin uptake and release of serotonin. The resulting increased levels of serotonin lead to greater serotonin receptor activation which in turn lead to enhancement of serotoninergic transmission in the centres of feeding behavior located in the hypothalamus. This suppresses the appetite for carbohydrates. Fenfluramine was used as the hydrochloride for treatment of diabetes and obesity. It was withdrawn worldwide after reports of heart valve disease and pulmonary hypertension.


name: NDUA9_HUMAN NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 9, mitochondrial (sprot)

description: An NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 9, mitochondrial that is encoded in the genome of human.


name: CXCL7_HUMAN Platelet basic protein (sprot)

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


name: TLE4_HUMAN Transducin-like enhancer protein 4 (sprot)

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


name: FEZF2_HUMAN Fez family zinc finger protein 2 (sprot)

description: A fez family zinc finger protein 2 that is encoded in the genome of human.


name: GALT1_HUMAN Polypeptide N-acetylgalactosaminyltransferase 1 (sprot)

description: A polypeptide N-acetylgalactosaminyltransferase 1 that is encoded in the genome of human.


name: NR1D2_HUMAN Nuclear receptor subfamily 1 group D member 2 (sprot)

description: A nuclear receptor subfamily 1 group D member 2 that is encoded in the genome of human.


name: RORB_HUMAN Nuclear receptor ROR-beta (sprot)

description: A nuclear receptor ROR-beta that is encoded in the genome of human.


Dysmenorrhea

description: Pain during menstruation that interferes with daily activities.


name: NDUS8_HUMAN NADH dehydrogenase [ubiquinone] iron-sulfur protein 8, mitochondrial (sprot)

description: An NADH dehydrogenase [ubiquinone] iron-sulfur protein 8, mitochondrial that is encoded in the genome of human.


cadaverine

An alkane-alpha,omega-diamine comprising a straight-chain pentane core with amino substitutents at positions 1 and 5. A colourless syrupy liquid diamine with a distinctive unpleasant odour, it is a homologue of putresceine and is formed by the bacterial decarboxylation of lysine that occurs during protein hydrolysis during putrefaction of animal tissue. It is also found in plants such as soyabean.


name: TCPG_HUMAN T-complex protein 1 subunit gamma (sprot)

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


β-alanine

A naturally-occurring beta-amino acid comprising propionic acid with the amino group in the 3-position.


seminoma

description: A radiosensitive malignant germ cell tumor found in the testis (especially undescended), and extragonadal sites (anterior mediastinum and pineal gland). It is characterized by the presence of uniform cells with clear or dense cytoplasm which contains glycogen, and by a large nucleus which contains one or more nucleoli. The neoplastic germ cells form aggregates separated by fibrous septa. The fibrous septa contain chronic inflammatory cells, mainly lymphocytes.


SELENOCYSTEINE

The L-enantiomer of selenocysteine.


name: PHLA1_HUMAN Pleckstrin homology-like domain family A member 1 (sprot)

description: A pleckstrin homology-like domain family A member 1 that is encoded in the genome of human.


PATULIN

A furopyran and lactone that is (2H-pyran-3(6H)-ylidene)acetic acid which is substituted by hydroxy groups at positions 2 and 4 and in which the hydroxy group at position 4 has condensed with the carboxy group to give the corresponding bicyclic lactone. A mycotoxin produced by several species of Aspergillus and Penicillium, it has antibiotic properties but has been shown to be carcinogenic and mutagenic.


name: KIF4B_HUMAN Chromosome-associated kinesin KIF4B (sprot)

description: A chromosome-associated kinesin KIF4B that is encoded in the genome of human.


name: CBX4_HUMAN E3 SUMO-protein ligase CBX4 (sprot)

description: An E3 SUMO-protein ligase CBX4 that is encoded in the genome of human.


phosphatidylethanolamine (P-16:0/22:2)

A phosphatidylethanolamine P-38:2 in which the 1-alkenyl group contains 16 carbons and no additional double bonds while the acyl group contains 22 carbons and 2 double bonds.


2-PICOLINIC ACID

A pyridinemonocarboxylic acid in which the carboxy group is located at position 2. It is an intermediate in the metabolism of tryptophan.


name: COQ7_HUMAN 5-demethoxyubiquinone hydroxylase, mitochondrial (sprot)

description: A ubiquinone biosynthesis protein COQ7 that is encoded in the genome of human.


classic Hodgkin lymphoma

description: Classical Hodgkin lymphoma (CHL) is a B-cell lymphoma characterized histologically by the presence of large mononuclear Hodgkin cells and multinucleated Reed-Sternberg (HRS) cells.


polysorbate 80

A polymer composed of PEG-ylated sorbitan, where the total number of poly(ethylene glycol) units is 20 (w + x + y + z = 20) and a single terminal is capped by an oleoyl group.


name: RFA3_HUMAN Replication protein A 14 kDa subunit (sprot)

description: A replication protein A 14 kDa subunit that is encoded in the genome of human.


name: TBPL1_HUMAN TATA box-binding protein-like 1 (sprot)

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


HXK4_HUMAN Hexokinase-4 (sprot)

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


name: OVOL1_HUMAN Putative transcription factor Ovo-like 1 (sprot)

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


name: NQO2_HUMAN Ribosyldihydronicotinamide dehydrogenase [quinone] (sprot)

description: A ribosyldihydronicotinamide dehydrogenase [quinone] that is encoded in the genome of human.


name: Functional abnormality of the gastrointestinal tract

description: Abnormal functionality of the gastrointestinal tract.


PB1_HUMAN Protein polybromo-1 (sprot)

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


ovostatin homolog 2 (human)

An ovostatin homolog 2 that is encoded in the genome of human.


name: BATF3_HUMAN Basic leucine zipper transcriptional factor ATF-like 3 (sprot)

description: A basic leucine zipper transcriptional factor ATF-like 3 that is encoded in the genome of human.


LMNB2_HUMAN Lamin-B2 (sprot)

A lamin-B2 that is encoded in the genome of human.


lichen amyloidosis

description: Lichen amyloidosis is a rare chronic form of cutaneous amyloidosis, a skin disease characterized by the accumulation of amyloid deposits in the dermis, clinically characterized by the development of pruritic, often pigmented, hyperkeratotic papules on trunk and extremities, especially on the shins, and histologically by the deposition of amyloid or amyloid-like proteins in the papillary dermis.


phosphatidylethanolamine (16:0/20:4)

A phosphatidylethanolamine 36:4 in which the acyl group at C-1 contains 16 carbons and no double bonds while that at C-2 contains 20 carbons and 4 double bonds.


hereditary hemochromatosis

description: An inherited metabolic disorder characterized by iron accumulation in the tissues.


ACTB_HUMAN Actin, cytoplasmic 1 (sprot)

An actin, cytoplasmic 1 that is encoded in the genome of human.


name: CLAP1_HUMAN CLIP-associating protein 1 (sprot)

description: A CLIP-associating protein 1 that is encoded in the genome of human.


name: S19A2_HUMAN Thiamine transporter 1 (sprot)

description: A thiamine transporter 1 that is encoded in the genome of human.


gliosarcoma

description: A rare histological variant of glioblastoma (WHO grade IV) characterized by a biphasic tissue pattern with alternating areas displaying glial and mesenchymal differentiation (WHO).


bile duct cancer

description: A malignant neoplasm involving the bile duct


CLD18_HUMAN Claudin-18 (sprot)

A claudin-18 that is encoded in the genome of human.


phosphatidylethanolamine (17:0/22:6)

A phosphatidylethanolamine 39:6 in which the acyl group at C-1 contains 17 carbons and no double bonds while that at C-2 contains 22 carbons and 6 double bonds.


name: PDLI5_HUMAN PDZ and LIM domain protein 5 (sprot)

description: A PDZ and LIM domain protein 5 that is encoded in the genome of human.


name: MYO1C_HUMAN Unconventional myosin-Ic (sprot)

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


splenic marginal zone lymphoma

description: Splenic marginal zone lymphoma is a rare, indolent B-cell non-Hodgkin lymphoma characterized by abnormal clonal proliferation of mature B-lymphocytes with involvement in the spleen, bone marrow and, frequently, the blood. It usually presents with splenomegaly, lymphocytosis, anemia and/or thrombocytopenia. Hepatitis C virus and autoimmune manifestations, such as autoimmune hemolytic anemia and autoimmune thrombocytopenia, could be associated.


temporal lobe epilepsy

description: A localization-related (focal) form of epilepsy characterized by recurrent seizures that arise from foci within the temporal lobe, most commonly from its mesial aspect. A wide variety of psychic phenomena may be associated, including illusions, hallucinations, dyscognitive states, and affective experiences. The majority of complex partial seizures (see epilepsy, complex partial) originate from the temporal lobes. Temporal lobe seizures may be classified by etiology as cryptogenic, familial, or symptomatic (i.e., related to an identified disease process or lesion). (From Adams et al., Principles of Neurology, 6th ed, p321)


name: ACSL6_HUMAN Long-chain-fatty-acid--CoA ligase 6 (sprot)

description: A long-chain-fatty-acid--CoA ligase 6 that is encoded in the genome of human.


HELENINE

A sesquiterpene lactone that is 3a,5,6,7,8,8a,9,9a-octahydronaphtho[2,3-b]furan-2-one bearing two methyl substituents at positions 5 and 8a as well as a methylidene substituent at position 3.


name: DTX4_HUMAN E3 ubiquitin-protein ligase DTX4 (sprot)

description: An E3 ubiquitin-protein ligase DTX4 that is encoded in the genome of human.


alpha-D-glucosamine 6-phosphate

A 2-amino-2-deoxy-D-glucopyranose 6-phosphate that has an alpha-configuration at the anomeric position.


doxepin

A dibenzooxepine that is 6,11-dihydrodibenzo[b,e]oxepine substituted by a 3-(dimethylamino)propylidene group at position 11. It is used as an  antidepressant drug.


name: PGRP2_HUMAN N-acetylmuramoyl-L-alanine amidase (sprot)

description: An N-acetylmuramoyl-L-alanine amidase that is encoded in the genome of human.


name: HXB2_HUMAN Homeobox protein Hox-B2 (sprot)

description: A homeobox protein Hox-B2 that is encoded in the genome of human.


procarbazine

A benzamide obtained by formal condensation of the carboxy group of 4-[(2-methylhydrazino)methyl]benzoic acid with the amino group of isopropylamine. An antineoplastic chemotherapy drug used for treatment of Hodgkin's lymphoma. Metabolism yields azo-procarbazine and hydrogen peroxide, which results in the breaking of DNA strands.


biperiden

A member of the class of piperidines that is N-propylpiperidine in which the methyl hydrogens have been replaced by hydroxy, phenyl, and 5-norbornen-2-yl groups. A muscarinic antagonist affecting both the central and peripheral nervous systems, it is used in the treatment of all forms of Parkinson's disease.


Visual loss

description: Loss of visual acuity (implying that vision was better at a certain time point in life). Otherwise the term reduced visual acuity should be used (or a subclass of that).


nordihydroguiaretic acid

A tetrol that is butane which is substituted at positions 2 and 3 by 3,4-dihydroxybenzyl groups. Masoprocol, the meso-form found in the leaves of the creosote bush (Larrea divaricata), is a potent lipoxygenase inhibitor.


ethoxzolamide

A sulfonamide that is 1,3-benzothiazole-2-sulfonamide which is substituted by an ethoxy group at position 6. A carbonic anhydrase inhibitor, it has been used in the treatment of glaucoma, and as a diuretic.


CAH2_HUMAN Carbonic anhydrase 2 (sprot)

A vertebrate-type carbonic anhydrase 2 that is encoded in the genome of human.


cervical adenocarcinoma

description: An adenocarcinoma arising from the cervical epithelium. It accounts for approximately 15% of invasive cervical carcinomas. Increased numbers of sexual partners and human papillomavirus (HPV) infection are risk factors. Grossly, advanced cervical adenocarcinoma may present as an exophytic mass, an ulcerated lesion, or diffuse cervical enlargement. Microscopically, the majority of cervical adenocarcinomas are of the endocervical (mucinous) type.


GENTISYL ALCOHOL

An aromatic primary alcohol that is benzyl alcohol substituted by hydroxy groups at positions 2 and 5.


name: ABHD6_HUMAN Monoacylglycerol lipase ABHD6 (sprot)

description: A monoacylglycerol lipase ABHD6 that is encoded in the genome of human.


mismatch repair cancer syndrome 1

description: A rare childhood cancer predisposition syndrome caused by biallelic inheritance of mutations in MLH1, MSH2, MSH6, or PMS2 genes. It is characterized by the development of childhood cancers, usually hematological malignancies and/or brain tumors, and colorectal cancers with multiple intestinal polyps. The majority of patients show signs of neurofibromatosis type 1.


name: R51A1_HUMAN RAD51-associated protein 1 (sprot)

description: A RAD51-associated protein 1 that is encoded in the genome of human.


name: porcine reproductive and respiratory syndrome

description: A syndrome characterized by outbreaks of late term abortions, high numbers of stillbirths and mummified or weak newborn piglets, and respiratory disease in young unweaned and weaned pigs. It is caused by porcine respiratory and reproductive syndrome virus. (Radostits et al., Veterinary Medicine, 8th ed, p1048)


name: IPSP_HUMAN Plasma serine protease inhibitor (sprot)

description: A plasma serine protease inhibitor that is encoded in the genome of human.


PEPD_HUMAN Xaa-Pro dipeptidase (sprot)

An Xaa-Pro dipeptidase that is encoded in the genome of human.


sulfone

An organosulfur compound having the structure RS(=O)2R (R =/= H).


name: CREB3_HUMAN Cyclic AMP-responsive element-binding protein 3 (sprot)

description: A cyclic AMP-responsive element-binding protein 3 that is encoded in the genome of human.


homogentisic acid

A dihydroxyphenylacetic acid having the two hydroxy substituents at the 2- and 5-positions.


inborn errors of metabolism

description: An inherited disorder resulting from an enzyme defect in biochemical and metabolic pathways affecting proteins, fats, carbohydrates metabolism or organelle function.


name: ZRAN1_HUMAN Ubiquitin thioesterase ZRANB1 (sprot)

description: A ubiquitin thioesterase ZRANB1 that is encoded in the genome of human.


name: SMYD3_HUMAN Histone-lysine N-methyltransferase SMYD3 (sprot)

description: A histone-lysine N-methyltransferase SMYD3 that is encoded in the genome of human.


DERM_HUMAN Dermatopontin (sprot)

A dermatopontin that is encoded in the genome of human.


MILR1_HUMAN Allergin-1 (sprot)

An allergin-1 that is encoded in the genome of human.


name: AGM1_HUMAN Phosphoacetylglucosamine mutase (sprot)

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


name: KCNE1_HUMAN Potassium voltage-gated channel subfamily E member 1 (sprot)

description: A potassium voltage-gated channel subfamily E member 1 that is encoded in the genome of human.


name: TIFA_HUMAN TRAF-interacting protein with FHA domain-containing protein A (sprot)

description: A TRAF-interacting protein with FHA domain-containing protein A that is encoded in the genome of human.


name: NUB1_HUMAN NEDD8 ultimate buster 1 (sprot)

description: A NEDD8 ultimate buster 1 that is encoded in the genome of human.


esophageal melanoma

description: A melanoma affecting the esophageal wall. Melanoma in the esophagus is more commonly metastatic than primary. Primary melanomas of the esophagus are polypoid and clinically aggressive. (WHO, 2000)


name: B-cell lymphoma, unclassifiable, with features intermediate between diffuse large b-cell lymphoma and classical Hodgkin lymphoma

description: A group of lymphomas displaying molecular, morphologic, immunophenotypic, and clinical overlap between classical Hodgkin lymphoma and diffuse large B-cell lymphoma. This term particularly applies to mediastinal lymphomas with overlapping features of mediastinal (thymic) large B-cell lymphoma and classical Hodgkin lymphoma.


name: FGF7_HUMAN Fibroblast growth factor 7 (sprot)

description: A fibroblast growth factor 7 that is encoded in the genome of human.


conduct disorder

description: A disorder diagnosed in childhood or adolescence age group characterized by aggressive behavior, deceitfulness, destruction of property or violation of rules that is persistent and repetitive, and within a one year period.


name: SCN4A_HUMAN Sodium channel protein type 4 subunit alpha (sprot)

description: A sodium channel protein type 4 subunit alpha that is encoded in the genome of human.


name: PCSK5_HUMAN Proprotein convertase subtilisin/kexin type 5 (sprot)

description: A proprotein convertase subtilisin/kexin type 5 that is encoded in the genome of human.


selective IgA deficiency disease

description: A dysgammaglobulinemia characterized by low or undetectable serum levels of immunoglobulin class A (IgA). It is the most common primary antibody deficiency. It may be inherited or the reversible sequela of infection or certain drugs. It may be caused by decreased or inefficient class-switching from progenitor B cells without any corresponding decreases in the other isotypes. Though affected persons may be asymptomatic, low levels of IgA will reduce the immune system's ability to combat infection where IgA is normally secreted, at mucosal surfaces. Selective IgA deficiency is seen in greater proportion among patients with autoimmune disorders.


name: 5HT1B_HUMAN 5-hydroxytryptamine receptor 1B (sprot)

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


cardenolide

A steroid lactone that is a C23 steroid with methyl groups at C-10 and C-13 and a butenolide ring at C-17.


name: FOLH1_HUMAN Glutamate carboxypeptidase 2 (sprot)

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


name: SCAM3_HUMAN Secretory carrier-associated membrane protein 3 (sprot)

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


name: TOP2B_HUMAN DNA topoisomerase 2-beta (sprot)

description: A DNA topoisomerase 2-beta that is encoded in the genome of human.


name: IMP1L_HUMAN Mitochondrial inner membrane protease subunit 1 (sprot)

description: A mitochondrial inner membrane protease subunit 1 that is encoded in the genome of human.


IL25_HUMAN Interleukin-25 (sprot)

An interleukin-25 that is encoded in the genome of human.


plasma cell leukemia

description: An aggressive plasma cell neoplasm characterized by the presence of neoplastic plasma cells in the peripheral blood. It is characterized by the presence of a circulating clonal plasma cell count that exceeds 2x10^9/L or is 20% of the leukocyte differential count.


name: SSR1_HUMAN Somatostatin receptor type 1 (sprot)

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


TRIB1_HUMAN Tribbles homolog 1 (sprot)

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


DINITROPHENYLENE

A dinitrobenzene that is benzene disubstituted at positions 1 and 3 with nitro groups.


chloroxylenol

A member of the class of phenols that is 3,5-xylenol which is substituted at position 4 by chlorine. It is bactericidal against most Gram-positive bacteria but less effective against Staphylococci and Gram-negative bacteria, and often inactive against Pseudomonas species. It is ineffective against bacterial spores.


leniolisib

A pyridopyrimidine that is 5,6,7,8-tetrahydropyrido[4,3-d]pyrimidine substituted by [(3S)-1-propanoylpyrrolidin-3-yl]amino and 6-methoxy-5-(trifluoromethyl)pyridin-3-yl groups at positions 4 and 6, respectively.


agalsidase beta

A tartrate that is the hemitartrate salt of eliglustat. A ceramide glucosyltransferase inhibitor used (as its tartrate salt) for treatment of Gaucher's disease.


localized osteosarcoma

description: A non-disseminated osteosarcoma.


name: RPA12_HUMAN DNA-directed RNA polymerase I subunit RPA12 (sprot)

description: A DNA-directed RNA polymerase I subunit RPA12 that is encoded in the genome of human.


name: TCP4_HUMAN Activated RNA polymerase II transcriptional coactivator p15 (sprot)

description: An activated RNA polymerase II transcriptional coactivator p15 that is encoded in the genome of human.


name: ASC_HUMAN Apoptosis-associated speck-like protein containing a CARD (sprot)

description: An apoptosis-associated speck-like protein containing a CARD that is encoded in the genome of human.


DIGOXIGENIN

A hydroxy steroid that consists of 5beta-cardanolide having a double bond at the 20(22)-position as well as hydroxy groups at the 3beta-, 12beta- and 14beta-positions. It has been isolated from the plant species of the genus Digitalis.


tubulocystic renal cell carcinoma

description: Tubulocystic renal cell carcinoma is an extremely rare subtype of renal cell carcinoma most frequently characterized by a small, solitary, well-circumscribed, unencapsulated renal tumor composed of multiple small to medium-sized cysts with a white or gray, spongy ("bubble wrap-like") cut surface. Patients are usually asymptomatic or could manifest with abdominal pain, abdominal distension and/or hematuria. Progression, recurrence and metastasis rarely occur although lymph node, bone, pleura and liver mestatsis have been reported.


NEXN_HUMAN Nexilin (sprot)

A nexilin that is encoded in the genome of human.


squamous cell carcinoma of penis

description: A squamous cell carcinoma arising from the penis. It occurs chiefly in the squamous epithelium of the glans, coronal sulcus, and foreskin. Etiologic factors include phimosis, lichen sclerosus, smoking, ultraviolet irradiation, history of warts or condylomas, and lack of circumcision. Human papilloma virus is present in a subset of penile squamous cell carcinomas. Patients may present with an exophytic or flat ulcerative mass in the glans or a large primary tumor with inguinal nodal and skin metastases. Morphologic variants include the basaloid carcinoma, warty (condylomatous) carcinoma, verrucous carcinoma, and sarcomatoid (spindle cell) carcinoma. (WHO, 2004)


name: PRS6A_HUMAN 26S proteasome regulatory subunit 6A (sprot)

description: A 26S proteasome regulatory subunit 6A that is encoded in the genome of human.


STX5_HUMAN Syntaxin-5 (sprot)

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


azoospermia

description: A male infertility disease characterized by the absence of any measurable level of sperm in semen.


name: NAB1_HUMAN NGFI-A-binding protein 1 (sprot)

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


Sepsis

description: Systemic inflammatory response to infection.


chromosomal disorder

description: Clinical conditions caused by an abnormal chromosome constitution in which there is extra or missing chromosome material (either a whole chromosome or a chromosome segment). (from Thompson et al., Genetics in Medicine, 5th ed, p429)


name: THIC_HUMAN Acetyl-CoA acetyltransferase, cytosolic (sprot)

description: An acetyl-CoA acetyltransferase, cytosolic that is encoded in the genome of human.


dementia pugilistica

description: Conditions characterized by persistent brain damage or dysfunction as sequelae of cranial trauma. This disorder may result from diffuse axonal injury; intracranial hemorrhages; brain edema; and other conditions. Clinical features may include dementia; focal neurologic deficits; persistent vegetative state; akinetic mutism; or coma.


influenza

description: An acute viral infection of the respiratory tract, occurring in isolated cases, in epidemics, or in pandemics; it is caused by serologically different strains of viruses (influenzaviruses) designated A, B, and C, has a 3-day incubation period, and usually lasts for 3 to 10 days. It is marked by inflammation of the nasal mucosa, pharynx, and conjunctiva; headache; myalgia; often fever, chills, and prostration; and occasionally involvement of the myocardium or central nervous system.


name: PI3R5_HUMAN Phosphoinositide 3-kinase regulatory subunit 5 (sprot)

description: A phosphoinositide 3-kinase regulatory subunit 5 that is encoded in the genome of human.


name: DQA1_HUMAN HLA class II histocompatibility antigen, DQ alpha 1 chain (sprot)

description: An MHC class II histocompatibility antigen alpha chain DQA1 that is encoded in the genome of human.


name: DRB1_HUMAN HLA class II histocompatibility antigen, DRB1 beta chain (sprot)

description: An MHC class II histocompatibility antigen beta chain DRB1 that is encoded in the genome of human.


IFNL3_HUMAN Interferon lambda-3 (sprot)

An interleukin-28B that is encoded in the genome of human.


name: BAP1_HUMAN Ubiquitin carboxyl-terminal hydrolase BAP1 (sprot)

description: A ubiquitin carboxyl-terminal hydrolase BAP1 that is encoded in the genome of human.


name: RAD_HUMAN GTP-binding protein RAD (sprot)

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


megaloblastic anemia

description: Anemia characterized by the presence of unusually large erythroblasts in the bone marrow called megaloblasts. It is usually caused by vitamin B12 or folic acid deficiency. Other causes include toxins and drugs.


name: TREX2_HUMAN Three prime repair exonuclease 2 (sprot)

description: A three prime repair exonuclease 2 that is encoded in the genome of human.


name: TOP3A_HUMAN DNA topoisomerase 3-alpha (sprot)

description: A DNA topoisomerase 3-alpha that is encoded in the genome of human.


name: DAXX_HUMAN Death domain-associated protein 6 (sprot)

description: A death domain-associated protein 6 that is encoded in the genome of human.


anemia due to chronic disorder

description: Anemia due to a disorder that is persistent or long-standing in nature.


name: CUZD1_HUMAN CUB and zona pellucida-like domain-containing protein 1 (sprot)

description: A CUB and zona pellucida-like domain-containing protein 1 that is encoded in the genome of human.


name: PSA3_HUMAN Proteasome subunit alpha type-3 (sprot)

description: A proteasome subunit alpha type-3 that is encoded in the genome of human.


LEPR_HUMAN Leptin receptor (sprot)

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


name: HSP7E_HUMAN Heat shock 70 kDa protein 14 (sprot)

description: A heat shock 70 kDa protein 14 that is encoded in the genome of human.


galactorrhea

description: Excessive or inappropriate lactation in females or males, and not necessarily related to pregnancy. Galactorrhea can occur either unilaterally or bilaterally, and be profuse or sparse. Its most common cause is hyperprolactinemia.


name: DHB3_HUMAN 17-beta-hydroxysteroid dehydrogenase type 3 (sprot)

description: A 17-beta-hydroxysteroid dehydrogenase type 3 that is encoded in the genome of human.


name: CEBPZ_HUMAN CCAAT/enhancer-binding protein zeta (sprot)

description: A CCAAT/enhancer-binding protein zeta that is encoded in the genome of human.


name: EXOC5_HUMAN Exocyst complex component 5 (sprot)

description: An exocyst complex component 5 that is encoded in the genome of human.


name: HXC9_HUMAN Homeobox protein Hox-C9 (sprot)

description: A homeobox protein Hox-C9 that is encoded in the genome of human.


PGM2_HUMAN Phosphopentomutase (sprot)

A phosphopentomutase that is encoded in the genome of human.


name: AP2A1_HUMAN AP-2 complex subunit alpha-1 (sprot)

description: An AP-2 complex subunit alpha-1 that is encoded in the genome of human.


name: CADM3_HUMAN Cell adhesion molecule 3 (sprot)

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


name: hyper-IgE recurrent infection syndrome 1, autosomal dominant

description: A condition of decreased or absent presence or activity of signal transducer and activator of transcription 3 protein. Deficiency of this protein is associated with hyper-IgE syndrome.


TECT2_HUMAN Tectonic-2 (sprot)

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


Loeys-Dietz syndrome

description: Loeys-Dietz syndrome is a rare genetic connective tissue disorder characterized by a broad spectrum of craniofacial, vascular and skeletal manifestations with four genetic subtypes described forming a clinical continuum.


perampanel

A member of the class of bipyridines that is 2,3'-bipyridin-6'-one substituted at positions 1' and 5' by phenyl and 2-cyanophenyl groups respectively. Used as an adjunctive therapy for the treatment of partial-onset seizures in patients with epilepsy.


SELN_HUMAN Selenoprotein N (sprot)

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


name: SPS2_HUMAN Selenide, water dikinase 2 (sprot)

description: A selenide, water dikinase 2 that is encoded in the genome of human.


name: SKA3_HUMAN Spindle and kinetochore-associated protein 3 (sprot)

description: A spindle and kinetochore-associated protein RAMA1 that is encoded in the genome of human.


dry eye syndrome

description: A syndrome characterized by dryness of the cornea and conjunctiva. It is usually caused by a deficiency in tear production. Symptoms include a feeling of burning eyes and a possible foreign body presence in the eye.


name: aromatic L-amino acid decarboxylase deficiency

description: Aromatic L-amino acid decarboxylase deficiency is a very rare, severe, genetic neurometabolic disorder associated with clinical manifestations related to underproduction of serotonin and dopamine, mainly hypotonia, hypokinesia, ptosis oculogyric crises, and signs of autonomic dysfunction.


name: KCNH7_HUMAN Potassium voltage-gated channel subfamily H member 7 (sprot)

description: A voltage-gated potassium channel KCNH7 that is encoded in the genome of human.


MMP11_HUMAN Stromelysin-3 (sprot)

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


name: IL21R_HUMAN Interleukin-21 receptor (sprot)

description: An interleukin-21 receptor that is encoded in the genome of human.


metabolic bone disorder

description: A group of disorders that affect the bones secondary to increased levels of minerals or deficient levels of minerals such as calcium, magnesium, phosphorus, and vitamin D. Representative examples are osteomalacia, osteoporosis, and Paget disease.


name: MIB2_HUMAN E3 ubiquitin-protein ligase MIB2 (sprot)

description: An E3 ubiquitin-protein ligase MIB2 that is encoded in the genome of human.


name: MPPE1_HUMAN Metallophosphoesterase 1 (sprot)

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


name: I22R1_HUMAN Interleukin-22 receptor subunit alpha-1 (sprot)

description: An interleukin-22 receptor subunit alpha-1 that is encoded in the genome of human.


name: GPDA_HUMAN Glycerol-3-phosphate dehydrogenase [NAD(+)], cytoplasmic (sprot)

description: A glycerol-3-phosphate dehydrogenase [NAD(+)], cytoplasmic that is encoded in the genome of human.


name: STT3A_HUMAN Dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit STT3A (sprot)

description: A dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit STT3A that is encoded in the genome of human.


name: MD2L2_HUMAN Mitotic spindle assembly checkpoint protein MAD2B (sprot)

description: A mitotic spindle assembly checkpoint protein MAD2B that is encoded in the genome of human.


perchlorate

A monovalent inorganic anion obtained by deprotonation of perchloric acid.


hemoglobin E-beta-thalassemia syndrome

description: Hemoglobin E - beta-thalassemia (HbE - BT) is a form of beta-thalassemia that results in a mild to severe clinical presentation ranging from a condition indistinguishable from beta-thalassemia major to a mild form of beta-thalassemia intermedia.


intestinal neoplasm

description: A benign or malignant neoplasm involving the small or large intestine.


name: DCAF7_HUMAN DDB1- and CUL4-associated factor 7 (sprot)

description: A DDB1- and CUL4-associated factor 7 that is encoded in the genome of human.


name: self-limited familial infantile epilepsy

description: This syndrome is characterized by the onset of seizures between 3 and 20 months of age (peak 6 months). Seizures may be frequent at onset but usually remit within 1 year from the onset. In untreated cases there can be isolated or brief clusters of seizures within the period from onset to remission. A minority of individuals may have epilepsy in later life. Some patients (with PRRT2 mutations) may develop paroxysmal kinesiogenic dyskinesia in later life.


name: SUSD4_HUMAN Sushi domain-containing protein 4 (sprot)

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


neuroma

description: A tumor that grows from a nerve or is composed of nerve cells and nerve fibers.


name: DDB1_HUMAN DNA damage-binding protein 1 (sprot)

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


palindromic rheumatism

description: A syndrome that involves sudden and rapidly developing attacks of arthritis with a remission period that results in no joint damage or symptoms.


CP4F2_HUMAN Cytochrome P450 4F2 (sprot)

A cytochrome P450 4F2 that is encoded in the genome of human.


name: I27RA_HUMAN Interleukin-27 receptor subunit alpha (sprot)

description: An interleukin-27 receptor subunit alpha that is encoded in the genome of human.


name: BD1L1_HUMAN Biorientation of chromosomes in cell division protein 1-like 1 (sprot)

description: A biorientation of chromosomes in cell division protein 1-like 1 that is encoded in the genome of human.


FBH1_HUMAN F-box DNA helicase 1 (sprot)

An F-box DNA helicase 1 that is encoded in the genome of human.


name: TRI13_HUMAN E3 ubiquitin-protein ligase TRIM13 (sprot)

description: An E3 ubiquitin-protein ligase TRIM13 that is encoded in the genome of human.


ONCM_HUMAN Oncostatin-M (sprot)

An oncostatin-M that is encoded in the genome of human.


name: TNR3_HUMAN Tumor necrosis factor receptor superfamily member 3 (sprot)

description: A tumor necrosis factor receptor superfamily member 3 that is encoded in the genome of human.


name: SAA4_HUMAN Serum amyloid A-4 protein (sprot)

description: A primate-type serum amyloid A-4 protein that is encoded in the genome of human.


name: CKLF4_HUMAN CKLF-like MARVEL transmembrane domain-containing protein 4 (sprot)

description: A CKLF-like MARVEL transmembrane domain-containing protein 4 that is encoded in the genome of human.


phosphatidylcholine (16:0/17:1)

A phosphatidylcholine 33:1 in which the fatty acyl groups at positions 1 and 2 are specified as C16:0 and C17:1 respectively.


name: CPSM_HUMAN Carbamoyl-phosphate synthase [ammonia], mitochondrial (sprot)

description: A carbamoyl-phosphate synthase [ammonia], mitochondrial that is encoded in the genome of human.


METHYL NONYL KETONE

A dialkyl ketone with methyl and nonyl as the two alkyl groups.


streptobacillary rat-bite fever

description: Streptobacillary rat-bite fever (RBF) is a systemic zoonosis caused by the aerobic gram-negative bacterium Streptobacillus moniliformis and is transmitted to humans through the bites and scratches of infected rats.


name: NCBP2_HUMAN Nuclear cap-binding protein subunit 2 (sprot)

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


UBQL4_HUMAN Ubiquilin-4 (sprot)

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


name: HXA2_HUMAN Homeobox protein Hox-A2 (sprot)

description: A homeobox protein Hox-A2 that is encoded in the genome of human.


CLOBETASOL

A 3-oxo-Delta(1),Delta(4)-steroid that is 16beta-methylpregna-1,4-diene-3,20-dione bearing hydroxy groups at the 11beta and 17alpha positions, fluorine at position 9, and a chlorine substituent at position 21. It is used as its 17alpha-propionate ester to treat various skin disorders, including exzema and psoriasis.


lurasidone

An N-arylpiperazine that is (3aR,4S,7R,7aS)-2-{[(1R,2R)-2-(piperazin-1-ylmethyl)cyclohexyl]methyl}hexahydro-1H-4,7-methanoisoindole-1,3(2H)-dione in which position N4 of the piperazine ring is substituted by a 1,2-benzothiazol-3-yl group. Lurasidone is used (generally as the hydrochloride salt) as an atypical antipsychotic for the treatment of schizophrenia.


A CMP-N-acetylneuraminate-poly-alpha-2,8-sialyltransferase that is encoded in the genome of human.


secondary alcohol

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


name: TA2R4_HUMAN Taste receptor type 2 member 4 (sprot)

description: A taste receptor type 2 member 4 that is encoded in the genome of human.


name: fragile X-associated tremor/ataxia syndrome

description: Fragile X-associated tremor/ataxia syndrome (FXTAS) is a rare neurodegenerative disorder characterized by adult-onset progressive intention tremor and gait ataxia.


emtricitabine

An organofluorine compound  that is 5-fluorocytosine substituted at the 1 position by a 2-(hydroxymethyl)-1,3-oxathiolan-5-yl group (2R,5S configuration). It is used in combination therapy for the treatment of HIV-1 infection.


name: KS6A6_HUMAN Ribosomal protein S6 kinase alpha-6 (sprot)

description: A ribosomal protein S6 kinase alpha-6 that is encoded in the genome of human.


name: LRCH1_HUMAN Leucine-rich repeat and calponin homology domain-containing protein 1 (sprot)

description: A leucine-rich repeat and calponin homology domain-containing protein 1 that is encoded in the genome of human.


name: NCOA6_HUMAN Nuclear receptor coactivator 6 (sprot)

description: A nuclear receptor coactivator 6 that is encoded in the genome of human.


name: TPOR_HUMAN Thrombopoietin receptor (sprot)

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


gatifloxacin

A monocarboxylic acid that is 4-oxo-1,4-dihydroquinoline-3-carboxylic acid which is substituted on the nitrogen by a cyclopropyl group and at positions 6, 7, and 8 by fluoro, 3-methylpiperazin-1-yl, and methoxy groups, respectively. Gatifloxacin is an antibiotic of the fourth-generation fluoroquinolone family, that like other members of that family, inhibits the bacterial topoisomerase type-II enzymes.


name: LDB1_HUMAN LIM domain-binding protein 1 (sprot)

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


name: RAB37_HUMAN Ras-related protein Rab-37 (sprot)

description: A Ras-related protein Rab-37 that is encoded in the genome of human.


name: FXL20_HUMAN F-box/LRR-repeat protein 20 (sprot)

description: An F-box/LRR-repeat protein 20 that is encoded in the genome of human.


name: PTN13_HUMAN Tyrosine-protein phosphatase non-receptor type 13 (sprot)

description: A tyrosine-protein phosphatase non-receptor type 13 that is encoded in the genome of human.


name: PCGF1_HUMAN Polycomb group RING finger protein 1 (sprot)

description: A Polycomb group RING finger protein 1 that is encoded in the genome of human.


name: SLFN5_HUMAN Schlafen family member 5 (sprot)

description: A Schlafen family member 5 that is encoded in the genome of human.


RFTN1_HUMAN Raftlin (sprot)

A raftlin that is encoded in the genome of human.


name: CRX_HUMAN Cone-rod homeobox protein (sprot)

description: A cone-rod homeobox protein that is encoded in the genome of human.


name: SMCA1_HUMAN Probable global transcription activator SNF2L1 (sprot)

description: A probable global transcription activator SNF2L1 that is encoded in the genome of human.


name: ZN569_HUMAN Zinc finger protein 569 (sprot)

description: A zinc finger protein 569 that is encoded in the genome of human.


psychologic dyspareunia

description: Painful or difficult coitus.


trichosporonosis

description: Fungal infections caused by trichosporon that may become systemic especially in an immunocompromised host. Clinical manifestations range from superficial cutaneous infections to systemic lesions in multiple organs.


Abnormal cerebral morphology

description: Any structural abnormality of the telencephalon, which is also known as the cerebrum.


name: PR40B_HUMAN Pre-mRNA-processing factor 40 homolog B (sprot)

description: A pre-mRNA-processing factor 40 homolog B that is encoded in the genome of human.


name: ARHGG_HUMAN Rho guanine nucleotide exchange factor 16 (sprot)

description: A Rho guanine nucleotide exchange factor 16 that is encoded in the genome of human.


name: ZNT1_HUMAN Proton-coupled zinc antiporter SLC30A1 (sprot)

description: A proton-coupled zinc antiporter SLC30A1 that is encoded in the genome of human.


Buschke Lowenstein tumor

description: A verrucous carcinoma of the skin or mucosa that occurs in the anogenital region.


name: CEP43_HUMAN Centrosomal protein 43 (sprot)

description: A centrosomal protein 43 that is encoded in the genome of human.


name: TSP50_HUMAN Probable threonine protease PRSS50 (sprot)

description: A testis-specific protease-like protein 50 that is encoded in the genome of human.


DIMETHYLFORMAMIDE

A member of the class of formamides that is formamide in which the amino hydrogens are replaced by methyl groups.


name: ASNS_HUMAN Asparagine synthetase [glutamine-hydrolyzing] (sprot)

description: An asparagine synthetase [glutamine-hydrolyzing] that is encoded in the genome of human.


name: S28A1_HUMAN Sodium/nucleoside cotransporter 1 (sprot)

description: A sodium/nucleoside cotransporter 1 that is encoded in the genome of human.


tazarotene

The ethyl ester of tazarotenic acid. A prodrug for tazarotenic acid, it is used for the treatment of  psoriasis, acne, and sun-damaged skin.


Cerebral venous thrombosis

description: Formation of a blood clot (thrombus) inside a cerebral vein, causing the obstruction of blood flow.


nevirapine

A dipyridodiazepine that is  5,11-dihydro-6H-dipyrido[3,2-b:2',3'-e][1,4]diazepine which is substituted by methyl, oxo, and cyclopropyl groups at positions 4, 6, and 11, respectively. A non-nucleoside reverse transcriptase inhibitor with activity against HIV-1, it is used in combination with other antiretrovirals for the treatment of HIV infection.


pancolitis

description: Ulcerative colitis that involves the entire colon.


fibronectin glomerulopathy

description: A hereditary kidney disease characterized by proteinuria, type IV renal tubular acidosis, microscopic hematuria and hypertension that may lead to end-stage renal failure in the second to sixth decade of life.


name: LIRA5_HUMAN Leukocyte immunoglobulin-like receptor subfamily A member 5 (sprot)

description: A leukocyte immunoglobulin-like receptor subfamily A member 5 that is encoded in the genome of human.


name: CIKS_HUMAN E3 ubiquitin ligase TRAF3IP2 (sprot)

description: An E3 ubiquitin ligase TRAF3IP2 that is encoded in the genome of human.


name: SEPR_HUMAN Prolyl endopeptidase FAP (sprot)

description: A prolyl endopeptidase FAP that is encoded in the genome of human.


name: ECE2_HUMAN Endothelin-converting enzyme 2 (sprot)

description: An endothelin-converting enzyme 2 that is encoded in the genome of human.


name: HBB_HUMAN Hemoglobin subunit beta (sprot)

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


name: LRP6_HUMAN Low-density lipoprotein receptor-related protein 6 (sprot)

description: A low-density lipoprotein receptor-related protein 6 that is encoded in the genome of human.


name: CR1_HUMAN Complement receptor type 1 (sprot)

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


name: RAMP2_HUMAN Receptor activity-modifying protein 2 (sprot)

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


methyl aminolevulinate

The methyl ester of 5-aminolevulinic acid. A prodrug, it is metabolised to protoporphyrin IX, a photosensitizer, and is used in the photodynamic treatment of non-melanoma skin cancer (including basal cell carcinoma). Topical application (often as the hydrochloride salt) results in an accumulation of protoporphyrin IX in the skin lesions to which the cream has been applied. Subsequent illumination with red light results in the generation of toxic singlet oxygen that destroys cell membranes and thereby kills the tumour cells.


name: ABCA2_HUMAN ATP-binding cassette sub-family A member 2 (sprot)

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


name: PIGZ_HUMAN GPI mannosyltransferase 4 (sprot)

description: A GPI mannosyltransferase 4 that is encoded in the genome of human.


name: S26A8_HUMAN Testis anion transporter 1 (sprot)

description: A testis anion transporter 1 that is encoded in the genome of human.


vulvodynia

description: Vulvodynia is a chronic pain syndrome that affects the vulvar area and occurs without an identifiable cause. Symptoms typically include a feeling of burning or irritation. For the diagnosis to be made symptoms must last at least 3 months.


name: HFM1_HUMAN Probable ATP-dependent DNA helicase HFM1 (sprot)

description: A probable ATP-dependent DNA helicase HFM1 that is encoded in the genome of human.


keratopathy

description: Any disorder of the cornea.


adrenal gland hyperfunction

description: Excess production of adrenal cortex hormones.


donepezil hydrochloride

A racemate comprising equimolar amounts of (R)- and (S)- donepezil hydrochloride. Its main therapeutic use is in the treatment of Alzheimer's disease where it is used to increase cortical acetylcholine.


name: PXMP4_HUMAN Peroxisomal membrane protein 4 (sprot)

description: A peroxisomal membrane protein 4 that is encoded in the genome of human.


name: CPN2_HUMAN Carboxypeptidase N subunit 2 (sprot)

description: A carboxypeptidase N subunit 2 that is encoded in the genome of human.


purpura

description: A small blood vessel hemorrhage into the skin and/or mucous membranes. Newer lesions appear reddish in color. Older lesions are usually a darker purple color and eventually become a brownish-yellow color.


name: RL13A_HUMAN Large ribosomal subunit protein uL13 (sprot)

description: A eukaryotic-type large ribosomal subunit protein uL13 that is encoded in the genome of human.


FGL2_HUMAN Fibroleukin (sprot)

A fibroleukin that is encoded in the genome of human.


FUCOSTEROL

A 3beta-sterol consisting of stigmastan-3beta-ol with double bonds at positions 5 and 24(28).


CYTF_HUMAN Cystatin-F (sprot)

A cystatin-F that is encoded in the genome of human.


phosphatidylethanolamine (15:0/20:1)

A phosphatidylethanolamine 35:1 in which the acyl group at C-1 contains 15 carbons and no double bonds while that at C-2 contains 20 carbons and 1 double bond.


desvenlafaxine

A tertiary amino compound that is N,N-dimethylethanamine substituted at position 1 by a 1-hydroxycyclohexyl and 4-hydroxyphenyl group. It is a metabolite of the drug venlafaxine.


prostaglandin

Naturally occurring compounds derived from the parent C20 acid, prostanoic acid.


name: CEBPD_HUMAN CCAAT/enhancer-binding protein delta (sprot)

description: A CCAAT/enhancer-binding protein delta that is encoded in the genome of human.


pizotifen

A benzocycloheptathiophene that is 9,10-dihydro-4H-benzo[4,5]cyclohepta[1,2-b]thiophene 4-ylidene)-1-methylpiperidine which is joined from the 4 position to the 4 position of an N-methylpiperidine moiety by a double bond. It is a sedating antihistamine, with strong serotonin antagonist and weak antimuscarinic activity. It is generally used as the malate salt for the treatment of migraine and the prevention of headache attacks during cluster periods.


apilimod

Apilimod (STA 5326) is a potent IL-12/IL-23 inhibitor, and strongly inhibits IL-12 in IFNg/SAC-stimulated human PBMCs and SAC-treated monkey PBMCs. Apilimod is a potent and highly selective PIKfyve inhibitor.


triple-positive breast carcinoma

description: A breast carcinoma which is positive for expression of estrogen receptor (ER), progesterone receptor (PR), and human epidermal growth factor receptor 2 (HER2).


name: PSME1_HUMAN Proteasome activator complex subunit 1 (sprot)

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


troleandomycin

A semi-synthetic macrolide antibiotic obtained by acetylation of the three free hydroxy groups of oleandomycin. Troleandomycin is only found in individuals that have taken the drug.


urinary bladder disorder

description: A disease involving the urinary bladder.


3-hydroxy capric acid

A medium-chain fatty acid that is decanoic acid substituted at position 3 by a hydroxy group.


name: VAMP4_HUMAN Vesicle-associated membrane protein 4 (sprot)

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


name: COG6_HUMAN Conserved oligomeric Golgi complex subunit 6 (sprot)

description: A conserved oligomeric Golgi complex subunit 6 that is encoded in the genome of human.


methylarsonous acid

A one-carbon compound that is arsonous acid in which the hydrogen attached to arsenic is replaced by a methyl group.


β-pinene

An isomer of pinene with an exocyclic double bond. It is a component of essential oils from many plants.


name: NFM_HUMAN Neurofilament medium polypeptide (sprot)

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


name: NAL11_HUMAN NACHT, LRR and PYD domains-containing protein 11 (sprot)

description: A NACHT, LRR and PYD domains-containing protein 11 that is encoded in the genome of human.


magnesium deficiency

description: A nutritional condition produced by a deficiency of magnesium in the diet, characterized by anorexia, nausea, vomiting, lethargy, and weakness. Symptoms are paresthesias, muscle cramps, irritability, decreased attention span, and mental confusion, possibly requiring months to appear. Deficiency of body magnesium can exist even when serum values are normal. In addition, magnesium deficiency may be organ-selective, since certain tissues become deficient before others. (Harrison's Principles of Internal Medicine, 12th ed, p1936)


name: ERCC3_HUMAN General transcription and DNA repair factor IIH helicase/translocase subunit XPB (sprot)

description: A general transcription and DNA repair factor IIH helicase subunit XPB that is encoded in the genome of human.


name: GNPI1_HUMAN Glucosamine-6-phosphate isomerase 1 (sprot)

description: A glucosamine-6-phosphate isomerase 1 that is encoded in the genome of human.