name: ABCG8_HUMAN ATP-binding cassette sub-family G member 8 (sprot)

description: An ATP-binding cassette sub-family G member 8 that is encoded in the genome of human.


in situ carcinoma

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

description: A malignant epithelial neoplasm which is confined to the epithelial layer without evidence of further tissue invasion.


name: LOXL3_HUMAN Lysyl oxidase homolog 3 (sprot)

description: A lysyl oxidase homolog 3 that is encoded in the genome of human.


name: MARH2_HUMAN E3 ubiquitin-protein ligase MARCHF2 (sprot)

description: An E3 ubiquitin-protein ligase MARCHF2 that is encoded in the genome of human.


dGDP

A purine 2'-deoxyribonucleoside 5'-diphosphate having guanine as the nucleobase.


neuronal ceroid lipofuscinosis

description: A group of inherited progressive degenerative brain diseases characterized clinically by a decline of mental and other capacities, epilepsy, and vision loss through retinal degeneration, and histopathologically by intracellular accumulation of an autofluorescent material, ceroid lipofuscin, in the neuronal cells in the brain and in the retina.


name: TCL1B_HUMAN T-cell leukemia/lymphoma protein 1B (sprot)

description: A T-cell leukemia/lymphoma protein 1B that is encoded in the genome of human.


perfluorodecanoic acid

A fluoroalkanoic acid that is perfluorinated decanoic acid.


hyperthyroxinemia

description: Abnormally elevated thyroxine level in the blood.


Transthyretin cardiac amyloidosis

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

description: A type of cardiac amyloidosis related to deposition of transthyretin (TTR), which is identified by immunohistochemical staining.


hemophagocytic syndrome

description: Hemophagocytic syndrome (HPS) is a rare immune disease and a potentially life-threatening disorder characterized by cytokine storm and overwhelming inflammation causing fever, hepatosplenomegaly, cytopenia, hypertriglyceridemia, hyperferritinemia, and hemophagocytosis in bone marrow, liver, spleen or lymph nodes. It can be either primary due to a genetic defect (primary hemophagocytic lymphohistiocytosis), or secondary to malignancies, to infections, most commonly with viruses such as Epstein-Barr virus or cytomegalovirus, human immunodeficiency virus, or to autoimmune disorders such as systemic lupus erythematosus or adult-onset Still disease (secondary hemophagocytic lymphohistiocytosis).


malignant epithelial tumor of ovary

description: An invasive malignant tumor that originates from the surface epithelium of the ovary. It is composed of malignant epithelial cells and stroma. Representative examples include serous adenocarcinoma, mucinous adenocarcinoma, endometrioid adenocarcinoma, clear cell adenocarcinoma, and malignant Brenner tumor.


name: SH2B3_HUMAN SH2B adapter protein 3 (sprot)

description: An SH2B adapter protein 3 that is encoded in the genome of human.


name: SG3A2_HUMAN Secretoglobin family 3A member 2 (sprot)

description: A secretoglobin family 3A member 2 that is encoded in the genome of human.


alpha 1-antitrypsin deficiency

description: Alpha-1-antitrypsin deficiency is a hereditary disease that develops in adulthood and is characterized by chronic liver disorders (cirrhosis), respiratory disorders (emphysema), and rarely panniculitis.


name: LFA3_HUMAN Lymphocyte function-associated antigen 3 (sprot)

description: A lymphocyte function-associated antigen 3 that is encoded in the genome of human.


name: PIEZ2_HUMAN Piezo-type mechanosensitive ion channel component 2 (sprot)

description: A piezo-type mechanosensitive ion channel component 2 that is encoded in the genome of human.


juvenile polyposis syndrome

description: Juvenile gastrointestinal polyposis (JIP) is a rare condition characterized by the presence of juvenile hamartomatous polyps in the gastrointestinal (GI) tract.


flecainide

A monocarboxylic acid amide obtained by formal condensation of the carboxy group of 2,5-bis(2,2,2-trifluoroethoxy)benzoic acid with the primary amino group of piperidin-2-ylmethylamine. An antiarrhythmic agent used (in the form of its acetate salt) to prevent and treat tachyarrhythmia (abnormal fast rhythm of the heart).


personality disorder

description: A diverse category of psychiatric disorders characterized by behavior that deviates markedly from the expectations of the individual's culture; this pattern of deviation is pervasive and inflexible and is stable over time. The behavioral pattern negatively interferes with relationships and work.


embryonal neoplasm

description: A usually malignant neoplasm composed of primitive (immature) tissues that resemble fetal tissues. Medulloblastoma, Ependymoblastoma, Pineoblastoma, and Wilms tumor are representative embryonal neoplasms. --2003


resorcinol

A  benzenediol that is benzene dihydroxylated at positions 1 and 3.


name: KLRD1_HUMAN Natural killer cells antigen CD94 (sprot)

description: A killer cell lectin-like receptor subfamily D member 1 that is encoded in the genome of human.


name: RPGF4_HUMAN Rap guanine nucleotide exchange factor 4 (sprot)

description: A Rap guanine nucleotide exchange factor 4 that is encoded in the genome of human.


APCD1_HUMAN Protein APCDD1 (sprot)

A protein APCDD1 that is encoded in the genome of human.


phosphatidylethanolamine (18:0/20:5)

A phosphatidylethanolamine 38:5 in which the acyl group at C-1 contains 18 carbons and no double bonds while that at C-2 contains 20 carbons and 5 double bonds.


methfuroxam

A secondary carboxamide resulting from the formal condensation of the carboxylic acid group of 2,4,5-trimethyl-3-furoic acid with the amino group of aniline. An obsolete fungicide formerly used to control Basidiomycetes pathogens on cereal crops.


FBX9_HUMAN F-box only protein 9 (sprot)

An F-box only protein 9 that is encoded in the genome of human.


bone neoplasm

description: A benign, intermediate, or malignant neoplasm involving the bone or articular cartilage.


TIRAPAZAMINE

A member of the class of benzotriazines that is 1,2,4-benzotriazine carrying an amino substituent at position 3 and two oxido substituents at positions 1 and 4.


A pyridopyrimidine that is pyrido[2,3-d]pyrimidine which is substituted at positions 2 and 4 by (3S)-3-methylmorpholin-4-yl groups and at position 5 by a 3-(hydroxymethyl)-4-methoxyphenyl group. It is an mTOR complex 1/2 (mTORC1/2) dual inhibitor [mTOR = mammalian target of rapamycin].


name: MMEL1_HUMAN Membrane metallo-endopeptidase-like 1 (sprot)

description: A membrane metallo-endopeptidase-like 1 that is encoded in the genome of human.


name: MAST1_HUMAN Microtubule-associated serine/threonine-protein kinase 1 (sprot)

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


name: ACHA3_HUMAN Neuronal acetylcholine receptor subunit alpha-3 (sprot)

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


name: MSH2_HUMAN DNA mismatch repair protein Msh2 (sprot)

description: A DNA mismatch repair protein Msh2 that is encoded in the genome of human.


name: SRSF7_HUMAN Serine/arginine-rich splicing factor 7 (sprot)

description: A serine/arginine-rich splicing factor 7 that is encoded in the genome of human.


name: PDE7B_HUMAN 3',5'-cyclic-AMP phosphodiesterase 7B (sprot)

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


acepromazine

A member of the class of  phenothiazines that is 10H-phenothiazine substituted by an acetyl group at position 2 and a 3-(dimethylamino)propyl group at position 10.


ISOQUINOLINE

An ortho-fused heteroarene that is a benzopyridine in which the N atom not directly attached to the benzene ring.


name: ANGL4_HUMAN Angiopoietin-related protein 4 (sprot)

description: An angiopoietin-related protein 4 that is encoded in the genome of human.


pachyonychia congenita

description: Pachyonychia congenita (PC) is a rare genodermatosis predominantly featuring painful palmoplantar keratoderma, thickened nails, cysts and whitish oral mucosa.


Castleman-Kojima disease

description: A clinicopathologic variant of multicentric Castleman's disease characterized by thrombocytopenia, ascites (anasarca), microcytic anemia, myelofibrosis, renal dysfunction, and organomegaly


name: TF2H4_HUMAN General transcription factor IIH subunit 4 (sprot)

description: A general transcription factor IIH subunit 4 that is encoded in the genome of human.


name: PRS8_HUMAN 26S proteasome regulatory subunit 8 (sprot)

description: A 26S proteasome regulatory subunit 8 that is encoded in the genome of human.


name: PTN2_HUMAN Tyrosine-protein phosphatase non-receptor type 2 (sprot)

description: A tyrosine-protein phosphatase non-receptor type 2 that is encoded in the genome of human.


APJ_HUMAN Apelin receptor (sprot)

An apelin receptor that is encoded in the genome of human.


name: NOTC2_HUMAN Neurogenic locus notch homolog protein 2 (sprot)

description: A neurogenic locus notch homolog protein 2 that is encoded in the genome of human.


methyltestosterone

A 17beta-hydroxy steroid that is testosterone bearing a methyl group at the 17alpha position.


oleamide

A fatty amide derived from oleic acid.


name: CXB2_HUMAN Gap junction beta-2 protein (sprot)

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


neurohypophyseal diabetes insipidus

description: Hereditary central diabetes insipidus is a rare genetic subtype of central diabetes insipidus (CDI) characterized by polyuria and polydipsia due to a deficiency in vasopressin (AVP) synthesis.


name: CORIN_HUMAN Atrial natriuretic peptide-converting enzyme (sprot)

description: An atrial natriuretic peptide-converting enzyme that is encoded in the genome of human.


DOK7_HUMAN Protein Dok-7 (sprot)

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


name: PSMD1_HUMAN 26S proteasome non-ATPase regulatory subunit 1 (sprot)

description: A 26S proteasome non-ATPase regulatory subunit 1 that is encoded in the genome of human.


name: EDC4_HUMAN Enhancer of mRNA-decapping protein 4 (sprot)

description: An enhancer of mRNA-decapping protein 4 that is encoded in the genome of human.


name: LST8_HUMAN Target of rapamycin complex subunit LST8 (sprot)

description: A target of rapamycin complex subunit LST8 that is encoded in the genome of human.


phosphatidylcholine (15:0/18:1)

A phosphatidylcholine 33:1 in which the fatty acyl groups at positions 1 and 2 are specified as C15:0 and C18:1 respectively.


Gordon syndrome

description: An extremely rare multiple congenital malformation syndrome characterized by congenital contractures of hand and feet with variable degrees of severity of camptodactyly, clubfoot and, less frequently, cleft palate. Intelligence is normal but in some cases, additional abnormalities, such as short stature, kyphoscoliosis, ptosis, micrognathia, and cryptorchidism may also be present. Gordon syndrome, Marden-Walker syndrome and arthrogryposis with oculomotor limitation and electroretinal anomalies clinically and genetically overlap, and could represent variable expressions of the same condition.


name: SSR5_HUMAN Somatostatin receptor type 5 (sprot)

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


sapitinib

A member of the class of quinazolines that is 4-amino-7-methoxyquinazoline in which the amino group has been substituted by a 3-chloro-2-fluorophenyl group and in which position 6 of the quinoline ring has been substituted by a {1-[2-(methylamino)-2-oxoethyl]piperidin-4-yl}oxy group. Sapitinib is a dual tyrosine kinase inhibitor (TKI) of epithelial growth factor receptors (EGFR) HER2 and HER3.


CREG1_HUMAN Protein CREG1 (sprot)

A protein CREG1 that is encoded in the genome of human.


name: TSYL5_HUMAN Testis-specific Y-encoded-like protein 5 (sprot)

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


name: PICAL_HUMAN Phosphatidylinositol-binding clathrin assembly protein (sprot)

description: A phosphatidylinositol-binding clathrin assembly protein that is encoded in the genome of human.


An L-alpha-amino acid anion that is the dianion obtained by the deprotonation of the both the carboxy groups of L-glutamic acid.


name: SC5AB_HUMAN Sodium/myo-inositol cotransporter 2 (sprot)

description: A sodium/myo-inositol cotransporter 2 that is encoded in the genome of human.


A  monocarboxylic acid amide resulting from the formal condensation of the carboxy group of 6-aminonicotinic acid with ammonia. An inhibitor of the NADP(+)-dependent enzyme, 6-phosphogluconate dehydrogenase, it interferes with glycolysis, resulting in ATP depletion and synergizes with DNA-crosslinking chemotherapy drugs, such as cisplatin, in killing cancer cells.


name: SLAF8_HUMAN SLAM family member 8 (sprot)

description: A SLAM family member 8 that is encoded in the genome of human.


name: 2ABA_HUMAN Serine/threonine-protein phosphatase 2A 55 kDa regulatory subunit B alpha isoform (sprot)

description: A serine/threonine-protein phosphatase 2A 55 kDa regulatory subunit B alpha isoform that is encoded in the genome of human.


name: IL2RB_HUMAN Interleukin-2 receptor subunit beta (sprot)

description: An interleukin-2 receptor subunit beta that is encoded in the genome of human.


name: SATB1_HUMAN DNA-binding protein SATB1 (sprot)

description: A DNA-binding protein SATB1 that is encoded in the genome of human.


name: CTBP1_HUMAN C-terminal-binding protein 1 (sprot)

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


name: QTGAL_HUMAN Queuosine-tRNA galactosyltransferase (sprot)

description: A UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase-like protein 1 that is encoded in the genome of human.


name: MYL11_HUMAN Myosin regulatory light chain 11 (sprot)

description: A myosin regulatory light chain 11 that is encoded in the genome of human.


name: TYK2_HUMAN Non-receptor tyrosine-protein kinase TYK2 (sprot)

description: A non-receptor tyrosine-protein kinase TYK2 that is encoded in the genome of human.


hyalitis

description: Inflammatory intraocular reaction with clouding and cells in vitreous; often accompanies inflammation of ciliary body, iris, choroid, or retina.


name: PPR1A_HUMAN Protein phosphatase 1 regulatory subunit 1A (sprot)

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


name: EP3A_HUMAN Epididymal secretory protein E3-alpha (sprot)

description: An epididymal secretory protein E3-alpha that is encoded in the genome of human.


name: S20A2_HUMAN Sodium-dependent phosphate transporter 2 (sprot)

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


name: KIF24_HUMAN Kinesin-like protein KIF24 (sprot)

description: A kinesin-like protein KIF24 that is encoded in the genome of human.


CCNT1_HUMAN Cyclin-T1 (sprot)

A cyclin-T1 that is encoded in the genome of human.


Friedreich ataxia

description: An inherited condition that affects the nervous system and causes movement problems. People with this condition develop impaired muscle coordination (ataxia) that worsens over time. Other features include the gradual loss of strength and sensation in the arms and legs, muscle stiffness (spasticity), and impaired speech. Many individuals have a form of heart disease called hypertrophic cardiomyopathy. Some develop diabetes, impaired vision, hearing loss, or an abnormal curvature of the spine (scoliosis). Most people with Friedreich ataxia begin to experience the signs and symptoms around puberty.


L-homoarginine

An L-lysine derivative that is the L-enantiomer of homoarginine.


hypertensive heart disease

description: Abnormal enlargement of the heart resulting from long-standing hypertension.


colonic neoplasm

description: A benign or malignant neoplasm that affects the colon. Representative examples of benign neoplasms include lipoma and leiomyoma. Representative examples of malignant neoplasms include carcinoma, lymphoma, and sarcoma. Colonic adenomas always exhibit epithelial dysplasia and are considered premalignant neoplasms.


ONCO_HUMAN Oncomodulin-1 (sprot)

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


chondrocalcinosis

description: An acute episode of pain, swelling, and redness, sometimes associated with fever. It is caused by the deposition of calcium pyrophosphate crystals in the joints.


spastic diplegia

description: A type of cerebral palsy characterized by spasticity and hypertonia of the lower extremities bilaterally, particularly the legs, hips, and pelvis; this is the most common (70%) form of cerebral palsy.


name: PSA7_HUMAN Proteasome subunit alpha type-7 (sprot)

description: A proteasome subunit alpha type-7 that is encoded in the genome of human.


hyperparathyroidism

description: Hyperfunction of the parathyroid glands resulting in the overproduction of parathyroid hormone. It may be primary or secondary; primary hyperparathyroidism is caused by parathyroid adenoma, parathyroid hyperplasia, parathyroid carcinoma, and multiple endocrine neoplasia. It is associated with hypercalcemia and hypophosphatemia. Signs and symptoms include weakness, fatigue, nausea, vomiting, constipation, depression, bone pain, osteoporosis, cystic bone lesions, and kidney stones. Secondary hyperparathyroidism is caused by the chronic stimulation of the parathyroid glands in patients with chronic renal failure, rickets, and malabsorption syndromes.


name: YES_HUMAN Tyrosine-protein kinase Yes (sprot)

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


name: PGCA_HUMAN Aggrecan core protein (sprot)

description: An aggrecan core protein that is encoded in the genome of human.


vismodegib

A benzamide obtained by formal condensation between the carboxy group of 2-chloro-4-(methylsulfonyl)benzoic acid and the anilino group of 4-chloro-3-(pyridin-2-yl)aniline. Used for the treatment metastatic basal cell carcinoma.


name: PIAS2_HUMAN E3 SUMO-protein ligase PIAS2 (sprot)

description: An E3 SUMO-protein ligase PIAS2 that is encoded in the genome of human.


TF_HUMAN Tissue factor (sprot)

A tissue factor that is encoded in the genome of human.


sweet syndrome

description: Sweet's syndrome (the eponym for acute febrile neutrophilic dermatosis) is characterized by a constellation of clinical symptoms, physical features, and pathologic findings which include fever, neutrophilia, tender erythematous skin lesions (papules, nodules, and plaques), and a diffuse infiltrate consisting predominantly of mature neutrophils that are typically located in the upper dermis.


viral myocarditis

description: Myocarditis that is caused by an infection with a viral agent.


name: M4K1_HUMAN Mitogen-activated protein kinase kinase kinase kinase 1 (sprot)

description: A mitogen-activated protein kinase kinase kinase kinase 1 that is encoded in the genome of human.


A member of the class of pyrazoles that is 1H-pyrazole carrying 1,4-benzodioxane-6-yl and 5-ethyl-2,4-dihydroxyphenyl substituents at positions 4 and 5 respectively.


cilazapril

A pyridazinodiazepine resulting from the formal condensation of the carboxy group of cilazaprilat with ethanol. It is a drug used in the treatment of hypertension and heart failure.


MYOME_HUMAN Myomegalin (sprot)

A myomegalin that is encoded in the genome of human.


DAPT

A dipeptide consisting of alanylphenylglycine derivatised as a 3,5-difluorophenylacetamide at the amino terminal and a tert-butyl ester at the carboxy terminal. It is a gamma-secretase inhibitor.


name: GCP60_HUMAN Golgi resident protein GCP60 (sprot)

description: A Golgi resident protein GCP60 that is encoded in the genome of human.


pervasive developmental disorder

description: A category of developmental disorders characterized by impaired communication and socialization skills. The impairments are incongruent with the individual's developmental level or mental age. These disorders can be associated with general medical or genetic conditions.


Progressive hearing impairment

description: A progressive form of hearing impairment.


name: LRRK1_HUMAN Leucine-rich repeat serine/threonine-protein kinase 1 (sprot)

description: A leucine-rich repeat serine/threonine-protein kinase 1 that is encoded in the genome of human.


name: CAR11_HUMAN Caspase recruitment domain-containing protein 11 (sprot)

description: A caspase recruitment domain-containing protein 11 that is encoded in the genome of human.


uterine cancer

description: Primary or metastatic malignant neoplasm involving the uterine corpus and/or the cervix.


name: FOXE3_HUMAN Forkhead box protein E3 (sprot)

description: A forkhead box protein E3 that is encoded in the genome of human.


vinflunine

An organic heteropentacyclic compound and an organic heterotetracyclic compound that is vinorelbine in which the  tetrahydropyridine moiety of the heterotetracyclic part of the molecule has been redced to the corresponding piperidine, and in which the ethyl group attached to this ring has been replaced by a 1,1-difluoroethyl group.


name: K1C15_HUMAN Keratin, type I cytoskeletal 15 (sprot)

description: A keratin, type I cytoskeletal 15 that is encoded in the genome of human.


metastatic prostate carcinoma

description: A carcinoma that arises from the prostate gland and has spread to other anatomic sites.


MYH2_HUMAN Myosin-2 (sprot)

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


name: CD53_HUMAN Leukocyte surface antigen CD53 (sprot)

description: A CD53 molecule that is encoded in the genome of human.


name: MRP1_HUMAN Multidrug resistance-associated protein 1 (sprot)

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


SEM3C_HUMAN Semaphorin-3C (sprot)

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


name: DCP2_HUMAN m7GpppN-mRNA hydrolase (sprot)

description: An m7GpppN-mRNA hydrolase that is encoded in the genome of human.


Burkitt lymphoma

description: Burkitt lymphoma is a rare form of malignant mature B-cell non-Hodgkin lymphoma.


name: FCRL3_HUMAN Fc receptor-like protein 3 (sprot)

description: An Fc receptor-like protein 3 that is encoded in the genome of human.


name: HXC8_HUMAN Homeobox protein Hox-C8 (sprot)

description: A homeobox protein Hox-C8 that is encoded in the genome of human.


MGP_HUMAN Matrix Gla protein (sprot)

A matrix Gla protein that is encoded in the genome of human.


name: IMDH2_HUMAN Inosine-5'-monophosphate dehydrogenase 2 (sprot)

description: An inosine-5'-monophosphate dehydrogenase 2 that is encoded in the genome of human.


NALTREXONE HYDROCHLORIDE

A hydrochloride obtained by reaction of oxycodone with one molar equivalent of hydrochloric acid. it is a mu-opioid receptor antagonist that is used to treat alcohol dependence.


name: CLCN1_HUMAN Chloride channel protein 1 (sprot)

description: A chloride channel protein, skeletal muscle that is encoded in the genome of human.


CP2A6_HUMAN Cytochrome P450 2A6 (sprot)

A cytochrome P450 2A that is a translation product of the CYP2A6 gene in human.


name: NAA25_HUMAN N-alpha-acetyltransferase 25, NatB auxiliary subunit (sprot)

description: An N-alpha-acetyltransferase 25, NatB auxiliary subunit that is encoded in the genome of human.


eosinophilic pneumonia

description: An inflammatory lung disorder characterized by an increased number of eosinophils in the lungs. The majority of cases are idiopathic, without identifiable cause. In a minority of cases, medications, fungal infections, and environmental triggers have been implicated. It manifests as acute or chronic. Acute eosinophilic pneumonia is a severe and rapidly progressing pneumonia that may lead to respiratory failure requiring mechanical ventilation. Chronic eosinophilic pneumonia follows a slower course and manifests as fever, dyspnea, cough, and weight loss.


name: KDM6A_HUMAN Lysine-specific demethylase 6A (sprot)

description: A lysine-specific demethylase 6A that is encoded in the genome of human.


name: MRP6_HUMAN ATP-binding cassette sub-family C member 6 (sprot)

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


name: B4GT1_HUMAN Beta-1,4-galactosyltransferase 1 (sprot)

description: A beta-1,4-galactosyltransferase 1 that is encoded in the genome of human.


fexofenadine

A piperidine-based anti-histamine compound.


name: TRPV5_HUMAN Transient receptor potential cation channel subfamily V member 5 (sprot)

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


CUL5_HUMAN Cullin-5 (sprot)

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


name: RGL1_HUMAN Ral guanine nucleotide dissociation stimulator-like 1 (sprot)

description: A Ral guanine nucleotide dissociation stimulator-like 1 that is encoded in the genome of human.


name: RGL3_HUMAN Ral guanine nucleotide dissociation stimulator-like 3 (sprot)

description: A Ral guanine nucleotide dissociation stimulator-like 3 that is encoded in the genome of human.


phosphocreatine

A phosphoamino acid consisting of creatine having a phospho group attached at the primary nitrogen of the guanidino group.


REL_HUMAN Proto-oncogene c-Rel (sprot)

A proto-oncogene c-Rel that is encoded in the genome of human.


name: T132A_HUMAN Transmembrane protein 132A (sprot)

description: A transmembrane protein 132A that is encoded in the genome of human.


rivastigmine

A carbamate ester obtained by formal condensation of the carboxy group of ethyl(methyl)carbamic acid with the phenolic OH group of 3-[(1S)-1-(dimethylamino)ethyl]phenol. A reversible cholinesterase inhibitor.


name: DLGP1_HUMAN Disks large-associated protein 1 (sprot)

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


name: TPK1_HUMAN Thiamin pyrophosphokinase 1 (sprot)

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


name: EMC7_HUMAN Endoplasmic reticulum membrane protein complex subunit 7 (sprot)

description: An ER membrane protein complex subunit 7 that is encoded in the genome of human.


TENS1_HUMAN Tensin-1 (sprot)

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


CAD15_HUMAN Cadherin-15 (sprot)

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


name: central nervous system infectious disorder

description: An infectious process that affects the brain and/or spinal cord. Representative examples include encephalitis, poliomyelitis, arachnoiditis, and meningitis.


zofenopril

A proline derivative that is 4-(phenylsulfanyl)-L-proline in which the amine proton is replaced by a (2S)-3-(benzoylsulfanyl)-2-methylpropanoyl group. A prodrug for zofenoprilat.


maleic acid

A butenedioic acid in which the double bond has cis- (Z)-configuration.


PYRENE

An ortho- and peri-fused polycyclic arene consisting of four fused benzene rings, resulting in a flat aromatic system.


name: HXA7_HUMAN Homeobox protein Hox-A7 (sprot)

description: A homeobox protein Hox-A7 that is encoded in the genome of human.


name: GATA2_HUMAN Endothelial transcription factor GATA-2 (sprot)

description: An endothelial transcription factor GATA-2 that is encoded in the genome of human.


name: CNOT8_HUMAN CCR4-NOT transcription complex subunit 8 (sprot)

description: A CCR4-NOT transcription complex subunit 8 that is encoded in the genome of human.


systemic sclerosis

description: A chronic disorder, possibly autoimmune, marked by excessive production of collagen which results in hardening and thickening of body tissues. The two types of systemic scleroderma, limited cutaneous and diffuse cutaneous are classified with focus on the extent of affected skin. A relationship exists between the extent of skin area affected and degree of internal organ/system involvement. Systemic scleroderma can manifest itself in pulmonary fibrosis, Raynaud's syndrome, digestive system telangiectasias, renal hypertension and/or pulmonary hypertension.


glycogen storage disease I

description: Glycogenosis due to glucose-6-phosphatase (G6P) deficiency or glycogen storage disease, (GSD), type 1, is a group of inherited metabolic diseases, including types a and b, and characterized by poor tolerance to fasting, growth retardation and hepatomegaly resulting from accumulation of glycogen and fat in the liver.


CAPN5-related vitreoretinopathy

description: An autosomal dominant vitreoretinopathy caused by variants in the CAPN5 gene. Additional features, such as developmental delay and hypotonia, have been reported in some patients.


Hippocampal atrophy

description: Partial or complete wasting (loss) of hippocampus tissue that was once present.


name: KIT_HUMAN Mast/stem cell growth factor receptor Kit (sprot)

description: A mast/stem cell growth factor receptor that is encoded in the genome of human.


BEST1_HUMAN Bestrophin-1 (sprot)

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


name: SENP2_HUMAN Sentrin-specific protease 2 (sprot)

description: A sentrin-specific protease 2 that is encoded in the genome of human.


bromhexine

A substituted aniline that is 2,4-dibromoaniline which is substituted at position 6 by a [cyclohexyl(methyl)amino]methyl group. It is used (as the monohydrochloride salt) as a mucolytic for the treatment of respiratory disorders associated with productive cough (i.e. a cough characterised by the production of sputum).


name: DHX33_HUMAN ATP-dependent RNA helicase DHX33 (sprot)

description: An ATP-dependent RNA helicase DHX33 that is encoded in the genome of human.


name: DHX9_HUMAN ATP-dependent RNA helicase A (sprot)

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


name: FA12_HUMAN Coagulation factor XII (sprot)

description: A coagulation factor XII that is encoded in the genome of human.


name: AGAP1_HUMAN Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 1 (sprot)

description: An Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 1 that is encoded in the genome of human.


TEN1_HUMAN Teneurin-1 (sprot)

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


HCFC1_HUMAN Host cell factor 1 (sprot)

A host cell factor 1 that is encoded in the genome of human.


human papilloma virus infection

description: An infectious process caused by a human papillomavirus. This infection can cause abnormal tissue growth.


name: GALT4_HUMAN Polypeptide N-acetylgalactosaminyltransferase 4 (sprot)

description: A polypeptide N-acetylgalactosaminyltransferase 4 that is encoded in the genome of human.


name: OAS1_HUMAN 2'-5'-oligoadenylate synthase 1 (sprot)

description: A 2'-5'-oligoadenylate synthase 1 that is encoded in the genome of human.


sodium metavanadate

An inorganic sodium salt having metavanadate as the counterion.


name: FGF4_HUMAN Fibroblast growth factor 4 (sprot)

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


name: LPAR3_HUMAN Lysophosphatidic acid receptor 3 (sprot)

description: A lysophosphatidic acid receptor 3 that is encoded in the genome of human.


name: GRK1_HUMAN Rhodopsin kinase GRK1 (sprot)

description: A rhodopsin kinase GRK1 that is encoded in the genome of human.


name: RBX1_HUMAN E3 ubiquitin-protein ligase RBX1 (sprot)

description: An E3 ubiquitin-protein ligase RBX1 that is encoded in the genome of human.


CRBN_HUMAN Protein cereblon (sprot)

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


name: MPRIP_HUMAN Myosin phosphatase Rho-interacting protein (sprot)

description: A myosin phosphatase Rho-interacting protein that is encoded in the genome of human.


name: NDKB_HUMAN Nucleoside diphosphate kinase B (sprot)

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


WNT9A_HUMAN Protein Wnt-9a (sprot)

A protein Wnt-9a that is encoded in the genome of human.


A phosphatidylglycerol in which the 1- and 2-acyl groups are specified as palmitoyl and oleoyl respectively.


name: CCL18_HUMAN C-C motif chemokine 18 (sprot)

description: A C-C motif chemokine 18 that is encoded in the genome of human.


name: SCNAA_HUMAN Sodium channel protein type 10 subunit alpha (sprot)

description: A sodium channel protein type 10 subunit alpha that is encoded in the genome of human.


name: TLX1_HUMAN T-cell leukemia homeobox protein 1 (sprot)

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


BUTAFENACIL

An organofluorine compound that is 1-methyl-6-(trifluoromethyl)pyrimidine-2,4(1H,3H)-dione substituted by a 4-chloro-3-({[2-methyl-1-oxo-1-(prop-2-en-1-yloxy)propan-2-yl]oxy}carbonyl)phenyl group at position 3. It is a herbicide which inhibits the protoporphyrinogen-oxidase enzyme in plant chloroplasts, resulting in rapid knockdown of various broadleaf and grass weeds.


thrombophilia due to thrombin defect

description: The formation of a blood clot (thrombus) in the lumen of a vein.


phosphatidylethanolamine (P-18:0/18:2)

A phosphatidylethanolamine P-36:2 in which the 1-alkenyl group contains 18 carbons and no additional double bonds while the acyl group contains 18 carbons and 2 double bonds.


name: HBD_HUMAN Hemoglobin subunit delta (sprot)

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


name: K1C9_HUMAN Keratin, type I cytoskeletal 9 (sprot)

description: A keratin, type I cytoskeletal 9 that is encoded in the genome of human.


name: PDP1_HUMAN [Pyruvate dehydrogenase [acetyl-transferring]]-phosphatase 1, mitochondrial (sprot)

description: A [pyruvate dehydrogenase [acetyl-transferring]]-phosphatase 1, mitochondrial that is encoded in the genome of human.


NEB1_HUMAN Neurabin-1 (sprot)

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


name: ABHD5_HUMAN 1-acylglycerol-3-phosphate O-acyltransferase ABHD5 (sprot)

description: A 1-acylglycerol-3-phosphate O-acyltransferase ABHD5 that is encoded in the genome of human.


name: PO4F2_HUMAN POU domain, class 4, transcription factor 2 (sprot)

description: A POU domain, class 4, transcription factor 2 that is encoded in the genome of human.


name: SYVN1_HUMAN E3 ubiquitin-protein ligase synoviolin (sprot)

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


name: GOLM1_HUMAN Golgi membrane protein 1 (sprot)

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


name: UBE2K_HUMAN Ubiquitin-conjugating enzyme E2 K (sprot)

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


name: RAD52_HUMAN DNA repair protein RAD52 homolog (sprot)

description: A DNA repair protein RAD52 homolog that is encoded in the genome of human.


aldehydo-N-acetyl-D-glucosamine

The open-chain form of N-acetyl-D-glucosamine.


name: PPBT_HUMAN Alkaline phosphatase, tissue-nonspecific isozyme (sprot)

description: An alkaline phosphatase, tissue-nonspecific isozyme that is encoded in the genome of human.


name: EMAL1_HUMAN Echinoderm microtubule-associated protein-like 1 (sprot)

description: An echinoderm microtubule-associated protein-like 1 that is encoded in the genome of human.


S10AB_HUMAN Protein S100-A11 (sprot)

A protein S100-A11 that is encoded in the genome of human.


CALB1_HUMAN Calbindin (sprot)

A calbindin that is encoded in the genome of human.


guanosine

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


name: FAK1_HUMAN Focal adhesion kinase 1 (sprot)

description: A focal adhesion kinase 1 that is encoded in the genome of human.


name: TRPS1_HUMAN Zinc finger transcription factor Trps1 (sprot)

description: A zinc finger transcription factor Trps1 that is encoded in the genome of human.


DOK1_HUMAN Docking protein 1 (sprot)

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


garenoxacin

A quinolinemonocarboxylic acid that is 1,4-dihydroquinoline-3-carboxylic acid that is substituted by a cyclopropyl group at position 1, an oxo group at position 4, a (1R)-1-methyl-2,3-dihydro-1H-isoindol-5-yl group at position 7, and a difluoromethoxy group at position 8.


name: TRI31_HUMAN E3 ubiquitin-protein ligase TRIM31 (sprot)

description: An E3 ubiquitin-protein ligase TRIM31 that is encoded in the genome of human.


name: TF2H5_HUMAN General transcription factor IIH subunit 5 (sprot)

description: A general transcription factor IIH subunit 5 that is encoded in the genome of human.


name: FOLR3_HUMAN Folate receptor gamma (sprot)

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


name: TTK_HUMAN Dual specificity protein kinase TTK (sprot)

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


name: AMOL1_HUMAN Angiomotin-like protein 1 (sprot)

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


name: STAR_HUMAN Steroidogenic acute regulatory protein, mitochondrial (sprot)

description: A steroidogenic acute regulatory protein, mitochondrial that is encoded in the genome of human.


name: DHE3_HUMAN Glutamate dehydrogenase 1, mitochondrial (sprot)

description: A glutamate dehydrogenase 1, mitochondrial that is encoded in the genome of human.


name: CNOT7_HUMAN CCR4-NOT transcription complex subunit 7 (sprot)

description: A CCR4-NOT transcription complex subunit 7 that is encoded in the genome of human.


name: ASF1B_HUMAN Histone chaperone ASF1B (sprot)

description: A histone chaperone ASF1B that is encoded in the genome of human.


HPSE_HUMAN Heparanase (sprot)

A heparanase that is encoded in the genome of human.


amlexanox

A pyridochromene-derived monocarboxylic acid having an amino substituent at the 2-position, an oxo substituent at the 5-position and an isopropyl substituent at the 7-position.


name: TPM1_HUMAN Tropomyosin alpha-1 chain (sprot)

description: A tropomyosin alpha-1 chain that is encoded in the genome of human.


valganciclovir

The L-valinyl ester of ganciclovir, into which it is rapidly converted by intestinal and hepatic esterases. It is a synthetic analogue of 2'-deoxyguanosine.


name: RGS5_HUMAN Regulator of G-protein signaling 5 (sprot)

description: A regulator of G-protein signaling 5 that is encoded in the genome of human.


SODIUM FERULATE

An organic sodium salt resulting from the replacement of the proton from the 3-hydroxy group of ferulic acid by a sodium ion.


name: HXB13_HUMAN Homeobox protein Hox-B13 (sprot)

description: A homeobox protein Hox-B13 that is encoded in the genome of human.


TTNPB

A  retinoid that consists of benzoic acid substituted at position 4 by a 2-(5,5,8,8-tetramethyl-5,6,7,8-tetrahydronaphthalen-2-yl)prop-1-en-1-yl group. It is a synthetic retinoid that acts as a selective agonist for the retinoic acid receptors (RAR).


name: APOC3_HUMAN Apolipoprotein C-III (sprot)

description: An apolipoprotein C-III that is encoded in the genome of human.


name: TERT_HUMAN Telomerase reverse transcriptase (sprot)

description: A telomerase reverse transcriptase that is encoded in the genome of human.


phosphatidylcholine (18:0/22:4)

A phosphatidylcholine 40:4 in which the fatty acyl groups at positions 1 and 2 are specified as C18:0 and C22:4 respectively.


name: PRDX5_HUMAN Peroxiredoxin-5, mitochondrial (sprot)

description: A peroxiredoxin-5, mitochondrial that is encoded in the genome of human.


name: TIP39_HUMAN Tuberoinfundibular peptide of 39 residues (sprot)

description: A tuberoinfundibular peptide of 39 residues that is encoded in the genome of human.


name: MLC1_HUMAN Membrane protein MLC1 (sprot)

description: A membrane protein MLC1 that is encoded in the genome of human.


polymyositis

description: A rare idiopathic inflammatory myopathy characterized by symmetric proximal muscle weakness and elevated muscle enzymes.


name: SPY4_HUMAN Protein sprouty homolog 4 (sprot)

description: A protein sprouty homolog 4 that is encoded in the genome of human.


name: CLCA2_HUMAN Calcium-activated chloride channel regulator 2 (sprot)

description: A calcium-activated chloride channel regulator 2 that is encoded in the genome of human.


Renal atrophy

description: Atrophy of the kidney.


name: CD2AP_HUMAN CD2-associated protein (sprot)

description: A CD2-associated protein that is encoded in the genome of human.


lithocholic acid

A monohydroxy-5beta-cholanic acid with a alpha-hydroxy substituent at position 3. It is a bile acid obtained from chenodeoxycholic acid by bacterial action.


name: SMR3A_HUMAN Submaxillary gland androgen-regulated protein 3A (sprot)

description: A submaxillary gland androgen-regulated protein 3A that is encoded in the genome of human.


TSC2_HUMAN Tuberin (sprot)

A tuberin that is encoded in the genome of human.


Inflammatory abnormality of the eye

description: Inflammation of the eye, parts of the eye or the periorbital region.


MT1M_HUMAN Metallothionein-1M (sprot)

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


name: PAX3_HUMAN Paired box protein Pax-3 (sprot)

description: A paired box protein Pax-3 that is encoded in the genome of human.


name: MARE2_HUMAN Microtubule-associated protein RP/EB family member 2 (sprot)

description: A microtubule-associated protein RP/EB family member 2 that is encoded in the genome of human.


LEUK_HUMAN Leukosialin (sprot)

A leukosialin that is encoded in the genome of human.


name: SC6A2_HUMAN Sodium-dependent noradrenaline transporter (sprot)

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


enbucrilate

A macromolecule composed of repeating butyl 2-cyanopropanoate units.


cerebellar degeneration

description: Degeneration of the cerebellum. It may be an inherited condition, a paraneoplastic syndrome, or secondary to autoimmune disorders.


NH2L1_HUMAN NHP2-like protein 1 (sprot)

An NHP2-like protein 1 that is encoded in the genome of human.


name: DNJB4_HUMAN DnaJ homolog subfamily B member 4 (sprot)

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


name: SDIM1_HUMAN Stress-responsive DNAJB4-interacting membrane protein 1 (sprot)

description: A stress-responsive DNAJB4-interacting membrane protein 1 that is encoded in the genome of human.


JARD2_HUMAN Protein Jumonji (sprot)

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


refractory celiac disease

description: Refractory celiac disease (RCD) is a complex autoimmune disorder much like the more common celiac disease but, unlike celiac disease, it is resistant or unresponsive to at least 12 months of treatment with a strict gluten-free diet. Gliadin, a component of the wheat storage protein gluten, together with similar proteins in barley and rye, are the villains that trigger the immune reaction in celiac disease. The diagnosis of RCD is made by exclusion, especially of any other disorder that can affect the huge number of thread-like projections that line the interior of the intestine (intestinal villi), such as intestinal lymphoma, Crohn's disease, small intestinal bacterial overgrowth or hypogammaglobulinemia.


kidney angiomyolipoma

description: An angiomyolipoma arising from the kidney.


name: RRP1B_HUMAN Ribosomal RNA processing protein 1 homolog B (sprot)

description: A ribosomal RNA processing protein 1 homolog B that is encoded in the genome of human.


name: TAD2A_HUMAN Transcriptional adapter 2-alpha (sprot)

description: A transcriptional adapter 2-alpha that is encoded in the genome of human.


MFRN2_HUMAN Mitoferrin-2 (sprot)

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


name: POPD3_HUMAN Popeye domain-containing protein 3 (sprot)

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


name: POPD1_HUMAN Blood vessel epicardial substance (sprot)

description: A blood vessel epicardial substance that is encoded in the genome of human.


TDGF1_HUMAN Protein Cripto (sprot)

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


pyrazinamide

A monocarboxylic acid amide resulting from the formal condensation of the carboxy group of pyrazinoic acid (pyrazine-2-carboxylic acid) with ammonia. A prodrug for pyrazinoic acid, pyrazinecarboxamide is used as part of multidrug regimens for the treatment of tuberculosis.


phosphatidylinositol (18:1/18:2)

A phosphatidylinositol 36:3 in which the acyl group at C-1 contains 18 carbons and 1 double bond while that at C-2 contains 18 carbons and 2 double bonds


cholesteatoma

description: A pathologic process characterized by the proliferation of keratinizing squamous epithelium resulting in the accumulation of keratin and cells in the middle ear and/or mastoid. It may be congenital or acquired. If left untreated, it may increase in size and destroy adjacent structures.


name: DXO_HUMAN Decapping and exoribonuclease protein (sprot)

description: A decapping and exoribonuclease protein that is encoded in the genome of human.


name: RBM38_HUMAN RNA-binding protein 38 (sprot)

description: An RNA-binding protein 38 that is encoded in the genome of human.


Impaired T cell function

description: Abnormally reduced ability of T cells to perform their functions in cell-mediated immunity.


name: BCAT1_HUMAN Branched-chain-amino-acid aminotransferase, cytosolic (sprot)

description: A branched-chain-amino-acid aminotransferase, cytosolic that is encoded in the genome of human.


CERS1_HUMAN Ceramide synthase 1 (sprot)

A ceramide synthase 1 that is encoded in the genome of human.


Posterior blepharitis

description: A type of blepharitis that affects the meibomian glands and meibomian gland orifices. This abnormality can be associated with a spectrum of appearances ranging from meibomian seborrhoea (foaming meibomian gland secretions) and meibomianitis (inflamed meibomian glands), to chalazia.


EFNB3_HUMAN Ephrin-B3 (sprot)

An ephrin-B3 that is encoded in the genome of human.


bacitracin A

A mixture of at least nine closely related homodetic cyclic peptides produced by Bacillus subtilis and B. licheniformis, which is particularly active against Gram-positive bacteria.


name: EPHB2_HUMAN Ephrin type-B receptor 2 (sprot)

description: An ephrin type-B receptor 2 that is encoded in the genome of human.


name: EPHB3_HUMAN Ephrin type-B receptor 3 (sprot)

description: An ephrin type-B receptor 3 that is encoded in the genome of human.


name: TLK2_HUMAN Serine/threonine-protein kinase tousled-like 2 (sprot)

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


name: HIPK3_HUMAN Homeodomain-interacting protein kinase 3 (sprot)

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


name: KIF22_HUMAN Kinesin-like protein KIF22 (sprot)

description: A kinesin-like protein KIF22 that is encoded in the genome of human.


name: PLCD1_HUMAN 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase delta-1 (sprot)

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


noise induced hearing loss

description: A condition in which a person loses the ability to hear due to exposure to high intensity sound.


description: Hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency is a hereditary disorder of purine metabolism associated with uric acid overproduction and a continuum spectrum of neurological manifestations depending on the degree of the enzyme deficiency.


name: NDUS4_HUMAN NADH dehydrogenase [ubiquinone] iron-sulfur protein 4, mitochondrial (sprot)

description: An NADH dehydrogenase [ubiquinone] iron-sulfur protein 4, mitochondrial that is encoded in the genome of human.


endocarditis

description: Inflammation of the endocardium.


KLK1_HUMAN Kallikrein-1 (sprot)

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


name: OLIG1_HUMAN Oligodendrocyte transcription factor 1 (sprot)

description: An oligodendrocyte transcription factor 1 that is encoded in the genome of human.


name: LSHR_HUMAN Lutropin-choriogonadotropic hormone receptor (sprot)

description: A lutropin-choriogonadotropic hormone receptor that is encoded in the genome of human.


name: SRSF5_HUMAN Serine/arginine-rich splicing factor 5 (sprot)

description: A serine/arginine-rich splicing factor 5 that is encoded in the genome of human.


name: TFP11_HUMAN Tuftelin-interacting protein 11 (sprot)

description: A tuftelin-interacting protein 11 that is encoded in the genome of human.


UBQL2_HUMAN Ubiquilin-2 (sprot)

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


esophageal candidiasis

description: Esophagitis resulting from Candida.


name: CDK8_HUMAN Cyclin-dependent kinase 8 (sprot)

description: A cyclin-dependent kinase 8 that is encoded in the genome of human.


A nucleoside analogue that is cytidine which carries a hydroxy group at the N(4)-positon. It has broad-spectrum antiviral activity against influenza, SARS-CoV , SARS-CoV-2 and MERS-CoV.


name: ACSM5_HUMAN Acyl-coenzyme A synthetase ACSM5, mitochondrial (sprot)

description: An acyl-coenzyme A synthetase ACSM5, mitochondrial that is encoded in the genome of human.


name: TBA1B_HUMAN Tubulin alpha-1B chain (sprot)

description: A tubulin alpha-1B chain that is encoded in the genome of human.


CLD11_HUMAN Claudin-11 (sprot)

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


name: TPPP_HUMAN Tubulin polymerization-promoting protein (sprot)

description: A tubulin polymerization-promoting protein that is encoded in the genome of human.


famciclovir

2-Amino-9H-purine in which the hydrogen at position 9 is substituted by a 4-acetoxy-3-(acetoxymethyl)but-1-yl group. A prodrug of the antiviral penciclovir, it is used for the treatment of acute herpes zoster (shingles), for the treatment or suppression of recurrent genital herpes in immunocompetent patients and for the treatment of recurrent mucocutaneous herpes simplex infections in HIV infected patients.


chronic primary adrenal insufficiency

description: A chronic disorder of the adrenal cortex resulting in the inadequate production of glucocorticoid and mineralocorticoid hormones.


name: TNAP3_HUMAN Tumor necrosis factor alpha-induced protein 3 (sprot)

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


nortriptyline

An organic tricyclic compound that is 10,11-dihydro-5H-dibenzo[a,d][7]annulene substituted by a 3-(methylamino)propylidene group at position 5. It is an active metabolite of  amitriptyline.


ISAVUCONAZOLE

A 1,3-thiazole that is butan-2-ol which is substituted at positions 1, 2, and 3 by 1,2,4-triazol-1-yl, 2,5-difluorophenyl, and 4-(p-cyanophenyl)-1,3-thiazol-2-yl groups, respectively. It is an antifungal drug used for the treatment of invasive aspergillosis and invasive mucormycosis.


Angelman syndrome

description: A neurogenetic disorder characterized by severe intellectual deficit and distinct facial dysmorphic features.


methohexital

A barbiturate, the structure of which is that of barbituric acid substituted at N-1 by a methyl group and at C-5 by allyl and 1-methylpent-2-ynyl groups.


name: ACOX3_HUMAN Peroxisomal acyl-coenzyme A oxidase 3 (sprot)

description: A peroxisomal acyl-coenzyme A oxidase 3 that is encoded in the genome of human.


name: FPR1_HUMAN fMet-Leu-Phe receptor (sprot)

description: An fMet-Leu-Phe receptor that is encoded in the genome of human.


sphingolipidosis

description: An inherited metabolic disorder that affects the lysosomal degradation of the spinhgolipids. Representative examples include Gaucher disease, Tay-Sachs disease, and Niemann-Pick disease.


N-METHYL-N-NITROSUREA

A member of the class of N-nitrosoureas that is urea in which one of the nitrogens is substituted by methyl and nitroso groups.


GLPA_HUMAN Glycophorin-A (sprot)

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


Hematochezia

description: The passage of fresh (red) blood per anus, usually in or with stools. Most rectal bleeding comes from the colon, rectum, or anus.


name: KCC1A_HUMAN Calcium/calmodulin-dependent protein kinase type 1 (sprot)

description: A calcium/calmodulin-dependent protein kinase type 1 that is encoded in the genome of human.


TRFM_HUMAN Melanotransferrin (sprot)

A melanotransferrin that is encoded in the genome of human.


Airway hyperresponsiveness

description: An increased sensitivity of the airways to an inhaled constrictor agonist, a steeper slope of the dose-response curve, and a greater maximal response to the agonist.


livedoid vasculopathy

description: Livedoid vasculopathy is a blood vessel disorder that causes painful ulcers and scarring (atrophie blanche) on the feet and lower legs. These symptoms can persist for months to years and the ulcers often recur.Livedoid vasculopathy lesions appear as painful red or purple marks and spots that may progress to small, tender, irregular ulcers. Symptoms tend to worsen in the winter and summer months, and affect women more often then men. Livedoid vasculopathy may occur alone or in combination with another condition, such as lupus or thrombophilia.


A neopterin where positions C-7 and C-8 have been hydrogenated.


symptomatic heart failure

description: A heart failure which results in symptoms such as shortness of breath, fatigue, inability to exerciseb& etc


Pancreatic islet-cell hyperplasia

description: Hyperplasia of the islets of Langerhans, i.e., of the regions of the pancreas that contain its endocrine cells.


Recurrent thrombophlebitis

description: Repeated episodes of inflammation of a vein associated with venous thrombosis (blood clot formation within the vein).


name: LOXL1_HUMAN Lysyl oxidase homolog 1 (sprot)

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


name: BHE22_HUMAN Class E basic helix-loop-helix protein 22 (sprot)

description: A class E basic helix-loop-helix protein 22 that is encoded in the genome of human.


AQP7_HUMAN Aquaporin-7 (sprot)

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


PLD2_HUMAN Phospholipase D2 (sprot)

A phospholipase D2 that is encoded in the genome of human.


PLD1_HUMAN Phospholipase D1 (sprot)

A phospholipase D1 that is encoded in the genome of human.


name: NEMO_HUMAN NF-kappa-B essential modulator (sprot)

description: An NF-kappa-B essential modulator that is encoded in the genome of human.


name: TM201_HUMAN Transmembrane protein 201 (sprot)

description: A transmembrane protein 201 that is encoded in the genome of human.


name: BST1_HUMAN ADP-ribosyl cyclase/cyclic ADP-ribose hydrolase 2 (sprot)

description: An ADP-ribosyl cyclase/cyclic ADP-ribose hydrolase 2 that is encoded in the genome of human.


SYNPO_HUMAN Synaptopodin (sprot)

A synaptopodin that is encoded in the genome of human.


name: ETV5_HUMAN ETS translocation variant 5 (sprot)

description: An ETS translocation variant 5 that is encoded in the genome of human.


Oliguria

description: Low output of urine, clinically classified as an output below 300-500ml/day.


LFG2_HUMAN Protein lifeguard 2 (sprot)

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


name: COPRS_HUMAN Coordinator of PRMT5 and differentiation stimulator (sprot)

description: A coordinator of PRMT5 and differentiation stimulator that is encoded in the genome of human.


name: FNDC5_HUMAN Fibronectin type III domain-containing protein 5 (sprot)

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


REM sleep behavior disorder

description: A disorder characterized by episodes of vigorous and often violent motor activity during rem sleep (sleep, rem). The affected individual may inflict self injury or harm others, and is difficult to awaken from this condition. Episodes are usually followed by a vivid recollection of a dream that is consistent with the aggressive behavior. This condition primarily affects adult males. (From Adams et al., Principles of Neurology, 6th ed, p393)


name: CCL25_HUMAN C-C motif chemokine 25 (sprot)

description: A C-C motif chemokine 25 that is encoded in the genome of human.


name: CCR9_HUMAN C-C chemokine receptor type 9 (sprot)

description: A C-C chemokine receptor type 9 that is encoded in the genome of human.


NRP1_HUMAN Neuropilin-1 (sprot)

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


glipizide

An N-sulfonylurea that is glyburide in which the (5-chloro-2-methoxybenzoyl group is replaced by a (5-methylpyrazin-2-yl)carbonyl group. An oral hypoglycemic agent, it is used in the treatment of type 2 diabetes mellitus.


name: FOXN2_HUMAN Forkhead box protein N2 (sprot)

description: A forkhead box protein N2 that is encoded in the genome of human.


NOX3_HUMAN NADPH oxidase 3 (sprot)

An NADPH oxidase 3 that is encoded in the genome of human.


name: ASAP1_HUMAN Arf-GAP with SH3 domain, ANK repeat and PH domain-containing protein 1 (sprot)

description: An Arf-GAP with SH3 domain, ANK repeat and PH domain-containing protein 1 that is encoded in the genome of human.


MTG8_HUMAN Protein CBFA2T1 (sprot)

A protein CBFA2T1 that is encoded in the genome of human.


name: MBNL1_HUMAN Muscleblind-like protein 1 (sprot)

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


ethinylestradiol

A 3-hydroxy steroid that is estradiol substituted by a ethynyl group at position 17. It is a  xenoestrogen synthesized from estradiol and has been shown to exhibit high estrogenic potency on oral administration.


hypertrichosis

description: Excessive hair growth anywhere on the body.


STX2_HUMAN Syntaxin-2 (sprot)

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


name: CISD2_HUMAN CDGSH iron-sulfur domain-containing protein 2 (sprot)

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


citrullinemia type II

description: Citrullinemia type II is a severe subtype of citrin deficiency characterized clinically by adult onset (20 and 50 years of age), recurrent episodes of hyperammonemia and associated neuropsychiatric symptoms such as nocturnal delirium, confusion, restlessness, disorientation, drowsiness, memory loss, abnormal behavior (aggression, irritability, and hyperactivity), seizures, and coma.


name: SCN1B_HUMAN Sodium channel subunit beta-1 (sprot)

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


name: KCNA4_HUMAN Potassium voltage-gated channel subfamily A member 4 (sprot)

description: A voltage-gated potassium channel alpha subunit KCNA4 that is encoded in the genome of human.


name: SIA4B_HUMAN CMP-N-acetylneuraminate-beta-galactosamide-alpha-2,3-sialyltransferase 2 (sprot)

description: A CMP-N-acetylneuraminate-beta-galactosamide-alpha-2,3-sialyltransferase 2 that is encoded in the genome of human.


Hypotonia

description: Hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle). Even when relaxed, muscles have a continuous and passive partial contraction which provides some resistance to passive stretching. Hypotonia thus manifests as diminished resistance to passive stretching. Hypotonia is not the same as muscle weakness, although the two conditions can co-exist.


name: PATL1_HUMAN Protein PAT1 homolog 1 (sprot)

description: A protein PAT1 homolog 1 that is encoded in the genome of human.


p-CRESOL

A cresol that consists of toluene substituted by a hydroxy group at position 4. It is a metabolite of aromatic amino acid metabolism produced by intestinal microflora in humans and animals.


name: GDF5_HUMAN Growth/differentiation factor 5 (sprot)

description: A growth/differentiation factor 5 that is encoded in the genome of human.


retinal vein occlusion

description: An occlusion of the retinal vein.


diosmin

A disaccharide derivative that consists of  diosmetin substituted by a 6-O-(alpha-L-rhamnopyranosyl)-beta-D-glucopyranosyl moiety at position 7 via a glycosidic linkage.


primary brain neoplasm

description: A neoplasm arising from the brain.


name: NOC3L_HUMAN Nucleolar complex protein 3 homolog (sprot)

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


name: AGRF1_HUMAN Adhesion G-protein coupled receptor F1 (sprot)

description: An adhesion G-protein coupled receptor F1 that is encoded in the genome of human.


phosphatidylethanolamine (16:0/14:1)

1,2-diacyl-sn-glycero-3-phosphoethanolamine in which the acyl group at C-1 contains 16 carbons and no double bonds while that at C-2 contains 14 carbons and 1 double bond.


name: PARPT_HUMAN Protein mono-ADP-ribosyltransferase TIPARP (sprot)

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


name: EXOS9_HUMAN Exosome complex component RRP45 (sprot)

description: An exosome complex component RRP45 that is encoded in the genome of human.


lauric acid

A straight-chain, twelve-carbon medium-chain saturated fatty acid with strong bactericidal properties; the main fatty acid in coconut oil and palm kernel oil.


name: BKRB2_HUMAN B2 bradykinin receptor (sprot)

description: A B2 bradykinin receptor that is encoded in the genome of human.


name: PHF2_HUMAN Lysine-specific demethylase PHF2 (sprot)

description: A lysine-specific demethylase PHF2 that is encoded in the genome of human.


taurolithocholic acid-3-sulphate

The bile acid taurine conjugate of lithocholic acid.


name: TGO1_HUMAN Transport and Golgi organization protein 1 homolog (sprot)

description: A transport and Golgi organization protein 1 homolog that is encoded in the genome of human.


name: RL30_HUMAN Large ribosomal subunit protein eL30 (sprot)

description: A large ribosomal subunit protein eL30 that is encoded in the genome of human.


ZYX_HUMAN Zyxin (sprot)

A zyxin that is encoded in the genome of human.


name: MRP4_HUMAN ATP-binding cassette sub-family C member 4 (sprot)

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


name: ARAP2_HUMAN Arf-GAP with Rho-GAP domain, ANK repeat and PH domain-containing protein 2 (sprot)

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


primary central nervous system lymphoma

description: A non-Hodgkin or Hodgkin lymphoma that arises in the brain or spinal cord as a primary lesion. There is no evidence of lymphoma outside the central nervous system at the time of diagnosis.


H13_HUMAN Histone H1.3 (sprot)

A histone H1.3 that is encoded in the genome of human.


LRAT2_HUMAN Protein LRATD2 (sprot)

A protein LRATD2 that is encoded in the genome of human.


PARABEN

A monohydroxybenzoic acid that is benzoic acid carrying a hydroxy substituent at C-4 of the benzene ring.


bone giant cell tumor

description: A benign but locally aggressive tumor that arises from the bone and is composed of mononuclear cells admixed with macrophages and osteoclast-like giant cells. It usually arises from the ends of long bones or the vertebrae. Clinical presentation includes pain, edema, and decreased range of motion in the affected joint.


β-phenylethylamine

A phenylethylamine having the phenyl substituent at the 2-position.


name: ADRB1_HUMAN Beta-1 adrenergic receptor (sprot)

description: A beta-1 adrenergic receptor that is encoded in the genome of human.


Pancreatic hyperplasia

description: Hyperplasia of the pancreas.


tributyrin

A triglyceride obtained by formal acylation of the three hydroxy groups of glycerol by butyric acid.


eliglustat

A carboxamide obtained by formal condensation of the carboxy group of octanoic acid with the primary amino group of (1R,2R)-2-amino-1-(2,3-dihydro-1,4-benzodioxin-6-yl)-3-(pyrrolidin-1-yl)propan-1-ol. A ceramide glucosyltransferase inhibitor used (as its tartrate salt) for treatment of Gaucher's disease.


name: ADCY9_HUMAN Adenylate cyclase type 9 (sprot)

description: An adenylate cyclase type 9 that is encoded in the genome of human.


name: CLCN3_HUMAN H(+)/Cl(-) exchange transporter 3 (sprot)

description: An H(+)/Cl(-) exchange transporter 3 that is encoded in the genome of human.


Lynch syndrome

description: An autosomal dominant hereditary neoplastic syndrome characterized by the development of colorectal carcinoma and a high risk of developing endometrial carcinoma, gastric carcinoma, ovarian carcinoma, renal pelvis carcinoma, and small intestinal carcinoma. Patients often develop colorectal carcinomas at an early age (mean, 45 years). In the majority of the cases the lesions arise from the proximal colon. At the molecular level, high-frequency microsatellite instability is present.


name: S15A1_HUMAN Solute carrier family 15 member 1 (sprot)

description: A solute carrier family 15 member 1 that is encoded in the genome of human.


name: MESH1_HUMAN Guanosine-3',5'-bis(diphosphate) 3'-pyrophosphohydrolase MESH1 (sprot)

description: A guanosine-3',5'-bis(diphosphate) 3'-pyrophosphohydrolase MESH1 that is encoded in the genome of human.


Right ventricular failure

description: Reduced ability of the right ventricle to perform its function (to receive blood from the right atrium and to eject blood into the pulmonary artery), often leading to pitting peripheral edema, ascites, and hepatomegaly.


name: TBL1X_HUMAN F-box-like/WD repeat-containing protein TBL1X (sprot)

description: An F-box-like/WD repeat-containing protein TBL1X that is encoded in the genome of human.


Cryoglobulinemic vasculitis

description: Mixed cryoglobulinemia (MC) is a rare multisystem disease characterized by the presence of circulating cryoprecipitable immune complexes in the serum, manifested clinically by a classical triad of purpura, weakness and arthralgia.


name: ASPC1_HUMAN Tether containing UBX domain for GLUT4 (sprot)

description: A tether containing UBX domain for GLUT4 that is encoded in the genome of human.


name: T22D1_HUMAN TSC22 domain family protein 1 (sprot)

description: A TSC22 domain family protein 1 that is encoded in the genome of human.


childhood neoplasm

description: A benign or malignant neoplasm arising during childhood.


MEFV_HUMAN Pyrin (sprot)

A pyrin that is encoded in the genome of human.


NINJ1_HUMAN Ninjurin-1 (sprot)

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


name: 9-(4-methoxy-2,3,6-trimethylphenyl)-3,7-dimethylnona-2,4,6,8-tetraenoic acid ethyl ester


generalized pustular psoriasis

description: A rare and extreme form of psoriasis characterized by the appearance of sterile pustules which can take many patterns. All the main pathological features of the disease are accentuated. Generalized pustular psoriasis is clinically heterogeneous in its age at onset, precipitants, severity, and natural history. Many overlapping clinical entities are recognized. There is a relationship between these entities and plaque psoriasis, as some individuals may have episodes of plaque psoriasis preceding or following the generalized pustular psoriasis, but in others generalized pustular psoriasis occurs as the sole phenotype without plaque psoriasis at any time.


cleft palate

description: Cleft palate is a fissure type embryopathy that affects the soft and hard palate to varying degrees.


ichthyosis prematurity syndrome

description: Ichthyosis prematurity syndrome is a rare, syndromic congenital ichthyosis characterized by premature birth (at gestational weeks 30-32, in general) in addition to thick, caseous and desquamating epidermis, neonatal respiratory asphyxia, and persistent eosinophilia. After the perinatal period, a spontaneous improvement in the health of affected patients is observed and skin features (vernix caseosa-like scale) evolve into a mild presentation of flat follicular hyperkeratosis with atopy.


cortical cataract

description: A cataract (disease) that involves the lens cortex.


CHARGE syndrome

description: CHARGE syndrome is a multiple congenital anomaly syndrome characterized by the variable combination of multiple anomalies, mainly Coloboma; Choanal atresia/stenosis; Cranial nerve dysfunction; Characteristic ear anomalies (known as the major 4 C's).


name: ACHA7_HUMAN Neuronal acetylcholine receptor subunit alpha-7 (sprot)

description: A neuronal acetylcholine receptor subunit alpha-7 that is encoded in the genome of human.


name: S39A8_HUMAN Metal cation symporter ZIP8 (sprot)

description: A metal cation symporter ZIP8 that is encoded in the genome of human.


aortic valve disorder

description: A disease involving the aortic valve.


name: PAPD1_HUMAN Poly(A) RNA polymerase, mitochondrial (sprot)

description: A poly(A) RNA polymerase, mitochondrial that is encoded in the genome of human.


BENZOFURAN

A benzofuran consisting of fused benzene and furan rings. It is the parent compound of the class of 1-benzofurans.


phenylacetic acid

A monocarboxylic acid that is toluene in which one of the hydrogens of the methyl group has been replaced by a carboxy group.


name: PCDA4_HUMAN Protocadherin alpha-4 (sprot)

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


diazoxide

A benzothiadiazine that is the S,S-dioxide of 2H-1,2,4-benzothiadiazine which is substituted at position 3 by a methyl group and at position 7 by chlorine. A peripheral vasodilator, it increases the concentration of glucose in the plasma and inhibits the secretion of insulin by the beta- cells of the pancreas. It is used orally in the management of intractable hypoglycaemia and intravenously in the management of hypertensive emergencies.


infertility disorder

description: Inability to conceive for at least one year after trying and having unprotected sex. Causes of female infertility include endometriosis, fallopian tubes obstruction, and polycystic ovary syndrome. Causes of male infertility include abnormal sperm production or function, blockage of the epididymis, blockage of the ejaculatory ducts, hypospadias, exposure to pesticides, and health related issues.


praliciguat

A member of the class of pyrazoles that is 5-fluoro-2-(1H-pyrazol-3-yl)pyrimidine which is substituted by a 2-fluorobenzyl group at position 1, 1,2-oxazol-3-yl group at position 5, and by a [3,3,3-trifluoro-2-hydroxy-2-(trifluoromethyl)propyl]nitrilo group at position 4. It is a soluble guanylate cyclase stimulator under clinical development for the treatment of heart failure with preserved ejection fraction.


name: PRR7_HUMAN Proline-rich protein 7 (sprot)

description: A proline-rich protein 7 that is encoded in the genome of human.


name: bacterial infectious disease with sepsis

description: An infectious disease caused by bacteria causing sepsis.


name: MST1L_HUMAN Putative macrophage stimulating 1-like protein (sprot)

description: A protein that is a translation product of the MST1L gene in human.


name: HTRA1_HUMAN Serine protease HTRA1 (sprot)

description: A serine protease HTRA1 that is encoded in the genome of human.


name: IFM1_HUMAN Interferon-induced transmembrane protein 1 (sprot)

description: An interferon-induced transmembrane protein that is a translation product of the IFITM1 gene in human.


WNT5B_HUMAN Protein Wnt-5b (sprot)

A protein Wnt-5b that is encoded in the genome of human.


KLK14_HUMAN Kallikrein-14 (sprot)

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


FASUDIL HYDROCHLORIDE

A hydrochloride obtained by reaction of fasudil with one equivalent of hydrochloric acid.


name: CCL19_HUMAN C-C motif chemokine 19 (sprot)

description: A C-C motif chemokine 19 that is encoded in the genome of human.


name: FHL3_HUMAN Four and a half LIM domains protein 3 (sprot)

description: A four and a half LIM domains protein 3 that is encoded in the genome of human.


ovarian dysfunction

description: The inability of the ovaries to function.


name: TRMO_HUMAN tRNA (adenine(37)-N6)-methyltransferase (sprot)

description: A tRNA (adenine(37)-N6)-methyltransferase that is encoded in the genome of human.


name: NP1L2_HUMAN Nucleosome assembly protein 1-like 2 (sprot)

description: A nucleosome assembly protein 1-like 2 that is encoded in the genome of human.


name: ORAI1_HUMAN Calcium release-activated calcium channel protein 1 (sprot)

description: A calcium release-activated calcium channel protein 1 that is encoded in the genome of human.


name: DHE4_HUMAN Glutamate dehydrogenase 2, mitochondrial (sprot)

description: A glutamate dehydrogenase 2, mitochondrial that is encoded in the genome of human.


secondary neoplasm

description: A neoplasm that arises from a pre-existing lower grade lesion, or as a result of a primary lesion that has spread to secondary sites, or due to a complication of a cancer treatment.


name: BMP8B_HUMAN Bone morphogenetic protein 8B (sprot)

description: A bone morphogenetic protein 8B that is encoded in the genome of human.


name: DI3L2_HUMAN DIS3-like exonuclease 2 (sprot)

description: A DIS3-like exonuclease 2 that is encoded in the genome of human.


name: ATF7_HUMAN Cyclic AMP-dependent transcription factor ATF-7 (sprot)

description: A cyclic AMP-dependent transcription factor ATF-7 that is encoded in the genome of human.


OSCP1_HUMAN Protein OSCP1 (sprot)

A protein OSCP1 that is encoded in the genome of human.


name: ISLR2_HUMAN Immunoglobulin superfamily containing leucine-rich repeat protein 2 (sprot)

description: An immunoglobulin superfamily containing leucine-rich repeat protein 2 that is encoded in the genome of human.


A16L2_HUMAN Protein Atg16l2 (sprot)

A protein Atg16l2 that is encoded in the genome of human.


Ewing sarcoma

description: A small round cell tumor that lacks morphologic, immunohistochemical, and electron microscopic evidence of neuroectodermal differentiation. It represents one of the two ends of the spectrum called Ewing sarcoma/peripheral neuroectodermal tumor. It affects mostly males under age 20, and it can occur in soft tissue or bone. Pain and the presence of a mass are the most common clinical symptoms.


3-PHOSPHOGLYCERIC ACID

The D-enantiomer of 3-phosphoglyceric acid


name: PDCD5_HUMAN Programmed cell death protein 5 (sprot)

description: A programmed cell death protein 5 that is encoded in the genome of human.


name: SIAH1_HUMAN E3 ubiquitin-protein ligase SIAH1 (sprot)

description: An E3 ubiquitin-protein ligase SIAH1 that is encoded in the genome of human.


Zollinger-Ellison syndrome

description: Zollinger-Ellison syndrome (ZES) is characterized by severe peptic disease (ulcers/esophageal disease) caused by hypergastrinemia secondary to a gastrinoma resulting in increased gastric acid secretion.


name: SUPT3_HUMAN Transcription initiation protein SPT3 homolog (sprot)

description: A transcription initiation protein SPT3 that is encoded in the genome of human.


NOCT_HUMAN Nocturnin (sprot)

A nocturnin that is encoded in the genome of human.


kidney hypertrophy

description: Global enlargement of the renal parenchyma in one or both kidneys.


boronic acid

The simplest boronic acid, consisting of borane with two of the hydrogens substituted by hydroxy groups.


sorbic acid

A hexadienoic acid with double bonds at C-2 and C-4; it has four geometrical isomers, of which the trans,trans-form is naturally occurring.


name: BMP15_HUMAN Bone morphogenetic protein 15 (sprot)

description: A bone morphogenetic protein 15 that is encoded in the genome of human.


acute hemorrhagic leukoencephalitis

description: Acute hemorrhagic leukoencephalitis(AHL) is a veryrareform of acute disseminated encephalomyelitis that usuallyresults indeath. It is characterized by a brief but intense attack of inflammation in the brain and spinal cord that damages the myelin -- the protective covering of the nerve fibers. It may also cause bleeding in the brain, leading to damage of the white matter. Symptoms usually come on quickly, beginning with symptoms such as fever, neck stiffness, fatigue, headache, nausea vomiting,seizures, and coma.AHL has a very poor prognosis, with rapid deterioration and death usually occurring within days to one week after onset of symptoms because of severe inflammation in the brain. Although the exact cause is unclear,AHL usually followsaviral infection, or less often, vaccination for measles, mumps, or rubella. Some researchers think that an infection or vaccination can initiate an autoimmune process in the body thus leading to AHL.


name: PVRIG_HUMAN Transmembrane protein PVRIG (sprot)

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


name: ATG12_HUMAN Ubiquitin-like protein ATG12 (sprot)

description: A ubiquitin-like protein ATG12 that is encoded in the genome of human.


indapamide

A sulfonamide formed by condensation of the carboxylic group of 4-chloro-3-sulfamoylbenzoic acid with the amino group of 2-methyl-2,3-dihydro-1H-indol-1-amine.


Tubulointerstitial fibrosis

description: A progressive detrimental connective tissue deposition (fibrosis) on the kidney parenchyma involving the tubules and interstitial tissue of the kidney. Tubulointerstitial injury in the kidney is complex, involving a number of independent and overlapping cellular and molecular pathways, with renal interstitial fibrosis and tubular atrophy (IF/TA) as the final common pathway. However, IF and TA are separable, as shown by the profound TA in renal artery stenosis, which characteristically has little or no fibrosis (or inflammation). For new annotations it is preferable to annotate to the specific HPO terms for Renal interstitial fibrosis and/or Renal tubular atrophy.


CYANAMIDE

A nitrile that is hydrogen cyanide in which the hydrogen has been replaced by an amino group.


lateral sinus thrombosis

description: Formation or presence of a blood clot (thrombus) in the lateral sinuses. This condition is often associated with ear infections (otitis media or mastoiditis) without antibiotic treatment. In developed nations, lateral sinus thrombosis can result from craniocerebral trauma; brain neoplasms; neurosurgical procedures; thrombophilia; and other conditions. Clinical features include headache; vertigo; and increased intracranial pressure.


name: ZHX2_HUMAN Zinc fingers and homeoboxes protein 2 (sprot)

description: A zinc fingers and homeoboxes protein 2 that is encoded in the genome of human.


name: SYLC_HUMAN Leucine--tRNA ligase, cytoplasmic (sprot)

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


marginal zone lymphoma

description: A usually indolent mature B-cell lymphoma, arising from the marginal zone of lymphoid tissues. It is characterized by the presence of small to medium sized atypical lymphocytes. It comprises three entities, according to the anatomic sites involved: extranodal marginal zone B-cell lymphoma of mucosa-associated lymphoid tissue, which affects extranodal sites (most often stomach, lung, skin, and ocular adnexa); nodal marginal zone B-cell lymphoma, which affects lymph nodes without evidence of extranodal disease; and splenic marginal zone B-cell lymphoma, which affects the spleen and splenic hilar lymph nodes, bone marrow, and often the peripheral blood.


sulodexide

A methyladenosine compound in which two methyl groups are attached to N(6) of the adenine nucleobase and O(2) of the sugar.


name: ICAM3_HUMAN Intercellular adhesion molecule 3 (sprot)

description: An intercellular adhesion molecule 3 that is encoded in the genome of human.


MT1F_HUMAN Metallothionein-1F (sprot)

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


name: MFF_HUMAN Mitochondrial fission factor (sprot)

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


name: HYAS2_HUMAN Hyaluronan synthase 2 (sprot)

description: A hyaluronan synthase 2 that is encoded in the genome of human.


SODIUM AZIDE

The sodium salt of hydrogen azide (hydrazoic acid).


SRGN_HUMAN Serglycin (sprot)

A serglycin that is encoded in the genome of human.


name: AG10B_HUMAN Dol-P-Glc:Glc(2)Man(9)GlcNAc(2)-PP-Dol alpha-1,2-glucosyltransferase (sprot)

description: A putative Dol-P-Glc:Glc(2)Man(9)GlcNAc(2)-PP-Dol alpha-1,2-glucosyltransferase that is encoded in the genome of human.


name: HXA1_HUMAN Homeobox protein Hox-A1 (sprot)

description: A homeobox protein Hox-A1 that is encoded in the genome of human.


saroglitazar

A monocarboxylic acid that is (2S)-2-ethoxy-3-(p-ethoxyphenyl)propanoic acid in which one of the methyl hydrogens of the p-ethoxy substituent has been replaced by the nitrogen of 2-methyl-5-[4-(methylthio)phenyl]-1H-pyrrole. An agonist at the subtypes alpha and gamma of the peroxisome proliferator-activated receptor (PPAR) with predominant PPARalpha activity, it is used in the treatment of type 2 diabetes.


name: NANP8_HUMAN Homeobox protein NANOGP8 (sprot)

description: A homeobox protein NANOGP8 that is encoded in the genome of human.


TENS4_HUMAN Tensin-4 (sprot)

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


name: K1C25_HUMAN Keratin, type I cytoskeletal 25 (sprot)

description: A keratin, type I cytoskeletal 25 that is encoded in the genome of human.


name: E2F6_HUMAN Transcription factor E2F6 (sprot)

description: A transcription factor E2F6 that is encoded in the genome of human.


name: PCGF6_HUMAN Polycomb group RING finger protein 6 (sprot)

description: A Polycomb group RING finger protein 6 that is encoded in the genome of human.


MCLN1_HUMAN Mucolipin-1 (sprot)

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


name: MY18A_HUMAN Unconventional myosin-XVIIIa (sprot)

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


name: SUCR1_HUMAN Succinate receptor 1 (sprot)

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


cellulitis

description: Inflammation of the dermis and subcutaneous tissues caused by a bacterial infection. Symptoms include erythema, edema, and pain to the affected area.


familial Alzheimer disease

description: A degenerative disease of the brain that causes gradual loss of memory, judgment, and the ability to function socially. About 25% of all Alzheimer disease is familial (more than 2 people in a family have AD). When Alzheimer disease begins before 60 or 65 years of age (early-onset AD) about 60% of the cases are familial (also known as Early-onset familial AD). These cases appear to be inherited in an autosomal dominant manner.


name: SPF27_HUMAN Pre-mRNA-splicing factor SPF27 (sprot)

description: A pre-mRNA-splicing factor SPF27 that is encoded in the genome of human.


CCL11_HUMAN Eotaxin (sprot)

An eotaxin that is encoded in the genome of human.


medullary thyroid gland carcinoma

description: A neuroendocrine carcinoma arising from the C-cells of the thyroid gland. It is closely associated with multiple endocrine neoplasia syndromes. Approximately 10% to 20% of medullary thyroid carcinomas are familial. Patients usually present with a thyroid nodule that is painless and firm. In the majority of cases nodal involvement is present at diagnosis. Surgery is the preferred treatment for both primary lesions and recurrences. This carcinoma is generally not very sensitive to radiation and almost unresponsive to chemotherapy.


name: S6A12_HUMAN Sodium- and chloride-dependent betaine transporter (sprot)

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


name: YKT6_HUMAN Synaptobrevin homolog YKT6 (sprot)

description: A synaptobrevin homolog YKT6 that is encoded in the genome of human.


name: KAT6B_HUMAN Histone acetyltransferase KAT6B (sprot)

description: A histone acetyltransferase KAT6B that is encoded in the genome of human.


name: TPC2_HUMAN Two pore channel protein 2 (sprot)

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


name: MTF1_HUMAN Metal regulatory transcription factor 1 (sprot)

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


florfenicol

A carboxamide that is the N-dichloroacetyl derivative of (1R,2S)-2-amino-3-fluoro-1-[4-(methanesulfonyl)phenyl]propan-1-ol. A synthetic veterinary antibiotic that is used for treatment of bovine respiratory disease and foot rot; also used in aquaculture.


name: ABCF1_HUMAN ATP-binding cassette sub-family F member 1 (sprot)

description: An ATP-binding cassette sub-family F member 1 that is encoded in the genome of human.


procainamide

A benzamide that is 4-aminobenzamide substituted on the amide N by a 2-(diethylamino)ethyl group.  It is a pharmaceutical antiarrhythmic agent used for the medical treatment of cardiac arrhythmias.


EFNB2_HUMAN Ephrin-B2 (sprot)

An ephrin-B2 that is encoded in the genome of human.


name: NEDD4_HUMAN E3 ubiquitin-protein ligase NEDD4 (sprot)

description: An E3 ubiquitin-protein ligase NEDD4 that is encoded in the genome of human.


name: DPOLA_HUMAN DNA polymerase alpha catalytic subunit (sprot)

description: A DNA polymerase alpha catalytic subunit that is encoded in the genome of human.


fluorometholone

A member of the class of glucocorticoids that is Delta(1)-progesterone substituted at positions 11beta and 17 by hydroxy groups, at position 6alpha by a methyl group and at position 9 by a fluoro group. Used for the treatment of corticosteroid-responsive inflammation of the palpebral and bulbar conjunctiva, cornea and anterior segment of the globe.


atopic conjunctivitis

description: Conjunctivitis due to hypersensitivity to various allergens.


iopromide

A dicarboxylic acid diamide that consists of N-methylisophthalamide bearing three iodo substituents at positions 2, 4 and 6, a methoxyacetyl substituent at position 5 and two 2,3-dihydroxypropyl groups attached to the amide nitrogens. A water soluble x-ray contrast agent for intravascular administration.


cauda equina syndrome

description: Cauda equina syndrome refers to a group of symptoms that occur when some of the nerves in the cauda equina (the bundle of nerves that spread out from the bottom of the spinal cord) become compressed and/or damaged. Signs and symptoms of this condition include pain, numbness, or tingling in the lower back and/or legs; ' foot drop '; problems with bowel and/or bladder control; and sexual dysfunction. Cauda equina syndrome may be caused by a herniated disk, tumor, infection, fracture, or spinal stenosis. Treatment usually targets the underlying cause of the condition and often includes surgery to remove the material that is pressing on the nerves. Physical therapy, occupational therapy, and/or other services may be required if symptoms persist following surgery.


name: SFRP4_HUMAN Secreted frizzled-related protein 4 (sprot)

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


fragile X syndrome

description: A genetic syndrome caused by mutations in the FMR1 gene which is responsible for the expression of the fragile X mental retardation 1 protein. This protein participates in neural development. This syndrome is manifested with mental, emotional, behavioral, physical, and learning disabilities.


phosphatidylethanolamine (16:0/22:6)

A phosphatidylethanolamine 38:6 in which the acyl group at C-1 contains 16 carbons and no double bonds while that at C-2 contains 22 carbons and 6 double bonds.


natamycin

A macrolide antibiotic that has formula C33H47NO13, produced by several Streptomyces species including Streptomyces natalensis. It exhibits broad spectrum antifungal activity and used in eye drops, and as a food preservative, and also as a postharvest biofungicide for citrus and other fruit crops.


name: EEA1_HUMAN Early endosome antigen 1 (sprot)

description: An early endosome antigen 1 that is encoded in the genome of human.


TRIPHENYL PHOSPHATE

An  aryl phosphate resulting from the formal condensation of phosphoric acid with 3 mol eq. of phenol.


name: RIF1_HUMAN Telomere-associated protein RIF1 (sprot)

description: A telomere-associated protein RIF1 that is encoded in the genome of human.


name: LRIF1_HUMAN Ligand-dependent nuclear receptor-interacting factor 1 (sprot)

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


name: STRP2_HUMAN Striatin-interacting protein 2 (sprot)

description: A protein FAM40B that is encoded in the genome of human.


cholesterol sulphate

A steroid sulfate that is cholesterol substituted by a sulfoxy group at position 3.


name: HSC20_HUMAN Iron-sulfur cluster co-chaperone protein HscB (sprot)

description: An iron-sulfur cluster co-chaperone protein HscB that is encoded in the genome of human.


RTN3_HUMAN Reticulon-3 (sprot)

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


colorectal carcinoma

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


cetrorelix

A synthetic ten-membered oligopeptide comprising N-acetyl-3-(naphthalen-2-yl)-D-alanyl, 4-chloro-D-phenylalanyl, 3-(pyridin-3-yl)-D-alanyl, L-seryl, L-tyrosyl, N(5)-carbamoyl-D-ornithyl, L-leucyl, L-arginyl, L-prolyl, and D-alaninamide residues coupled in sequence. A gonadotrophin-releasing hormone (GnRH) antagonist, it is used for treatment of infertility and of hormone-sensitive cancers of the prostate and breast.


name: AKAP3_HUMAN A-kinase anchor protein 3 (sprot)

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


name: AKAP4_HUMAN A-kinase anchor protein 4 (sprot)

description: An A-kinase anchor protein 4 that is encoded in the genome of human.


A monocarboxylic acid that is phenylacetic acid in which the hydrogen at position 3 on the benzene ring is replaced by a hydroxy group.


P2RY4_HUMAN P2Y purinoceptor 4 (sprot)

A P2Y purinoceptor 4 that is encoded in the genome of human.


name: TRPC5_HUMAN Short transient receptor potential channel 5 (sprot)

description: A short transient receptor potential channel 5 that is encoded in the genome of human.


name: ABHDB_HUMAN sn-1-specific diacylglycerol lipase ABHD11 (sprot)

description: An sn-1-specific diacylglycerol lipase ABHD11 that is encoded in the genome of human.


name: TERA_HUMAN Transitional endoplasmic reticulum ATPase (sprot)

description: A transitional endoplasmic reticulum ATPase that is encoded in the genome of human.


name: TACC2_HUMAN Transforming acidic coiled-coil-containing protein 2 (sprot)

description: A transforming acidic coiled-coil-containing protein 2 that is encoded in the genome of human.


ASPARTAME

A dipeptide zwitterion resulting from transfer of a proton from the carboxy to the amino group of aspartame; major species at pH 7.3.


phenylketonuria

description: Phenylketonuria (PKU) is the most common inborn error of amino acid metabolism and is characterized by mild to severe mental disability in untreated patients.


name: ZN746_HUMAN Zinc finger protein 746 (sprot)

description: A zinc finger protein 746 that is encoded in the genome of human.


tethered spinal cord syndrome

description: A progressive neurological disorder characterized by the limitation of movement of the spinal cord within the spine. It is caused by the presence of congenital or acquired tissue attachments in the spinal cord. Signs and symptoms include low back pain, scoliosis, weakness in the legs, and incontinence.


name: BIRC8_HUMAN Baculoviral IAP repeat-containing protein 8 (sprot)

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


name: LAMC1_HUMAN Laminin subunit gamma-1 (sprot)

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


fluticasone propionate

A trifluorinated corticosteroid that consists of 6alpha,9-difluoro-11beta,17alpha-dihydroxy-17beta-{[(fluoromethyl)sulfanyl]carbonyl}-16-methyl-3-oxoandrosta-1,4-diene bearing a propionyl substituent at position 17; has anti-inflammatory, anti-asthmatic and anti-allergic activity.


mucinous ovarian cancer

description: An invasive malignant neoplasm that arises from the ovary and is characterized by the presence of malignant epithelial cells that contain intracytoplasmic mucin and may resemble the epithelial cells of the endocervix or gastrointestinal tract. It includes mucinous adenocarcinoma and mucinous adenocarcinofibroma.


hydrochloric acid

A mononuclear parent hydride consisting of covalently bonded hydrogen and chlorine atoms.


name: IDI1_HUMAN Isopentenyl-diphosphate Delta-isomerase 1 (sprot)

description: An isopentenyl-diphosphate Delta-isomerase 1 that is encoded in the genome of human.


name: RAE1L_HUMAN mRNA export factor RAE1 (sprot)

description: An mRNA export factor RAE1 that is encoded in the genome of human.


name: CDCP1_HUMAN CUB domain-containing protein 1 (sprot)

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


name: TRAC_HUMAN T cell receptor alpha chain constant (sprot)

description: A T cell receptor alpha chain constant that is encoded in the genome of human.


varicella zoster infection

description: A highly contagious viral infection caused by the varicella zoster virus. Clinically, it may be manifested as shingles or chicken pox.


name: FAKD4_HUMAN FAST kinase domain-containing protein 4 (sprot)

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


RSPO1_HUMAN R-spondin-1 (sprot)

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


A 3beta-sterol that is cholesterol carrying an oxo group at position 22.


rezafungin

A member of the family of echinocandins that inhibits 1,3-beta-D-glucan synthase. It is developed by Cidara Therapeutics and approved for the treatment of candidaemia and invasive candidiasis in patients aged >= 18 years who have limited or no alternative treatment options.


name: CYBR1_HUMAN Plasma membrane ascorbate-dependent reductase CYBRD1 (sprot)

description: A plasma membrane ascorbate-dependent reductase CYBRD1 that is encoded in the genome of human.


3-hydroxyanthranilic acid

An  aminobenzoic acid that is benzoic acid substituted at C-2 by an amine group and at C-3 by a hydroxy group. It is an intermediate in the metabolism of the amino acid tryptophan.


name: CELF6_HUMAN CUGBP Elav-like family member 6 (sprot)

description: A CUGBP Elav-like family member 6 that is encoded in the genome of human.


midodrine

An aromatic ether that is 1,4-dimethoxybenzene which is substituted at position 2 by a 2-(glycylamino)-1-hydroxyethyl group. A direct-acting sympathomimetic with selective alpha-adrenergic agonist activity, it is used (generally as its hydrochloride salt) as a peripheral vasoconstrictor in the treatment of certain hypotensive states. The main active moiety is its major metabolite, deglymidodrine.


Riley-Day syndrome

description: A congenital disorder caused by mutations in the IKBKAP gene. It is characterized by damage of the sympathetic and parasympathetic and sensory nervous system.


name: S26A7_HUMAN Anion exchange transporter (sprot)

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


name: CILK1_HUMAN Serine/threonine-protein kinase ICK (sprot)

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


name: GRM2_HUMAN Metabotropic glutamate receptor 2 (sprot)

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


name: RING1_HUMAN E3 ubiquitin-protein ligase RING1 (sprot)

description: An E3 ubiquitin-protein ligase RING1 that is encoded in the genome of human.


fetal alcohol syndrome

description: Fetal alcohol syndrome (FAS) is a rare malformation syndrome caused by excessive maternal consumption of alcohol during pregnancy. It is characterized by prenatal and/or postnatal growth deficiency (weight and/or height <10th percentile), a unique cluster of minor facial anomalies (short palpebral fissures, flat and smooth philtrum, and thin upper lip) and severe central nervous system (CNS) abnormalities including microcephaly, and cognitive and behavioral impairment (intellectual disability, deficit in general cognition, learning and language, executive function, visual-spatial processing, memory, and attention).


name: neuroendocrine cell hyperplasia of infancy

description: Neuroendocrine cell hyperplasia of infancy (NCHI) is a non-lethal pediatric form of interstitial lung disease (ILD) characterized by tachypnea without respiratory failure.


name: 1433S_HUMAN 14-3-3 protein sigma (sprot)

description: A 14-3-3 protein sigma that is encoded in the genome of human.


EMIL2_HUMAN EMILIN-2 (sprot)

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


CASQ2_HUMAN Calsequestrin-2 (sprot)

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


name: WLS_HUMAN Protein wntless homolog (sprot)

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


inflammatory myofibroblastic tumor

description: A multinodular intermediate fibroblastic neoplasm that arises from soft tissue or viscera, in children and young adults. It is characterized by the presence of spindle-shaped fibroblasts and myofibroblasts, and a chronic inflammatory infiltrate composed of eosinophils, lymphocytes, and plasma cells.


name: COQ8A_HUMAN Atypical kinase COQ8A, mitochondrial (sprot)

description: An atypical kinase COQ8A, mitochondrial that is encoded in the genome of human.


TFF3_HUMAN Trefoil factor 3 (sprot)

A trefoil factor 3 that is encoded in the genome of human.


name: LMO3_HUMAN LIM domain only protein 3 (sprot)

description: A LIM domain only protein 3 that is encoded in the genome of human.


levomepromazine

A member of the class of  phenothiazines that is 10H-phenothiazine substituted by a (2R)-3-(dimethylamino)-2-methylpropyl group and a methoxy group at positions 10 and 2 respectively.


name: EPS8_HUMAN Epidermal growth factor receptor kinase substrate 8 (sprot)

description: An epidermal growth factor receptor kinase substrate 8 that is encoded in the genome of human.


gallbladder cancer

description: A malignant neoplasm involving the gall bladder


name: FABPI_HUMAN Fatty acid-binding protein, intestinal (sprot)

description: A fatty acid-binding protein, intestinal that is encoded in the genome of human.


name: HXA3_HUMAN Homeobox protein Hox-A3 (sprot)

description: A homeobox protein Hox-A3 that is encoded in the genome of human.


name: RABP2_HUMAN Cellular retinoic acid-binding protein 2 (sprot)

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


endometrial carcinoma

description: A malignant tumor arising from the epithelium that lines the cavity of the uterine body. The vast majority of endometrial carcinomas are adenocarcinomas; squamous cell and adenosquamous carcinomas represent a minority of the cases. Endometrioid adenocarcinoma is the most frequently seen variant of endometrial adenocarcinoma. Uterine bleeding is an initial clinical sign. The prognosis depends on the stage of the tumor, the depth of myometrial wall invasion, and the degree of differentiation.


name: DHC24_HUMAN Delta(24)-sterol reductase (sprot)

description: A Delta(24)-sterol reductase that is encoded in the genome of human.