name: OTUD5_HUMAN OTU domain-containing protein 5 (sprot)

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


name: S26A6_HUMAN Solute carrier family 26 member 6 (sprot)

description: A solute carrier family 26 member 6 that is encoded in the genome of human.


name: NLRX1_HUMAN NLR family member X1 (sprot)

description: An NLR family member X1 that is encoded in the genome of human.


name: DLG2_HUMAN Disks large homolog 2 (sprot)

description: A disks large homolog 2 that is encoded in the genome of human.


name: OSR2_HUMAN Protein odd-skipped-related 2 (sprot)

description: A protein odd-skipped-related 2 that is encoded in the genome of human.


extranodal nasal NK/T cell lymphoma

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

description: Extranodal nasal NK/T cell lymphoma (NKTCL) is a rare, malignant neoplasm mainly affecting men in the fifth decade of life, that usually arises in the nose, paranasal sinuses, orbits or upper airway, and that can present with a nasal mass, nasal bleeding, nasal obstruction, palate perforation (i.e. midline perforation of the hard palate), and mid-facial and/or upper airway destructive lesions. In advanced disease stages, which are associated with a poor prognosis, NKTCL may disseminate to other organs. A few cases of NKTCL presenting primarily in the lymph nodes have also been described.


MAGL2_HUMAN MAGE-like protein 2 (sprot)

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


name: TPM4_HUMAN Tropomyosin alpha-4 chain (sprot)

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


name: PDLI3_HUMAN PDZ and LIM domain protein 3 (sprot)

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


oral cavity squamous cell carcinoma

description: A squamous cell carcinoma arising from the oral cavity. It affects predominantly adults in their fifth and sixth decades of life and is associated with alcohol and tobacco use. Human papillomavirus is present in approximately half of the cases. It is characterized by a tendency to metastasize early to the lymph nodes. When the tumor is small, patients are often asymptomatic. Physical examination may reveal erythematous or white lesions or plaques. The majority of patients present with signs and symptoms of locally advanced disease including mucosal ulceration, pain, difficulty with speaking, chewing, and swallowing, bleeding, weight loss, and neck swelling. Patients may also present with swollen neck lymph nodes without any symptoms from the oropharyngeal tumor. The most significant prognostic factors are the size of the tumor and the lymph nodes status.


name: MARH9_HUMAN E3 ubiquitin-protein ligase MARCHF9 (sprot)

description: An E3 ubiquitin-protein ligase MARCHF9 that is encoded in the genome of human.


Renal necrosis

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

description: Cell death (necrosis) affecting one or more parts of the kidney.


name: T178B_HUMAN Transmembrane protein 178B (sprot)

description: A transmembrane protein 178B that is encoded in the genome of human.


name: ABCBA_HUMAN ATP-binding cassette sub-family B member 10, mitochondrial (sprot)

description: An ATP-binding cassette sub-family B member 10, mitochondrial that is encoded in the genome of human.


name: SPCS1_HUMAN Signal peptidase complex subunit 1 (sprot)

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


HEPTANOATE

A C7, straight-chain fatty acid that contributes to the odour of some rancid oils. Used in the preparation of esters for the fragrance industry, and as an additive in cigarettes.


QUINOLINE

The simplest member of the quinoline class of compounds, comprising a benzene ring ortho fused to C-2 and C-3 of a pyridine ring.


name: AT2C2_HUMAN Calcium-transporting ATPase type 2C member 2 (sprot)

description: A calcium-transporting ATPase type 2C member 2 that is encoded in the genome of human.


macular degeneration

description: Loss of vision in the central portion of the retina (macula), secondary to retinal degeneration.


HYAL4_HUMAN Hyaluronidase-4 (sprot)

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


oligospermia

description: Decreased number of spermatozoa in the semen.


UT2_HUMAN Urea transporter 2 (sprot)

A urea transporter 2 that is encoded in the genome of human.


flunixin

A pyridinemonocarboxylic acid that is nicotinic acid substituted at position 2 by a 2-methyl-3-(trifluoromethyl)phenylamino group. A relatively potent non-narcotic, nonsteroidal analgesic with anti-inflammatory, anti-endotoxic and anti-pyretic properties; used in veterinary medicine (usually as the meglumine salt) for treatment of horses, cattle and pigs.


name: AF1L2_HUMAN Actin filament-associated protein 1-like 2 (sprot)

description: An actin filament-associated protein 1-like 2 that is encoded in the genome of human.


KERA_HUMAN Keratocan (sprot)

A keratocan that is encoded in the genome of human.


Sandhoff disease

description: Sandhoff disease is a lysosomal storage disorder from the GM2 gangliosidosis family and is characterized by central nervous system degeneration.


name: MEOX2_HUMAN Homeobox protein MOX-2 (sprot)

description: A homeobox protein MOX-2 that is encoded in the genome of human.


aminosalicylic acid

An aminobenzoic acid that is salicylic acid substituted by an amino group at position 4.


diacylglycerol (16:0/22:4/0:0)

A 1,2-diglyceride in which the fatty acyl groups at positions 1 and 2 are specified as C16:0 and C22:4 respectively.


DOG

1,2-diacyl-sn-glycerol in which both the 1- and 2-acyl groups are specified as octanoyl. Formula C19H36O5.


name: PLA1A_HUMAN Phospholipase A1 member A (sprot)

description: A phospholipase A1 member A that is encoded in the genome of human.


name: ACTL8_HUMAN Actin-like protein 8 (sprot)

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


heparin-induced thrombocytopenia

description: Heparin-induced thrombocytopenia (HIT) is a drug-induced, immune-mediated prothrombotic disorder associated with thrombocytopenia and venous and/or arterial thrombosis.


radiculopathy

description: Disease involving a spinal nerve root (see spinal nerve roots) which may result from compression related to intervertebral disk displacement; spinal cord injuries; spinal diseases; and other conditions. Clinical manifestations include radicular pain, weakness, and sensory loss referable to structures innervated by the involved nerve root.


BASI_HUMAN Basigin (sprot)

A basigin that is encoded in the genome of human.


name: CO8A1_HUMAN Collagen alpha-1(VIII) chain (sprot)

description: A collagen alpha-1(VIII) chain that is encoded in the genome of human.


name: ATS18_HUMAN A disintegrin and metalloproteinase with thrombospondin motifs 18 (sprot)

description: An a disintegrin and metalloproteinase with thrombospondin motifs 18 that is encoded in the genome of human.


central nervous system leukemia

description: Leukemia infiltrating the central nervous system structures.


name: OBF1_HUMAN POU domain class 2-associating factor 1 (sprot)

description: A POU domain class 2-associating factor 1 that is encoded in the genome of human.


prostatitis

description: An infectious or non-infectious inflammatory process affecting the prostate gland.


name: UB2G2_HUMAN Ubiquitin-conjugating enzyme E2 G2 (sprot)

description: A ubiquitin-conjugating enzyme E2 G2 that is encoded in the genome of human.


spinocerebellar ataxia type 2

description: A subtype of type I autosomal dominant cerebellar ataxia (ADCA type I) characterized by truncal ataxia, dysarthria, slowed saccades and less commonly ophthalmoparesis and chorea.


phosphatidylcholine (20:2/22:6)

A phosphatidylcholine 42:8 in which the fatty acyl groups at positions 1 and 2 are specified as C20:2 and C22:6 respectively.


name: RFC2_HUMAN Replication factor C subunit 2 (sprot)

description: A replication factor C subunit 2 that is encoded in the genome of human.


benign muscle neoplasm

description: A benign mesenchymal neoplasm arising from smooth, skeletal, or cardiac muscle tissue.


malignant breast melanoma

description: A melanoma that arises usually from the breast skin and less often from the breast glandular tissue. Primary breast melanomas are rare.


name: adult acute respiratory distress syndrome

description: A very severe form of acute pulmonary failure secondary to capillary permeability impairment. The symptoms include dyspnea, hypotension and multivisceral failure. The disease is characterized by bilateral pulmonary infiltrates and severe hypoxemia due to increased alveolar-capillary permeability. The severity depends on the degree of alveolar epithelial injury, with a mortality rate of 30-50%.


A  hydroxybenzaldehyde that is benzaldehyde substituted with a hydroxy group at position C-4.


name: SLTM_HUMAN SAFB-like transcription modulator (sprot)

description: A SAFB-like transcription modulator that is encoded in the genome of human.


sertindole

A phenylindole that is 1H-indole which is substituted on the nitrogen by a p-chlorophenyl group, at position 5 by chlorine, and at position 3 by a piperidin-4-yl group, which is itself substituted on the nitrogen by a 2-(2-oxoimidazolidin-1-yl)ethyl group.


NEUR2_HUMAN Sialidase-2 (sprot)

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


name: GDIR1_HUMAN Rho GDP-dissociation inhibitor 1 (sprot)

description: A Rho GDP-dissociation inhibitor 1 that is encoded in the genome of human.


name: PRP4K_HUMAN Serine/threonine-protein kinase PRP4 homolog (sprot)

description: A serine/threonine-protein kinase PRP4 that is encoded in the genome of human.


name: PAQR9_HUMAN Membrane progestin receptor epsilon (sprot)

description: A membrane progestin receptor epsilon that is encoded in the genome of human.


name: PF4V_HUMAN Platelet factor 4 variant (sprot)

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


name: BRMS1_HUMAN Breast cancer metastasis-suppressor 1 (sprot)

description: A breast cancer metastasis-suppressor 1 that is encoded in the genome of human.


TKN1_HUMAN Protachykinin-1 (sprot)

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


name: RHBL4_HUMAN Rhomboid-related protein 4 (sprot)

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


isolated tracheo-esophageal fistula

description: A congenital or acquired abnormal communication between the trachea and the esophagus.


LINOLEOYLETHANOLAMIDE

An N-acylethanolamine 18:2 that is the ethanolamide of linoleic acid.


name: PARP9_HUMAN Protein mono-ADP-ribosyltransferase PARP9 (sprot)

description: A protein mono-ADP-ribosyltransferase PARP9 that is encoded in the genome of human.


name: CCL17_HUMAN C-C motif chemokine 17 (sprot)

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


name: COCA1_HUMAN Collagen alpha-1(XII) chain (sprot)

description: A collagen alpha-1(XII) chain that is encoded in the genome of human.


triptorelin

An oligopeptide comprising pyroglutamyl, histidyl, tryptophyl, seryl, tyrosyl, D-tryptophyl, leucyl, arginyl, prolyl and glycinamide residues joined in sequence. It is an agonist analogue of gonadotropin-releasing hormone.


cholanic acid

A steroid acid that consists of cholane having a carboxy group in place of the methyl group at position 24.


name: DCDC2_HUMAN Doublecortin domain-containing protein 2 (sprot)

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


MYOZ2_HUMAN Myozenin-2 (sprot)

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


name: CTL4_HUMAN Choline transporter-like protein 4 (sprot)

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


name: DYL1_HUMAN Dynein light chain 1, cytoplasmic (sprot)

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


vascular neoplasm

description: A benign, intermediate, or malignant neoplasm arising from vascular tissue including arteries, veins, venous sinuses, lymphatic vessels, arterioles and capillaries. It may occur in essentially any body location and is characterized by the presence of vascular channel formation and endothelial cells.


coenzyme A

A thiol comprising a panthothenate unit in phosphoric anhydride linkage with a 3',5'-adenosine diphosphate unit; and an aminoethanethiol unit.


name: AHSA1_HUMAN Activator of 90 kDa heat shock protein ATPase homolog 1 (sprot)

description: An activator of 90 kDa heat shock protein ATPase homolog 1 that is encoded in the genome of human.


Rhabdomyolysis

description: Breakdown of muscle fibers that leads to the release of muscle fiber contents (myoglobin) into the bloodstream.


name: HYPDH_HUMAN Hydroxyproline dehydrogenase (sprot)

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


name: ZBT8A_HUMAN Zinc finger and BTB domain-containing protein 8A (sprot)

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


SEPT6_HUMAN Septin-6 (sprot)

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


ilomastat

An N-acyl-amino acid obtained by formal condensation of the carboxy group of (2R)-2-[2-(hydroxyamino)-2-oxoethyl]-4-methylpentanoic acid with the amino group of N-methyl-L-tryptophanamide. A cell permeable broad-spectrum matrix metalloproteinase (MMP) inhibitor


name: EFHD2_HUMAN EF-hand domain-containing protein D2 (sprot)

description: An EF-hand domain-containing protein D2 that is encoded in the genome of human.


autoimmune glomerulonephritis

description: An autoimmune form of glomerulonephritis (disease).


name: IPYR2_HUMAN Inorganic pyrophosphatase 2, mitochondrial (sprot)

description: An inorganic pyrophosphatase 2, mitochondrial that is encoded in the genome of human.


name: ROA2_HUMAN Heterogeneous nuclear ribonucleoproteins A2/B1 (sprot)

description: A heterogeneous nuclear ribonucleoproteins A2/B1 that is encoded in the genome of human.


pancreatic endocrine carcinoma

description: An aggressive, high-grade and poorly differentiated carcinoma with neuroendocrine differentiation that arises from the pancreas. The mitotic count is more than 20 per 10 HPF. According to the size of the malignant cells, the prominence of the nucleoli, and the amount of cytoplasm, it is classified either as small or large cell neuroendocrine carcinoma.


undifferentiated pleomorphic sarcoma

description: An undifferentiated soft tissue sarcoma characterized by the presence of a pleomorphic malignant cellular infiltrate. It is also known as malignant fibrous histiocytoma.


name: GAK1B_HUMAN Golgi-associated kinase 1B (sprot)

description: A Golgi-associated kinase 1B that is encoded in the genome of human.


phosphatidylethanolamine (P-18:0/20:3)

A phosphatidylethanolamine P-38:3 in which the 1-alkenyl group contains 18 carbons and no additional double bonds while the acyl group contains 20 carbons and 3 double bonds.


chlorpheniramine

A tertiary amino compound that is propylamine which is substituted at position 3 by a pyridin-2-yl group and a p-chlorophenyl group and in which the hydrogens attached to the nitrogen are replaced by methyl groups. A histamine H1 antagonist, it is used to relieve the symptoms of hay fever, rhinitis, urticaria, and asthma.


name: PLPP3_HUMAN Phospholipid phosphatase 3 (sprot)

description: A phospholipid phosphatase 3 that is encoded in the genome of human.


name: ZCHC2_HUMAN Zinc finger CCHC domain-containing protein 2 (sprot)

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


NRN1_HUMAN Neuritin (sprot)

A neuritin that is encoded in the genome of human.


name: SLD5_HUMAN DNA replication complex GINS protein SLD5 (sprot)

description: A DNA replication complex GINS protein SLD5 that is encoded in the genome of human.


name: NANOG_HUMAN Homeobox protein NANOG (sprot)

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


name: RPE65_HUMAN Retinoid isomerohydrolase (sprot)

description: A retinal pigment epithelium-specific 65 kDa protein that is encoded in the genome of human.


ritanserin

A thiazolopyrimidine that is 5H-[1,3]thiazolo[3,2-a]pyrimidin-5-one which is substituted at position 7 by a methyl group and at position 6 by a 2-{4-[bis(4-fluorophenyl)methylidene]piperidin-1-yl}ethyl group. A potent and long-acting seratonin (5-hydroxytryptamine, 5-HT) antagonist of the subtype 5-HT2 (Ki = 0.39 nM), it is used in the treatment of a variety of disorders including anxiety, depression and schizophrenia. It has little sedative action.


name: ZSWM7_HUMAN Zinc finger SWIM domain-containing protein 7 (sprot)

description: A zinc finger SWIM domain-containing protein 7 that is encoded in the genome of human.


travoprost

The isopropyl ester of prostaglandin F2alpha in which the pentyl group is replaced by a 3-(trifluoromethyl)phenoxymethyl group. A synthetic analogue of prostaglandin F2alpha, ophthalmic solutions of travoprost are used as a topical medication for controlling the progression of open-angle glaucoma and ocular hypertension, by reducing intraocular pressure. It is a pro-drug; the isopropyl ester group is hydrolysed by esterases in the cornea to the biologically active free acid, fluprostenol.


name: KIF2B_HUMAN Kinesin-like protein KIF2B (sprot)

description: A kinesin-like protein KIF2B that is encoded in the genome of human.


Kufor-Rakeb syndrome

description: Kufor-Rakeb syndrome (KRS) is a rare genetic neurodegenerative disorder characterized by juvenile Parkinsonism, pyramidal degeneration (dystonia), supranuclear palsy, and cognitive impairment.


vortioxetine

An N-arylpiperazine in which the aryl group is specified as 2-[(2,4-dimethylphenyl)sulfanyl]phenyl. Used (as its hydrobromide salt) for treatment of major depressive disorder.


name: FRS2_HUMAN Fibroblast growth factor receptor substrate 2 (sprot)

description: A fibroblast growth factor receptor substrate 2 that is encoded in the genome of human.


name: ECI1_HUMAN Enoyl-CoA delta isomerase 1, mitochondrial (sprot)

description: An enoyl-CoA Delta isomerase 1, mitochondrial that is encoded in the genome of human.


name: TPIP1_HUMAN p53-regulated apoptosis-inducing protein 1 (sprot)

description: A p53-regulated apoptosis-inducing protein 1 that is encoded in the genome of human.


name: EGR4_HUMAN Early growth response protein 4 (sprot)

description: An early growth response protein 4 that is encoded in the genome of human.


staphylococcal toxic-shock syndrome

description: Staphylococcal toxic shock syndrome (staphylococcal TSS) is an acute disease mediated by the production of superantigenic toxins, characterized by high fever, skin rash followed by skin peeling, hypotension, vomiting, diarrhea and potentially leading to multisystem organ failure and caused by a Staphylococcus aureus bacterial infection.


NEBL_HUMAN Nebulette (sprot)

A nebulette that is encoded in the genome of human.


name: EDIL3_HUMAN EGF-like repeat and discoidin I-like domain-containing protein 3 (sprot)

description: An EGF-like repeat and discoidin I-like domain-containing protein 3 that is encoded in the genome of human.


name: MAGA1_HUMAN Melanoma-associated antigen 1 (sprot)

description: A melanoma-associated antigen 1 that is encoded in the genome of human.


name: BNC2_HUMAN Zinc finger protein basonuclin-2 (sprot)

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


name: PPRC1_HUMAN Peroxisome proliferator-activated receptor gamma coactivator-related protein 1 (sprot)

description: A peroxisome proliferator-activated receptor gamma coactivator-related protein 1 that is encoded in the genome of human.


name: UB2D1_HUMAN Ubiquitin-conjugating enzyme E2 D1 (sprot)

description: A ubiquitin-conjugating enzyme E2 D1 that is encoded in the genome of human.


Psoriasiform lesion

description: A skin lesions that resembles the lesions observed in psoriasis, viz., an erythematous plaque covered by fine silvery scales. Psoriasiform lesions can be observed in psoriasis as well as in other conditions including allergic contact dermatitis, seborrhoeic dermatitis, Atopic dermatitis, pityriasis rubra, and lichen simplex chronicus.


CP2J2_HUMAN Cytochrome P450 2J2 (sprot)

A cytochrome P450 2J2 that is encoded in the genome of human.


name: DCX_HUMAN Neuronal migration protein doublecortin (sprot)

description: A neuronal migration protein doublecortin that is encoded in the genome of human.


name: PCBP1_HUMAN Poly(rC)-binding protein 1 (sprot)

description: A poly(rC)-binding protein 1 that is encoded in the genome of human.


name: TPBG_HUMAN Trophoblast glycoprotein (sprot)

description: A trophoblast glycoprotein that is encoded in the genome of human.


name: CTHR1_HUMAN Collagen triple helix repeat-containing protein 1 (sprot)

description: A collagen triple helix repeat-containing protein 1 that is encoded in the genome of human.


name: MTREX_HUMAN Exosome RNA helicase MTR4 (sprot)

description: An exosome RNA helicase MTR4 that is encoded in the genome of human.


AA amyloidosis

description: Secondary amyloidosis is a form of amyloidosis, that complicates chronic inflammatory disorders (mainly rheumatoid arthritis) and is characterized by the aggregation and deposition of amyloid fibrils composed of serum amyloid A protein, an acute phase reactant. Although spleen, suprarenal gland, liver and gut are frequent sites of amyloid deposition, the clinical picture is dominated by renal involvement.


name: ZN667_HUMAN Zinc finger protein 667 (sprot)

description: A zinc finger protein 667 that is encoded in the genome of human.


name: UCP4_HUMAN Mitochondrial uncoupling protein 4 (sprot)

description: A mitochondrial uncoupling protein 4 that is encoded in the genome of human.


name: IRX3_HUMAN Iroquois-class homeodomain protein IRX-3 (sprot)

description: An iroquois-class homeodomain protein IRX-3 that is encoded in the genome of human.


name: SIM1_HUMAN Single-minded homolog 1 (sprot)

description: A single-minded homolog 1 that is encoded in the genome of human.


name: 5H-Indeno(1,2-C)isoquinoline-9-sulfonamide, 6,11-dihydro-N-(3-(4-morpholinyl)propyl)-5-oxo-, methanesulfonate (1:1)


name: ELF1_HUMAN ETS-related transcription factor Elf-1 (sprot)

description: An ETS-related transcription factor Elf-1 that is encoded in the genome of human.


ear infection

description: A viral or bacterial infection that affects the external, middle, or inner ear. It may follow an upper respiratory infection. Signs and symptoms include pain, ear discharge, ear fullness, hearing loss, vertigo, nausea, and vomiting.


CYTB_HUMAN Cystatin-B (sprot)

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


tyrosinemia type I

description: Tyrosinemia type 1 (HTI) is an inborn error of tyrosine catabolism caused by defective activity of fumarylacetoacetate hydrolase (FAH) and is characterized by progressive liver disease, renal tubular dysfunction, porphyria-like crises and a dramatic improvement in prognosis following treatment with nitisinone.


name: OSTB_HUMAN Organic solute transporter subunit beta (sprot)

description: An organic solute transporter subunit beta that is encoded in the genome of human.


bone marrow cancer

description: Malignant neoplasms that either originate from the bone marrow (e.g. myeloid leukemias) or involve the bone marrow as secondary-metastatic tumors (e.g. metastatic carcinomas to the bone marrow). --2003


name: CLAP2_HUMAN CLIP-associating protein 2 (sprot)

description: A CLIP-associating protein 2 that is encoded in the genome of human.


oropharynx squamous cell carcinoma

description: A squamous cell carcinoma that involves the oropharynx.


name: KSR2_HUMAN Kinase suppressor of Ras 2 (sprot)

description: A kinase suppressor of Ras 2 that is encoded in the genome of human.


name: CAND2_HUMAN Cullin-associated NEDD8-dissociated protein 2 (sprot)

description: A cullin-associated NEDD8-dissociated protein 2 that is encoded in the genome of human.


name: CD4_HUMAN T-cell surface glycoprotein CD4 (sprot)

description: A CD4 molecule that is encoded in the genome of human.


PUM1_HUMAN Pumilio homolog 1 (sprot)

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


name: AMYP_HUMAN Pancreatic alpha-amylase (sprot)

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


Conjugated hyperbilirubinemia

description: Abnormally high level of conjugated bilirubin in the blood.


name: BRCC3_HUMAN Lys-63-specific deubiquitinase BRCC36 (sprot)

description: A lys-63-specific deubiquitinase BRCC36 that is encoded in the genome of human.


name: UBR4_HUMAN E3 ubiquitin-protein ligase UBR4 (sprot)

description: An E3 ubiquitin-protein ligase UBR4 that is encoded in the genome of human.


congenital afibrinogenemia

description: Familial afibrinogenemia is a coagulation disorder characterized by bleeding symptoms due to a complete absence of circulating fibrinogen.


name: STXB4_HUMAN Syntaxin-binding protein 4 (sprot)

description: A syntaxin-binding protein 4 that is encoded in the genome of human.


primidone

A pyrimidone that is dihydropyrimidine-4,6(1H,5H)-dione substituted by an ethyl and a phenyl group at position 5. It is used as an  anticonvulsant for treatment of various types of seizures.


name: HPCL4_HUMAN Hippocalcin-like protein 4 (sprot)

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


simian immunodeficiency virus infection

description: An infection affecting monkeys, chimpanzees, and other non human primates caused by a HIV-like virus.


orotic acid

A pyrimidinemonocarboxylic acid that is uracil bearing a carboxy substituent at position C-6.


chronic venous insufficiency

description: Chronic form of venous insufficiency (disease).


Alexander disease

description: Alexander disease (AxD) is a rare neurodegenerative disorder of the astrocytes comprised of two clinical forms: AxD Type I and Type II manifesting with various degrees of macrocephaly, spasticity, ataxia and seizures and leading to psychomotor regression and death.


glycogen storage disease II

description: Glycogen storage disease due to acid maltase deficiency (AMD) is an autosomal recessive trait leading to metabolic myopathy that affects cardiac and respiratory muscles in addition to skeletal muscle and other tissues. AMD represents a wide spectrum of clinical presentations caused by an accumulation of glycogen in lysosomes: Glycogen storage disease due to acid maltase deficiency, infantile onset, non-classic infantile onset and adult onset. Early onset forms are more severe and often fatal.


gastric neoplasm

description: A benign or malignant neoplasm involving the stomach.


pituitary tumor

description: A benign or malignant neoplasm affecting the pituitary gland. The vast majority are adenomas arising from the anterior lobe of the pituitary gland.


ACTN4_HUMAN Alpha-actinin-4 (sprot)

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


SCAFB_HUMAN Protein SCAF11 (sprot)

A protein SCAF11 that is encoded in the genome of human.


name: ATAD1_HUMAN Outer mitochondrial transmembrane helix translocase (sprot)

description: An outer mitochondrial transmembrane helix translocase that is encoded in the genome of human.


name: ARC_HUMAN Activity-regulated cytoskeleton-associated protein (sprot)

description: An activity-regulated cytoskeleton-associated protein that is encoded in the genome of human.


pentetrazol

An organic heterobicyclic compound that is 1H-tetrazole in which the hydrogens at positions 1 and 5 are replaced by a pentane-1,5-diyl group. A central and respiratory stimulant, it was formerly used for the treatment of cough and other respiratory tract disorders, cardiovascular disorders including hypotension, and pruritis.


name: TRI37_HUMAN E3 ubiquitin-protein ligase TRIM37 (sprot)

description: An E3 ubiquitin-protein ligase TRIM37 that is encoded in the genome of human.


name: TM6S2_HUMAN Transmembrane 6 superfamily member 2 (sprot)

description: A transmembrane 6 superfamily member 2 that is encoded in the genome of human.


name: PSMD9_HUMAN 26S proteasome non-ATPase regulatory subunit 9 (sprot)

description: A 26S proteasome non-ATPase regulatory subunit 9 that is encoded in the genome of human.


ITB5_HUMAN Integrin beta-5 (sprot)

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


cefalotin

A semisynthetic, first-generation cephalosporin antibiotic with acetoxymethyl and (2-thienylacetyl)nitrilo moieties at positions 3 and 7, respectively, of the core structure. Administered parenterally during surgery and to treat a wide spectrum of blood infections.


name: HINFP_HUMAN Histone H4 transcription factor (sprot)

description: A histone H4 transcription factor that is encoded in the genome of human.


An primary alcohol that is butan-1-ol in which a hydrogen at position 3 has been replaced by a methyl group.


tideglusib

A member of the class of thiadiazolidines that is 1,2,4-thiadiazolidine-3,5-dione which is substituted by a naphthalen-1-yl group at position 2 and by a benzyl group at position 4. It is a non-ATP competitive inhibitor of glycogen synthase kinase 3beta (GSK3beta) and has neuroprotective effects. Currently under clinical investigation for the treatment of Alzheimer's disease and progressive supranuclear palsy.


ABIETIC ACID

An abietane diterpenoid that is abieta-7,13-diene substituted by a carboxy group at position 18.


phosphatidylcholine (O-16:1/20:4)

A 2-acyl-1-alkyl-sn-glycero-3-phosphocholine in which the acyl group contains 20 carbons and 4 double bonds while the alkyl group contains 16 carbons and 1 double bond.


name: MAD1_HUMAN Max dimerization protein 1 (sprot)

description: A max dimerization protein 1 that is encoded in the genome of human.


ITA8_HUMAN Integrin alpha-8 (sprot)

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


pyridoxal phosphate-responsive seizures

description: Pyridoxal phosphate-responsive seizures is a very rare neonatal epileptic encephalopathy disorder characterized clinically by onset of severe seizures within hours of birth that are not responsive to anticonvulsants, but are responsive to treatment with pyridoxal phosphate.


glucocorticoid-induced osteoporosis

description: An osteoporosis caused by chronic glucocorticoid use. Glucocorticoids impair the replication, differentiation and function of osteoblasts and induce the apoptosis of mature osteoblasts and osteocytes; the also favor osteoclastogenesis leading to an increase in bone resorption.


hydrocephalus

description: A disorder characterized by an abnormal increase of cerebrospinal fluid in the ventricles of the brain.


name: PLK3_HUMAN Serine/threonine-protein kinase PLK3 (sprot)

description: A serine/threonine-protein kinase PLK3 that is encoded in the genome of human.


phosphatidylcholine (P-34:2)

A 1-O-(alk-1-enyl)-2-O-acyl-sn-glycero-3-phosphocholine in which the unspecified alk-1-enyl and acyl groups at positions 1 and 2 contain 34 carbon atoms in total with 2 additional double bonds in the acyl moiety.


calcium citrate

An organic calcium salt composed of calcium cations and citrate anions in a 3:2 ratio.


neonatal abstinence syndrome

description: A constellation of neurobehavioral features observed in a neonate following antenatal exposure to drugs including opioids, benzodiazepines, and selective serotonin reuptake inhibitors.


name: BACH1_HUMAN Transcription regulator protein BACH1 (sprot)

description: A transcription regulator protein BACH1 that is encoded in the genome of human.


diverticulitis

description: An infection that develops in the diverticula of the intestinal tract. Signs and symptoms include abdominal pain, fever, and leukocytosis.


name: 5HT1A_HUMAN 5-hydroxytryptamine receptor 1A (sprot)

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


VNN1_HUMAN Pantetheinase (sprot)

A pantetheinase that is encoded in the genome of human.


name: S22A4_HUMAN Solute carrier family 22 member 4 (sprot)

description: A solute carrier family 22 member 4 that is encoded in the genome of human.


SODIUM TETRADECYL SULFATE

An organic sodium salt having tetradecyl sulfate as the counterion. Used in the treatment of small uncomplicated varicose veins of the lower extremities that show simple dilation with competent valves.


acamprosate

An  organosulfonic acid that is propane-1-sulfonic acid substituted by an acetylamino group at position 3.


1'-acetoxyeugenol acetate

An acetate ester that is eugenol acetate substituted by an acetoxy group at position 1.


maxillary sinus carcinoma

description: A carcinoma that arises from the maxillary sinus. Representative examples include squamous cell carcinoma, adenocarcinoma, and adenoid cystic carcinoma.


name: ENTP8_HUMAN Ectonucleoside triphosphate diphosphohydrolase 8 (sprot)

description: An ectonucleoside triphosphate diphosphohydrolase 8 that is encoded in the genome of human.


name: ATP4B_HUMAN Potassium-transporting ATPase subunit beta (sprot)

description: A potassium-transporting ATPase subunit beta that is encoded in the genome of human.


phosphatidylcholine (P-16:0/16:1)

A phosphatidylcholine P-32:1 in which the 1-alk-1-enyl group contains 16 carbons and no additional double bonds while the 2-acyl group contains 16 carbons and 1 double bond.


name: XRN1_HUMAN 5'-3' exoribonuclease 1 (sprot)

description: A 5'-3' exoribonuclease 1 that is encoded in the genome of human.


name: PEX13_HUMAN Peroxisomal membrane protein PEX13 (sprot)

description: A peroxisomal membrane protein PEX13 that is encoded in the genome of human.


name: ASGR1_HUMAN Asialoglycoprotein receptor 1 (sprot)

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


name: RSU1_HUMAN Ras suppressor protein 1 (sprot)

description: A Ras suppressor protein 1 that is encoded in the genome of human.


PHB2_HUMAN Prohibitin-2 (sprot)

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


FAT2_HUMAN Protocadherin Fat 2 (sprot)

A protocadherin Fat 2 that is encoded in the genome of human.


name: PDLI1_HUMAN PDZ and LIM domain protein 1 (sprot)

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


enasidenib

A 1,3,5-triazine which is substituted by (2-hydroxy-2-methylpropyl)nitrilo, 6-(trifluoromethyl)pyridin-2-yl and [2-(trifluoromethyl)pyridin-4-yl]nitrilo groups at positions 2,4 and 6, respectively. It is an isocitrate dehydrogenase-2 (IDH2) inhibitor which has been approved for the treatment of adults with relapsed or refractory acute myeloid leukaemia (AML).


name: KCNA1_HUMAN Potassium voltage-gated channel subfamily A member 1 (sprot)

description: A voltage-gated potassium channel subunit KCNA1 that is encoded in the genome of human.


name: L2GL1_HUMAN Lethal(2) giant larvae protein homolog 1 (sprot)

description: A lethal(2) giant larvae protein homolog 1 that is encoded in the genome of human.


name: AGRE2_HUMAN Adhesion G protein-coupled receptor E2 (sprot)

description: An adhesion G protein-coupled receptor E2 that is encoded in the genome of human.


name: ACM2_HUMAN Muscarinic acetylcholine receptor M2 (sprot)

description: A muscarinic acetylcholine receptor M2 that is encoded in the genome of human.


quizartinib

A member of the class of phenylureas that is urea in which one of the amino groups has been substituted by a 5-tert-butyl-1,2-oxazol-3-yl group while the other has been substituted by a phenyl group substituted at the para- position by an imidazo[2,1-b][1,3]benzothiazol-2-yl group that, in turn, is substituted at position 7 by a 2-(morpholin-4-yl)ethoxy group.


hypokalemic periodic paralysis

description: Hypokalemic periodic paralysis (hypoPP) is characterized by episodes of muscle paralysis lasting from a few to 24-48 hours and associated with a fall in blood potassium levels.


name: MYO1D_HUMAN Unconventional myosin-Id (sprot)

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


name: DD19A_HUMAN ATP-dependent RNA helicase DDX19A (sprot)

description: An ATP-dependent RNA helicase DDX19A that is encoded in the genome of human.


Hypertrophied muscle fibers

description: The presence of an increased amount of muscle fibers with an increased diameter. This feature can be ascertained by microscopic examination of a muscle biopsy sample. Together with fiber size variation and atrophied muscle fibers, and hypertrophied muscle fibers are commonly found in myopathies.


name: GYS1_HUMAN Glycogen [starch] synthase, muscle (sprot)

description: A glycogen [starch] synthase, muscle that is encoded in the genome of human.


nisoldipine

A racemate consisting of equimolar amounts of (R)- and (S)-nisoldipine. A calcium channel blocker, it is used in the treatment of hypertension and angina pectoris.


ovarian serous adenocarcinoma

description: An adenocarcinoma that arises from the ovary and is characterized by the presence of malignant epithelial cells that, in well differentiated tumors, resemble the epithelium of the fallopian tube or, in poorly differentiated tumors, show anaplastic features and marked nuclear atypia.


name: TVA19_HUMAN T cell receptor alpha variable 19 (sprot)

description: A protein that is a translation product of the TRAV19 gene in human.


calcitonin (salmon)

A 32-membered heterodetic cyclic peptide comprising the sequence Cys-Ser-Asn-Leu-Ser-Thr-Cys-Val-Leu-Gly-Lys-Leu-Ser-Gln-Glu-Leu-His-Lys-Leu-Gln-Thr-Tyr-Pro-Arg-Thr-Asn-Thr-Gly-Ser-Gly-Thr-Pro-NH2 cyclised by a disulfide bridge between the two Cys residues at positions 1 and 7.


name: S1PR4_HUMAN Sphingosine 1-phosphate receptor 4 (sprot)

description: A sphingosine 1-phosphate receptor 4 that is encoded in the genome of human.


name: RFIP2_HUMAN Rab11 family-interacting protein 2 (sprot)

description: A Rab11 family-interacting protein 2 that is encoded in the genome of human.


name: MITOS_HUMAN Mitochondrial potassium channel ATP-binding subunit (sprot)

description: A mitochondrial potassium channel ATP-binding subunit that is encoded in the genome of human.


name: EEPD1_HUMAN Endonuclease/exonuclease/phosphatase family domain-containing protein 1 (sprot)

description: An endonuclease/exonuclease/phosphatase family domain-containing protein 1 that is encoded in the genome of human.


name: NUBP1_HUMAN Cytosolic Fe-S cluster assembly factor NUBP1 (sprot)

description: A cytosolic Fe-S cluster assembly factor NUBP1 that is encoded in the genome of human.


mercurochrome

An organic sodium salt that is 2,7-dibromo-4-hydroxymercurifluorescein in which the carboxy group and the phenolic hydroxy group have been deprotonated and the resulting charge is neutralised by two sodium ions.


proneural glioblastoma

description: A molecular subtype of glioblastoma that is associated with younger age at presentation and is characterized by p53 mutations and PDGFRa amplifications.


name: DHX34_HUMAN Probable ATP-dependent RNA helicase DHX34 (sprot)

description: A probable ATP-dependent RNA helicase DHX34 that is encoded in the genome of human.


Decreased circulating total IgM

description: An abnormally decreased level of immunoglobulin M (IgM) in blood.


name: MCM7_HUMAN DNA replication licensing factor MCM7 (sprot)

description: A DNA replication licensing factor MCM7 that is encoded in the genome of human.


CLD14_HUMAN Claudin-14 (sprot)

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


capsazepine

A benzazepine that is 2,3,4,5-tetrahydro-1H-2-benzazepine which is substituted by hydroxy groups at positions 7 and 8 and on the nitrogen atom by a 2-(p-chlorophenyl)ethylaminothiocarbonyl group. A synthetic analogue of capsaicin, it was the first reported capsaicin receptor antagonist.


IODOACETIC ACID

A haloacetic acid that is acetic acid in which one of the hydrogens of the methyl group is replaced by an iodine atom.


phosphatidylcholine (22:4/22:6)

A phosphatidylcholine 44:10 in which the fatty acyl groups at positions 1 and 2 are specified as C22:4 and C22:6 respectively.


rebastinib

A member of the class of ureas that is urea in which one of the nitrogens bears a 3-tert-butyl-1-(quinolin-6-yl)-1H-pyrazol-5-yl substituent, while the other bears a 2-fluoro-4-{[2-(methylcarbamoyl)pyridin-4-yl]oxy}phenyl substituent.


2-decenoic acid

A decenoic acid having its double bond in position 2.


name: MIC26_HUMAN MICOS complex subunit MIC26 (sprot)

description: A MICOS complex subunit MIC26 that is encoded in the genome of human.


granulomatosis with polyangiitis

description: A small-vessel necrotizing vasculitis characterized by the association of inflammation of the vessel wall and peri- and extravascular granulomatosis.


name: RIN3_HUMAN Ras and Rab interactor 3 (sprot)

description: A Ras and Rab interactor 3 that is encoded in the genome of human.


secnidazole

A C-nitro compound that is 5-nitroimidazole in which the hydrogens at positions 1 and 2 are replaced by 2-hydroxypropyl and methyl groups, respectively.


vaginitis

description: A non-infectious or infectious inflammatory process affecting the vagina.


name: XRCC4_HUMAN DNA repair protein XRCC4 (sprot)

description: A DNA repair protein XRCC4 that is encoded in the genome of human.


Splanchnic vein thrombosis

description: The term splanchnic vein thrombosis encompasses Budd-Chiari syndrome (hepatic vein thrombosis), extrahepatic portal vein obstruction (EHPVO), and mesenteric vein thrombosis; the word splanchnic is used to refer to the visceral organs (of the abdominal cavity).


name: HS71L_HUMAN Heat shock 70 kDa protein 1-like (sprot)

description: A heat shock 70 kDa protein 1-like that is encoded in the genome of human.


name: STA13_HUMAN StAR-related lipid transfer protein 13 (sprot)

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


name: PPIL3_HUMAN Peptidyl-prolyl cis-trans isomerase-like 3 (sprot)

description: A peptidyl-prolyl cis-trans isomerase-like 3 that is encoded in the genome of human.


name: TAB1_HUMAN TGF-beta-activated kinase 1 and MAP3K7-binding protein 1 (sprot)

description: A TGF-beta-activated kinase 1 and MAP3K7-binding protein 1 that is encoded in the genome of human.


name: NDF6_HUMAN Neurogenic differentiation factor 6 (sprot)

description: A neurogenic differentiation factor 6 that is encoded in the genome of human.


name: FOXO6_HUMAN Forkhead box protein O6 (sprot)

description: A forkhead box protein O6 that is encoded in the genome of human.


name: GPT_HUMAN UDP-N-acetylglucosamine--dolichyl-phosphate N-acetylglucosaminephosphotransferase (sprot)

description: A UDP-N-acetylglucosamine--dolichyl-phosphate N-acetylglucosaminephosphotransferase that is encoded in the genome of human.


name: SCMC3_HUMAN Mitochondrial adenyl nucleotide antiporter SLC25A23 (sprot)

description: A mitochondrial adenyl nucleotide antiporter SLC25A23 that is encoded in the genome of human.


name: SENP8_HUMAN Sentrin-specific protease 8 (sprot)

description: A sentrin-specific protease 8 that is encoded in the genome of human.


name: TULP3_HUMAN Tubby-related protein 3 (sprot)

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


Conotruncal defect

description: A congenital malformation of the outflow tract of the heart. Conotruncal defects are thought to result from a disturbance of the outflow tract of the embryonic heart, and comprise truncus arteriosus, tetralogy of Fallot, interrupted aortic arch, transposition of the great arteries, and double outlet right ventricle.


name: DEC1_HUMAN Deleted in esophageal cancer 1 (sprot)

description: A deleted in esophageal cancer 1 that is encoded in the genome of human.


name: UIMC1_HUMAN BRCA1-A complex subunit RAP80 (sprot)

description: A BRCA1-A complex subunit RAP80 that is encoded in the genome of human.


RASH_HUMAN GTPase HRas (sprot)

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


leprosy

description: Leprosy is a chronic infectious disease affecting primarily the skin and peripheral nervous system.


name: PAX8_HUMAN Paired box protein Pax-8 (sprot)

description: A paired box protein Pax-8 that is encoded in the genome of human.


bone osteosarcoma

description: A usually aggressive malignant bone-forming mesenchymal neoplasm arising from the bone. It may arise de novo or from a pre-existing lesion of the bone. Pain and a palpable mass are the most frequent clinical sign and symptom. It may spread to other anatomic sites, particularly the lungs.


ITA7_HUMAN Integrin alpha-7 (sprot)

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


name: PIN4_HUMAN Peptidyl-prolyl cis-trans isomerase NIMA-interacting 4 (sprot)

description: A peptidyl-prolyl cis-trans isomerase NIMA-interacting 4 that is encoded in the genome of human.


facioscapulohumeral muscular dystrophy

description: An autosomal dominant disorder affecting the skeletal muscles of the face, scapula, and upper arm. Patients present with muscle weakness in these anatomic areas. The muscle weakness eventually spreads to other skeletal muscles as well.


renal osteodystrophy

description: Abnormalities of bone mineral metabolism associated with chronic kidney disease.


name: STML1_HUMAN Stomatin-like protein 1 (sprot)

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


desmosterol

A cholestanoid that is cholesta-5,24-diene substituted by a beta-hydroxy group at position 3. It is an intermediate metabolite obtained during the synthesis of cholesterol.


name: INSM1_HUMAN Insulinoma-associated protein 1 (sprot)

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


name: E41L3_HUMAN Band 4.1-like protein 3 (sprot)

description: A band 4.1-like protein 3 that is encoded in the genome of human.


name: EPHA7_HUMAN Ephrin type-A receptor 7 (sprot)

description: An ephrin type-A receptor 7 that is encoded in the genome of human.


ovarian mucinous adenocarcinoma

description: An invasive adenocarcinoma that arises from the ovary and is characterized by the presence of malignant epithelial cells that contain intracytoplasmic mucin. There is cellular atypia, increased layering of cells, complexity of glands, and papillary formations.


name: ADH4_HUMAN All-trans-retinol dehydrogenase [NAD(+)] ADH4 (sprot)

description: An all-trans-retinol dehydrogenase [NAD(+)] ADH4 that is encoded in the genome of human.


carcinoma ex pleomorphic adenoma

description: A carcinoma arising in a pre-existing pleomorphic adenoma. It most often occurs in the parotid gland and less often in the submandibular gland and minor salivary gland. Patients usually present with a history of a long-standing mass which recently had undergone rapid growth. The prognosis depends on the invasiveness of the malignant component. Patients with non-invasive or minimally invasive tumors usually have a good prognosis following surgical resection. Invasive tumors are usually aggressive and are associated with recurrences and metastases.


ITB6_HUMAN Integrin beta-6 (sprot)

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


NDNF_HUMAN Protein NDNF (sprot)

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


enfuvirtide

A synthetic 36-amino acid peptide consisting of  N-acetyltyrosyl, threonyl, seryl, leucyl, isoleucyl, histidyl, seryl, leucyl, isoleucyl, alpha-glutamyl, alpha-glutamyl, seryl, glutaminyl, asparaginyl, glutaminyl, glutaminyl, alpha-glutamyl, lysyl, asparaginyl, alpha-glutamyl, alpha-glutamyl, alpha-glutamyl, leucyl, leucyl, alpha-glutamyl, leucyl, alpha-aspartyl, lysyl, tryptophyl, alanyl, seryl, leucyl, tryptophyl, asparaginyl, tryptophyl, and phenylalaninamide residues joined in sequence. An HIV fusion inhibitor, it was the first of a novel class of antiretroviral drugs used in combination therapy for the treatment of HIV-1 infection. It interferes with entry of HIV into cells by binding to the gp41 sub-unit of the viral envelope glycoprotein, so inhibiting fusion of viral and cellular membranes.


peramivir

A member of the class of guanidines that is used (as its trihydrate) for the treatment of acute uncomplicated influenza in patients 18 years and older who have been symptomatic for no more than two days.


name: ASPP2_HUMAN Apoptosis-stimulating of p53 protein 2 (sprot)

description: An apoptosis-stimulating of p53 protein 2 that is encoded in the genome of human.


name: TA2R7_HUMAN Taste receptor type 2 member 7 (sprot)

description: A taste receptor type 2 member 7 that is encoded in the genome of human.


name: PASD1_HUMAN Circadian clock protein PASD1 (sprot)

description: A circadian clock protein PASD1 that is encoded in the genome of human.


name: CELF4_HUMAN CUGBP Elav-like family member 4 (sprot)

description: A CUGBP Elav-like family member 4 that is encoded in the genome of human.


ziprasidone

A piperazine compound having 1,2-benzothiazol-3-yl- and 2-(6-chloro-1,3-dihydro-2-oxindol-5-yl)ethyl substituents attached to the nitrogen atoms.


name: THA11_HUMAN THAP domain-containing protein 11 (sprot)

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


name: NP1L1_HUMAN Nucleosome assembly protein 1-like 1 (sprot)

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


Orthostatic tachycardia

description: An increase in heart rate with standing of 30 beats per minute or more.


name: PTH2_HUMAN Peptidyl-tRNA hydrolase 2, mitochondrial (sprot)

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


name: RGS3_HUMAN Regulator of G-protein signaling 3 (sprot)

description: A regulator of G-protein signaling 3 that is encoded in the genome of human.


name: GP161_HUMAN G-protein coupled receptor 161 (sprot)

description: A G-protein coupled receptor 161 that is encoded in the genome of human.


canine oral melanoma

description: A melanoma that affects the lip and/or oral cavity of a dog.


gastric intestinal metaplasia

description: Metaplastic changes in the lining of the upper digestive tract.


phosphatidylinositol (16:1/18:0)

A phosphatidylinositol 34:1 in which the acyl group at position 1 contains 16 carbons and 1 double bond while that at position 2 contains 18 carbons and no double bonds.


name: KLC1_HUMAN Kinesin light chain 1 (sprot)

description: A kinesin light chain 1 that is encoded in the genome of human.


name: C1QT6_HUMAN Complement C1q tumor necrosis factor-related protein 6 (sprot)

description: A complement C1q tumor necrosis factor-related protein 6 that is encoded in the genome of human.


name: IQEC1_HUMAN IQ motif and SEC7 domain-containing protein 1 (sprot)

description: An IQ motif and SEC7 domain-containing protein 1 that is encoded in the genome of human.


biapenem

A carbapenem antibiotic in which the azetidine and pyrroline rings carry 1-hydroxymethyl and pyrazolo[1,2-a][1,2,4]triazolium-6-ylthio substituents respectively.


name: DHI1L_HUMAN Hydroxysteroid 11-beta-dehydrogenase 1-like protein (sprot)

description: A hydroxysteroid 11-beta-dehydrogenase 1-like protein that is encoded in the genome of human.


perinatal asphyxia

description: A disorder caused by a lack of blood flow or gas exchange to or from the fetus in the period immediately before, during, or after the birth process.


name: EXOC8_HUMAN Exocyst complex component 8 (sprot)

description: An exocyst complex component 8 that is encoded in the genome of human.


name: EXOC4_HUMAN Exocyst complex component 4 (sprot)

description: An exocyst complex component 4 that is encoded in the genome of human.


name: CXA5_HUMAN Gap junction alpha-5 protein (sprot)

description: A gap junction alpha-5 protein that is encoded in the genome of human.


triflupromazine

A member of the class of phenothiazines that is 10H-phenothiazine having a trifluoromethyl subsitituent at the 2-position and a 3-(dimethylamino)propyl group at the N-10 position.


name: DKK2_HUMAN Dickkopf-related protein 2 (sprot)

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


name: SMIP8_HUMAN Sperm microtubule inner protein 8 (sprot)

description: A sperm microtubule inner protein 8 that is encoded in the genome of human.


head and neck carcinoma

description: A carcinoma that arises from the head and neck region. Representative examples include oral cavity squamous cell carcinoma, laryngeal squamous cell carcinoma, and salivary gland carcinoma.


allantoin

An imidazolidine-2,4-dione that is 5-aminohydantoin in which a carbamoyl group is attached to the exocyclic nitrogen.


Rothmund-Thomson syndrome

description: Rothmund-Thomson syndrome (RTS) is a genodermatosis presenting with a characteristic facial rash (poikiloderma) associated with short stature due to pre- and postnatal growth delay, sparse scalp hair, sparse or absent eyelashes and/or eyebrows, juvenile cataracts, skeletal abnormalities, radial ray defects, premature aging and a predisposition to certain cancers.


name: SF3B5_HUMAN Splicing factor 3B subunit 5 (sprot)

description: A splicing factor 3B subunit 5 that is encoded in the genome of human.


Reduced blood folate concentration

description: A reduced circulating concentration of folic acid, which is also known as vitamin B9.


name: FFAR1_HUMAN Free fatty acid receptor 1 (sprot)

description: A free fatty acid receptor 1 that is encoded in the genome of human.


peritoneum cancer

description: A malignant neoplasm involving the peritoneum


name: BRI3B_HUMAN BRI3-binding protein (sprot)

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


name: LTMD1_HUMAN LETM1 domain-containing protein 1 (sprot)

description: A LETM1 domain-containing protein 1 that is encoded in the genome of human.


name: MIRO1_HUMAN Mitochondrial Rho GTPase 1 (sprot)

description: A mitochondrial Rho GTPase 1 that is encoded in the genome of human.


name: BGH3_HUMAN Transforming growth factor-beta-induced protein ig-h3 (sprot)

description: A transforming growth factor-beta-induced protein ig-h3 that is encoded in the genome of human.


name: KCNJ5_HUMAN G protein-activated inward rectifier potassium channel 4 (sprot)

description: A G protein-activated inward rectifier potassium channel 4 that is encoded in the genome of human.


NKG7_HUMAN Protein NKG7 (sprot)

A protein NKG7 that is encoded in the genome of human.


MALONIC ACID

An alpha,omega-dicarboxylic acid in which the two carboxy groups are separated by a single methylene group.


name: G6PC1_HUMAN Glucose-6-phosphatase catalytic subunit 1 (sprot)

description: A glucose-6-phosphatase catalytic subunit 1 that is encoded in the genome of human.


Viremia

description: The presence of virus in the blood.


angle-closure glaucoma

description: The sudden increase of intraocular pressure, resulting in pain and an abrupt decrease in visual acuity.


intraepithelial neoplasia

description: A precancerous neoplastic process that affects the squamous, glandular, or transitional cell epithelium without evidence of invasion. According to the degree of nuclear atypia, number of mitotic figures, and presence of architectural distortion, it is classified as low grade (mild dysplasia) or high grade (moderate or severe dysplasia).


name: PAG15_HUMAN Lysosomal phospholipase A and acyltransferase (sprot)

description: A phospholipase A2 group XV that is encoded in the genome of human.


tandospirone

A dicarboximide that is (3aR,4S,7R,7aS)-hexahydro-1H-4,7-methanoisoindole-1,3(2H)-dione which is substituted by a 4-[4-(pyrimidin-2-yl)piperazin-1-yl]butyl group at position 2. It is a potent and selective 5-HT1A receptor partial agonist (Ki = 27 nM).


name: NRG2_HUMAN Pro-neuregulin-2, membrane-bound isoform (sprot)

description: A pro-neuregulin-2, membrane-bound isoform that is encoded in the genome of human.


name: TF2L1_HUMAN Transcription factor CP2-like protein 1 (sprot)

description: A transcription factor CP2-like protein 1 that is encoded in the genome of human.


name: BABA2_HUMAN BRISC and BRCA1-A complex member 2 (sprot)

description: A BRISC and BRCA1-A complex member 2 that is encoded in the genome of human.


lytic metastatic bone lesion

description: Dissolution of bone that particularly involves the removal or loss of calcium.


motor neuron disorder

description: A disease involving the motor neuron.


neostigmine

A  quaternary ammonium ion comprising an anilinium ion core having three methyl substituents on the aniline nitrogen, and a 3-[(dimethylcarbamoyl)oxy] substituent at position 3. It is a parasympathomimetic which acts as a reversible acetylcholinesterase inhibitor.


name: VP13B_HUMAN Intermembrane lipid transfer protein VPS13B (sprot)

description: An intermembrane lipid transfer protein VPS13B that is encoded in the genome of human.


obsessive-compulsive disorder

description: A disorder characterized by the presence of persistent and recurrent irrational thoughts (obsessions), resulting in marked anxiety and repetitive excessive behaviors (compulsions) as a way to try to decrease that anxiety.


premenopausal osteoporosis

description: Osteoporosis occurring in premenopausal women with existing fragility fractures, diseases or treatments known to cause bone loss or fractures.


hypersensitivity vasculitis

description: A small vessel vasculitis affecting the skin and/or internal organs. It is characterized by the presence of neutrophils and fibrinoid necrosis in small arteries and venules. It may be idiopathic or the result of drug treatment, infections, food intake, collagen vascular disorders, inflammatory bowel disease, or cancer.


follicular dendritic cell sarcoma

description: A neoplasm composed of spindle to ovoid cells which have morphologic and immunophenotypic characteristics of follicular dendritic cells. It affects lymph nodes and other sites including the tonsils, gastrointestinal tract, spleen, liver, soft tissues, skin, and oral cavity. It usually behaves as a low grade sarcoma. Treatment options include complete surgical removal of the tumor with or without adjuvant chemotherapy or radiotherapy. Recurrences have been reported in up to half of the cases.


GSX2_HUMAN GS homeobox 2 (sprot)

A GS homeobox 2 that is encoded in the genome of human.


name: HME1_HUMAN Homeobox protein engrailed-1 (sprot)

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


name: ALG1_HUMAN Chitobiosyldiphosphodolichol beta-mannosyltransferase (sprot)

description: A chitobiosyldiphosphodolichol beta-mannosyltransferase that is encoded in the genome of human.


name: BIG2_HUMAN Brefeldin A-inhibited guanine nucleotide-exchange protein 2 (sprot)

description: A brefeldin A-inhibited guanine nucleotide-exchange protein 2 that is encoded in the genome of human.


Generalized edema

description: Generalized abnormal accumulation of fluid beneath the skin, or in one or more cavities of the body.


name: 1433G_HUMAN 14-3-3 protein gamma (sprot)

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


name: DRP2_HUMAN Dystrophin-related protein 2 (sprot)

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


CYSTAMINE

An organic disulfide obtgained by oxidative dimerisation of cysteamine.


pilocytic astrocytoma

description: Pilocytic astrocytoma is a rare subtype of low-grade glioma of the central nervous system characterized by a well circumscribed, often cystic, brain tumor with a discrete mural nodule and long, hair-like projections that extend from the neoplastic astrocytes. Depending on the primary localization and the size of the tumor, patients can present with signs of raised intracranial pressure (headache, vomiting, papilledema), blurred vision, decreased visual acuity, ataxia and/or nystagmus, among others. It is most commonly located in the cerebellum, but occurrence in the hypothalamus, brain stem, optic chiasma, and hemispheres has also been reported.


nephronophthisis

description: Progressive tubulointerstitial injury, inherited in an autosomal recessive pattern, caused by mutations in genes involved in ciliary function, which may result in an end stage renal failure.


name: NUDC1_HUMAN NudC domain-containing protein 1 (sprot)

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


name: RP9_HUMAN Retinitis pigmentosa 9 protein (sprot)

description: A retinitis pigmentosa 9 protein that is encoded in the genome of human.


pyloric stenosis

description: Narrowing of the pyloric lumen caused either by hypertrophy of the surrounding muscles or tissue scarring due to a chronic peptic ulcer.


HIRA_HUMAN Protein HIRA (sprot)

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


name: CASR_HUMAN Extracellular calcium-sensing receptor (sprot)

description: An extracellular calcium-sensing receptor that is encoded in the genome of human.


phosphatidylcholine (16:1/16:1)

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


name: TNFL6_HUMAN Tumor necrosis factor ligand superfamily member 6 (sprot)

description: A tumor necrosis factor ligand superfamily member 6 that is encoded in the genome of human.


phosphatidylcholine (16:1/18:1)

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


hyperpigmentation of the skin

description: Darkening of the skin due to excessive melanin deposition. Causes include skin injuries, pregnancy, eczema, and Addison disease.


name: CDS2_HUMAN Phosphatidate cytidylyltransferase 2 (sprot)

description: A phosphatidate cytidylyltransferase 2 that is encoded in the genome of human.


tolmetin

A monocarboxylic acid that is (1-methylpyrrol-2-yl)acetic acid substituted at position 5 on the pyrrole ring by a 4-methylbenzoyl group. Used in the form of its sodium salt dihydrate as a nonselective nonsteroidal anti-inflammatory drug.


name: PP14C_HUMAN Protein phosphatase 1 regulatory subunit 14C (sprot)

description: A protein phosphatase 1 regulatory subunit 14C that is encoded in the genome of human.


name: PD1L2_HUMAN Programmed cell death 1 ligand 2 (sprot)

description: A programmed cell death 1 ligand 2 that is encoded in the genome of human.


name: ROBO1_HUMAN Roundabout homolog 1 (sprot)

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


name: BIG1_HUMAN Brefeldin A-inhibited guanine nucleotide-exchange protein 1 (sprot)

description: A brefeldin A-inhibited guanine nucleotide-exchange protein 1 that is encoded in the genome of human.


name: AGT1_HUMAN Alanine--glyoxylate aminotransferase (sprot)

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


radiodermatitis

description: A cutaneous inflammatory reaction occurring as a result of exposure to biologically effective levels of ionizing radiation.


duodenal adenocarcinoma

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


name: GTF2I_HUMAN General transcription factor II-I (sprot)

description: A general transcription factor II-I that is encoded in the genome of human.


A member of the class of benzamides obtained by formal condensation of the carboxy group of 3-{3-bromo-4-[(2,4-difluorobenzyl)oxy]-6-methyl-2-oxopyridin-1-yl}-4-methylbenzoic acid with the amino group of methylamine.


tumor of uterus

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


name: Neutropenia in presence of anti-neutropil antibodies

description: A type of neutropenia that is observed in the presence of granulocyte-specific antibodies.


labetalol

A member of the class of benzamides that is benzamide substituted by a hydroxy group at position 2 and by a 1-hydroxy-2-[(4-phenylbutan-2-yl)amino]ethyl group at position 5.


name: NSMA_HUMAN Sphingomyelin phosphodiesterase 2 (sprot)

description: A sphingomyelin phosphodiesterase 2 that is encoded in the genome of human.


name: DLX2_HUMAN Homeobox protein DLX-2 (sprot)

description: A homeobox protein DLX-2 that is encoded in the genome of human.


NAV1_HUMAN Neuron navigator 1 (sprot)

A neuron navigator 1 that is encoded in the genome of human.


name: BAG3_HUMAN BAG family molecular chaperone regulator 3 (sprot)

description: A BAG family molecular chaperone regulator 3 that is encoded in the genome of human.


beta-cryptoxanthin

A carotenol that exhibits antioxidant activity. It has been isolated from fruits such as papaya and oranges.


name: CLIP4_HUMAN CAP-Gly domain-containing linker protein 4 (sprot)

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


name: UBS3A_HUMAN Ubiquitin-associated and SH3 domain-containing protein A (sprot)

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


An ion of copper carrying a double positive charge.


alcoholic hepatitis

description: Acute hepatitis resulting from ingestion of alcohol.


name: GSTM2_HUMAN Glutathione S-transferase Mu 2 (sprot)

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


name: SYSM_HUMAN Serine--tRNA ligase, mitochondrial (sprot)

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


RELN_HUMAN Reelin (sprot)

A reelin that is encoded in the genome of human.


zopiclone

A pyrrolo[3,4-b]pyrazine compound having a 4-methylpiperazine-1-carboxyl group at the 5-position, a 5-chloropyridin-2-yl group at the 6-position and an oxo-substituent at the 7-position.


name: ORNT2_HUMAN Mitochondrial ornithine transporter 2 (sprot)

description: A mitochondrial ornithine transporter 2 that is encoded in the genome of human.


name: SLX4_HUMAN Structure-specific endonuclease subunit SLX4 (sprot)

description: A structure-specific endonuclease subunit SLX4 that is encoded in the genome of human.


name: BORG5_HUMAN Cdc42 effector protein 1 (sprot)

description: A Cdc42 effector protein 1 that is encoded in the genome of human.


name: AAK1_HUMAN AP2-associated protein kinase 1 (sprot)

description: An AAK1 gene translation product (human), isoforms h1 and h2.


name: TRAF5_HUMAN TNF receptor-associated factor 5 (sprot)

description: A TNF receptor-associated factor 5 that is encoded in the genome of human.


pure red-cell aplasia

description: A disease characterized by normocytic, normochromic anemia, low hematocrit, reticulocytopenia, and selective erythroid hypoplasia.


name: JMJD6_HUMAN Bifunctional arginine demethylase and lysyl-hydroxylase JMJD6 (sprot)

description: A bifunctional arginine demethylase and lysyl-hydroxylase JMJD6 that is encoded in the genome of human.


name: BCORL_HUMAN BCL-6 corepressor-like protein 1 (sprot)

description: A BCL-6 corepressor-like protein 1 that is encoded in the genome of human.


name: TAB3_HUMAN TGF-beta-activated kinase 1 and MAP3K7-binding protein 3 (sprot)

description: A TGF-beta-activated kinase 1 and MAP3K7-binding protein 3 that is a translation product of the TAB3 that is encoded in the genome of human.


kynurenic acid

A quinolinemonocarboxylic acid that is quinoline-2-carboxylic acid substituted by a hydroxy group at C-4.


name: GPER1_HUMAN G-protein coupled estrogen receptor 1 (sprot)

description: A G-protein coupled estrogen receptor 1 that is encoded in the genome of human.


name: BMR1B_HUMAN Bone morphogenetic protein receptor type-1B (sprot)

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


ASAH1_HUMAN Acid ceramidase (sprot)

An acid ceramidase that is encoded in the genome of human.


conjunctivitis

description: Inflammation of the conjunctiva of the eye.


dry age related macular degeneration

description: Dry age related macular degeneration is characterized by the presence of age-related deposits called drusen and atrophy.


melioidosis

description: An infection that is caused by Burkholderia pseudomallei, which is found in soil and water; symptoms vary widely, but most commonly include fever, cough, pneumonia, arthralgia, myalgia, and skin ulceration.


name: STK26_HUMAN Serine/threonine-protein kinase 26 (sprot)

description: A serine/threonine-protein kinase 26 that is encoded in the genome of human.


name: APBB3_HUMAN Amyloid-beta A4 precursor protein-binding family B member 3 (sprot)

description: An amyloid-beta A4 precursor protein-binding family B member 3 that is encoded in the genome of human.


urothelial hyperplasia

description: Hyperplasia of the transitional epithelium of the urinary tract. Morphologically it is subdivided into flat and papillary hyperplasia. -- 2003


name: ARAID_HUMAN All-trans retinoic acid-induced differentiation factor (sprot)

description: An apoptosis-related protein 3 that is encoded in the genome of human.


name: DAD1_HUMAN Dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit DAD1 (sprot)

description: A dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit DAD1 that is encoded in the genome of human.


name: GDIA_HUMAN Rab GDP dissociation inhibitor alpha (sprot)

description: A Rab GDP dissociation inhibitor alpha that is encoded in the genome of human.


name: CEAM6_HUMAN Carcinoembryonic antigen-related cell adhesion molecule 6 (sprot)

description: A carcinoembryonic antigen-related cell adhesion molecule 6 that is encoded in the genome of human.


name: autoimmune lymphoproliferative syndrome type 4

description: RAS-associated autoimmune leukoproliferative disease (RALD) is a rare genetic disorder characterized by monocytosis, autoimmune cytopenias, lymphoproliferation, hepatosplenomegaly, and hypergammaglobulinemia.


Simpson-Golabi-Behmel syndrome

description: Simpson-Golabi-Behmel syndrome is a rare X-linked multiple congenital anomalies syndrome, characterized by pre- and postnatal overgrowth, distinctive craniofacial features, variable congenital malformations, organomegaly and an increased tumor risk.


name: UBE3A_HUMAN Ubiquitin-protein ligase E3A (sprot)

description: A ubiquitin-protein ligase E3A that is encoded in the genome of human.


Coccidioidal meningitis

description: A type of fungal meningitis caused by dissemination of coccidioides to basilar meninges.


neurodevelopmental disorder

description: A behavioral and cognitive disorder with onset during the developmental period that involves impaired or aberrant development of intellectual, motor, or social functions.


adenomyosis

description: The growth of endometrial tissue inside the muscular wall of the uterine corpus. Clinical manifestations include pain, dysmenorrhea, and menorrhagia.


EXT1_HUMAN Exostosin-1 (sprot)

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


name: TRI34_HUMAN E3 ubiquitin-protein ligase TRIM34 (sprot)

description: An E3 ubiquitin-protein ligase TRIM34 that is encoded in the genome of human.


name: S11IP_HUMAN Serine/threonine-protein kinase 11-interacting protein (sprot)

description: A serine/threonine-protein kinase 11-interacting protein that is encoded in the genome of human.


name: GPR82_HUMAN Probable G-protein coupled receptor 82 (sprot)

description: A probable G-protein coupled receptor 82 that is encoded in the genome of human.


N-NITROSODIETHYLAMINE

A nitrosamine that is N-ethylethanamine substituted by a nitroso group at the N-atom.


name: NSMA2_HUMAN Sphingomyelin phosphodiesterase 3 (sprot)

description: A sphingomyelin phosphodiesterase 3 that is encoded in the genome of human.


periodic limb movement disorder

description: Excessive periodic leg movements during sleep that cause micro-arousals and interfere with the maintenance of sleep. This condition induces a state of relative sleep deprivation which manifests as excessive daytime hypersomnolence. The movements are characterized by repetitive contractions of the tibialis anterior muscle, extension of the toe, and intermittent flexion of the hip, knee and ankle. (Adams et al., Principles of Neurology, 6th ed, p387)


name: LCE3B_HUMAN Late cornified envelope protein 3B (sprot)

description: A late cornified envelope protein 3B that is encoded in the genome of human.


name: SSR2_HUMAN Somatostatin receptor type 2 (sprot)

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


alexidine

An amphipathic bisbiguanide with a structure consisting of two (2-ethylhexyl)guanide units linked by a hexamethylene bridge.


name: VDAC2_HUMAN Voltage-dependent anion-selective channel protein 2 (sprot)

description: A voltage-dependent anion-selective channel protein 2 that is encoded in the genome of human.


alum

An aluminium sulfate that contains no water of crystallisation.


name: PACS1_HUMAN Phosphofurin acidic cluster sorting protein 1 (sprot)

description: A phosphofurin acidic cluster sorting protein 1 that is encoded in the genome of human.


name: LYPA1_HUMAN Acyl-protein thioesterase 1 (sprot)

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


name: ARL5B_HUMAN ADP-ribosylation factor-like protein 5B (sprot)

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


name: PKHM2_HUMAN Pleckstrin homology domain-containing family M member 2 (sprot)

description: A pleckstrin homology domain-containing family M member 2 that is encoded in the genome of human.


name: ULK2_HUMAN Serine/threonine-protein kinase ULK2 (sprot)

description: A serine/threonine-protein kinase ULK2 that is encoded in the genome of human.


Kimura disease

description: Kimura disease is a benign and chronic inflammatory disorder of unknown etiology, occurring mainly in Asian countries (very rarely in Western countries) and predominantly affecting young men, that usually presents with a solitary or multiple non-tender subcutaneous masses in the head and neck region (in particular the preauricular and submandibular area) and/or generalized painless lymphadenopathy, often with salivary gland involvement. Characteristic laboratory findings include blood eosinophilia and markedly elevated serum immunoglobulin E (IgE) levels. It is often associated with autoinflammatory disorders (i.e. ulcerative colitis, bronchial asthma) and a co-existing renal disease.


name: STAP1_HUMAN Signal-transducing adaptor protein 1 (sprot)

description: A signal-transducing adaptor protein 1 that is encoded in the genome of human.


name: TEC_HUMAN Tyrosine-protein kinase Tec (sprot)

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


acquired Fanconi syndrome

description: Fanconi Syndrome caused by exposure to noxious agents.


name: ZBTB4_HUMAN Zinc finger and BTB domain-containing protein 4 (sprot)

description: A zinc finger and BTB domain-containing protein 4 that is encoded in the genome of human.


name: S39A4_HUMAN Zinc transporter ZIP4 (sprot)

description: A zinc transporter ZIP4 that is encoded in the genome of human.


name: CALRL_HUMAN Calcitonin gene-related peptide type 1 receptor (sprot)

description: A calcitonin gene-related peptide type 1 receptor that is encoded in the genome of human.


name: calcitonin gene-related peptide 1 (human)

description: A calcitonin gene-related peptide 1 that is encoded in the genome of human.


name: ERG1_HUMAN Squalene monooxygenase (sprot)

description: A squalene monooxygenase that is encoded in the genome of human.


name: SUCB2_HUMAN Succinate--CoA ligase [GDP-forming] subunit beta, mitochondrial (sprot)

description: A succinate--CoA ligase [GDP-forming] subunit beta, mitochondrial that is encoded in the genome of human.


name: GSTA3_HUMAN Glutathione S-transferase A3 (sprot)

description: A glutathione S-transferase A3 that is encoded in the genome of human.


name: HES7_HUMAN Transcription factor HES-7 (sprot)

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


PKP1_HUMAN Plakophilin-1 (sprot)

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


name: IFT43_HUMAN Intraflagellar transport protein 43 homolog (sprot)

description: An intraflagellar transport protein 43 homolog that is encoded in the genome of human.


name: TAOK2_HUMAN Serine/threonine-protein kinase TAO2 (sprot)

description: A serine/threonine-protein kinase TAO2 that is encoded in the genome of human.


name: NLS1_HUMAN Sodium-dependent lysophosphatidylcholine symporter 1 (sprot)

description: A sodium-dependent lysophosphatidylcholine symporter 1 that is encoded in the genome of human.


NONANOATE

A C9 straight-chain saturated fatty acid which occurs naturally as esters of the oil of pelargonium. Has antifungal properties, and is also used as a herbicide as well as in the preparation of plasticisers and lacquers.


name: BOK_HUMAN Bcl-2-related ovarian killer protein (sprot)

description: A Bcl-2-related ovarian killer protein that is encoded in the genome of human.


bopindolol

A methylindole that is 2-methyl-1H-indol-4-ol in which the hydrogen of the hydroxy group is replaced by a 2-(benzoyloxy)-3-(tert-butylamino)propyl group.


pulmonary hypertension

description: Increased pressure within the pulmonary circulation due to lung or heart disorder.


Generalized periodontitis

description: A generalized form of periodontitis.


name: DPM3_HUMAN Dolichol-phosphate mannosyltransferase subunit 3 (sprot)

description: A dolichol-phosphate mannosyltransferase subunit 3 that is encoded in the genome of human.


name: ERO1A_HUMAN ERO1-like protein alpha (sprot)

description: An ERO1-like protein alpha that is encoded in the genome of human.


name: ERO1B_HUMAN ERO1-like protein beta (sprot)

description: An ERO1-like protein beta that is encoded in the genome of human.


name: SMOC2_HUMAN SPARC-related modular calcium-binding protein 2 (sprot)

description: A SPARC-related modular calcium-binding protein 2 that is encoded in the genome of human.


TAZ_HUMAN Tafazzin (sprot)

A tafazzin that is encoded in the genome of human.


name: UBP39_HUMAN Ubiquitin carboxyl-terminal hydrolase 39 (sprot)

description: A ubiquitin carboxyl-terminal hydrolase 39 that is encoded in the genome of human.


name: GDF7_HUMAN Growth/differentiation factor 7 (sprot)

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


name: M3K4_HUMAN Mitogen-activated protein kinase kinase kinase 4 (sprot)

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


name: HYAS3_HUMAN Hyaluronan synthase 3 (sprot)

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


name: PRS6B_HUMAN 26S proteasome regulatory subunit 6B (sprot)

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


name: LRP4_HUMAN Low-density lipoprotein receptor-related protein 4 (sprot)

description: A low-density lipoprotein receptor-related protein 4 that is encoded in the genome of human.


name: ANM5_HUMAN Protein arginine N-methyltransferase 5 (sprot)

description: A protein arginine N-methyltransferase 5 that is encoded in the genome of human.


MSLN_HUMAN Mesothelin (sprot)

A mesothelin that is encoded in the genome of human.


FRIH_HUMAN Ferritin heavy chain (sprot)

A ferritin heavy chain that is encoded in the genome of human.


Keshan disease

description: A congestive cardiomyopathy caused by a combination of dietary deficiency of selenium and the presence of a mutated strain of Coxsackievirus.


CAN3_HUMAN Calpain-3 (sprot)

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


A member of the class of hydroxyindoles that is melatonin in which the hydrogen at position 2 of the indole ring has been replaced by a hydroxy group. A predominant hydroxylated melatonin metabolite in plants.


name: CTCF_HUMAN Transcriptional repressor CTCF (sprot)

description: A transcriptional repressor CTCF that is encoded in the genome of human.


name: BCAT2_HUMAN Branched-chain-amino-acid aminotransferase, mitochondrial (sprot)

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


bovine respiratory disease complex

description: A multifactorial disease of cattle resulting from complex interactions between environmental factors, host factors, and pathogens. The environmental factors act as stressors adversely affecting the immune system and other host defenses and enhancing transmission of infecting agents.


CERS4_HUMAN Ceramide synthase 4 (sprot)

A ceramide synthase 4 that is encoded in the genome of human.


name: MAR1_HUMAN Melanoma antigen recognized by T-cells 1 (sprot)

description: A melanoma antigen recognized by T-cells 1 that is encoded in the genome of human.


name: RAI3_HUMAN Retinoic acid-induced protein 3 (sprot)

description: A retinoic acid-induced protein 3 that is encoded in the genome of human.


name: I2BP2_HUMAN Interferon regulatory factor 2-binding protein 2 (sprot)

description: An interferon regulatory factor 2-binding protein 2 that is encoded in the genome of human.


name: RXRG_HUMAN Retinoic acid receptor RXR-gamma (sprot)

description: A retinoic acid receptor RXR-gamma that is encoded in the genome of human.


A member of the class of biindoles that is indirubin in which the keto group at position 3' has undergone condensation with hydroxylamine to form the corresponding oxime.


name: severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency

description: A form of SCID characterized by profound lymphopenia and very low immunoglobulin levels of all isotypes resulting in severe and recurrent opportunistic infections.


CCNH_HUMAN Cyclin-H (sprot)

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


pulmonary systemic sclerosis

description: Evidence of systemic sclerosis with lung involvement.


name: ECD_HUMAN Protein ecdysoneless homolog (sprot)

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


trans-zeatin

The trans-isomer of zeatin.


name: ZN282_HUMAN Zinc finger protein 282 (sprot)

description: A zinc finger protein 282 that is encoded in the genome of human.


name: THS7A_HUMAN Thrombospondin type-1 domain-containing protein 7A (sprot)

description: A thrombospondin type-1 domain-containing protein 7A that is encoded in the genome of human.


name: IFM2_HUMAN Interferon-induced transmembrane protein 2 (sprot)

description: An interferon-induced transmembrane protein that is a translation product of the IFITM2 gene in human.


PDYN_HUMAN Proenkephalin-B (sprot)

A proenkephalin-B that is encoded in the genome of human.


name: RHG24_HUMAN Rho GTPase-activating protein 24 (sprot)

description: A Rho GTPase-activating protein 24 that is encoded in the genome of human.


name: pediatric acute respiratory distress syndrome

description: Acute respiratory distress syndromet that occurs in pediatric patients and includes findings of new infiltrates (unilateral or bilateral) consistent with acute parenchymal disease, edema not fully explained by fluid overload or cardiac failure, and may present as new acute lung disease in setting of chronic lung disease and/or heart disease, and perinatal lung disease is excluded.


name: HEPS_HUMAN Serine protease hepsin (sprot)

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


glycine encephalopathy

description: Glycine encephalopathy (GE) is an inborn error of glycine metabolism characterized by accumulation of glycine in body fluids and tissues, including the brain, resulting in neurometabolic symptoms of variable severity.


name: carcinoma of liver and intrahepatic biliary tract

description: A carcinoma that arises from the hepatocytes or intrahepatic bile ducts. The main subtypes are hepatocellular carcinoma (hepatoma) and cholangiocarcinoma.


name: ZCHC3_HUMAN Zinc finger CCHC domain-containing protein 3 (sprot)

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


CTF1_HUMAN Cardiotrophin-1 (sprot)

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


name: CNGA3_HUMAN Cyclic nucleotide-gated channel alpha-3 (sprot)

description: A cyclic nucleotide-gated cation channel alpha-3 that is encoded in the genome of human.


name: OPSB_HUMAN Short-wave-sensitive opsin 1 (sprot)

description: A short-wave-sensitive opsin 1 that is encoded in the genome of human.


HIV enteropathy

description: A syndrome characterized by chronic, well-established diarrhea (greater than one month in duration) without an identified infectious cause after thorough evaluation, in an hiv-positive individual. It is thought to be due to direct or indirect effects of hiv on the enteric mucosa. hiv enteropathy is a diagnosis of exclusion and can be made only after other forms of diarrheal illness have been ruled out. (Harrison's Principles of Internal Medicine, 13th ed, pp1607-8; Haubrich et al., Bockus Gastroenterology, 5th ed, p1155)


vitamin B deficiency

description: A condition due to deficiency in any member of the vitamin B complex. These B vitamins are water-soluble and must be obtained from the diet because they are easily lost in the urine. Unlike the lipid-soluble vitamins, they cannot be stored in the body fat.


hydrocodone

A morphinane-like compound that is a semi-synthetic opioid synthesized from codeine.


name: OXSR1_HUMAN Serine/threonine-protein kinase OSR1 (sprot)

description: A serine/threonine-protein kinase OSR1 that is encoded in the genome of human.


name: KDM4A_HUMAN Lysine-specific demethylase 4A (sprot)

description: A lysine-specific demethylase 4A that is encoded in the genome of human.


chlorphenesin

Glycerol in which the hydrogen of one of the primary hydroxy groups is substituted by a 4-chlorophenyl group. It has antifungal and antibacterial properties, and is used for treatment of cutaneous and vaginal infections. Its 1-carbamate is used as a skeletal muscle relaxant for the treatment of painful muscle spasm.


name: CO4A2_HUMAN Collagen alpha-2(IV) chain (sprot)

description: A collagen alpha-2(IV) chain that is encoded in the genome of human.


name: MTEF1_HUMAN Transcription termination factor 1, mitochondrial (sprot)

description: A transcription termination factor 1, mitochondrial that is encoded in the genome of human.


name: MTEF3_HUMAN Transcription termination factor 3, mitochondrial (sprot)

description: A transcription termination factor 3, mitochondrial that is encoded in the genome of human.


ciglitazone

An aromatic ether that consists of 1,3-thiazolidine-2,4-dione with position 5 substituted by a 4-[(1-methylcyclohexyl)methoxy]benzyl group. A selective PPARgamma agonist.


name: ABCD3_HUMAN ATP-binding cassette sub-family D member 3 (sprot)

description: An ATP-binding cassette sub-family D member 3 that is encoded in the genome of human.


name: MK10_HUMAN Mitogen-activated protein kinase 10 (sprot)

description: A mitogen-activated protein kinase 10 that is encoded in the genome of human.


chronic pulmonary heart disease

description: Heart disease which occurs as a result of a primary pulmonary disease. Cor pulmonale most often manifests as right ventricular hypertrophy; it can also lead to right ventricular failure.


name: GULP1_HUMAN PTB domain-containing engulfment adapter protein 1 (sprot)

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


name: UB2G1_HUMAN Ubiquitin-conjugating enzyme E2 G1 (sprot)

description: A ubiquitin-conjugating enzyme E2 G1 that is encoded in the genome of human.


name: TNFL8_HUMAN Tumor necrosis factor ligand superfamily member 8 (sprot)

description: A tumor necrosis factor ligand superfamily member 8 that is encoded in the genome of human.


description: Glomerulonephritis characterized by mesangial proliferation, endocapillary proliferation, and glomerular capillary wall remodeling with immune complex deposits from classical complement pathway activation.


first-degree atrioventricular block

description: A disorder characterized by an electrocardiographic finding of prolonged PR interval for a specific population. For adults one common threshold is a PR interval greater than 0.20 seconds.


MCLN2_HUMAN Mucolipin-2 (sprot)

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


name: DTX2_HUMAN Probable E3 ubiquitin-protein ligase DTX2 (sprot)

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


VANG1_HUMAN Vang-like protein 1 (sprot)

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


name: DU4L2_HUMAN Double homeobox protein 4-like protein 2 (sprot)

description: A double homeobox protein 4-like protein 2 that is encoded in the genome of human.


urogenital tuberculosis

description: A general term for mycobacterium infections of any part of the urogenital system in either the male or the female.


name: ING5_HUMAN Inhibitor of growth protein 5 (sprot)

description: An inhibitor of growth protein 5 that is encoded in the genome of human.


intraocular retinoblastoma

description: Retinoblastoma restricted to local involvement.


name: SARNP_HUMAN SAP domain-containing ribonucleoprotein (sprot)

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


carpal tunnel syndrome

description: Entrapment of the median nerve in the wrist that is characterized by numbness, tingling and painful movement.


name: CNBP1_HUMAN Beta-catenin-interacting protein 1 (sprot)

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


name: RRAS_HUMAN Ras-related protein R-Ras (sprot)

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


MTSS2_HUMAN Protein MTSS 2 (sprot)

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


name: SLAF1_HUMAN Signaling lymphocytic activation molecule (sprot)

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


Caffey disease

description: Caffey disease is an osteosclerotic dysplasia characterized by acute inflammation with massive subperiosteal new bone formation usually involving the diaphyses of the long bones, as well as the ribs, mandible, scapulae, and clavicles. The disease is associated with fever, irritability pain and soft tissue swelling, with onset around the age of 2 months and resolving spontaneously by the age of 2 years. However, prenatal disease onset has also been described.


name: FBX11_HUMAN F-box only protein 11 (sprot)

description: An F-box only protein 11 that is encoded in the genome of human.


name: SETD4_HUMAN SET domain-containing protein 4 (sprot)

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


name: KAT8_HUMAN Histone acetyltransferase KAT8 (sprot)

description: A histone acetyltransferase KAT8 that is encoded in the genome of human.


name: PHS_HUMAN Pterin-4-alpha-carbinolamine dehydratase (sprot)

description: A pterin-4-alpha-carbinolamine dehydratase that is encoded in the genome of human.


name: RICTR_HUMAN Rapamycin-insensitive companion of mTOR (sprot)

description: A rapamycin-insensitive companion of mTOR that is encoded in the genome of human.


METHANE

A one-carbon compound in which the carbon is attached by single bonds to four hydrogen atoms. It is a colourless, odourless, non-toxic but flammable gas (b.p. -161degreeC).


name: SUMO4_HUMAN Small ubiquitin-related modifier 4 (sprot)

description: A small ubiquitin-related modifier 4 that is encoded in the genome of human.


name: RFX5_HUMAN DNA-binding protein RFX5 (sprot)

description: A DNA-binding protein RFX5 that is encoded in the genome of human.


bempedoic acid

An alpha,omega-dicarboxylic acid that is pentadecanedioic acid which is substituted by methyl groups groups at positions 2 and 14, and by a hydroxy group at position 8. It is a drug used for the treatment of high LDL cholesterol, which is sometimes referred to as 'bad cholesterol'.


name: ICT1_HUMAN Large ribosomal subunit protein mL62 (sprot)

description: An immature colon carcinoma transcript 1 protein that is encoded in the genome of human.


enalaprilat

Enalapril in which the ethyl ester group has been hydrolysed to the corresponding carboxylic acid. Enalaprilat is an angiotensin-converting enzyme (ACE) inhibitor and is used (often in the form of its prodrug, enalapril) in the treatment of hypertension and heart failure, for reduction of proteinuria and renal disease in patients with nephropathies, and for the prevention of stroke, myocardial infarction, and cardiac death in high-risk patients. Unlike enalapril, enalaprilat is not absorbed by mouth but is given by intravenous injection, usually as the dihydrate.


PGM1_HUMAN Phosphoglucomutase-1 (sprot)

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


clorgiline

An aromatic ether that is the 2,4-dichlorophenyl ether of 3-aminopropan-1-ol in which the nitrogen is substituted by a methyl group and a prop-1-yn-3-yl group. A monoamine oxidase inhibitor, it was formerly used as an antidepressant.


phosphatidylcholine (16:0/20:5)

A 1,2-diacyl-sn-glycero-3-phosphocholine in which the 1-acyl group contains 16 carbons and is fully saturated while the 2-acyl group contains 20 carbons and 5 double bonds.


familial hypertrophic cardiomyopathy

description: Hypertrophic cardiomyopathy caused by mutations in the genes encoding components of the sarcomere, in the absence of predisposing conditions.


name: PDCD2_HUMAN Programmed cell death protein 2 (sprot)

description: A programmed cell death protein 2 that is encoded in the genome of human.


name: SLAF7_HUMAN SLAM family member 7 (sprot)

description: A SLAM family member 7 that is encoded in the genome of human.


name: T4S1_HUMAN Transmembrane 4 L6 family member 1 (sprot)

description: A transmembrane 4 L6 family member 1 that is encoded in the genome of human.


aminobenzoic acid

A zwitterion obtained by transfer of a proton from the carboxy to the amino group of 4-aminobenzoic acid.


name: FNDC4_HUMAN Fibronectin type III domain-containing protein 4 (sprot)

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


m-chlorophenylpiperazine

A N-arylpiperazine that is piperazine carrying a 3-chlorophenyl substituent at position 1. It is a metabolite of the antidepressant drug trazodone.


carprofen

Propanoic acid in which one of the methylene hydrogens is substituted by a 6-chloro-9H-carbazol-2-yl group. A non-steroidal anti-inflammatory drug, it is no longer used in human medicine but is still used for treatment of arthritis in elderly dogs.


(-)-menthol

A p-menthan-3-ol which has (1R,2S,5R)-stereochemistry. It is the most common naturally occurring enantiomer.


name: BRAP_HUMAN BRCA1-associated protein (sprot)

description: A BRCA1-associated protein that is encoded in the genome of human.


retinal detachment

description: An eye emergency condition which may lead to blindness if left untreated. It is characterized by the separation of the inner retina layers from the underlying pigment epithelium. Causes include trauma, advanced diabetes mellitus, high myopia, and choroid tumors. Symptoms include sudden appearance of floaters, sudden light flushes, and blurred vision.


phosphatidylcholine (0:0/20:1)

A 2-acyl-sn-glycero-3-phosphocholine which carries a monounsaturated 20 carbon fatty acyl group at position 2. The position of unsaturation is unspecified.


name: RHG21_HUMAN Rho GTPase-activating protein 21 (sprot)

description: A Rho GTPase-activating protein 21 that is encoded in the genome of human.


name: RAPSN_HUMAN 43 kDa receptor-associated protein of the synapse (sprot)

description: A 43 kDa receptor-associated protein of the synapse that is encoded in the genome of human.


name: RIPK4_HUMAN Receptor-interacting serine/threonine-protein kinase 4 (sprot)

description: A receptor-interacting serine/threonine-protein kinase 4 that is encoded in the genome of human.


name: FOXF1_HUMAN Forkhead box protein F1 (sprot)

description: A forkhead box protein F1 that is encoded in the genome of human.


name: SNAT_HUMAN Serotonin N-acetyltransferase (sprot)

description: A serotonin N-acetyltransferase that is encoded in the genome of human.


SSX2_HUMAN Protein SSX2 (sprot)

A protein SSX2 that is encoded in the genome of human.


Warsaw breakage syndrome

description: A syndrome mainly characterized by severe growth retardation and microcephaly. It is a new form of cohesinopathy showing defects in sister chromatid cohesion and hypersensitivity to chemicals that induce replication stress, thus combining distinct cytogenetic features seen in Roberts syndrome and Fanconi anemia, respectively. It has material basis in homozygous or compound heterozygous mutation in the DDX11 gene on chromosome 12p11.


name: developmental and epileptic encephalopathy

description: A complex neurodevelopmental disorder characterized by a range of developmental delays and epileptic encephalopathy phenotypes. Seizure onset is variable and intellectual disability is variable in presence and severity.


name: MTUS1_HUMAN Microtubule-associated tumor suppressor 1 (sprot)

description: A mitochondrial tumor suppressor 1 that is encoded in the genome of human.


name: ZN639_HUMAN Zinc finger protein 639 (sprot)

description: A zinc finger protein 639 that is encoded in the genome of human.


phosphatidylinositol (16:0/18:1)

A phosphatidylinositol 34:1 in which the acyl group at position 1 contains 16 carbons and no double bonds while that at position 2 contains 18 carbons and 1 double bond.


CIAFTALAN

A tetrapyrrole fundamental parent that consists of four isoindole-type units, with the connecting carbon atoms in the macrocycle replaced by nitrogen.


Bowen disease of the skin

description: A form of squamous cell carcinoma in situ. It is a distinct clinicopathological entity and arises from the skin or the mucocutaneous junction. It affects predominantly white males in their 6-8th decades of life. Exposed and non-exposed skin sites are equally affected. UV damage and ingestion of inorganic arsenic may play a role in the development of the disease. On the skin surface, it presents as a single or multiple erythematous, scaly, keratotic patches or plaques. The clinical entity of erythroplasia of Queyrat is regarded as Bowen disease of the penis and it presents as an asymptomatic, red, circumscribed plaque. Morphologically, Bowen disease is characterized by the presence of hyperkeratosis, parakeratosis, dyskeratosis, and acanthosis. The keratotic squamous cells are atypical and display hyperchromatism and abnormal mitotic figures. The dermoepidermal basement membrane is intact. Complete surgical removal of the lesion may be curative.


name: ZAP70_HUMAN Tyrosine-protein kinase ZAP-70 (sprot)

description: A tyrosine-protein kinase ZAP-70 that is encoded in the genome of human.


name: LRP1B_HUMAN Low-density lipoprotein receptor-related protein 1B (sprot)

description: A low-density lipoprotein receptor-related protein 1B that is encoded in the genome of human.