{ "uniprot_canonical_ac": "Q13224-1", "uniprot_ac": "Q13224", "uniprot_id": "NMDE2_HUMAN", "mass": { "chemical_mass": 166367.0, "monoisotopic_mass": 166367.0 }, "refseq": { "ac": "NP_000825", "name": "glutamate receptor ionotropic, NMDA 2B isoform a precursor", "summary": "This gene encodes a member of the N-methyl-D-aspartate (NMDA) receptor family within the ionotropic glutamate receptor superfamily. The encoded protein is a subunit of the NMDA receptor ion channel which acts as an agonist binding site for glutamate. The NMDA receptors mediate a slow calcium-permeable component of excitatory synaptic transmission in the central nervous system. The NMDA receptors are heterotetramers of seven genetically encoded, differentially expressed subunits including NR1 (GRIN1), NR2 (GRIN2A, GRIN2B, GRIN2C, or GRIN2D) and NR3 (GRIN3A or GRIN3B). The early expression of this gene in development suggests a role in brain development, circuit formation, synaptic plasticity, and cellular migration and differentiation. Naturally occurring mutations within this gene are associated with neurodevelopmental disorders including autism spectrum disorder, attention deficit hyperactivity disorder, epilepsy, and schizophrenia. [provided by RefSeq, Aug 2017].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000825" }, "gene_names": [ { "name": "GRIN2B", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/Q13224", "id": "Q13224" }, { "name": "DEE27; EIEE27; GluN2B; hNR3; MRD6; NMDAR2B; NR2B; NR3", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000825", "id": "NP_000825" }, { "name": "GRIN2B", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000825", "id": "NP_000825" }, { "name": "NMDAR2B", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/Q13224", "id": "Q13224" } ], "protein_names": [ { "name": "Glutamate receptor ionotropic, NMDA 2B", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "Q13224" }, { "name": "GluN2B", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q13224" }, { "name": "Glutamate [NMDA] receptor subunit epsilon-2", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q13224" }, { "name": "N-methyl D-aspartate receptor subtype 2B", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q13224" }, { "name": "N-methyl-D-aspartate receptor subunit 3", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q13224" }, { "name": "NMDAR2B", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q13224" }, { "name": "NR2B", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q13224" }, { "name": "NR3", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q13224" }, { "name": "glutamate [NMDA] receptor subunit epsilon-2; glutamate receptor subunit epsilon-2; N-methyl-D-aspartate receptor subunit 3; N-methyl D-aspartate receptor subtype 2B; GluN2B(alt_5'UTR); glutamate receptor ionotropic, NMDA 2B; glutamate receptor, ionotropic, N-methyl D-aspartate 2B", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000825", "id": "NP_000825" }, { "name": "glutamate receptor ionotropic, NMDA 2B isoform a precursor", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000825", "id": "NP_000825" }, { "name": "hNR3", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q13224" } ], "function": [ { "annotation": "Component of NMDA receptor complexes that function as heterotetrameric, ligand-gated ion channels with high calcium permeability and voltage-dependent sensitivity to magnesium. Channel activation requires binding of the neurotransmitter glutamate to the epsilon subunit, glycine binding to the zeta subunit, plus membrane depolarization to eliminate channel inhibition by Mg(2+) (PubMed:8768735, PubMed:26919761, PubMed:26875626, PubMed:28126851). Sensitivity to glutamate and channel kinetics depend on the subunit composition (PubMed:8768735, PubMed:26875626). In concert with DAPK1 at extrasynaptic sites, acts as a central mediator for stroke damage. Its phosphorylation at Ser-1303 by DAPK1 enhances synaptic NMDA receptor channel activity inducing injurious Ca2+ influx through them, resulting in an irreversible neuronal death. Contributes to neural pattern formation in the developing brain. Plays a role in long-term depression (LTD) of hippocampus membrane currents and in synaptic plasticity (By similarity).", "evidence": [ { "database": "UniProtKB", "id": "Q13224", "url": "https://www.uniprot.org/uniprot/Q13224#function" }, { "database": "PubMed", "id": "8768735", "url": "https://glygen.org/publication/PubMed/8768735" }, { "database": "PubMed", "id": "26919761", "url": "https://glygen.org/publication/PubMed/26919761" }, { "database": "PubMed", "id": "26875626", "url": "https://glygen.org/publication/PubMed/26875626" }, { "database": "UniProtKB", "id": "Q01097", "url": "https://www.uniprot.org/uniprot/Q01097#function" }, { "database": "PubMed", "id": "28126851", "url": "https://glygen.org/publication/PubMed/28126851" } ] }, { "annotation": "Correlations between GRIN2B and GRIN3A gene polymorphisms and postpartum depressive symptoms in Chinese parturients undergoing cesarean section: A prospective cohort study.", "evidence": [ { "database": "RefSeq", "id": "NP_000825", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000825" }, { "database": "PubMed", "id": "36898314", "url": "https://glygen.org/publication/PubMed/36898314" } ] }, { "annotation": "Functional effects of disease-associated variants reveal that the S1-M1 linker of the NMDA receptor critically controls channel opening. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_000825", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000825" }, { "database": "PubMed", "id": "37000222", "url": "https://glygen.org/publication/PubMed/37000222" } ] }, { "annotation": "In this review, mutations in GRIN2B were described as distributed throughout the entire gene in patients with neuropsychiatric and developmental disorders. Review article Erratum:[J Pharmacol Sci. 2017 Apr;133(4):280. PMID: 28434657]", "evidence": [ { "database": "RefSeq", "id": "NP_000825", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000825" }, { "database": "PubMed", "id": "27818011", "url": "https://glygen.org/publication/PubMed/27818011" } ] }, { "annotation": "This gene encodes a member of the N-methyl-D-aspartate (NMDA) receptor family within the ionotropic glutamate receptor superfamily. The encoded protein is a subunit of the NMDA receptor ion channel which acts as an agonist binding site for glutamate. The NMDA receptors mediate a slow calcium-permeable component of excitatory synaptic transmission in the central nervous system. The NMDA receptors are heterotetramers of seven genetically encoded, differentially expressed subunits including NR1 (GRIN1), NR2 (GRIN2A, GRIN2B, GRIN2C, or GRIN2D) and NR3 (GRIN3A or GRIN3B). The early expression of this gene in development suggests a role in brain development, circuit formation, synaptic plasticity, and cellular migration and differentiation. Naturally occurring mutations within this gene are associated with neurodevelopmental disorders including autism spectrum disorder, attention deficit hyperactivity disorder, epilepsy, and schizophrenia. [provided by RefSeq, Aug 2017].", "evidence": [ { "database": "RefSeq", "id": "NP_000825", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000825" } ] } ], "disease": [ { "disease_id": "DOID:0070036", "recommended_name": { "id": "DOID:0070036", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070036", "name": "autosomal dominant intellectual developmental disorder 6", "description": "An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the GRIN2B gene on chromosome 12p13.1." }, "synonyms": [ { "id": "DOID:0070036", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070036", "name": "autosomal dominant non-syndromic intellectual disability 6", "description": "" }, { "id": "DOID:0070036", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070036", "name": "MRD6", "description": "" }, { "id": "DOID:0070036", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070036", "name": "autosomal dominant mental retardation 6", "description": "" }, { "id": "MONDO:0013509", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013509", "name": "intellectual disability, autosomal dominant 6", "description": "Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the GRIN2B gene." }, { "id": "MONDO:0013509", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013509", "name": "GRIN2B autosomal dominant non-syndromic intellectual disability", "description": "" }, { "id": "MONDO:0013509", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013509", "name": "MRD6", "description": "" }, { "id": "MONDO:0013509", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013509", "name": "autosomal dominant intellectual disability 6", "description": "" }, { "id": "MONDO:0013509", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013509", "name": "autosomal dominant mental retardation 6", "description": "" }, { "id": "MONDO:0013509", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013509", "name": "autosomal dominant non-syndromic intellectual disability caused by mutation in GRIN2B", "description": "" }, { "id": "MONDO:0013509", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013509", "name": "intellectual developmental disorder, autosomal dominant 6, with or without seizures", "description": "" }, { "id": "MONDO:0013509", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013509", "name": "intellectual disability, autosomal dominant 6", "description": "" }, { "id": "MONDO:0013509", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013509", "name": "intellectual disability, autosomal dominant type 6", "description": "" }, { "id": "MONDO:0013509", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013509", "name": "mental retardation, autosomal dominant type 6", "description": "" }, { "id": "MONDO:0013509", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013509", "name": "autosomal dominant non-syndromic intellectual disability 6", "description": "" }, { "id": "MONDO:0013509", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013509", "name": "intellectual disability, autosomal dominant 6, with or without seizures", "description": "" }, { "id": "MONDO:0013509", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013509", "name": "mental retardation, autosomal dominant 6", "description": "" }, { "id": "MONDO:0013509", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013509", "name": "mental retardation, autosomal dominant 6, with or without seizures", "description": "" }, { "id": "MIM:613970", "resource": "MIM", "url": "https://www.omim.org/entry/613970", "name": "Intellectual developmental disorder, autosomal dominant 6, with or without seizures", "description": "Intellectual developmental disorder, autosomal dominant 6, with or without seizures" } ], "evidence": [ { "id": "613970", "database": "MIM", "url": "https://www.omim.org/entry/613970" } ] }, { "disease_id": "DOID:0080444", "recommended_name": { "id": "DOID:0080444", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080444", "name": "developmental and epileptic encephalopathy 27", "description": "A developmental and epileptic encephalopathy characterized by early onset seizures, delayed psychomotor development and intellectual disability with variable severity that has_material_basis_in heterozygous mutation in the GRIN2B gene on chromosome 12p12." }, "synonyms": [ { "id": "DOID:0080444", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080444", "name": "early infantile epileptic encephalopathy 27", "description": "" }, { "id": "DOID:0080444", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080444", "name": "DEE27", "description": "" }, { "id": "MONDO:0014505", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014505", "name": "developmental and epileptic encephalopathy, 27", "description": "Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the GRIN2B gene." }, { "id": "MONDO:0014505", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014505", "name": "DEE27", "description": "" }, { "id": "MONDO:0014505", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014505", "name": "EIEE27", "description": "" }, { "id": "MONDO:0014505", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014505", "name": "GRIN2B early infantile epileptic encephalopathy", "description": "" }, { "id": "MONDO:0014505", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014505", "name": "developmental and epileptic encephalopathy 27", "description": "" }, { "id": "MONDO:0014505", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014505", "name": "early infantile epileptic encephalopathy caused by mutation in GRIN2B", "description": "" }, { "id": "MONDO:0014505", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014505", "name": "epileptic encephalopathy, early infantile, 27", "description": "" }, { "id": "MONDO:0014505", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014505", "name": "epileptic encephalopathy, early infantile, type 27", "description": "" }, { "id": "MIM:616139", "resource": "MIM", "url": "https://www.omim.org/entry/616139", "name": "Developmental and epileptic encephalopathy 27", "description": "Developmental and epileptic encephalopathy 27" } ], "evidence": [ { "id": "616139", "database": "MIM", "url": "https://www.omim.org/entry/616139" } ] } ], "snv": [ { "evidence": [ { "id": "Q13224", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/Q13224" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 1059, "end_pos": 1059, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "D", "sequence_mut": "N", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-gain (DVS->NVS).", "chr_id": "12", "chr_pos": "13564063", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "D1059", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs756076031", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs756076031" }, { "id": "rs756076031", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs756076031" }, { "id": "rs756076031", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs756076031#frequency_tab" }, { "id": "rs756076031", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs756076031" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 1078, "end_pos": 1078, "sequence_org": "A", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NAA->NAS).", "chr_id": "12", "chr_pos": "13564006", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A1078", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs756076031", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs756076031" }, { "id": "rs756076031", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs756076031" }, { "id": "rs756076031", "database": "NCI-TCGA", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs756076031" }, { "id": "rs756076031", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs756076031#frequency_tab" }, { "id": "rs756076031", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs756076031" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 1078, "end_pos": 1078, "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NAA->NAT).", "chr_id": "12", "chr_pos": "13564006", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A1078", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "Q13224", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/Q13224" } ], "glycoeffect": [], "start_pos": 113, "end_pos": 113, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "D", "sequence_mut": "N", "comment": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3).", "chr_id": "12", "chr_pos": "13865872", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "D113", "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of 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"https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, intestinal", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "large intestine cancer", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs1245220591", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1245220591" }, { "id": "rs1245220591", "database": "NCI-TCGA", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1245220591" }, { "id": "rs1245220591", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1245220591#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 1144, "end_pos": 1144, "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NSP->NSS).", "chr_id": "12", "chr_pos": "13563808", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P1144", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1591605873", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1591605873" }, { "id": "rs1591605873", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1591605873" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 1225, "end_pos": 1225, "sequence_org": "Y", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (YST->NST).", "chr_id": "12", "chr_pos": "13563565", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Y1225", "disease": [ { "disease_id": "DOID:0080444", "recommended_name": { "id": "DOID:0080444", "resource": "Disease Ontology", 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"https://monarchinitiative.org/disease/MONDO:0014505", "name": "epileptic encephalopathy, early infantile, 27", "description": "" }, { "id": "MONDO:0014505", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014505", "name": "epileptic encephalopathy, early infantile, type 27", "description": "" }, { "id": "MIM:616139", "resource": "MIM", "url": "https://www.omim.org/entry/616139", "name": "Developmental and epileptic encephalopathy 27", "description": "Developmental and epileptic encephalopathy 27" } ] }, { "disease_id": "DOID:0070036", "recommended_name": { "id": "DOID:0070036", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070036", "name": "autosomal dominant intellectual developmental disorder 6", "description": "An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the GRIN2B gene on chromosome 12p13.1." }, "synonyms": [ { "id": "DOID:0070036", "resource": 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"MONDO:0013509", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013509", "name": "intellectual disability, autosomal dominant 6", "description": "" }, { "id": "MONDO:0013509", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013509", "name": "intellectual disability, autosomal dominant type 6", "description": "" }, { "id": "MONDO:0013509", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013509", "name": "mental retardation, autosomal dominant type 6", "description": "" }, { "id": "MONDO:0013509", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013509", "name": "autosomal dominant non-syndromic intellectual disability 6", "description": "" }, { "id": "MONDO:0013509", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013509", "name": "intellectual disability, autosomal dominant 6, with or without seizures", "description": "" }, { "id": "MONDO:0013509", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013509", "name": "mental retardation, autosomal dominant 6", "description": "" }, { "id": "MONDO:0013509", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013509", "name": "mental retardation, autosomal dominant 6, with or without seizures", "description": "" }, { "id": "MIM:613970", "resource": "MIM", "url": "https://www.omim.org/entry/613970", "name": "Intellectual developmental disorder, autosomal dominant 6, with or without seizures", "description": "Intellectual developmental disorder, autosomal dominant 6, with or without seizures" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs886049099", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs886049099" }, { "id": "rs886049099", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs886049099" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 1235, "end_pos": 1235, "sequence_org": "G", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NSG->NSS).", "chr_id": "12", "chr_pos": "13563535", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G1235", "disease": [ { "disease_id": "DOID:0080444", "recommended_name": { "id": "DOID:0080444", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080444", "name": "developmental and epileptic encephalopathy 27", "description": "A developmental and epileptic encephalopathy characterized by early onset seizures, delayed psychomotor development and intellectual disability with variable severity that has_material_basis_in heterozygous mutation in the GRIN2B gene on chromosome 12p12." }, "synonyms": [ { "id": "DOID:0080444", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080444", "name": "early infantile epileptic encephalopathy 27", "description": "" }, { "id": "DOID:0080444", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080444", "name": "DEE27", "description": "" }, { "id": "MONDO:0014505", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014505", "name": "developmental and epileptic encephalopathy, 27", "description": "Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the GRIN2B gene." }, { "id": "MONDO:0014505", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014505", "name": "DEE27", "description": "" }, { "id": "MONDO:0014505", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014505", "name": "EIEE27", "description": "" }, { "id": "MONDO:0014505", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014505", "name": "GRIN2B early infantile epileptic encephalopathy", "description": "" }, { "id": "MONDO:0014505", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014505", "name": "developmental and epileptic encephalopathy 27", "description": "" }, { "id": "MONDO:0014505", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014505", "name": "early infantile epileptic encephalopathy caused by mutation in GRIN2B", "description": "" }, { "id": "MONDO:0014505", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014505", "name": "epileptic encephalopathy, early infantile, 27", "description": "" }, { "id": "MONDO:0014505", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014505", "name": "epileptic encephalopathy, early infantile, type 27", "description": "" }, { "id": "MIM:616139", "resource": "MIM", "url": "https://www.omim.org/entry/616139", "name": "Developmental and epileptic encephalopathy 27", "description": "Developmental and epileptic encephalopathy 27" } ] }, { "disease_id": "DOID:0070036", "recommended_name": { "id": "DOID:0070036", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070036", "name": "autosomal dominant intellectual developmental disorder 6", "description": "An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the GRIN2B gene on chromosome 12p13.1." }, "synonyms": [ { "id": "DOID:0070036", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070036", "name": "autosomal dominant non-syndromic intellectual disability 6", "description": "" }, { "id": "DOID:0070036", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070036", "name": "MRD6", "description": "" }, { "id": "DOID:0070036", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070036", "name": "autosomal dominant mental retardation 6", "description": "" }, { "id": "MONDO:0013509", "resource": "MONDO", "url": 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"score": "37.58", "present": "ABSENT", "evidence": [ { "database": "Bgee", "id": "ENSG00000273079", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000273079" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "39.44", "present": "ABSENT", "evidence": [ { "database": "Bgee", "id": "ENSG00000273079", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000273079" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "47.6", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000273079", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000273079" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "40.85", "present": "ABSENT", "evidence": [ { "database": "Bgee", "id": "ENSG00000273079", "url": 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"MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012620", 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"https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate carcinoma", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, somatic", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, 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"https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer aggressiveness", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "Prca1", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer susceptibility, X-linked", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "Q13224", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q13224" } ], "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": 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"MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { 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"https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", 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This region includes the nasal cavity, sinuses, lips, mouth, salivary glands, throat, or larynx." }, "synonyms": [ { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck tumours", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head/neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "tumor of head and neck", "description": "" } ] } ] }, { "significant": "No", "trend": "down", "name": "Lung cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1324", "evidence": [ { "database": "BioXpress", "id": "Q13224", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q13224" } ], "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "adenocarcinoma of lung, susceptibility to", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "Nonsmall cell lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "alveolar cell carcinoma", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung neoplasm", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Breast cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1612", "evidence": [ { "database": "BioXpress", "id": "Q13224", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q13224" } ], "disease": [ { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "A thoracic cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "Q13224", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q13224" } ], "disease": [ { "disease_id": "DOID:1781", "recommended_name": { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid cancer", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage." }, "synonyms": [ { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid gland cancer", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "Thyroid gland neoplasm", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "malignant neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "malignant tumour of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid neoplasm", "description": "" } ] } ] }, { "significant": "No", "trend": "down", "name": "Kidney cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:263", "evidence": [ { "database": "BioXpress", "id": "Q13224", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q13224" } ], "disease": [ { "disease_id": "DOID:263", "recommended_name": { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "kidney cancer", "description": "A urinary system cancer that is located_in the kidney." }, "synonyms": [ { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant neoplasm of kidney except pelvis", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant tumour of kidney", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "renal cancer", "description": "" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ { "database": "BioXpress", "id": "Q13224", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q13224" } ], "disease": [ { "disease_id": "DOID:3571", "recommended_name": { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "liver cancer", "description": "A hepatobiliary system cancer that is located_in the liver." }, "synonyms": [ { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Ca liver - primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Resectable malignant neoplasm of Liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "hepatic cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "hepatic neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant hepato-biliary neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant tumor of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "non-resectable primary hepatic malignant neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "primary liver cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "primary malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "resectable malignant neoplasm of the liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, not specified as primary or secondary", "description": "" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Uterine cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:363", "evidence": [ { "database": "BioXpress", "id": "Q13224", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q13224" } ], "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ] } ] }, { "significant": "No", "trend": "down", "name": "Esophageal cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:5041", "evidence": [ { "database": "BioXpress", "id": "Q13224", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q13224" } ], "disease": [ { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": 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"http://www.pantherdb.org/panther/family.do?clsAccession=PTHR18966", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR18966:SF382", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR18966:SF382", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "5EWJ", "url": "https://www.rcsb.org/structure/5EWJ", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "5EWL", "url": "https://www.rcsb.org/structure/5EWL", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "5EWM", "url": "https://www.rcsb.org/structure/5EWM", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "7EU8", "url": "https://www.rcsb.org/structure/7EU8", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "7KL0", "url": "https://www.rcsb.org/structure/7KL0", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "7KL1", "url": "https://www.rcsb.org/structure/7KL1", "database": "PDB", "categories": [ 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"http://pfam.xfam.org/family/PF01094", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF10565", "url": "http://pfam.xfam.org/family/PF10565", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF10613", "url": "http://pfam.xfam.org/family/PF10613", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "Q13224", "url": "https://pharos.nih.gov/targets/Q13224", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR_Q13224", "url": "http://purl.obolibrary.org/obo/PR_Q13224", "database": "PRO", "categories": [ "Protein" ] }, { "id": "R-HSA-3928662", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3928662", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-438066", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-438066", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-442982", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-442982", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-5673001", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5673001", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-6794361", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6794361", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-8849932", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8849932", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-9022699", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9022699", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-9032500", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9032500", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-9609736", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9609736", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-9617324", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9617324", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-9620244", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9620244", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "NP_000825", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000825", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "A0A0D9SFA0", "url": "https://www.uniprot.org/uniprot/A0A0D9SFA0", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A0D9SFA0-1", "url": "https://www.uniprot.org/uniprot/A0A0D9SFA0-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A0D9SFK0", "url": "https://www.uniprot.org/uniprot/A0A0D9SFK0", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A0D9SFK0-1", "url": "https://www.uniprot.org/uniprot/A0A0D9SFK0-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A1B0GU78", "url": "https://www.uniprot.org/uniprot/A0A1B0GU78", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A1B0GU78-1", "url": "https://www.uniprot.org/uniprot/A0A1B0GU78-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q13224", "url": "https://www.uniprot.org/uniprot/Q13224", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q13224-1", "url": "https://www.uniprot.org/uniprot/Q13224-1", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MKPRAECCSPKFWLVLAVLAVSGSRARSQKSPPSIGIAVILVGTSDEVAIKDAHEKDDFHHLSVVPRVELVAMNETDPKSIITRICDLMSDRKIQGVVFADDTDQEAIAQILDFISAQTLTPILGIHGGSSMIMADKDESSMFFQFGPSIEQQASVMLNIMEEYDWYIFSIVTTYFPGYQDFVNKIRSTIENSFVGWELEEVLLLDMSLDDGDSKIQNQLKKLQSPIILLYCTKEEATYIFEVANSVGLTGYGYTWIVPSLVAGDTDTVPAEFPTGLISVSYDEWDYGLPARVRDGIAIITTAASDMLSEHSFIPEPKSSCYNTHEKRIYQSNMLNRYLINVTFEGRNLSFSEDGYQMHPKLVIILLNKERKWERVGKWKDKSLQMKYYVWPRMCPETEEQEDDHLSIVTLEEAPFVIVESVDPLSGTCMRNTVPCQKRIVTENKTDEEPGYIKKCCKGFCIDILKKISKSVKFTYDLYLVTNGKHGKKINGTWNGMIGEVVMKRAYMAVGSLTINEERSEVVDFSVPFIETGISVMVSRSNGTVSPSAFLEPFSADVWVMMFVMLLIVSAVAVFVFEYFSPVGYNRCLADGREPGGPSFTIGKAIWLLWGLVFNNSVPVQNPKGTTSKIMVSVWAFFAVIFLASYTANLAAFMIQEEYVDQVSGLSDKKFQRPNDFSPPFRFGTVPNGSTERNIRNNYAEMHAYMGKFNQRGVDDALLSLKTGKLDAFIYDAAVLNYMAGRDEGCKLVTIGSGKVFASTGYGIAIQKDSGWKRQVDLAILQLFGDGEMEELEALWLTGICHNEKNEVMSSQLDIDNMAGVFYMLGAAMALSLITFICEHLFYWQFRHCFMGVCSGKPGMVFSISRGIYSCIHGVAIEERQSVMNSPTATMNNTHSNILRLLRTAKNMANLSGVNGSPQSALDFIRRESSVYDISEHRRSFTHSDCKSYNNPPCEENLFSDYISEVERTFGNLQLKDSNVYQDHYHHHHRPHSIGSASSIDGLYDCDNPPFTTQSRSISKKPLDIGLPSSKHSQLSDLYGKFSFKSDRYSGHDDLIRSDVSDISTHTVTYGNIEGNAAKRRKQQYKDSLKKRPASAKSRREFDEIELAYRRRPPRSPDHKRYFRDKEGLRDFYLDQFRTKENSPHWEHVDLTDIYKERSDDFKRDSVSGGGPCTNRSHIKHGTGDKHGVVSGVPAPWEKNLTNVEWEDRSGGNFCRSCPSKLHNYSTTVTGQNSGRQACIRCEACKKAGNLYDISEDNSLQELDQPAAPVAVTSNASTTKYPQSPTNSKAQKKNRNKLRRQHSYDTFVDLQKEEAALAPRSVSLKDKGRFMDGSPYAHMFEMSAGESTFANNKSSVPTAGHHHHNNPGGGYMLSKSLYPDRVTQNPFIPTFGDDQCLLHGSKSYFFRQPTVAGASKARPDFRALVTNKPVVSALHGAVPARFQKDICIGNQSNPCVPNNKNPRAFNGSSNGHVYEKLSSIESDV", "length": 1484, "header": "sp|Q13224-1|NMDE2_HUMAN Isoform 1 of Glutamate receptor ionotropic, NMDA 2B OS=Homo sapiens OX=9606 GN=GRIN2B PE=1 SV=3 CANONICAL=Q13224-1" }, "isoforms": [ { "isoform_ac": "A0A0D9SFA0-1", "url": "", "sequence": { "sequence": "MKPRAECCSPKFWLVLAVLAVSGSRARSQKSPPSI", "length": 35, "header": "tr|A0A0D9SFA0-1|A0A0D9SFA0_HUMAN Computationally mapped isoform of Glutamate ionotropic receptor NMDA type subunit 2B OS=Homo sapiens OX=9606 GN=GRIN2B PE=4 SV=1 CANONICAL=Q13224-1" }, "locus": { "chromosome": "12", "start_pos": 13866208, "end_pos": 13866104, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000627535.2", "url": "https://www.ensembl.org/id/ENST00000627535.2" }, { "database": "Ensembl Peptide", "id": "ENSP00000486411.1", "url": "https://www.ensembl.org/id/ENSP00000486411.1" } ] } }, { "isoform_ac": "A0A0D9SFK0-1", "url": "", "sequence": { "sequence": "MKPRAECCSPKFWLVLAVLAVSGSRARSQKSPPSIGIAVILVGTSDEVAIKDAHEKDDFHHLSVVPRVELVAMNETDPKSIITRICDLMSDRKIQGVVFADDTDQEAIAQILDFISAQTLTPILGIHGGSSMIMADKDESSMFFQFGPSIEQQASVMLNIMEEYDWYIFSIVTTYFPGYQDFVNKIRSTIENSFVGWELEEVLLLDMSLDDGDSKIQNQLKKLQSPIILLYCTKEEATYIFEVANSVGLTGYGYTWIVPSLVAGDTDTVPAEFPTGLISVSYDEWDYGLPARVRDGIAIITTAASDMLSEHSFIPEPKSSCYNTHEKRIYQSNMLNRYLINVTFEGRNLSFSEDGYQMHPKLVIILLNKERKWERVGKWKDKSLQMKYYVWPRMCPETEEQEDDHLSIVTLEEAPFVIVESVDPLSGTCMRNTVPCQKRIVTENKTDEEPGYIKKCCKGFCIDI", "length": 464, "header": "tr|A0A0D9SFK0-1|A0A0D9SFK0_HUMAN Computationally mapped isoform of Glutamate ionotropic receptor NMDA type subunit 2B OS=Homo sapiens OX=9606 GN=GRIN2B PE=1 SV=2 CANONICAL=Q13224-1" }, "locus": { "chromosome": "12", "start_pos": 13866208, "end_pos": 13615601, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000630791.2", "url": "https://www.ensembl.org/id/ENST00000630791.2" }, { "database": "Ensembl Peptide", "id": "ENSP00000486677.2", "url": "https://www.ensembl.org/id/ENSP00000486677.2" } ] } }, { "isoform_ac": "A0A1B0GU78-1", "url": "", "sequence": { "sequence": "ANLAAFMIQEEYVDQVSGLSDKKMRTLRLRRSIFPKVTKLVTEPGF", "length": 46, "header": "tr|A0A1B0GU78-1|A0A1B0GU78_HUMAN Computationally mapped isoform of Glutamate ionotropic receptor NMDA type subunit 2B OS=Homo sapiens OX=9606 GN=GRIN2B PE=4 SV=1 CANONICAL=Q13224-1" }, "locus": { "chromosome": "12", "start_pos": 13608671, "end_pos": 13437943, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000637214.1", "url": "https://www.ensembl.org/id/ENST00000637214.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000489997.1", "url": "https://www.ensembl.org/id/ENSP00000489997.1" } ] } }, { "isoform_ac": "Q13224-1", "url": "", "sequence": { "sequence": "MKPRAECCSPKFWLVLAVLAVSGSRARSQKSPPSIGIAVILVGTSDEVAIKDAHEKDDFHHLSVVPRVELVAMNETDPKSIITRICDLMSDRKIQGVVFADDTDQEAIAQILDFISAQTLTPILGIHGGSSMIMADKDESSMFFQFGPSIEQQASVMLNIMEEYDWYIFSIVTTYFPGYQDFVNKIRSTIENSFVGWELEEVLLLDMSLDDGDSKIQNQLKKLQSPIILLYCTKEEATYIFEVANSVGLTGYGYTWIVPSLVAGDTDTVPAEFPTGLISVSYDEWDYGLPARVRDGIAIITTAASDMLSEHSFIPEPKSSCYNTHEKRIYQSNMLNRYLINVTFEGRNLSFSEDGYQMHPKLVIILLNKERKWERVGKWKDKSLQMKYYVWPRMCPETEEQEDDHLSIVTLEEAPFVIVESVDPLSGTCMRNTVPCQKRIVTENKTDEEPGYIKKCCKGFCIDILKKISKSVKFTYDLYLVTNGKHGKKINGTWNGMIGEVVMKRAYMAVGSLTINEERSEVVDFSVPFIETGISVMVSRSNGTVSPSAFLEPFSADVWVMMFVMLLIVSAVAVFVFEYFSPVGYNRCLADGREPGGPSFTIGKAIWLLWGLVFNNSVPVQNPKGTTSKIMVSVWAFFAVIFLASYTANLAAFMIQEEYVDQVSGLSDKKFQRPNDFSPPFRFGTVPNGSTERNIRNNYAEMHAYMGKFNQRGVDDALLSLKTGKLDAFIYDAAVLNYMAGRDEGCKLVTIGSGKVFASTGYGIAIQKDSGWKRQVDLAILQLFGDGEMEELEALWLTGICHNEKNEVMSSQLDIDNMAGVFYMLGAAMALSLITFICEHLFYWQFRHCFMGVCSGKPGMVFSISRGIYSCIHGVAIEERQSVMNSPTATMNNTHSNILRLLRTAKNMANLSGVNGSPQSALDFIRRESSVYDISEHRRSFTHSDCKSYNNPPCEENLFSDYISEVERTFGNLQLKDSNVYQDHYHHHHRPHSIGSASSIDGLYDCDNPPFTTQSRSISKKPLDIGLPSSKHSQLSDLYGKFSFKSDRYSGHDDLIRSDVSDISTHTVTYGNIEGNAAKRRKQQYKDSLKKRPASAKSRREFDEIELAYRRRPPRSPDHKRYFRDKEGLRDFYLDQFRTKENSPHWEHVDLTDIYKERSDDFKRDSVSGGGPCTNRSHIKHGTGDKHGVVSGVPAPWEKNLTNVEWEDRSGGNFCRSCPSKLHNYSTTVTGQNSGRQACIRCEACKKAGNLYDISEDNSLQELDQPAAPVAVTSNASTTKYPQSPTNSKAQKKNRNKLRRQHSYDTFVDLQKEEAALAPRSVSLKDKGRFMDGSPYAHMFEMSAGESTFANNKSSVPTAGHHHHNNPGGGYMLSKSLYPDRVTQNPFIPTFGDDQCLLHGSKSYFFRQPTVAGASKARPDFRALVTNKPVVSALHGAVPARFQKDICIGNQSNPCVPNNKNPRAFNGSSNGHVYEKLSSIESDV", "length": 1484, "header": "sp|Q13224-1|NMDE2_HUMAN Isoform 1 of Glutamate receptor ionotropic, NMDA 2B OS=Homo sapiens OX=9606 GN=GRIN2B PE=1 SV=3 CANONICAL=Q13224-1" }, "locus": { "chromosome": "12", "start_pos": 13866208, "end_pos": 13562786, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000609686.4", "url": "https://www.ensembl.org/id/ENST00000609686.4" }, { "database": "Ensembl Peptide", "id": "ENSP00000477455.1", "url": "https://www.ensembl.org/id/ENSP00000477455.1" } ] } } ], "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 341, "start_aa": "Asn", "end_pos": 341, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn341", "evidence": [ { "id": "Q13224", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q13224#ptm_processing" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 348, "start_aa": "Asn", "end_pos": 348, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn348", "evidence": [ { "id": "Q13224", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q13224#ptm_processing" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 444, "start_aa": "Asn", "end_pos": 444, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn444", "evidence": [ { "id": "Q13224", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q13224#ptm_processing" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 491, "start_aa": "Asn", "end_pos": 491, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn491", "evidence": [ { "id": "Q13224", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q13224#ptm_processing" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 542, "start_aa": "Asn", "end_pos": 542, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn542", "evidence": [ { "id": "Q13224", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q13224#ptm_processing" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 688, "start_aa": "Asn", "end_pos": 688, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn688", "evidence": [ { "id": "Q13224", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q13224#ptm_processing" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 74, "start_aa": "Asn", "end_pos": 74, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn74", "evidence": [ { "id": "Q13224", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q13224#ptm_processing" } ] } ], "phosphorylation": [ { "start_pos": 1039, "end_pos": 1039, "kinase_uniprot_canonical_ac": "P06241-1", "kinase_gene_name": "FYN", "residue": "Tyr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q13224", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q13224" }, { "database": "PubMed", "id": "11024032", "url": "https://glygen.org/publication/PubMed/11024032" } ], "site_lbl": "Tyr1039" }, { "start_pos": 1039, "end_pos": 1039, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": 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Ther.", "date": "1996", "authors": "Hess SD, Daggett LP, Crona J, Deal C, Lu CC, Urrutia A, Chavez-Noriega L, Ellis SB, Johnson EC, Velicelebi G", "evidence": [ { "database": "UniProtKB", "id": "Q13224", "url": "https://www.uniprot.org/uniprot/Q13224" } ], "reference": [ { "type": "PubMed", "id": "8768735", "url": "https://glygen.org/publication/PubMed/8768735" } ] }, { "title": "Identification of a novel RalGDS-related protein as a candidate effector for Ras and Rap1.", "journal": "The Journal of biological chemistry", "date": "1996", "authors": "Peterson SN, Trabalzini L, Brtva TR, Fischer T, Altschuler DL, Martelli P, Lapetina EG, Der CJ, White GC 2nd", "evidence": [ { "database": "Reactome", "id": "R-HSA-5673001", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5673001" } ], "reference": [ { "type": "PubMed", "id": "8939933", "url": "https://glygen.org/publication/PubMed/8939933" } ] }, { "title": "Identification of a phosphorylation site for calcium/calmodulindependent protein kinase II in the NR2B subunit of the N-methyl-D-aspartate receptor.", "journal": "The Journal of biological chemistry", "date": "1996", "authors": "Omkumar RV, Kiely MJ, Rosenstein AJ, Min KT, Kennedy MB", "evidence": [ { "database": "iPTMnet", "id": "Q13224", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q13224" } ], "reference": [ { "type": "PubMed", "id": "8940188", "url": "https://glygen.org/publication/PubMed/8940188" } ] }, { "title": "Homer: a protein that selectively binds metabotropic glutamate receptors.", "journal": "Nature", "date": "1997", "authors": "Brakeman PR, Lanahan AA, O'Brien R, Roche K, Barnes CA, Huganir RL, Worley PF", "evidence": [ { "database": "Reactome", "id": "R-HSA-6794361", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6794361" } ], "reference": [ { "type": "PubMed", "id": "9069287", "url": "https://glygen.org/publication/PubMed/9069287" } ] }, { "title": "mRNA distribution in adult human brain of GRIN2B, a N-methyl-D-aspartate (NMDA) receptor subunit.", "journal": "Neurosci. Lett.", "date": "1997", "authors": "Ratti A., Pizzuti A., Ajmar F., Bellone E., Di Maria E., Mandich P., Schenone A., Mancardi G.L., Defferrari R., Schito A.M.", "evidence": [ { "database": "UniProtKB", "id": "Q13224", "url": "https://www.uniprot.org/uniprot/Q13224" } ], "reference": [ { "type": "PubMed", "id": "9547169", "url": "https://glygen.org/publication/PubMed/9547169" } ] }, { "title": "Phosphorylation of the MAP kinase ERK2 promotes its homodimerization and nuclear translocation.", "journal": "Cell", "date": "1998", "authors": "Khokhlatchev AV, Canagarajah B, Wilsbacher J, Robinson M, Atkinson M, Goldsmith E, Cobb MH", "evidence": [ { "database": "Reactome", "id": "R-HSA-5673001", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5673001" } ], "reference": [ { "type": "PubMed", "id": "9604935", "url": "https://glygen.org/publication/PubMed/9604935" } ] }, { "title": "AMPA receptor-mediated excitotoxicity in human NT2-N neurons results from loss of intracellular Ca2+ 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