name: FLT3L_HUMAN Fms-related tyrosine kinase 3 ligand (sprot)

description: An fms-related tyrosine kinase 3 ligand that is encoded in the genome of human.


name: XCR1_HUMAN Chemokine XC receptor 1 (sprot)

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


PYRAZOLE

The 1H-tautomer of pyrazole.


nephrosclerosis

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

description: Hardening of the kidney due to infiltration by fibrous connective tissue (fibrosis), usually caused by renovascular diseases or chronic hypertension. Nephrosclerosis leads to renal ischemia.


CALR_HUMAN Calreticulin (sprot)

A calreticulin that is encoded in the genome of human.


vancomycin

A complex glycopeptide from Streptomyces orientalis. It inhibits a specific step in the synthesis of the peptidoglycan layer in the Gram-positive bacteria Staphylococcus aureus and Clostridium difficile.


name: BMAL1_HUMAN Basic helix-loop-helix ARNT-like protein 1 (sprot)

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


name: NKX21_HUMAN Homeobox protein Nkx-2.1 (sprot)

description: A homeobox protein Nkx-2.1 that is encoded in the genome of human.


malignant mesothelioma

description: A malignant neoplasm of the pleura or peritoneum, arising from mesothelial cells. It is associated with exposure to asbestos.


FURIN_HUMAN Furin (sprot)

A furin that is encoded in the genome of human.


name: CSF2_HUMAN Granulocyte-macrophage colony-stimulating factor (sprot)

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


name: PCLI1_HUMAN PTB-containing, cubilin and LRP1-interacting protein (sprot)

description: A PTB-containing, cubilin and LRP1-interacting protein that is encoded in the genome of human.


name: CP11A_HUMAN Cholesterol side-chain cleavage enzyme, mitochondrial (sprot)

description: A cytochrome P450 11A1, mitochondrial that is encoded in the genome of human.


name: PRG2_HUMAN Bone marrow proteoglycan (sprot)

description: A bone marrow proteoglycan that is encoded in the genome of human.


cyclophosphamide

A phosphorodiamide that is 1,3,2-oxazaphosphinan-2-amine 2-oxide substituted by two 2-chloroethyl groups at the amino nitrogen atom.


name: PITX3_HUMAN Pituitary homeobox 3 (sprot)

description: A pituitary homeobox 3 that is encoded in the genome of human.


biochanin A

A member of the class of 7-hydroxyisoflavones that is 7-hydroxyisoflavone which is substituted by an additional hydroxy group at position 5 and a methoxy group at position 4'. A phytoestrogen, it has putative benefits in dietary cancer prophylaxis.


malignant colon neoplasm

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


name: NPT2B_HUMAN Sodium-dependent phosphate transport protein 2B (sprot)

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


ETS1_HUMAN Protein C-ets-1 (sprot)

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


rifampicin

A member of the class of rifamycins that is a a semisynthetic antibiotic derived from Amycolatopsis rifamycinica (previously known as Amycolatopsis mediterranei and Streptomyces mediterranei).


name: MLP3B_HUMAN Microtubule-associated proteins 1A/1B light chain 3B (sprot)

description: A microtubule-associated proteins 1A/1B light chain 3B that is encoded in the genome of human.


diabetes mellitus

description: A metabolic disorder characterized by abnormally high blood sugar levels due to diminished production of insulin or insulin resistance/desensitization.


kidney failure

description: An acute or chronic condition that is characterized by the inability of the kidneys to adequately filter the blood.


name: LITAF_HUMAN Lipopolysaccharide-induced tumor necrosis factor-alpha factor (sprot)

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


liver cancer

description: An epithelial or non-epithelial malignant neoplasm that arises from the liver. Representative examples include hepatocellular carcinoma, intrahepatic cholangiocarcinoma, lymphoma, and sarcoma.


name: CCR7_HUMAN C-C chemokine receptor type 7 (sprot)

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


ANGP1_HUMAN Angiopoietin-1 (sprot)

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


tretinoin

A retinoic acid in which all four exocyclic double bonds have E- (trans-) geometry.


malignant tumor of neck

description: A cancer that involves the neck.


ketamine

A member of the class of cyclohexanones in which one of the hydrogens at position 2 is substituted by a 2-chlorophenyl group, while the other is substituted by a methylamino group.


borderline personality disorder

description: A disorder characterized by an enduring pattern of unstable self-image and mood together with volatile interpersonal relationships, self-damaging impulsivity, recurrent suicidal threats or gestures and/or self-mutilating behavior.


name: SIK2_HUMAN Serine/threonine-protein kinase SIK2 (sprot)

description: A serine/threonine-protein kinase SIK2 that is encoded in the genome of human.


name: DPYL1_HUMAN Dihydropyrimidinase-related protein 1 (sprot)

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


name: DUS1_HUMAN Dual specificity protein phosphatase 1 (sprot)

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


name: E2AK2_HUMAN Interferon-induced, double-stranded RNA-activated protein kinase (sprot)

description: An interferon-induced, double-stranded RNA-activated protein kinase that is encoded in the genome of human.


name: ACOX1_HUMAN Peroxisomal acyl-coenzyme A oxidase 1 (sprot)

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


name: CLC11_HUMAN C-type lectin domain family 11 member A (sprot)

description: A C-type lectin domain family 11 member A that is encoded in the genome of human.


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


cystitis

description: Inflammation of the urinary bladder.


name: DNJB7_HUMAN DnaJ homolog subfamily B member 7 (sprot)

description: A DnaJ homolog subfamily B member 7 that is encoded in the genome of human.


furosemide

A  chlorobenzoic acid that is 4-chlorobenzoic acid substituted by a (furan-2-ylmethyl)amino and a sulfamoyl group at position 2 and 5 respectively. It is a diuretic used in the treatment of congestive heart failure.


squamous cell carcinoma

description: A carcinoma arising from squamous epithelial cells. Morphologically, it is characterized by the proliferation of atypical, often pleomorphic squamous cells. Squamous cell carcinomas are graded by the degree of cellular differentiation as well, moderately, or poorly differentiated. Well differentiated carcinomas are usually associated with keratin production and the presence of intercellular bridges between adjacent cells. Representative examples are lung squamous cell carcinoma, skin squamous cell carcinoma, and cervical squamous cell carcinoma.


carglumic acid

A urea that is the N-carbamoyl derivative of L-glutamic acid. An orphan drug used to treat a deficiency in the enzyme N-acetylglutamate synthase, which leads to acute hyperammonaemia.


name: CEBPB_HUMAN CCAAT/enhancer-binding protein beta (sprot)

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


ATP

An adenosine 5'-phosphate in which the 5'-phosphate is a triphosphate group. It is involved in the transportation of chemical energy during metabolic pathways.


breast cancer

description: A primary or metastatic malignant neoplasm involving the breast. The vast majority of cases are carcinomas arising from the breast parenchyma or the nipple. Malignant breast neoplasms occur more frequently in females than in males.


dermatitis

description: An inflammatory process affecting the skin. Signs include red rash, itching, and blister formation. Representative examples are contact dermatitis, atopic dermatitis, and seborrheic dermatitis.


name: BCL6_HUMAN B-cell lymphoma 6 protein (sprot)

description: A B-cell lymphoma 6 protein that is encoded in the genome of human.


estradiol benzoate

A benzoate ester resulting from the formal condensation of benzoic acid with the phenolic hydroxy group of 17beta-estradiol.


PRVA_HUMAN Parvalbumin alpha (sprot)

A parvalbumin alpha that is encoded in the genome of human.


name: MRTFB_HUMAN Myocardin-related transcription factor B (sprot)

description: A myocardin-related transcription factor B that is encoded in the genome of human.


haloperidol

A compound composed of a central piperidine structure with hydroxy and p-chlorophenyl substituents at position 4 and an N-linked p-fluorobutyrophenone moiety.


sickle cell anemia

description: Sickle cell anemias are chronic hemolytic diseases that may induce three types of acute accidents: severe anemia, severe bacterial infections, and ischemic vasoocclusive accidents (VOA) caused by sickle-shaped red blood cells obstructing small blood vessels and capillaries. Many diverse complications can occur.


name: PTH1R_HUMAN Parathyroid hormone/parathyroid hormone-related peptide receptor (sprot)

description: A parathyroid hormone/parathyroid hormone-related peptide receptor that is encoded in the genome of human.


name: MRTFA_HUMAN Myocardin-related transcription factor A (sprot)

description: A myocardin-related transcription factor A that is encoded in the genome of human.


ibrutinib

A member of the class of acrylamides that is (3R)-3-[4-amino-3-(4-phenoxyphenyl)pyrazolo[3,4-d]pyrimidin-1-yl]piperidine in which the piperidine nitrogen is replaced by an acryloyl group. A selective and covalent inhibitor of the enzyme Bruton's tyrosine kinase, it is used for treatment of B-cell malignancies.


name: CDK9_HUMAN Cyclin-dependent kinase 9 (sprot)

description: A cyclin-dependent kinase 9 that is encoded in the genome of human.


name: TFAM_HUMAN Transcription factor A, mitochondrial (sprot)

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


silicon dioxide

A silicon oxide made up of linear triatomic molecules in which a silicon atom is covalently bonded to two oxygens.


name: TRPV4_HUMAN Transient receptor potential cation channel subfamily V member 4 (sprot)

description: A transient receptor potential cation channel TRPV4 that is encoded in the genome of human.


name: TFCP2_HUMAN Alpha-globin transcription factor CP2 (sprot)

description: An alpha-globin transcription factor CP2 that is encoded in the genome of human.


CATL1_HUMAN Procathepsin L (sprot)

A procathepsin L that is encoded in the genome of human.


name: MAGI2_HUMAN Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 2 (sprot)

description: A membrane-associated guanylate kinase, WW and PDZ domain-containing protein 2 that is encoded in the genome of human.


name: SOCS1_HUMAN Suppressor of cytokine signaling 1 (sprot)

description: A suppressor of cytokine signaling 1 that is encoded in the genome of human.


esomeprazole

A 5-methoxy-2-{[(4-methoxy-3,5-dimethylpyridin-2-yl)methyl]sulfinyl}-1H-benzimidazole that has S configuration at the sulfur atom. An inhibitor of gastric acid secretion, it is used (generally as its sodium or magnesium salt) for the treatment of gastro-oesophageal reflux disease, dyspepsia, peptic ulcer disease, and Zollinger-Ellison syndrome.


name: B3GN2_HUMAN N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase 2 (sprot)

description: An N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase 2 that is encoded in the genome of human.


name: PGK1_HUMAN Phosphoglycerate kinase 1 (sprot)

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


ACTN2_HUMAN Alpha-actinin-2 (sprot)

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


parathyroid gland carcinoma

description: A very rare, slow-growing, clinically serious endocrine tumor that generally develops in mid-adulthood. PRTC presents as a palpable painless mass in the neck and causes severe hypercalcemia and related symptoms, non-specific gastrointestinal manifestations, as well as renal and bone complications related to primary hyperparathyroidism (nephrolithiasis, impaired renal function, osteoporosis, bone pain, and pathologic fractures, etc.). Some PRTCs are however non-functioning tumors.


name: BL1S6_HUMAN Biogenesis of lysosome-related organelles complex 1 subunit 6 (sprot)

description: A biogenesis of lysosome-related organelles complex 1 subunit 6 that is encoded in the genome of human.


name: MECP2_HUMAN Methyl-CpG-binding protein 2 (sprot)

description: A methyl-CpG-binding protein 2 that is encoded in the genome of human.


glibenclamide

An N-sulfonylurea that is acetohexamide in which the acetyl group is replaced by a 2-(5-chloro-2-methoxybenzamido)ethyl group.


CRP_HUMAN C-reactive protein (sprot)

A C-reactive protein that is encoded in the genome of human.


L-aspartic acid

The L-enantiomer of aspartic acid.


clotrimazole

A member of the class of imidazoles that is 1H-imidazole in which the hydrogen attached to a nitrogen is replaced by a monochlorotrityl group.


name: TAP2_HUMAN Antigen peptide transporter 2 (sprot)

description: An antigen peptide transporter 2 that is encoded in the genome of human.


name: PHC1_HUMAN Polyhomeotic-like protein 1 (sprot)

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


name: ATR_HUMAN Serine/threonine-protein kinase ATR (sprot)

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


fasudil

An isoquinoline substituted by a (1,4-diazepan-1-yl)sulfonyl group at position 5. It is a Rho-kinase inhibitor and its hydrochloride hydrate form is approved for the treatment of cerebral vasospasm and cerebral ischemia.


name: CD19_HUMAN B-lymphocyte antigen CD19 (sprot)

description: A CD19 molecule that is encoded in the genome of human.


name: GLP1R_HUMAN Glucagon-like peptide 1 receptor (sprot)

description: A glucagon-like peptide 1 receptor that is encoded in the genome of human.


zonisamide

A 1,2-benzoxazole compound having a sulfamoylmethyl substituent at the 3-position.


exfoliative dermatitis

description: The widespread involvement of the skin by a scaly, erythematous dermatitis occurring either as a secondary or reactive process to an underlying cutaneous disorder (e.g., atopic dermatitis, psoriasis, etc.), or as a primary or idiopathic disease. It is often associated with the loss of hair and nails, hyperkeratosis of the palms and soles, and pruritus. (From Dorland, 27th ed)


name: S1PR5_HUMAN Sphingosine 1-phosphate receptor 5 (sprot)

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


PCDH8_HUMAN Protocadherin-8 (sprot)

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


A monocarboxylic acid amide that is trans-[(1R)-1-aminoethyl]cyclohexanecarboxamide in which one of the nitrogens of the aminocarbony group is substituted by a pyridine nucleus. It has been shown to exhibit inhibitory activity against Rho-associated protein kinase (ROCK) enzyme.


name: RHOA_HUMAN Transforming protein RhoA (sprot)

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


name: PECA1_HUMAN Platelet endothelial cell adhesion molecule (sprot)

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


name: EAA2_HUMAN Excitatory amino acid transporter 2 (sprot)

description: An excitatory amino acid transporter 2 that is encoded in the genome of human.


name: BMPER_HUMAN BMP-binding endothelial regulator protein (sprot)

description: A BMP-binding endothelial regulator protein that is encoded in the genome of human.


PCD19_HUMAN Protocadherin-19 (sprot)

A protocadherin-19 that is encoded in the genome of human.


eribulin

A fully synthetic macrocyclic ketone analogue of marine sponge natural products. Inhibits growth phase of microtubules via tubulin-based antimitotic mechanism, which leads to G2/M cell-cycle block, disruption of mitotic spindles, and, ultimately, apoptotic cell death after prolonged mitotic blockage


Myokymia

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

description: Myokymia consists of involuntary, fine, continuous, undulating contractions that spread across the affected striated muscle.


name: TR11B_HUMAN Tumor necrosis factor receptor superfamily member 11B (sprot)

description: A tumor necrosis factor receptor superfamily member 11B that is encoded in the genome of human.


name: FGF13_HUMAN Fibroblast growth factor 13 (sprot)

description: A fibroblast growth factor 13 that is encoded in the genome of human.


IL15_HUMAN Interleukin-15 (sprot)

An interleukin-15 that is encoded in the genome of human.


name: GDF8_HUMAN Growth/differentiation factor 8 (sprot)

description: A growth/differentiation factor 8 that is encoded in the genome of human.


cypermethrin

A carboxylic ester resulting from the formal condensation between 3-(2,2-dichlorovinyl)-2,2-dimethylcyclopropanecarboxylic acid and the alcoholic hydroxy group of hydroxy(3-phenoxyphenyl)acetonitrile.


name: MK04_HUMAN Mitogen-activated protein kinase 4 (sprot)

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


P2RY6_HUMAN P2Y purinoceptor 6 (sprot)

A P2Y purinoceptor 6 that is encoded in the genome of human.


proliferative vitreoretinopathy

description: Vitreoretinal membrane shrinkage or contraction secondary to the proliferation of primarily retinal pigment epithelial cells and glial cells, particularly fibrous astrocytes, followed by membrane formation. The formation of fibrillar collagen and cellular proliferation appear to be the basis for the contractile properties of the epiretinal and vitreous membranes.


mercaptamine

An amine that consists of an ethane skeleton substituted with a thiol group at C-1 and an amino group at C-2.


name: TRAF2_HUMAN TNF receptor-associated factor 2 (sprot)

description: A TNF receptor-associated factor 2 that is encoded in the genome of human.


thrombotic microangiopathy

description: The syndromes of microangiopathic hemolytic anemia, thrombocytopenia, and variable signs of organ impairment, due to platelet aggregation in the microcirculation.


name: MPIP1_HUMAN M-phase inducer phosphatase 1 (sprot)

description: An M-phase inducer phosphatase 1 that is encoded in the genome of human.


simvastatin

A member of the class of hexahydronaphthalenes that is lovastatin in which the 2-methylbutyrate ester moiety has been replaced by a 2,2-dimethylbutyrate ester group. It is used as a cholesterol-lowering and anti-cardiovascular disease drug.


heart valve disorder

description: A disease involving the cardial valve.


name: NHLC1_HUMAN E3 ubiquitin-protein ligase NHLRC1 (sprot)

description: An E3 ubiquitin-protein ligase NHLRC1 that is encoded in the genome of human.


name: DVL2_HUMAN Segment polarity protein dishevelled homolog DVL-2 (sprot)

description: A segment polarity protein dishevelled homolog DVL-2 that is encoded in the genome of human.


name: RL10A_HUMAN Large ribosomal subunit protein uL1 (sprot)

description: A eukaryotic-type large ribosomal subunit protein uL1 that is encoded in the genome of human.


RAVUCONAZOLE

A member of the class of triazoles that is 1-butyl-1H-1,2,4-triazole in which the butyl group is substituted at positions 2, 2, and 3 by hydroxy, 2,4-difluorophenyl, and 4-(p-cyanophenyl)-1,3-thiazol-2-yl groups, respectively (the R,R stereoisomer). It exhibits antifungal activity by inhibition of 14alpha demethylase, an enzyme involved in sterol synthesis, resulting in lysis of the fungal cell wall and fungal cell death. (NCIO4)


Chagas disease

description: A parasitic infection caused by Trypanosoma cruzi. It is transmitted by insect bites. It is characterized by an acute and chronic phase; in the acute phase patients may have fever, malaise, and swelling at the site of the insect bite. In the chronic phase patients develop hepatosplenomegaly, lymphadenopathy, cardiomyopathy and arrhythmias.


name: TGFB1_HUMAN Transforming growth factor beta-1 proprotein (sprot)

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


name: RS27A_HUMAN Ubiquitin-ribosomal protein eS31 fusion protein (sprot)

description: A ubiquitin-ribosomal protein eS31 fusion protein that is encoded in the genome of human.


name: RN111_HUMAN E3 ubiquitin-protein ligase Arkadia (sprot)

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


name: CXL16_HUMAN C-X-C motif chemokine 16 (sprot)

description: A C-X-C motif chemokine 16 that is encoded in the genome of human.


name: HAVR2_HUMAN Hepatitis A virus cellular receptor 2 (sprot)

description: A hepatitis A virus cellular receptor 2 that is encoded in the genome of human.


name: BMX_HUMAN Cytoplasmic tyrosine-protein kinase BMX (sprot)

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


name: PAR1_HUMAN Proteinase-activated receptor 1 (sprot)

description: A proteinase-activated receptor 1 that is encoded in the genome of human.


name: EGF_HUMAN Pro-epidermal growth factor (sprot)

description: A pre-pro-epidermal growth factor that is encoded in the genome of human.


name: TYRO3_HUMAN Tyrosine-protein kinase receptor TYRO3 (sprot)

description: A tyrosine-protein kinase receptor TYRO3 that is encoded in the genome of human.


name: DKK1_HUMAN Dickkopf-related protein 1 (sprot)

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


SCF_HUMAN Kit ligand (sprot)

A kit ligand that is encoded in the genome of human.


name: NMNA1_HUMAN Nicotinamide/nicotinic acid mononucleotide adenylyltransferase 1 (sprot)

description: A nicotinamide/nicotinic acid mononucleotide adenylyltransferase 1 that is encoded in the genome of human.


sodium chloride

An inorganic chloride salt having sodium(1+) as the counterion.


NBN_HUMAN Nibrin (sprot)

A nibrin that is encoded in the genome of human.


name: BMI1_HUMAN Polycomb complex protein BMI-1 (sprot)

description: A Polycomb complex protein BMI-1 that is encoded in the genome of human.


name: MCL1_HUMAN Induced myeloid leukemia cell differentiation protein Mcl-1 (sprot)

description: An induced myeloid leukemia cell differentiation protein Mcl-1 that is encoded in the genome of human.


XANTHOHUMOL

A member of the class of chalcones that is trans-chalcone substituted by hydroxy groups at positions 4, 2' and 4', a methoxy group at position 6' and a prenyl group at position 3'. Isolated from Humulus lupulus, it induces apoptosis in human malignant glioblastoma cells.


name: TIMP2_HUMAN Metalloproteinase inhibitor 2 (sprot)

description: A metalloproteinase inhibitor 2 that is encoded in the genome of human.


luteolin

A tetrahydroxyflavone in which the four hydroxy groups are located at positions 3', 4', 5 and 7. It is thought to play an important role in the human body as an antioxidant, a free radical scavenger, an anti-inflammatory agent and an immune system modulator as well as being active against several cancers.


tongue squamous cell carcinoma

description: A squamous cell carcinoma that arises from the tongue. It usually presents as a painful ulcerated or nodular lesion. The size of the tumor and the status of the lymph nodes are the most important factors that determine prognosis.


name: CD38_HUMAN ADP-ribosyl cyclase/cyclic ADP-ribose hydrolase 1 (sprot)

description: An ADP-ribosyl cyclase/cyclic ADP-ribose hydrolase 1 that is encoded in the genome of human.


name: BMPR2_HUMAN Bone morphogenetic protein receptor type-2 (sprot)

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


Kaposi's sarcoma

description: A malignant neoplasm characterized by a vascular proliferation which usually contains blunt endothelial cells. Erythrocyte extravasation and hemosiderin deposition are frequently present. The most frequent site of involvement is the skin; however it may also occur internally. It generally develops in people with compromised immune systems including those with acquired immune deficiency syndrome (AIDS).


CASP1_HUMAN Caspase-1 (sprot)

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


complex regional pain syndrome

description: Complex regional pain syndrome (CRPS) is a rare neurologic disease painful progressive condition that corresponds to a group of disorders characterized by a disproportionate spontaneous or stimulus-induced pain, accompanied by a variably mixed myriad of autonomic and motor disorders including symptoms such as swelling, allodynia, skin blood supply and trophic disturbances. CRPS most often affects one of the arms, legs, hands, or feet and usually occurs after an injury or trauma to that limb.


name: ABCBB_HUMAN Bile salt export pump (sprot)

description: A bile salt export pump that is encoded in the genome of human.


cholesterol

A cholestanoid consisting of cholestane having a double bond at the 5,6-position as well as a 3beta-hydroxy group.


TPD52_HUMAN Tumor protein D52 (sprot)

A tumor protein D52 that is encoded in the genome of human.


KILIN_HUMAN Killin (sprot)

A killin that is encoded in the genome of human.


NUPR1_HUMAN Nuclear protein 1 (sprot)

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


TERT-BUTYL HYDROPEROXIDE

An alkyl hydroperoxide in which the alkyl group is tert-butyl. It is widely used in a variety of oxidation processes.


arthritic joint disease

description: An inflammatory process affecting a joint. Causes include infection, autoimmune processes, degenerative processes, and trauma. Signs and symptoms may include swelling around the affected joint and pain.


LMBRL_HUMAN Protein LMBR1L (sprot)

A protein LMBR1L that is encoded in the genome of human.


TFF2_HUMAN Trefoil factor 2 (sprot)

A trefoil factor 2 that is encoded in the genome of human.


EMODIN

A trihydroxyanthraquinone that is 9,10-anthraquinone which is substituted by hydroxy groups at positions 1, 3, and 8 and by a methyl group at position 6. It is present in the roots and barks of numerous plants (particularly rhubarb and buckthorn), moulds, and lichens. It is an active ingredient of various Chinese herbs.


name: LAMP2_HUMAN Lysosome-associated membrane glycoprotein 2 (sprot)

description: A lysosome-associated membrane glycoprotein 2 that is encoded in the genome of human.


reticulum cell sarcoma

description: An antiquated term that refers to a non-Hodgkin lymphoma composed of diffuse infiltrates of large, often anaplastic lymphocytes.


DIPHENYLUREA

A member of the class of phenylureas that is urea in which one of the hydrogens of each amino group is replaced by a phenyl group. It is present in coconut milk (Cocos nucifera).


name: FGFR1_HUMAN Fibroblast growth factor receptor 1 (sprot)

description: A fibroblast growth factor receptor 1 that is encoded in the genome of human.


azithromycin

A macrolide antibiotic useful for the treatment of bacterial infections.


esophageal adenocarcinoma

description: A malignant tumor with glandular differentiation arising predominantly from Barrett mucosa in the lower third of the esophagus. Rare examples of esophageal adenocarcinoma deriving from ectopic gastric mucosa in the upper esophagus have also been reported. Grossly, esophageal adenocarcinomas are similar to esophageal squamous cell carcinomas. Microscopically, adenocarcinomas arising in the setting of Barrett esophagus are typically papillary and/or tubular. The prognosis is poor.


name: LDHA_HUMAN L-lactate dehydrogenase A chain (sprot)

description: An L-lactate dehydrogenase A chain that is encoded in the genome of human.


name: SMC4_HUMAN Structural maintenance of chromosomes protein 4 (sprot)

description: A structural maintenance of chromosomes protein 4 that is encoded in the genome of human.


cannabidiol

An cannabinoid that is cyclohexene which is substituted by a methyl group at position 1, a 2,6-dihydroxy-4-pentylphenyl group at position 3, and a prop-1-en-2-yl group at position 4.


vascular dementia

description: A degenerative vascular disorder affecting the brain. It is caused by the blockage of the blood supply to the brain. It is manifested with decline of memory and cognitive functions.


non-Hodgkin lymphoma

description: Distinct from Hodgkin lymphoma both morphologically and biologically, non-Hodgkin lymphoma (NHL) is characterized by the absence of Reed-Sternberg cells, can occur at any age, and usually presents as a localized or generalized lymphadenopathy associated with fever and weight loss. The clinical course varies according to the morphologic type. NHL is clinically classified as indolent, aggressive, or having a variable clinical course. NHL can be of B-or T-/NK-cell lineage.


pilocarpine

The (+)-enantiomer of pilocarpine.


UBQL1_HUMAN Ubiquilin-1 (sprot)

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


octanoic acid

A straight-chain saturated fatty acid that is heptane in which one of the hydrogens of a terminal methyl group has been replaced by a carboxy group. Octanoic acid is also known as caprylic acid.


name: GATA4_HUMAN Transcription factor GATA-4 (sprot)

description: A transcription factor GATA-4 that is encoded in the genome of human.


SRF_HUMAN Serum response factor (sprot)

A serum response factor that is encoded in the genome of human.


name: E2F1_HUMAN Transcription factor E2F1 (sprot)

description: A transcription factor E2F1 that is encoded in the genome of human.


name: LMCD1_HUMAN LIM and cysteine-rich domains protein 1 (sprot)

description: A LIM and cysteine-rich domains protein 1 that is encoded in the genome of human.


HIS1_HUMAN Histatin-1 (sprot)

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


hyaluronic acid

A mucopolysaccharide composed of N-acetylglucosamine and glucuronic acid subunits. It is found in the connective tissues of vertebrates. A principal constituent of the extracellular matrix (ECM), it mediates the growth and metastasis of tumour cells.


dihydrotestosterone

A 17beta-hydroxy steroid that is testosterone in which the 4,5 double bond has been reduced to a single bond with alpha-configuration at position 5.


name: NAC1_HUMAN Sodium/calcium exchanger 1 (sprot)

description: A sodium/calcium exchanger 1 that is encoded in the genome of human.


valproate

A branched-chain saturated fatty acid anion that is the conjugate base of valproic acid.


name: SIR3_HUMAN NAD-dependent protein deacetylase sirtuin-3, mitochondrial (sprot)

description: An NAD-dependent protein deacetylase sirtuin-3, mitochondrial that is encoded in the genome of human.


name: GOLP3_HUMAN Golgi phosphoprotein 3 (sprot)

description: A Golgi phosphoprotein 3 that is encoded in the genome of human.


name: CCNE1_HUMAN G1/S-specific cyclin-E1 (sprot)

description: A G1/S-specific cyclin-E1 that is encoded in the genome of human.


AHI1_HUMAN Jouberin (sprot)

A jouberin that is encoded in the genome of human.


ICARIIN

A member of the class of flavonols that is kaempferol which is substituted at position 8 by a 3-methylbut-2-en-1-yl group and in which the hydroxy groups at positions 3, 4', and 7 have been converted to the corresponding 6-deoxy-alpha-L-mannopyranoside, methyl ether, and beta-D-glucopyranoside, respectively. A phoshphodiesterase-5 inhibitor, it is obtained from several species of plants in the genus Epimedium and is thought to be the main active ingredient of the Chinese herbal medicine Herba Epimedii (yinyanghuo).


name: NKX25_HUMAN Homeobox protein Nkx-2.5 (sprot)

description: A homeobox protein Nkx-2.5 that is encoded in the genome of human.


RBL2B_HUMAN Rab-like protein 2B (sprot)

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


name: IFT74_HUMAN Intraflagellar transport protein 74 homolog (sprot)

description: An intraflagellar transport protein 74 that is encoded in the genome of human.


desmopressin

A synthetic analogue of vasopressin in which 3-mercaptopropionic acid replaces the cysteine residue at position 1 and D-arginine replaces the residue at position 8. An antidiuretic, it increases urine concentration and decreases urine production, and is used (usually as the trihydrate of the acetic acid salt) to prevent and control excessive thirst, urination, and dehydration caused by injury, surgery, and certain medical conditions. It is also used in the diagnosis and treatment of cranial diabetes insipidus and in tests of renal function.


Bernard-Soulier syndrome

description: Bernard Soulier syndrome (BSS) is an inherited platelet disorder characterized by mild to severe bleeding tendency, macrothrombocytopenia and absent ristocetin-induced platelet agglutination.


name: KLF6_HUMAN Krueppel-like factor 6 (sprot)

description: A krueppel-like factor 6 that is encoded in the genome of human.


dronedarone

A member of the class of  1-benzofurans used for the treatment of  cardiac arrhythmias.


Abnormality of mitochondrial metabolism

description: A functional anomaly of mitochondria.


mesalazine

A monohydroxybenzoic acid that is salicylic acid substituted by an amino group at the 5-position.


CLD1_HUMAN Claudin-1 (sprot)

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


name: NOP53_HUMAN Ribosome biogenesis protein NOP53 (sprot)

description: A ribosome biogenesis protein NOP53 that is encoded in the genome of human.


APOL3_HUMAN Apolipoprotein L3 (sprot)

An apolipoprotein L3 that is encoded in the genome of human.


G6PD deficiency

description: An X-linked genetic condition caused by alterations in the gene G6PD that result in moderately to severely decreased activity levels of the enzyme glucose-6-phosphate dehydrogenase. Most individuals with G6PD deficiency are asymptomatic. Individuals with G6PD variants that cause G6PD deficiency are at risk for neonatal jaundice. These individuals are also at risk for acute hemolytic anemia in response to certain medication exposures, chemical exposures, infections, or consumption of fava beans.


ifosfamide

The simplest member of the class of  ifosfamides that is 1,3,2-oxazaphosphinan-2-amine 2-oxide substituted by 2-chloroethyl groups on both the nitrogen atoms respectively. It is a nitrogen mustard alkylating agent used in the treatment of advanced breast cancer.


Hypercalciuria

description: Abnormally high level of calcium in the urine.


trimethoprim

An aminopyrimidine antibiotic whose structure consists of pyrimidine 2,4-diamine and 1,2,3-trimethoxybenzene moieties linked by a methylene bridge.


cyproterone acetate

A steroid ester resulting from the formal condensation of the carboxy group of acetic acid with the 17-hydroxy group of cyproterone. It is an antiandrogenic drug which has recently been recognized to promote the occurrence and growth of intracranial meningiomas.


TSP1_HUMAN Thrombospondin-1 (sprot)

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


fibromyalgia

description: A chronic disorder of unknown etiology characterized by pain, stiffness, and tenderness in the muscles of neck, shoulders, back, hips, arms, and legs. Other signs and symptoms include headaches, fatigue, sleep disturbances, and painful menstruation.


colecalciferol

Any member of a group of fat-soluble hydroxy seco-steroids that exhibit biological activity against vitamin D deficiency. Vitamin D  can be obtained from sun exposure, food and supplements and is biologically inactive and converted into the biologically active calcitriol via double hydroxylation in the body.


colorectal neoplasm

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


name: STA5A_HUMAN Signal transducer and activator of transcription 5A (sprot)

description: A signal transducer and activator of transcription 5a that is encoded in the genome of human.


viral infectious disease

description: Any disease caused by a virus.


name: RABP1_HUMAN Cellular retinoic acid-binding protein 1 (sprot)

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


papaverine

A benzylisoquinoline alkaloid that is isoquinoline substituted by methoxy groups at positions 6 and 7 and a 3,4-dimethoxybenzyl group at position 1. It has been isolated from Papaver somniferum.


name: PDE4D_HUMAN 3',5'-cyclic-AMP phosphodiesterase 4D (sprot)

description: A 3',5'-cyclic-AMP phosphodiesterase 4D that is encoded in the genome of human.


CERS2_HUMAN Ceramide synthase 2 (sprot)

A ceramide synthase 2 that is encoded in the genome of human.


DSG1_HUMAN Desmoglein-1 (sprot)

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


name: ANGL2_HUMAN Angiopoietin-related protein 2 (sprot)

description: An angiopoietin-related protein 2 that is encoded in the genome of human.


aldehydo-D-galactose

An aldohexose that is the C-4 epimer of glucose.


name: RN139_HUMAN E3 ubiquitin-protein ligase RNF139 (sprot)

description: An E3 ubiquitin-protein ligase RNF139 that is encoded in the genome of human.


prednisolone

A glucocorticoid that is prednisone in which the oxo group at position 11 has been reduced to the corresponding beta-hydroxy group. It is a drug metabolite of prednisone.


gestational diabetes

description: Carbohydrate intolerance first diagnosed during pregnancy.


dacarbazine

A dacarbazine in which the N=N double bond adopts a trans-configuration.


name: CXCL2_HUMAN C-X-C motif chemokine 2 (sprot)

description: A C-X-C motif chemokine 2 that is encoded in the genome of human.


name: ARP19_HUMAN cAMP-regulated phosphoprotein 19 (sprot)

description: A cAMP-regulated phosphoprotein 19 that is encoded in the genome of human.


PROM1_HUMAN Prominin-1 (sprot)

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


NICOTINAMIDE RIBOSIDE

A pyridine nucleoside consisting of nicotinamide with a beta-D-ribofuranosyl moiety at the 1-position.


name: XRCC6_HUMAN X-ray repair cross-complementing protein 6 (sprot)

description: An X-ray repair cross-complementing protein 6 that is encoded in the genome of human.


LY 294002

A chromone substituted with a phenyl group at position 8 and a morpholine group at position 2.


name: IDE_HUMAN Insulin-degrading enzyme (sprot)

description: An insulin-degrading enzyme that is encoded in the genome of human.


PHENETHYLISOTHIOCYANATE

An isothiocyanate having a phenethyl group attached to the nitrogen. It is a naturally occurring compound found in some cruciferous vegetables (e.g. watercress) and is known to possess anticancer properties.


name: XIAP_HUMAN E3 ubiquitin-protein ligase XIAP (sprot)

description: A baculoviral IAP repeat-containing protein 4 that is encoded in the genome of human.


L-NAME

An alpha-amino acid ester that is the methyl ester of N(gamma)-nitro-L-arginine.


name: FOXP1_HUMAN Forkhead box protein P1 (sprot)

description: A forkhead box protein P1 that is encoded in the genome of human.


name: CBX3_HUMAN Chromobox protein homolog 3 (sprot)

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


name: F16P1_HUMAN Fructose-1,6-bisphosphatase 1 (sprot)

description: A fructose-1,6-bisphosphatase 1 that is encoded in the genome of human.


ITB8_HUMAN Integrin beta-8 (sprot)

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


name: UBP18_HUMAN Ubl carboxyl-terminal hydrolase 18 (sprot)

description: A Ubl carboxyl-terminal hydrolase 18 that is encoded in the genome of human.


FLAVOXATE HYDROCHLORIDE

The hydrochloride salt of flavoxate.


name: KIFA3_HUMAN Kinesin-associated protein 3 (sprot)

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


name: IL2RA_HUMAN Interleukin-2 receptor subunit alpha (sprot)

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


1,25-dihydroxyvitamin D3

A hydroxycalciol that is calcidiol in which the pro-S hydrogen of calcidiol is replaced by a hydroxy group. It is the active form of vitamin D3, produced fom calciol via hydoxylation in the liver to form calcidiol, which is subsequently oxidised in the kidney to give calcitriol.


name: TREM1_HUMAN Triggering receptor expressed on myeloid cells 1 (sprot)

description: A triggering receptor expressed on myeloid cells 1 that is encoded in the genome of human.


name: TBX6_HUMAN T-box transcription factor TBX6 (sprot)

description: A T-box transcription factor TBX6 that is encoded in the genome of human.


AGO3_HUMAN Protein argonaute-3 (sprot)

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


LEG4_HUMAN Galectin-4 (sprot)

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


name: TYOBP_HUMAN TYRO protein tyrosine kinase-binding protein (sprot)

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


ephedrine

A  phenethylamine alkaloid that is 2-phenylethanamine substituted by a methyl group at the amino nitrogen and a methyl and a hydroxy group at position 2 and 1 respectively.


quinapril

A member of the class of isoquinolines that is (3S)-2-L-alanyl-1,2,3,4-tetrahydroisoquinoline-3-carboxylic acid in which the alpha-amino group of the alanyl residue has been substituted by a 1-ethoxycarbonyl-4-phenylbutan-2-yl group (the all-S isomer). A prodrug for quinaprilat (by hydrolysis of the ethyl ester to the corresponding carboxylic acid), it is used as an angiotensin-converting enzyme inhibitor (ACE inhibitor) used (generally as the hydrochloride salt) for the treatment of hypertension and congestive heart failure.


Albuminuria

description: Increased concentration of albumin in the urine.


noscapine

A benzylisoquinoline alkaloid that is 1,2,3,4-tetrahydroisoquinoline which is substituted by a 4,5-dimethoxy-3-oxo-1,3-dihydro-2-benzofuran-1-yl group at position 1, a methylenedioxy group at positions 6-7 and a methoxy group at position 8. Obtained from plants of the Papaveraceae family, it lacks significant painkilling properties and is primarily used for its antitussive (cough-suppressing) effects.


refractory malignant neoplasm

description: A malignant neoplasm that does not respond to treatment.


name: ARG28_HUMAN Rho guanine nucleotide exchange factor 28 (sprot)

description: A Rho guanine nucleotide exchange factor 28 that is encoded in the genome of human.


name: CD33_HUMAN Myeloid cell surface antigen CD33 (sprot)

description: A CD33 molecule that is encoded in the genome of human.


name: MAD4_HUMAN Max dimerization protein 4 (sprot)

description: A max dimerization protein 4 that is encoded in the genome of human.


name: SETB1_HUMAN Histone-lysine N-methyltransferase SETDB1 (sprot)

description: A histone-lysine N-methyltransferase SETDB1 that is encoded in the genome of human.


Growth delay

description: A deficiency or slowing down of growth pre- and postnatally.


NOL6_HUMAN Nucleolar protein 6 (sprot)

A nucleolar protein 6 that is encoded in the genome of human.


name: SCAR5_HUMAN Scavenger receptor class A member 5 (sprot)

description: A scavenger receptor class A member 5 that is encoded in the genome of human.


SALL2_HUMAN Sal-like protein 2 (sprot)

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


cimetidine

A member of the class of  guanidines that consists of guanidine carrying a methyl substituent at position 1, a cyano group at position 2 and a 2-{[(5-methyl-1H-imidazol-4-yl)methyl]sulfanyl}ethyl group at position 3. It is a  H2-receptor antagonist that inhibits the production of acid in stomach.


name: S22A3_HUMAN Solute carrier family 22 member 3 (sprot)

description: A solute carrier family 22 member 3 that is encoded in the genome of human.


beclometasone dipropionate

A steroid ester comprising beclomethasone having propionyl groups at the 17- and 21-positions.


name: P53_HUMAN Cellular tumor antigen p53 (sprot)

description: A cellular tumor antigen p53 that is encoded in the genome of human.


name: SIR6_HUMAN NAD-dependent protein deacylase sirtuin-6 (sprot)

description: An NAD-dependent protein deacylase sirtuin-6 that is encoded in the genome of human.


remdesivir

A carboxylic ester resulting from the formal condensation of the carboxy group of N-[(S)-{[(2R,3S,4R,5R)-5-(4-aminopyrrolo[2,1-f][1,2,4]triazin-7-yl)-5-cyano-3,4-dihydroxytetrahydrofuran-2-yl]methoxy}(phenoxy)phosphoryl]-L-alanine with the hydroxy group of 2-ethylbutan-1-ol. A broad-spectrum antiviral prodrug with potent in vitro antiviral activity against a diverse panel of RNA viruses such as Ebola virus, MERS-CoV and SARS-CoV. It is currently in Phase III clinical trials for the treatment of Covid-19 in adults.


name: FADS1_HUMAN Acyl-CoA (8-3)-desaturase (sprot)

description: An acyl-CoA (8-3)-desaturase that is encoded in the genome of human.


silibinin

A flavonolignan isolated from milk thistle, Silybum marianum, that has been shown to exhibit antioxidant and antineoplastic activities.


apigenin

A trihydroxyflavone that is flavone substituted by hydroxy groups at positions 4', 5 and 7.  It induces autophagy in leukaemia cells.


leukemia

description: A malignant (clonal) hematologic disorder, involving hematopoietic stem cells and characterized by the presence of primitive or atypical myeloid or lymphoid cells in the bone marrow and the blood. Leukemias are classified as acute or chronic based on the degree of cellular differentiation and the predominant cell type present. Leukemia is usually associated with anemia, fever, hemorrhagic episodes, and splenomegaly. Common leukemias include acute myeloid leukemia, chronic myelogenous leukemia, acute lymphoblastic or precursor lymphoblastic leukemia, and chronic lymphocytic leukemia. Treatment is vital to patient survival; untreated, the natural course of acute leukemias is normally measured in weeks or months, while that of chronic leukemias is more often measured in months or years.


retinal disorder

description: Any disease or disorder of the retina.


A 3',5'-cyclic purine nucleotide that is 3',5'-cyclic AMP bearing an additional bromo substituent at position 8 on the adenine ring. An activator of cyclic AMP-dependent protein kinase, but resistant to degradation by cyclic AMP phosphodiesterase.


name: MMP1_HUMAN Interstitial collagenase (sprot)

description: An interstitial collagenase that is encoded in the genome of human.


pioglitazone

A member of the class of thiazolidenediones that is 1,3-thiazolidine-2,4-dione substituted by a benzyl group at position 5 which in turn is substituted by a 2-(5-ethylpyridin-2-yl)ethoxy group at position 4 of the phenyl ring. It exhibits hypoglycemic activity.


cystic fibrosis

description: Cystic fibrosis (CF) is a genetic disorder characterized by the production of sweat with a high salt content and mucus secretions with an abnormal viscosity.


cancer

description: A tumor composed of atypical neoplastic, often pleomorphic cells that invade other tissues. Malignant neoplasms often metastasize to distant anatomic sites and may recur after excision. The most common malignant neoplasms are carcinomas (adenocarcinomas or squamous cell carcinomas), Hodgkin and non-Hodgkin lymphomas, leukemias, melanomas, and sarcomas.


phenylthiocarbamide

A member of the class of thioureas that is thiourea in which one of the hydrogens is replaced by a phenyl group. Depending on their genetic makeup, humans find it either very bitter-tasting or tasteless. This unusual property resulted in N-phenylthiourea being used in paternity testing prior to the advent of DNA testing.


nystatin

A polyene macrolide antibiotic; part of the nystatin complex produced by several Streptomyces species. It is an antifungal antibiotic used for the treatment of topical fungal infections caused by a broad spectrum of fungal pathogens comprising yeast-like and filamentous species.


name: URP2_HUMAN Fermitin family homolog 3 (sprot)

description: A fermitin family homolog 3 that is encoded in the genome of human.


Lewy body dementia

description: A progressive form of dementia characterized by the presence of protein deposits called Lewy bodies in the midbrain and cerebral cortex, and loss of cholinergic and dopaminergic neurons. The signs and symptoms overlap with Alzheimer and Parkinson disease.


OXAMATE

A dicarboxylic acid monoamide resulting from the formal condensation of one of the carboxy groups of oxalic acid with ammonia.


tryptamine

An aminoalkylindole consisting of indole having a 2-aminoethyl group at the 3-position.


CIP2A_HUMAN Protein CIP2A (sprot)

A protein CIP2A that is encoded in the genome of human.


Severe infection

description: A type of infection that is regarded as a sign of a pathological susceptibility to infection because of unusual severity or intensity of the infection.


rhabdoid tumor

description: An aggressive malignant embryonal neoplasm usually occurring during childhood. It is characterized by the presence of large cells with abundant cytoplasm, large eccentric nucleus, and a prominent nucleolus and it is associated with abnormalities of chromosome 22. It can arise from the central nervous system, kidney, and the soft tissues. The prognosis is poor.


NRP2_HUMAN Neuropilin-2 (sprot)

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


navitoclax

A N-sulfonylcarboxamide resulting from the formal condensation of the carboxy group of 4-{4-[(4'-chloro-4,4-dimethyl-3,4,5,6-tetrahydro[biphenyl]-2-yl)methyl]piperazin-1-yl}benzoic acid with the amino group of 4-{[(2R)-4-(morpholin-4-yl)-1-(phenylsulfanyl)butan-2-yl]amino}-3-[(trifluoromethyl)sulfonyl]benzenesulfonamide. It is a BH3-mimetic drug which targets the anti-apoptotic B-cell lymphoma-2 (BCL-2) family proteins, including BCL-2, BCL-xL, and BCL-w, and induces apoptosis in cancer cells. Currently under clinical investigation as treatment for solid tumors and hematologic malignancies.


Cardiomyocyte hypertrophy

description: An increase in cell size, enhanced protein synthesis, and heightened organization of the sarcomere within cardiac myocytes.


metoprolol

A propanolamine that is 1-(propan-2-ylamino)propan-2-ol substituted by a  4-(2-methoxyethyl)phenoxy group at position 1.


pheochromocytoma

description: Pheochromocytomas (also known as chromaffin tumors) produce, store, and secrete catecholamines. Pheochromocytomas usually originate from the adrenal medulla but may also develop from chromaffin cells in or about sympathetic ganglia. A common symptom of pheochromocytoma is hypertension owing to release of catecholamines.


name: ARH38_HUMAN Rho guanine nucleotide exchange factor 38 (sprot)

description: A Rho guanine nucleotide exchange factor 38 that is encoded in the genome of human.


name: DOCK9_HUMAN Dedicator of cytokinesis protein 9 (sprot)

description: A dedicator of cytokinesis protein 9 that is encoded in the genome of human.


Hailey-Hailey disease

description: Benign chronic familial pemphigus of Hailey-Hailey is characterized by rhagades mostly located in the armpits, inguinal and perineal folds (scrotum, vulva).


A triazolopyrimidine that consists of 3,6-dihydro-7H-[1,2,3]triazolo[4,5-d]pyrimidine bearing amino and oxo substituents at positions 5 and 7 respectively.


name: TWST1_HUMAN Twist-related protein 1 (sprot)

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


COLI_HUMAN Pro-opiomelanocortin (sprot)

A pro-opiomelanocortin that is encoded in the genome of human.


trimipramine

A dibenzoazepine that is 10,11-dihydro-5H-dibenzo[b,f]azepine substituted by a 3-(dimethylamino)-2-methylpropyl group at the nitrogen atom. It is used as an antidepressant.


CALU_HUMAN Calumenin (sprot)

A calumenin that is encoded in the genome of human.


lornoxicam

A thienothiazine-derived monocarboxylic acid amide obtained by formal condensation of the carboxy group of 6-chloro-4-hydroxy-2-methylthieno[2,3-e][1,2]thiazine-3-carboxylic acid 1,1-dioxide with the amino group of 2-aminopyridine. Used for the treatment of pain, primarily resulting from inflammatory diseases of the joints, osteoarthritis, surgery, sciatica and other inflammations.


name: ARL1_HUMAN ADP-ribosylation factor-like protein 1 (sprot)

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


SYT1_HUMAN Synaptotagmin-1 (sprot)

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


LCL161 is a small molecule inhibitor of IAPs that has potent antitumour activity in a range of solid tumours. In HCC, response to LCL161 therapy has shown to be mediated by Bcl-2 expression.


esophageal squamous cell carcinoma

description: Esophageal squamous cell carcinoma (ESCC) is a type of esophageal carcinoma (EC) that can affect any part of the esophagus, but is usually located in the upper or middle third.


IL3_HUMAN Interleukin-3 (sprot)

An interleukin-3 that is encoded in the genome of human.


Vitamin E

An alpha-tocopherol that has R,R,R configuration. The naturally occurring stereoisomer of alpha-tocopherol, it is found particularly in sunflower and olive oils.


carbamazepine

A dibenzoazepine that is 5H-dibenzo[b,f]azepine carrying a carbamoyl substituent at the azepine nitrogen, used as an anticonvulsant.


Hypsarrhythmia

description: Hypsarrhythmia is abnormal interictal high amplitude waves and a background of irregular spikes. There is continuous (during wakefulness), high-amplitude (>200 Hz), generalized polymorphic slowing with no organized background and multifocal spikes demonstrated by electroencephalography (EEG).


ASTAXANTHIN

A carotenone that consists of beta,beta-carotene-4,4'-dione bearing two hydroxy substituents at positions 3 and 3' (the 3S,3'S diastereomer). A carotenoid pigment found mainly in animals (crustaceans, echinoderms) but also occurring in plants. It can occur free (as a red pigment), as an ester, or as a blue, brown or green chromoprotein.


name: CXXC1_HUMAN CXXC-type zinc finger protein 1 (sprot)

description: A CXXC-type zinc finger protein 1 that is encoded in the genome of human.


bisphenol A

A bisphenol that is 4,4'-methanediyldiphenol in which the methylene hydrogens are replaced by two methyl groups.


hypothyroidism

description: Abnormally low levels of thyroid hormone.


cannabidiolic acid

A dihydroxybenzoic acid that is olivetolic acid in which the hydrogen at position 3 is substituted by a 3-p-mentha-1,8-dien-3-yl (limonene) group.


name: COX2_HUMAN Cytochrome c oxidase subunit 2 (sprot)

description: A cytochrome c oxidase subunit 2 that is encoded in the genome of human.


sodium nitroprusside

An organic sodium salt that is the disodium salt of nitroprusside.


hydroxychloroquine

An aminoquinoline that is chloroquine in which one of the N-ethyl groups is hydroxylated at position 2. An antimalarial with properties similar to chloroquine that acts against erythrocytic forms of malarial parasites, it is mainly used as the sulfate salt for the treatment of lupus erythematosus, rheumatoid arthritis, and light-sensitive skin eruptions.


synovitis

description: Inflammation of a synovial membrane.


phosphatidylcholine (20:4/20:4)

A phosphatidylcholine 40:8 in which the fatty acyl groups at positions 1 and 2 are both specified as C20:4.


L-cysteine

An optically active form of cysteine having L-configuration.


bacterial arthritis

description: The inflammation of one or more joints caused by a bacterial infection within the joint space. Symptoms include pain, stiffness, and decreased range of motion in the affected joint.


name: THG1_HUMAN Probable tRNA(His) guanylyltransferase (sprot)

description: A probable tRNA(His) guanylyltransferase that is encoded in the genome of human.


NOCODAZOLE

A member of the class of benzimidazoles that is benzimidalole which is substituted at position 2 by a (methoxycarbonyl)amino group and at position 5 by a 2-thienoyl group. It is an antineoplastic agent that exerts its effect by depolymerising microtubules.


name: VGFR2_HUMAN Vascular endothelial growth factor receptor 2 (sprot)

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


name: CD14_HUMAN Monocyte differentiation antigen CD14 (sprot)

description: A CD14 molecule that is encoded in the genome of human.


name: EST1_HUMAN Liver carboxylesterase 1 (sprot)

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


name: FLII_HUMAN Protein flightless-1 homolog (sprot)

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


patchouli alcohol

A carbotricyclic compound and sesquiterpenoid tertiary alcohol that is tricyclo[5.3.1.0(3,8)]undecan-3-ol which is substituted at positions 2, 2, 6 and 8 by methyl groups (the 1R,3R,6S,7S,8S-diastereoisomer).


NG,NG-dimethyl-L-arginine

A L-arginine derivative  having two methyl groups both attached to the primary amino moiety of the guanidino group.


Left ventricular diastolic dysfunction

description: Abnormal function of the left ventricule during left ventricular relaxation and filling.


B2MG_HUMAN Beta-2-microglobulin (sprot)

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


chronic pancreatitis

description: A chronic inflammatory process causing damage and fibrosis of the pancreatic parenchyma. Signs and symptoms include abdominal pain, malabsorption and diabetes mellitus.


name: BIRC5_HUMAN Baculoviral IAP repeat-containing protein 5 (sprot)

description: A baculoviral IAP repeat-containing protein 5 that is encoded in the genome of human.


sildenafil

A pyrazolo[4,3-d]pyrimidin-7-one having a methyl substituent at the 1-position, a propyl substituent at the 3-position and a 2-ethoxy-5-[(4-methylpiperazin-1-yl)sulfonyl]phenyl group at the 5-position.


Hypertonia

description: A condition in which there is increased muscle tone so that arms or legs, for example, are stiff and difficult to move.


PALS2_HUMAN Protein PALS2 (sprot)

A protein PALS2 that is encoded in the genome of human.


name: RRP44_HUMAN Exosome complex exonuclease RRP44 (sprot)

description: An exosome complex exonuclease RRP44 that is encoded in the genome of human.


phenobarbital

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


name: RAD51_HUMAN DNA repair protein RAD51 homolog 1 (sprot)

description: A DNA repair protein RAD51 homolog 1 that is encoded in the genome of human.


hesperetin

A trihydroxyflavanone having the three hydroxy gropus located at the 3'-, 5- and 7-positions and an additional methoxy substituent at the 4'-position.


OSTCN_HUMAN Osteocalcin (sprot)

An osteocalcin that is encoded in the genome of human.


melphalan

A phenylalanine derivative comprising L-phenylalanine having [bis(2-chloroethyl)amino group at the 4-position on the phenyl ring.


name: XRCC5_HUMAN X-ray repair cross-complementing protein 5 (sprot)

description: An X-ray repair cross-complementing protein 5 that is encoded in the genome of human.


name: ERBB2_HUMAN Receptor tyrosine-protein kinase erbB-2 (sprot)

description: A receptor tyrosine-protein kinase erbB-2 that is encoded in the genome of human.


name: NEUT_HUMAN Neurotensin/neuromedin N (sprot)

description: A neurotensin/neuromedin N that is encoded in the genome of human.


folic acid

An N-acyl-amino acid that is a form of the water-soluble vitamin B9. Its biologically active forms (tetrahydrofolate and others) are essential for nucleotide biosynthesis and homocysteine remethylation.


SYPH_HUMAN Synaptophysin (sprot)

A synaptophysin that is encoded in the genome of human.


dasatinib

An aminopyrimidine that is 2-methylpyrimidine which is substituted at position 4 by the primary amino group of 2-amino-1,3-thiazole-5-carboxylic acid and at position 6 by a 4-(2-hydroxyethyl)piperazin-1-yl group, and in which the carboxylic acid group has been formally condensed with 2-chloro-6-methylaniline to afford the corresponding amide. A multi-targeted kinase inhibitor, it is used, particularly as the monohydrate, for the treatment of chronic, accelerated, or myeloid or lymphoid blast phase chronic myeloid leukemia. Note that the name 'dasatinib' is used to refer to the monohydrate (USAN) as well as to anhydrous dasatinib (INN).


metastatic neoplasm

description: A tumor that has spread from its original (primary) site of growth to another site, close to or distant from the primary site. Metastasis is characteristic of advanced malignancies, but in rare instances can be seen in neoplasms lacking malignant morphology.


AFIMOXIFENE

A tertiary amino compound that is tamoxifen in which the phenyl group which is in a Z- relationship to the ethyl substituent is hydroxylated at the para- position. It is the active metabolite of tamoxifen.


isobutyric acid

A branched fatty acid comprising propanoic acid carrying a methyl branch at C-2.


name: MOT5_HUMAN Monocarboxylate transporter 5 (sprot)

description: A monocarboxylate transporter 5 that is encoded in the genome of human.


name: GHSR_HUMAN Growth hormone secretagogue receptor type 1 (sprot)

description: A growth hormone secretagogue receptor that is encoded in the genome of human.


chronic bronchitis

description: A type of chronic obstructive pulmonary disease characterized by chronic inflammation in the bronchial tree that results in edema, mucus production, obstruction, and reduced airflow to and from the lung alveoli. The most common cause is tobacco smoking. Signs and symptoms include coughing with excessive mucus production, and shortness of breath.


trametinib

A pyridopyrimidine that is used (as its dimethyl sulfoxide addition compound) for the treatment of patients with unresectable or metastatic melanoma with BRAF V600E or V600K mutations, and who have not received prior BRAF inhibitor treatment.


ibuprofen

A monocarboxylic acid that is propionic acid in which one of the hydrogens at position 2 is substituted by a 4-(2-methylpropyl)phenyl group.


Ear pain

description: Pain in the ear can be a consequence of otologic disease (primary or otogenic otalgia), or can arise from pathologic processes and structures other than the ear (secondary or referred otalgia).


(R)-sulforaphane

A sulforaphane in which the sulfinyl group has R configuration. Naturally occurring compound found in brocolli that acts as a potent inducer of phase II detoxification enzymes.


name: MAP11_HUMAN Methionine aminopeptidase 1 (sprot)

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


name: RAP1A_HUMAN Ras-related protein Rap-1A (sprot)

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


name: M3K2_HUMAN Mitogen-activated protein kinase kinase kinase 2 (sprot)

description: A mitogen-activated protein kinase kinase kinase 2 that is encoded in the genome of human.


Hypoesthesia

description: Decreased ability to perceive touch.


retinol

Any member of a group of fat-soluble retinoids produced via metabolism of provitamin A carotenoids that exhibit biological activity against vitamin A deficiency. Vitamin A is involved in immune function, vision, reproduction, and cellular communication.


Retinal dysplasia

description: The presence of developmental dysplasia of the retina.


name: HS71A_HUMAN Heat shock 70 kDa protein 1A (sprot)

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


name: RUNX1_HUMAN Runt-related transcription factor 1 (sprot)

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


aliskiren

A monomethoxybenzene compound having a 3-methoxypropoxy group at the 2-position and a multi-substituted branched alkyl substituent at the 4-position.


CATS_HUMAN Cathepsin S (sprot)

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


Membranous lupus nephritis

description: A lupus nephritis subclass with global or segmental subepithelial immune deposits or their morphological sequelae by light microscopy and by immunofluorescence or electron microscopy, with or without mesangial alterations. May occur in combination with class III or IV, in which case both classes are diagnosed. May show advanced sclerosis


GSDME_HUMAN Gasdermin-E (sprot)

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


lycopene

An acyclic carotene commonly obtained from tomatoes and other red fruits.


multiple sclerosis

description: A progressive autoimmune disorder affecting the central nervous system resulting in demyelination. Patients develop physical and cognitive impairments that correspond with the affected nerve fibers.


name: ACHA5_HUMAN Neuronal acetylcholine receptor subunit alpha-5 (sprot)

description: A neuronal acetylcholine receptor subunit alpha-5 that is encoded in the genome of human.


name: CDC6_HUMAN Cell division control protein 6 homolog (sprot)

description: A cell division control protein 6 that is encoded in the genome of human.


name: BAG2_HUMAN BAG family molecular chaperone regulator 2 (sprot)

description: A BAG family molecular chaperone regulator 2 that is encoded in the genome of human.


broxuridine

A pyrimidine 2'-deoxyribonucleoside compound having 5-bromouracil as the nucleobase.


S10A1_HUMAN Protein S100-A1 (sprot)

A protein S100-A1 that is encoded in the genome of human.


name: BRCA1_HUMAN Breast cancer type 1 susceptibility protein (sprot)

description: A breast cancer type 1 susceptibility protein that is encoded in the genome of human.


name: HDAC5_HUMAN Histone deacetylase 5 (sprot)

description: A histone deacetylase 5 that is encoded in the genome of human.


name: HDAC8_HUMAN Histone deacetylase 8 (sprot)

description: A histone deacetylase 8 that is encoded in the genome of human.


verapamil

A tertiary amino compound that is 3,4-dimethoxyphenylethylamine in which the hydrogens attached to the nitrogen are replaced by a methyl group and a 4-cyano-4-(3,4-dimethoxyphenyl)-5-methylhexyl group.


acute kidney tubular necrosis

description: Acute renal failure caused by the cell death of the renal tubules. Causes include nephrotoxins, cytotoxic drugs, and antibiotics.


name: BMP4_HUMAN Bone morphogenetic protein 4 (sprot)

description: A bone morphogenetic protein 4 that is encoded in the genome of human.


name: ATM_HUMAN Serine-protein kinase ATM (sprot)

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


name: RAG2_HUMAN V(D)J recombination-activating protein 2 (sprot)

description: A V(D)J recombination-activating protein 2 that is encoded in the genome of human.


name: SAA1_HUMAN Serum amyloid A-1 protein (sprot)

description: A primate-type serum amyloid A-1 protein that is encoded in the genome of human.


Abnormality of the skeletal system

description: An abnormality of the skeletal system.


regorafenib

A pyridinecarboxamide obtained by condensation of 4-[4-({[4-chloro-3-(trifluoromethyl)phenyl]carbamoyl}amino)-3-fluorophenoxy]pyridine-2-carboxylic acid with methylamine. Used for for the treatment of metastatic colorectal cancer in patients who have previously received chemotherapy, anti-EGFR or anti-VEGF therapy.


liposarcoma

description: A usually painless malignant tumor that arises from adipose tissue. Microscopically, it may contain a spectrum of neoplastic adipocytes ranging from lipoblasts to pleomorphic malignant adipocytes. Morphologic variants include: well differentiated, dedifferentiated, pleomorphic, and myxoid liposarcoma. The metastatic potential is higher in less differentiated tumors.


name: SOCS2_HUMAN Suppressor of cytokine signaling 2 (sprot)

description: A suppressor of cytokine signaling 2 that is encoded in the genome of human.


ISOLIQUIRITIGENIN

A member of the class of chalcones that is trans-chalcone hydroxylated at C-2', -4 and -4'.


patent ductus arteriosus

description: A congenital defect characterized by the failure of the ductus arteriosus to close soon after birth. As a consequence, blood from the aorta mixes with blood from the pulmonary artery. If untreated, it may lead to congestive heart failure.


prazosin

A member of the class of  piperazines that is piperazine substituted by a furan-2-ylcarbonyl group and a 4-amino-6,7-dimethoxyquinazolin-2-yl group at positions 1 and 4 respectively.


name: BCL2_HUMAN Apoptosis regulator Bcl-2 (sprot)

description: An apoptosis regulator Bcl-2 that is encoded in the genome of human.


potassium deficiency disease

description: Any disorder caused by an insufficient amount or availability of potassium, which generally manifests with myalgia, tetany, hypotension, polyuria, and polydipsia.


romidepsin

A cyclodepsipeptide consisting of the cyclic disulfide of (2Z)-2-aminobut-2-enoyl, L-valyl, (3S,4E)-3-hydroxy-7-sulfanylhept-4-enoyl, D-valyl and D-cysteinyl residues coupled in sequence and cyclised head-to tail.


name: ADAM9_HUMAN Disintegrin and metalloproteinase domain-containing protein 9 (sprot)

description: A disintegrin and metalloproteinase domain-containing protein 9 that is encoded in the genome of human.


SYT2_HUMAN Synaptotagmin-2 (sprot)

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


DAB2_HUMAN Disabled homolog 2 (sprot)

A disabled homolog 2 that is encoded in the genome of human.


name: OPRM_HUMAN Mu-type opioid receptor (sprot)

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


name: GOT1B_HUMAN Vesicle transport protein GOT1B (sprot)

description: A vesicle transport protein GOT1B that is encoded in the genome of human.


BEX3_HUMAN Protein BEX3 (sprot)

A protein BEX3 that is encoded in the genome of human.


GABA

A gamma-amino acid that is butanoic acid with the amino substituent located at C-4.


perfluoropentanoic acid

A monocarboxylic acid that is perfluorinated pentanoic acid.


ovarian cancer

description: A primary or metastatic malignant neoplasm involving the ovary. Most primary malignant ovarian neoplasms are either carcinomas (serous, mucinous, or endometrioid adenocarcinomas) or malignant germ cell tumors. Metastatic malignant neoplasms to the ovary include carcinomas, lymphomas, and melanomas.


vigabatrin

A gamma-amino acid having a gamma-vinyl GABA structure. It is an irreversible inhibitor of gamma-aminobutyric 664 acid transaminase


movement disorder

description: Neurological conditions resulting in abnormal voluntary or involuntary movement, which may impact the speed, fluency, quality and ease of movement.


tetracycline

A broad-spectrum polyketide antibiotic produced by the Streptomyces genus of actinobacteria.


name: PSB9_HUMAN Proteasome subunit beta type-9 (sprot)

description: A proteasome subunit beta type-9 that is encoded in the genome of human.


GRAA_HUMAN Granzyme A (sprot)

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


imatinib

A benzamide obtained by formal condensation of the carboxy group of 4-[(4-methylpiperazin-1-yl)methyl]benzoic acid with the primary aromatic amino group of 4-methyl-N(3)-[4-(pyridin-3-yl)pyrimidin-2-yl]benzene-1,3-diamine. Used (as its mesylate salt) for treatment of chronic myelogenous leukemia and gastrointestinal stromal tumours.


glomerulonephritis

description: A renal disorder characterized by damage in the glomeruli. It may be acute or chronic, focal or diffuse, and it may lead to renal failure. Causes include autoimmune disorders, infections, diabetes, and malignancies.


name: SHAN3_HUMAN SH3 and multiple ankyrin repeat domains protein 3 (sprot)

description: An SH3 and multiple ankyrin repeat domains protein 3 that is encoded in the genome of human.


name: BIRC3_HUMAN Baculoviral IAP repeat-containing protein 3 (sprot)

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


name: MBD5_HUMAN Methyl-CpG-binding domain protein 5 (sprot)

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


name: TET5C_HUMAN Terminal nucleotidyltransferase 5C (sprot)

description: A terminal nucleotidyltransferase 5C that is encoded in the genome of human.


MOTI_HUMAN Promotilin (sprot)

A promotilin that is encoded in the genome of human.


name: DHSD_HUMAN Succinate dehydrogenase [ubiquinone] cytochrome b small subunit, mitochondrial (sprot)

description: A succinate dehydrogenase [ubiquinone] cytochrome b small subunit, mitochondrial that is encoded in the genome of human.


colchicine

A colchicine that has (S)-configuration. It is a secondary metabolite, has anti-inflammatory properties and is used to treat gout, crystal-induced joint inflammation, familial Mediterranean fever, and many other conditions.


SECR_HUMAN Secretin (sprot)

A secretin that is encoded in the genome of human.


polyneuropathy

description: A disease or disorder affecting more than one nerve.


D-LIMONENE

An optically active form of limonene having (4R)-configuration.


name: KPCD_HUMAN Protein kinase C delta type (sprot)

description: A protein kinase C delta type that is encoded in the genome of human.


ALBU_HUMAN Albumin (sprot)

An albumin that is encoded in the genome of human.


SGCG_HUMAN Gamma-sarcoglycan (sprot)

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


CASP9_HUMAN Caspase-9 (sprot)

A caspase-9 that is encoded in the genome of human.


GDN_HUMAN Glia-derived nexin (sprot)

A glia-derived nexin that is encoded in the genome of human.


name: CDR2_HUMAN Cerebellar degeneration-related protein 2 (sprot)

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


METHYL ALCOHOL

The primary alcohol that is the simplest aliphatic alcohol, comprising a methyl and an alcohol group.


Acute encephalopathy

description: A life-threatening disorder characterized by delirium, seizures, and neuromuscular changes.


crizotinib

A  3-[1-(2,6-dichloro-3-fluorophenyl)ethoxy]-5-[1-(piperidin-4-yl)pyrazol-4-yl]pyridin-2-amine that has R configuration at the chiral centre. The active enantiomer, it acts as a kinase inhibitor and is used for the treatment of patients with locally advanced or metastatic non-small cell lung cancer (NSCLC)


neurofibromatosis type 1

description: A clinically heterogeneous, neurocutaneous genetic disorder characterized by cafe-au-lait spots, iris Lisch nodules, axillary and inguinal freckling, and multiple neurofibromas.


name: MCM5_HUMAN DNA replication licensing factor MCM5 (sprot)

description: A DNA replication licensing factor MCM5 that is encoded in the genome of human.


minoxidil

A pyrimidine N-oxide that is pyrimidine-2,4-diamine 3-oxide substituted by a piperidin-1-yl group at position 6.


name: CCND1_HUMAN G1/S-specific cyclin-D1 (sprot)

description: A G1/S-specific cyclin-D1 that is encoded in the genome of human.


spinal cord injury

description: Penetrating and non-penetrating injuries to the spinal cord resulting from traumatic external forces (e.g., WOUNDS, GUNSHOT; WHIPLASH INJURIES; etc.).


name: P5CR1_HUMAN Pyrroline-5-carboxylate reductase 1, mitochondrial (sprot)

description: A pyrroline-5-carboxylate reductase 1, mitochondrial that is encoded in the genome of human.


name: NCOA3_HUMAN Nuclear receptor coactivator 3 (sprot)

description: A nuclear receptor coactivator 3 that is encoded in the genome of human.


A carboxylic acid anion obtained by the removal of proton from the carboxy group of  4-phenylbutyric acid.


amyotrophic lateral sclerosis

description: Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease characterized by progressive muscular paralysis reflecting degeneration of motor neurons in the primary motor cortex, corticospinal tracts, brainstem and spinal cord.


name: HSPB3_HUMAN Heat shock protein beta-3 (sprot)

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


name: BRM1L_HUMAN Breast cancer metastasis-suppressor 1-like protein (sprot)

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


timolol

The (S)-(-) (more active) enantiomer of timolol. A beta-adrenergic antagonist, both the hemihydrate and the maleate salt are used in the mangement of glaucoma, hypertension, angina pectoris and myocardial infarction, and for the prevention of migraine.


Fuchs' endothelial dystrophy

description: Fuchs endothelial corneal dystrophy (FECD) is the most frequent form of posterior corneal dystrophy and is characterized by excrescences on a thickened Descemet membrane (corneal guttae), generalized corneal edema, with gradually decreased visual acuity.


name: I23O1_HUMAN Indoleamine 2,3-dioxygenase 1 (sprot)

description: An indoleamine 2,3-dioxygenase 1 that is encoded in the genome of human.


name: TIE2_HUMAN Angiopoietin-1 receptor (sprot)

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


TLR2_HUMAN Toll-like receptor 2 (sprot)

A Toll-like receptor 2 that is encoded in the genome of human.


creatine

A glycine derivative having methyl and amidino groups attached to the nitrogen.


name: DCE1_HUMAN Glutamate decarboxylase 1 (sprot)

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


name: AL1A1_HUMAN Aldehyde dehydrogenase 1A1 (sprot)

description: An aldehyde dehydrogenase 1A1 that is encoded in the genome of human.


name: IL27B_HUMAN Interleukin-27 subunit beta (sprot)

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


SPB7_HUMAN Serpin B7 (sprot)

A serpin B7 that is encoded in the genome of human.


rutoside

A rutinoside that is quercetin with the hydroxy group at position C-3 substituted with glucose and rhamnose sugar groups.


pravastatin

A carboxylic ester resulting from the formal condensation of (S)-2-methylbutyric acid with the hydroxy group adjacent to the ring junction of (3R,5R)-7-[(1S,2S,6S,8S,8aR)-6,8-dihydroxy-2-methyl-1,2,6,7,8,8a-hexahydronaphthalen-1-yl]-3,5-dihydroxyheptanoic acid. Derived from microbial transformation of mevastatin, pravastatin is a reversible inhibitor of 3-hydroxy-3-methylglutaryl-coenzyme A (HMG-CoA). The sodium salt is used for lowering cholesterol and preventing cardiovascular disease. It is one of the lower potency statins, but has the advantage of fewer side effects compared with lovastatin and simvastatin.


Huntington disease

description: Huntington disease (HD) is a rare neurodegenerative disorder of the central nervous system characterized by unwanted choreatic movements, behavioral and psychiatric disturbances and dementia.


name: BRD4_HUMAN Bromodomain-containing protein 4 (sprot)

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


polyvinyl alcohol

A homopolymer macromolecule obtained by polymerisation of vinyl alcohol.


name: SODM_HUMAN Superoxide dismutase [Mn], mitochondrial (sprot)

description: A superoxide dismutase [Mn], mitochondrial that is encoded in the genome of human.


lentinan

A 1,3 beta-glucan polysaccharide with beta-1,6 branching  isolated from the edible mushroom Lentinula edodes. It has a molecular weight of around 500,000 Da; the exact composition is unknown.


efavirenz

1,4-Dihydro-2H-3,1-benzoxazin-2-one substituted at the 4 position by cyclopropylethynyl and trifluoromethyl groups (S configuration) and at the 6 position by chlorine. A non-nucleoside reverse transcriptase inhibitor with activity against HIV, it is used with other antiretrovirals for combination therapy of HIV infection.


name: SOX9_HUMAN Transcription factor SOX-9 (sprot)

description: A transcription factor SOX-9 that is encoded in the genome of human.


agarose

A linear polysaccharide made up from alternating D-galactose and 3,6-anhydro-alpha-L-galactopyranose residues joined by alpha-(1->3)- and beta-(1->4)-linkages.


name: HINT1_HUMAN Adenosine 5'-monophosphoramidase HINT1 (sprot)

description: An adenosine 5'-monophosphoramidase HINT1 that is encoded in the genome of human.


PA21B_HUMAN Phospholipase A2 (sprot)

A phospholipase A2 that is encoded in the genome of human.


erlotinib

A quinazoline compound having a (3-ethynylphenyl)amino group at the 4-position and two 2-methoxyethoxy groups at the 6- and 7-positions.


name: SMR3B_HUMAN Submaxillary gland androgen-regulated protein 3B (sprot)

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


name: RHG07_HUMAN Rho GTPase-activating protein 7 (sprot)

description: A Rho GTPase-activating protein 7 that is encoded in the genome of human.


cromoglicic acid

A  dicarboxylic acid that is the bis-chromone derivative of glycerol. It is effective as a mast cell stabilizer.


nasal cavity polyp

description: A soft and painless polypoid mass that arises from the mucosa in the nasal cavity. It is usually the result of an inflammatory process. It may recur following surgical resection.


celecoxib

A member of the class of pyrazoles that is 1H-pyrazole which is substituted at positions 1, 3 and 5 by 4-sulfamoylphenyl, trifluoromethyl and p-tolyl groups, respectively. A cyclooxygenase-2 inhibitor, it is used in the treatment of arthritis.


name: S38A1_HUMAN Sodium-coupled neutral amino acid symporter 1 (sprot)

description: A sodium-coupled neutral amino acid symporter 1 that is encoded in the genome of human.


peripheral neuropathy

description: A disorder affecting the peripheral nervous system. It manifests with pain, tingling, numbness, and muscle weakness. It may be the result of physical injury, toxic substances, viral diseases, diabetes, renal failure, cancer, and drugs.


olaparib

A member of the class of N-acylpiperazines obtained by formal condensation of the carboxy group of 2-fluoro-5-[(4-oxo-3,4-dihydrophthalazin-1-yl)methyl]benzoic acid with the free amino group of N-(cyclpropylcarbonyl)piperazine; used to treat advanced ovarian cancer.


camostat

A benzoate ester resulting from the formal condensation of the carboxy group of 4-guanidinobenzoic acid with the hydroxy group of 2-(dimethylamino)-2-oxoethyl (4-hydroxyphenyl)acetate. It is a potent inhibitor of the human transmembrane protease serine 2 (TMPRSS2) and its mesylate salt is currently under investigation for its effectiveness in COVID-19 patients.


name: ATF2_HUMAN Cyclic AMP-dependent transcription factor ATF-2 (sprot)

description: A cyclic AMP-dependent transcription factor ATF-2 that is encoded in the genome of human.


NAPHTHOQUINONE

The parent structure of the family of 1,4-naphthoquinones, in which the oxo groups of the quinone moiety are at positions 1 and 4 of the naphthalene ring. Derivatives have pharmacological properties.


name: HS90A_HUMAN Heat shock protein HSP 90-alpha (sprot)

description: A heat shock protein HSP 90-alpha that is encoded in the genome of human.


auranofin

An S-glycosyl compound consisting of 2,3,4,6-tetra-O-acetyl-1-thio-beta-D-glucopyranose with the sufur atom coordinated to (triethylphosphoranylidene)gold. It is administered orally for the treatment of active progressive rheumatoid arthritis.


name: TCPQ_HUMAN T-complex protein 1 subunit theta (sprot)

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


name: mature T-cell and NK-cell non-Hodgkin lymphoma

description: This type of lymphoma is not frequently seen in the western hemisphere. Clinically, with the exception of anaplastic large cell lymphoma, mature T- and NK-cell lymphomas are among the most aggressive of all hematopoietic neoplasms. Representative disease entities include mycosis fungoides, angioimmunoblastic T-cell lymphoma, hepatosplenic T-cell lymphoma, and anaplastic large cell lymphoma.


BRADYKININ

A linear nonapeptide messenger belonging to the kinin group of proteins, with amino acid sequence RPPGFSPFR. Enzymatically produced from kallidin in the blood, it is a powerful vasodilator that causes smooth muscle contraction, and may mediate inflammation.


tramadol

A tertiary alcohol that is cyclohexanol substituted at positions 1 and 2 by 3-methoxyphenyl and dimethylaminomethyl groups respectively.


Brugada syndrome

description: A genetically heterogeneous condition characterized by complete or incomplete right bundle branch block accompanied by ST elevation in leads V1-V3. There is a high incidence of ventricular arrhythmia that may result in sudden death.


name: carnitine palmitoyltransferase II deficiency

description: Carnitine palmitoyltransferase II (CPT II) deficiency is an inherited metabolic disorder that affects mitochondrial oxidation of long chain fatty acids (LCFA). Three forms of CPT II deficiency have been described: a myopathic form, a severe infantile form and a neonatal form.


lysophosphatidic acid

A member of the class of lysophosphatidic acids obtained by hydrolytic removal of one of the two acyl groups of any phosphatidic acid. A 'closed' class.


name: TNR16_HUMAN Tumor necrosis factor receptor superfamily member 16 (sprot)

description: A tumor necrosis factor receptor superfamily member 16 that is encoded in the genome of human.


name: RGS2_HUMAN Regulator of G-protein signaling 2 (sprot)

description: A regulator of G-protein signaling 2 that is encoded in the genome of human.


HD_HUMAN Huntingtin (sprot)

A huntingtin that is encoded in the genome of human.


oleic acid

An octadec-9-enoic acid in which the double bond at C-9 has Z (cis) stereochemistry.


name: GPR55_HUMAN G-protein coupled receptor 55 (sprot)

description: A G-protein coupled receptor 55 that is encoded in the genome of human.


beraprost

An organic heterotricyclic compound that is (3aS,8bS)-2,3,3a,8b-tetrahydro-1H-benzo[b]cyclopenta[d]furan in which the hydrogens at positions 1R, 2R and 5 are replaced by (3S)-3-hydroxy-4-methyloct-1-en-6-yn-1-yl, hydroxy and 3-carboxypropyl groups, respectively. It is a prostaglandin receptor agonist which is approved to treat pulmonary arterial hypertension in Asia.


hyperinsulinism

description: Abnormally high levels of insulin in the blood.


atopic eczema

description: A chronic inflammatory genetically determined disease of the skin marked by increased ability to form reagin (IgE), with increased susceptibility to allergic rhinitis and asthma, and hereditary disposition to a lowered threshold for pruritus. It is manifested by lichenification, excoriation, and crusting, mainly on the flexural surfaces of the elbow and knee. In infants it is known as infantile eczema.


cryptococcosis

description: An acute or chronic, localized or disseminated infection by Cryptococcus neoformans. Sites of involvement include the lungs, central nervous system and meninges, skin, and visceral organs.--2004


name: TGIF1_HUMAN Homeobox protein TGIF1 (sprot)

description: A homeobox protein TGIF1 that is encoded in the genome of human.


name: HNF1A_HUMAN Hepatocyte nuclear factor 1-alpha (sprot)

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


name: GABPA_HUMAN GA-binding protein alpha chain (sprot)

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


name: GFAP_HUMAN Glial fibrillary acidic protein (sprot)

description: A glial fibrillary acidic protein that is encoded in the genome of human.


name: TBK1_HUMAN Serine/threonine-protein kinase TBK1 (sprot)

description: A serine/threonine-protein kinase TBK1 that is encoded in the genome of human.


bortezomib

L-Phenylalaninamide substituted at the amide nitrogen by a 1-(dihydroxyboranyl)-3-methylbutyl group and at N(alpha) by a pyrazin-2-ylcarbonyl group. It is a dipeptidyl boronic acid that reversibly inhibits the 26S proteasome.


PIWL1_HUMAN Piwi-like protein 1 (sprot)

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


end stage renal failure

description: Long-standing and persistent renal disease with glomerular filtration rate (GFR) less than 15 ml/min.


name: FOXA1_HUMAN Hepatocyte nuclear factor 3-alpha (sprot)

description: A hepatocyte nuclear factor 3-alpha that is encoded in the genome of human.


name: SPTB2_HUMAN Spectrin beta chain, non-erythrocytic 1 (sprot)

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


name: FBX22_HUMAN F-box only protein 22 (sprot)

description: An F-box only protein 22 that is encoded in the genome of human.


name: NGF_HUMAN Beta-nerve growth factor (sprot)

description: A beta-nerve growth factor that is encoded in the genome of human.


ITB2_HUMAN Integrin beta-2 (sprot)

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


name: RARA_HUMAN Retinoic acid receptor alpha (sprot)

description: A retinoic acid receptor alpha that is encoded in the genome of human.


name: TPA_HUMAN Tissue-type plasminogen activator (sprot)

description: A tissue-type plasminogen activator that is encoded in the genome of human.


name: PA2GA_HUMAN Phospholipase A2, membrane associated (sprot)

description: A phospholipase A2, membrane associated that is encoded in the genome of human.


THYG_HUMAN Thyroglobulin (sprot)

A thyroglobulin that is encoded in the genome of human.


name: IL27A_HUMAN Interleukin-27 subunit alpha (sprot)

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


name: STAT4_HUMAN Signal transducer and activator of transcription 4 (sprot)

description: A signal transducer and activator of transcription 4 that is encoded in the genome of human.


name: MMP9_HUMAN Matrix metalloproteinase-9 (sprot)

description: A matrix metalloproteinase-9 that is encoded in the genome of human.


name: MK09_HUMAN Mitogen-activated protein kinase 9 (sprot)

description: A mitogen-activated protein kinase 9 that is encoded in the genome of human.


name: SIR2_HUMAN NAD-dependent protein deacetylase sirtuin-2 (sprot)

description: An NAD-dependent protein deacetylase sirtuin-2 that is encoded in the genome of human.


name: CDK19_HUMAN Cyclin-dependent kinase 19 (sprot)

description: A cyclin-dependent kinase 19 that is encoded in the genome of human.


propranolol

A propanolamine that is propan-2-ol substituted by a propan-2-ylamino group at position 1 and a naphthalen-1-yloxy group at position 3.


cirrhotic cardiomyopathy

description: Cirrhotic cardiomyopathy is the term used to describe a constellation of features indicative of abnormal heart structure and function in patients with cirrhosis. These include systolic and diastolic dysfunction, electrophysiological changes, and macroscopic and microscopic structural changes.


name: KAT2B_HUMAN Histone acetyltransferase KAT2B (sprot)

description: A histone acetyltransferase KAT2B that is encoded in the genome of human.


name: PITX2_HUMAN Pituitary homeobox 2 (sprot)

description: A pituitary homeobox 2 that is encoded in the genome of human.


benzoic acid

A compound comprising a benzene ring core carrying a carboxylic acid substituent.


name: UCP2_HUMAN Dicarboxylate carrier SLC25A8 (sprot)

description: A dicarboxylate carrier SLC25A8 that is encoded in the genome of human.


suramin

A member of the class of phenylureas that is urea in which each of the amino groups has been substituted by a 3-({2-methyl-5-[(4,6,8-trisulfo-1-naphthyl)carbamoyl]phenyl}carbamoyl)phenyl group. An activator of both the rabbit skeletal muscle RyR1 and sheep cardiac RyR2 isoform ryanodine receptor channels, it has been used for the treatment of human African trypanosomiasis for over 100 years.


Guillain-Barre syndrome

description: A spectrum of rare post-infectious neuropathies that usually occur in otherwise healthy patients. GBS is clinically heterogeneous and encompasses acute inflammatory demyelinating polyradiculoneuropathy (AIDP), acute motor axonal neuropathy (AMAN) and acute motor-sensory axonal neuropathy (AMSAN), Miller-Fisher syndrome (MFS) and some other regional variants.


hydroxyurea

A member of the class of ureas that is urea in which one of the hydrogens is replaced by a hydroxy group. An antineoplastic used in the treatment of chronic myeloid leukaemia as well as for sickle-cell disease.


blood coagulation disease

description: A condition in which there is a deviation from or interruption of the normal coagulation properties of the blood.


name: PCSK9_HUMAN Proprotein convertase subtilisin/kexin type 9 (sprot)

description: A proprotein convertase subtilisin/kexin type 9 that is encoded in the genome of human.


autoimmune hepatitis

description: Hepatitis caused by autoantibodies. Drugs, infections, and toxins may trigger the production of the autoantibodies against the liver parenchyma.


name: COVID-19–associated multisystem inflammatory syndrome in children

description: A inflammatory syndrome in children infected by the SARS-CoV-2 with similarities to Kawasaki disease. Clinical manifestations range from fever and inflammation to myocardial injury, shock, and development of coronary artery aneurysms.


S10A4_HUMAN Protein S100-A4 (sprot)

A protein S100-A4 that is encoded in the genome of human.


name: GDF2_HUMAN Growth/differentiation factor 2 (sprot)

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


name: CXCR4_HUMAN C-X-C chemokine receptor type 4 (sprot)

description: A C-X-C chemokine receptor type 4 that is encoded in the genome of human.


ceftazidime

A third-generation cephalosporin antibiotic bearing pyridinium-1-ylmethyl and {[(2Z)-2-(2-amino-1,3-thiazol-4-yl)-2-{[(2-carboxypropan-2-yl)oxy]imino}acetamido groups at positions 3 and 7, respectively, of the cephem skeleton.


uremia

description: A clinical syndrome associated with the retention of renal waste products or uremic toxins in the blood. It is usually the result of renal insufficiency. Most uremic toxins are end products of protein or nitrogen catabolism, such as urea or creatinine. Severe uremia can lead to multiple organ dysfunctions with a constellation of symptoms.


chloroquine

An aminoquinoline that is quinoline which is substituted at position 4 by a [5-(diethylamino)pentan-2-yl]amino group at at position 7 by chlorine. It is used for the treatment of malaria, hepatic amoebiasis, lupus erythematosus, light-sensitive skin eruptions, and rheumatoid arthritis.


SF01_HUMAN Splicing factor 1 (sprot)

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


rosmarinic acid (racemate)

The 1-carboxy-2-(2,4-dihydroxyphenyl)ethyl ester of trans-caffeic acid.


LEUKOTRIENE D4

A leukotriene that is (7E,9E,11Z,14Z)-icosa-7,9,11,14-tetraenoic acid substituted by a hydroxy group at position 5 (5S) and a L-cysteinylglycinyl group at position 6 (6R).


name: MP2K1_HUMAN Dual specificity mitogen-activated protein kinase kinase 1 (sprot)

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


name: CHD1L_HUMAN Chromodomain-helicase-DNA-binding protein 1-like (sprot)

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


name: MDM2_HUMAN E3 ubiquitin-protein ligase Mdm2 (sprot)

description: An E3 ubiquitin-protein ligase Mdm2 that is encoded in the genome of human.


osimertinib

A member of the class of aminopyrimidines that is 4-(1-methylindol-3-yl)pyrimidin-2-amine in which one of the amino hydrogens is replaced by a 2-methoxy-4-[2-(dimethylamino)ethyl](methyl)amino-5-acrylamidophenyl group. Used (as the mesylate salt) for treatment of EGFR T790M mutation positive non-small cell lung cancer.


ATG5_HUMAN Autophagy protein 5 (sprot)

An autophagy protein 5 that is encoded in the genome of human.


name: V2R_HUMAN Vasopressin V2 receptor (sprot)

description: A vasopressin V2 receptor that is encoded in the genome of human.


name: CFTR_HUMAN Cystic fibrosis transmembrane conductance regulator (sprot)

description: A cystic fibrosis transmembrane conductance regulator that is encoded in the genome of human.


INDOXYL SULFATE

An aryl sulfate that is indoxyl in which the hydroxyl hydrogen is substituted by a sulfo group.


minocycline

A tetracycline analogue having a dimethylamino group at position 7 and lacking the methyl and hydroxy groups at position 5.


head and neck cancer

description: A primary or metastatic malignant neoplasm affecting the head and neck. Representative examples include oral cavity squamous cell carcinoma, laryngeal squamous cell carcinoma, and salivary gland carcinoma.


name: KLF4_HUMAN Krueppel-like factor 4 (sprot)

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


name: KLF2_HUMAN Krueppel-like factor 2 (sprot)

description: A krueppel-like factor 2 that is encoded in the genome of human.


acetylcholine

Actylcholine is an ester of acetic acid and choline, which acts as a neurotransmitter.


afatinib

A quinazoline compound having a 3-chloro-4-fluoroanilino group at the 4-position, a 4-dimethylamino-trans-but-2-enamido group at the 6-position, and an (S)-tetrahydrofuran-3-yloxy group at the 7-position. Used (as its dimaleate salt) for the first-line treatment of patients with metastatic non-small cell lung cancer.


name: XRCC2_HUMAN DNA repair protein XRCC2 (sprot)

description: A DNA repair protein XRCC2 that is encoded in the genome of human.


L-glutamine

An optically active form of glutamine having L-configuration.


name: primary cutaneous T-cell non-Hodgkin lymphoma

description: A T-cell non-Hodgkin lymphoma arising from the skin. Representative examples include mycosis fungoides and primary cutaneous anaplastic large cell lymphoma.


name: GDNF_HUMAN Glial cell line-derived neurotrophic factor (sprot)

description: A glial cell line-derived neurotrophic factor that is encoded in the genome of human.


name: TBP_HUMAN TATA-box-binding protein (sprot)

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


oxytocin

A cyclic nonapeptide hormone with amino acid sequence CYIQNCPLG that also acts as a neurotransmitter in the brain; the principal uterine-contracting and milk-ejecting hormone of the posterior pituitary. Together with the neuropeptide vasopressin, it is believed to influence social cognition and behaviour.


name: ISG20_HUMAN Interferon-stimulated gene 20 kDa protein (sprot)

description: An interferon-stimulated gene 20 kDa protein that is encoded in the genome of human.


name: ADA10_HUMAN Disintegrin and metalloproteinase domain-containing protein 10 (sprot)

description: A disintegrin and metalloproteinase domain-containing protein 10 that is encoded in the genome of human.


mucopolysaccharidosis

description: A group of autosomal recessive or X-linked inherited lysosomal storage disorders affecting the metabolism of mucopolysaccharides, resulting in the accumulation of mucopolysaccharides in the body. Signs and symptoms include organomegaly, mental retardation, abnormal skeletal development, heart disorders, hearing loss, and central nervous system deficiencies.