{ "uniprot_canonical_ac": "O00451-1", "uniprot_ac": "O00451", "uniprot_id": "GFRA2_HUMAN", "mass": { "chemical_mass": 51544.0, "monoisotopic_mass": 51544.0 }, "refseq": { "ac": "NP_001158510", "name": "GDNF family receptor alpha-2 isoform b", "summary": "Glial cell line-derived neurotrophic factor (GDNF) and neurturin (NTN) are two structurally related, potent neurotrophic factors that play key roles in the control of neuron survival and differentiation. The protein encoded by this gene is a member of the GDNF receptor family. It is a glycosylphosphatidylinositol(GPI)-linked cell surface receptor for both GDNF and NTN, and mediates activation of the RET tyrosine kinase receptor. This encoded protein acts preferentially as a receptor for NTN compared to its other family member, GDNF family receptor alpha 1. This gene is a candidate gene for RET-associated diseases. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001158510" }, "gene_names": [ { "name": "GFRA2", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O00451", "id": "O00451" }, { "name": "GDNFRB; NRTNR-ALPHA; NTNRA; RETL2; TRNR2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001158510", "id": "NP_001158510" }, { "name": "GDNFRB", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O00451", "id": "O00451" }, { "name": "GFRA2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001158510", "id": "NP_001158510" }, { "name": "RETL2", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O00451", "id": "O00451" }, { "name": "TRNR2", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O00451", "id": "O00451" } ], "protein_names": [ { "name": "GDNF family receptor alpha-2", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O00451" }, { "name": "GDNF family receptor alpha-2 isoform b", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001158510", "id": "NP_001158510" }, { "name": "GDNF receptor alpha-2", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O00451" }, { "name": "GDNF receptor beta", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O00451" }, { "name": "GDNFR-alpha-2", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O00451" }, { "name": "GDNFR-beta", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O00451" }, { "name": "GFR-alpha-2", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O00451" }, { "name": "NRTNR-alpha", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O00451" }, { "name": "NTNR-alpha", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O00451" }, { "name": "Neurturin receptor alpha", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O00451" }, { "name": "RET ligand 2; PI-linked cell-surface accessory protein; GFR-alpha 2; TRN receptor, GPI-anchored; glial cell line derived neurotrophic factor receptor, beta; neurturin receptor alpha; GDNFR-beta; NTNR-alpha; GDNFR-alpha-2; GDNF receptor beta; TGF-beta-related neurotrophic factor receptor 2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001158510", "id": "NP_001158510" }, { "name": "RET ligand 2", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O00451" }, { "name": "TGF-beta-related neurotrophic factor receptor 2", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O00451" } ], "function": [ { "annotation": "A novel genome-wide significant locus at GFRA2 on chromosome 8p21.3 was identified to be associated with disease risk, and expression analyses showed that the risk-associated allele at rs36196656 decreased GFRA2 mRNA concentrations in GFRA2 tissue.", "evidence": [ { "database": "RefSeq", "id": "NP_001158510", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001158510" }, { "database": "PubMed", "id": "29724592", "url": "https://glygen.org/publication/PubMed/29724592" } ] }, { "annotation": "Biophysical results show that the relative concentration of GFRa2 on cell surfaces can affect the functional affinity of NRTN through avidity effects.", "evidence": [ { "database": "RefSeq", "id": "NP_001158510", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001158510" }, { "database": "PubMed", "id": "29414779", "url": "https://glygen.org/publication/PubMed/29414779" } ] }, { "annotation": "Both GFR alpha2a and GFR alpha2c, but not GFR alpha2b, promote neurite outgrowth in transfected Neuro2A cells.", "evidence": [ { "database": "RefSeq", "id": "NP_001158510", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001158510" }, { "database": "PubMed", "id": "17522305", "url": "https://glygen.org/publication/PubMed/17522305" } ] }, { "annotation": "GFRA2 was upregulated in human neuroblastoma cells and tissues, and promoted neuroblastoma cell proliferation through interacting with the tumor suppressor PTEN.", "evidence": [ { "database": "RefSeq", "id": "NP_001158510", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001158510" }, { "database": "PubMed", "id": "30722993", "url": "https://glygen.org/publication/PubMed/30722993" } ] }, { "annotation": "Glial cell line-derived neurotrophic factor (GDNF) and neurturin (NTN) are two structurally related, potent neurotrophic factors that play key roles in the control of neuron survival and differentiation. The protein encoded by this gene is a member of the GDNF receptor family. It is a glycosylphosphatidylinositol(GPI)-linked cell surface receptor for both GDNF and NTN, and mediates activation of the RET tyrosine kinase receptor. This encoded protein acts preferentially as a receptor for NTN compared to its other family member, GDNF family receptor alpha 1. This gene is a candidate gene for RET-associated diseases. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009].", "evidence": [ { "database": "RefSeq", "id": "NP_001158510", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001158510" } ] }, { "annotation": "High GFRalpha2 expression level leads to PTEN inactivation via Mir-17-5p up-regulation, promoting pancreatic tumor cell growth and chemoresistance. Erratum:[Cancer Lett. 2019 Jun 28;452:270. PMID: 30929811]", "evidence": [ { "database": "RefSeq", "id": "NP_001158510", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001158510" }, { "database": "PubMed", "id": "27400681", "url": "https://glygen.org/publication/PubMed/27400681" } ] }, { "annotation": "Participates in NRTN-induced 'Ser-727' phosphorylation of STAT3.", "evidence": [ { "database": "UniProtKB", "id": "O00451", "url": "https://www.uniprot.org/uniprot/O00451#function" }, { "database": "UniProtKB", "id": "O08842", "url": "https://www.uniprot.org/uniprot/O08842#function" } ] }, { "annotation": "Receptor for neurturin. Mediates the NRTN-induced autophosphorylation and activation of the RET receptor. Also able to mediate GDNF signaling through the RET tyrosine kinase receptor.", "evidence": [ { "database": "UniProtKB", "id": "O00451", "url": "https://www.uniprot.org/uniprot/O00451#function" }, { "database": "UniProtKB", "id": "E5RGR6", "url": "https://www.uniprot.org/uniprot/E5RGR6#function" }, { "database": "UniProtKB", "id": "ARBA00025392", "url": "https://www.uniprot.org/uniprot/ARBA00025392#function" } ] }, { "annotation": "We have reconstituted the complete extracellular region of the RET signaling complex together with Neurturin (NRTN) and GFRalpha2 and determined its structure at 5.7-A resolution by cryo-EM. The proteins form an assembly through RET-GFRalpha2 and RET-NRTN interfaces. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001158510", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001158510" }, { "database": "PubMed", "id": "31392261", "url": "https://glygen.org/publication/PubMed/31392261" } ] } ], "disease": [], "snv": [ { "evidence": [ { "id": "rs200356588", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs200356588" }, { "id": "rs200356588", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs200356588" }, { "id": "rs200356588", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs200356588" }, { "id": "rs200356588", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs200356588#frequency_tab" }, { "id": "rs200356588", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs200356588" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 341, "end_pos": 341, "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (DFT->NFT).", "chr_id": "8", "chr_pos": "21705009", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "0.0002", "site_lbl": "D341", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs765796593", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs765796593" }, { "id": "rs765796593", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs765796593" }, { "id": "rs765796593", "database": "NCI-TCGA", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs765796593" }, { "id": "rs765796593", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs765796593#frequency_tab" }, { "id": "rs765796593", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs765796593" }, { "id": "22610119", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22610119" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 359, "end_pos": 359, "sequence_org": "T", "sequence_mut": "M", "comment": "Somatic mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NGT->NGM).", "chr_id": "8", "chr_pos": "21702947", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T359", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "rs765796593", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs765796593" }, { "id": "rs765796593", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs765796593" }, { "id": "rs765796593", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs765796593#frequency_tab" }, { "id": "rs765796593", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs765796593" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 359, "end_pos": 359, "sequence_org": "T", "sequence_mut": "R", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NGT->NGR).", "chr_id": "8", "chr_pos": "21702947", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T359", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1346410768", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1346410768" }, { "id": "rs1346410768", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1346410768#frequency_tab" }, { "id": "rs1346410768", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1346410768" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 387, "end_pos": 387, "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (DLS->NLS).", "chr_id": "8", "chr_pos": "21702864", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D387", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1318710315", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1318710315" }, { "id": "rs1318710315", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1318710315" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 391, "end_pos": 391, "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (STS->NTS).", "chr_id": "8", "chr_pos": "21702851", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S391", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "O00451", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O00451" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 396, "end_pos": 396, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "T", "sequence_mut": "I", "comment": "Somatic mutation passed 1 out of 6 filters: o-glyco-site-loss (T->I).", "chr_id": "8", "chr_pos": "21702836", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "T396", "disease": [ { "disease_id": "DOID:1319", "recommended_name": { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "brain cancer", "description": "A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain." }, "synonyms": [ { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "BT - Brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "adult brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "adult malignant brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm, adult", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "malignant brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of Brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of adult brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "primary malignant neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "tumor of the Brain", "description": "" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs368697577", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs368697577" }, { "id": "rs368697577", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs368697577" }, { "id": "rs368697577", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs368697577" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 413, "end_pos": 413, "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NNS->SNS).", "chr_id": "8", "chr_pos": "21694498", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N413", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs776682965", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs776682965" }, { "id": "rs776682965", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs776682965" }, { "id": "rs776682965", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs776682965#frequency_tab" }, { "id": "rs776682965", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs776682965" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 415, "end_pos": 415, "sequence_org": "S", "sequence_mut": "F", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NNS->NNF).", "chr_id": "8", "chr_pos": "21694492", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S415", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "O00451", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O00451" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 415, "end_pos": 415, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "S", "sequence_mut": "Y", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-loss (NNS->NNY).", "chr_id": "8", "chr_pos": "21694492", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "S415", "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" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs1449826649", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1449826649" }, { "id": "rs1449826649", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1449826649#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 52, "end_pos": 52, "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NCS->SCS).", "chr_id": "8", "chr_pos": "21782785", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N52", "keywords": [ "ebi", "germline" ] } ], "mutagenesis": [], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "57.02", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000168546", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000168546" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "57.88", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000168546", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000168546" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "61.95", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000168546", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000168546" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "49.96", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000168546", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000168546" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "76.37", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000168546", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000168546" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "71.48", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000168546", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000168546" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "47.76", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000168546", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000168546" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "62.39", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000168546", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000168546" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "85.06", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000168546", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000168546" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "47.6", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000168546", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000168546" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "63.93", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000168546", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000168546" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "63.66", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000168546", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000168546" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "57.96", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000168546", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000168546" } ] } ], "expression_disease": [ { "significant": "Yes", "trend": "down", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "O00451", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O00451" } ], "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, on chromosome 7", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "predisposing for prostate cancer", "description": "" }, { "id": "MONDO:0011270", "resource": "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", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate carcinoma", "description": "Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma." }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "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, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, hereditary", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "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": "down", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "O00451", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O00451" } ], "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 stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "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", "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" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Urinary bladder cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11054", "evidence": [ { "database": "BioXpress", "id": "O00451", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O00451" } ], "disease": [ { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Head and neck cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11934", "evidence": [ { "database": "BioXpress", "id": "O00451", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O00451" } ], "disease": [ { "disease_id": "DOID:11934", "recommended_name": { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck cancer", "description": "An organ system cancer that arises in the head or neck region. 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": "Yes", "trend": "down", "name": "Lung cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1324", "evidence": [ { "database": "BioXpress", "id": "O00451", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O00451" } ], "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": "O00451", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O00451" } ], "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": "O00451", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O00451" } ], "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": "up", "name": "Kidney cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:263", "evidence": [ { "database": "BioXpress", "id": "O00451", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O00451" } ], "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": "O00451", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O00451" } ], "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": "down", "name": "Uterine cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:363", "evidence": [ { "database": "BioXpress", "id": "O00451", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O00451" } ], "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": "Yes", "trend": "down", "name": "Esophageal cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:5041", "evidence": [ { "database": "BioXpress", "id": "O00451", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O00451" } ], "disease": [ { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Aerodigestive tract cancer, susceptibility to", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Escc, susceptibility to", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, susceptibility to", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "gastric cardia adenocarcinoma, susceptibility to", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Colorectal cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:9256", "evidence": [ { "database": "BioXpress", "id": "O00451", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O00451" } ], "disease": [ { "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" } ] } ] } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O00451", "url": "https://www.uniprot.org/uniprot/O00451" } ], "common_name": "Human" } ], "gene": [ { "name": "GFRA2", "url": "https://www.uniprot.org/uniprot/O00451", "locus": { "chromosome": "8", "start_pos": 21690398, "end_pos": 21812357, "strand": "+", "evidence": [ { "database": "Ensembl Gene", "id": "ENSG00000168546", "url": "https://www.ensembl.org/id/ENSG00000168546" } ] } } ], "crossref": [ { "id": "ENSG00000168546", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000168546", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "O00451", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O00451", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "GFRA2", "url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=GFRA2", "database": "GeneCards", "categories": [ "Gene Annotation", "Organism-specific" ] }, { "id": "2675", "url": "https://www.ncbi.nlm.nih.gov/gene/2675", "database": "GeneID", "categories": [ "Genome Annotation" ] }, { "id": "4244", "url": "https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=4244", "database": "HGNC", "categories": [ "Organism-specific" ] }, { "id": "IPR003438", "url": "https://www.ebi.ac.uk/interpro/entry/IPR003438", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR003504", "url": "https://www.ebi.ac.uk/interpro/entry/IPR003504", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR016017", "url": "https://www.ebi.ac.uk/interpro/entry/IPR016017", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR017372", "url": "https://www.ebi.ac.uk/interpro/entry/IPR017372", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR037193", "url": "https://www.ebi.ac.uk/interpro/entry/IPR037193", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "hsa:2675", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:2675", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "601956", "url": "http://www.omim.org/entry/601956", "database": "MIM", "categories": [ "Other" ] }, { "id": "NX_O00451", "url": "https://www.nextprot.org/entry/NX_O00451", "database": "neXtProt", "categories": [ "Protein", "Organism-specific" ] }, { "id": "DTGKPCN", "url": "https://omabrowser.org/oma/group/DTGKPCN/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "3899332at2759", "url": "http://www.orthodb.org/?query=3899332at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR10269", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR10269", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR10269:SF4", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR10269:SF4", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "5MR4", "url": "https://www.rcsb.org/structure/5MR4", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "5MR5", "url": "https://www.rcsb.org/structure/5MR5", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "6GL7", "url": "https://www.rcsb.org/structure/6GL7", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "6Q2O", "url": "https://www.rcsb.org/structure/6Q2O", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "6Q2R", "url": "https://www.rcsb.org/structure/6Q2R", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "PF02351", "url": "http://pfam.xfam.org/family/PF02351", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "O00451", "url": "https://pharos.nih.gov/targets/O00451", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR:000050639", "url": "https://proconsortium.org/app/entry/PR:000050639", "database": "PRO", "categories": [ "Glycoproteomics" ] }, { "id": "PR:000050640", "url": "https://proconsortium.org/app/entry/PR:000050640", "database": "PRO", "categories": [ "Glycoproteomics" ] }, { "id": "PR:000050641", "url": "https://proconsortium.org/app/entry/PR:000050641", "database": "PRO", "categories": [ "Glycoproteomics" ] }, { "id": "PR_O00451", "url": "http://purl.obolibrary.org/obo/PR_O00451", "database": "PRO", "categories": [ "Protein" ] }, { "id": "R-HSA-419037", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-419037", "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-8853659", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8853659", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "NP_001158510", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001158510", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "O00451", "url": "DISABLED", "database": "UniCarbKB", "categories": [ "Glycoproteomics" ] }, { "id": "E5RGR6", "url": "https://www.uniprot.org/uniprot/E5RGR6", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "E5RGR6-1", "url": "https://www.uniprot.org/uniprot/E5RGR6-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "E5RJ44", "url": "https://www.uniprot.org/uniprot/E5RJ44", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "E5RJ44-1", "url": "https://www.uniprot.org/uniprot/E5RJ44-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "J3KNF0", "url": "https://www.uniprot.org/uniprot/J3KNF0", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "J3KNF0-1", "url": "https://www.uniprot.org/uniprot/J3KNF0-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O00451", "url": "https://www.uniprot.org/uniprot/O00451", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O00451-1", "url": "https://www.uniprot.org/uniprot/O00451-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O00451-2", "url": "https://www.uniprot.org/uniprot/O00451-2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O00451-3", "url": "https://www.uniprot.org/uniprot/O00451-3", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MILANVFCLFFFLDETLRSLASPSSLQGPELHGWRPPVDCVRANELCAAESNCSSRYRTLRQCLAGRDRNTMLANKECQAALEVLQESPLYDCRCKRGMKKELQCLQIYWSIHLGLTEGEEFYEASPYEPVTSRLSDIFRLASIFSGTGADPVVSAKSNHCLDAAKACNLNDNCKKLRSSYISICNREISPTERCNRRKCHKALRQFFDRVPSEYTYRMLFCSCQDQACAERRRQTILPSCSYEDKEKPNCLDLRGVCRTDHLCRSRLADFHANCRASYQTVTSCPADNYQACLGSYAGMIGFDMTPNYVDSSPTGIVVSPWCSCRGSGNMEEECEKFLRDFTENPCLRNAIQAFGNGTDVNVSPKGPSFQATQAPRVEKTPSLPDDLSDSTSLGTSVITTCTSVQEQGLKANNSKELSMCFTELTTNIIPGSNKVIKPNSGPSRARPSAALTVLSVLMLKLAL", "length": 464, "header": "sp|O00451-1|GFRA2_HUMAN Isoform 1 of GDNF family receptor alpha-2 OS=Homo sapiens OX=9606 GN=GFRA2 PE=1 SV=2 CANONICAL=O00451-1" }, "isoforms": [ { "isoform_ac": "E5RGR6-1", "url": "", "sequence": { "sequence": "MILANVFCLFFFLDETLRSLASPSSLQGPELHGWRPPVDCVRANELCAAESNCSSRYRTLRQCLAGRDRNTMLANKECQAALEVLQESPLYDCRCKRGMKKELQCLQIYWSIHLGLTEGEEFYEASPYEPVTSRLSDIFRLASIFSGTGADPVVSAKSNHCLDAAKACNLNDNCKKLRSSYISICNREISPTERCNRRKCHKALRQFFDRVPSEYTYRMLFCSCQDQACAERRRQTILPSCSYEDKEKPNCLDLRGVCRTDHLC", "length": 264, "header": "tr|E5RGR6-1|E5RGR6_HUMAN Computationally mapped isoform of GDNF family receptor alpha-2 OS=Homo sapiens OX=9606 GN=GFRA2 PE=1 SV=6 CANONICAL=O00451-1" }, "locus": { "chromosome": "8", "start_pos": 21788159, "end_pos": 21750590, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000522071.2", "url": "https://www.ensembl.org/id/ENST00000522071.2" }, { "database": "Ensembl Peptide", "id": "ENSP00000428721.1", "url": "https://www.ensembl.org/id/ENSP00000428721.1" } ] } }, { "isoform_ac": "E5RJ44-1", "url": "", "sequence": { "sequence": "MLANKECQAALEVLQESPLYDCRCKRGMKKELQCLQIYWSIHLGLTEGEEFYEASPYEPVTSRLSDIFRLASIF", "length": 74, "header": "tr|E5RJ44-1|E5RJ44_HUMAN Computationally mapped isoform of GDNF family receptor alpha 2 OS=Homo sapiens OX=9606 GN=GFRA2 PE=1 SV=1 CANONICAL=O00451-1" }, "locus": { "chromosome": "8", "start_pos": 21782726, "end_pos": 21774976, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000519195.1", "url": "https://www.ensembl.org/id/ENST00000519195.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000430622.1", "url": "https://www.ensembl.org/id/ENSP00000430622.1" } ] } }, { "isoform_ac": "J3KNF0-1", "url": "", "sequence": { "sequence": "MILANVFCLFFFLGPGPLLRRNGVQREKTCSYIQGRMMPEFSLGYEEGCPTESPWCALAKWV", "length": 62, "header": "tr|J3KNF0-1|J3KNF0_HUMAN Computationally mapped isoform of GDNF family receptor alpha 2 OS=Homo sapiens OX=9606 GN=GFRA2 PE=4 SV=1 CANONICAL=O00451-1" }, "locus": { "chromosome": "8", "start_pos": 21788159, "end_pos": 21782997, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000306793.4", "url": "https://www.ensembl.org/id/ENST00000306793.4" }, { "database": "Ensembl Peptide", "id": "ENSP00000306654.4", "url": "https://www.ensembl.org/id/ENSP00000306654.4" } ] } }, { "isoform_ac": "O00451-1", "url": "", "sequence": { "sequence": "MILANVFCLFFFLDETLRSLASPSSLQGPELHGWRPPVDCVRANELCAAESNCSSRYRTLRQCLAGRDRNTMLANKECQAALEVLQESPLYDCRCKRGMKKELQCLQIYWSIHLGLTEGEEFYEASPYEPVTSRLSDIFRLASIFSGTGADPVVSAKSNHCLDAAKACNLNDNCKKLRSSYISICNREISPTERCNRRKCHKALRQFFDRVPSEYTYRMLFCSCQDQACAERRRQTILPSCSYEDKEKPNCLDLRGVCRTDHLCRSRLADFHANCRASYQTVTSCPADNYQACLGSYAGMIGFDMTPNYVDSSPTGIVVSPWCSCRGSGNMEEECEKFLRDFTENPCLRNAIQAFGNGTDVNVSPKGPSFQATQAPRVEKTPSLPDDLSDSTSLGTSVITTCTSVQEQGLKANNSKELSMCFTELTTNIIPGSNKVIKPNSGPSRARPSAALTVLSVLMLKLAL", "length": 464, "header": "sp|O00451-1|GFRA2_HUMAN Isoform 1 of GDNF family receptor alpha-2 OS=Homo sapiens OX=9606 GN=GFRA2 PE=1 SV=2 CANONICAL=O00451-1" }, "locus": { "chromosome": "8", "start_pos": 21788159, "end_pos": 21693281, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000517328.5", "url": "https://www.ensembl.org/id/ENST00000517328.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000429445.1", "url": "https://www.ensembl.org/id/ENSP00000429445.1" } ] } }, { "isoform_ac": "O00451-2", "url": "", "sequence": { "sequence": "MILANVFCLFFFLGTGADPVVSAKSNHCLDAAKACNLNDNCKKLRSSYISICNREISPTERCNRRKCHKALRQFFDRVPSEYTYRMLFCSCQDQACAERRRQTILPSCSYEDKEKPNCLDLRGVCRTDHLCRSRLADFHANCRASYQTVTSCPADNYQACLGSYAGMIGFDMTPNYVDSSPTGIVVSPWCSCRGSGNMEEECEKFLRDFTENPCLRNAIQAFGNGTDVNVSPKGPSFQATQAPRVEKTPSLPDDLSDSTSLGTSVITTCTSVQEQGLKANNSKELSMCFTELTTNIIPGSNKVIKPNSGPSRARPSAALTVLSVLMLKLAL", "length": 331, "header": "sp|O00451-2|GFRA2_HUMAN Isoform 2 of GDNF family receptor alpha-2 OS=Homo sapiens OX=9606 GN=GFRA2 PE=1 SV=2 CANONICAL=O00451-1" }, "locus": { "chromosome": "8", "start_pos": 21788159, "end_pos": 21693281, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000518077.5", "url": "https://www.ensembl.org/id/ENST00000518077.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000429206.1", "url": "https://www.ensembl.org/id/ENSP00000429206.1" } ] } }, { "isoform_ac": "O00451-3", "url": "", "sequence": { "sequence": "MILANVFCLFFFLGEEFYEASPYEPVTSRLSDIFRLASIFSGTGADPVVSAKSNHCLDAAKACNLNDNCKKLRSSYISICNREISPTERCNRRKCHKALRQFFDRVPSEYTYRMLFCSCQDQACAERRRQTILPSCSYEDKEKPNCLDLRGVCRTDHLCRSRLADFHANCRASYQTVTSCPADNYQACLGSYAGMIGFDMTPNYVDSSPTGIVVSPWCSCRGSGNMEEECEKFLRDFTENPCLRNAIQAFGNGTDVNVSPKGPSFQATQAPRVEKTPSLPDDLSDSTSLGTSVITTCTSVQEQGLKANNSKELSMCFTELTTNIIPGSNKVIKPNSGPSRARPSAALTVLSVLMLKLAL", "length": 359, "header": "sp|O00451-3|GFRA2_HUMAN Isoform 3 of GDNF family receptor alpha-2 OS=Homo sapiens OX=9606 GN=GFRA2 PE=1 SV=2 CANONICAL=O00451-1" }, "locus": { "chromosome": "8", "start_pos": 21788159, "end_pos": 21693281, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000517892.5", "url": "https://www.ensembl.org/id/ENST00000517892.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000429979.1", "url": "https://www.ensembl.org/id/ENSP00000429979.1" } ] } } ], "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 357, "start_aa": "Asn", "end_pos": 357, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn357", "evidence": [ { "id": "O00451", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O00451#ptm_processing" } ] }, { "glytoucan_ac": "G57321FI", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "GPSFQATQAPR", "relation": "attached", "comment": "Data provided by GlycoDomainViewer", "start_pos": 367, "start_aa": "Gly", "end_pos": 377, "end_aa": "Arg", "evidence": [ { "id": "O00451", "database": "UniCarbKB", "url": "" }, { "id": "23584533", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23584533" }, { "id": "10.1038/emboj.2013.79", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1038/emboj.2013.79" } ] }, { "glytoucan_ac": "G53434XO", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "", "start_pos": 396, "start_aa": "Thr", "end_pos": 396, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr396", "evidence": [ { "id": "O00451", "database": "UniCarbKB", "url": "" }, { "id": "30459171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30459171" } ] }, { "glytoucan_ac": "G57317CE", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "", "start_pos": 396, "start_aa": "Thr", "end_pos": 396, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr396", "evidence": [ { "id": "O00451", "database": "UniCarbKB", "url": "" }, { "id": "30459171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30459171" } ] }, { "glytoucan_ac": "G43417UB", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "", "start_pos": 401, "start_aa": "Thr", "end_pos": 401, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr401", "evidence": [ { "id": "O00451", "database": "UniCarbKB", "url": "" }, { "id": "30459171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30459171" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 413, "start_aa": "Asn", "end_pos": 413, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn413", "evidence": [ { "id": "O00451", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O00451#ptm_processing" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 52, "start_aa": "Asn", "end_pos": 52, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn52", "evidence": [ { "id": "O00451", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O00451#ptm_processing" }, { "id": "23090970", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23090970" }, { "id": "GLY_000143", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000143" }, { "id": "24190977", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/24190977" } ] } ], "phosphorylation": [], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_reported_with_glycan", "glycoprotein_predicted", "glycoprotein_reported" ], "publication": [ { "title": "Precision mapping of the human O-GalNAc glycoproteome through SimpleCell technology", "journal": "EMBO J", "date": "2013", "authors": "Steentoft C., Vakhrushev S.Y., Joshi H.J., Kong Y., Vester-Christensen M.B., Schjoldager K.T., Lavrsen K., Dabelsteen S., Pedersen N.B., Marcos-Silva L., Gupta R., Bennett E.P., Mandel U., Brunak S., Wandall H.H., Levery S.B., Clausen H.", "evidence": [ { "database": "UniCarbKB", "id": "O00451", "url": "" } ], "reference": [ { "type": "DOI", "id": "10.1038/emboj.2013.79", "url": "https://glygen.org/publication/DOI/10.1038/emboj.2013.79" } ] }, { "title": "Enhanced phosphatidylinositol 3-kinase activity and high phosphorylation state of its downstream signalling molecules mediated by ret with the MEN 2B mutation.", "journal": "Biochemical and biophysical research communications", "date": "1999", "authors": "Murakami H, Iwashita T, Asai N, Shimono Y, Iwata Y, Kawai K, Takahashi M", "evidence": [ { "database": "Reactome", "id": "R-HSA-8853659", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8853659" } ], "reference": [ { "type": "PubMed", "id": "10448070", "url": "https://glygen.org/publication/PubMed/10448070" } ] }, { "title": "Two co-existing mechanisms for nuclear import of MAP kinase: passive diffusion of a monomer and active transport of a dimer.", "journal": "The EMBO journal", "date": "1999", "authors": "Adachi M, Fukuda M, Nishida E", "evidence": [ { "database": "Reactome", "id": "R-HSA-5673001", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5673001" } ], "reference": [ { "type": "PubMed", "id": "10508167", "url": "https://glygen.org/publication/PubMed/10508167" } ] }, { "title": "A novel RalGEF-like protein, RGL3, as a candidate effector for rit and Ras.", "journal": "The Journal of biological chemistry", "date": "2000", "authors": "Shao H, Andres DA", "evidence": [ { "database": "Reactome", "id": "R-HSA-5673001", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5673001" } ], "reference": [ { "type": "PubMed", "id": "10869344", "url": "https://glygen.org/publication/PubMed/10869344" } ] }, { "title": "Signaling complexes and protein-protein interactions involved in the activation of the Ras and phosphatidylinositol 3-kinase pathways by the c-Ret receptor tyrosine kinase.", "journal": "The Journal of biological chemistry", "date": "2000", "authors": "Besset V, Scott RP, Ibanez CF", "evidence": [ { "database": "Reactome", "id": "R-HSA-8853659", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8853659" } ], "reference": [ { "type": "PubMed", "id": "10995764", "url": "https://glygen.org/publication/PubMed/10995764" } ] }, { "title": "Ret oncogene signal transduction via a IRS-2/PI 3-kinase/PKB and a SHC/Grb-2 dependent pathway: possible implication for transforming activity in NIH3T3 cells.", "journal": "Molecular and cellular endocrinology", "date": "2000", "authors": "Hennige AM, Lammers R, Arlt D, Hoppner W, Strack V, Niederfellner G, Seif FJ, Haring HU, Kellerer M", "evidence": [ { "database": "Reactome", "id": "R-HSA-8853659", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8853659" } ], "reference": [ { "type": "PubMed", "id": "11000521", "url": "https://glygen.org/publication/PubMed/11000521" } ] }, { "title": "Characterization of intracellular signals via tyrosine 1062 in RET activated by glial cell line-derived neurotrophic factor.", "journal": "Oncogene", "date": "2000", "authors": "Hayashi H, Ichihara M, Iwashita T, Murakami H, Shimono Y, Kawai K, Kurokawa K, Murakumo Y, Imai T, Funahashi H, Nakao A, Takahashi M", "evidence": [ { "database": "Reactome", "id": "R-HSA-8853659", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8853659" } ], "reference": [ { "type": "PubMed", "id": "11002419", "url": "https://glygen.org/publication/PubMed/11002419" } ] }, { "title": "Flt3 ligand induces tyrosine phosphorylation of gab1 and gab2 and their association with shp-2, grb2, and PI3 kinase.", "journal": "Biochemical and biophysical research communications", "date": "2000", "authors": "Zhang S, Broxmeyer HE", "evidence": [ { "database": "Reactome", "id": "R-HSA-5673001", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5673001" } ], "reference": [ { "type": "PubMed", "id": "11027663", "url": "https://glygen.org/publication/PubMed/11027663" } ] }, { "title": "Flt3 mutations from patients with acute myeloid leukemia induce transformation of 32D cells mediated by the Ras and STAT5 pathways.", "journal": "Blood", "date": "2000", "authors": "Mizuki M, Fenski R, Halfter H, Matsumura I, Schmidt R, Muller C, Gruning W, Kratz-Albers K, Serve S, Steur C, Buchner T, Kienast J, Kanakura Y, Berdel WE, Serve H", "evidence": [ { "database": "Reactome", "id": "R-HSA-5673001", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5673001" } ], "reference": [ { "type": "PubMed", "id": "11090077", "url": "https://glygen.org/publication/PubMed/11090077" } ] }, { "title": "Crystal structure and functional analysis of Ras binding to its effector phosphoinositide 3-kinase gamma.", "journal": "Cell", "date": "2000", "authors": "Pacold ME, Suire S, Perisic O, Lara-Gonzalez S, Davis CT, Walker EH, Hawkins PT, Stephens L, Eccleston JF, Williams RL", "evidence": [ { "database": "Reactome", "id": "R-HSA-5673001", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5673001" } ], "reference": [ { "type": "PubMed", "id": "11136978", "url": "https://glygen.org/publication/PubMed/11136978" } ] }, { "title": "Activation of BMK1 via tyrosine 1062 in RET by GDNF and MEN2A mutation.", "journal": "Biochemical and biophysical research communications", "date": "2001", "authors": "Hayashi Y, Iwashita T, Murakamai H, Kato Y, Kawai K, Kurokawa K, Tohnai I, Ueda M, Takahashi M", "evidence": [ { "database": "Reactome", "id": "R-HSA-8853659", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8853659" } ], "reference": [ { "type": "PubMed", "id": "11237712", "url": "https://glygen.org/publication/PubMed/11237712" } ] }, { "title": "A novel potential effector of M-Ras and p21 Ras negatively regulates p21 Ras-mediated gene induction and cell growth.", "journal": "Oncogene", "date": "2001", "authors": "Ehrhardt GR, Korherr C, Wieler JS, Knaus M, Schrader JW", "evidence": [ { "database": "Reactome", "id": "R-HSA-5673001", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5673001" } ], "reference": [ { "type": "PubMed", "id": "11313946", "url": "https://glygen.org/publication/PubMed/11313946" } ] }, { "title": "Identification of SNT/FRS2 docking site on RET receptor tyrosine kinase and its role for signal transduction.", "journal": "Oncogene", "date": "2001", "authors": "Kurokawa K, Iwashita T, Murakami H, Hayashi H, Kawai K, Takahashi M", "evidence": [ { "database": "Reactome", "id": "R-HSA-8853659", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8853659" } ], "reference": [ { "type": "PubMed", "id": "11360177", "url": "https://glygen.org/publication/PubMed/11360177" } ] }, { "title": "Docking protein FRS2 links the protein tyrosine kinase RET and its oncogenic forms with the mitogen-activated protein kinase signaling cascade.", "journal": "Molecular and cellular biology", "date": "2001", "authors": "Melillo RM, Santoro M, Ong SH, Billaud M, Fusco A, Hadari YR, Schlessinger J, Lax I", "evidence": [ { "database": "Reactome", "id": "R-HSA-8853659", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8853659" } ], "reference": [ { "type": "PubMed", "id": "11390647", "url": "https://glygen.org/publication/PubMed/11390647" } ] }, { "title": "Novel p62dok family members, dok-4 and dok-5, are substrates of the c-Ret receptor tyrosine kinase and mediate neuronal differentiation.", "journal": "The Journal of cell biology", "date": "2001", "authors": "Grimm J, Sachs M, Britsch S, Di Cesare S, Schwarz-Romond T, Alitalo K, Birchmeier W", "evidence": [ { "database": "Reactome", "id": "R-HSA-8853659", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8853659" } ], "reference": [ { "type": "PubMed", "id": "11470823", "url": "https://glygen.org/publication/PubMed/11470823" } ] }, { "title": "Osmotic stress-mediated activation of RET kinases involves intracellular disulfide-bonded dimer formation.", "journal": "Antioxidants & redox signaling", "date": "2001", "authors": "Takeda K, Kato M, Wu J, Iwashita T, Suzuki H, Takahashi M, Nakashima I", "evidence": [ { "database": "Reactome", "id": "R-HSA-8853659", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8853659" } ], "reference": [ { "type": "PubMed", "id": "11491658", "url": "https://glygen.org/publication/PubMed/11491658" } ] }, { "title": "Evidence for existence of a nuclear pore complex-mediated, cytosol-independent pathway of nuclear translocation of ERK MAP kinase in permeabilized cells.", "journal": "The Journal of biological chemistry", "date": "2001", "authors": "Matsubayashi Y, Fukuda M, Nishida E", "evidence": [ { "database": "Reactome", "id": "R-HSA-5673001", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5673001" } ], "reference": [ { "type": "PubMed", "id": "11546808", "url": "https://glygen.org/publication/PubMed/11546808" } ] }, { "title": "PEA-15 mediates cytoplasmic sequestration of ERK MAP kinase.", "journal": "Developmental cell", "date": "2001", "authors": "Formstecher E, Ramos JW, Fauquet M, Calderwood DA, Hsieh JC, Canton B, Nguyen XT, Barnier JV, Camonis J, Ginsberg MH, Chneiweiss H", "evidence": [ { "database": "Reactome", "id": "R-HSA-5673001", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5673001" } ], "reference": [ { "type": "PubMed", "id": "11702783", "url": "https://glygen.org/publication/PubMed/11702783" } ] }, { "title": "Novel mechanism of regulation of Rac activity and lamellipodia formation by RET tyrosine kinase.", "journal": "The Journal of biological chemistry", "date": "2002", "authors": "Fukuda T, Kiuchi K, Takahashi M", "evidence": [ { "database": "Reactome", "id": "R-HSA-8853659", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8853659" } ], "reference": [ { "type": "PubMed", "id": "11886862", "url": "https://glygen.org/publication/PubMed/11886862" } ] }, { "title": "ERK2 enters the nucleus by a carrier-independent mechanism.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2002", "authors": "Whitehurst AW, Wilsbacher JL, You Y, Luby-Phelps K, Moore MS, Cobb MH", "evidence": [ { "database": "Reactome", "id": "R-HSA-5673001", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5673001" } ], "reference": [ { "type": "PubMed", "id": "12032311", "url": "https://glygen.org/publication/PubMed/12032311" } ] }, { "title": "The phosphatidylinositol 3-Kinase AKT pathway in human cancer.", "journal": "Nature reviews. Cancer", "date": "2002", "authors": "Vivanco I, Sawyers CL", "evidence": [ { "database": "Reactome", "id": "R-HSA-5673001", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5673001" } ], "reference": [ { "type": "PubMed", "id": "12094235", "url": "https://glygen.org/publication/PubMed/12094235" } ] }, { "title": "Activation of phosphoinositide 3-kinase gamma by Ras.", "journal": "Current biology : CB", "date": "2002", "authors": "Suire S, Hawkins P, Stephens L", "evidence": [ { "database": "Reactome", "id": "R-HSA-5673001", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5673001" } ], "reference": [ { "type": "PubMed", "id": "12121613", "url": "https://glygen.org/publication/PubMed/12121613" } ] }, { "title": "The neuron-specific Rai (ShcC) adaptor protein inhibits apoptosis by coupling Ret to the phosphatidylinositol 3-kinase/Akt signaling pathway.", "journal": "Molecular and cellular biology", "date": "2002", "authors": "Pelicci G, Troglio F, Bodini A, Melillo RM, Pettirossi V, Coda L, De Giuseppe A, Santoro M, Pelicci PG", "evidence": [ { "database": "Reactome", "id": "R-HSA-8853659", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8853659" } ], "reference": [ { "type": "PubMed", "id": "12242309", "url": "https://glygen.org/publication/PubMed/12242309" } ] }, { "title": "Polysialyltransferases: major players in polysialic acid synthesis on the neural cell adhesion molecule.", "journal": "Biochimie", "date": "2003", "authors": "Angata K, Fukuda M", "evidence": [ { "database": "Reactome", "id": "R-HSA-419037", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-419037" } ], "reference": [ { "type": "PubMed", "id": "12765789", "url": "https://glygen.org/publication/PubMed/12765789" } ] }, { "title": "Protein kinase Calpha activation by RET: evidence for a negative feedback mechanism controlling RET tyrosine kinase.", "journal": "Oncogene", "date": "2003", "authors": "Andreozzi F, Melillo RM, Carlomagno F, Oriente F, Miele C, Fiory F, Santopietro S, Castellone MD, Beguinot F, Santoro M, Formisano P", "evidence": [ { "database": "Reactome", "id": "R-HSA-8853659", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8853659" } ], "reference": [ { "type": "PubMed", "id": "12771945", "url": "https://glygen.org/publication/PubMed/12771945" } ] }, { "title": "PEA-15 binding to ERK1/2 MAPKs is required for its modulation of integrin activation.", "journal": "The Journal of biological chemistry", "date": "2003", "authors": "Chou FL, Hill JM, Hsieh JC, Pouyssegur J, Brunet A, Glading A, Uberall F, Ramos JW, Werner MH, Ginsberg MH", "evidence": [ { "database": "Reactome", "id": "R-HSA-5673001", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5673001" } ], "reference": [ { "type": "PubMed", "id": "14506247", "url": "https://glygen.org/publication/PubMed/14506247" } ] }, { "title": "The death effector domain protein PEA-15 prevents nuclear entry of ERK2 by inhibiting required interactions.", "journal": "The Journal of biological chemistry", "date": "2004", "authors": "Whitehurst AW, Robinson FL, Moore MS, Cobb MH", "evidence": [ { "database": "Reactome", "id": "R-HSA-5673001", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5673001" } ], "reference": [ { "type": "PubMed", "id": "14707138", "url": "https://glygen.org/publication/PubMed/14707138" } ] }, { "title": "Tyrosine 981, a novel ret autophosphorylation site, binds c-Src to mediate neuronal survival.", "journal": "The Journal of biological chemistry", "date": "2004", "authors": "Encinas M, Crowder RJ, Milbrandt J, Johnson EM Jr", "evidence": [ { "database": "Reactome", "id": "R-HSA-8853659", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8853659" } ], "reference": [ { "type": "PubMed", "id": "14766744", "url": "https://glygen.org/publication/PubMed/14766744" } ] }, { "title": "The structure of GFRalpha1 domain 3 reveals new insights into GDNF binding and RET activation.", "journal": "The EMBO journal", "date": "2004", "authors": "Leppanen VM, Bespalov MM, Runeberg-Roos P, Puurand U, Merits A, Saarma M, Goldman A", "evidence": [ { "database": "Reactome", "id": "R-HSA-8853659", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8853659" } ], "reference": [ { "type": "PubMed", "id": "15044950", "url": "https://glygen.org/publication/PubMed/15044950" } ] }, { "title": "Dok-6, a Novel p62 Dok family member, promotes Ret-mediated neurite outgrowth.", "journal": "The Journal of biological chemistry", "date": "2004", "authors": "Crowder RJ, Enomoto H, Yang M, Johnson EM Jr, Milbrandt J", "evidence": [ { "database": "Reactome", "id": "R-HSA-8853659", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8853659" } ], "reference": [ { "type": "PubMed", "id": "15286081", "url": "https://glygen.org/publication/PubMed/15286081" } ] }, { "title": "Phosphorylation of Grb2-associated binder 2 on serine 623 by ERK MAPK regulates its association with the phosphatase SHP-2 and decreases STAT5 activation.", "journal": "Journal of immunology (Baltimore, Md. : 1950)", "date": "2004", "authors": "Arnaud M, Crouin C, Deon C, Loyaux D, Bertoglio J", "evidence": [ { "database": "Reactome", "id": "R-HSA-5673001", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5673001" } ], "reference": [ { "type": "PubMed", "id": "15356145", "url": "https://glygen.org/publication/PubMed/15356145" } ] }, { "title": "Nuclear localization and regulation of erk- and rsk-encoded protein kinases.", "journal": "Molecular and cellular biology", "date": "1992", "authors": "Chen RH, Sarnecki C, Blenis J", "evidence": [ { "database": "Reactome", "id": "R-HSA-5673001", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5673001" } ], "reference": [ { "type": "PubMed", "id": "1545823", "url": "https://glygen.org/publication/PubMed/1545823" } ] }, { "title": "Live Cell Imaging of ERK and MEK: simple binding equilibrium explains the regulated nucleocytoplasmic distribution of ERK.", "journal": "The Journal of biological chemistry", "date": "2005", "authors": "Burack WR, Shaw AS", "evidence": [ { "database": "Reactome", "id": "R-HSA-5673001", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5673001" } ], "reference": [ { "type": "PubMed", "id": "15546878", "url": "https://glygen.org/publication/PubMed/15546878" } ] }, { "title": "The neuronal scaffold protein Shank3 mediates signaling and biological function of the receptor tyrosine kinase Ret in epithelial cells.", "journal": "The Journal of cell biology", "date": "2004", "authors": "Schuetz G, Rosario M, Grimm J, Boeckers TM, Gundelfinger ED, Birchmeier W", "evidence": [ { "database": "Reactome", "id": "R-HSA-8853659", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8853659" } ], "reference": [ { "type": "PubMed", "id": "15569713", "url": "https://glygen.org/publication/PubMed/15569713" } ] }, { "title": "Genetic ablation of polysialic acid causes severe neurodevelopmental defects rescued by deletion of the neural cell adhesion molecule.", "journal": "The Journal of biological chemistry", "date": "2005", "authors": "Weinhold B, Seidenfaden R, Rockle I, Muhlenhoff M, Schertzinger F, Conzelmann S, Marth JD, Gerardy-Schahn R, Hildebrandt H", "evidence": [ { "database": "Reactome", "id": "R-HSA-419037", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-419037" } ], "reference": [ { "type": "PubMed", "id": "16267048", "url": "https://glygen.org/publication/PubMed/16267048" } ] }, { "title": "Roles of tyrosine 589 and 591 in STAT5 activation and transformation mediated by FLT3-ITD.", "journal": "Blood", "date": "2006", "authors": "Rocnik JL, Okabe R, Yu JC, Lee BH, Giese N, Schenkein DP, Gilliland DG", "evidence": [ { "database": "Reactome", "id": "R-HSA-5673001", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5673001" } ], "reference": [ { "type": "PubMed", "id": "16627759", "url": "https://glygen.org/publication/PubMed/16627759" } ] }, { "title": "Identification of Y589 and Y599 in the juxtamembrane domain of Flt3 as ligand-induced autophosphorylation sites involved in binding of Src family kinases and the protein tyrosine phosphatase SHP2.", "journal": "Blood", "date": "2006", "authors": "Heiss E, Masson K, Sundberg C, Pedersen M, Sun J, Bengtsson S, Ronnstrand L", "evidence": [ { "database": "Reactome", "id": "R-HSA-5673001", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5673001" } ], "reference": [ { "type": "PubMed", "id": "16684964", "url": "https://glygen.org/publication/PubMed/16684964" } ] }, { "title": "Association of p21ras with phosphatidylinositol 3-kinase.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1991", "authors": "Sjolander A, Yamamoto K, Huber BE, Lapetina EG", "evidence": [ { "database": "Reactome", "id": "R-HSA-5673001", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5673001" } ], "reference": [ { "type": "PubMed", "id": "1716764", "url": "https://glygen.org/publication/PubMed/1716764" } ] }, { "title": "Glial cell line-derived neurotrophic factor and neurturin inhibit neurite outgrowth and activate RhoA through GFR alpha 2b, an alternatively spliced isoform of GFR alpha 2.", "journal": "The Journal of neuroscience : the official journal of the Society for Neuroscience", "date": "2007", "authors": "Yoong LF, Too HP", "evidence": [ { "database": "RefSeq", "id": "NP_001158510", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001158510" } ], "reference": [ { "type": "PubMed", "id": "17522305", "url": "https://glygen.org/publication/PubMed/17522305" } ] }, { "title": "Oncogenic signaling of class I PI3K isoforms.", "journal": "Oncogene", "date": "2008", "authors": "Denley A, Kang S, Karst U, Vogt PK", "evidence": [ { "database": "Reactome", "id": "R-HSA-5673001", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5673001" } ], "reference": [ { "type": "PubMed", "id": "17998941", "url": "https://glygen.org/publication/PubMed/17998941" } ] }, { "title": "Polysialic acid in the plasticity of the developing and adult vertebrate nervous system.", "journal": "Nature reviews. Neuroscience", "date": "2008", "authors": "Rutishauser U", "evidence": [ { "database": "Reactome", "id": "R-HSA-419037", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-419037" } ], "reference": [ { "type": "PubMed", "id": "18059411", "url": "https://glygen.org/publication/PubMed/18059411" } ] }, { "title": "missing tag=TI", "journal": "missing tag=JT", "date": "missing", "authors": "author information missing", "evidence": [ { "database": "Reactome", "id": "R-HSA-419037", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-419037" } ], "reference": [ { "type": "PubMed", "id": "18607724", "url": "https://glygen.org/publication/PubMed/18607724" } ] }, { "title": "Essential role of ERK dimers in the activation of cytoplasmic but not nuclear substrates by ERK-scaffold complexes.", "journal": "Molecular cell", "date": "2008", "authors": "Casar B, Pinto A, Crespo P", "evidence": [ { "database": "Reactome", "id": "R-HSA-5673001", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5673001" } ], "reference": [ { "type": "PubMed", "id": "18775330", "url": "https://glygen.org/publication/PubMed/18775330" } ] }, { "title": "The GTPase superfamily: conserved structure and molecular mechanism.", "journal": "Nature", "date": "1991", "authors": "Bourne HR, Sanders DA, McCormick F", "evidence": [ { "database": "Reactome", "id": "R-HSA-5673001", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5673001" } ], "reference": [ { "type": "PubMed", "id": "1898771", "url": "https://glygen.org/publication/PubMed/1898771" } ] }, { "title": "ERK dimers and scaffold proteins: unexpected partners for a forgotten (cytoplasmic) task.", "journal": "Cell cycle (Georgetown, Tex.)", "date": "2009", "authors": "Casar B, Pinto A, Crespo P", "evidence": [ { "database": "Reactome", "id": "R-HSA-5673001", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5673001" } ], "reference": [ { "type": "PubMed", "id": "19279408", "url": "https://glygen.org/publication/PubMed/19279408" } ] }, { "title": "ERK nuclear translocation is dimerization-independent but controlled by the rate of phosphorylation.", "journal": "The Journal of biological chemistry", "date": "2010", "authors": "Lidke DS, Huang F, Post JN, Rieger B, Wilsbacher J, Thomas JL, Pouyssegur J, Jovin TM, Lenormand P", "evidence": [ { "database": "Reactome", "id": "R-HSA-5673001", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5673001" } ], "reference": [ { "type": "PubMed", "id": "19920141", "url": "https://glygen.org/publication/PubMed/19920141" } ] }, { "title": "RalGDS family members couple Ras to Ral signalling and that's not all.", "journal": "Cellular signalling", "date": "2010", "authors": "Ferro E, Trabalzini L", "evidence": [ { "database": "Reactome", "id": "R-HSA-5673001", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5673001" } ], "reference": [ { "type": "PubMed", "id": "20478380", "url": "https://glygen.org/publication/PubMed/20478380" } ] }, { "title": "Ras superfamily GEFs and GAPs: validated and tractable targets for cancer therapy?", "journal": "Nature reviews. Cancer", "date": "2010", "authors": "Vigil D, Cherfils J, Rossman KL, Der CJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-5673001", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5673001" } ], "reference": [ { "type": "PubMed", "id": "21102635", "url": "https://glygen.org/publication/PubMed/21102635" } ] }, { "title": "Activation and function of the MAPKs and their substrates, the MAPK-activated protein kinases.", "journal": "Microbiology and molecular biology reviews : MMBR", "date": "2011", "authors": "Cargnello M, Roux PP", "evidence": [ { "database": "Reactome", "id": "R-HSA-5673001", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5673001" } ], "reference": [ { "type": "PubMed", "id": "21372320", "url": "https://glygen.org/publication/PubMed/21372320" } ] }, { "title": "RAS Interaction with PI3K: More Than Just Another Effector Pathway.", "journal": "Genes & cancer", "date": "2011", "authors": "Castellano E, Downward J", "evidence": [ { "database": "Reactome", "id": "R-HSA-5673001", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5673001" } ], "reference": [ { "type": "PubMed", "id": "21779497", "url": "https://glygen.org/publication/PubMed/21779497" } ] }, { "title": "Therapeutic strategies for targeting ras proteins.", "journal": "Genes & cancer", "date": "2011", "authors": "Gysin S, Salt M, Young A, McCormick F", "evidence": [ { "database": "Reactome", "id": "R-HSA-5673001", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5673001" } ], "reference": [ { "type": "PubMed", "id": "21779505", "url": "https://glygen.org/publication/PubMed/21779505" } ] }, { "title": "RAS oncogenes: weaving a tumorigenic web.", "journal": "Nature reviews. Cancer", "date": "2011", "authors": "Pylayeva-Gupta Y, Grabocka E, Bar-Sagi D", "evidence": [ { "database": "Reactome", "id": "R-HSA-5673001", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5673001" } ], "reference": [ { "type": "PubMed", "id": "21993244", "url": "https://glygen.org/publication/PubMed/21993244" } ] }, { "title": "ERK1/2 MAP kinases: structure, function, and regulation.", "journal": "Pharmacological research", "date": "2012", "authors": "Roskoski R Jr", "evidence": [ { "database": "Reactome", "id": "R-HSA-5673001", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5673001" } ], "reference": [ { "type": "PubMed", "id": "22569528", "url": "https://glygen.org/publication/PubMed/22569528" } ] }, { "title": "A comprehensive survey of Ras mutations in cancer.", "journal": "Cancer research", "date": "2012", "authors": "Prior IA, Lewis PD, Mattos C", "evidence": [ { "database": "Reactome", "id": "R-HSA-5673001", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5673001" } ], "reference": [ { "type": "PubMed", "id": "22589270", "url": "https://glygen.org/publication/PubMed/22589270" } ] }, { "title": "Exome sequencing identifies recurrent SPOP, FOXA1 and MED12 mutations in prostate cancer.", "journal": "Nature genetics", "date": "2012", "authors": "Barbieri CE, Baca SC, Lawrence MS, Demichelis F, Blattner M, Theurillat JP, White TA, Stojanov P, Van Allen E, Stransky N, Nickerson E, Chae SS, Boysen G, Auclair D, Onofrio RC, Park K, Kitabayashi N, MacDonald TY, Sheikh K, Vuong T, Guiducci C, Cibulskis K, Sivachenko A, Carter SL, Saksena G, Voet D, Hussain WM, Ramos AH, Winckler W, Redman MC, Ardlie K, Tewari AK, Mosquera JM, Rupp N, Wild PJ, Moch H, Morrissey C, Nelson PS, Kantoff PW, Gabriel SB, Golub TR, Meyerson M, Lander ES, Getz G, Rubin MA, Garraway LA", "evidence": [ { "database": "dbSNP", "id": "rs765796593", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs765796593" } ], "reference": [ { "type": "PubMed", "id": "22610119", "url": "https://glygen.org/publication/PubMed/22610119" } ] }, { "title": "Probing the GTPase cycle with real-time NMR: GAP and GEF activities in cell extracts.", "journal": "Methods (San Diego, Calif.)", "date": "2012", "authors": "Marshall CB, Meiri D, Smith MJ, Mazhab-Jafari MT, Gasmi-Seabrook GM, Rottapel R, Stambolic V, Ikura M", "evidence": [ { "database": "Reactome", "id": "R-HSA-5673001", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5673001" } ], "reference": [ { "type": "PubMed", "id": "22750304", "url": "https://glygen.org/publication/PubMed/22750304" } ] }, { "title": "Quantification of the N-glycosylated secretome by super-SILAC during breast cancer progression and in human blood samples.", "journal": "Molecular & cellular proteomics : MCP", "date": "2013", "authors": "Boersema PJ, Geiger T, Wisniewski JR, Mann M", "evidence": [ { "database": "GlyGen", "id": "GLY_000143", "url": "https://data.glygen.org/GLY_000143" } ], "reference": [ { "type": "PubMed", "id": "23090970", "url": "https://glygen.org/publication/PubMed/23090970" } ] }, { "title": "The protein tyrosine phosphatase, Shp2, positively contributes to FLT3-ITD-induced hematopoietic progenitor hyperproliferation and malignant disease in vivo.", "journal": "Leukemia", "date": "2013", "authors": "Nabinger SC, Li XJ, Ramdas B, He Y, Zhang X, Zeng L, Richine B, Bowling JD, Fukuda S, Goenka S, Liu Z, Feng GS, Yu M, Sandusky GE, Boswell HS, Zhang ZY, Kapur R, Chan RJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-5673001", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5673001" } ], "reference": [ { "type": "PubMed", "id": "23103841", "url": "https://glygen.org/publication/PubMed/23103841" } ] }, { "title": "Regulation of small GTPases by GEFs, GAPs, and GDIs.", "journal": "Physiological reviews", "date": "2013", "authors": "Cherfils J, Zeghouf M", "evidence": [ { "database": "Reactome", "id": "R-HSA-5673001", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5673001" } ], "reference": [ { "type": "PubMed", "id": "23303910", "url": "https://glygen.org/publication/PubMed/23303910" } ] }, { "title": "SorLA controls neurotrophic activity by sorting of GDNF and its receptors GFRalpha1 and RET.", "journal": "Cell Rep.", "date": "2013", "authors": "Glerup Simon, Lume Maria, Olsen Ditte, Nyengaard Jens R, Vaegter Christian B, Gustafsen Camilla, Christensen Erik I, Kjolby Mads, Hay-Schmidt Anders, Bender Dirk, Madsen Peder, Saarma Mart, Nykjaer Anders, Petersen Claus M", "evidence": [ { "database": "UniProtKB", "id": "O00451", "url": "https://www.uniprot.org/uniprot/O00451" } ], "reference": [ { "type": "PubMed", "id": "23333276", "url": "https://glygen.org/publication/PubMed/23333276" } ] }, { "title": "Nonredundant functions for Ras GTPase-activating proteins in tissue homeostasis.", "journal": "Science signaling", "date": "2013", "authors": "King PD, Lubeck BA, Lapinski PE", "evidence": [ { "database": "Reactome", "id": "R-HSA-5673001", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5673001" } ], "reference": [ { "type": "PubMed", "id": "23443682", "url": "https://glygen.org/publication/PubMed/23443682" } ] }, { "title": "Structure of ERK2 bound to PEA-15 reveals a mechanism for rapid release of activated MAPK.", "journal": "Nature communications", "date": "2013", "authors": "Mace PD, Wallez Y, Egger MF, Dobaczewska MK, Robinson H, Pasquale EB, Riedl SJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-5673001", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5673001" } ], "reference": [ { "type": "PubMed", "id": "23575685", "url": "https://glygen.org/publication/PubMed/23575685" } ] }, { "title": "Precision mapping of the human O-GalNAc glycoproteome through SimpleCell technology.", "journal": "The EMBO journal", "date": "2013", "authors": "Steentoft C, Vakhrushev SY, Joshi HJ, Kong Y, Vester-Christensen MB, Schjoldager KT, Lavrsen K, Dabelsteen S, Pedersen NB, Marcos-Silva L, Gupta R, Bennett EP, Mandel U, Brunak S, Wandall HH, Levery SB, Clausen H", "evidence": [ { "database": "UniCarbKB", "id": "O00451", "url": "" } ], "reference": [ { "type": "PubMed", "id": "23584533", "url": "https://glygen.org/publication/PubMed/23584533" } ] }, { "title": "N-linked glycosylation enrichment for in-depth cell surface proteomics of diffuse large B-cell lymphoma subtypes.", "journal": "Molecular & cellular proteomics : MCP", "date": "2014", "authors": "Deeb SJ, Cox J, Schmidt-Supprian M, Mann M", "evidence": [ { "database": "GlyGen", "id": "GLY_000143", "url": "https://data.glygen.org/GLY_000143" } ], "reference": [ { "type": "PubMed", "id": "24190977", "url": "https://glygen.org/publication/PubMed/24190977" } ] }, { "title": "PI3K/AKT signaling pathway and cancer: an updated review.", "journal": "Annals of medicine", "date": "2014", "authors": "Martini M, De Santis MC, Braccini L, Gulluni F, Hirsch E", "evidence": [ { "database": "Reactome", "id": "R-HSA-5673001", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5673001" } ], "reference": [ { "type": "PubMed", "id": "24897931", "url": "https://glygen.org/publication/PubMed/24897931" } ] }, { "title": "`RAF` neighborhood: protein-protein interaction in the Raf/Mek/Erk pathway.", "journal": "FEBS letters", "date": "2014", "authors": "Cseh B, Doma E, Baccarini M", "evidence": [ { "database": "Reactome", "id": "R-HSA-5673001", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5673001" } ], "reference": [ { "type": "PubMed", "id": "24937142", "url": "https://glygen.org/publication/PubMed/24937142" } ] }, { "title": "Ral small GTPase signaling and oncogenesis: More than just 15minutes of fame.", "journal": "Biochimica et biophysica acta", "date": "2014", "authors": "Gentry LR, Martin TD, Reiner DJ, Der CJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-5673001", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5673001" } ], "reference": [ { "type": "PubMed", "id": "25219551", "url": "https://glygen.org/publication/PubMed/25219551" } ] }, { "title": "Ras activation revisited: role of GEF and GAP systems.", "journal": "Biological chemistry", "date": "2015", "authors": "Hennig A, Markwart R, Esparza-Franco MA, Ladds G, Rubio I", "evidence": [ { "database": "Reactome", "id": "R-HSA-5673001", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5673001" } ], "reference": [ { "type": "PubMed", "id": "25781681", "url": "https://glygen.org/publication/PubMed/25781681" } ] }, { "title": "The Key Role of Calmodulin in KRAS-Driven Adenocarcinomas.", "journal": "Molecular cancer research : MCR", "date": "2015", "authors": "Nussinov R, Muratcioglu S, Tsai CJ, Jang H, Gursoy A, Keskin O", "evidence": [ { "database": "Reactome", "id": "R-HSA-5673001", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5673001" } ], "reference": [ { "type": "PubMed", "id": "26085527", "url": "https://glygen.org/publication/PubMed/26085527" } ] }, { "title": "GFRalpha2 prompts cell growth and chemoresistance through down-regulating tumor suppressor gene PTEN via Mir-17-5p in pancreatic cancer.", "journal": "Cancer letters", "date": "2016", "authors": "Gu J, Wang D, Zhang J, Zhu Y, Li Y, Chen H, Shi M, Wang X, Shen B, Deng X, Zhan Q, Wei G, Peng C", "evidence": [ { "database": "RefSeq", "id": "NP_001158510", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001158510" } ], "reference": [ { "type": "PubMed", "id": "27400681", "url": "https://glygen.org/publication/PubMed/27400681" } ] }, { "title": "Binding properties of the neural cell adhesion molecule to different components of the extracellular matrix.", "journal": "Journal of neurochemistry", "date": "1989", "authors": "Probstmeier R, Kuhn K, Schachner M", "evidence": [ { "database": "Reactome", "id": "R-HSA-419037", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-419037" } ], "reference": [ { "type": "PubMed", "id": "2809592", "url": "https://glygen.org/publication/PubMed/2809592" } ] }, { "title": "Targeting Ras with Macromolecules.", "journal": "Cold Spring Harbor perspectives in medicine", "date": "2018", "authors": "Pei D, Chen K, Liao H", "evidence": [ { "database": "Reactome", "id": "R-HSA-5673001", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5673001" } ], "reference": [ { "type": "PubMed", "id": "28778966", "url": "https://glygen.org/publication/PubMed/28778966" } ] }, { "title": "Structure and biophysical characterization of the human full-length neurturin-GFRa2 complex: A role for heparan sulfate in signaling.", "journal": "The Journal of biological chemistry", "date": "2018", "authors": "Sandmark J, Dahl G, Oster L, Xu B, Johansson P, Akerud T, Aagaard A, Davidsson P, Bigalke JM, Winzell MS, Rainey GJ, Roth RG", "evidence": [ { "database": "RefSeq", "id": "NP_001158510", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001158510" } ], "reference": [ { "type": "PubMed", "id": "29414779", "url": "https://glygen.org/publication/PubMed/29414779" } ] }, { "title": "Potential genetic modifiers of disease risk and age at onset in patients with frontotemporal lobar degeneration and GRN mutations: a genome-wide association study.", "journal": "The Lancet. Neurology", "date": "2018", "authors": "Pottier C, Zhou X, Perkerson RB 3rd, Baker M, Jenkins GD, Serie DJ, Ghidoni R, Benussi L, Binetti G, Lopez de Munain A, Zulaica M, Moreno F, Le Ber I, Pasquier F, Hannequin D, Sanchez-Valle R, Antonell A, Llado A, Parsons TM, Finch NA, Finger EC, Lippa CF, Huey ED, Neumann M, Heutink P, Synofzik M, Wilke C, Rissman RA, Slawek J, Sitek E, Johannsen P, Nielsen JE, Ren Y, van Blitterswijk M, DeJesus-Hernandez M, Christopher E, Murray ME, Bieniek KF, Evers BM, Ferrari C, Rollinson S, Richardson A, Scarpini E, Fumagalli GG, Padovani A, Hardy J, Momeni P, Ferrari R, Frangipane F, Maletta R, Anfossi M, Gallo M, Petrucelli L, Suh E, Lopez OL, Wong TH, van Rooij JGJ, Seelaar H, Mead S, Caselli RJ, Reiman EM, Noel Sabbagh M, Kjolby M, Nykjaer A, Karydas AM, Boxer AL, Grinberg LT, Grafman J, Spina S, Oblak A, Mesulam MM, Weintraub S, Geula C, Hodges JR, Piguet O, Brooks WS, Irwin DJ, Trojanowski JQ, Lee EB, Josephs KA, Parisi JE, Ertekin-Taner N, Knopman DS, Nacmias B, Piaceri I, Bagnoli S, Sorbi S, Gearing M, Glass J, Beach TG, Black SE, Masellis M, Rogaeva E, Vonsattel JP, Honig LS, Kofler J, Bruni AC, Snowden J, Mann D, Pickering-Brown S, Diehl-Schmid J, Winkelmann J, Galimberti D, Graff C, Oijerstedt L, Troakes C, Al-Sarraj S, Cruchaga C, Cairns NJ, Rohrer JD, Halliday GM, Kwok JB, van Swieten JC, White CL 3rd, Ghetti B, Murell JR, Mackenzie IRA, Hsiung GR, Borroni B, Rossi G, Tagliavini F, Wszolek ZK, Petersen RC, Bigio EH, Grossman M, Van Deerlin VM, Seeley WW, Miller BL, Graff-Radford NR, Boeve BF, Dickson DW, Biernacka JM, Rademakers R", "evidence": [ { "database": "RefSeq", "id": "NP_001158510", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001158510" } ], "reference": [ { "type": "PubMed", "id": "29724592", "url": "https://glygen.org/publication/PubMed/29724592" } ] }, { "title": "Mapping the O-glycoproteome using site-specific extraction of O-linked glycopeptides (EXoO).", "journal": "Molecular systems biology", "date": "2018", "authors": "Yang W, Ao M, Hu Y, Li QK, Zhang H", "evidence": [ { "database": "UniCarbKB", "id": "O00451", "url": "" } ], "reference": [ { "type": "PubMed", "id": "30459171", "url": "https://glygen.org/publication/PubMed/30459171" } ] }, { "title": "GDNF family receptor alpha 2 promotes neuroblastoma cell proliferation by interacting with PTEN.", "journal": "Biochemical and biophysical research communications", "date": "2019", "authors": "Li Z, Xie J, Fei Y, Gao P, Xie Q, Gao W, Xu Z", "evidence": [ { "database": "RefSeq", "id": "NP_001158510", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001158510" } ], "reference": [ { "type": "PubMed", "id": "30722993", "url": "https://glygen.org/publication/PubMed/30722993" } ] }, { "title": "The structural basis for Ras activation of PI3Kalpha lipid kinase.", "journal": "Physical chemistry chemical physics : PCCP", "date": "2019", "authors": "Zhang M, Jang H, Nussinov R", "evidence": [ { "database": "Reactome", "id": "R-HSA-5673001", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5673001" } ], "reference": [ { "type": "PubMed", "id": "31135801", "url": "https://glygen.org/publication/PubMed/31135801" } ] }, { "title": "Cryo-EM structure of the activated RET signaling complex reveals the importance of its cysteine-rich domain.", "journal": "Science advances", "date": "2019", "authors": "Bigalke JM, Aibara S, Roth R, Dahl G, Gordon E, Dorbeus S, Amunts A, Sandmark J", "evidence": [ { "database": "RefSeq", "id": "NP_001158510", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001158510" } ], "reference": [ { "type": "PubMed", "id": "31392261", "url": "https://glygen.org/publication/PubMed/31392261" } ] }, { "title": "Intrinsic GTPase activity distinguishes normal and oncogenic ras p21 molecules.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1984", "authors": "Gibbs JB, Sigal IS, Poe M, Scolnick EM", "evidence": [ { "database": "Reactome", "id": "R-HSA-5673001", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5673001" } ], "reference": [ { "type": "PubMed", "id": "6148751", "url": "https://glygen.org/publication/PubMed/6148751" } ] }, { "title": "The Ret receptor protein tyrosine kinase associates with the SH2-containing adapter protein Grb10.", "journal": "The Journal of biological chemistry", "date": "1995", "authors": "Pandey A, Duan H, Di Fiore PP, Dixit VM", "evidence": [ { "database": "Reactome", "id": "R-HSA-8853659", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8853659" } ], "reference": [ { "type": "PubMed", "id": "7665556", "url": "https://glygen.org/publication/PubMed/7665556" } ] }, { "title": "Identification of the guanine nucleotide dissociation stimulator for Ral as a putative effector molecule of R-ras, H-ras, K-ras, and Rap.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1994", "authors": "Spaargaren M, Bischoff JR", "evidence": [ { "database": "Reactome", "id": "R-HSA-5673001", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5673001" } ], "reference": [ { "type": "PubMed", "id": "7809086", "url": "https://glygen.org/publication/PubMed/7809086" } ] }, { "title": "ralGDS family members interact with the effector loop of ras p21.", "journal": "Molecular and cellular biology", "date": "1994", "authors": "Kikuchi A, Demo SD, Ye ZH, Chen YW, Williams LT", "evidence": [ { "database": "Reactome", "id": "R-HSA-5673001", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5673001" } ], "reference": [ { "type": "PubMed", "id": "7935463", "url": "https://glygen.org/publication/PubMed/7935463" } ] }, { "title": "Activated Ras interacts with the Ral guanine nucleotide dissociation stimulator.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1994", "authors": "Hofer F, Fields S, Schneider C, Martin GS", "evidence": [ { "database": "Reactome", "id": "R-HSA-5673001", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5673001" } ], "reference": [ { "type": "PubMed", "id": "7972015", "url": "https://glygen.org/publication/PubMed/7972015" } ] }, { "title": "Phosphatidylinositol-3-OH kinase as a direct target of Ras.", "journal": "Nature", "date": "1994", "authors": "Rodriguez-Viciana P, Warne PH, Dhand R, Vanhaesebroeck B, Gout I, Fry MJ, Waterfield MD, Downward J", "evidence": [ { "database": "Reactome", "id": "R-HSA-5673001", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5673001" } ], "reference": [ { "type": "PubMed", "id": "8052307", "url": "https://glygen.org/publication/PubMed/8052307" } ] }, { "title": "Demonstration of (Ca(2+)-Mg2+)-ATPase activity of the neural cell adhesion molecule.", "journal": "FEBS letters", "date": "1993", "authors": "Dzhandzhugazyan K, Bock E", "evidence": [ { "database": "Reactome", "id": "R-HSA-419037", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-419037" } ], "reference": [ { "type": "PubMed", "id": "8262246", "url": "https://glygen.org/publication/PubMed/8262246" } ] }, { "title": "Growth factors induce nuclear translocation of MAP kinases (p42mapk and p44mapk) but not of their activator MAP kinase kinase (p45mapkk) in fibroblasts.", "journal": "The Journal of cell biology", "date": "1993", "authors": "Lenormand P, Sardet C, Pages G, L'Allemain G, Brunet A, Pouyssegur J", "evidence": [ { "database": "Reactome", "id": "R-HSA-5673001", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5673001" } ], "reference": [ { "type": "PubMed", "id": "8394845", "url": "https://glygen.org/publication/PubMed/8394845" } ] }, { "title": "Human Sos1: a guanine nucleotide exchange factor for Ras that binds to GRB2.", "journal": "Science (New York, N.Y.)", "date": "1993", "authors": "Chardin P, Camonis JH, Gale NW, van Aelst L, Schlessinger J, Wigler MH, Bar-Sagi D", "evidence": [ { "database": "Reactome", "id": "R-HSA-5673001", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5673001" } ], "reference": [ { "type": "PubMed", "id": "8493579", "url": "https://glygen.org/publication/PubMed/8493579" } ] }, { "title": "The full oncogenic activity of Ret/ptc2 depends on tyrosine 539, a docking site for phospholipase Cgamma.", "journal": "Molecular and cellular biology", "date": "1996", "authors": "Borrello MG, Alberti L, Arighi E, Bongarzone I, Battistini C, Bardelli A, Pasini B, Piutti C, Rizzetti MG, Mondellini P, Radice MT, Pierotti MA", "evidence": [ { "database": "Reactome", "id": "R-HSA-8853659", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8853659" } ], "reference": [ { "type": "PubMed", "id": "8628282", "url": "https://glygen.org/publication/PubMed/8628282" } ] }, { "title": "Direct association between the Ret receptor tyrosine kinase and the Src homology 2-containing adapter protein Grb7.", "journal": "The Journal of biological chemistry", "date": "1996", "authors": "Pandey A, Liu X, Dixon JE, Di Fiore PP, Dixit VM", "evidence": [ { "database": "Reactome", "id": "R-HSA-8853659", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8853659" } ], "reference": [ { "type": "PubMed", "id": "8631863", "url": "https://glygen.org/publication/PubMed/8631863" } ] }, { "title": "Identification of tyrosine residues that are essential for transforming activity of the ret proto-oncogene with MEN2A or MEN2B mutation.", "journal": "Oncogene", "date": "1996", "authors": "Iwashita T, Asai N, Murakami H, Matsuyama M, Takahashi M", "evidence": [ { "database": "Reactome", "id": "R-HSA-8853659", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8853659" } ], "reference": [ { "type": "PubMed", "id": "8637703", "url": "https://glygen.org/publication/PubMed/8637703" } ] }, { "title": "Mitogenic signaling by Ret/ptc2 requires association with enigma via a LIM domain.", "journal": "The Journal of biological chemistry", "date": "1996", "authors": "Durick K, Wu RY, Gill GN, Taylor SS", "evidence": [ { "database": "Reactome", "id": "R-HSA-8853659", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8853659" } ], "reference": [ { "type": "PubMed", "id": "8662982", "url": "https://glygen.org/publication/PubMed/8662982" } ] }, { "title": "A mutation at tyrosine 1062 in MEN2A-Ret and MEN2B-Ret impairs their transforming activity and association with shc adaptor proteins.", "journal": "The Journal of biological chemistry", "date": "1996", "authors": "Asai N, Murakami H, Iwashita T, Takahashi M", "evidence": [ { "database": "Reactome", "id": "R-HSA-8853659", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8853659" } ], "reference": [ { "type": "PubMed", "id": "8663426", "url": "https://glygen.org/publication/PubMed/8663426" } ] }, { "title": "Activation of phosphoinositide 3-kinase by interaction with Ras and by point mutation.", "journal": "The EMBO journal", "date": "1996", "authors": "Rodriguez-Viciana P, Warne PH, Vanhaesebroeck B, Waterfield MD, Downward J", "evidence": [ { "database": "Reactome", "id": "R-HSA-5673001", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5673001" } ], "reference": [ { "type": "PubMed", "id": "8665852", "url": "https://glygen.org/publication/PubMed/8665852" } ] }, { "title": "GDNF-induced activation of the ret protein tyrosine kinase is mediated by GDNFR-alpha, a novel receptor for GDNF.", "journal": "Cell", "date": "1996", "authors": "Jing S, Wen D, Yu Y, Holst PL, Luo Y, Fang M, Tamir R, Antonio L, Hu Z, Cupples R, Louis JC, Hu S, Altrock BW, Fox GM", "evidence": [ { "database": "Reactome", "id": "R-HSA-8853659", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8853659" } ], "reference": [ { "type": "PubMed", "id": "8674117", "url": "https://glygen.org/publication/PubMed/8674117" } ] }, { "title": "RalGDS-like factor (Rlf) is a novel Ras and Rap 1A-associating protein.", "journal": "Oncogene", "date": "1996", "authors": "Wolthuis RM, Bauer B, van 't Veer LJ, de Vries-Smits AM, Cool RH, Spaargaren M, Wittinghofer A, Burgering BM, Bos JL", "evidence": [ { "database": "Reactome", "id": "R-HSA-5673001", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5673001" } ], "reference": [ { "type": "PubMed", "id": "8710374", "url": "https://glygen.org/publication/PubMed/8710374" } ] }, { "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 Shc docking site on Ret tyrosine kinase.", "journal": "Oncogene", "date": "1997", "authors": "Arighi E, Alberti L, Torriti F, Ghizzoni S, Rizzetti MG, Pelicci G, Pasini B, Bongarzone I, Piutti C, Pierotti MA, Borrello MG", "evidence": [ { "database": "Reactome", "id": "R-HSA-8853659", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8853659" } ], "reference": [ { "type": "PubMed", "id": "9047384", "url": "https://glygen.org/publication/PubMed/9047384" } ] }, { "title": "Glial cell line-derived neurotrophic factor-dependent RET activation can be mediated by two different cell-surface accessory proteins.", "journal": "Proc. Natl. Acad. Sci. U.S.A.", "date": "1997", "authors": "Sanicola M, Hession C, Worley D, Carmillo P, Ehrenfels C, Walus L, Robinson S, Jaworski G, Wei H, Tizard R, Whitty A, Pepinsky R B, Cate R L", "evidence": [ { "database": "UniProtKB", "id": "O00451", "url": "https://www.uniprot.org/uniprot/O00451" } ], "reference": [ { "type": "PubMed", "id": "9177201", "url": "https://glygen.org/publication/PubMed/9177201" } ] }, { "title": "TrnR2, a novel receptor that mediates neurturin and GDNF signaling through Ret.", "journal": "Neuron", "date": "1997", "authors": "Baloh R H, Tansey M G, Golden J P, Creedon D J, Heuckeroth R O, Keck C L, Zimonjic D B, Popescu N C, Johnson E M, Milbrandt J", "evidence": [ { "database": "UniProtKB", "id": "O00451", "url": "https://www.uniprot.org/uniprot/O00451" } ], "reference": [ { "type": "PubMed", "id": "9182803", "url": "https://glygen.org/publication/PubMed/9182803" } ] }, { "title": "Neurturin shares receptors and signal transduction pathways with glial cell line-derived neurotrophic factor in sympathetic neurons.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1997", "authors": "Creedon DJ, Tansey MG, Baloh RH, Osborne PA, Lampe PA, Fahrner TJ, Heuckeroth RO, Milbrandt J, Johnson EM Jr", "evidence": [ { "database": "Reactome", "id": "R-HSA-8853659", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8853659" } ], "reference": [ { "type": "PubMed", "id": "9192684", "url": "https://glygen.org/publication/PubMed/9192684" } ] }, { "title": "Cloning, mRNA distribution and chromosomal localisation of the gene for glial cell line-derived neurotrophic factor receptor beta, a homologue to GDNFR-alpha.", "journal": "Hum. Mol. Genet.", "date": "1997", "authors": "Suvanto P, Wartiovaara K, Lindahl M, Arumae U, Moshnyakov M, Horelli-Kuitunen N, Airaksinen MS, Palotie A, Sariola H, Saarma M", "evidence": [ { "database": "UniProtKB", "id": "O00451", "url": "https://www.uniprot.org/uniprot/O00451" } ], "reference": [ { "type": "PubMed", "id": "9259272", "url": "https://glygen.org/publication/PubMed/9259272" } ] }, { "title": "Characterization of Ret-Shc-Grb2 complex induced by GDNF, MEN 2A, and MEN 2B mutations.", "journal": "Biochemical and biophysical research communications", "date": "1997", "authors": "Ohiwa M, Murakami H, Iwashita T, Asai N, Iwata Y, Imai T, Funahashi H, Takagi H, Takahashi M", "evidence": [ { "database": "Reactome", "id": "R-HSA-8853659", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8853659" } ], "reference": [ { "type": "PubMed", "id": "9299438", "url": "https://glygen.org/publication/PubMed/9299438" } ] }, { "title": "Demonstration of an extracellular ATP-binding site in NCAM: functional implications of nucleotide binding.", "journal": "Biochemistry", "date": "1997", "authors": "Dzhandzhugazyan K, Bock E", "evidence": [ { "database": "Reactome", "id": "R-HSA-419037", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-419037" } ], "reference": [ { "type": "PubMed", "id": "9398268", "url": "https://glygen.org/publication/PubMed/9398268" } ] }, { "title": "GFRalpha-2 and GFRalpha-3 are two new receptors for ligands of the GDNF family.", "journal": "The Journal of biological chemistry", "date": "1997", "authors": "Jing S, Yu Y, Fang M, Hu Z, Holst PL, Boone T, Delaney J, Schultz H, Zhou R, Fox GM", "evidence": [ { "database": "Reactome", "id": "R-HSA-8853659", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8853659" } ], "reference": [ { "type": "PubMed", "id": "9407096", "url": "https://glygen.org/publication/PubMed/9407096" } ] }, { "title": "Persephin, a novel neurotrophic factor related to GDNF and neurturin.", "journal": "Neuron", "date": "1998", "authors": "Milbrandt J, de Sauvage FJ, Fahrner TJ, Baloh RH, Leitner ML, Tansey MG, Lampe PA, Heuckeroth RO, Kotzbauer PT, Simburger KS, Golden JP, Davies JA, Vejsada R, Kato AC, Hynes M, Sherman D, Nishimura M, Wang LC, Vandlen R, Moffat B, Klein RD, Poulsen K, Gray C, Garces A, Johnson EM Jr, et al.", "evidence": [ { "database": "Reactome", "id": "R-HSA-8853659", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8853659" } ], "reference": [ { "type": "PubMed", "id": "9491986", "url": "https://glygen.org/publication/PubMed/9491986" } ] }, { "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": "Grb2 binding to the different isoforms of Ret tyrosine kinase.", "journal": "Oncogene", "date": "1998", "authors": "Alberti L, Borrello MG, Ghizzoni S, Torriti F, Rizzetti MG, Pierotti MA", "evidence": [ { "database": "Reactome", "id": "R-HSA-8853659", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8853659" } ], "reference": [ { "type": "PubMed", "id": "9764818", "url": "https://glygen.org/publication/PubMed/9764818" } ] }, { "title": "Artemin, a novel member of the GDNF ligand family, supports peripheral and central neurons and signals through the GFRalpha3-RET receptor complex.", "journal": "Neuron", "date": "1998", "authors": "Baloh RH, Tansey MG, Lampe PA, Fahrner TJ, Enomoto H, Simburger KS, Leitner ML, Araki T, Johnson EM Jr, Milbrandt J", "evidence": [ { "database": "Reactome", "id": "R-HSA-8853659", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8853659" } ], "reference": [ { "type": "PubMed", "id": "9883723", "url": "https://glygen.org/publication/PubMed/9883723" } ] }, { "title": "Nuclear translocation of p42/p44 mitogen-activated protein kinase is required for growth factor-induced gene expression and cell cycle entry.", "journal": "The EMBO journal", "date": "1999", "authors": "Brunet A, Roux D, Lenormand P, Dowd S, Keyse S, Pouyssegur J", "evidence": [ { "database": "Reactome", "id": "R-HSA-5673001", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5673001" } ], "reference": [ { "type": "PubMed", "id": "9927426", "url": "https://glygen.org/publication/PubMed/9927426" } ] } ], "pathway": [ { "id": "hsa:2675", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:2675", "resource": "KEGG Pathway" }, { "id": "R-HSA-419037", "name": "NCAM1 interactions", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-419037", "resource": "Reactome", "description": "NCAM1 interactions" }, { "id": "R-HSA-5673001", "name": "RAF/MAP kinase cascade", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5673001", "resource": "Reactome", "description": "RAF/MAP kinase cascade" }, { "id": "R-HSA-8853659", "name": "RET signaling", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8853659", "resource": "Reactome", "description": "RET signaling" } ], "orthologs": [ { "uniprot_canonical_ac": "O08842-1", "protein_name": "GDNF family receptor alpha-2", "gene_name": "Gfra2", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MILANAFCLFFFLDETLRSLASPSSPQGSELHGWRPQVDCVRANELCAAESNCSSRYRTLRQCLAGRDRNTMLANKECQAALEVLQESPLYDCRCKRGMKKELQCLQIYWSIHLGLTEGEEFYEASPYEPVTSRLSDIFRLASIFSGTGADPVVSAKSNHCLDAAKACNLNDNCKKLRSSYISICNREISPTERCNRRKCHKALRQFFDRVPSEYTYRMLFCSCQDQACAERRRQTILPSCSYEDKEKPNCLDLRSLCRTDHLCRSRLADFHANCRASYRTITSCPADNYQACLGSYAGMIGFDMTPNYVDSNPTGIVVSPWCNCRGSGNMEEECEKFLKDFTENPCLRNAIQAFGNGTDVNMSPKGPTFSATQAPRVEKTPSLPDDLSDSTSLGTSVITTCTSIQEQGLKANNSKELSMCFTELTTNISPGSKKVIKLYSGSCRARLSTALTALPLLMVTLAQ", "length": 464 }, "evidence": [ { "id": "45918824", "url": "http://www.informatics.jax.org/homology/45918824", "database": "MGI" }, { "id": "O00451", "url": "https://omabrowser.org/oma/group/O00451/", "database": "OMA" } ], "common_name": "Mouse" }, { "uniprot_canonical_ac": "O35977-1", "protein_name": "GDNF family receptor alpha-2", "gene_name": "Gfra2", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "MILANAFCLFFFLDETLRSLASPSSLQGSELHGWRPQVDCVRANELCAAESNCSSRYRTLRQCLAGRDRNTMLANKECQAALEVLQESPLYDCRCKRGMKKELQCLQIYWSIHLGLTEGEEFYEASPYEPVTSRLSDIFRLASIFSGTGTDPAVSTKSNHCLDAAKACNLNDNCKKLRSSYISICNREISPTERCNRRKCHKALRQFFDRVPSEYTYRMLFCSCQDQACAERRRQTILPSCSYEDKEKPNCLDLRSLCRTDHLCRSRLADFHANCRASYRTITSCPADNYQACLGSYAGMIGFDMTPNYVDSNPTGIVVSPWCNCRGSGNMEEECEKFLRDFTENPCLRNAIQAFGNGTDVNMSPKGPSLPATQAPRVEKTPSLPDDLSDSTSLGTSVITTCTSIQEQGLKANNSKELSMCFTELTTNISPGSKKVIKLNSGSSRARLSAALTALPLLMLTLAL", "length": 464 }, "evidence": [ { "id": "45918824", "url": "http://www.informatics.jax.org/homology/45918824", "database": "MGI" } ], "common_name": "Rat" } ], "go_annotation": { "categories": [ { "name": "Cellular Component", "total": 4, "go_terms": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "O00451", "url": "https://www.uniprot.org/uniprot/O00451" } ], "pmid": "" }, { "name": "receptor complex", "id": "GO:0043235", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043235", "evidence": [ { "database": "UniProtKB", "id": "O00451", "url": "https://www.uniprot.org/uniprot/O00451" } ], "pmid": "" }, { "name": "external side of plasma membrane", "id": "GO:0009897", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009897", "evidence": [ { "database": "UniProtKB", "id": "O00451", "url": "https://www.uniprot.org/uniprot/O00451" } ], "pmid": "" }, { "name": "extrinsic component of membrane", "id": "GO:0019898", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019898", "evidence": [ { "database": "UniProtKB", "id": "O00451", "url": "https://www.uniprot.org/uniprot/O00451" } ], "pmid": "" } ] }, { "name": "Molecular Function", "total": 2, "go_terms": [ { "name": "signaling receptor activity", "id": "GO:0038023", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0038023", "evidence": [ { "database": "UniProtKB", "id": "O00451", "url": "https://www.uniprot.org/uniprot/O00451" } ], "pmid": "" }, { "name": "glial cell-derived neurotrophic factor receptor activity", "id": "GO:0016167", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016167", "evidence": [ { "database": "UniProtKB", "id": "O00451", "url": "https://www.uniprot.org/uniprot/O00451" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 2, "go_terms": [ { "name": "transmembrane receptor protein tyrosine kinase signaling pathway", "id": "GO:0007169", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007169", "evidence": [ { "database": "UniProtKB", "id": "O00451", "url": "https://www.uniprot.org/uniprot/O00451" } ], "pmid": "" }, { "name": "nervous system development", "id": "GO:0007399", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007399", "evidence": [ { "database": "UniProtKB", "id": "O00451", "url": "https://www.uniprot.org/uniprot/O00451" } ], "pmid": "" } ] } ] }, "pro_annotation": [ { "name": "GDNF family receptor alpha-2 O-glycosylated 1 (human)", "definition": "A GDNF family receptor alpha-2 (human) that has been O-glycosylated at the residue equivalent to Thr-396 of the amino acid sequence represented by UniProtKB:O00451-1, in which the glycan composition is represented by GlyTouCan:G53434XO. Example: UniProtKB:O00451-1, Thr-396, MOD:00005~GNO:G53434XO. [PRO:DNx, PMID:30459171]", "evidence": [ { "id": "PR:000050639", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000050639" } ] }, { "name": "GDNF family receptor alpha-2 O-glycosylated 2 (human)", "definition": "A GDNF family receptor alpha-2 (human) that has been O-glycosylated at the residue equivalent to Thr-396 of the amino acid sequence represented by UniProtKB:O00451-1, in which the glycan composition is represented by GlyTouCan:G57317CE. Example: UniProtKB:O00451-1, Thr-396, MOD:00005~GNO:G57317CE. [PRO:DNx, PMID:30459171]", "evidence": [ { "id": "PR:000050640", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000050640" } ] }, { "name": "GDNF family receptor alpha-2 O-glycosylated 3 (human)", "definition": "A GDNF family receptor alpha-2 (human) that has been O-glycosylated at the residue equivalent to Thr-401 of the amino acid sequence represented by UniProtKB:O00451-1, in which the glycan composition is represented by GlyTouCan:G43417UB. Example: UniProtKB:O00451-1, Thr-401, MOD:00005~GNO:G43417UB. [PRO:DNx, PMID:30459171]", "evidence": [ { "id": "PR:000050641", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000050641" } ] } ], "site_annotation": [ { "start_pos": 357, "end_pos": 359, "annotation": "n_glycosylation_sequon" }, { "start_pos": 362, "end_pos": 364, "annotation": "n_glycosylation_sequon" }, { "start_pos": 413, "end_pos": 415, "annotation": "n_glycosylation_sequon" }, { "start_pos": 52, "end_pos": 54, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [], "interactions": [], "reactions": [], "reaction_participants": [], "reaction_enzymes": [], "biomarkers": [], "synthesized_glycans": [], "cluster_types": [ { "name": "isoformset.uniprotkb", "label": "Isoforms" }, { "name": "homologset.mgi", "label": "MGI Homologs" }, { "name": "homologset.oma", "label": "OMA Homologs" } ], "sequence_features": { "n_linked_sites": [ 52, 357, 413 ], "o_linked_sites": [ 367, 396, 401 ], "snv_sites": [ 52, 341, 359, 387, 391, 396, 413, 415 ], "glycation_sites": [], "phosphorylation_sites": [], "sequon_annotation_sites": [ { "start_pos": 357, "end_pos": 359 }, { "start_pos": 362, "end_pos": 364 }, { "start_pos": 413, "end_pos": 415 }, { "start_pos": 52, "end_pos": 54 } ] }, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 7 }, { "field": "total_sites", "count": 6 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 3 }, { "field": "o_linked_glycans", "count": 4 }, { "field": "o_linked_glycan_sites", "count": 3 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 1 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 4 }, { "field": "total_sites", "count": 3 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 4 }, { "field": "o_linked_glycan_sites", "count": 3 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 2 }, { "field": "total_sites", "count": 2 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 2 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 10 }, { "field": "total_sites", "count": 8 } ], "sort_fields": [ "start_pos", "end_pos", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 2 }, { "field": "total_sites", "count": 2 } ], "sort_fields": [ "start_pos", "end_pos", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 8 }, { "field": "total_sites", "count": 7 } ], "sort_fields": [ "start_pos", "end_pos", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 109 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }