WHIM syndrome 1

description: A congenital autosomal dominant immune deficiency characterized by abnormal retention of mature neutrophils in the bone marrow (myelokathexis) and occasional hypogammaglobulinemia, associated with an increased risk for bacterial infections and a susceptibility to human papillomavirus (HPV) induced lesions (cutaneous warts, genital dysplasia and invasive mucosal carcinoma).


name: autosomal recessive severe congenital neutropenia due to CXCR2 deficiency

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


name: autosomal recessive severe congenital neutropenia

description: Severe congenital neutropenia inherited in an autosomal recessive pattern.


name: neutropenia, severe congenital, 8, autosomal dominant


description: Severe congenital neutropenia inherited in an autosomal recessive pattern and caused by mutation(s) in the VPS45 gene, encoding vacuolar protein sorting-associated protein 45. It is characterized by neutrophil dysfunction, a lack of response to G-CSF, life-threatening infections, bone marrow fibrosis, and renal extramedullary hematopoiesis.


name: neutropenia, severe congenital, 2, autosomal dominant

description: Any autosomal dominant severe congenital neutropenia in which the cause of the disease is a mutation in the GFI1 gene.


name: neutropenia, severe congenital, 10, autosomal recessive


name: autosomal recessive severe congenital neutropenia due to CSF3R deficiency

description: Severe congenital neutropenia inherited in an autosomal recessive pattern and caused by mutation(s) in the CSF3R gene, encoding granulocyte colony-stimulating factor receptor. It is characterized by the onset of recurrent infections in infancy or early childhood and peripheral neutropenia, despite normal granulocyte maturation, that is unresponsive to treatment with G-CSF.


name: neutropenia, lethal congenital, with eosinophilia


glycogen storage disease Ib

description: A type of glycogenosis due to G6P deficiency.


name: neutropenia, severe congenital, 1, autosomal dominant

description: Severe congenital neutropenia inherited in an autosomal dominant pattern and caused by mutation(s) in the ELANE gene, encoding neutrophil elastase


Cohen syndrome

description: Cohen syndrome (CS) is a rare genetic developmental disorder characterized by microcephaly, characteristic facial features, hypotonia, non-progressive intellectual deficit, myopia and retinal dystrophy, neutropenia and truncal obesity.


name: autosomal recessive severe congenital neutropenia due to G6PC3 deficiency

description: Severe congenital neutropenia inherited in an autosomal recessive pattern and caused by mutation(s) in the G6PC3 gene, encoding glucose-6-phosphatase 3. It is characterized by cardiac abnormalities, hepatosplenomegaly, intermittent thrombocytopenia and a prominent superficial venous pattern.


name: autosomal dominant severe congenital neutropenia

description: Autosomal dominant form of severe congenital neutropenia.


name: neutropenia, severe congenital, 9, autosomal dominant


poikiloderma with neutropenia

description: A skin disease characterized by poikiloderma, hyperkeratotic nails, generalized hyperkeratosis on palms and soles, neutropenia, short stature, and recurrent pulmonary infections. It has material basis in mutation in the C16ORF57 gene on chromosome 16q13.


name: ribonucleoside-diphosphate reductase large subunit isoform 1 (human)

description: A ribonucleoside-diphosphate reductase large subunit isoform 1 that is encoded in the genome of human.


name: ribonucleoside-diphosphate reductase large subunit methylated 2 (human)

description: A ribonucleoside-diphosphate reductase large subunit (human) that has been methylated on the residue at the position equivalent to Cys-429 of the amino acid sequence represented by UniProtKB:P23921. UniProtKB:P23921, Cys-429, MOD:00660.


name: ribonucleoside-diphosphate reductase large subunit deaminated 2 (human)

description: A ribonucleoside-diphosphate reductase large subunit (human) that has been deaminated on the residue at the position equivalent to Gln-530 of the amino acid sequence represented by UniProtKB:P23921. UniProtKB:P23921, Gln-530, MOD:00685.


name: ribonucleoside-diphosphate reductase large subunit methylated 1 (human)

description: A ribonucleoside-diphosphate reductase large subunit (human) that has been methylated on the residue at the position equivalent to Cys-26 of the amino acid sequence represented by UniProtKB:P23921. UniProtKB:P23921, Cys-26, MOD:00660.


name: ribonucleoside-diphosphate reductase large subunit cysteinylated 2 (human)

description: A ribonucleoside-diphosphate reductase large subunit (human) that has been cysteinylated on the residue at the position equivalent to Cys-444 of the amino acid sequence represented by UniProtKB:P23921. UniProtKB:P23921, Cys-444, MOD:00765.


name: ribonucleoside-diphosphate reductase large subunit deaminated 1 (human)

description: A ribonucleoside-diphosphate reductase large subunit (human) that has been deaminated on the residue at the position equivalent to Asn-85 of the amino acid sequence represented by UniProtKB:P23921. UniProtKB:P23921, Asn-85, MOD:00684.


name: ribonucleoside-diphosphate reductase large subunit deaminated 3 (human)

description: A ribonucleoside-diphosphate reductase large subunit (human) that has been deaminated on the residue at the position equivalent to Gln-678 of the amino acid sequence represented by UniProtKB:P23921. UniProtKB:P23921, Gln-678, MOD:00685.


name: ribonucleoside-diphosphate reductase large subunit cysteinylated 1 (human)

description: A ribonucleoside-diphosphate reductase large subunit (human) that has been cysteinylated on the residue at the position equivalent to Cys-26 of the amino acid sequence represented by UniProtKB:P23921. UniProtKB:P23921, Cys-26, MOD:00765.


name: ribonucleoside-diphosphate reductase large subunit cysteinylated 3 (human)

description: A ribonucleoside-diphosphate reductase large subunit (human) that has been cysteinylated on the residue at the position equivalent to Cys-429 of the amino acid sequence represented by UniProtKB:P23921. UniProtKB:P23921, Cys-429, MOD:00765.


Grade 2 Non-Malignant Ascites, CTCAE

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


name: porokeratosis 8, disseminated superficial actinic type


linear porokeratosis

description: Linear porokeratosis is a rare skin condition characterized by streaks of reddish-brown patches surrounded by a ridge-like border.The patches usually develop in infants or young children, but they sometimes develop in adults.


name: porokeratosis 6, disseminated superficial actinic type


porokeratosis 9, multiple types

description: Any porokeratosis (disease) in which the cause of the disease is a mutation in the FDPS gene.


name: disseminated superficial actinic porokeratosis

description: Disseminated superficial actinic porokeratosis (DSAP) is the most common form of porokeratosis characterized by the presence of several small annular plaques with a distinctive keratotic rim found most commonly on sun-exposed areas of the skin, particularly the extremities.


name: porokeratosis 5, disseminated superficial actinic type


porokeratosis of Mibelli

description: Porokeratosis of Mibelli (PM) is a form of porokeratosis that is characterized by the presence of brown single or multiple annular plaques of varying size, that are sometimes confluent, with a distinctive sharply-defined keratotic border.


name: porokeratosis 4, disseminated superficial actinic type


name: porokeratosis 3, disseminated superficial actinic type


name: porokeratosis plantaris palmaris et disseminata

description: Porokeratosis plantaris palmaris et disseminata (PPPD) is a rare form of porokeratosis occurring mainly in adolescence and characterized by small pruritic or painful keratotic papules that first appear on the palms and soles, and may gradually become generalized.


name: serine/threonine-protein kinase 4 hydroxylated 1 (human)

description: A serine/threonine-protein kinase 4 (human) that has been hydroxylated on the residue at the position equivalent to Trp-99 of the amino acid sequence represented by UniProtKB:Q13043-1. Example: UniProtKB:Q13043-1, Trp-99, MOD:01622.


ethmoid sinusitis

description: An acute or chronic inflammatory process affecting the mucous membrane of the ethmoid sinus.


acute ethmoiditis

description: Acute form of ethmoid sinusitis.


chronic ethmoidal sinusitis

description: Inflammation of the ethmoid sinus that typically lasts beyond eight weeks. It is caused by infections, allergies, and the presence of sinus polyps or a deviated septum. Signs and symptoms include headache, nasal discharge, swelling in the face, dizziness, and breathing difficulties.


name: infiltrating nipple syringomatous adenoma

description: An invasive, non-metastasizing neoplasm with sweat duct differentiation that arises in the area of the nipple. Local recurrences have been reported.


breast fibroepithelial neoplasm

description: A benign or malignant biphasic neoplasm that arises from the breast parenchyma. It is characterized by the presence of an epithelial and a mesenchymal (stromal) component. The typical examples are fibroadenoma and phyllodes tumor.


breast neuroendocrine neoplasm

description: A neoplasm that arises from the breast and is composed of cells of neuroendocrine origin. Most cases are neuroendocrine carcinomas. Primary carcinoid tumors of the breast are very rare.


name: breasts and/or nipples, aplasia or hypoplasia of, 2

description: Any isolated congenital breast hypoplasia/aplasia in which the cause of the disease is a mutation in the PTPRF gene.


benign eccrine breast spiradenoma

description: A very rare, benign sweat gland neoplasm that affects the breast. It is characterized by the proliferation of basaloid epithelial cells.


name: isolated congenital breast hypoplasia/aplasia


blunt duct adenosis of breast

description: Breast adenosis characterized by the presence of ducts with distended lumen and columnar cell metaplasia.


breast synovial sarcoma

description: A synovial sarcoma (disease) that involves the breast.


breast myofibroblastoma

description: A myofibroblastoma occurring in the breast of both women and men. It presents as a slowly growing mass.


apocrine adenosis of breast

description: Breast adenosis characterized by the presence of extensive apocrine metaplasia.


name: breast fibrocystic change, proliferative type

description: Breast fibrocystic change characterized by the presence of epithelial cell hyperplasia. Epithelial atypia may be present or absent.


breast phyllodes tumor

description: A benign, malignant, or borderline circumscribed biphasic neoplasm that arises from the breast. It usually affects middle-aged women. It is characterized by the presence of a double layer of epithelial cells that are arranged in clefts, surrounded by a spindle cell mesenchymal (stromal) component.


breast fibrosis

description: Breast fibrocystic change characterized by the prominence of fibrotic changes in the parenchyma.


name: salivary gland type cancer of the breast

description: A group of uncommon neoplasms, usually seen in the salivary glands but occurring in the breast, with a variable clinicopathologic spectrum and divided into those with myoepithelial differentiation and those without. This group includes mammary adenoid cystic carcinoma, adenoid cystic carcinoma, mucoepidermoid carcinoma, acinic cell carcinoma, polymorphous low-grade adenocarcinoma and oncocytic carcinoma.


acropectororenal dysplasia

description: Acro-pectoro-renal field defect is a very rare association of a Poland anomaly, that is characterized by unilateral absence or hypoplasia of the pectoralis major muscle (most frequently involving the sternocostal head) and a variable degree of ipsilateral hand anomalies (including symbrachydactyly, brachydactyly, absent thumb and hypoplastic fingers), combined with a genito-urinary anomaly. Associated genito-urinary anomalies reported include renal hypoplasia or agenesis, duplex collecting system, ureteropelvic junction obstruction, hypospadias and undescended testicles.


intraductal breast neoplasm

description: A benign or malignant epithelial neoplasm that arises anywhere in the ductal system of the breast. This category includes intraductal papilloma, intraductal papillary carcinoma, ductal hyperplasia with or without atypia, and ductal carcinoma in situ.


solitary cyst of breast

description: A single, fluid-filled cyst in the breast parenchyma.


microglandular adenosis of breast

description: A rare variant of breast adenosis characterized by the proliferation of small round glands in a collagenous stroma. The epithelial cells are cuboidal and there are no myopepithelial cells present. There is no evidence of atypia.


breast implant illness

description: A syndrome that is characterized by fatigue, problems with memory or concentration, joint and muscle pain, hair loss, weight changes and anxiety/depression. This syndrome may be related to breast implants


lactocele

description: Single or multiple, milk-containing nodules in the breast. It is caused by obstruction of the breast ducts during lactation. Needle aspiration of the milk is the treatment of choice.


benign breast phyllodes tumor

description: A usually unilateral, benign and well circumscribed biphasic neoplasm that arises from the breast. It usually affects middle-aged women. It is characterized by the presence of a double layer of epithelial cells that are arranged in clefts, surrounded by a cellular, monomorphic spindle cell mesenchymal component. Mitoses are rare. Necrotic changes may be present in large tumors.


breast adenomyoepithelial adenosis

description: An uncommon variant of breast adenosis characterized by the presence of irregularly shaped glands, epithelial cells with eosinophilic cytoplasm, and prominent myopepithelial cells. Mild atypia may be present.


breast giant fibroadenoma

description: A breast fibroadenoma characterized by a very large size. This term has also been used as a synonym for juvenile fibroadenoma by some authors. The latter is characterized by epithelial hyperplasia and an increased stromal cellularity.


nipple neoplasm

description: A benign or malignant neoplasm that arises in the area of the nipple.


name: familial juvenile hypertrophy of the breast

description: Familial juvenile hypertrophy of the breast is a rare breast malformation disorder characterized by unilateral or bilateral, symmetrical or asymmetrical, uncontrolled, rapid and massive enlargement of the breast(s) in peripubertal females, occurring in various members of a family. Additional associated manifestations may include skin hyperemia, dilated subcutaneous veins, skin necrosis, kyphosis, lordosis and anonychia. Growth and development are otherwise normal.


benign neoplasm of male breast

description: A non-metastasizing neoplasm that arises from the breast parenchyma in males.


multiple fibroadenoma of the breast

description: Mammary polyadenomatosis is characterized by the presence in both breasts of multiple voluminous fibroadenomas with heterogeneous echo patterns.


name: craniofrontonasal dysplasia-Poland anomaly syndrome

description: Cranio-fronto-nasal dysplasia - Poland anomaly is a polymalformative syndrome characterized by craniosynostosis, Poland anomaly, cranio-fronto-nasal dysplasia, and genital and breast anomalies. Less than ten cases have been described so far.


usual ductal breast hyperplasia

description: A neoplastic ductal proliferative lesion of the breast characterized by the formation of secondary lumens and prominent intraductal proliferation of a heterogeneous cellular population that may include epithelial cells, myoepithelial cells, or metaplastic apocrine cells.


breast angiomatosis

description: A benign diffuse vascular proliferation in the breast. It is characterized by the formation of capillary-sized and cavernous vascular spaces.


name: breasts and/or nipples, aplasia or hypoplasia of, 1


flat ductal epithelial atypia

description: A breast lesion characterized by the presence of dilated terminal ductal lobular units in which the epithelial lining has been replaced by a single layer of mildly atypical cells, or there is atypical, monotonous epithelial hyperplasia of three to five layers. This lesion relates to columnar cell change with atypia and columnar cell hyperplasia with atypia.


breast lipoma

description: A benign, mesenchymal neoplasm that arises from the breast. It is surrounded by a thin capsule and composed of mature adipose tissue cells. Atypia is absent.


name: non-proliferative fibrocystic change of the breast

description: Breast fibrocystic change characterized by the absence of epithelial cell hyperplasia.


infant gynecomastia

description: Transient bilateral swelling of breast tissue in a neonate that results from the waning influence of maternal estrogen.


diabetic mastopathy

description: Diabetic mastopathy are noncancerous lesions in the breast most commonly diagnosed in premenopausal women with type 1 diabetes. The cause of this condition is unknown. Symptoms may include hard, irregular, easily movable, discrete, painless breast mass(es).


sclerosing adenosis of breast

description: Breast adenosis characterized by the proliferation of acini, a lobulated architectural pattern, and stromal sclerosis. The luminal epithelial and myopepithelial cells are preserved. Microcalcifications and foci of apocrine metaplasia may be present.


breast pericanalicular fibroadenoma

description: A morphologic variant of breast fibroadenoma without clinical significance. It is characterized by circumferential proliferation of stromal cells around the ducts. This results in the formation of rounded ductal-epithelial structures.


breast intracanalicular fibroadenoma

description: A morphologic variant of breast fibroadenoma without clinical significance. It is characterized by distortion and compression of the ducts by proliferating stromal cells.


fat necrosis of breast

description: Localized necrosis of the adipose tissue in the breast. Clinically, it may present as a mass. Causes include injury, surgical procedures, and radiation treatment.


intraductal papillary breast neoplasm

description: A benign or malignant papillary neoplasm that arises anywhere in the ductal system of the breast. It is characterized by fibrovascular structures lined by epithelial proliferations. This category includes intraductal papilloma and intraductal papillary carcinoma.


lactation disease

description: A disorder not necessarily related to pregnancy that is observed in females and males. It is characterized by disturbances of milk secretion. Causes include damage to the breast parenchyma due to inflammation, medications, pituitary tumors, and hypothyroidism.


name: Ampicillin Sodium Mixture With Sulbactam Sodium


epicillin

A penicillin in which the substituent at position 6 of the penam ring is a (2R)-2-amino-2-(cyclohexa-1,4-dien-1-yl)acetamido group.


flavocillin

A penicillin in which the substituent at position 6 of the penam ring is a [3-(4-oxo-4H-chromen-2-yl)benzoyl]nitrilo group.


sulbenicillin

A penicillin antibiotic having a 6beta-[phenyl(sulfo)acetamido] side-chain.


Penicillanic acid carrying a (p-aminophenyl)imino]pentylidene}amino substituent at the 6beta position. It has been used as a hapten in the production of a generic monoclonal antibody for determining penicillin residues in milk.


pivmecillinam

A penicillanic acid ester that is the [(2,2-dimethylpropanoyl)oxy]methyl ester and prodrug of mecillinam.


mecillinam

A penicillin in which the 6beta substituent is [(azepan-1-yl)methylidene]amino; an extended-spectrum penicillin antibiotic that binds specifically to penicillin binding protein 2 (PBP2), and is only considered to be active against Gram-negative bacteria.


metampicillin

A penicillin compound having a 6beta-(2R)-2-(methylideneamino)-2-phenylacetamido side-group.


temocillin

A penicillin compound having a 6alpha-methoxy and 6beta-[2-carboxy(thiophen-3-yl)acetamido side-groups.


almecillin

A penicillin where the side-chain N-acyl group is specified as allylmercaptoacetyl. Antibiotic isolated from Penicillium chrysogenum.


QUINACILLIN

A semisynthetic penicillase-resistant penicillin with antibacterial activity; it binds to and inactivates penicillin-binding proteins (PBPs) located on the inner membrane of the bacterial cell wall.


N-benzoylampicillin

A penicillin that is the N-benzoyl derivative of ampicillin.


clometocillin

A penicillin that is benzylpenicillin in which the phenylacetyl group has been replaced by a (3,4-dichlorophenyl)(methoxy)acetyl group. It is a mixture of epimers at the methoxy-bearing carbon.


Penicillanic acid carrying a (p-hydroxybenzylidene)amino substituent at the 6beta position. It has been used as a hapten in the production of a generic monoclonal antibody for determining penicillin residues in milk.


penicillin allergen

Any penicillin which causes the onset of an allergic reaction.


Grade 1 Jejunal Fistula, CTCAE

description: Asymptomatic


name: U5 small nuclear ribonucleoprotein 200 kDa helicase isoform 1 (human)

description: A U5 small nuclear ribonucleoprotein 200 kDa helicase isoform 1 that is encoded in the genome of human.


Recurrent Ocular Melanoma

description: The reemergence of ocular melanoma after a period of remission.


Recurrent Uveal Melanoma

description: The reemergence of uveal melanoma after a period of remission.


Lentigo maligna recurrent

description: The reemergence of lentigo maligna after a period of remission


Recurrent Non-Cutaneous Melanoma

description: The reemergence of non-cutaneous melanoma after a period of remission.


Recurrent Mucosal Melanoma

description: The reemergence of a mucosal melanoma after a period of remission.


name: Recurrent Cutaneous Melanoma of the Extremity

description: Cutaneous melanoma of the upper or lower extremity that has recurred after a period of remission.


Recurrent Acral Lentiginous Melanoma

description: The reemergence of acral lentiginous melanoma after a period of remission.


name: mitogen-activated protein kinase 9 isoform hAlpha-2 (human)

description: A mitogen-activated protein kinase 9 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P45984-1.


name: mitogen-activated protein kinase 9 phosphorylated 1 (human)

description: A mitogen-activated protein kinase 9 (human) that has been phosphorylated on the residue at the position equivalent to Thr-183, and phosphotyrosine at position 185 of the amino acid sequence represented by UniProtKB:P45984. UniProtKB:P45984, Thr-183, MOD:00047|Tyr-185, MOD:00048.


name: mitogen-activated protein kinase 9 isoform hBeta-1 (human)

description: A mitogen-activated protein kinase 9 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P45984-3.


name: mitogen-activated protein kinase 9 isoform Alpha-1 (human)

description: A mitogen-activated protein kinase 9 isoform 2 that is encoded in the genome of human.


name: mitogen-activated protein kinase 9 isoform h5 (human)

description: A mitogen-activated protein kinase 9 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P45984-5.


name: mitogen-activated protein kinase 9 isoform hBeta-2 (human)

description: A mitogen-activated protein kinase 9 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P45984-4.


name: voltage-gated potassium channel subunit KCNQ1 sequence variant R190Q (human)

description: A potassium voltage-gated channel subfamily KQT member 1 (human) that has a Gln residue at the position equivalent to Arg-190 of the amino acid sequence represented by UniProtKB:P51787-1. Example: UniProtKB:P51787-1, Arg-190, CHEBI:30011.


name: Trichomonas vaginitis urogenital infection

description: A sexually transmitted parasitic infection caused by Trichomonas vaginalis. Symptoms include vaginal discharge, vaginal odor, vaginal itching, and discomfort during intercourse.


Trichomonas cystitis

description: An cystitis caused by infection with Trichomonas vaginalis.


Trichomonas cervicitis

description: An cervicitis (disease) caused by infection with Trichomonas vaginalis.


Grade 2 Fibrinogen Decreased, CTCAE

description: <0.75-0.5 x LLN; if abnormal, 25-<50% decrease from baseline


name: Childhood Acute Myeloid Leukemia with t(8;21); (q22; q22.1); RUNX1-RUNX1T1

description: An acute myeloid leukemia with t(8;21)(q22; q22.1); RUNX1-RUNX1T1 occurring in children.


Colon Liposarcoma

description: A liposarcoma that arises from the colon.


name: Grade 3 Pulmonary Artery Intra-Operative Injury, CTCAE


name: voltage-dependent L-type calcium channel subunit alpha-1S isoform r1 (rat)

description: A voltage-dependent L-type calcium channel subunit alpha-1S (rat) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q02485-1.


name: Advanced Head and Neck Squamous Cell Carcinoma

description: A head and neck squamous cell carcinoma that has spread extensively to other anatomic sites or is no longer responding to treatment.


name: Advanced Cutaneous Squamous Cell Carcinoma of the Head and Neck

description: Cutaneous squamous cell carcinoma of the head and neck that has spread extensively to other anatomic sites or is no longer responding to treatment.


name: Advanced Oral Cavity Squamous Cell Carcinoma

description: A squamous cell carcinoma of the oral cavity that has spread extensively to other anatomic sites or is no longer responding to treatment.


name: Locally Advanced Nasal Cavity Squamous Cell Carcinoma

description: Nasal cavity squamous cell carcinoma that has spread to nearby tissues or lymph nodes.


name: Metastatic Nasal Cavity Squamous Cell Carcinoma

description: Nasal cavity squamous cell carcinoma that has spread from its original site of growth to another anatomic site.


name: Unresectable Nasal Cavity Squamous Cell Carcinoma

description: Nasal cavity squamous cell carcinoma that is not amenable to surgical resection.


name: keratinizing squamous cell carcinoma of nasal cavity

description: A squamous cell carcinoma that arises from the nasal cavity and is characterized by prominent production of keratin.


name: serine/threonine-protein kinase 25 isoform h2 (human)

description: A serine/threonine-protein kinase 25 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:O00506-2.


name: serine/threonine-protein kinase 25 isoform 1 (human)

description: A serine/threonine-protein kinase 25 isoform 1 that is encoded in the genome of human.


name: serine/threonine-protein kinase 25 isoform h3 (human)

description: A serine/threonine-protein kinase 25 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:O00506-3.


Type A Tylosis

description: An inherited form of tylosis that presents between 5-14 years of age and is characterized by focal areas of nonepidermolytic palmoplantar keratoderma. Individuals have an increased incidence of esophageal carcinoma.


keratosis

description: A skin disorder consisting of hypertrophy of the stratum corneum of the skin.


Type B Tylosis

description: An inherited form of tylosis that presents by one year and is characterized by benign palmoplantar keratoderma.


acquired keratosis

description: Focal or diffuse thickening of the skin not inherited as a primary genetic disorder. Causes include inflammatory skin disorders, infectious disorders, lymphedema, and medications.


name: Palmoplantar keratoderma with leukoplakia

description: A hereditary syndrome this is characterized by palmoplantar keratoderma accompanied by leukoplakia and may be associated with a high lifetime risk of esophageal cancer, as seen in Howel-Evans Syndrome.


name: ephrin type-B receptor 1, signal peptide removed form (human)

description: An ephrin type-B receptor 1 (human) that has had the signal peptide removed. UniProtKB:P54762, 18-984.


name: ephrin type-B receptor 1, signal peptide removed phosphorylated 1 (human)

description: An ephrin type-B receptor 1 (human) that has had the signal peptide removed and has been post-translationally modified to include phosphotyrosine at positions 594 and 600 of the amino acid sequence represented by UniProtKB:P54762. UniProtKB:P54762, 18-984, Tyr-594/Tyr-600, MOD:00048.


Enteric hyperoxaluria

description: Excessive urinary oxalate excretion resulting from increased absorption of oxalate.


name: maltase-glucoamylase O-glycosylated 1 (human)

description: A maltase-glucoamylase (human) that has been O-glycosylated at the residue equivalent to Thr-80 of the amino acid sequence represented by UniProtKB:O43451-1, in which the glycan composition is represented by GlyTouCan:G53434XO. Example: UniProtKB:O43451-1, Thr-80, MOD:00005~GNO:G53434XO.


name: amyloid-beta precursor protein sequence variant A692G (human)

description: An amyloid-beta precursor protein sequence variant (human) that has a Gly residue at the position equivalent to Ala-692 of the amino acid sequence represented by UniProtKB:P05067-1. Example: UniProtKB:P05067-1, Ala-692, CHEBI:29947.


(S)-chlormezanone

The (S)-enantiomer of chlormezanone.


name: RAF proto-oncogene serine/threonine-protein kinase phosphotyrosine form (human)

description: A RAF proto-oncogene serine/threonine-protein kinase (human) that includes at least 1 phosphorylated tyrosine. UniProtKB:P04049, MOD:00048.


name: glutamate dehydrogenase 2, mitochondrial, transit peptide removed form (human)

description: A glutamate dehydrogenase 2, mitochondrial (human) that has had the transit peptide removed. UniProtKB:P49448, 54-558.


name: glutamate dehydrogenase 2, mitochondrial, transit peptide removed N6-acetyllysine form (human)

description: A glutamate dehydrogenase 2, mitochondrial (human) that has had the transit peptide removed and that includes at least 1 N6-acetyllysine. UniProtKB:P49448, 54-558, MOD:00064.


name: glutamate dehydrogenase 2, mitochondrial, transit peptide removed ADP-ribosylated form (human)

description: A glutamate dehydrogenase 2, mitochondrial (human) that has had the transit peptide removed and that includes at least 1 ADP-ribosylated residue. UniProtKB:P49448, 54-558, MOD:00752.


name: superoxide dismutase [Mn], mitochondrial, transit peptide removed acetylated 1 (human)

description: A superoxide dismutase [Mn], mitochondrial (human) that has had the transit peptide removed and that has been acetylated on the residue at the position equivalent to Lys-122 of the amino acid sequence represented by UniProtKB:P04179-1. Example: UniProtKB:P04179-1, 25-222, Lys-122, MOD:00064.


B-cell receptor CD22 isoform h3 (human)

A B-cell receptor CD22 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P20273-3.


description: Brachymorphism-onychodysplasia-dysphalangism (BOD) is a very rare malformation syndrome that is characterized by short stature, hypoplastic fifth digits with tiny dysplastic nails, facial dysmorphism with coarse features including a wide mouth and broad nose, and mild intellectual disability. It has been suggested that Coffin-Siris syndrome and BOD syndrome are perhaps allelic variants.


erythema elevatum diutinum

description: Erythema elevatum diutinum (EED) is a distinctive form of chronic cutaneous vasculitis, belonging to the group of the neutrophilic dermatoses.


name: transcription factor p65 isoform 1 acetylated 1 (human)

description: A transcription factor p65 isoform 1 acetylated 1 in human. UniProtKB:Q04206-1, Lys-310/Lys-314/Lys-315, MOD:00064.


name: Maternally Derived Graft Versus Host Disease

description: Graft versus host disease (GVHD) that occurs in an infant as the result of engraftment of maternal lymphocytes, resulting from in utero maternal-fetal cellular trafficking.


multiple skull base meningioma

description: Multiple meningiomas that affect the skull base.


hexol

A polyol that contains 6 hydroxy groups.


Grade 5 Hydrocephalus, CTCAE

description: Death


thymidylate kinase isoform 1 (human)

A thymidylate kinase isoform 1 that is encoded in the genome of human.


name: endoplasmic reticulum aminopeptidase 1 hydroxylated 1 (human)

description: An endoplasmic reticulum aminopeptidase 1 (human) that has been hydroxylated on the residue at the position equivalent to Trp-932 of the amino acid sequence represented by UniProtKB:Q9NZ08-1. Example: UniProtKB:Q9NZ08-1, Trp-932, MOD:01622.


normokalemic periodic paralysis

description: An autosomal dominant inherited non-dystrophic myotonia caused by mutations of the SCN4A gene, resulting in sodium muscle channelopathy. Currently, it is considered a variant of hyperkalemic periodic paralysis.  Patients with normokalemic periodic paralysis do not have any change in their potassium levels during weakness, but become weak when they ingest potassium.


name: potassium voltage-gated channel subfamily C member 2 isoform KSHIIIA.1 (rat)

description: A voltage-gated potassium channel KCNC2 isoform 3 that is encoded in the genome of rat.


name: potassium voltage-gated channel subfamily C member 2 isoform 3 (human)

description: A voltage-gated potassium channel KCNC2 isoform 3 that is encoded in the genome of human.


name: Grade 2 Rectum Mucositis or Stomatitis by Clinical Examination Classification, CTCAE


name: fibroblast growth factor receptor 1, signal peptide removed form (human)

description: A fibroblast growth factor receptor 1 (human) that has had the signal peptide removed. Example: UniProtKB:P11362-1, 22-822.


histamine H3 receptor isoform r3 (rat)

A histamine H3 receptor (rat) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q9QYN8-3.


Harel-Yoon syndrome

description: A syndromic neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability, truncal hypotonia, spasticity, and peripheral neuropathy.


focal labyrinthitis

description: A labyrinthitis which is an infectious inflammatory disease of a circumscribed area of either the vestibular or the cochlear portion of the labyrinth, or of both together. This is caused by a chronic suppurative otitis media, mastoiditis, or cholesteatoma.


viral labyrinthitis

description: An labyrinthitis caused by infection with Viruses.


serous labyrinthitis

description: A labyrinthitits in which bacterial toxins invade the inner ear. It is the most common complication of acute or chronic middle ear infections.


infectious otitis interna

description: Inflammation of the anatomical structures of the inner ear secondary to an infectious process. Symptoms include severe vertigo, nausea, vomiting, anxiety, and pain. Viral etiology is most common, and recent history of an upper respiratory infection is common. In rare cases an infection of the middle ear can spread to the inner ear, resulting in a bacterial or fungal etiology.


purulent labyrinthitis

description: A labyrinthitis which is a bacterial infectious disease of the inner ear, often causing deafness and loss of vestibular function. This is caused when bacteria spread to the inner ear during the course of severe acute otitis media, purulent meningitis, or an enlarging cholesteatoma.


complement C3 N-glycosylated 7 (human)

A complement C3 (human) that has been N-glycosylated at the residue equivalent to Asn-85 of the amino acid sequence represented by UniProtKB:P01024-1, in which the glycan composition is represented by GlyTouCan:G31852PQ. Example: UniProtKB:P01024-1, Asn-85, MOD:00160~GNO:G31852PQ.


Recurrent Fibrosarcoma

description: The reemergence of fibrosarcoma after a period of remission.


name: Peritoneum injury with open wound into cavity

description: Trauma to the peritoneum associated with a break in the tissue that extends into the abdominal cavity.


mueller-weiss syndrome

description: A rare bone disease characterized by spontaneous adult-onset tarsal navicular osteonecrosis. Patients present with chronic mid- and hindfoot pain, swelling and tenderness over the dorsomedial aspect of the midfoot, flattening of the medial longitudinal arch, and pes planovarus. Radiographic findings include comma-shaped deformity due to collapse of the lateral part of the navicular bone and medial or dorsal protrusion of a portion or the entire bone. The condition may be bilateral or asymmetric and associated with pathological fractures.


plasminogen O-glycosylated 5 (human)

A plasminogen (human) that has been O-glycosylated at the residue equivalent to Ser-358 of the amino acid sequence represented by UniProtKB:P00747-1, in which the glycan composition is represented by GlyTouCan:G43417UB. Example: UniProtKB:P00747-1, Ser-358, MOD:00002~GNO:G43417UB.


name: neurotensin receptor type 2 isoform 1 (mouse)

description: A neurotensin receptor type 2 isoform 1 that is encoded in the genome of mouse.


name: sinus histiocytosis with massive lymphadenopathy

description: A rare disorder of unknown etiology characterized by distention of the lymph node sinuses and sinusoidal histiocytic infiltration. The histiocytes characteristically contain ingested lymphocytes. Patients present with cervical lymphadenopathy, fever, leukocytosis, and hypergammaglobulinemia. It can affect extranodal sites, including skin, bones, and the respiratory tract. It usually regresses spontaneously.


H syndrome

description: A systemic inherited histiocytosis, with characteristic cutaneous findings accompanying systemic manifestations. H syndrome refers to the major clinical findings of hyperpigmentation, hypertrichosis, hepatosplenomegaly, heart anomalies, hearing loss, hypogonadism, low height, and occasionally, hyperglycemia/diabetes mellitus. Due to overlapping clinical features, H syndrome is now considered to include pigmented hypertrichosis with insulin dependent diabetes mellitus syndrome (PHID), Faisalabad histiocytosis (FHC) and familial sinus histiocytosis with massive lymphadenopathy (FSHML).


candidiasis, invasive

description: A fungal infection by any of the Candida species in a sterile body compartment.


name: receptor tyrosine-protein kinase erbB-2 sequence variant T862A, signal peptide removed phosphotyrosine form (human)

description: A receptor tyrosine-protein kinase erbB-2 (human) that has an Ala residue at the position equivalent to Thr-862 of the amino acid sequence represented by UniProtKB:P04626-1, that has had the signal peptide removed, and that includes at least 1 phosphorylated tyrosine. Example: UniProtKB:P04626-1, 23-1255, Thr-862, CHEBI:46217|MOD:00048.


Recurrent Acute Monocytic Leukemia

description: The reemergence of acute monocytic leukemia after a period of remission.


Acute monocytic/monoblastic leukemia

description: Acute myeloid leukemia in which 80% or more of the leukemic cells are of monocytic lineage, including monoblasts, promonocytes, and monocytes. Bleeding disorders are common presenting features.


Childhood Acute Monoblastic Leukemia

description: An acute monoblastic leukemia occurring in children.


name: acute monoblastic/monocytic leukemia in relapse

description: The reemergence of acute monoblastic and monocytic leukemia after a period of remission.


Adult Acute Monoblastic Leukemia

description: An acute monoblastic leukemia occurring in adults.


name: Refractory Acute Monoblastic and Monocytic Leukemia

description: Acute monoblastic and monocytic leukemia that does not respond to treatment.


name: Adult Acute Monoblastic and Monocytic Leukemia

description: An acute monoblastic and monocytic leukemia occurring in adults.


adult acute monocytic leukemia

description: A acute monocytic leukemia that occurs in an adult.


aleukemic monocytic leukemia cutis

description: Aleukemic leukemia cutis where the skin in infiltrated by neoplastic monocytes.


Childhood Acute Monocytic Leukemia

description: An acute monocytic leukemia occurring in children.


name: Childhood Acute Monoblastic and Monocytic Leukemia

description: An acute monoblastic and monocytic leukemia occurring in children.


Tonic Neck Reflex

description: An involuntary, primal response in the neonate in which the arm extends to follow the infant's gaze, while the opposing arm and leg flex inward.


Developmental Finding

description: Symptoms, physical examination results, and/or laboratory test results related to physical, emotional, behavioral, or social development.


Iatrogenic Growth Failure

description: Growth failure due to medical intervention.


name: Periventricular Hemorrhage of the Newborn

description: Bleeding into the brain tissue adjacent to the lateral cerebral ventricles of newborn infant.


Sucking Reflex

description: An involuntary, primal response in the neonate when a nipple is placed on an infant's lips.


Step Reflex

description: An involuntary, primal response in the neonate to take brisk steps when the feet are placed on a surface whilst in a supported standing position.


Rooting Reflex

description: An involuntary, primal response in the neonate to search for the nipple when the cheek is touched.


Infantile Colic

description: Paroxysms of irritability, fussing or crying that starts and stops without obvious cause in an infant up to four months of age without failure to thrive. Episodes last three or more hours per day for at least three days per week for at least on week.


Fetus Large for Gestational Age

description: A fetus exceeding 90% of expected weight for gestational age.


name: Transient Leukemoid Reaction of the Newborn

description: Increased white blood cell count and increased neutrophil precursors resembling leukemia in a neonate or fetus. Often, this is a response to medications received, infection or Down syndrome.


Newborn or Infant Finding

description: Clinical, laboratory or molecular evidence, or absence of evidence of disease in a neonate or infant.


Failure to thrive in infant

description: A clinical finding indicating less than normal growth in infancy.


Growth Failure of Unknown Etiology

description: Subnormal linear growth rate in an infant, child or adolescent based on the normative values for the age and sex of the reference population; the cause of the growth failure is unknown.


name: Intraventricular (nontraumatic) hemorrhage, grade 1, of fetus and newborn

description: Bleeding into the thick layer of immature cells under the ependymal lining at the ventrolateral aspect of the lateral cerebral ventricles of a newborn.


Failure of Catch-Up Growth

description: Failure to achieve a linear growth rate sufficient to restore height to within the normative range for the reference population.


Infant Reflex

description: Primitive reflex actions that newborns display in response to specific stimuli. These reflexes are involuntary and most disappear as the infant matures.


Galant Reflex

description: An involuntary, primal response in the neonate in which a finger is run down one side of the spine and the neonate laterally flexes toward that side.


Grasp Reflex

description: An involuntary, primal response in the neonate to grasp the fingers when their palm is touched. This reflex is present until six months of age.


name: Intraparenchymal Hemorrhage of the Newborn

description: Bleeding into the brain tissue of a newborn infant.


Moro Reflex

description: An involuntary, primal response in the neonate to loud noise or the feeling of falling. The response is characterized by the infant's arms symmetrically spreading out to the side and then back to the midline, and involuntarily flexing the fingers and toes.


Plantar Grasp Reflex

description: A newborn reflex that is characterized by flexion of the toes when the sole of the foot is stroked.


Intolerance to infant formula

description: Inability to effectively digest or absorb the components of breast milk substitutes. Symptoms may include emesis, abdominal distension or diarrhea.


RD3-related retinopathy

description: Any retinopathy caused by variants in the RD3 gene.


Leber congenital amaurosis 12

description: Any Leber congenital amaurosis in which the cause of the disease is a mutation in the RD3 gene.


name: mitochondrial complex 1 deficiency, nuclear type 14


name: SNF-related serine/threonine-protein kinase cysteinylated 1 (human)

description: An SNF-related serine/threonine-protein kinase (human) that has been cysteinylated on the residue at the position equivalent to Cys-66 of the amino acid sequence represented by UniProtKB:Q9NRH2-1. Example: UniProtKB:Q9NRH2-1, Cys-66, MOD:00765.


name: coagulation factor VII N-glycosylated 10 (human)

description: A coagulation factor VII (human) that has been N-glycosylated at the residue equivalent to Asn-382 of the amino acid sequence represented by UniProtKB:P08709-1, in which the glycan structure is represented by GlyTouCan:G08146BT. Example: UniProtKB:P08709-1, Asn-382, MOD:00160~GNO:G08146BT.


name: RAF proto-oncogene serine/threonine-protein kinase sequence variant P261L phosphorylated 2 (human)

description: A RAF proto-oncogene serine/threonine-protein kinase (human) that has a Leu residue at the position equivalent to Pro-261 of the amino acid sequence represented by UniProtKB:P04049-1 and that has been phosphorylated on the residues at the positions equivalent to Ser-338, Tyr-341, Thr-491, Ser-494, and Ser-621. Example: UniProtKB:P04049-1, Pro-261, CHEBI:30006|Ser-338/Ser-494/Ser-621, MOD:00046|Tyr-341, MOD:00048|Thr-491, MOD:00047.


name: Resectable Adenocarcinoma of Unknown Primary

description: An adenocarcinoma of unknown primary that is amenable to surgical resection.


Resectable Carcinoma of Unknown Primary

description: A carcinoma of unknown primary that is amenable to surgical resection.


Nipple Sensation Change or Loss

description: Excessive sensitivity or changes in sensitivity in the nipple(s).


name: macrophage migration inhibitory factor deaminated 1 (human)

description: A macrophage migration inhibitory factor (human) that has been deaminated on the residue at the position equivalent to Asn-110 of the amino acid sequence represented by UniProtKB:P14174. UniProtKB:P14174, Asn-110, MOD:00684.


macrophage migration inhibitory factor

A protein that is a translation product of the human MIF gene or a 1:1 ortholog thereof.


name: macrophage migration inhibitory factor isoform 1 (human)

description: A macrophage migration inhibitory factor isoform 1 that is encoded in the genome of human.


name: macrophage migration inhibitory factor, initiator methionine removed form (human)

description: A macrophage migration inhibitory factor (human) that has had the initiator methionine removed. UniProtKB:P14174, 2-115.


name: macrophage migration inhibitory factor methylated 1 (human)

description: A macrophage migration inhibitory factor (human) that has been methylated on the residue at the position equivalent to Cys-81 of the amino acid sequence represented by UniProtKB:P14174. UniProtKB:P14174, Cys-81, MOD:00660.


Blanching

description: Transient pallor of the skin caused by reduced blood flow to the affected region.


secretory meningioma

description: A WHO grade I meningioma characterized by the presence of epithelial differentiation and numerous intracellular PAS positive bodies that are rich in glycogen.


Red cell adenylate kinase deficiency

description: An autosomal recessive disorder caused by mutation of the AK1 gene. It is associated with moderate to severe non-spherocytic hemolytic anemia and, in some cases, with intellectual disability and psychomotor impairment.


name: anemia due to erythrocyte enzyme disorder

description: Any form of anemia that results from the absence of, or the defective action of, any enzyme involved in erythropoiesis.


name: glycogen storage disease due to phosphoglycerate mutase deficiency

description: A rare, autosomal recessive, inherited disorder caused by mutation of the PGAM2 gene. It is characterized by non-spherocytic hemolytic anemia, exercise-induced cramping, myoglobinuria, and presence of tubular aggregates on muscle biopsy.


Deficiency of hexokinase (disorder)

description: A rare, autosomal recessive, inherited disorder caused by mutation of the HK1 gene. It is characterized by the early-onset of severe, non-spherocytic hemolytic anemia.


Glucose phosphate isomerase deficiency

description: A rare, autosomal recessive, inherited disorder caused by mutation of the GPI gene. It is characterized by chronic, non-spherocytic hemolytic anemia.


Deficiency of enolase

description: A rare, autosomal dominant, inherited disorder caused by mutation of the ENO1 gene. It is associated with spherocytic hemolytic anemia, exercise-induced myalgia and weakness.


triosephosphate isomerase deficiency

description: Triosephosphate isomerase (TPI) deficiency is a severe autosomal recessive inherited multisystem disorder of glycolytic metabolism characterized by hemolytic anemia and neurodegeneration.


name: hemolytic anemia due to diphosphoglycerate mutase deficiency

description: A rare, autosomal recessive, inherited disorder caused by mutation of the BPGM gene. It is characterized by hemolytic anemia and splenomegaly.


name: Uridine monophosphate hydrolase deficiency

description: An autosomal recessive disorder caused by mutation of the NT5C3A gene. It is the most frequent abnormality of red cell nucleotide metabolism, causing chronic, non-spherocytic hemolytic anemia. Most affected individuals have Mediterranean, Jewish, or African ancestry. Basophilic stippling and accumulation of pyrimidines within erythrocytes are hallmarks of this disorder.


thiocarbamic ester

Any organonitrogen compound with formula RS-C(=X)NH2 where X = O (monothiocarbamic esters) or S (dithiocarbamic esters), or their N-substituted derivatives.


monothiocarbamic ester

A thiocarbamic ester formally derived from a monothiocarbamic acid.


composite hemangioendothelioma

description: An intermediate, locally aggressive and rarely metastasizing blood vessel neoplasm. It is characterized by the presence of spindle, plump, and epithelioid endothelial cells and cellular atypia.


Intermediate Vascular Neoplasm

description: A vascular neoplasm with borderline malignant potential.


retiform hemangioendothelioma

description: An intermediate, locally aggressive and rarely metastasizing blood vessel neoplasm. It is characterized by the presence of hobnail endothelial cells and formation of arborizing vascular channels.


kaposiform hemangioendothelioma

description: Kaposiform hemangioendothelioma is a very rare, aggressive, vascular tumor manifesting in the neonatal period or in infancy as cutaneous vascular tumors to large infiltrative lesions.


name: Endovascular papillary angioendothelioma of childhood

description: A papillary intralymphatic angioendothelioma that occurs during childhood.


name: Intermediate (Locally Aggressive) Blood Vessel Neoplasm

description: A borderline blood vessel neoplasm that has locally aggressive behavior.


name: Pseudomyogenic (epithelioid sarcoma-like) hemangioendothelioma

description: An intermediate, rarely metastasizing blood vessel neoplasm that more frequently affects young adult males and usually arises in the lower limbs.  In approximately half of the affected patients the tumor is painful and in two-thirds of the patients the tumor is multifocal.  Morphologically it is characterized by the presence of sheets and fascicles of spindle cells with abundant eosinophilic cytoplasm and vesicular nuclei.  Cytologic atypia is usually mild.  Approximately 60% of the patients develop local recurrences or additional tumors in the same anatomic region.


name: Intermediate (Rarely Metastasizing) Blood Vessel Neoplasm

description: A borderline blood vessel neoplasm that may metastasize on rare occasions.


Intermediate Blood Vessel Neoplasm

description: A borderline blood vessel neoplasm that can be locally aggressive, and may metastasize on rare occasions.


description: A pseudomyogenic hemangioendothelioma that occurs during childhood.


description: An intermediate, rarely metastasizing blood vessel neoplasm. It is characterized by the presence of lymphatic-like vascular channels and papillary endothelial proliferation.


description: A kaposiform hemangioendothelioma that occurs during childhood.


Polymorphus Hemangioendothelioma

description: An intermediate, rarely metastasizing blood vessel neoplasm. It is characterized by the presence of a polymorphic cellular infiltrate.


mild ichthyosis vulgaris

description: An instance of ichthyosis vulgaris in which the disease presentation is mild in severity. Heterozygote FLG mutation carriers often have mild manifestations.


name: B-lymphocyte antigen CD19, signal peptide removed form (human)

description: A B-lymphocyte antigen CD19 (human) that has had the signal peptide removed. UniProtKB:P15391, 20-556.


name: B-lymphocyte antigen CD19, signal peptide removed phosphorylated 1 (human)

description: A B-lymphocyte antigen CD19 (human) that has had the signal peptide removed and has been post-translationally modified to include phosphotyrosine at positions 348, 378, 409, 439, 500 and 531 of the amino acid sequence represented by UniProtKB:P15391. UniProtKB:P15391, 20-556, Tyr-348/Tyr-378/Tyr-409/Tyr-439/Tyr-500/Tyr-531, MOD:00048.


undecaprenyl-diphosphatase

A protein that is a translation product of the Escherichia coli K-12 uppP gene or a 1:1 ortholog thereof.


UMP-CMP kinase isoform h2 (human)

A UMP-CMP kinase (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P30085-2.


UMP-CMP kinase isoform h3 (human)

A UMP-CMP kinase (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P30085-3.


UMP-CMP kinase isoform h1 (human)

A UMP-CMP kinase (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P30085-1.


Elevated Expression

description: An indication that the expression of a gene, transcript or protein is higher than a previous value or a normal range of values.


TP53 Overexpression Positive

description: An indication that overexpression of TP53 has been detected in a sample.


Melanosomal Genes Overexpression

description: An indication that overexpression of genes involved in melanosomal biogenesis or melanin biosynthesis has been detected in a sample.


TBX21 Overexpression Positive

description: An indication that overexpression of T-box 21 (TBX21) has been detected in a sample.


MiRNA 371-373 Overexpression

description: An indication that microRNAs found in the miRNA 371-373 cluster are overexpressed in a sample.


Achaete-Scute Homolog 1 Overexpression

description: An indication that overexpression of achaete-scute homolog 1 has been detected in a sample.


name: Fibroblast Growth Factor 1 Overexpression


BCL2 Overexpression Positive

description: An indication that overexpression of BCL2 has been detected in a sample.


name: Presence of ERBB2 Overexpressing Disseminated Tumor Cells

description: An indication that single tumor cells or small clusters of tumor cells that are overexpressing ERBB2 are present in a tissue sample.


Elevated ALCAM

description: A finding indicating elevated concentrations of ALCAM in a sample.


BCL6 Overexpression Positive

description: An indication that overexpression of BCL6 has been detected in a sample.


name: Interleukin-6 Greater than or Equal to 80 pg/ml

description: A finding indicating that the concentration of the interleukin-6 in a sample is greater than or equal to 80 pg/mL.


THBS1 Overexpression Positive

description: An indication that overexpression of THBS1 has been detected in a sample.


HIF1A Overexpression Positive

description: An indication that overexpression of HIF1A has been detected in a sample.


MYC Overexpression

description: An indication that overexpression of the MYC gene has been detected in a sample.


HRAS Overexpression Positive

description: An indication that overexpression of HRAS has been detected in a sample.


Elevated SLC34A2 Positive

description: A finding indicating detection of elevated expression of SLC34A2 in a sample.


name: Neurogenic Differentiation Factor 1 Overexpression

description: An indication that overexpression of neurogenic differentiation factor 1 has been detected in a sample.


FGFR1 Overexpression Positive

description: An indication that overexpression of FGFR1 has been detected in a sample.


name: Transforming Growth Factor-Beta Overexpression


Elevated CCR8 Expression

description: A finding indicating elevated levels of expression of CCR8 were detected in a sample.


NY-ESO-1 Overexpression Positive

description: An indication that overexpression of NY-ESO-1 has been detected in a sample.


Elevated MET Protein Expression

description: An indication that elevated concentrations of MET protein were found in a sample.


MET Overexpression Positive

description: An indication that overexpression of MET has been detected in a sample.


name: Elevated Inflammatory Gene Signature Expression

description: A genetic finding indicating that tumor cells express elevated levels of genes encoding proteins involved in inflammation and immunity. This signature may include elevated expression of genes involved in interferon signaling, antigen presentation, immune checkpoint regulation and/or the differentiation and activation of cytotoxic T-cells.


VEGF Overexpression Positive

description: An indication that overexpression of a member of the VEGF family has been detected in a sample.


FGFR3 Overexpression Positive

description: An indication that overexpression of FGFR3 has been detected in a sample.


AXL Overexpression Positive

description: An indication that overexpression of AXL has been detected in a sample.


POU Class 2 Homeobox 3 Overexpression

description: An indication that overexpression of POU class 2 homeobox 3 has been detected in a sample.


NTRK1 Overexpression Positive

description: An indication that overexpression of NTRK1 has been detected in a sample.


FGF23 Overexpression Positive

description: An indication that overexpression of FGF23 has been detected in a sample.


name: Fibroblast Growth Factor 2 Overexpression


EZHIP Overexpression Positive

description: An indication that overexpression of EZHIP has been detected in a sample.


Yes-Associated Protein 1 Overexpression

description: An indication that overexpression of yes-associated protein 1 has been detected in a sample.


name: Sonic Hedgehog Pathway Genes Overexpression

description: An indication that overexpression of one or more genes in the sonic hedgehog (SHH) pathway has been detected in a sample.


FGFR2 Overexpression Positive

description: An indication that overexpression of FGFR2 has been detected in a sample.


GRPR Overexpression Positive

description: An indication that overexpression of GRPR has been detected in a sample.


GATA3 Overexpression Positive

description: An indication that overexpression of GATA3 has been detected in a sample.


ERBB2 Overexpression

description: An indication that overexpression of ERBB2 has been detected in a sample.


KIT Overexpression Positive

description: An indication that overexpression of KIT has been detected in a sample.


NECTIN4 Overexpression Positive

description: An indication that overexpression of NECTIN4 has been detected in a sample.


name: Grade 1 Lymphocyte Count Decreased, CTCAE

description: <LLN-800/mm3; <LLN-0.8 x 10e9/L


Hemolymphangioma

description: A hemorrhagic lymphatic lesion characterized by the presence of dilated lymphatic spaces, extravasation of red blood cells, hemosiderin deposition, and fibrosis.


name: Grade 3 Fallopian Tube Infection with Normal Absolute Neutrophil Count or Grade 1 or 2 Neutrophils, CTCAE


name: cation-independent mannose-6-phosphate receptor deaminated 11 (human)

description: A cation-independent mannose-6-phosphate receptor (human) that has been deaminated on the residue at the position equivalent to Asn-747 of the amino acid sequence represented by UniProtKB:P11717. UniProtKB:P11717, Asn-747, MOD:00684.


name: Stage IIIA Childhood Testicular Germ Cell Tumor by Toronto Guidelines v2

description: Any pT, Any N, M1, S0, S1. (Childhood cancer staging for population registries according to the Toronto Childhood Cancer Stage Guidelines - Version 2. Cancer Council Queensland and Cancer Australia: Brisbane, Australia; 2021.)


chilblain lupus 1

description: Any chilblain lupus in which the cause of the disease is a mutation in the TREX1 gene.


chronic cutaneous lupus erythematosus

description: Chronic cutaneous lupus erythematosus (CCLE) is a form of cutaneous lupus erythematosus (CLE) that includes five different forms: discoid lupus erythematosus (DLE), chilblain lupus, hypertrophic or verrucous lupus erythematosus, lupus erythematosus tumidus, and lupus erythematosus panniculitis.


name: hypertrophic or verrucous lupus erythematosus


familial chilblain lupus

description: An instance of Chilblain lupus that is caused by an inherited modification of the individual's genome.


lupus erythematosus panniculitis

description: A type of lupus erythematosus characterized by deep dermal or subcutaneous nodules, most often on the head, face, or upper arms. It is generally chronic and occurs most often in women between the ages of 20 and 45.


chilblain lupus 2

description: Any chilblain lupus in which the cause of the disease is a mutation in the SAMHD1 gene.


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.


(R)-ICLAPRIM

A 5-[(2-cyclopropyl-7,8-dimethoxy-2H-chromen-5-yl)methyl]pyrimidine-2,4-diamine in which the chiral centre has R configuration.


Angelucci syndrome

description: Atopic conjunctivitis that is of relatively short duration and that has a rapid onset.


acute conjunctivitis

description: Acute inflammation of the conjunctiva.


acute contagious conjunctivitis

description: Acute inflammation of the conjunctiva characterized by pink or red color in the eyes.


name: RAF proto-oncogene serine/threonine-protein kinase sequence variant P261T phosphorylated 2 (human)

description: A RAF proto-oncogene serine/threonine-protein kinase (human) that has a Thr residue at the position equivalent to Pro-261 of the amino acid sequence represented by UniProtKB:P04049-1 and that has been phosphorylated on the residues at the positions equivalent to Ser-338, Tyr-341, Thr-491, Ser-494, and Ser-621. Example: UniProtKB:P04049-1, Pro-261, CHEBI:30013|Ser-338/Ser-494/Ser-621, MOD:00046|Tyr-341, MOD:00048|Thr-491, MOD:00047.


name: NADH-ubiquinone oxidoreductase 75 kDa subunit, mitochondrial isoform h4 (human)

description: An NADH-ubiquinone oxidoreductase 75 kDa subunit, mitochondrial (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P28331-4.


name: uridine-cytidine kinase 2 isoform 1 (human)

description: A uridine-cytidine kinase 2 isoform 1 that is encoded in the genome of human.


name: NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 6

description: A protein that is a translation product of the human NDUFB6 gene or a 1:1 ortholog thereof.


name: glucocorticoid receptor isoform hAlpha-D1 (human)

description: A glucocorticoid receptor (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P04150-14.


name: 5-hydroxytryptamine receptor 4 isoform 5-HT4(E) (mouse)

description: A 5-hydroxytryptamine receptor 4 isoform 3 that is encoded in the genome of mouse.


integrin alpha-IIb deaminated 1 (human)

An integrin alpha-IIb (human) that has been deaminated on the residue at the position equivalent to Asn-711 of the amino acid sequence represented by UniProtKB:P08514-1. Example: UniProtKB:P08514-1, Asn-711, MOD:00684.


name: voltage-dependent P/Q-type calcium channel subunit alpha-1A isoform r3 (rat)

description: A voltage-dependent P/Q-type calcium channel subunit alpha-1A (rat) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P54282-3.


name: nuclear receptor subfamily 1 group I member 3 isoform h2 (human)

description: A nuclear receptor subfamily 1 group I member 3 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q14994-2.


histamine N-methyltransferase

A protein that is a translation product of the human HNMT gene or a 1:1 ortholog thereof.


name: voltage-dependent L-type calcium channel subunit alpha-1C isoform h17 (human)

description: A voltage-dependent L-type calcium channel subunit alpha-1C (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q13936-17.


name: serine/threonine-protein kinase D2 phosphorylated 2 (human)

description: A serine/threonine-protein kinase D2 (human) that has been phosphorylated on the residue at the position equivalent to Thr-589 of the amino acid sequence represented by UniProtKB:Q9BZL6-1. Example: UniProtKB:Q9BZL6-1, Thr-589, MOD:00047.


name: ubiquitin carboxyl-terminal hydrolase 1 methylated 1 (human)

description: A ubiquitin carboxyl-terminal hydrolase 1 (human) that has been methylated on the residue at the position equivalent to Cys-206 of the amino acid sequence represented by UniProtKB:O94782. UniProtKB:O94782, Cys-206, MOD:00660.


name: voltage-gated potassium channel subunit KCNQ1 sequence variant L353P (human)

description: A potassium voltage-gated channel subfamily KQT member 1 (human) that has a Pro residue at the position equivalent to Leu-353 of the amino acid sequence represented by UniProtKB:P51787-1. Example: UniProtKB:P51787-1, Leu-353, CHEBI:50342.


angiotensin II receptor 2

An angiotensin II receptor that is a translation product of the human AGTR2 gene or a 1:1 ortholog thereof.


name: potassium voltage-gated channel subfamily C member 2 isoform r4 (rat)

description: A potassium voltage-gated channel subfamily C member 2 (rat) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P22462-4.


name: retinoic acid receptor RXR-beta isoform h1 (human)

description: A retinoic acid receptor RXR-beta (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P28702-1.


name: 7-dehydrocholesterol reductase glutathionylated 1 (human)

description: A 7-dehydrocholesterol reductase (human) that has been glutathionylated on the residue at the position equivalent to Cys-298 of the amino acid sequence represented by UniProtKB:Q9UBM7. UniProtKB:Q9UBM7, Cys-298, MOD:00234.


angiopoietin-2 isoform h2 (human)

An angiopoietin-2 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:O15123-3.


name: gamma-aminobutyric acid receptor subunit epsilon

description: A GABA(A) receptor protein that is a translation product of the human GABRE gene or a 1:1 ortholog thereof.


name: sodium/nucleoside cotransporter 1 isoform h1 (human)

description: A sodium/nucleoside cotransporter 1 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:O00337-1.


name: complement C1s subcomponent, signal peptide removed form (human)

description: A complement C1s subcomponent (human) that has had the signal peptide removed. UniProtKB:P09871, 16-688.


name: transcription factor p65 isoform h3 (human)

description: A transcription factor p65 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q04206-3.


name: epidermal growth factor receptor sequence variant A289D, signal peptide removed form (human)

description: An epidermal growth factor receptor (human) that has an Asp residue at the position equivalent to Ala-289 of the amino acid sequence represented by UniProtKB:P00533-1 and that has had the signal peptide removed. Example: UniProtKB:P00533-1, 25-1210, Ala-289, CHEBI:29958.


name: serine/threonine-protein kinase TBK1 phosphorylated 1 (human)

description: A serine/threonine-protein kinase TBK1 phosphorylated 1 in human. UniProtKB:Q9UHD2, Ser-172, MOD:00046.


name: gamma-aminobutyric acid receptor subunit beta-3 isoform 1 (mouse)

description: A gamma-aminobutyric acid receptor subunit beta-3 isoform 1 that is encoded in the genome of mouse.


voltage-gated potassium channel KCNS3

A modulatory voltage-gated potassium channel subunit KCNS that is a translation product of the human KCNS3 gene or a 1:1 ortholog thereof.


name: mast/stem cell growth factor receptor Kit sequence variant N822T, signal peptide removed phosphorylated 1 (human)

description: A mast/stem cell growth factor receptor Kit (human) that has a Thr residue at the position equivalent to Asn-822 of the amino acid sequence represented by UniProtKB:P10721-1, that has had the signal peptide removed, and that has been phosphorylated on the residues at the positions equivalent to Tyr-568, Tyr-570, Tyr-703, Tyr-721, Tyr-730, Tyr-823, and Tyr-936. Example: UniProtKB:P10721-1, 26-976, Tyr-568/Tyr-570/Tyr-703/Tyr-721/Tyr-730/Tyr-823/Tyr-936, MOD:00048|Asn-822, CHEBI:30013.


name: vascular endothelial growth factor receptor 2, signal peptide removed phosphorylated 2 (human)

description: A vascular endothelial growth factor receptor 2 (human) that has had the signal peptide removed and has been post-translationally modified to include phosphotyrosine at positions 801, 951, 1054, 1059, 1175 and 1214 of the amino acid sequence represented by UniProtKB:P35968. UniProtKB:P35968, 20-1356, Tyr-801/Tyr-951/Tyr-1054/Tyr-1059/Tyr-1175/Tyr-1214, MOD:00048.


ileal sodium/bile acid cotransporter

A protein that is a translation product of the human SLC10A2 gene or a 1:1 ortholog thereof.


glutathione reductase, mitochondrial

A protein that is a translation product of the human GSR gene or a 1:1 ortholog thereof.


name: serine/threonine-protein kinase Chk1 isoform 1 (human)

description: A serine/threonine-protein kinase Chk1 isoform 1 that is encoded in the genome of human.


name: vascular endothelial growth factor receptor 2 isoform 1 (human)

description: A vascular endothelial growth factor receptor 2 isoform 1 that is encoded in the genome of human.


name: histone deacetylase 9 isoform h3 (human)

description: A histone deacetylase 9 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q9UKV0-3.


name: RAF proto-oncogene serine/threonine-protein kinase sequence variant G370R phosphorylated 2 (human)

description: A RAF proto-oncogene serine/threonine-protein kinase (human) that has an Arg residue at the position equivalent to Gly-370 of the amino acid sequence represented by UniProtKB:P04049-1 and that has been phosphorylated on the residues at the positions equivalent to Ser-338, Tyr-341, Thr-491, Ser-494, and Ser-621. Example: UniProtKB:P04049-1, Ser-338/Ser-494/Ser-621, MOD:00046|Tyr-341, MOD:00048|Gly-370, CHEBI:29952|Thr-491, MOD:00047.


name: ATP-dependent RNA helicase DDX1 isoform h3 (human)

description: An ATP-dependent RNA helicase DDX1 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q92499-3.


dual specificity protein kinase CLK2

A protein that is a translation product of the human CLK2 gene or a 1:1 ortholog thereof.


name: plasminogen activator inhibitor 1 N-glycosylated 2 (human)

description: A plasminogen activator inhibitor 1 (human) that has been N-glycosylated at the residue equivalent to Asn-288 of the amino acid sequence represented by UniProtKB:P05121-1, in which the glycan composition is represented by GlyTouCan:G49955PK. Example: UniProtKB:P05121-1, Asn-288, MOD:00160~GNO:G49955PK.


name: Q6P5P0_MOUSE Purinergic receptor P2X, ligand-gated ion channel, 7 (trembl)

description: A P2X purinoceptor 7 (mouse) that is encoded in the genome of mouse that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q6P5P0. This form is shorter compared to isoform a.


name: platelet glycoprotein VI deaminated 1 (human)

description: A platelet glycoprotein VI (human) that has been deaminated on the residue at the position equivalent to Gln-49 of the amino acid sequence represented by UniProtKB:Q9HCN6-1. Example: UniProtKB:Q9HCN6-1, Gln-49, MOD:00685.


thyroid peroxidase isoform h2-4 (human)

A thyroid peroxidase (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P07202-8.


name: ribosomal protein S6 kinase alpha-4 isoform 1 (human)

description: A ribosomal protein S6 kinase alpha-4 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:O75676-1.


name: immunoglobulin heavy constant epsilon N-glycosylated 18 (human)

description: An immunoglobulin heavy constant epsilon (human) that has been N-glycosylated at the residue equivalent to Asn-49 of the amino acid sequence represented by UniProtKB:P01854-2, in which the glycan structure is represented by GlyTouCan:G08146BT. Example: UniProtKB:P01854-2, Asn-49, MOD:00160~GNO:G08146BT.


name: signal transducer and activator of transcription 3, initiator methionine removed phosphorylated 1 (human)

description: A signal transducer and activator of transcription 3 (human) that has had the initiator methionine removed and that has been phosphorylated on the residue at the position equivalent to Tyr-705 of the amino acid sequence represented by UniProtKB:P40763-1. Example: UniProtKB:P40763-1, 2-770, Tyr-705, MOD:00048.


name: metabotropic glutamate receptor 3 N-glycosylated 10 (rat)

description: A metabotropic glutamate receptor 3 (rat) that has been N-glycosylated at the residue equivalent to Asn-439 of the amino acid sequence represented by UniProtKB:P31422-1, in which the glycan composition is represented by GlyTouCan:G02815KT. Example: UniProtKB:P31422-1, Asn-439, MOD:00160~GNO:G02815KT.


tryptase alpha/beta-1

A trypsin that is a translation product of the human TPSAB1 gene or a 1:1 ortholog thereof.


name: DNA-dependent protein kinase catalytic subunit phosphorylated 2 (human)

description: A DNA-dependent protein kinase catalytic subunit (human) that has been post-translationally modified to include phosphothreonine at positions 2609, 2638 and 2647, and phosphoserine at position 2612 of the amino acid sequence represented by UniProtKB:P78527. UniProtKB:P78527, Thr-2609/Thr-2638/Thr-2647, MOD:00047|Ser-2612, MOD:00046.


name: sigma non-opioid intracellular receptor 1 isoform 4 (human)

description: A sigma non-opioid intracellular receptor 1 isoform 4 that is encoded in the genome of human.


name: coagulation factor XI N-glycosylated 6 (human)

description: A coagulation factor XI (human) that has been N-glycosylated at the residue equivalent to Asn-491 of the amino acid sequence represented by UniProtKB:P03951-1, in which the glycan structure is represented by GlyTouCan:G57818FI. Example: UniProtKB:P03951-1, Asn-491, MOD:00160~GNO:G57818FI.


name: cGMP-gated cation channel alpha-1 isoform 1 phosphorylated 1 (cow)

description: A cGMP-gated cation channel alpha-1 isoform 1 phosphorylated 1 in cow. UniProtKB:Q00194-1, Tyr-498, MOD:00048.


name: dual specificity protein kinase CLK3 isoform 1 (human)

description: A dual specificity protein kinase CLK3 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P49761-1.


name: coagulation factor IX O-glycosylated 2 (human)

description: A coagulation factor IX (human) that has been O-glycosylated at the residue equivalent to Thr-218 of the amino acid sequence represented by UniProtKB:P00740-1, in which the glycan composition is represented by GlyTouCan:G43417UB. Example: UniProtKB:P00740-1, Thr-218, MOD:00005~GNO:G43417UB.


mitogen-activated protein kinase

A protein that is a serine/threonine-specific protein kinase that responds to extracellular stimuli (mitogens) and regulates cellular activities such as gene expression, mitosis, differentiation, and cell survival/apoptosis. The activated form phosphorylates target substrates on Ser or Thr residues followed by a proline. A distinguishing feature is the conserved sequence TxY.


name: antithrombin-III, signal peptide removed form (human)

description: An antithrombin-III (human) that has had the signal peptide removed. UniProtKB:P01008, 33-464.


name: low molecular weight phosphotyrosine protein phosphatase isoform h4 (human)

description: A low molecular weight phosphotyrosine protein phosphatase (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P24666-4.


name: folylpolyglutamate synthase, mitochondrial isoform h3 (human)

description: A folylpolyglutamate synthase, mitochondrial (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q05932-3.


adenosylhomocysteinase

A protein that is a translation product of the human AHCY gene or a 1:1 ortholog thereof.


name: mast/stem cell growth factor receptor Kit sequence variant W557R, signal peptide removed form (human)

description: A mast/stem cell growth factor receptor Kit (human) that has an Arg residue at the position equivalent to Trp-557 of the amino acid sequence represented by UniProtKB:P10721-1 and that has had the signal peptide removed. Example: UniProtKB:P10721-1, 26-976, Trp-557, CHEBI:29952.


name: sodium channel subunit beta-4 isoform h2 (human)

description: A sodium channel subunit beta-4 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q8IWT1-2.


name: inosine-5'-monophosphate dehydrogenase 1 isoform h3 (human)

description: An inosine-5'-monophosphate dehydrogenase 1 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P20839-3.


name: phosphatidylinositol 3-kinase regulatory subunit alpha deaminated 1 (human)

description: A phosphatidylinositol 3-kinase regulatory subunit alpha (human) that has been deaminated on the residue at the position equivalent to Gln-415 of the amino acid sequence represented by UniProtKB:P27986-1. Example: UniProtKB:P27986-1, Gln-415, MOD:00685.


name: interleukin-31 receptor subunit alpha, signal peptide removed form (human)

description: An interleukin-31 receptor subunit alpha (human) that has had the signal peptide removed. UniProtKB:Q8NI17, 20-732.


name: voltage-dependent T-type calcium channel subunit alpha-1G isoform h32 (human)

description: A voltage-dependent T-type calcium channel subunit alpha-1G (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:O43497-33.


name: histone deacetylase 8 isoform h6 (human)

description: A histone deacetylase 8 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q9BY41-6.


name: G-protein coupled receptor family C group 6 member A isoform h3 (human)

description: A G-protein coupled receptor family C group 6 member A (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q5T6X5-3.


name: glutamate carboxypeptidase 2 isoform hPSMA-7 (human)

description: A glutamate carboxypeptidase 2 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q04609-7.


name: folylpolyglutamate synthase, mitochondrial methylated 1 (human)

description: A folylpolyglutamate synthase, mitochondrial (human) that has been methylated on the residue at the position equivalent to Cys-439 of the amino acid sequence represented by UniProtKB:Q05932-1. Example: UniProtKB:Q05932-1, Cys-439, MOD:00660.


name: tubulin beta-3 chain polyglycylated form (human)

description: A tubulin beta-3 chain (human) that includes at least 1 polyglycylated glutamate. UniProtKB:Q13509, MOD:00206.


name: NACHT, LRR and PYD domains-containing protein 3

description: A protein that is a translation product of the human NLRP3 gene or a 1:1 ortholog thereof.


cannabinoid receptor 2 isoform 1 (rat)

A cannabinoid receptor 2 isoform 1 that is encoded in the genome of rat.


name: neuronal acetylcholine receptor subunit beta-4

description: A nicotinic acetylcholine receptor protein that is a translation product of the human CHRNB4 gene or a 1:1 ortholog thereof.


name: heat shock protein 75 kDa, mitochondrial

description: An HSPC protein that is a translation product of the human TRAP1 gene or a 1:1 ortholog thereof.


name: glucocorticoid receptor isoform GR-A beta (human)

description: A glucocorticoid receptor (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P04150-7.


name: DNA polymerase epsilon catalytic subunit A deaminated 1 (human)

description: A DNA polymerase epsilon catalytic subunit A (human) that has been deaminated on the residue at the position equivalent to Gln-1408 of the amino acid sequence represented by UniProtKB:Q07864. UniProtKB:Q07864, Gln-1408, MOD:00685.


name: NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 11, initiator methionine removed form (human)

description: An NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 11 (human) that has had the initiator methionine removed. UniProtKB:Q86Y39, 2-141.


name: receptor-interacting serine/threonine-protein kinase 1 phosphoserine form (human)

description: A receptor-interacting serine/threonine-protein kinase 1 (human) that includes at least one phosphorylated serine. UniProtKB:Q13546, MOD:00046.


name: coagulation factor X N-glycosylated 19 (human)

description: A coagulation factor X (human) that has been N-glycosylated at the residue equivalent to Asn-231 of the amino acid sequence represented by UniProtKB:P00742-1, in which the glycan structure is represented by GlyTouCan:G36191CD. Example: UniProtKB:P00742-1, Asn-231, MOD:00160~GNO:G36191CD.


name: glutathione reductase isoform y2 (yeast)

description: A glutathione reductase (yeast) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P41921-2.


name: serine/threonine-protein kinase PAK 1 methylated 1 (human)

description: A serine/threonine-protein kinase PAK 1 (human) that has been methylated on the residue at the position equivalent to Cys-373 of the amino acid sequence represented by UniProtKB:Q13153-1. Example: UniProtKB:Q13153-1, Cys-373, MOD:00660.


name: vitamin K-dependent gamma-carboxylase O-glycosylated 1 (human)

description: A vitamin K-dependent gamma-carboxylase (human) that has been O-glycosylated at the residue equivalent to Thr-653 of the amino acid sequence represented by UniProtKB:P38435-1, in which the glycan composition is represented by GlyTouCan:G43417UB. Example: UniProtKB:P38435-1, Thr-653, MOD:00005~GNO:G43417UB.


name: tyrosine-protein kinase ABL2 phosphorylated 1 (human)

description: A tyrosine-protein kinase ABL2 (human) that has been phosphorylated on the residue at the position equivalent to Thr-452 of the amino acid sequence represented by UniProtKB:P42684-1. Example: UniProtKB:P42684-1, Thr-452, MOD:00047.


casein kinase II subunit alpha

A protein that is a translation product of the human CSNK2A1 gene or a 1:1 ortholog thereof.


name: receptor tyrosine-protein kinase erbB-2 sequence variant L755W, signal peptide removed phosphorylated 1 (human)

description: A receptor tyrosine-protein kinase erbB-2 (human) that has a Trp residue at the position equivalent to Leu-755 of the amino acid sequence represented by UniProtKB:P04626-1, that has had the signal peptide removed, and that has been phosphorylated on the residues at the positions equivalent to Tyr-1023, Tyr-1139, Tyr-1196, Tyr-1221, Tyr-1222, and Tyr-1248. Example: UniProtKB:P04626-1, 23-1255, Leu-755, CHEBI:29954|Tyr-1023/Tyr-1139/Tyr-1196/Tyr-1221/Tyr-1222/Tyr-1248, MOD:00048.


name: receptor tyrosine-protein kinase erbB-4 isoform hJM-B CYT-2 (human)

description: A receptor tyrosine-protein kinase erbB-4 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q15303-4.


name: cytosolic endo-beta-N-acetylglucosaminidase isoform h2 (human)

description: A cytosolic endo-beta-N-acetylglucosaminidase (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q8NFI3-2.


name: alpha-galactosidase A, signal peptide removed form (human)

description: An alpha-galactosidase A (human) that has had the signal peptide removed. UniProtKB:P06280, 32-429.


name: phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit alpha isoform sequence variant Q546L (human)

description: A phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit alpha isoform (human) that has a Leu residue at the position equivalent to Gln-546 of the amino acid sequence represented by UniProtKB:P42336. UniProtKB:P42336, Gln-546, CHEBI:30006.


von Willebrand factor isoform 1 (human)

A von Willebrand factor isoform 1 that is encoded in the genome of human.


name: TRAF2 and NCK-interacting protein kinase

description: A protein that is a translation product of the human TNIK gene or a 1:1 ortholog thereof.


solute carrier family 15 member 1

A protein that is a translation product of the human SLC15A1 gene or a 1:1 ortholog thereof.


name: cyclin-dependent kinase 13 isoform h1 (human)

description: A cyclin-dependent kinase 13 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q14004-1.


name: voltage-gated potassium channel KCNV2 sequence variant W188C (human)

description: A potassium voltage-gated channel subfamily V member 2 (human) that has a Cys residue at the position equivalent to Trp-188 of the amino acid sequence represented by UniProtKB:Q8TDN2. UniProtKB:Q8TDN2, Trp-188, CHEBI:29950.


BMP receptor type-1A

A TGF-beta superfamily receptor type-1 that is a translation product of the human BMPR1A gene or a 1:1 ortholog thereof. Bone morphogenetic protein (BMP) signals are transmitted by type 2 and type 1 serine/threonine kinase receptors. Type 2 receptors phosphorylate and activate type 1 receptors which autophosphorylate, then bind and activate SMAD transcriptional regulators. Receptor for BMP2 and BMP4.


complement C3 N-glycosylated 19 (human)

A complement C3 (human) that has been N-glycosylated at the residue equivalent to Asn-939 of the amino acid sequence represented by UniProtKB:P01024-1, in which the glycan composition is represented by GlyTouCan:G00912UN. Example: UniProtKB:P01024-1, Asn-939, MOD:00160~GNO:G00912UN.


name: sodium channel subunit beta-1, signal peptide removed form (human)

description: A sodium channel subunit beta-1 (human) that has had the signal peptide removed. UniProtKB:Q07699, 19-218.


name: mitogen-activated protein kinase kinase kinase 1 cysteinylated 2 (human)

description: A mitogen-activated protein kinase kinase kinase 1 (human) that has been cysteinylated on the residue at the position equivalent to Cys-643 of the amino acid sequence represented by UniProtKB:Q13233. UniProtKB:Q13233, Cys-643, MOD:00765.


retinoic acid receptor beta

A protein that is a translation product of the human RARB gene or a 1:1 ortholog thereof.


name: amyloid-beta precursor protein sequence variant V717F (human)

description: An amyloid-beta precursor protein sequence variant (human) that has a Phe residue at the position equivalent to Val-717 of the amino acid sequence represented by UniProtKB:P05067-1. Example: UniProtKB:P05067-1, Val-717, CHEBI:29997.


thymidylate synthase isoform h2 (human)

A thymidylate synthase (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P04818-2.


name: stromal cell-derived factor 1 isoform Beta (human)

description: A stromal cell-derived factor 1 isoform Beta that is encoded in the genome of human.


dynamin-1 isoform 2 (human)

A dynamin-1 isoform aa that is encoded in the genome of human.


name: microtubule-associated protein tau isoform Tau-F phosphorylated form (human)

description: A microtubule-associated protein tau isoform Tau-F phosphorylated form in human.


A protein that is a translation product of the human FTO gene or a 1:1 ortholog thereof.


name: tubulin beta-4B chain deaminated 1 (human)

description: A tubulin beta-4B chain (human) that has been deaminated on the residue at the position equivalent to Gln-384 of the amino acid sequence represented by UniProtKB:P68371. UniProtKB:P68371, Gln-384, MOD:00685.


name: nitric oxide synthase 1 isoform h1 (human)

description: A nitric oxide synthase 1 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P29475-1.


name: B-lymphocyte antigen CD20 isoform h1 (human)

description: A B-lymphocyte antigen CD20 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P11836-1.


name: cAMP-dependent protein kinase catalytic subunit alpha

description: A cAMP-dependent protein kinase catalytic subunit that is a translation product of the human PRKACA gene or a 1:1 ortholog thereof.


name: 5-hydroxytryptamine receptor 3A isoform m5-HT3R-AS (mouse)

description: A 5-hydroxytryptamine receptor 3A (mouse) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P23979-2.


name: immunoglobulin heavy constant gamma 4 deaminated 1 (human)

description: An immunoglobulin heavy constant gamma 4 (human) that has been deaminated on the residue at the position equivalent to Asn-84 of the amino acid sequence represented by UniProtKB:P01861-2. Example: UniProtKB:P01861-2, Asn-84, MOD:00684.


name: UDP-glucuronosyltransferase 1A1, signal peptide removed form (human)

description: A UDP-glucuronosyltransferase 1A1 (human) that has had the signal peptide removed. UniProtKB:P22309, 26-533.


name: ephrin type-A receptor 6 isoform h3 (human)

description: An ephrin type-A receptor 6 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q9UF33-3.


name: thiamine-triphosphatase, initiator methionine removed form (human)

description: A thiamine-triphosphatase (human) that has had the initiator methionine removed. UniProtKB:Q9BU02, 2-230.


name: serine/threonine-protein kinase Nek2 isoform h2 (human)

description: A serine/threonine-protein kinase Nek2 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P51955-2.


influenzavirus hemagglutinin

A protein that is a translation product of the Influenza A virus (strain A/Puerto Rico/8/1934 H1N1) HA gene or a 1:1 ortholog thereof.


name: cyclin-dependent kinase 11B isoform hSV10 (human)

description: A cyclin-dependent kinase 11B (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P21127-9.


name: 5'-AMP-activated protein kinase subunit beta-1, initiator methionine removed form (human)

description: A 5'-AMP-activated protein kinase subunit beta-1 (human) that has had the initiator methionine removed. UniProtKB:Q9Y478, 2-270.


name: epidermal growth factor receptor sequence variant A289T, signal peptide removed phosphorylated 1 (human)

description: An epidermal growth factor receptor (human) that has a Thr residue at the position equivalent to Ala-289 of the amino acid sequence represented by UniProtKB:P00533-1, that has had the signal peptide removed, and that has been phosphorylated on the residues at the positions equivalent to Tyr-1016, Tyr-1069, Tyr-1092, Tyr-1110, Tyr-1172, and Tyr-1197. Example: UniProtKB:P00533-1, 25-1210, Ala-289, CHEBI:30013|Tyr-1016/Tyr-1069/Tyr-1092/Tyr-1110/Tyr-1172/Tyr-1197, MOD:00048.


complement C3b alpha' chain (human)

A complement C3b alpha' chain in human. UniProtKB:P01024, 749-1663.


name: macrophage-stimulating protein receptor isoform Delta-RON (human)

description: A macrophage-stimulating protein receptor (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q04912-2.


name: glutamate carboxypeptidase 2 isoform h10 (human)

description: A glutamate carboxypeptidase 2 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q04609-10.


name: tissue-type plasminogen activator N-glycosylated 56 (human)

description: A tissue-type plasminogen activator (human) that has been N-glycosylated at the residue equivalent to Asn-219 of the amino acid sequence represented by UniProtKB:P00750-1, in which the glycan structure is represented by GlyTouCan:G68758PE. Example: UniProtKB:P00750-1, Asn-219, MOD:00160~GNO:G68758PE.


name: coagulation factor IX sequence variant W453R, signal peptide removed form (human)

description: A coagulation factor IX (human) that has an Arg residue at the position equivalent to Trp-453 of the amino acid sequence represented by UniProtKB:P00740-1 and that has had the signal peptide removed. Example: UniProtKB:P00740-1, 29-461, Trp-453, CHEBI:29952.


name: sodium/glucose cotransporter 1 O-glycosylated 6 (human)

description: A sodium/glucose cotransporter 1 (human) that has been O-glycosylated at the residue equivalent to Thr-14 of the amino acid sequence represented by UniProtKB:P13866-1, in which the glycan composition is represented by GlyTouCan:G43417UB. Example: UniProtKB:P13866-1, Thr-14, MOD:00005~GNO:G43417UB.


name: apoptosis regulator Bcl-2 isoform 1 phosphorylated 4 (human)

description: An apoptosis regulator Bcl-2 isoform 1 phosphorylated 4 in human. UniProtKB:P10415-1, Thr-69, MOD:00047|Ser-87, MOD:00046.