CHLE_HUMAN Cholinesterase (sprot)

A cholinesterase that is encoded in the genome of human.


Achondroplasia

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

description: Achondroplasia is the most common form of chondrodysplasia, characterized by rhizomelia, exaggerated lumbar lordosis, brachydactyly, and macrocephaly with frontal bossing and midface hypoplasia.


name: BAZ1A_HUMAN Bromodomain adjacent to zinc finger domain protein 1A (sprot)

description: A bromodomain adjacent to zinc finger domain protein 1A that is encoded in the genome of human.


name: NMNA2_HUMAN Nicotinamide/nicotinic acid mononucleotide adenylyltransferase 2 (sprot)

description: A nicotinamide/nicotinic acid mononucleotide adenylyltransferase 2 that is encoded in the genome of human.


name: TFIP8_HUMAN Tumor necrosis factor alpha-induced protein 8 (sprot)

description: A tumor necrosis factor alpha-induced protein 8 that is encoded in the genome of human.


gastrointestinal mucositis

description: Inflammation of the mucous membranes lining the gastrointestinal tract.


name: hypercalcemic type ovarian small cell carcinoma

description: An undifferentiated small cell carcinoma that arises from the ovary and is associated with hypercalcemia. Electron microscopic studies show neurosecretory granules are either absent or, when present, are in small numbers.


oropharynx cancer

description: A primary or metastatic malignant neoplasm that affects the oropharynx.


idiopathic scoliosis

description: A scoliosis with no known cause.


name: FA47C_HUMAN Putative protein FAM47C (sprot)

description: A putative protein FAM47C that is encoded in the genome of human.


name: FUND2_HUMAN FUN14 domain-containing protein 2 (sprot)

description: A FUN14 domain-containing protein 2 that is encoded in the genome of human.


mepivacaine

A piperidinecarboxamide in which N-methylpipecolic acid and 2,6-dimethylaniline have combined to form the amide bond. It is used as a local amide-type anaesthetic.


name: RPC6_HUMAN DNA-directed RNA polymerase III subunit RPC6 (sprot)

description: A DNA-directed RNA polymerase III subunit RPC6 that is encoded in the genome of human.


name: ITPR2_HUMAN Inositol 1,4,5-trisphosphate receptor type 2 (sprot)

description: An inositol 1,4,5-trisphosphate receptor type 2 that is encoded in the genome of human.


name: GEMI6_HUMAN Gem-associated protein 6 (sprot)

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


lymphangioma

description: A benign lesion composed of dilated lymphatic channels. Painless swelling is the usual clinical manifestation.


Invasive fungal infection

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

description: Fungal infection characterized by invasion of host tissues.


name: SCNNG_HUMAN Amiloride-sensitive sodium channel subunit gamma (sprot)

description: An amiloride-sensitive sodium channel subunit gamma that is encoded in the genome of human.


SNX3_HUMAN Sorting nexin-3 (sprot)

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


name: ORC4_HUMAN Origin recognition complex subunit 4 (sprot)

description: An origin recognition complex subunit 4 that is encoded in the genome of human.


NFASC_HUMAN Neurofascin (sprot)

A neurofascin that is encoded in the genome of human.


name: EMC4_HUMAN ER membrane protein complex subunit 4 (sprot)

description: An ER membrane protein complex subunit 4 that is encoded in the genome of human.


name: EMC3_HUMAN ER membrane protein complex subunit 3 (sprot)

description: An ER membrane protein complex subunit 3 that is encoded in the genome of human.


OPHN1_HUMAN Oligophrenin-1 (sprot)

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


name: ARH_HUMAN Low density lipoprotein receptor adapter protein 1 (sprot)

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


microphthalmia

description: Congenital or developmental anomaly in which the eyeballs are abnormally small.


name: SMRC2_HUMAN SWI/SNF complex subunit SMARCC2 (sprot)

description: A SWI/SNF complex subunit SMARCC2 that is encoded in the genome of human.


Skeletal muscle fibrosis

description: Excessive formation of fibrous bands of scar tissue in between muscle fibers.


Focal active colitis

description: Focal active colitis (FAC) is characterized by focal crypt damage caused by neutrophils. FAC is characterized by an inflammatory infiltrate consisting of intraepithelial neutrophils and/or neutrophils invading the lumen of the criptae, with no other microscopic alteration of the colonic mucosa and, in particular, without the presence of signs of chronic inflammation.


recurrent acute pancreatitis

description: Recurrent acute pancreatitis (RAP) is characterized by repeated attacks of acute pancreatitis (AP), which is defined as an acute inflammatory process of the pancreas with variable involvement of other regional tissues or remote organ systems.


name: RBM43_HUMAN RNA-binding protein 43 (sprot)

description: An RNA-binding protein 43 that is encoded in the genome of human.


intestinal type adenocarcinoma

description: An adenocarcinoma arising from epithelium which has undergone intestinal metaplasia. Representative examples include gastric, gallbladder, and ampulla of Vater intestinal type adenocarcinomas.


name: ARL8B_HUMAN ADP-ribosylation factor-like protein 8B (sprot)

description: An ADP-ribosylation factor-like protein 8B that is encoded in the genome of human.


name: KLF17_HUMAN Krueppel-like factor 17 (sprot)

description: A krueppel-like factor 17 that is encoded in the genome of human.


Testicular ischemia

description: Restriction of arterial blood supply to a testis associated with insufficient oxygenation to support the metabolic requirements of the tissue. Clinical manifestations may include pain and swelling of the affected testis.


name: DNJC3_HUMAN DnaJ homolog subfamily C member 3 (sprot)

description: A DnaJ homolog subfamily C member 3 that is encoded in the genome of human.


FCN1_HUMAN Ficolin-1 (sprot)

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


adrenoleukodystrophy

description: A peroxisomal disorder resulting in cerebral demyelination, axonal dysfunction in the spinal cord leading to spastic paraplegia, adrenal insufficiency and in some cases testicular insufficiency.


name: COX3_HUMAN Cytochrome c oxidase subunit 3 (sprot)

description: A cytochrome c oxidase subunit 3 that is encoded in the genome of human.


acromegaly

description: Acromegaly is an acquired disorder related to excessive production of growth hormone (GH) and characterized by progressive somatic disfigurement (mainly involving the face and extremities) and systemic manifestations.


name: MMP24_HUMAN Matrix metalloproteinase-24 (sprot)

description: A matrix metalloproteinase-24 that is encoded in the genome of human.


name: VAPB_HUMAN Vesicle-associated membrane protein-associated protein B/C (sprot)

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


name: TP4A1_HUMAN Protein tyrosine phosphatase type IVA 1 (sprot)

description: A protein tyrosine phosphatase type IVA 1 that is encoded in the genome of human.


name: RUSC1_HUMAN AP-4 complex accessory subunit RUSC1 (sprot)

description: An AP-4 complex accessory subunit RUSC1 that is encoded in the genome of human.


name: GCKR_HUMAN Glucokinase regulatory protein (sprot)

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


name: BCDO2_HUMAN Carotenoid-cleaving dioxygenase, mitochondrial (sprot)

description: A carotenoid-cleaving dioxygenase, mitochondrial that is encoded in the genome of human.


spinal cord ischemia

description: Reduced blood flow to the spinal cord which is supplied by the anterior spinal artery and the paired posterior spinal arteries. This condition may be associated with arteriosclerosis, trauma, emboli, diseases of the aorta, and other disorders. Prolonged ischemia may lead to infarction of spinal cord tissue.


name: ADA33_HUMAN Disintegrin and metalloproteinase domain-containing protein 33 (sprot)

description: A disintegrin and metalloproteinase domain-containing protein 33 that is encoded in the genome of human.


name: IMDH1_HUMAN Inosine-5'-monophosphate dehydrogenase 1 (sprot)

description: An inosine-5'-monophosphate dehydrogenase 1 that is encoded in the genome of human.


eosinophilic gastroenteritis

description: Eosinophilic gastroenteritis (EGE) is a rare benign gastrointestinal disease characterized by the presence of abnormal and nonspecific gastro-intestinal (GI) manifestations, associated with an eosinophilic infiltration of the GI tract, which can affect several segments and involve several layers within the GI wall.


name: PEX19_HUMAN Peroxisomal biogenesis factor 19 (sprot)

description: A peroxisomal biogenesis factor 19 that is encoded in the genome of human.


name: sulfite oxidase deficiency due to molybdenum cofactor deficiency type A

description: An autosomal recessive condition that is caused by mutation(s) in the MOCS1 gene, encoding molybdenum cofactor biosynthesis protein 1. it is characterized by poor feeding, encephalopathy, seizures and dysmorphic facial features.


CLRN3_HUMAN Clarin-3 (sprot)

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


NRX3B_HUMAN Neurexin-3-beta (sprot)

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


plexiform neurofibroma

description: An elongated and multinodular neurofibroma, formed when the tumor involves either multiple trunks of a plexus or multiple fascicles of a large nerve, such as the sciatic. Some plexiform neurofibromas resemble a bag of worms, others produce a massive ropy enlargement of the nerve. (Adapted from WHO.)


name: TAF3_HUMAN Transcription initiation factor TFIID subunit 3 (sprot)

description: A transcription initiation factor TFIID subunit 3 that is encoded in the genome of human.


mevalonic acid

A racemate composed of equimolar amounts of (R)- and (S)-mevalonic acid.


name: CAH8_HUMAN Carbonic anhydrase-related protein (sprot)

description: A carbonic anhydrase-related protein that is encoded in the genome of human.


name: PANO1_HUMAN Proapoptotic nucleolar protein 1 (sprot)

description: A protein that is a translation product of the PANO1 gene in human.


name: MFS4B_HUMAN Sodium-dependent glucose transporter 1 (sprot)

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


atrophy of testis

description: Loss of testicular volume.


phosphatidylcholine (18:2/18:3)

A phosphatidylcholine 36:5 in which the fatty acyl groups at positions 1 and 2 are specified as C18:2 and C18:3 respectively.


name: DPOG2_HUMAN DNA polymerase subunit gamma-2 (sprot)

description: A DNA polymerase subunit gamma-2, mitochondrial that is encoded in the genome of human.


ALLYL ALCOHOL

A propenol in which the C=C bond connects C-2 and C-3. It is has been found in garlic (Allium sativum). Formerly used as a herbicide for the control of various grass and weed seeds.


name: SMC6_HUMAN Structural maintenance of chromosomes protein 6 (sprot)

description: A structural maintenance of chromosomes protein 6 that is encoded in the genome of human.


JADE1_HUMAN Protein Jade-1 (sprot)

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


TROAP_HUMAN Tastin (sprot)

A trophinin-associated protein that is encoded in the genome of human.


name: CORA1_HUMAN Collagen alpha-1(XXVII) chain (sprot)

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


name: PKHA1_HUMAN Pleckstrin homology domain-containing family A member 1 (sprot)

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


name: HMX2_HUMAN Homeobox protein HMX2 (sprot)

description: A homeobox protein HMX2 that is encoded in the genome of human.


Lipoatrophy

description: Localized loss of fat tissue.


name: UBP26_HUMAN Ubiquitin carboxyl-terminal hydrolase 26 (sprot)

description: A ubiquitin carboxyl-terminal hydrolase 26 that is encoded in the genome of human.


name: RASF4_HUMAN Ras association domain-containing protein 4 (sprot)

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


name: FOXJ2_HUMAN Forkhead box protein J2 (sprot)

description: A forkhead box protein J2 that is encoded in the genome of human.


3-hydroxylauric acid

A medium-chain fatty acid that is the 3-hydroxylated derivative of lauric acid;  associated with fatty acid metabolic disorders.


COR1C_HUMAN Coronin-1C (sprot)

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


name: CEND_HUMAN Cell cycle exit and neuronal differentiation protein 1 (sprot)

description: A cell cycle exit and neuronal differentiation protein 1 that is encoded in the genome of human.


name: E2F8_HUMAN Transcription factor E2F8 (sprot)

description: A transcription factor E2F8 that is encoded in the genome of human.


Alizarin Red S

An organic sodium salt having  3,4-dihydroxy-9,10-dioxo-9,10-dihydroanthracene-2-sulfonate as the counterion. It is commonly used to stain embryo skeletons in cleared whole mounts, usually of small mammals.


trans-vaccenic acid

The trans- isomer of vaccenic acid.


name: TMIG1_HUMAN Transmembrane and immunoglobulin domain-containing protein 1 (sprot)

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


Gait disturbance

description: The term gait disturbance can refer to any disruption of the ability to walk. In general, this can refer to neurological diseases but also fractures or other sources of pain that is triggered upon walking. However, in the current context gait disturbance refers to difficulty walking on the basis of a neurological or muscular disease.


Hepatic focal nodular hyperplasia

description: Hepatic focal nodular hyperplasia (FNH) is a benign hepatic tumor. FNH develops within hepatic parenchymal tissue that is otherwise histologically normal. Macroscopically, the tumor is characterized by the presence of depressed, grayish-white scar, which is generally (but not always) located at the center of the lesion, with fibrous septa radiating outward, toward the periphery of the tumor. This stellate scar is found in only 50% of all FNH nodules, but its presence is regarded as pathognomonic. The lesion itself is usually lighter in color than the tissue that surrounds it, and it sometimes has a yellowish hue. FNH nodules are generally not capsulated; their margins are well defined, and they are sometimes lobulated.


name: Increased circulating copper concentration

description: An abnormally elevated concentration of copper in the blood circulation. This term refers to the total copper concentration.


name: HOME3_HUMAN Homer protein homolog 3 (sprot)

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


name: IKBZ_HUMAN NF-kappa-B inhibitor zeta (sprot)

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


methyl isocyanate

The isocyanate that is methane modified by a single isocyanato substituent.


porphobilinogen

A dicarboxylic acid that is pyrole bearing aminomethyl, carboxymethyl and 2-carboxyethyl substituents at positions 2, 3 and 4 respectively.


name: DJC14_HUMAN DnaJ homolog subfamily C member 14 (sprot)

description: A DnaJ homolog subfamily C member 14 that is encoded in the genome of human.


name: CDCA3_HUMAN Cell division cycle-associated protein 3 (sprot)

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


testicular Leydig cell tumor

description: A sex cord-stromal tumor that arises from the testis and is characterized by the presence of cells that resemble the successive stages of development of Leydig cells. It usually presents as a painless testicular mass. Gynecomastia is present in approximately thirty percent of the cases. Libido may be decreased. In children, precocious puberty may be present. A minority of cases exhibit malignant characteristics.


aphasia

description: A language disorder that involves an acquired impairment of any language modality such as producing or comprehending spoken or written language.


name: COX7B_HUMAN Cytochrome c oxidase subunit 7B, mitochondrial (sprot)

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


extrinsic cardiomyopathy

description: A cardiomyopathy that is not due to abnormalities in heart muscle cells.


AKIR2_HUMAN Akirin-2 (sprot)

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


name: CPXM2_HUMAN Inactive carboxypeptidase-like protein X2 (sprot)

description: An inactive carboxypeptidase-like protein X2 that is encoded in the genome of human.


bronchial endocrine tumor

description: A neuroendocrine neoplasm that involves the bronchus.


name: KAD4_HUMAN Adenylate kinase 4, mitochondrial (sprot)

description: An adenylate kinase 4, mitochondrial that is encoded in the genome of human.


hepatitis D virus infection

description: Inflammation of the liver in humans caused by hepatitis delta virus, a defective RNA virus that can only infect hepatitis B patients. For its viral coating, hepatitis delta virus requires the hepatitis B surface antigens produced by these patients. Hepatitis D can occur either concomitantly with (coinfection) or subsequent to (superinfection) hepatitis B infection. Similar to hepatitis B, it is primarily transmitted by parenteral exposure, such as transfusion of contaminated blood or blood products, but can also be transmitted via sexual or intimate personal contact.


name: ST1A3_HUMAN Sulfotransferase 1A3 (sprot)

description: A sulfotransferase 1A3 that is encoded in the genome of human.


name: ISK2_HUMAN Serine protease inhibitor Kazal-type 2 (sprot)

description: A serine protease inhibitor Kazal-type 2 that is encoded in the genome of human.


Premature arteriosclerosis

description: Arteriosclerosis occurring at an age that is younger than usual.


name: ALPK2_HUMAN Alpha-protein kinase 2 (sprot)

description: An alpha-protein kinase 2 that is encoded in the genome of human.


name: SAT1_HUMAN Diamine acetyltransferase 1 (sprot)

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


NK1R_HUMAN Substance-P receptor (sprot)

A substance-P receptor that is encoded in the genome of human.


arthritis, sacroiliac

description: Inflammation of the sacroiliac joint, generally accompanied by lower back pain.


name: S7A13_HUMAN Solute carrier family 7 member 13 (sprot)

description: A solute carrier family 7 member 13 that is encoded in the genome of human.


name: GPHB5_HUMAN Glycoprotein hormone beta-5 (sprot)

description: A glycoprotein hormone beta-5 that is encoded in the genome of human.


propionic acidemia

description: Propionic acidemia (PA) is an organic aciduria caused by the deficient activity of the propionyl Coenzyme A carboxylase and is characterized by life threatening episodes of metabolic decompensation, neurological dysfunction and that may be complicated by cardiomyopathy.


name: TLR10_HUMAN Toll-like receptor 10 (sprot)

description: A Toll-like receptor 10 that is encoded in the genome of human.


name: RB40B_HUMAN Ras-related protein Rab-40B (sprot)

description: A Ras-related protein Rab-40B that is encoded in the genome of human.


acenocoumarol

A hydroxycoumarin that is warfarin in which the hydrogen at position 4 of the phenyl substituent is replaced by a nitro group.


magnesium chloride

A magnesium salt comprising of two chlorine atoms bound to a magnesium atom.


name: RPAP1_HUMAN RNA polymerase II-associated protein 1 (sprot)

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


Full-thickness macular hole

description: Full-thickness macular hole (FTMH) is defined as a foveal lesion with interruption of all retinal layers from the internal limiting membrane to the retinal pigment epithelium. Full-thickness macular hole is primary if caused by vitreous traction or secondary if directly the result of pathologic characteristics other than vitreomacular traction. Full-thickness macular hole is subclassified by size of the hole as determined by OCT and the presence or absence of vitreomacular traction.


DEACETYLGEDUNIN

A limonoid that is the 7-deacetyl derivative of gedunin. It has been isolated from Azadirachta indica.


name: UB2V1_HUMAN Ubiquitin-conjugating enzyme E2 variant 1 (sprot)

description: A ubiquitin-conjugating enzyme E2 variant 1 that is encoded in the genome of human.


phosphatidylethanolamine (16:1/16:1)

A 1,2-diacyl-sn-glycero-3-phosphoethanolamine in which both acyl groups contain 16 carbons and 1 double bond.


SEP11_HUMAN Septin-11 (sprot)

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


hemorrhagic fever

description: An infectious disease caused by certain viruses or bacteria that can damage the walls of tiny blood vessels, making them leak, and can hamper the blood's ability to clot and cause severe, life-threatening illness.


name: KC1E_HUMAN Casein kinase I isoform epsilon (sprot)

description: A casein kinase I isoform epsilon that is encoded in the genome of human.


name: CSN2_HUMAN COP9 signalosome complex subunit 2 (sprot)

description: A COP9 signalosome complex subunit 2 that is encoded in the genome of human.


breast papillary carcinoma

description: A breast carcinoma characterized by the formation of irregular, finger-like projections of fibrous stroma covered with neoplastic epithelial cells.


name: ALAT2_HUMAN Alanine aminotransferase 2 (sprot)

description: An alanine aminotransferase 2 that is encoded in the genome of human.


TSN12_HUMAN Tetraspanin-12 (sprot)

A tetraspanin-12 that is encoded in the genome of human.


seasonal affective disorder

description: A syndrome characterized by depressions that recur annually at the same time each year, usually during the winter months. Other symptoms include anxiety, irritability, decreased energy, increased appetite (carbohydrate cravings), increased duration of sleep, and weight gain. sad (seasonal affective disorder) can be treated by daily exposure to bright artificial lights (phototherapy), during the season of recurrence.


name: Abnormal nervous system electrophysiology

description: An abnormality of the function of the electrical signals with which nerve cells communicate with each other or with muscles as measured by electrophysiological investigations.


multiple endocrine neoplasia type 2

description: Multiple endocrine neoplasia type 2 (MEN2) is a multiple endocrine neoplasia, a polyglandular cancer syndrome characterized by the occurrence of medullary thyroid carcinoma (MTC), pheochromocytoma (PCC), in one variant, primary hyperparathyroidism (PHPT). There are three forms: MEN2A, MEN2B, and familial medullary thyroid carcinoma (FMTC).


PANDAS

description: PANDAS is an acronym for Pediatric Autoimmune Neuropsychiatric Disorders Associated with a group A beta-hemolytic Streptococcal infection and applied to a subgroup of children with obsessive-compulsive disorder (OCD) and/or tic disorders.


fibromuscular dysplasia

description: A disorder characterized by fibrous thickening of the arterial wall resulting in narrowing of the arterial lumen. It most often affects the renal artery and less often the carotid artery and abdominal arteries. It can cause hypertension and aneurysm formation.


phytoceramide

A class of phytoceramides obtained by formal condensation of the carboxy group of any fatty acid with the amino group of any phytosphingoid base.


cefoxitin

A semisynthetic cephamycin antibiotic which, in addition to the methoxy group at the 7alpha position, has 2-thienylacetamido and carbamoyloxymethyl side-groups. It is resistant to beta-lactamase.


granulocytic sarcoma

description: A tumor mass composed of myeloblasts, neutrophils and neutrophil precursors. Granulocytic sarcoma is the most common type of myeloid sarcoma. (WHO, 2001)


name: GRHL2_HUMAN Grainyhead-like protein 2 homolog (sprot)

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


ovarian teratoma

description: A non-seminomatous germ cell tumor arising from the ovary. It is characterized by the presence of various tissues which correspond to the different germinal layers (endoderm, mesoderm, and ectoderm). According to the level of differentiation of the tissues which comprise the tumor, ovarian teratomas are classified as mature or immature. Mature teratomas are composed of well differentiated, adult-type tissues. Immature teratomas are composed of immature, fetal type-tissues. Mature ovarian teratomas without a fetal-type component have an excellent outcome. The prognosis of immature ovarian teratomas is related to the grade and stage of the tumor.


autosomal recessive Alport syndrome

description: Autosomal recessive Alport syndrome isa genetic condition characterized by kidney disease, hearing loss, and eye abnormalities. Most affected individuals experience progressive loss of kidney function, usually resulting in end-stage kidney disease. People with Alport syndrome frequently develop sensorineural hearing loss in late childhood or early adolescence. The eye abnormalities seen in this condition seldom lead to vision loss. Alport syndrome can have different patterns of inheritance. About15 percentof Alport syndrome cases are inherited in an autosomal recessive pattern and are caused bymutations in both copies of the COL4A3 or COL4A4 genes. Treatment is based on the symptoms present and may include medications to delay the progression of kidney disease. In most cases, a kidney transplant is eventually needed.


SFI1_HUMAN Protein SFI1 homolog (sprot)

A protein SFI1 that is encoded in the genome of human.


CONIFERYL ALDEHYDE

A member of the class of cinnamaldehydes that is cinnamaldehyde substituted by a hydroxy group at position 4 and a methoxy group at position 3.


name: DPTOR_HUMAN DEP domain-containing mTOR-interacting protein (sprot)

description: A DEP domain-containing mTOR-interacting protein that is encoded in the genome of human.


name: PRIPO_HUMAN DNA-directed primase/polymerase protein (sprot)

description: A DNA-directed primase/polymerase protein that is encoded in the genome of human.


name: PLCB_HUMAN 1-acyl-sn-glycerol-3-phosphate acyltransferase beta (sprot)

description: A 1-acyl-sn-glycerol-3-phosphate acyltransferase beta that is encoded in the genome of human.


autoimmune cardiomyopathy

description: An autoimmune form of cardiomyopathy.


name: CHP2_HUMAN Calcineurin B homologous protein 2 (sprot)

description: A calcineurin B homologous protein 2 that is encoded in the genome of human.


name: GRIA4_HUMAN Glutamate receptor 4 (sprot)

description: A glutamate receptor 4 that is encoded in the genome of human.


name: LYPD3_HUMAN Ly6/PLAUR domain-containing protein 3 (sprot)

description: An Ly6/PLAUR domain-containing protein 3 that is encoded in the genome of human.


name: SSU72_HUMAN RNA polymerase II subunit A C-terminal domain phosphatase SSU72 (sprot)

description: An RNA polymerase II subunit A C-terminal domain phosphatase SSU72 that is encoded in the genome of human.


name: PSPC1_HUMAN Paraspeckle component 1 (sprot)

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


CHOLINE CHLORIDE

A quaternary ammonium salt with choline cation and chloride anion.


felypressin

A synthetic nonapeptide comprising cysteinyl, phenylalanyl, phenylalanyl, glutaminyl, asparaginyl, cysteinyl, prolyl, lysyl, and glycinamide residues in sequence, with a disulfide bridge joining the two cysteine residues. Its antidiuretic effects are less than those of vasopressin. It is used as a vasoconstrictor in local anaesthetic injections for dental use, and is an ingredient of preparations that have been used for treatment of pain and inflammation of the mouth.


name: RBBP5_HUMAN Retinoblastoma-binding protein 5 (sprot)

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


name: STXB3_HUMAN Syntaxin-binding protein 3 (sprot)

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


name: TEN1L_HUMAN CST complex subunit TEN1 (sprot)

description: A CST complex subunit TEN1 that is encoded in the genome of human.


name: SV2A_HUMAN Synaptic vesicle glycoprotein 2A (sprot)

description: A synaptic vesicle glycoprotein 2A that is encoded in the genome of human.


name: NELFB_HUMAN Negative elongation factor B (sprot)

description: A negative elongation factor B that is encoded in the genome of human.


name: DC1L2_HUMAN Cytoplasmic dynein 1 light intermediate chain 2 (sprot)

description: A cytoplasmic dynein 1 light intermediate chain 2 that is encoded in the genome of human.


myeloid neoplasm

description: Proliferation of myeloid cells originating from a primitive stem cell.


UMBELLIFERONE

A hydroxycoumarin that is coumarin substituted by a hydroxy group ay position 7.


Omenn syndrome

description: An inflammatory condition characterized by erythroderma, desquamation, alopecia, chronic diarrhea, failure to thrive, lymphadenopathy, and hepatosplenomegaly, associated with severe combined immunodeficiency (SCID).


interstitial emphysema

description: Pathologic accumulation of air in the interstitium of the lungs, which is caused by the rupture of alveoli and terminal bronchioles, and is most often seen in premature infants that need mechanical ventilation for respiratory distress syndrome.


EVI5L_HUMAN EVI5-like protein (sprot)

An EVI5-like protein that is encoded in the genome of human.


flucloxacillin

A penicillin compound having a 6beta-[3-(2-chloro-6-fluorophenyl)-5-methyl-1,2-oxazole-4-carboxamido] side-chain.


lysophosphatidylserine

An acylglycerophosphoserine resulting from partial hydrolysis of a phosphatidylserine, which removes one of the fatty acid groups. The structure is depicted in the image where R(1) = acyl, R(2) = H or where R(1) = H, R(2) = acyl. Formula C7H13NO9PR, where R represents the hydrocarbon chain of the fatty acyl group.


name: GP174_HUMAN Probable G-protein coupled receptor 174 (sprot)

description: A probable G-protein coupled receptor 174 that is encoded in the genome of human.


name: SLIK6_HUMAN SLIT and NTRK-like protein 6 (sprot)

description: A SLIT and NTRK-like protein 6 that is encoded in the genome of human.


mycobacterial infectious disease

description: Infection due to organisms from the genus Mycobacteria.


bendroflumethiazide

A sulfonamide consisting of 7-sulfamoyl-3,4-dihydro-2H-1,2,4-benzothiadiazine 1,1-dioxide in which the hydrogen at position 6 is substituted by a trifluoromethyl group and that at position 3 is substituted by a benzyl group.


atypical lobular breast hyperplasia

description: Lobular neoplasia characterized by lobular epithelial proliferation that does not completely fill the lobular unit of the breast.


name: BIRC7_HUMAN Baculoviral IAP repeat-containing protein 7 (sprot)

description: A baculoviral IAP repeat-containing protein 7 that is encoded in the genome of human.


name: INP4B_HUMAN Inositol polyphosphate 4-phosphatase type II (sprot)

description: An inositol polyphosphate 4-phosphatase type II that is encoded in the genome of human.


name: NALD2_HUMAN N-acetylated-alpha-linked acidic dipeptidase 2 (sprot)

description: An N-acetylated-alpha-linked acidic dipeptidase 2 that is encoded in the genome of human.


name: TRAT1_HUMAN T-cell receptor-associated transmembrane adapter 1 (sprot)

description: A T-cell receptor-associated transmembrane adapter 1 that is encoded in the genome of human.


A member of the class of indoles that is  acetamide substituted by a 1H-indol-3-yl group at position 2. It is an intermediate in the production of plant hormone indole acetic acid (IAA).


Hypotriglyceridemia

description: An decrease in the level of triglycerides in the blood.


phosphatidylcholine (18:1/20:4)

A phosphatidylcholine 38:5 in which the fatty acyl groups at positions 1 and 2 are specified as C18:1 and C20:4 respectively.


A 3beta-hydroxy steroid that is epiandrosterone carrying a hydroxy group at the 7beta position. It is an endogenous androgen metabolite that has been shown to exert neuroprotective effects.


name: carnitine palmitoyl transferase 1A deficiency

description: Carnitine palmitoyltransferase 1A (CPT-1A) deficiency is an inborn error of metabolism that affects mitochondrial oxidation of long chain fatty acids (LCFA) in the liver and kidneys, and is characterized by recurrent attacks of fasting-induced hypoketotic hypoglycemia and risk of liver failure.


name: UBP12_HUMAN Ubiquitin carboxyl-terminal hydrolase 12 (sprot)

description: A ubiquitin carboxyl-terminal hydrolase 12 that is encoded in the genome of human.


LIPA3_HUMAN Liprin-alpha-3 (sprot)

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


diffuse scleroderma

description: A variant of systemic scleroderma characterized by sclerosis of the skin, Raynaud phenomenon, and organ involvement, including pulmonary fibrosis, renal disease, and gastrointestinal tract involvement.


CASB_HUMAN Beta-casein (sprot)

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


name: LRC8A_HUMAN Volume-regulated anion channel subunit LRRC8A (sprot)

description: A volume-regulated anion channel subunit LRRC8A that is encoded in the genome of human.


name: GIP_HUMAN Gastric inhibitory polypeptide (sprot)

description: A gastric inhibitory polypeptide that is encoded in the genome of human.


phosphatidylglycerol (18:2/16:0)

A phosphatidylglycerol 34:2 in which the 1- and 2-acyl groups are specified as octadecadienoyl and hexadecanoyl respectively.


skeletal dysplasia

description: Any Mendelian diseases that affects growth and development of the skeleton.


lumpy skin disease

description: A poxvirus infection of cattle characterized by the appearance of nodules on all parts of the skin.


Microprolactinoma

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


name: ECHD3_HUMAN Enoyl-CoA hydratase domain-containing protein 3, mitochondrial (sprot)

description: An enoyl-CoA hydratase domain-containing protein 3, mitochondrial that is encoded in the genome of human.


very long-chain fatty acid

A fatty acid which has a chain length greater than C22. Very long-chain fatty acids which have a chain length greater than C27 are also known as ultra-long-chain fatty acids.


TPD53_HUMAN Tumor protein D53 (sprot)

A tumor protein D53 that is encoded in the genome of human.


name: ARHGB_HUMAN Rho guanine nucleotide exchange factor 11 (sprot)

description: A Rho guanine nucleotide exchange factor 11 that is encoded in the genome of human.


name: KLH20_HUMAN Kelch-like protein 20 (sprot)

description: A kelch-like protein 20 that is encoded in the genome of human.


retroperitoneal cancer

description: A primary or metastatic malignant neoplasm involving the retroperitoneum. The vast majority of cases are carcinomas, lymphomas, or sarcomas.


name: MSL1_HUMAN Male-specific lethal 1 homolog (sprot)

description: A male-specific lethal 1 that is encoded in the genome of human.


name: TR19L_HUMAN Tumor necrosis factor receptor superfamily member 19L (sprot)

description: A tumor necrosis factor receptor superfamily member 19L that is encoded in the genome of human.


name: SART3_HUMAN Squamous cell carcinoma antigen recognized by T-cells 3 (sprot)

description: A squamous cell carcinoma antigen recognized by T-cells 3 that is encoded in the genome of human.


conjunctival tumor

description: A benign or malignant neoplasm that affects the conjunctiva. Representative examples include papilloma, squamous cell carcinoma, and melanoma.


acute biphenotypic leukemia

description: An acute leukemia of ambiguous lineage characterized by blasts which coexpress myeloid and T or B lineage antigens or concurrent B and T lineage antigens. (WHO, 2001)


name: VPS45_HUMAN Vacuolar protein sorting-associated protein 45 (sprot)

description: A vacuolar protein sorting-associated protein 45 that is encoded in the genome of human.


name: LIRA2_HUMAN Leukocyte immunoglobulin-like receptor subfamily A member 2 (sprot)

description: A leukocyte immunoglobulin-like receptor subfamily A member 2 that is encoded in the genome of human.


paraneoplastic syndrome

description: A classification for rare disorders of diverse organ systems (endocrine, neuromuscular, gastrointestinal, renal, dermatologic, rheumatologic, hematologic) that are affected by substances secreted by a distant neoplasm but not by the action of the neoplasm itself metastasizing to that organ or tissue. Less than 1 % of neoplasms are associated with these syndromes. An immune-mediated response to neoplasm-elaborated proteins may be the cause of these syndromes. Additionally, their manifestation may signal the presence of an occult neoplasm, potentially at an earlier stage of disease thereby leading to a better clinical outcome. Constitutional signs may include fever, night sweats, anorexia and cachexia. Clinical course is usually progressive. Prognosis is variable depending on the effective treatment of the underlying neoplasm.


name: Low-frequency sensorineural hearing impairment

description: A form of sensorineural hearing impairment that affects primarily the lower frequencies.


name: PMM2-congenital disorder of glycosylation

description: The most frequent form of congenital disorder of N-glycosylation and is characterized by cerebellar dysfunction, abnormal fat distribution, inverted nipples, strabismus and hypotonia. 3 forms of PMM2-CDG can be distinguished: the infantile multisystem type, late-infantile and childhood ataxia-intellectual disability type (3-10 yrs old), and the adult stable disability type. Infants usually develop ataxia, psychomotor delay and extraneurological manifestations including failure to thrive, enteropathy, hepatic dysfunction, coagulation abnormalities and cardiac and renal involvement. The phenotype is however highly variable and ranges from infants who die in the first year of life to mildly involved adults.


name: S38A9_HUMAN Neutral amino acid transporter 9 (sprot)

description: A neutral amino acid transporter 9 that is encoded in the genome of human.


2-oleoyl glycerol

A 2-monoglyceride where the acyl group is (9Z)-octadecenoyl.


cerebral atherosclerosis

description: Atherosclerosis of the cerebral vasculature.


CETN1_HUMAN Centrin-1 (sprot)

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


name: ZN622_HUMAN Cytoplasmic 60S subunit biogenesis factor ZNF622 (sprot)

description: A cytoplasmic 60S subunit biogenesis factor ZNF622 that is encoded in the genome of human.


name: FOXN3_HUMAN Forkhead box protein N3 (sprot)

description: A forkhead box protein N3 that is encoded in the genome of human.


name: ISCU_HUMAN Iron-sulfur cluster assembly enzyme ISCU (sprot)

description: An iron-sulfur cluster assembly enzyme ISCU that is encoded in the genome of human.


paralytic ileus

description: An ileus caused by abdominal or pelvic surgery, infections, disorders that affect the muscles and nerves, and medications. Signs and symptoms include those of intestinal obstruction.


CUBN_HUMAN Cubilin (sprot)

A cubilin that is encoded in the genome of human.


name: TFPI1_HUMAN Tissue factor pathway inhibitor (sprot)

description: A tissue factor pathway inhibitor that is encoded in the genome of human.


name: ARHGJ_HUMAN Rho guanine nucleotide exchange factor 19 (sprot)

description: A Rho guanine nucleotide exchange factor 19 that is encoded in the genome of human.


name: MGAT3_HUMAN Beta-1,4-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase (sprot)

description: A beta-1,4-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase that is encoded in the genome of human.


name: UBE2Z_HUMAN Ubiquitin-conjugating enzyme E2 Z (sprot)

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


isoxicam

A monocarboxylic acid amide that is piroxicam in which the pyrid-2-yl group is replaced by a 5-methyl-1,2-oxazol-3-yl group. A non-steroidal anti-inflammatory drug, it was withdrawn from the market in the 1980s following its association with cases of Stevens-Johnson syndrome.


PYRAZINOIC ACID

The parent compound of the class of pyrazinecarboxylic acids, that is pyrazine bearing a single carboxy substituent. The active metabolite of the antitubercular drug pyrazinamide.


name: CCDB1_HUMAN Cyclin-D1-binding protein 1 (sprot)

description: A cyclin-D1-binding protein 1 that is encoded in the genome of human.


name: ZNFX1_HUMAN NFX1-type zinc finger-containing protein 1 (sprot)

description: An NFX1-type zinc finger-containing protein 1 that is encoded in the genome of human.


name: OCAD1_HUMAN OCIA domain-containing protein 1 (sprot)

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


estramustine phosphate

A steroid phosphate which is the 17-O-phospho derivative of estramustine.


name: HOME2_HUMAN Homer protein homolog 2 (sprot)

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


hexachlorophene

An organochlorine compound that is diphenylmethane in which each of the phenyl groups is substituted by chlorines at positions 2, 3, and 5, and by a hydroxy group at position 6. An antiseptic that is effective against Gram-positive organisms, it is used in soaps and creams for the treatment of various skin disorders. It is also used in agriculture as an acaricide and fungicide, but is not approved for such use within the European Union.


Cerebral hypoplasia

description: Underdevelopment of the cerebrum.


Hypogeusia

description: A decreased ability to perceive flavor.


idiopathic interstitial pneumonia

description: A class of diffuse lung diseases that typically affect the pulmonary interstitium, although some also have a component affecting the airways (for instance, Cryptogenic organizing pneumonitis).


name: G37L1_HUMAN G-protein coupled receptor 37-like 1 (sprot)

description: A G-protein coupled receptor 37-like 1 that is encoded in the genome of human.


name: FRS3_HUMAN Fibroblast growth factor receptor substrate 3 (sprot)

description: A fibroblast growth factor receptor substrate 3 that is encoded in the genome of human.


name: MICU2_HUMAN Calcium uptake protein 2, mitochondrial (sprot)

description: A calcium uptake protein 2, mitochondrial that is encoded in the genome of human.


name: ZNF16_HUMAN Zinc finger protein 16 (sprot)

description: A zinc finger protein 16 that is encoded in the genome of human.


INCA1_HUMAN Protein INCA1 (sprot)

A protein INCA1 that is encoded in the genome of human.


ANO9_HUMAN Anoctamin-9 (sprot)

An anoctamin-9 that is encoded in the genome of human.


name: CTTB2_HUMAN Cortactin-binding protein 2 (sprot)

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


name: PUS7_HUMAN Pseudouridylate synthase 7 homolog (sprot)

description: A pseudouridylate synthase 7 that is encoded in the genome of human.


name: MMSA_HUMAN Methylmalonate-semialdehyde/malonate-semialdehyde dehydrogenase [acylating], mitochondrial (sprot)

description: A methylmalonate-semialdehyde/malonate-semialdehyde dehydrogenase [acylating], mitochondrial that is encoded in the genome of human.


name: MYBPP_HUMAN MYCBP-associated protein (sprot)

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


CHLOROACETIC ACID

A chlorocarboxylic acid that is acetic acid carrying a 2-chloro substituent.


ramiprilat

A dipeptide that is the active metabolite of ramipril. An angiotensin-converting enzyme (ACE) inhibitor, used to treat high blood pressure and congestive heart failure.


myomatous neoplasm

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


name: M4K3_HUMAN Mitogen-activated protein kinase kinase kinase kinase 3 (sprot)

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


combined lung carcinoma

description: A lung carcinoma characterized by the presence of large or small neuroendocrine carcinoma cells in combination with malignant glandular or squamous epithelial cells.


prostate squamous cell carcinoma

description: An invasive prostate carcinoma characterized by the presence of squamous differentiation of the malignant cellular infiltrate. There is no evidence of glandular differentiation.


name: OASL_HUMAN 2'-5'-oligoadenylate synthase-like protein (sprot)

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


Ventriculomegaly

description: An increase in size of the ventricular system of the brain.


tuberculoma

description: A tumor-like mass resulting from the enlargement of a tuberculous lesion.


tigilanol tiglate

A diterpenoid natural product isolated from the kernels of the Australian blushwood tree (Fontainea picrosperma). It is approved as a veterinary pharmaceutical for the treatment of non-metastatic and non-resectable canine mast cell tumours.


name: ITPR3_HUMAN Inositol 1,4,5-trisphosphate receptor type 3 (sprot)

description: An inositol 1,4,5-trisphosphate receptor type 3 that is encoded in the genome of human.


Alzheimer disease 12

description: An Alzheimer's disease that is characterized by an associated with variation in the region 8p12-q22.


name: SPNXA_HUMAN Sperm protein associated with the nucleus on the X chromosome A (sprot)

description: A sperm protein associated with the nucleus on the X chromosome A that is encoded in the genome of human.


name: LUC7L_HUMAN Putative RNA-binding protein Luc7-like 1 (sprot)

description: A putative RNA-binding protein Luc7-like 1 that is encoded in the genome of human.


name: EXD2_HUMAN Exonuclease 3'-5' domain-containing protein 2 (sprot)

description: An exonuclease 3'-5' domain-containing protein 2 that is encoded in the genome of human.


name: FXR2_HUMAN RNA-binding protein FXR2 (sprot)

description: An RNA-binding protein FXR2 that is encoded in the genome of human.


pristane

A norterpene that is an acyclic saturated hydrocarbon derived from phytane by loss of its C-16 terminal methyl group.


familial amyloid neuropathy

description: A rare genetic systemic disease characterized by adult onset, progressive sensorimotor and autonomic neuropathy and infiltrative cardiomyopathy. Neurological involvement usually starts with sensory loss in the extremities and progresses with motor neuropathy. Cardiomyopathy presents with rhythm abnormalities and heart failure. The disease also frequently manifests with a range of additional clinical signs and symptoms due to associated ocular, renal, central nervous system and gastrointestinal involvement.


name: ACAD9_HUMAN Complex I assembly factor ACAD9, mitochondrial (sprot)

description: A complex I assembly factor ACAD9, mitochondrial that is encoded in the genome of human.


picolinamide

A  pyridinecarboxamide that is the  monocarboxylic acid amide derivative of picolinic acid.


enterotoxemia

description: Disease caused by the liberation of exotoxins of clostridium perfringens in the intestines of sheep, goats, cattle, foals, and piglets. Type B enterotoxemia in lambs is lamb dysentery; type C enterotoxemia in mature sheep produces 'struck', and in calves, lambs and piglets it produces hemorrhagic enterotoxemia; type D enterotoxemia in sheep and goats is pulpy-kidney disease or overeating disease.


Axillary lymphadenopathy

description: Enlarged lymph node located in the axillary region (armpit).


name: GAS7_HUMAN Growth arrest-specific protein 7 (sprot)

description: A growth arrest-specific protein 7 that is encoded in the genome of human.


ovarian mixed germ cell neoplasm

description: An ovarian malignant germ cell tumor characterized by the presence of at least two different germ cell components. At least one of the germ cell components is primitive. The most common combination of germ cell elements is dysgerminoma and yolk sac tumor.


name: A1AG2_HUMAN Alpha-1-acid glycoprotein 2 (sprot)

description: An alpha-1-acid glycoprotein 2 that is encoded in the genome of human.


name: RGS19_HUMAN Regulator of G-protein signaling 19 (sprot)

description: A regulator of G-protein signaling 19 that is encoded in the genome of human.


name: FATE1_HUMAN Fetal and adult testis-expressed transcript protein (sprot)

description: A fetal and adult testis-expressed transcript protein that is encoded in the genome of human.


peliosis hepatis

description: A vascular disease of the liver characterized by the occurrence of multiple blood-filled cysts or cavities. The cysts are lined with endothelial cells; the cavities lined with hepatic parenchymal cells (hepatocytes). Peliosis hepatis has been associated with use of anabolic steroids (anabolic agents) and certain drugs.


name: LONF3_HUMAN LON peptidase N-terminal domain and RING finger protein 3 (sprot)

description: A LON peptidase N-terminal domain and RING finger protein 3 that is encoded in the genome of human.


name: PANK4_HUMAN 4'-phosphopantetheine phosphatase (sprot)

description: A 4'-phosphopantetheine phosphatase that is encoded in the genome of human.


name: RPAB1_HUMAN DNA-directed RNA polymerases I, II, and III subunit RPABC1 (sprot)

description: A DNA-directed RNA polymerases I, II, and III subunit RPABC1 that is encoded in the genome of human.


Increased muscle lipid content

description: An abnormal accumulation of lipids in skeletal muscle.


name: PPP6_HUMAN Serine/threonine-protein phosphatase 6 catalytic subunit (sprot)

description: A serine/threonine-protein phosphatase 6 catalytic subunit that is encoded in the genome of human.


name: MED17_HUMAN Mediator of RNA polymerase II transcription subunit 17 (sprot)

description: A mediator of RNA polymerase II transcription subunit 17 that is encoded in the genome of human.


DESP_HUMAN Desmoplakin (sprot)

A desmoplakin that is encoded in the genome of human.


hypertensive retinopathy

description: Retinopathy due to hypertension.


name: GCYA1_HUMAN Guanylate cyclase soluble subunit alpha-1 (sprot)

description: A guanylate cyclase soluble subunit alpha-1 that is encoded in the genome of human.


cholera

description: Cholera is an infectious disease, caused by intestinal infection with Vibrio cholerae, characterized by massive watery diarrhea and severe dehydration that can lead to shock and death if left untreated.


name: LGR6_HUMAN Leucine-rich repeat-containing G-protein coupled receptor 6 (sprot)

description: A leucine-rich repeat-containing G-protein coupled receptor 6 that is encoded in the genome of human.


GRAM_HUMAN Granzyme M (sprot)

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


FCL_HUMAN GDP-L-fucose synthase (sprot)

A GDP-L-fucose synthetase that is encoded in the genome of human.


name: ONEC2_HUMAN One cut domain family member 2 (sprot)

description: An one cut domain family member 2 that is encoded in the genome of human.


name: KDM8_HUMAN Bifunctional peptidase and arginyl-hydroxylase JMJD5 (sprot)

description: A bifunctional peptidase and arginyl-hydroxylase JMJD5 that is encoded in the genome of human.


name: SPRE_HUMAN Sepiapterin reductase (sprot)

description: A sepiapterin reductase that is encoded in the genome of human.


TEN2_HUMAN Teneurin-2 (sprot)

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


inherited obesity

description: Abnormally low body weight.


ECONAZOLE NITRATE

A racemate composed of equimolar amounts of (R)- and (S)-econazole nitrate. Used to treat skin infections such as athlete's foot, jock itch, ringworm and other fungal skin infections.


name: RUSD4_HUMAN Pseudouridylate synthase RPUSD4, mitochondrial (sprot)

description: A pseudouridylate synthase RPUSD4, mitochondrial that is encoded in the genome of human.


name: NNMT_HUMAN Nicotinamide N-methyltransferase (sprot)

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


TICRR_HUMAN Treslin (sprot)

A treslin that is encoded in the genome of human.


hyperamylasemia

description: Abnormally high level of amylase in the blood.


DB114_HUMAN Beta-defensin 114 (sprot)

A beta-defensin 114 that is encoded in the genome of human.


DB129_HUMAN Beta-defensin 129 (sprot)

A beta-defensin 129 that is encoded in the genome of human.


TECT3_HUMAN Tectonic-3 (sprot)

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


name: ACAP2_HUMAN Arf-GAP with coiled-coil, ANK repeat and PH domain-containing protein 2 (sprot)

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


name: BIN2_HUMAN Bridging integrator 2 (sprot)

description: A bridging integrator 2 that is encoded in the genome of human.


name: ODR4_HUMAN Protein odr-4 homolog (sprot)

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


dysplasia of cervix

description: Abnormal development of immature squamous epithelial cells of the uterine cervix, a term used to describe premalignant cytological changes in the cervical epithelium. These atypical cells do not penetrate the epithelial basement membrane.


EHF_HUMAN ETS homologous factor (sprot)

An ETS homologous factor that is encoded in the genome of human.


pellagra

description: Pellagra is a nutritional disorder caused by a deficiency in niacin (vitamin B3) or its precursor (tryptophan) that is mainly observed in Asia and Africa where it is generally due to poor nutrition. It is characterized by dermatitis (symmetrical photodistributed erythema that may be accompanied by vesicles and bullae, and that develops into hyperkeratotic and hyperpigmented skin), gastrointestinal symptoms (diarrhea), and neuropsychiatric disorders (dementia). It can be life-threatening without a correct management.


BROMOBENZENE

The simplest member of the class of bromobenzenes, that is benzene in which a single hydrogen has been substituted by a bromine. A liquid at room temperature (m.p. -30degreeC; b.p.760 156degreeC), it is used as a solvent, particularly for large-scale crystallisations, and for the introduction of phenyl groups in organic synthesis.


HCFC2_HUMAN Host cell factor 2 (sprot)

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


name: MARC2_HUMAN Mitochondrial amidoxime reducing component 2 (sprot)

description: A mitochondrial amidoxime reducing component 2 that is encoded in the genome of human.


XPO7_HUMAN Exportin-7 (sprot)

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


name: RBP17_HUMAN Ran-binding protein 17 (sprot)

description: A Ran-binding protein 17 that is encoded in the genome of human.


primary cutis verticis gyrata

description: Cutis verticis gyrata (CVG) is a progressive cutaneous disorder predominantly affecting males and characterized by hypertrophy and thickening of the skin of the scalp forming convoluted furrows with deep, tender, and cerebriform cutaneous folds. Hair is usually normal in the furrows and sparse on the folds. CG can be isolated (essential CVG) or associated with other abnormalities such as intellectual deficit, epilepsy, cataract, blindness, and deafness (non essential CVG).


cystic hygroma

description: A benign lymphatic neoplasm usually arising from the neck and characterized by cystic dilation of the lymphatic vessels.


name: TDRD1_HUMAN Tudor domain-containing protein 1 (sprot)

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


name: ZFN2A_HUMAN AN1-type zinc finger protein 2A (sprot)

description: An AN1-type zinc finger protein 2A that is encoded in the genome of human.


Recurrent pancreatitis

description: A recurrent form of pancreatitis.


ENL_HUMAN Protein ENL (sprot)

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


LIPG_HUMAN Endothelial lipase (sprot)

An endothelial lipase that is encoded in the genome of human.


ANO10_HUMAN Anoctamin-10 (sprot)

An anoctamin-10 that is encoded in the genome of human.


name: APBB2_HUMAN Amyloid beta precursor protein binding family B member 2 (sprot)

description: An amyloid beta precursor protein binding family B member 2 that is encoded in the genome of human.


dithioerythritol

The meso-diastereomer of 1,4-dimercaptobutane-2,3-diol; a sulfur-containing sugar derived from the monosaccharide erythrose; and an epimer of dithiothreitol.


name: PSB3_HUMAN Proteasome subunit beta type-3 (sprot)

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


name: TAF8_HUMAN Transcription initiation factor TFIID subunit 8 (sprot)

description: A transcription initiation factor TFIID subunit 8 that is encoded in the genome of human.


neurofibroma

description: An intraneural or extraneural neoplasm arising from nerve tissues and neural sheaths. It is composed of perineurial-like fibroblasts and Schwann cells. It usually presents as a localized cutaneous lesion and less often as a circumscribed peripheral nerve mass. Patients with neurofibromatosis type 1 present with multiple masses. Neurofibromas which arise from major nerves and plexiform neurofibromas are precursor lesions to malignant peripheral nerve sheath tumors.


name: T132D_HUMAN Transmembrane protein 132D (sprot)

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


immature teratoma

description: A teratoma composed of immature, fetal-type tissues.


name: NU1M_HUMAN NADH-ubiquinone oxidoreductase chain 1 (sprot)

description: An NADH-ubiquinone oxidoreductase chain 1 that is encoded in the genome of human.


name: monoclonal gammopathy of uncertain significance

description: A condition characterized by the presence of a monoclonal gammopathy (MG) in which the clonal mass has not reached a predefined state in which the condition is considered malignant. Up to 25% of cases of monoclonal gammopathy of undetermined significance (MGUS) progress to a B-cell malignancy or myeloma. MGUS may occur in conjunction with various carcinomas, chronic inflammatory and infectious conditions, and other diseases.


name: DHRS2_HUMAN Dehydrogenase/reductase SDR family member 2, mitochondrial (sprot)

description: A dehydrogenase/reductase SDR family member 2, mitochondrial that is encoded in the genome of human.


ovarian serous cystadenocarcinoma

description: A malignant serous cystic epithelial neoplasm arising from the ovary. It is characterized by the presence of glandular, papillary, or solid structures. Psammoma bodies may be present. In well differentiated cases the malignant epithelial cells resemble the cells of fallopian tube epithelium. In poorly differentiated cases the malignant epithelial cells show anaplastic features.


name: ZMAT3_HUMAN Zinc finger matrin-type protein 3 (sprot)

description: A zinc finger matrin-type protein 3 that is encoded in the genome of human.


name: RT12_HUMAN Small ribosomal subunit protein uS12m (sprot)

description: A small ribosomal subunit protein uS12m that is encoded in the genome of human.


name: MED21_HUMAN Mediator of RNA polymerase II transcription subunit 21 (sprot)

description: A mediator of RNA polymerase II transcription subunit 21 that is encoded in the genome of human.


chronic eosinophilic pneumonia

description: Chronic inflammatory disorder of the lungs characterized by the presence of eosinophils in the interalveolar septa and alveolar spaces and peripheral blood eosinophilia. Chest x-rays reveal peripheral infiltrates. Approximately half of the patients have history of asthma or atopic disease. Signs and symptoms include fever, dyspnea, cough, and weight loss. Following treatment with corticosteroids, the eosinophilic infiltrates in the lungs disappear, resulting in dramatic clinical improvement.


Confusion

description: Lack of clarity and coherence of thought, perception, understanding, or action.


GLYG_HUMAN Glycogenin-1 (sprot)

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


TANDOSPIRONE CITRATE

A citrate salt of tandospirone , comprising equimolar amounts of citric acid and tandospirone. It is an anxiolytic drug used in the treatment of anxiety disorders.


SHRM3_HUMAN Protein Shroom3 (sprot)

A protein Shroom3 that is encoded in the genome of human.


hemophilic arthropathy

description: A form of arthritis that affects hemophiliacs, which is characterized by bleeding into the joint space.


name: TSPYA_HUMAN Testis-specific Y-encoded protein 10 (sprot)

description: A testis-specific Y-encoded protein 10 that is encoded in the genome of human.


XALIPRODEN

A tetrahydropyridine that is 1,2,3,6-tetrahydropyridine which is substituted on the nitrogen by a 2-(2-naphthyl)ethyl group and at position 4 by a m-trifluoromethylphenyl group.


name: NPDC1_HUMAN Neural proliferation differentiation and control protein 1 (sprot)

description: A neural proliferation differentiation and control protein 1 that is encoded in the genome of human.


desquamative interstitial pneumonia

description: A rare idiopathic interstitial pneumonia characterized by accumulation of macrophages in alveolar spaces and interstitial inflammation. It usually occurs in smokers. Some patients develop progressive interstitial lung fibrosis.


name: HEYL_HUMAN Hairy/enhancer-of-split related with YRPW motif-like protein (sprot)

description: A hairy/enhancer-of-split related with YRPW motif-like protein that is encoded in the genome of human.


Increased circulating renin level

description: An increased level of renin in the blood.


name: UBP38_HUMAN Ubiquitin carboxyl-terminal hydrolase 38 (sprot)

description: A ubiquitin carboxyl-terminal hydrolase 38 that is encoded in the genome of human.


chloroxine

A monohydroxyquinoline that is quinolin-8-ol in which the hydrogens at positions 5 and 7 have been substituted by chlorine. A synthetic antibacterial prepared by chlorination of quinolin-8-ol, it is used for the treatment of dandruff and seborrhoeic dermatitis of the scalp.


name: OTUD3_HUMAN OTU domain-containing protein 3 (sprot)

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


squamous cell carcinoma of colon

description: A squamous cell carcinoma that involves the colon.


name: K2C6B_HUMAN Keratin, type II cytoskeletal 6B (sprot)

description: A keratin, type II cytoskeletal 6B that is encoded in the genome of human.


name: OSBL2_HUMAN Oxysterol-binding protein-related protein 2 (sprot)

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


name: ELMD1_HUMAN ELMO domain-containing protein 1 (sprot)

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


name: ARL3_HUMAN ADP-ribosylation factor-like protein 3 (sprot)

description: An ADP-ribosylation factor-like protein 3 that is encoded in the genome of human.


PLXA3_HUMAN Plexin-A3 (sprot)

A plexin-A3 that is encoded in the genome of human.


NNAT_HUMAN Neuronatin (sprot)

A neuronatin that is encoded in the genome of human.


eperisone

A racemate that is an equimolar mixture of (R)- and (S)-eperisone. It is used (as the hydrochloride salt) as a muscle relaxant for the symptomatic treatment of muscle spasm and spasticity.


name: HS74L_HUMAN Heat shock 70 kDa protein 4L (sprot)

description: A heat shock 70 kDa protein 4L that is encoded in the genome of human.


name: OSTC_HUMAN Oligosaccharyltransferase complex subunit OSTC (sprot)

description: An oligosaccharyltransferase complex subunit OSTC that is encoded in the genome of human.


name: NNRE_HUMAN NAD(P)H-hydrate epimerase (sprot)

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


Acute infectious pneumonia

description: Acute inflammation of the lung due to an infection.


name: MSS4_HUMAN Guanine nucleotide exchange factor MSS4 (sprot)

description: A guanine nucleotide exchange factor MSS4 that is encoded in the genome of human.


allergic respiratory disease

description: A respiratory system disease with a basis in a pathological type I hypersensitivity reaction.


drug-resistant tuberculosis

description: Tuberculosis disease caused by Mycobacterium tuberculosis isolate that is resistant to one or more of the antitubercular medications.


name: DDX4_HUMAN Probable ATP-dependent RNA helicase DDX4 (sprot)

description: A probable ATP-dependent RNA helicase DDX4 that is encoded in the genome of human.


lymph node tuberculosis

description: Tuberculosis of the lymph node.


ISOCONAZOLE

A member of the class of imidazoles that carries a 2-[(2,6-dichlorobenzyl)oxy]-2-(2,4-dichlorophenyl)ethyl group at position 1.


name: MAGA4_HUMAN Melanoma-associated antigen 4 (sprot)

description: A melanoma-associated antigen 4 that is encoded in the genome of human.


familial amyotrophic lateral sclerosis

description: An instance of amyotrophic lateral sclerosis that is caused by an inherited modification of the individual's genome.


name: reversible cerebral vasoconstriction syndrome

description: Reversible cerebral vasoconstriction syndrome (RCVS) is an infrequent cerebrovascular disorder characterized by severe headaches with or without focal neurological deficits or seizures, and a reversible segmental and multifocal vasoconstriction of cerebral arteries.


PCD15_HUMAN Protocadherin-15 (sprot)

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


name: MCA3_HUMAN Eukaryotic translation elongation factor 1 epsilon-1 (sprot)

description: A eukaryotic translation elongation factor 1 epsilon-1 that is encoded in the genome of human.


hereditary gingival fibromatosis

description: Hereditary gingival fibromatosis (HGF) is a rare benign, slowly progressive, non-inflammatory fibrous hyperplasia of the maxillary and mandibular gingivae that generally occurs with the eruption of the permanent (or more rarely the primary) dentition or even at birth. It presents as a localized or generalized, smooth or nodular overgrowth of the gingival tissues of varying severity. It can be isolated, with autosomal dominant inheritance, or as part of a syndrome.


name: CPSF4_HUMAN Cleavage and polyadenylation specificity factor subunit 4 (sprot)

description: A cleavage and polyadenylation specificity factor subunit 4 that is encoded in the genome of human.


cerebrotendinous xanthomatosis

description: Cerebrotendinous xanthomatosis (CTX) is an anomaly of bile acid synthesis characterized by neonatal cholestasis, childhood-onset cataract, adolescent to young adult-onset tendon xanthomata, and brain xanthomata with adult-onset neurologic dysfunction.


DCTN2_HUMAN Dynactin subunit 2 (sprot)

A dynactin subunit 2 that is encoded in the genome of human.


developmental dysplasia of the hip

description: A spectrum of hip abnormalities commonly presenting in infancy involving the relationship between the femoral head and the acetabulum and that includes subluxation or dislocation at rest or upon provocation.


name: PHF23_HUMAN PHD finger protein 23 (sprot)

description: A PHD finger protein 23 that is encoded in the genome of human.


SUNCT syndrome

description: SUNCT syndrome (Short-lasting Unilateral Neuralgiform headache attacks with Conjunctival injection and Tearing) is a primary headache disorder characterized by unilateral trigeminal pain that occurs in association with ipsilateral cranial autonomic symptoms (conjunctival injection and tearing).


name: LIRA3_HUMAN Leukocyte immunoglobulin-like receptor subfamily A member 3 (sprot)

description: A leukocyte immunoglobulin-like receptor subfamily A member 3 that is encoded in the genome of human.


acute disseminated encephalomyelitis

description: Acute disseminated encephalomyelitis (ADEM) is a demyelinating disorder of the central nervous system.


name: PF2R_HUMAN Prostaglandin F2-alpha receptor (sprot)

description: A prostaglandin F2-alpha receptor that is encoded in the genome of human.


name: C1QT2_HUMAN Complement C1q tumor necrosis factor-related protein 2 (sprot)

description: A complement C1q tumor necrosis factor-related protein 2 that is encoded in the genome of human.


name: ABHD2_HUMAN Monoacylglycerol lipase ABHD2 (sprot)

description: A monoacylglycerol lipase ABHD2 that is encoded in the genome of human.


chorea-acanthocytosis

description: Chorea-acanthocytosis (ChAc) is a form of neuroacanthocytosis and is characterized clinically by a Huntington disease-like phenotype with progressive neurological symptoms including movement disorders, psychiatric manifestations and cognitive disturbances.


name: REEP6_HUMAN Receptor expression-enhancing protein 6 (sprot)

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


testicular seminoma

description: A malignant germ cell tumor arising from the testis. It is believed that it is derived from the sexually undifferentiated embryonic gonad. Treatment with radiotherapy is highly successful when the tumor is diagnosed in localized stages, which represents the majority of presentations of seminoma.


spleen angiosarcoma

description: A malignant vascular neoplasm arising from the spleen.


dacryocystitis

description: Inflammation of the lacrimal sac.


name: NDUB6_HUMAN NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 6 (sprot)

description: An NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 6 that is encoded in the genome of human.


name: FGF16_HUMAN Fibroblast growth factor 16 (sprot)

description: A fibroblast growth factor 16 that is encoded in the genome of human.


name: MED11_HUMAN Mediator of RNA polymerase II transcription subunit 11 (sprot)

description: A mediator of RNA polymerase II transcription subunit 11 that is encoded in the genome of human.


name: PG12B_HUMAN Group XIIB secretory phospholipase A2-like protein (sprot)

description: A group XIIB secretory phospholipase A2-like protein that is encoded in the genome of human.


desonide

Triamcinolone acetonide with hydrogen instead of the fluorine substituent at position 9. A corticosteroid anti-inflammatory, it is used topically as a cream, ointment or lotion for the treatment of various skin disorders.


humoral hypercalcemia of malignancy

description: Hypercalcemia generally develops as a late complication of malignancy; its appearance has grave prognostic significance. It remains unclear, however, whether death is associated with hypercalcemic crisis (uncontrolled or recurrent progressive hypercalcemia) or with advanced disease. Symptoms include central nervous system impairment such as delirium with prominent symptoms of personality change, cognitive dysfunction, disorientation, incoherent speech, and psychotic symptoms such as hallucinations and delusions, smooth muscle hypotonicity, and altered cardiovascular function.


name: HECD1_HUMAN E3 ubiquitin-protein ligase HECTD1 (sprot)

description: An E3 ubiquitin-protein ligase HECTD1 that is encoded in the genome of human.


ovarian endometrioid adenocarcinoma

description: An endometrioid adenocarcinoma arising from the ovary. It comprises 10% to 25% of all primary ovarian carcinomas. Grossly, endometrioid carcinoma may present as a cystic or solid mass. Microscopically, the tumor greatly resembles the appearance of the ordinary type of endometrial adenocarcinoma. As a group, endometrioid carcinoma has a prognosis twice as good as that of serous or mucinous carcinoma.


Renal phosphate wasting

description: High urine phosphate in the presence of hypophosphatemia.


name: MYPT2_HUMAN Protein phosphatase 1 regulatory subunit 12B (sprot)

description: A protein phosphatase 1 regulatory subunit 12B that is encoded in the genome of human.


Bacterial encephalitis

description: Encephalitis caused by bacterial infection.


name: NALP5_HUMAN NACHT, LRR and PYD domains-containing protein 5 (sprot)

description: A NACHT, LRR and PYD domains-containing protein 5 that is encoded in the genome of human.


name: polyarticular juvenile idiopathic arthritis


hereditary coproporphyria

description: A form of acute hepatic porphyria characterized by the occurrence of neuro-visceral attacks and, more rarely, by the presence of cutaneous lesions.


placental insufficiency

description: Failure of the placenta to deliver an adequate supply of nutrients and oxygen to the fetus.


thiabendazole

A member of the class of benzimidazoles carrying a 1,3-thiazol-4-yl substituent at position 2. A mainly post-harvest fungicide used to control a wide range of diseases including Aspergillus, Botrytis, Cladosporium and Fusarium.


PYGO2_HUMAN Pygopus homolog 2 (sprot)

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


name: WDR48_HUMAN WD repeat-containing protein 48 (sprot)

description: A WD repeat-containing protein 48 that is encoded in the genome of human.


SULCONAZOLE

A member of the class of imidazoles that is 1-ethyl-1H-imidazole in which one of the hydrogens of the methyl group is replaced by a (4-chlorobenzyl)sulfanediyl group while a second is replaced by a 2,4-dichlorophenyl group.


name: ITM2C_HUMAN Integral membrane protein 2C (sprot)

description: An integral membrane protein 2C that is encoded in the genome of human.


name: SHIP2_HUMAN Phosphatidylinositol 3,4,5-trisphosphate 5-phosphatase 2 (sprot)

description: A phosphatidylinositol 3,4,5-trisphosphate 5-phosphatase 2 that is encoded in the genome of human.


name: GLO2_HUMAN Hydroxyacylglutathione hydrolase, mitochondrial (sprot)

description: A hydroxyacylglutathione hydrolase that is encoded in the genome of human.


name: PA1B2_HUMAN Platelet-activating factor acetylhydrolase IB subunit alpha2 (sprot)

description: A platelet-activating factor acetylhydrolase IB subunit alpha2 that is encoded in the genome of human.


name: PRRT3_HUMAN Proline-rich transmembrane protein 3 (sprot)

description: A proline-rich transmembrane protein 3 that is encoded in the genome of human.


Crystalluria

description: The presence of crystals in the urine.


name: GDC_HUMAN Solute carrier family 25 member 16 (sprot)

description: A solute carrier family 25 member 16 that is encoded in the genome of human.


intestinal tuberculosis

description: A tuberculosis that involves the intestine.


meglutol

A dicarboxylic acid that is glutaric acid in which one of the two hydrogens at position 3 is substituted by a hydroxy group, while the other is substituted by a methyl group. It has been found to accumulate in urine of patients suffering from HMG-CoA lyase (3-hydroxy-3-methylglutaryl-CoA lyase, EC 4.1.3.4) deficiency. It occurs as a plant metabolite in Crotalaria dura.


flavanone

The simplest member of the class of  flavanones  that consists of flavan bearing an oxo substituent at position 4.


name: RS32_HUMAN Small ribosomal subunit protein eS32 (sprot)

description: A small ribosomal subunit protein eS32 that is encoded in the genome of human.


name: JMJD4_HUMAN 2-oxoglutarate and iron-dependent oxygenase JMJD4 (sprot)

description: A 2-oxoglutarate and iron-dependent oxygenase JMJD4 that is encoded in the genome of human.


name: ovarian large-cell neuroendocrine carcinoma

description: A carcinoma that arises from the ovary and is characterized by the presence of large malignant cells exhibiting neuroendocrine differentiation. The prognosis is poor.


name: ATOH8_HUMAN Transcription factor ATOH8 (sprot)

description: A transcription factor ATOH8 that is encoded in the genome of human.


trimethyltin

An organotin compound that consists of stannane in which three of the four hydrogens are substituted by methyl groups.


PIWL2_HUMAN Piwi-like protein 2 (sprot)

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


NECT1_HUMAN Nectin-1 (sprot)

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


Colonic inertia

description: The inability of the colon to modify stool to an acceptable consistency and move the stool from the cecum to the rectosigmoid area at least once every three days.


name: SMYD4_HUMAN SET and MYND domain-containing protein 4 (sprot)

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


name: MTAP_HUMAN S-methyl-5'-thioadenosine phosphorylase (sprot)

description: An S-methyl-5'-thioadenosine phosphorylase that is encoded in the genome of human.


PHTF2_HUMAN Protein PHTF2 (sprot)

A protein PHTF2 that is encoded in the genome of human.


afamelanotide

A polypeptide comprising of 13 amino acids which is an analogue of alpha-melanocyte stimulating hormone. It is approved as a dermatologic drug for the prevention of phototoxicity in adult patients with erythropoietic protoporphyria.


oxamniquine

A racemate comprising equimolar amounts of (R)- and (S)-oxamniquine. An anthelmintic, it is administered orally for the treatment of schistomiasis caused by Schistosoma mansoni (but not by other Schistosoma species); intramuscular administration is no longer used as it causes severe pain at the injection site.


name: HXD8_HUMAN Homeobox protein Hox-D8 (sprot)

description: A homeobox protein Hox-D8 that is encoded in the genome of human.


phosphatidylcholine (O-18:1/20:4)

A 2-acyl-1-alkyl-sn-glycero-3-phosphocholine in which the acyl group contains 20 carbons and 4 double bonds while the alkyl group contains 18 carbons and 1 double bond.


name: IL36A_HUMAN Interleukin-36 alpha (sprot)

description: An interleukin-36 alpha that is encoded in the genome of human.


ACY1_HUMAN Aminoacylase-1 (sprot)

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


name: DPH3_HUMAN Diphthamide biosynthesis protein 3 (sprot)

description: A DPH3 that is encoded in the genome of human.


name: DPH5_HUMAN Diphthine methyl ester synthase (sprot)

description: A diphthine methyl ester synthase that is encoded in the genome of human.


climbazole

A racemate composed of equimolar amounts of (R)- and (S)-climbazole. It is a topically applied antifungal agent used to treat human fungal skin infections.


Am member of the class of imidazoles carrying piperidin-4-yl, 4-fluophenyl and 2-aminopyrimidin-4-yl substituents at posiitons 1, 4 and 5 respectively.


CEREVISTEROL

An ergostanoid that is (22E)-ergosta-7,22-diene substituted by hydroxy groups at positions 3, 5 and 6 (the 3beta,5alpha,6beta stereoisomer). It has been isolated from the fungus, Xylaria species.


ANO2_HUMAN Anoctamin-2 (sprot)

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


name: ARBK2_HUMAN G protein-coupled receptor kinase 3 (sprot)

description: A G protein-coupled receptor kinase 3 that is encoded in the genome of human.


name: ATRAP_HUMAN Type-1 angiotensin II receptor-associated protein (sprot)

description: A type-1 angiotensin II receptor-associated protein that is encoded in the genome of human.


TICN1_HUMAN Testican-1 (sprot)

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


name: ESAM_HUMAN Endothelial cell-selective adhesion molecule (sprot)

description: An endothelial cell-selective adhesion molecule that is encoded in the genome of human.


name: THEM4_HUMAN Acyl-coenzyme A thioesterase THEM4 (sprot)

description: An acyl-coenzyme A thioesterase THEM4 that is encoded in the genome of human.


Interface hepatitis

description: Inflammation of the liver characterized by a mononuclear cell infiltrate whereby portal inflammatory cells extend through the limiting plate between the portal tract and liver parenchyma.


name: ATP4A_HUMAN Potassium-transporting ATPase alpha chain 1 (sprot)

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


GLUTARATE

An alpha,omega-dicarboxylic acid that is a linear five-carbon dicarboxylic acid.


hypopyon

description: An accumulation of pus in the anterior chamber of the eye.


NDC1_HUMAN Nucleoporin NDC1 (sprot)

A nucleoporin NDC1 that is encoded in the genome of human.


S-methylcysteine

A cysteine derivative that is L-cysteine in which the hydrogen attached to the sulfur is replaced by a methyl group.


name: NTM1A_HUMAN N-terminal Xaa-Pro-Lys N-methyltransferase 1 (sprot)

description: A methyltransferase-like protein 11A that is encoded in the genome of human.


name: ZHANG_HUMAN CREB/ATF bZIP transcription factor (sprot)

description: A CREB/ATF bZIP transcription factor that is encoded in the genome of human.


TAGL3_HUMAN Transgelin-3 (sprot)

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


rhinoscleroma

description: A granulomatous disease caused by klebsiella rhinoscleromatis infection. Despite its name, this disease is not limited to the nose and nasopharynx but may affect any part of the respiratory tract, sometimes with extension to the lip and the skin.


AQP10_HUMAN Aquaporin-10 (sprot)

An aquaporin-10 that is encoded in the genome of human.


name: secondary hyperparathyroidism of renal origin


body dysmorphic disorder

description: Preoccupations with appearance or self-image causing significant distress or impairment in important areas of functioning.


name: LOXL4_HUMAN Lysyl oxidase homolog 4 (sprot)

description: A lysyl oxidase homolog 4 that is encoded in the genome of human.


canine histiocytic sarcoma

description: A malignant neoplasm that affects dogs, characterized by the presence of malignant cells with morphologic and immunophenotypic characteristics similar to those seen in mature histiocytes.


name: NRG4_HUMAN Pro-neuregulin-4, membrane-bound isoform (sprot)

description: A pro-neuregulin-4, membrane-bound isoform that is encoded in the genome of human.


hyperinsulinemic hypoglycemia

description: An inherited autosomal recessive syndrome characterized by the disorganized formation of new islets in the pancreas and congenital hyperinsulinism. It is due to focal hyperplasia of pancreatic islet cells budding off from the ductal structures and forming new islets of langerhans. Mutations in the islet cells involve the potassium channel gene kcnj11 or the atp-binding cassette transporter gene abcc8, both on chromosome 11.


mucopolysaccharidosis type 3A

description: A rare autosomal recessive lysosomal storage disease caused by deficiency of the enzyme heparan sulfate sulfatase. It is characterized by behavioral changes, sleep disturbances, mental developmental delays and seizures.


A pyrimidine ribonucleoside 5'-monophosphate having uracil as the nucleobase.


Moyamoya disease

description: Moyamoya disease (MMD) is a rare intracranial arteriopathy involving progressive stenosis of the cerebral vasculature located at the base of the brain causing transient ischemic attacks or strokes.


name: SRRM2_HUMAN Serine/arginine repetitive matrix protein 2 (sprot)

description: A serine/arginine repetitive matrix protein 2 that is encoded in the genome of human.


name: CNO6L_HUMAN CCR4-NOT transcription complex subunit 6-like (sprot)

description: A CCR4-NOT transcription complex subunit 6-like that is encoded in the genome of human.


name: OR5I1_HUMAN Olfactory receptor 5I1 (sprot)

description: An olfactory receptor 5I1 that is encoded in the genome of human.


A pyrimidine 2'-deoxyribonucleoside that is 2'-deoxycytidine having a cyano group in the 2'-position. It is the active metabolite of the anti-cancer drug, sapacitabine which is currently in clinical development for the treatment of hematologic malignancies and solid tumors.


SODIUM OXALATE

An organic sodium salt consisting of sodium and oxalate ions in a 2:1 ratio.


name: BNIP2_HUMAN BCL2/adenovirus E1B 19 kDa protein-interacting protein 2 (sprot)

description: A BCL2/adenovirus E1B 19 kDa protein-interacting protein 2 that is encoded in the genome of human.


Abnormal glucose homeostasis

description: Abnormality of glucose homeostasis.


lomefloxacin

A fluoroquinolone antibiotic, used (generally as the hydrochloride salt) to treat bacterial infections including bronchitis and urinary tract infections. It is also used to prevent urinary tract infections prior to surgery.


name: ABRX1_HUMAN BRCA1-A complex subunit Abraxas 1 (sprot)

description: A BRCA1-A complex subunit Abraxas 1 that is encoded in the genome of human.


WHIM syndrome

description: An autosomal dominant immunodeficiency syndrome caused by mutation(s) in the CXCR4 gene, encoding C-X-C chemokine receptor type 4. It is characterized by neutropenia, hypogammaglobulinemia, extensive human papillomavirus (HPV) infection, and myelokathexis.


Cutaneous amyloidosis

description: The presence of amyloid deposition in the superficial dermis.


familial hyperinsulinism

description: An instance of hyperinsulinism (disease) that is caused by an inherited modification of the individual's genome.


name: UB2L6_HUMAN Ubiquitin/ISG15-conjugating enzyme E2 L6 (sprot)

description: A ubiquitin/ISG15-conjugating enzyme E2 L6 that is encoded in the genome of human.


name: FXL18_HUMAN F-box/LRR-repeat protein 18 (sprot)

description: An F-box/LRR-repeat protein 18 that is encoded in the genome of human.


name: CRTC3_HUMAN CREB-regulated transcription coactivator 3 (sprot)

description: A CREB-regulated transcription coactivator 3 that is encoded in the genome of human.


name: GANP_HUMAN Germinal-center associated nuclear protein (sprot)

description: A germinal-center associated nuclear protein that is encoded in the genome of human.


testicular disorder

description: A non-neoplastic or neoplastic disorder affecting the testis. Representative examples include torsion, infarction, germ cell tumor, sex cord-stromal tumor, lymphoma, and leukemia.


Short nose

description: Distance from nasion to subnasale more than two standard deviations below the mean, or alternatively, an apparently decreased length from the nasal root to the nasal tip.


bladder sarcoma

description: A malignant mesenchymal cell neoplasm that affects the urinary bladder.


name: MAML3_HUMAN Mastermind-like protein 3 (sprot)

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


name: KCNT2_HUMAN Potassium channel subfamily T member 2 (sprot)

description: A potassium channel subfamily T member 2 that is encoded in the genome of human.


moracizine

A phenothiazine substituted on the nitrogen by a 3-(morpholin-4-yl)propanoyl group, and at position 2 by an (ethoxycarbonyl)amino group.


name: C1QL4_HUMAN Complement C1q-like protein 4 (sprot)

description: A complement C1q-like protein 4 that is encoded in the genome of human.


name: hyperammonemia due to N-acetylglutamate synthase deficiency

description: N-acetylglutamate synthase (NAGS) deficiency is a urea cycle disorder leading to hyperammonaemia.


name: MIF_HUMAN Macrophage migration inhibitory factor (sprot)

description: A macrophage migration inhibitory factor that is encoded in the genome of human.


name: PHC3_HUMAN Polyhomeotic-like protein 3 (sprot)

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


name: CC4L_HUMAN C-C motif chemokine 4-like (sprot)

description: A C-C motif chemokine 4-like that is encoded in the genome of human.


name: WASH2_HUMAN WAS protein family homolog 2 (sprot)

description: A WAS protein family homolog 2 that is encoded in the genome of human.


benzylideneacetone

An enone in which a phenyl ring is attached to the beta-carbon atom of but-3-en-2-one. Although both cis- and trans-isomers are possible for the alpha,beta-unsaturated ketone, only the trans-isomer is observed.


Aborted sudden cardiac death

description: Cardiac arrest that would have led to rapid and unexpected death had an intervention not taken place to prevent it.


tumor of salivary gland

description: A neoplasm (disease) that involves the saliva-secreting gland.


name: WEE2_HUMAN Wee1-like protein kinase 2 (sprot)

description: A Wee1-like protein kinase 2 that is encoded in the genome of human.


selexipag

A member of the class of pyrazines that is N-(methanesulfonyl)-2-{4-[(propan-2-yl)(pyrazin-2-yl)amino]butoxy}acetamide carrying two additional phenyl substituents at positions 5 and 6 on the pyrazine ring. An orphan drug used for the treatment of pulmonary arterial hypertension. It is a prodrug for ACT-333679 (the free carboxylic acid).


Stasis dermatitis

description: Stasis dermatitis commonly occurs in older age. It is caused by venous hypertension resulting from retrograde flow due to incompetent venous valves, valve destruction, or obstruction of the venous system. Further tissue changes arise from an inflammatory process mediated by metalloproteinases, which are up-regulated by ferric ion from extravasated red blood cells. Stasis dermatitis presents initially as poorly demarcated erythematous plaques of the lower legs bilaterally, classically involving the medial malleolus.


alcohol-related disorders

description: Disorders related to or resulting from abuse or mis-use of alcohol.


cefiderocol

A fourth-generation siderophore cephalosporin antibiotic having {1-[2-(2-chloro-3,4-dihydroxybenzamido)ethyl]pyrrolidinium-1-yl}methyl and [(2Z)-2-(2-amino-1,3-thiazol-4-yl)-2-{[(2-carboxypropan-2-yl)oxy]imino}acetyl]amino side groups located at positions 3 and 7 respectively, developed to combat a variety of bacterial pathogens, including beta-lactam- and carbapenem-resistant organisms.


name: G6PT3_HUMAN Glucose-6-phosphate exchanger SLC37A2 (sprot)

description: A glucose-6-phosphate exchanger SLC37A2 that is encoded in the genome of human.


name: PLPR1_HUMAN Phospholipid phosphatase-related protein type 1 (sprot)

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


name: S26A3_HUMAN Chloride anion exchanger (sprot)

description: A chloride anion exchanger that is encoded in the genome of human.


selective IgG immunodeficiency

description: A broad classification of dysgammaglobulinemias characterized by low or undetectable serum levels of immunoglobulin class G (IgG). Deficiencies of IgG present variably according to subclass. IgG deficiencies are typically relative among subclasses and not absolute. Thus even with a given selective IgG subclass deficiency, total IgG levels may still fall within normal range. The clinical course and prognosis is dependent upon the severity of the deficiency and associated morbidity.


name: hereditary thrombophilia due to congenital protein C deficiency

description: Congenital protein C deficiency is an inherited coagulation disorder characterized by deep venous thrombosis symptoms due to reduced synthesis and/or activity levels of protein C.


name: RHBG_HUMAN Ammonium transporter Rh type B (sprot)

description: An ammonium transporter Rh type B that is encoded in the genome of human.


Ullrich congenital muscular dystrophy

description: Ullrich congenital muscular dystrophy (UCMD) is characterized by early-onset, generalized and slowly progressive muscle weakness, multiple proximal joint contractures, marked hypermobility of the distal joints and normal intelligence.


name: VSTM1_HUMAN V-set and transmembrane domain-containing protein 1 (sprot)

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


NPM2_HUMAN Nucleoplasmin-2 (sprot)

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


pentolonium

A dication whose structure comprises a pentane backbone linking two 1-methylpyrrolidinium groups; a nicotinic antagonist used as a ganglionic blocking agent in hypertension.


CD248_HUMAN Endosialin (sprot)

An endosialin that is encoded in the genome of human.


name: DPP6_HUMAN Dipeptidyl aminopeptidase-like protein 6 (sprot)

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


name: ASB2_HUMAN Ankyrin repeat and SOCS box protein 2 (sprot)

description: An ankyrin repeat and SOCS box protein 2 that is encoded in the genome of human.


name: SIX4_HUMAN Homeobox protein SIX4 (sprot)

description: A homeobox protein SIX4 that is encoded in the genome of human.


lymphoplasmacytic lymphoma

description: A clonal neoplasm of small B-lymphocytes, lymphoplasmacytoid cells, and plasma cells involving the bone marrow, lymph nodes, and the spleen. The majority of patients have a serum IgM paraprotein.


name: ENPP7_HUMAN Ectonucleotide pyrophosphatase/phosphodiesterase family member 7 (sprot)

description: An ectonucleotide pyrophosphatase/phosphodiesterase family member 7 that is encoded in the genome of human.


name: PDE9A_HUMAN High affinity cGMP-specific 3',5'-cyclic phosphodiesterase 9A (sprot)

description: A high affinity cGMP-specific 3',5'-cyclic phosphodiesterase 9A that is encoded in the genome of human.


Kallmann syndrome

description: Kallmann syndrome (KS) is a developmental genetic disorder characterized by the association of congenital hypogonadotropic hypogonadism (CHH) due to gonadotropin-releasing hormone (GnRH) deficiency, and anosmia or hyposmia (with hypoplasia or aplasia of the olfactory bulbs).


name: EDEM3_HUMAN ER degradation-enhancing alpha-mannosidase-like protein 3 (sprot)

description: An ER degradation-enhancing alpha-mannosidase-like protein 3 that is encoded in the genome of human.


ARFP2_HUMAN Arfaptin-2 (sprot)

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


guanethidine

A member of the class of  guanidines in which one of the hydrogens of the amino group has been replaced by a 2-azocan-1-ylethyl group.


orazamide

An aminoimidazole in which the amino group is at C-5 with a carboxamido group at C-4.


name: TMPSD_HUMAN Transmembrane protease serine 13 (sprot)

description: A transmembrane protease serine 13 that is encoded in the genome of human.


name: ACOT2_HUMAN Acyl-coenzyme A thioesterase 2, mitochondrial (sprot)

description: An acyl-coenzyme A thioesterase 2, mitochondrial that is encoded in the genome of human.


A member of the class of hydroxyindoles that is 1H-indole in which the hydrogen at position 5 has been replaced by a hydroxy group.


The parent compound of the 2-aminopurines, comprising a purine core carrying an amino substituent at the 2-position.


name: TIM8B_HUMAN Mitochondrial import inner membrane translocase subunit Tim8 B (sprot)

description: A mitochondrial import inner membrane translocase subunit Tim8 B that is encoded in the genome of human.


name: PCP4_HUMAN Calmodulin regulator protein PCP4 (sprot)

description: A calmodulin regulator protein PCP4 that is encoded in the genome of human.


name: TOLIP_HUMAN Toll-interacting protein (sprot)

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


name: M3K15_HUMAN Mitogen-activated protein kinase kinase kinase 15 (sprot)

description: A mitogen-activated protein kinase kinase kinase 15 that is encoded in the genome of human.


Premature ventricular contraction

description: Premature ventricular contractions (PVC) or ventricular extrasystoles are premature contractions of the heart that arise in response to an impulse in the ventricles rather than the normal impulse from the sinoatrial (SA) node.


Peripheral opacification of the cornea

description: Reduced transparency of the peripheral region of the cornea.


name: FHOD3_HUMAN FH1/FH2 domain-containing protein 3 (sprot)

description: An FH1/FH2 domain-containing protein 3 that is encoded in the genome of human.


name: FHOD1_HUMAN FH1/FH2 domain-containing protein 1 (sprot)

description: An FH1/FH2 domain-containing protein 1 that is encoded in the genome of human.


phosphatidylinositol (18:0/18:3)

A phosphatidylinositol 36:3 in which the acyl group at C-1 contains 18 carbons and no double bonds while that at C-2 contains 18 carbons and 3 double bonds


malignant otitis externa

description: An otitis externa which involves infection of the external ear that has spread to involve the skull bone containing part of the ear canal, the middle ear, and the inner ear. It is caused by the bacteria Pseudomonas. This is common in people with weakened immune systems and in older people with diabetes.


name: AKTIP_HUMAN AKT-interacting protein (sprot)

description: An AKT-interacting protein that is encoded in the genome of human.


chronic tic disorder

description: A neurological disorder presenting in childhood that is characterized by either motor or phonic tics, but not both, that occur daily or nearly daily for at least a year and are not attributed to an identifiable cause.


chilblain lupus

description: A rare, chronic cutaneous lupus erythematosus disease characterized by red or violaceous, initially pruritic (evolving to painful) papules and plaques located on acral areas (especially dorsal aspects of fingers and toes, while the nose and ear involvement is uncommon), exacerbated by cold and damp conditions, with fissuring and ulceration occasionally observed. Coexistence of discoid lupus erythematosus lesions elsewhere on the body and occasional progression to systemic lupus erythematosus may be associated. Histological examination and direct immunofluorescence studies reveal nonspecific inflammatory lupus erythematosus changes while results of cryoglobulin and cold agglutinin studies are negative.


phosphatidylcholine (20:3/22:6)

A phosphatidylcholine 42:9  in which the fatty acyl groups at positions 1 and 2 are specified as C20:3 and C22:6 respectively.


name: MA1A1_HUMAN Mannosyl-oligosaccharide 1,2-alpha-mannosidase IA (sprot)

description: A mannosyl-oligosaccharide 1,2-alpha-mannosidase IA that is encoded in the genome of human.


name: YMEL1_HUMAN ATP-dependent zinc metalloprotease YME1L1 (sprot)

description: An ATP-dependent zinc metalloprotease YME1L1 that is encoded in the genome of human.


yolk sac tumor

description: A non-seminomatous malignant germ cell tumor composed of primitive germ cells. It is the most common malignant germ cell tumor in the pediatric population. It occurs in the infant testis, ovary, sacrococcygeal region, vagina, uterus, prostate, abdomen, liver, retroperitoneum, thorax, and pineal/third ventricle. The tumor mimics the yolk sac of the embryo and produces alpha-fetoprotein (AFP). Treatment includes: surgical resection, radiation, and chemotherapy. This tumor is very responsive to chemotherapy regimens that include cisplatinum.


herpes simplex virus keratitis

description: A superficial, epithelial Herpesvirus hominis infection of the cornea, characterized by the presence of small vesicles which may break down and coalesce to form dendritic ulcers (keratitis, dendritic). (Dictionary of Visual Science, 3d ed)