{ "uniprot_canonical_ac": "P02766-1", "uniprot_ac": "P02766", "uniprot_id": "TTHY_HUMAN", "mass": { "chemical_mass": 15887.0, "monoisotopic_mass": 15887.0 }, "refseq": { "ac": "NP_000362", "name": "transthyretin precursor", "summary": "This gene encodes one of the three prealbumins, which include alpha-1-antitrypsin, transthyretin and orosomucoid. The encoded protein, transthyretin, is a homo-tetrameric carrier protein, which transports thyroid hormones in the plasma and cerebrospinal fluid. It is also involved in the transport of retinol (vitamin A) in the plasma by associating with retinol-binding protein. The protein may also be involved in other intracellular processes including proteolysis, nerve regeneration, autophagy and glucose homeostasis. Mutations in this gene are associated with amyloid deposition, predominantly affecting peripheral nerves or the heart, while a small percentage of the gene mutations are non-amyloidogenic. The mutations are implicated in the etiology of several diseases, including amyloidotic polyneuropathy, euthyroid hyperthyroxinaemia, amyloidotic vitreous opacities, cardiomyopathy, oculoleptomeningeal amyloidosis, meningocerebrovascular amyloidosis and carpal tunnel syndrome. [provided by RefSeq, Aug 2017].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000362" }, "gene_names": [ { "name": "TTR", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P02766", "id": "P02766" }, { "name": "ATTR; CTS; CTS1; HEL111; HsT2651; PALB; TBPA; TTN", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000362", "id": "NP_000362" }, { "name": "PALB", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P02766", "id": "P02766" }, { "name": "TTR", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000362", "id": "NP_000362" } ], "protein_names": [ { "name": "Transthyretin", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "P02766" }, { "name": "ATTR", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P02766" }, { "name": "Prealbumin", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P02766" }, { "name": "TBPA", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P02766" }, { "name": "prealbumin, amyloidosis type I; thyroxine-binding prealbumin; epididymis luminal protein 111", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000362", "id": "NP_000362" }, { "name": "transthyretin precursor", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000362", "id": "NP_000362" } ], "function": [ { "annotation": "A 15-year consolidated overview of data in over 6000 patients from the Transthyretin Amyloidosis Outcomes Survey (THAOS). Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_000362", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000362" }, { "database": "PubMed", "id": "37946256", "url": "https://glygen.org/publication/PubMed/37946256" } ] }, { "annotation": "Characterization of the G-quadruplexes in the transthyretin gene and its role in silencing transthyretin mRNA transcription.", "evidence": [ { "database": "RefSeq", "id": "NP_000362", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000362" }, { "database": "PubMed", "id": "38008337", "url": "https://glygen.org/publication/PubMed/38008337" } ] }, { "annotation": "Common transthyretin-derived amyloid fibril structures in patients with hereditary ATTR amyloidosis. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_000362", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000362" }, { "database": "PubMed", "id": "37993462", "url": "https://glygen.org/publication/PubMed/37993462" } ] }, { "annotation": "Musculoskeletal manifestations associated with transthyretin-mediated (ATTR) amyloidosis: a systematic review. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_000362", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000362" }, { "database": "PubMed", "id": "37740174", "url": "https://glygen.org/publication/PubMed/37740174" } ] }, { "annotation": "Position statement on the non-invasive diagnosis of patients with ATTR pardiac amyloidosis, endorsed by the Hellenic Society of Nuclear Cardiology, for the Nuclear Medicine practitioners.", "evidence": [ { "database": "RefSeq", "id": "NP_000362", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000362" }, { "database": "PubMed", "id": "38085831", "url": "https://glygen.org/publication/PubMed/38085831" } ] }, { "annotation": "This gene encodes one of the three prealbumins, which include alpha-1-antitrypsin, transthyretin and orosomucoid. The encoded protein, transthyretin, is a homo-tetrameric carrier protein, which transports thyroid hormones in the plasma and cerebrospinal fluid. It is also involved in the transport of retinol (vitamin A) in the plasma by associating with retinol-binding protein. The protein may also be involved in other intracellular processes including proteolysis, nerve regeneration, autophagy and glucose homeostasis. Mutations in this gene are associated with amyloid deposition, predominantly affecting peripheral nerves or the heart, while a small percentage of the gene mutations are non-amyloidogenic. The mutations are implicated in the etiology of several diseases, including amyloidotic polyneuropathy, euthyroid hyperthyroxinaemia, amyloidotic vitreous opacities, cardiomyopathy, oculoleptomeningeal amyloidosis, meningocerebrovascular amyloidosis and carpal tunnel syndrome. [provided by RefSeq, Aug 2017].", "evidence": [ { "database": "RefSeq", "id": "NP_000362", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000362" } ] }, { "annotation": "Thyroid hormone-binding protein. Probably transports thyroxine from the bloodstream to the brain.", "evidence": [ { "database": "UniProtKB", "id": "P02766", "url": "https://www.uniprot.org/uniprot/P02766#function" }, { "database": "PubMed", "id": "3714052", "url": "https://glygen.org/publication/PubMed/3714052" }, { "database": "UniProtKB", "id": "A0A087WT59", "url": "https://www.uniprot.org/uniprot/A0A087WT59#function" }, { "database": "UniProtKB", "id": "RU361269", "url": "https://www.uniprot.org/uniprot/RU361269#function" }, { "database": "UniProtKB", "id": "ARBA00025504", "url": "https://www.uniprot.org/uniprot/ARBA00025504#function" } ] } ], "disease": [ { "disease_id": "DOID:0050638", "recommended_name": { "id": "DOID:0050638", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050638", "name": "transthyretin amyloidosis", "description": "An amyloidosis that is characterized by a loss of sensation in the extremities, cardiomyopathy, nephropathy, vitreous opacities, and CNS amyloidosis resulting from abnormal deposits of amyloid protein in the body's organs and tissues and has_material_basis_in autosomal dominant inheritance of mutations in the TTR gene." }, "synonyms": [ { "id": "DOID:0050638", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050638", "name": "paramyloidosis", "description": "" }, { "id": "DOID:0050638", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050638", "name": "Amyloidosis, hereditary, transthyretin-related", "description": "" }, { "id": "DOID:0050638", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050638", "name": "Corino de Andrade's disease", "description": "" }, { "id": "DOID:0050638", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050638", "name": "Familial transthyretin amyloidosis", "description": "" }, { "id": "DOID:0050638", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050638", "name": "TTR amyloidosis", "description": "" }, { "id": "DOID:0050638", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050638", "name": "familial amyloid polyneuropathy", "description": "" }, { "id": "DOID:0050638", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050638", "name": "transthyretin-related hereditary amyloidosis", "description": "" }, { "id": "DOID:0050638", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050638", "name": "ATTR amyloidosis", "description": "" }, { "id": "DOID:0050638", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050638", "name": "ATTRm amyloidosis", "description": "" }, { "id": "MONDO:0007100", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007100", "name": "familial amyloid neuropathy", "description": "Familial amyloid polyneuropathy (FAP) or transthyretin (TTR) amyloid polyneuropathy is a progressive sensorimotor and autonomic neuropathy of adulthood onset. Weight loss and cardiac involvement are frequent; ocular or renal complications may also occur." }, { "id": "MONDO:0007100", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007100", "name": "ATTRV30M-related amyloidosis", "description": "" }, { "id": "MONDO:0007100", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007100", "name": "Corino de Andrade's disease", "description": "" }, { "id": "MONDO:0007100", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007100", "name": "TTR amyloid neuropathy", "description": "" }, { "id": "MONDO:0007100", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007100", "name": "TTR amyloidosis", "description": "" }, { "id": "MONDO:0007100", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007100", "name": "amyloid Neuropathies, familial", "description": "" }, { "id": "MONDO:0007100", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007100", "name": "amyloidosis, hereditary, transthyretin-related", "description": "" }, { "id": "MONDO:0007100", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007100", "name": "familial amyloid neuropathy", "description": "" }, { "id": "MONDO:0007100", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007100", "name": "familial amyloid polyneuropathy", "description": "" }, { "id": "MONDO:0007100", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007100", "name": "familial amyloid polyneuropathy type I", "description": "" }, { "id": "MONDO:0007100", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007100", "name": "familial amyloid polyneuropathy type I (Portuguese-Swedish-Japanese type)", "description": "" }, { "id": "MONDO:0007100", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007100", "name": "familial amyloid polyneuropathy, Portuguese-Swedish-Japanese type", "description": "" }, { "id": "MONDO:0007100", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007100", "name": "familial transthyretin amyloidosis", "description": "" }, { "id": "MONDO:0007100", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007100", "name": "paramyloidosis", "description": "" }, { "id": "MONDO:0007100", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007100", "name": "transthyretin amyloid neuropathy", "description": "" }, { "id": "MONDO:0007100", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007100", "name": "transthyretin amyloid polyneuropathy", "description": "" }, { "id": "MONDO:0007100", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007100", "name": "transthyretin-related hereditary amyloidosis", "description": "" }, { "id": "MONDO:0007100", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007100", "name": "ATTRV30M amyloidosis", "description": "" }, { "id": "MONDO:0007100", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007100", "name": "amyloid cardiomyopathy, transthyretin-related", "description": "" }, { "id": "MONDO:0007100", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007100", "name": "amyloid polyneuropathy, familial", "description": "" }, { "id": "MONDO:0007100", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007100", "name": "amyloidosis transthyretin related", "description": "" }, { "id": "MONDO:0007100", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007100", "name": "amyloidosis, leptomeningeal, transthyretin-related", "description": "" }, { "id": "MONDO:0007100", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007100", "name": "hereditary amyloidosis, transthyretin-related", "description": "" }, { "id": "MONDO:0007100", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007100", "name": "transthyretin amyloidosis", "description": "" }, { "id": "MIM:105210", "resource": "MIM", "url": "https://www.omim.org/entry/105210", "name": "Amyloidosis, transthyretin-related", "description": "Amyloidosis, transthyretin-related" } ], "evidence": [ { "id": "105210", "database": "MIM", "url": "https://www.omim.org/entry/105210" } ] }, { "disease_id": "DOID:0070466", "recommended_name": { "id": "DOID:0070466", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070466", "name": "carpal tunnel syndrome 1", "description": "A carpal tunnel syndrome that has_material_basis_in heterozygous mutation in the TTR gene on chromosome 18q12.1." }, "synonyms": [ { "id": "DOID:0070466", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070466", "name": "CTS1", "description": "" }, { "id": "MONDO:0020730", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0020730", "name": "carpal tunnel syndrome 1", "description": "" }, { "id": "MONDO:0020730", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0020730", "name": "carpal tunnel syndrome", "description": "" }, { "id": "MONDO:0020730", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0020730", "name": "CTS1", "description": "" }, { "id": "MONDO:0020730", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0020730", "name": "amyotrophy, thenar, of carpal origin", "description": "" }, { "id": "MONDO:0020730", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0020730", "name": "carpal tunnel syndrome, familial", "description": "" }, { "id": "MONDO:0020730", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0020730", "name": "CTS", "description": "" }, { "id": "MIM:115430", "resource": "MIM", "url": "https://www.omim.org/entry/115430", "name": "Carpal tunnel syndrome 1", "description": "Carpal tunnel syndrome 1" } ], "evidence": [ { "id": "115430", "database": "MIM", "url": "https://www.omim.org/entry/115430" } ] }, { "disease_id": "DOID:0080219", "recommended_name": { "id": "DOID:0080219", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080219", "name": "dystransthyretinemic hyperthyroxinemia", "description": "A hyperthyroxinemia that is characterized by an increased affinity for thyroxine (T4) by transthyretin in clinically euthyroid individuals and that has_material_basis_in heterozygous mutation in the TTR gene on chromosome 18q12." }, "synonyms": [ { "id": "MONDO:0007785", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007785", "name": "hyperthyroxinemia, dystransthyretinemic", "description": "" }, { "id": "MONDO:0007785", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007785", "name": "dystransthyretinemic hyperthyroxinemia", "description": "" }, { "id": "MONDO:0007785", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007785", "name": "hyperthyroxinemia, dystransthyretinemic", "description": "" }, { "id": "MONDO:0007785", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007785", "name": "DTTRH", "description": "" }, { "id": "MONDO:0007785", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007785", "name": "dystransthyretinemic ethyroidal hyperthyroxinemia", "description": "" }, { "id": "MONDO:0007785", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007785", "name": "euthryroidal hyperthyroxinemia 2", "description": "" }, { "id": "MONDO:0007785", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007785", "name": "hyperthyroxinemia, Dysprealbuminemic", "description": "" }, { "id": "MIM:145680", "resource": "MIM", "url": "https://www.omim.org/entry/145680", "name": "Hyperthyroxinemia, dystransthyretinemic", "description": "Hyperthyroxinemia, dystransthyretinemic" } ], "evidence": [ { "id": "145680", "database": "MIM", "url": "https://www.omim.org/entry/145680" } ] }, { "disease_id": "DOID:12169", "recommended_name": { "id": "DOID:12169", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12169", "name": "carpal tunnel syndrome", "description": "A nerve compression syndrome characterized by pressure on the median nerve at the wrist resulting in numbness, tingling, pain, and muscle weakness in the hand and forearm." }, "synonyms": [ { "id": "DOID:12169", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12169", "name": "CTS - Carpal tunnel syndrome", "description": "" }, { "id": "DOID:12169", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12169", "name": "Median nerve entrapment", "description": "" }, { "id": "DOID:12169", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12169", "name": "carpal tunnel median neuropathy", "description": "" }, { "id": "MONDO:0020730", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0020730", "name": "carpal tunnel syndrome 1", "description": "" }, { "id": "MONDO:0020730", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0020730", "name": "carpal tunnel syndrome", "description": "" }, { "id": "MONDO:0020730", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0020730", "name": "CTS1", "description": "" }, { "id": "MONDO:0020730", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0020730", "name": "amyotrophy, thenar, of carpal origin", "description": "" }, { "id": "MONDO:0020730", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0020730", "name": "carpal tunnel syndrome, familial", "description": "" }, { "id": "MONDO:0020730", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0020730", "name": "CTS", "description": "" }, { "id": "MIM:115430", "resource": "MIM", "url": "https://www.omim.org/entry/115430", "name": "Carpal tunnel syndrome 1", "description": "Carpal tunnel syndrome 1" } ], "evidence": [ { "id": "115430", "database": "MIM", "url": "https://www.omim.org/entry/115430" } ] } ], "snv": [ { "evidence": [ { "id": "rs76591836", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs76591836" }, { "id": "rs76591836", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs76591836" }, { "id": "rs76591836", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs76591836" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 120, "end_pos": 120, "sequence_org": "S", "sequence_mut": "A", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NDS->NDA).", "chr_id": "18", "chr_pos": "31598589", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S120", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs76591836", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs76591836" }, { "id": "rs76591836", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs76591836" }, { "id": "rs76591836", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs76591836" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 120, "end_pos": 120, "sequence_org": "S", "sequence_mut": "P", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NDS->NDP).", "chr_id": "18", "chr_pos": "31598589", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S120", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs121918080", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs121918080" }, { "id": "rs121918080", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs121918080" }, { "id": "rs121918080", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs121918080#frequency_tab" }, { "id": "rs121918080", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs121918080" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 70, "end_pos": 70, "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (SES->NES).", "chr_id": "18", "chr_pos": "31595128", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S70", "disease": [ { "disease_id": "DOID:0050638", "recommended_name": { "id": "DOID:0050638", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050638", "name": "transthyretin amyloidosis", "description": "An amyloidosis that is characterized by a loss of sensation in the extremities, cardiomyopathy, nephropathy, vitreous opacities, and CNS amyloidosis resulting from abnormal deposits of amyloid protein in the body's organs and tissues and has_material_basis_in autosomal dominant inheritance of mutations in the TTR gene." }, "synonyms": [ { "id": "DOID:0050638", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050638", "name": "paramyloidosis", "description": "" }, { "id": "DOID:0050638", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050638", "name": "Amyloidosis, hereditary, transthyretin-related", "description": "" }, { "id": "DOID:0050638", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050638", "name": "Corino de Andrade's disease", "description": "" }, { "id": "DOID:0050638", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050638", "name": "Familial transthyretin amyloidosis", "description": "" }, { "id": "DOID:0050638", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050638", "name": "TTR amyloidosis", "description": "" }, { "id": "DOID:0050638", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050638", "name": "familial amyloid polyneuropathy", "description": "" }, { "id": "DOID:0050638", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050638", "name": "transthyretin-related hereditary amyloidosis", "description": "" }, { "id": "DOID:0050638", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050638", "name": "ATTR amyloidosis", "description": "" }, { "id": "DOID:0050638", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050638", "name": "ATTRm amyloidosis", "description": "" }, { "id": "MONDO:0007100", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007100", "name": "familial amyloid neuropathy", "description": "Familial amyloid polyneuropathy (FAP) or transthyretin (TTR) amyloid polyneuropathy is a progressive sensorimotor and autonomic neuropathy of adulthood onset. Weight loss and cardiac involvement are frequent; ocular or renal complications may also occur." }, { "id": "MONDO:0007100", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007100", "name": "ATTRV30M-related amyloidosis", "description": "" }, { "id": "MONDO:0007100", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007100", "name": "Corino de Andrade's disease", "description": "" }, { "id": "MONDO:0007100", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007100", "name": "TTR amyloid neuropathy", "description": "" }, { "id": "MONDO:0007100", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007100", "name": "TTR amyloidosis", "description": "" }, { "id": "MONDO:0007100", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007100", "name": "amyloid Neuropathies, familial", "description": "" }, { "id": "MONDO:0007100", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007100", "name": "amyloidosis, hereditary, transthyretin-related", "description": "" }, { "id": "MONDO:0007100", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007100", "name": "familial amyloid neuropathy", "description": "" }, { "id": "MONDO:0007100", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007100", "name": "familial amyloid polyneuropathy", "description": "" }, { "id": "MONDO:0007100", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007100", "name": "familial amyloid polyneuropathy type I", "description": "" }, { "id": "MONDO:0007100", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007100", "name": "familial amyloid polyneuropathy type I (Portuguese-Swedish-Japanese type)", "description": "" }, { "id": "MONDO:0007100", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007100", "name": "familial amyloid polyneuropathy, Portuguese-Swedish-Japanese type", "description": "" }, { "id": "MONDO:0007100", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007100", "name": "familial transthyretin amyloidosis", "description": "" }, { "id": "MONDO:0007100", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007100", "name": "paramyloidosis", "description": "" }, { "id": "MONDO:0007100", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007100", "name": "transthyretin amyloid neuropathy", "description": "" }, { "id": "MONDO:0007100", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007100", "name": "transthyretin amyloid polyneuropathy", "description": "" }, { "id": "MONDO:0007100", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007100", "name": "transthyretin-related hereditary amyloidosis", "description": "" }, { "id": "MONDO:0007100", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007100", "name": "ATTRV30M amyloidosis", "description": "" }, { "id": "MONDO:0007100", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007100", "name": "amyloid cardiomyopathy, transthyretin-related", "description": "" }, { "id": "MONDO:0007100", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007100", "name": "amyloid polyneuropathy, familial", "description": "" }, { "id": "MONDO:0007100", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007100", "name": "amyloidosis transthyretin related", "description": "" }, { "id": "MONDO:0007100", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007100", "name": "amyloidosis, leptomeningeal, transthyretin-related", "description": "" }, { "id": "MONDO:0007100", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007100", "name": "hereditary amyloidosis, transthyretin-related", "description": "" }, { "id": "MONDO:0007100", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007100", "name": "transthyretin amyloidosis", "description": "" }, { "id": "MIM:105210", "resource": "MIM", "url": "https://www.omim.org/entry/105210", "name": "Amyloidosis, transthyretin-related", "description": "Amyloidosis, transthyretin-related" } ] }, { "disease_id": "DOID:12169", "recommended_name": { "id": "DOID:12169", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12169", "name": "carpal tunnel syndrome", "description": "A nerve compression syndrome characterized by pressure on the median nerve at the wrist resulting in numbness, tingling, pain, and muscle weakness in the hand and forearm." }, "synonyms": [ { "id": "DOID:12169", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12169", "name": "CTS - Carpal tunnel syndrome", "description": "" }, { "id": "DOID:12169", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12169", "name": "Median nerve entrapment", "description": "" }, { "id": "DOID:12169", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12169", "name": "carpal tunnel median neuropathy", "description": "" }, { "id": "MONDO:0020730", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0020730", "name": "carpal tunnel syndrome 1", "description": "" }, { "id": "MONDO:0020730", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0020730", "name": "carpal tunnel syndrome", "description": "" }, { "id": "MONDO:0020730", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0020730", "name": "CTS1", "description": "" }, { "id": "MONDO:0020730", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0020730", "name": "amyotrophy, thenar, of carpal origin", "description": "" }, { "id": "MONDO:0020730", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0020730", "name": "carpal tunnel syndrome, familial", "description": "" }, { "id": "MONDO:0020730", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0020730", "name": "CTS", "description": "" }, { "id": "MIM:115430", "resource": "MIM", "url": "https://www.omim.org/entry/115430", "name": "Carpal tunnel syndrome 1", "description": "Carpal tunnel syndrome 1" } ] }, { "disease_id": "DOID:0070466", "recommended_name": { "id": "DOID:0070466", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070466", "name": "carpal tunnel syndrome 1", "description": "A carpal tunnel syndrome that has_material_basis_in heterozygous mutation in the TTR gene on chromosome 18q12.1." }, "synonyms": [ { "id": "DOID:0070466", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070466", "name": "CTS1", "description": "" }, { "id": "MONDO:0020730", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0020730", "name": "carpal tunnel syndrome 1", "description": "" }, { "id": "MONDO:0020730", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0020730", "name": "carpal tunnel syndrome", "description": "" }, { "id": "MONDO:0020730", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0020730", "name": "CTS1", "description": "" }, { "id": "MONDO:0020730", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0020730", "name": "amyotrophy, thenar, of carpal origin", "description": "" }, { "id": "MONDO:0020730", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0020730", "name": "carpal tunnel syndrome, familial", "description": "" }, { "id": "MONDO:0020730", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0020730", "name": "CTS", "description": "" }, { "id": "MIM:115430", "resource": "MIM", "url": "https://www.omim.org/entry/115430", "name": "Carpal tunnel syndrome 1", "description": "Carpal tunnel syndrome 1" } ] }, { "disease_id": "DOID:0080219", "recommended_name": { "id": "DOID:0080219", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080219", "name": "dystransthyretinemic hyperthyroxinemia", "description": "A hyperthyroxinemia that is characterized by an increased affinity for thyroxine (T4) by transthyretin in clinically euthyroid individuals and that has_material_basis_in heterozygous mutation in the TTR gene on chromosome 18q12." }, "synonyms": [ { "id": "MONDO:0007785", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007785", "name": "hyperthyroxinemia, dystransthyretinemic", "description": "" }, { "id": "MONDO:0007785", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007785", "name": "dystransthyretinemic hyperthyroxinemia", "description": "" }, { "id": "MONDO:0007785", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007785", "name": "hyperthyroxinemia, dystransthyretinemic", "description": "" }, { "id": "MONDO:0007785", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007785", "name": "DTTRH", "description": "" }, { "id": "MONDO:0007785", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007785", "name": "dystransthyretinemic ethyroidal hyperthyroxinemia", "description": "" }, { "id": "MONDO:0007785", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007785", "name": "euthryroidal hyperthyroxinemia 2", "description": "" }, { "id": "MONDO:0007785", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007785", "name": "hyperthyroxinemia, Dysprealbuminemic", "description": "" }, { "id": "MIM:145680", "resource": "MIM", "url": "https://www.omim.org/entry/145680", "name": "Hyperthyroxinemia, dystransthyretinemic", "description": "Hyperthyroxinemia, dystransthyretinemic" } ] } ], "keywords": [ "ebi", "germline", "disease" ] } ], "mutagenesis": [ { "start_pos": 107, "end_pos": 107, "sequence_org": "F", "sequence_mut": "M", "comment": "Loss of tetramerization; when associated with M-130.", "evidence": [ { "database": "UniProtKB", "id": "P02766", "url": "https://www.uniprot.org/uniprot/P02766" }, { "database": "PubMed", "id": "11560492", "url": "https://glygen.org/publication/PubMed/11560492" } ] }, { "start_pos": 130, "end_pos": 130, "sequence_org": "L", "sequence_mut": "M", "comment": "Loss of tetramerization; when associated with M-107.", "evidence": [ { "database": "UniProtKB", "id": "P02766", "url": "https://www.uniprot.org/uniprot/P02766" }, { "database": "PubMed", "id": "11560492", "url": "https://glygen.org/publication/PubMed/11560492" } ] } ], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "68.19", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000118271", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000118271" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "55.17", "present": "ABSENT", "evidence": [ { "database": "Bgee", "id": "ENSG00000118271", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000118271" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "78.48", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000118271", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000118271" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "84.14", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000118271", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000118271" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "56.21", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000118271", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000118271" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "73.02", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000118271", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000118271" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "69", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000118271", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000118271" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "56.7", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000118271", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000118271" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "55.04", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000118271", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000118271" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "68.6", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000118271", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000118271" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "99.76", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000118271", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000118271" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "59.08", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000118271", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000118271" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "53.1", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000118271", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000118271" } ] } ], "expression_disease": [ { "significant": "Yes", "trend": "up", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "P02766", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P02766" } ], "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": "No", "trend": "up", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "P02766", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P02766" } ], "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": "up", "name": "Urinary bladder cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11054", "evidence": [ { "database": "BioXpress", "id": "P02766", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P02766" } ], "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": "P02766", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P02766" } ], "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": "up", "name": "Lung cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1324", "evidence": [ { "database": "BioXpress", "id": "P02766", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P02766" } ], "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": "up", "name": "Breast cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1612", "evidence": [ { "database": "BioXpress", "id": "P02766", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P02766" } ], "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": "up", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "P02766", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P02766" } ], "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": "P02766", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P02766" } ], "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": "P02766", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P02766" } ], "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": "No", "trend": "up", "name": "Uterine cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:363", "evidence": [ { "database": "BioXpress", "id": "P02766", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P02766" } ], "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ] } ] }, { "significant": "No", "trend": "down", "name": "Esophageal cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:5041", "evidence": [ { "database": "BioXpress", "id": "P02766", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P02766" } ], "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": "P02766", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P02766" } ], "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": "P02766", "url": "https://www.uniprot.org/uniprot/P02766" } ], "common_name": "Human" } ], "gene": [ { "name": "TTR", "url": "https://www.uniprot.org/uniprot/P02766", "locus": { "chromosome": "18", "start_pos": 12258, "end_pos": 5001, "strand": "-", "evidence": [ { "database": "Ensembl Gene", "id": "LRG_416", "url": "https://www.ensembl.org/id/LRG_416" } ] } } ], "crossref": [ { "id": "ENSG00000118271", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000118271", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "cd05821", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd05821", "database": "CDD", "categories": [ "Protein Classification" ] }, { "id": "CHEMBL3194", "url": "https://www.ebi.ac.uk/chembldb/target/inspect/CHEMBL3194", "database": "ChEMBL", "categories": [ "Other" ] }, { "id": "TTR", "url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=TTR", "database": "GeneCards", "categories": [ "Gene Annotation", "Organism-specific" ] }, { "id": "7276", "url": "https://www.ncbi.nlm.nih.gov/gene/7276", "database": "GeneID", "categories": [ "Genome Annotation" ] }, { "id": "12405", "url": "https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=12405", "database": "HGNC", "categories": [ "Organism-specific" ] }, { "id": "P02766", "url": "https://www.ebi.ac.uk/intact/interactors/id:P02766*", "database": "IntAct", "categories": [ "Other" ] }, { "id": "IPR000895", "url": "https://www.ebi.ac.uk/interpro/entry/IPR000895", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR023416", "url": "https://www.ebi.ac.uk/interpro/entry/IPR023416", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR023418", "url": "https://www.ebi.ac.uk/interpro/entry/IPR023418", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR023419", "url": "https://www.ebi.ac.uk/interpro/entry/IPR023419", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR036817", "url": "https://www.ebi.ac.uk/interpro/entry/IPR036817", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "hsa:7276", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:7276", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "105210", "url": "http://www.omim.org/entry/105210", "database": "MIM", "categories": [ "Other" ] }, { "id": "115430", "url": "http://www.omim.org/entry/115430", "database": "MIM", "categories": [ "Other" ] }, { "id": "145680", "url": "http://www.omim.org/entry/145680", "database": "MIM", "categories": [ "Other" ] }, { "id": "176300", "url": "http://www.omim.org/entry/176300", "database": "MIM", "categories": [ "Other" ] }, { "id": "NX_P02766", "url": "https://www.nextprot.org/entry/NX_P02766", "database": "neXtProt", "categories": [ "Protein", "Organism-specific" ] }, { "id": "TWEPFAT", "url": "https://omabrowser.org/oma/group/TWEPFAT/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "5352684at2759", "url": "http://www.orthodb.org/?query=5352684at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR10395", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR10395", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR10395:SF12", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR10395:SF12", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "1BM7", "url": "https://www.rcsb.org/structure/1BM7", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "1BMZ", "url": "https://www.rcsb.org/structure/1BMZ", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "1BZ8", "url": "https://www.rcsb.org/structure/1BZ8", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "1BZD", "url": "https://www.rcsb.org/structure/1BZD", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "1BZE", "url": "https://www.rcsb.org/structure/1BZE", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "1DVQ", "url": "https://www.rcsb.org/structure/1DVQ", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "1DVS", "url": "https://www.rcsb.org/structure/1DVS", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "1DVT", "url": "https://www.rcsb.org/structure/1DVT", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "1DVU", "url": "https://www.rcsb.org/structure/1DVU", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "1DVX", "url": "https://www.rcsb.org/structure/1DVX", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "1DVY", "url": "https://www.rcsb.org/structure/1DVY", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "1DVZ", "url": "https://www.rcsb.org/structure/1DVZ", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "1E3F", "url": "https://www.rcsb.org/structure/1E3F", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "1E4H", "url": "https://www.rcsb.org/structure/1E4H", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "1E5A", "url": "https://www.rcsb.org/structure/1E5A", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "1ETA", "url": "https://www.rcsb.org/structure/1ETA", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "1ETB", "url": "https://www.rcsb.org/structure/1ETB", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "1F41", "url": "https://www.rcsb.org/structure/1F41", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "1F86", "url": "https://www.rcsb.org/structure/1F86", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "1FH2", "url": "https://www.rcsb.org/structure/1FH2", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "1FHN", "url": "https://www.rcsb.org/structure/1FHN", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "1G1O", "url": "https://www.rcsb.org/structure/1G1O", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "1GKO", "url": "https://www.rcsb.org/structure/1GKO", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "1ICT", "url": "https://www.rcsb.org/structure/1ICT", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "1III", "url": "https://www.rcsb.org/structure/1III", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "1IIK", "url": "https://www.rcsb.org/structure/1IIK", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "1IJN", "url": "https://www.rcsb.org/structure/1IJN", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "1QAB", "url": "https://www.rcsb.org/structure/1QAB", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "1QWH", "url": "https://www.rcsb.org/structure/1QWH", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "1RLB", "url": "https://www.rcsb.org/structure/1RLB", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "1SOK", "url": "https://www.rcsb.org/structure/1SOK", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "1SOQ", "url": "https://www.rcsb.org/structure/1SOQ", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "1THA", "url": "https://www.rcsb.org/structure/1THA", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "1THC", "url": "https://www.rcsb.org/structure/1THC", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "1TLM", "url": "https://www.rcsb.org/structure/1TLM", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "1TSH", "url": "https://www.rcsb.org/structure/1TSH", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "1TT6", "url": "https://www.rcsb.org/structure/1TT6", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "1TTA", "url": "https://www.rcsb.org/structure/1TTA", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "1TTB", "url": "https://www.rcsb.org/structure/1TTB", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "1TTC", "url": "https://www.rcsb.org/structure/1TTC", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "1TTR", "url": "https://www.rcsb.org/structure/1TTR", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "1TYR", "url": "https://www.rcsb.org/structure/1TYR", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "1TZ8", "url": "https://www.rcsb.org/structure/1TZ8", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "1U21", "url": "https://www.rcsb.org/structure/1U21", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "1X7S", "url": "https://www.rcsb.org/structure/1X7S", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "1X7T", "url": "https://www.rcsb.org/structure/1X7T", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "1Y1D", "url": "https://www.rcsb.org/structure/1Y1D", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "1Z7J", "url": "https://www.rcsb.org/structure/1Z7J", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "1ZCR", "url": "https://www.rcsb.org/structure/1ZCR", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "1ZD6", "url": "https://www.rcsb.org/structure/1ZD6", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "2B14", "url": "https://www.rcsb.org/structure/2B14", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "2B15", "url": "https://www.rcsb.org/structure/2B15", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "2B16", "url": "https://www.rcsb.org/structure/2B16", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "2B77", "url": "https://www.rcsb.org/structure/2B77", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "2B9A", "url": "https://www.rcsb.org/structure/2B9A", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "2F7I", "url": "https://www.rcsb.org/structure/2F7I", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "2F8I", "url": "https://www.rcsb.org/structure/2F8I", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "2FBR", "url": "https://www.rcsb.org/structure/2FBR", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "2FLM", "url": "https://www.rcsb.org/structure/2FLM", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "2G3X", "url": "https://www.rcsb.org/structure/2G3X", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "2G3Z", "url": "https://www.rcsb.org/structure/2G3Z", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "2G4E", "url": "https://www.rcsb.org/structure/2G4E", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "2G4G", "url": "https://www.rcsb.org/structure/2G4G", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "2G5U", "url": "https://www.rcsb.org/structure/2G5U", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "2G9K", "url": "https://www.rcsb.org/structure/2G9K", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "2GAB", "url": "https://www.rcsb.org/structure/2GAB", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "2H4E", "url": "https://www.rcsb.org/structure/2H4E", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "2M5N", "url": "https://www.rcsb.org/structure/2M5N", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "2NBO", "url": "https://www.rcsb.org/structure/2NBO", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "2NBP", "url": "https://www.rcsb.org/structure/2NBP", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "2NOY", "url": "https://www.rcsb.org/structure/2NOY", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "2PAB", "url": "https://www.rcsb.org/structure/2PAB", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "2QEL", "url": "https://www.rcsb.org/structure/2QEL", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "2QGB", "url": "https://www.rcsb.org/structure/2QGB", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "2QGC", "url": "https://www.rcsb.org/structure/2QGC", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "2QGD", "url": "https://www.rcsb.org/structure/2QGD", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "2QGE", "url": "https://www.rcsb.org/structure/2QGE", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "2ROX", "url": "https://www.rcsb.org/structure/2ROX", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "2ROY", "url": "https://www.rcsb.org/structure/2ROY", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "2TRH", "url": "https://www.rcsb.org/structure/2TRH", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "2TRY", "url": "https://www.rcsb.org/structure/2TRY", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "2WQA", "url": "https://www.rcsb.org/structure/2WQA", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "3A4D", "url": "https://www.rcsb.org/structure/3A4D", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "3A4E", "url": "https://www.rcsb.org/structure/3A4E", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "3A4F", "url": "https://www.rcsb.org/structure/3A4F", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "3B56", "url": "https://www.rcsb.org/structure/3B56", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "3BSZ", "url": "https://www.rcsb.org/structure/3BSZ", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "3BT0", "url": "https://www.rcsb.org/structure/3BT0", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "3CBR", "url": "https://www.rcsb.org/structure/3CBR", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "3CFM", "url": "https://www.rcsb.org/structure/3CFM", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "3CFN", "url": "https://www.rcsb.org/structure/3CFN", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "3CFQ", "url": "https://www.rcsb.org/structure/3CFQ", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "3CFT", "url": "https://www.rcsb.org/structure/3CFT", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "3CN0", "url": "https://www.rcsb.org/structure/3CN0", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "3CN1", "url": "https://www.rcsb.org/structure/3CN1", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "3CN2", "url": "https://www.rcsb.org/structure/3CN2", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "3CN3", "url": "https://www.rcsb.org/structure/3CN3", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "3CN4", "url": "https://www.rcsb.org/structure/3CN4", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "3CXF", "url": "https://www.rcsb.org/structure/3CXF", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "3D2T", "url": "https://www.rcsb.org/structure/3D2T", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "3D7P", "url": "https://www.rcsb.org/structure/3D7P", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "3DGD", "url": "https://www.rcsb.org/structure/3DGD", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "3DID", "url": "https://www.rcsb.org/structure/3DID", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "3DJR", "url": "https://www.rcsb.org/structure/3DJR", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "3DJS", "url": "https://www.rcsb.org/structure/3DJS", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "3DJT", "url": "https://www.rcsb.org/structure/3DJT", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "3DJZ", "url": "https://www.rcsb.org/structure/3DJZ", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "3DK0", "url": "https://www.rcsb.org/structure/3DK0", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "3DK2", "url": "https://www.rcsb.org/structure/3DK2", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "3DO4", "url": "https://www.rcsb.org/structure/3DO4", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "3ESN", "url": "https://www.rcsb.org/structure/3ESN", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "3ESO", "url": "https://www.rcsb.org/structure/3ESO", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "3ESP", "url": "https://www.rcsb.org/structure/3ESP", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "3FC8", "url": "https://www.rcsb.org/structure/3FC8", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "3FCB", "url": "https://www.rcsb.org/structure/3FCB", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "3GLZ", "url": "https://www.rcsb.org/structure/3GLZ", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "3GPS", "url": "https://www.rcsb.org/structure/3GPS", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "3GRB", "url": "https://www.rcsb.org/structure/3GRB", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "3GRG", "url": "https://www.rcsb.org/structure/3GRG", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "3GS0", "url": "https://www.rcsb.org/structure/3GS0", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "3GS4", "url": "https://www.rcsb.org/structure/3GS4", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "3GS7", "url": "https://www.rcsb.org/structure/3GS7", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "3HJ0", "url": "https://www.rcsb.org/structure/3HJ0", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "3I9A", "url": "https://www.rcsb.org/structure/3I9A", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "3I9I", "url": "https://www.rcsb.org/structure/3I9I", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "3I9P", "url": "https://www.rcsb.org/structure/3I9P", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "3IMR", "url": "https://www.rcsb.org/structure/3IMR", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "3IMS", "url": "https://www.rcsb.org/structure/3IMS", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "3IMT", "url": "https://www.rcsb.org/structure/3IMT", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "3IMU", "url": "https://www.rcsb.org/structure/3IMU", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "3IMV", "url": "https://www.rcsb.org/structure/3IMV", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "3IMW", "url": "https://www.rcsb.org/structure/3IMW", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "3IPB", "url": "https://www.rcsb.org/structure/3IPB", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "3IPE", "url": "https://www.rcsb.org/structure/3IPE", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "3KGS", "url": "https://www.rcsb.org/structure/3KGS", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "3KGT", "url": "https://www.rcsb.org/structure/3KGT", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "3KGU", "url": "https://www.rcsb.org/structure/3KGU", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "3M1O", "url": "https://www.rcsb.org/structure/3M1O", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "3NEE", "url": "https://www.rcsb.org/structure/3NEE", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "3NEO", "url": "https://www.rcsb.org/structure/3NEO", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "3NES", "url": "https://www.rcsb.org/structure/3NES", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "3NEX", "url": "https://www.rcsb.org/structure/3NEX", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "3NG5", "url": "https://www.rcsb.org/structure/3NG5", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "3OZK", "url": "https://www.rcsb.org/structure/3OZK", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "3OZL", "url": "https://www.rcsb.org/structure/3OZL", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "3P3R", "url": "https://www.rcsb.org/structure/3P3R", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "3P3S", "url": "https://www.rcsb.org/structure/3P3S", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "3P3T", "url": "https://www.rcsb.org/structure/3P3T", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "3P3U", "url": "https://www.rcsb.org/structure/3P3U", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "3SSG", "url": "https://www.rcsb.org/structure/3SSG", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "3TCT", "url": "https://www.rcsb.org/structure/3TCT", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "3TFB", "url": "https://www.rcsb.org/structure/3TFB", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "3U2I", "url": "https://www.rcsb.org/structure/3U2I", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "3U2J", "url": "https://www.rcsb.org/structure/3U2J", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "3W3B", "url": "https://www.rcsb.org/structure/3W3B", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "4ABQ", "url": "https://www.rcsb.org/structure/4ABQ", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "4ABU", "url": "https://www.rcsb.org/structure/4ABU", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "4ABV", "url": "https://www.rcsb.org/structure/4ABV", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "4ABW", "url": "https://www.rcsb.org/structure/4ABW", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "4AC2", "url": "https://www.rcsb.org/structure/4AC2", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "4AC4", "url": "https://www.rcsb.org/structure/4AC4", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "4ACT", "url": "https://www.rcsb.org/structure/4ACT", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "4ANK", "url": "https://www.rcsb.org/structure/4ANK", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "4D7B", "url": "https://www.rcsb.org/structure/4D7B", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "4DER", "url": "https://www.rcsb.org/structure/4DER", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "4DES", "url": "https://www.rcsb.org/structure/4DES", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "4DET", "url": "https://www.rcsb.org/structure/4DET", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "4DEU", "url": "https://www.rcsb.org/structure/4DEU", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "4DEW", "url": "https://www.rcsb.org/structure/4DEW", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "4FI6", "url": "https://www.rcsb.org/structure/4FI6", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "4FI7", "url": "https://www.rcsb.org/structure/4FI7", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "4FI8", "url": "https://www.rcsb.org/structure/4FI8", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "4HIQ", "url": "https://www.rcsb.org/structure/4HIQ", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "4HIS", "url": "https://www.rcsb.org/structure/4HIS", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "4HJS", "url": "https://www.rcsb.org/structure/4HJS", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "4HJT", "url": "https://www.rcsb.org/structure/4HJT", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "4HJU", "url": "https://www.rcsb.org/structure/4HJU", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "4I85", "url": "https://www.rcsb.org/structure/4I85", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "4I87", "url": "https://www.rcsb.org/structure/4I87", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "4I89", "url": "https://www.rcsb.org/structure/4I89", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "4IIZ", "url": "https://www.rcsb.org/structure/4IIZ", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "4IK6", "url": "https://www.rcsb.org/structure/4IK6", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "4IK7", "url": "https://www.rcsb.org/structure/4IK7", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "4IKI", "url": "https://www.rcsb.org/structure/4IKI", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "4IKJ", "url": "https://www.rcsb.org/structure/4IKJ", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "4IKK", "url": "https://www.rcsb.org/structure/4IKK", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "4IKL", "url": "https://www.rcsb.org/structure/4IKL", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "4KY2", "url": "https://www.rcsb.org/structure/4KY2", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "4L1S", "url": "https://www.rcsb.org/structure/4L1S", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "4L1T", "url": "https://www.rcsb.org/structure/4L1T", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "4MAS", "url": "https://www.rcsb.org/structure/4MAS", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "4MRB", "url": "https://www.rcsb.org/structure/4MRB", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "4MRC", "url": "https://www.rcsb.org/structure/4MRC", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "4N85", "url": "https://www.rcsb.org/structure/4N85", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "4N86", "url": "https://www.rcsb.org/structure/4N86", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "4N87", "url": "https://www.rcsb.org/structure/4N87", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "4PM1", "url": "https://www.rcsb.org/structure/4PM1", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "4PME", "url": "https://www.rcsb.org/structure/4PME", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "4PMF", "url": "https://www.rcsb.org/structure/4PMF", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "4PVL", "url": "https://www.rcsb.org/structure/4PVL", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "4PWE", "url": "https://www.rcsb.org/structure/4PWE", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "4PWF", "url": "https://www.rcsb.org/structure/4PWF", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "4PWG", "url": "https://www.rcsb.org/structure/4PWG", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "4PWH", "url": "https://www.rcsb.org/structure/4PWH", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "4PWI", "url": "https://www.rcsb.org/structure/4PWI", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "4PWJ", "url": "https://www.rcsb.org/structure/4PWJ", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "4PWK", "url": "https://www.rcsb.org/structure/4PWK", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "4QRF", "url": "https://www.rcsb.org/structure/4QRF", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "4QXV", "url": "https://www.rcsb.org/structure/4QXV", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "4QYA", "url": "https://www.rcsb.org/structure/4QYA", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "4TKW", "url": "https://www.rcsb.org/structure/4TKW", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "4TL4", "url": "https://www.rcsb.org/structure/4TL4", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "4TL5", "url": "https://www.rcsb.org/structure/4TL5", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "4TLK", "url": "https://www.rcsb.org/structure/4TLK", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "4TLS", "url": "https://www.rcsb.org/structure/4TLS", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "4TLT", "url": "https://www.rcsb.org/structure/4TLT", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "4TLU", "url": "https://www.rcsb.org/structure/4TLU", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "4TM9", "url": "https://www.rcsb.org/structure/4TM9", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "4TNE", "url": "https://www.rcsb.org/structure/4TNE", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "4TNF", "url": "https://www.rcsb.org/structure/4TNF", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "4TNG", "url": "https://www.rcsb.org/structure/4TNG", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "4TQ8", "url": "https://www.rcsb.org/structure/4TQ8", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "4TQH", "url": "https://www.rcsb.org/structure/4TQH", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "4TQI", "url": "https://www.rcsb.org/structure/4TQI", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "4TQP", "url": "https://www.rcsb.org/structure/4TQP", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "4WNJ", "url": "https://www.rcsb.org/structure/4WNJ", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "4WNS", "url": "https://www.rcsb.org/structure/4WNS", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "4WO0", "url": "https://www.rcsb.org/structure/4WO0", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "4Y9B", "url": "https://www.rcsb.org/structure/4Y9B", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "4Y9C", "url": "https://www.rcsb.org/structure/4Y9C", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "4Y9E", "url": "https://www.rcsb.org/structure/4Y9E", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "4Y9F", "url": "https://www.rcsb.org/structure/4Y9F", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "4Y9G", "url": "https://www.rcsb.org/structure/4Y9G", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "4YDM", "url": "https://www.rcsb.org/structure/4YDM", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "4YDN", "url": "https://www.rcsb.org/structure/4YDN", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "5A6I", "url": "https://www.rcsb.org/structure/5A6I", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "5AKS", "url": "https://www.rcsb.org/structure/5AKS", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "5AKT", "url": "https://www.rcsb.org/structure/5AKT", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "5AKV", "url": "https://www.rcsb.org/structure/5AKV", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "5AL0", "url": "https://www.rcsb.org/structure/5AL0", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "5AL8", "url": "https://www.rcsb.org/structure/5AL8", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "5AYT", "url": "https://www.rcsb.org/structure/5AYT", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "5BOJ", "url": "https://www.rcsb.org/structure/5BOJ", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "5CLX", "url": "https://www.rcsb.org/structure/5CLX", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "5CLY", "url": "https://www.rcsb.org/structure/5CLY", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "5CLZ", "url": "https://www.rcsb.org/structure/5CLZ", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "5CM1", "url": "https://www.rcsb.org/structure/5CM1", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "5CN3", "url": "https://www.rcsb.org/structure/5CN3", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "5CNH", "url": "https://www.rcsb.org/structure/5CNH", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "5CR1", "url": "https://www.rcsb.org/structure/5CR1", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "5DEJ", "url": "https://www.rcsb.org/structure/5DEJ", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "5DWP", "url": "https://www.rcsb.org/structure/5DWP", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "5E23", "url": "https://www.rcsb.org/structure/5E23", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "5E4A", "url": "https://www.rcsb.org/structure/5E4A", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "5E4O", "url": "https://www.rcsb.org/structure/5E4O", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "5EN3", "url": "https://www.rcsb.org/structure/5EN3", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "5EZP", "url": "https://www.rcsb.org/structure/5EZP", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "5FO2", "url": "https://www.rcsb.org/structure/5FO2", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "5FW6", "url": "https://www.rcsb.org/structure/5FW6", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "5FW7", "url": "https://www.rcsb.org/structure/5FW7", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "5FW8", "url": "https://www.rcsb.org/structure/5FW8", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "5H0V", "url": "https://www.rcsb.org/structure/5H0V", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "5H0W", "url": "https://www.rcsb.org/structure/5H0W", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "5H0X", "url": "https://www.rcsb.org/structure/5H0X", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "5H0Y", "url": "https://www.rcsb.org/structure/5H0Y", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "5H0Z", "url": "https://www.rcsb.org/structure/5H0Z", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "5HJG", "url": "https://www.rcsb.org/structure/5HJG", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "5IHH", "url": "https://www.rcsb.org/structure/5IHH", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "5JID", "url": "https://www.rcsb.org/structure/5JID", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "5JIM", "url": "https://www.rcsb.org/structure/5JIM", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "5JIQ", "url": "https://www.rcsb.org/structure/5JIQ", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "5K1J", "url": "https://www.rcsb.org/structure/5K1J", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "5K1N", "url": "https://www.rcsb.org/structure/5K1N", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "5L4F", "url": "https://www.rcsb.org/structure/5L4F", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "5L4I", "url": "https://www.rcsb.org/structure/5L4I", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "5L4J", "url": "https://www.rcsb.org/structure/5L4J", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "5L4M", "url": "https://www.rcsb.org/structure/5L4M", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "5LLL", "url": "https://www.rcsb.org/structure/5LLL", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "5LLV", "url": "https://www.rcsb.org/structure/5LLV", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "5N5Q", "url": "https://www.rcsb.org/structure/5N5Q", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "5N62", "url": "https://www.rcsb.org/structure/5N62", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "5N7C", "url": "https://www.rcsb.org/structure/5N7C", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "5OQ0", "url": "https://www.rcsb.org/structure/5OQ0", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "5TTR", "url": "https://www.rcsb.org/structure/5TTR", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "5TZL", "url": "https://www.rcsb.org/structure/5TZL", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "5U48", "url": "https://www.rcsb.org/structure/5U48", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "5U49", "url": "https://www.rcsb.org/structure/5U49", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "5U4A", "url": "https://www.rcsb.org/structure/5U4A", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "5U4B", "url": "https://www.rcsb.org/structure/5U4B", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "5U4C", "url": "https://www.rcsb.org/structure/5U4C", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "5U4D", "url": "https://www.rcsb.org/structure/5U4D", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "5U4E", "url": "https://www.rcsb.org/structure/5U4E", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "5U4F", "url": "https://www.rcsb.org/structure/5U4F", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "5U4G", "url": "https://www.rcsb.org/structure/5U4G", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "6D0W", "url": "https://www.rcsb.org/structure/6D0W", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "6E6Z", "url": "https://www.rcsb.org/structure/6E6Z", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "6E70", "url": "https://www.rcsb.org/structure/6E70", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "6E71", "url": "https://www.rcsb.org/structure/6E71", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "6E72", "url": "https://www.rcsb.org/structure/6E72", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "6E73", "url": "https://www.rcsb.org/structure/6E73", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "6E74", "url": "https://www.rcsb.org/structure/6E74", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "6E75", "url": "https://www.rcsb.org/structure/6E75", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "6E76", "url": "https://www.rcsb.org/structure/6E76", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "6E77", "url": "https://www.rcsb.org/structure/6E77", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "6E78", "url": "https://www.rcsb.org/structure/6E78", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "6EOY", "url": "https://www.rcsb.org/structure/6EOY", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "6EP1", "url": "https://www.rcsb.org/structure/6EP1", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "6FWD", "url": "https://www.rcsb.org/structure/6FWD", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "6FXU", "url": "https://www.rcsb.org/structure/6FXU", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "6FZL", "url": "https://www.rcsb.org/structure/6FZL", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "6GR7", "url": "https://www.rcsb.org/structure/6GR7", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "6GRP", "url": "https://www.rcsb.org/structure/6GRP", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "6IMX", "url": "https://www.rcsb.org/structure/6IMX", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "6IMY", "url": "https://www.rcsb.org/structure/6IMY", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "6KGB", "url": "https://www.rcsb.org/structure/6KGB", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "6R66", "url": "https://www.rcsb.org/structure/6R66", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "6R67", "url": "https://www.rcsb.org/structure/6R67", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "6R68", "url": "https://www.rcsb.org/structure/6R68", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "6R6I", "url": "https://www.rcsb.org/structure/6R6I", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "6SDZ", "url": "https://www.rcsb.org/structure/6SDZ", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "6SUG", "url": "https://www.rcsb.org/structure/6SUG", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "6SUH", "url": "https://www.rcsb.org/structure/6SUH", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "6TI9", "url": "https://www.rcsb.org/structure/6TI9", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "6TJN", "url": "https://www.rcsb.org/structure/6TJN", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "6TXV", "url": "https://www.rcsb.org/structure/6TXV", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "6TXW", "url": "https://www.rcsb.org/structure/6TXW", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "6U0Q", "url": "https://www.rcsb.org/structure/6U0Q", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "6XTK", "url": "https://www.rcsb.org/structure/6XTK", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "7ACU", "url": "https://www.rcsb.org/structure/7ACU", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "7DT3", "url": "https://www.rcsb.org/structure/7DT3", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "7DT5", "url": "https://www.rcsb.org/structure/7DT5", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "7DT6", "url": "https://www.rcsb.org/structure/7DT6", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "7DT8", "url": "https://www.rcsb.org/structure/7DT8", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "7EJQ", "url": "https://www.rcsb.org/structure/7EJQ", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "7EJR", "url": "https://www.rcsb.org/structure/7EJR", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "7ERH", "url": "https://www.rcsb.org/structure/7ERH", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "7ERI", "url": "https://www.rcsb.org/structure/7ERI", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "7ERJ", "url": "https://www.rcsb.org/structure/7ERJ", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "7ERK", "url": "https://www.rcsb.org/structure/7ERK", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "7OB4", "url": "https://www.rcsb.org/structure/7OB4", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "7Q3I", "url": "https://www.rcsb.org/structure/7Q3I", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "7Q9L", "url": "https://www.rcsb.org/structure/7Q9L", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "7Q9N", "url": "https://www.rcsb.org/structure/7Q9N", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "7Q9O", "url": "https://www.rcsb.org/structure/7Q9O", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "7QC5", "url": "https://www.rcsb.org/structure/7QC5", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "7THA", "url": "https://www.rcsb.org/structure/7THA", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "7W9Q", "url": "https://www.rcsb.org/structure/7W9Q", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "7W9R", "url": "https://www.rcsb.org/structure/7W9R", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "7WL6", "url": "https://www.rcsb.org/structure/7WL6", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "7Y1I", "url": "https://www.rcsb.org/structure/7Y1I", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "7Y6J", "url": "https://www.rcsb.org/structure/7Y6J", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "7YBR", "url": "https://www.rcsb.org/structure/7YBR", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "7YCQ", "url": "https://www.rcsb.org/structure/7YCQ", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "7Z60", "url": "https://www.rcsb.org/structure/7Z60", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "8ADE", "url": "https://www.rcsb.org/structure/8ADE", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "8AWI", "url": "https://www.rcsb.org/structure/8AWI", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "8AWW", "url": "https://www.rcsb.org/structure/8AWW", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "8E7D", "url": "https://www.rcsb.org/structure/8E7D", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "8E7E", "url": "https://www.rcsb.org/structure/8E7E", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "8E7H", "url": "https://www.rcsb.org/structure/8E7H", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "8E7I", "url": "https://www.rcsb.org/structure/8E7I", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "8E7J", "url": "https://www.rcsb.org/structure/8E7J", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "8HY4", "url": "https://www.rcsb.org/structure/8HY4", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "8IG1", "url": "https://www.rcsb.org/structure/8IG1", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "8II1", "url": "https://www.rcsb.org/structure/8II1", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "8II2", "url": "https://www.rcsb.org/structure/8II2", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "8II3", "url": "https://www.rcsb.org/structure/8II3", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "8II4", "url": "https://www.rcsb.org/structure/8II4", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "PF00576", "url": "http://pfam.xfam.org/family/PF00576", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "P02766", "url": "https://pharos.nih.gov/targets/P02766", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR_P02766", "url": "http://purl.obolibrary.org/obo/PR_P02766", "database": "PRO", "categories": [ "Protein" ] }, { "id": "R-HSA-2453864", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2453864", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-2453902", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2453902", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-3000171", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3000171", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-6798695", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6798695", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-975634", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-975634", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-977225", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-977225", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "NP_000362", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000362", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "A0A087WT59", "url": "https://www.uniprot.org/uniprot/A0A087WT59", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A087WT59-1", "url": "https://www.uniprot.org/uniprot/A0A087WT59-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A087WV45", "url": "https://www.uniprot.org/uniprot/A0A087WV45", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A087WV45-1", "url": "https://www.uniprot.org/uniprot/A0A087WV45-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P02766", "url": "https://www.uniprot.org/uniprot/P02766", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P02766-1", "url": "https://www.uniprot.org/uniprot/P02766-1", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MASHRLLLLCLAGLVFVSEAGPTGTGESKCPLMVKVLDAVRGSPAINVAVHVFRKAADDTWEPFASGKTSESGELHGLTTEEEFVEGIYKVEIDTKSYWKALGISPFHEHAEVVFTANDSGPRRYTIAALLSPYSYSTTAVVTNPKE", "length": 147, "header": "sp|P02766-1|TTHY_HUMAN Isoform 1 of Transthyretin OS=Homo sapiens OX=9606 GN=TTR PE=1 SV=1 CANONICAL=P02766-1" }, "isoforms": [ { "isoform_ac": "A0A087WT59-1", "url": "", "sequence": { "sequence": "MVKVLDAVRGSPAINVAVHVFRKAADDTWEPFASGKTSESGELHGLTTEEEFVEGIYKVEIDTKSYWKALGISPFHEHAEVVFTANDSGPRRYTIAALLSPYSYSTTAVVTNPKE", "length": 115, "header": "tr|A0A087WT59-1|A0A087WT59_HUMAN Computationally mapped isoform of Transthyretin OS=Homo sapiens OX=9606 GN=TTR PE=1 SV=2 CANONICAL=P02766-1" }, "locus": { "chromosome": "18", "start_pos": 31598672, "end_pos": 31592923, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000610404.5", "url": "https://www.ensembl.org/id/ENST00000610404.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000477599.2", "url": "https://www.ensembl.org/id/ENSP00000477599.2" } ] } }, { "isoform_ac": "A0A087WV45-1", "url": "", "sequence": { "sequence": "MASHRLLLLCLAGLVFVSEAGPT", "length": 23, "header": "tr|A0A087WV45-1|A0A087WV45_HUMAN Computationally mapped isoform of Transthyretin OS=Homo sapiens OX=9606 GN=TTR PE=1 SV=2 CANONICAL=P02766-1" }, "locus": { "chromosome": "18", "start_pos": 31591971, "end_pos": 31591903, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000676075.1", "url": "https://www.ensembl.org/id/ENST00000676075.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000502027.1", "url": "https://www.ensembl.org/id/ENSP00000502027.1" } ] } }, { "isoform_ac": "P02766-1", "url": "", "sequence": { "sequence": "MASHRLLLLCLAGLVFVSEAGPTGTGESKCPLMVKVLDAVRGSPAINVAVHVFRKAADDTWEPFASGKTSESGELHGLTTEEEFVEGIYKVEIDTKSYWKALGISPFHEHAEVVFTANDSGPRRYTIAALLSPYSYSTTAVVTNPKE", "length": 147, "header": "sp|P02766-1|TTHY_HUMAN Isoform 1 of Transthyretin OS=Homo sapiens OX=9606 GN=TTR PE=1 SV=1 CANONICAL=P02766-1" }, "locus": { "chromosome": "18", "start_pos": 31598672, "end_pos": 31591903, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000649620.1", "url": "https://www.ensembl.org/id/ENST00000649620.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000497927.1", "url": "https://www.ensembl.org/id/ENSP00000497927.1" } ] } } ], "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 118, "start_aa": "Asn", "end_pos": 118, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn118", "evidence": [ { "id": "P02766", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P02766#ptm_processing" }, { "id": "19167329", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/19167329" }, { "id": "16335952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/16335952" } ] } ], "phosphorylation": [ { "start_pos": 72, "end_pos": 72, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "P02766", "url": "https://www.uniprot.org/uniprot/P02766" } ], "site_lbl": "Ser72" } ], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_reported" ], "publication": [ { "title": "A novel variant of transthyretin (Glu42Asp) associated with sporadic late-onset cardiac amyloidosis.", "journal": "Amyloid : the international journal of experimental and clinical investigation : the official journal of the International Society of Amyloidosis", "date": "1998", "authors": "Dupuy O, Bletry O, Blanc AS, Droz D, Viemont M, Delpech M, Grateau G", "evidence": [ { "database": "UniProtKB", "id": "P02766", "url": "https://www.uniprot.org/uniprot/P02766" } ], "reference": [ { "type": "PubMed", "id": "10036587", "url": "https://glygen.org/publication/PubMed/10036587" } ] }, { "title": "The structure of human retinol-binding protein (RBP) with its carrier protein transthyretin reveals an interaction with the carboxy terminus of RBP.", "journal": "Biochemistry", "date": "1999", "authors": "Naylor HM, Newcomer ME", "evidence": [ { "database": "UniProtKB", "id": "P02766", "url": "https://www.uniprot.org/uniprot/P02766" }, { "database": "Reactome", "id": "R-HSA-975634", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-975634" } ], "reference": [ { "type": "PubMed", "id": "10052934", "url": "https://glygen.org/publication/PubMed/10052934" } ] }, { "title": "Transthyretin Leu12Pro is associated with systemic, neuropathic and leptomeningeal amyloidosis.", "journal": "Brain : a journal of neurology", "date": "1999", "authors": "Brett M, Persey MR, Reilly MM, Revesz T, Booth DR, Booth SE, Hawkins PN, Pepys MB, Morgan-Hughes JA", "evidence": [ { "database": "UniProtKB", "id": "P02766", "url": "https://www.uniprot.org/uniprot/P02766" } ], "reference": [ { "type": "PubMed", "id": "10071047", "url": "https://glygen.org/publication/PubMed/10071047" } ] }, { "title": "Retinal stimulates ATP hydrolysis by purified and reconstituted ABCR, the photoreceptor-specific ATP-binding cassette transporter responsible for Stargardt disease.", "journal": "The Journal of biological chemistry", "date": "1999", "authors": "Sun H, Molday RS, Nathans J", "evidence": [ { "database": "Reactome", "id": "R-HSA-2453902", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2453902" } ], "reference": [ { "type": "PubMed", "id": "10075733", "url": "https://glygen.org/publication/PubMed/10075733" } ] }, { "title": "Constitutive and regulated alpha-secretase cleavage of Alzheimer's amyloid precursor protein by a disintegrin metalloprotease.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1999", "authors": "Lammich S, Kojro E, Postina R, Gilbert S, Pfeiffer R, Jasionowski M, Haass C, Fahrenholz F", "evidence": [ { "database": "Reactome", "id": "R-HSA-977225", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-977225" } ], "reference": [ { "type": "PubMed", "id": "10097139", "url": "https://glygen.org/publication/PubMed/10097139" } ] }, { "title": "A new amyloidogenic transthyretin variant (Val122Ala) found in a compound heterozygous patient.", "journal": "Amyloid : the international journal of experimental and clinical investigation : the official journal of the International Society of Amyloidosis", "date": "1999", "authors": "Theberge R, Connors L, Skare J, Skinner M, Falk RH, Costello CE", "evidence": [ { "database": "UniProtKB", "id": "P02766", "url": "https://www.uniprot.org/uniprot/P02766" } ], "reference": [ { "type": "PubMed", "id": "10211412", "url": "https://glygen.org/publication/PubMed/10211412" } ] }, { "title": "Synphilin-1 associates with alpha-synuclein and promotes the formation of cytosolic inclusions.", "journal": "Nature genetics", "date": "1999", "authors": "Engelender S, Kaminsky Z, Guo X, Sharp AH, Amaravi RK, Kleiderlein JJ, Margolis RL, Troncoso JC, Lanahan AA, Worley PF, Dawson VL, Dawson TM, Ross CA", "evidence": [ { "database": "Reactome", "id": "R-HSA-977225", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-977225" } ], "reference": [ { "type": "PubMed", "id": "10319874", "url": "https://glygen.org/publication/PubMed/10319874" } ] }, { "title": "Transthyretin localization in cultured and native human retinal pigment epithelium.", "journal": "Exp. Eye Res.", "date": "1999", "authors": "Getz R K, Kennedy B G, Mangini N J", "evidence": [ { "database": "UniProtKB", "id": "P02766", "url": "https://www.uniprot.org/uniprot/P02766" } ], "reference": [ { "type": "PubMed", "id": "10328977", "url": "https://glygen.org/publication/PubMed/10328977" } ] }, { "title": "Mutations in the gene encoding 11-cis retinol dehydrogenase cause delayed dark adaptation and fundus albipunctatus.", "journal": "Nature genetics", "date": "1999", "authors": "Yamamoto H, Simon A, Eriksson U, Harris E, Berson EL, Dryja TP", "evidence": [ { "database": "Reactome", "id": "R-HSA-2453864", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2453864" } ], "reference": [ { "type": "PubMed", "id": "10369264", "url": "https://glygen.org/publication/PubMed/10369264" } ] }, { "title": "A stop-codon mutation in the BRI gene associated with familial British dementia.", "journal": "Nature", "date": "1999", "authors": "Vidal R, Frangione B, Rostagno A, Mead S, Revesz T, Plant G, Ghiso J", "evidence": [ { "database": "Reactome", "id": "R-HSA-977225", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-977225" } ], "reference": [ { "type": "PubMed", "id": "10391242", "url": "https://glygen.org/publication/PubMed/10391242" } ] }, { "title": "Medin: an integral fragment of aortic smooth muscle cell-produced lactadherin forms the most common human amyloid.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1999", "authors": "Haggqvist B, Naslund J, Sletten K, Westermark GT, Mucchiano G, Tjernberg LO, Nordstedt C, Engstrom U, Westermark P", "evidence": [ { "database": "Reactome", "id": "R-HSA-977225", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-977225" } ], "reference": [ { "type": "PubMed", "id": "10411933", "url": "https://glygen.org/publication/PubMed/10411933" } ] }, { "title": "Identification of a new transthyretin variant (Ile49) in familial amyloidotic polyneuropathy using electrospray ionization mass spectrometry and nonisotopic RNase cleavage assay.", "journal": "Human heredity", "date": "1999", "authors": "Nakamura M, Yamashita T, Ando Y, Hamidi Asl K, Tashima K, Ohlsson P, Kususe Y, Benson MD", "evidence": [ { "database": "UniProtKB", "id": "P02766", "url": "https://www.uniprot.org/uniprot/P02766" } ], "reference": [ { "type": "PubMed", "id": "10436378", "url": "https://glygen.org/publication/PubMed/10436378" } ] }, { "title": "A new transthyretin variant (Ser23Asn) associated with familial amyloidosis in a Portuguese patient.", "journal": "Amyloid : the international journal of experimental and clinical investigation : the official journal of the International Society of Amyloidosis", "date": "1999", "authors": "Connors LH, Theberge R, Skare J, Costello CE, Falk RH, Skinner M", "evidence": [ { "database": "UniProtKB", "id": "P02766", "url": "https://www.uniprot.org/uniprot/P02766" } ], "reference": [ { "type": "PubMed", "id": "10439117", "url": "https://glygen.org/publication/PubMed/10439117" } ] }, { "title": "A novel compound heterozygote (FAP ATTR Arg104His/ATTR Val30Met) with high serum transthyretin (TTR) and retinol binding protein (RBP) levels.", "journal": "Biochem. Biophys. Res. Commun.", "date": "1999", "authors": "Terazaki H, Ando Y, Misumi S, Nakamura M, Ando E, Matsunaga N, Shoji S, Okuyama M, Ideta H, Nakagawa K, Ishizaki T, Ando M, Saraiva M J", "evidence": [ { "database": "UniProtKB", "id": "P02766", "url": "https://www.uniprot.org/uniprot/P02766" } ], "reference": [ { "type": "PubMed", "id": "10529370", "url": "https://glygen.org/publication/PubMed/10529370" } ] }, { "title": "Interactions of Alzheimer amyloid-beta peptides with glycosaminoglycans effects on fibril nucleation and growth.", "journal": "European journal of biochemistry", "date": "1999", "authors": "McLaurin J, Franklin T, Zhang X, Deng J, Fraser PE", "evidence": [ { "database": "Reactome", "id": "R-HSA-977225", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-977225" } ], "reference": [ { "type": "PubMed", "id": "10583407", "url": "https://glygen.org/publication/PubMed/10583407" } ] }, { "title": "Usefulness of MALDI/TOF mass spectrometry of immunoprecipitated serum variant transthyretin in the diagnosis of familial amyloid polyneuropathy.", "journal": "Amyloid : the international journal of experimental and clinical investigation : the official journal of the International Society of Amyloidosis", "date": "1999", "authors": "Tachibana N, Tokuda T, Yoshida K, Taketomi T, Nakazato M, Li YF, Masuda Y, Ikeda S", "evidence": [ { "database": "UniProtKB", "id": "P02766", "url": "https://www.uniprot.org/uniprot/P02766" } ], "reference": [ { "type": "PubMed", "id": "10611950", "url": "https://glygen.org/publication/PubMed/10611950" } ] }, { "title": "11-cis retinol dehydrogenase mutations as a major cause of the congenital night-blindness disorder known as fundus albipunctatus.", "journal": "Molecular vision", "date": "1999", "authors": "Gonzalez-Fernandez F, Kurz D, Bao Y, Newman S, Conway BP, Young JE, Han DP, Khani SC", "evidence": [ { "database": "Reactome", "id": "R-HSA-2453902", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2453902" } ], "reference": [ { "type": "PubMed", "id": "10617778", "url": "https://glygen.org/publication/PubMed/10617778" } ] }, { "title": "New transthyretin variants SER 91 and SER 116 associated with familial amyloidotic polyneuropathy. Mutations in brief no. 151. Online.", "journal": "Human mutation", "date": "1998", "authors": "Misrahi AM, Plante V, Lalu T, Serre L, Adams D, Lacroix DC, Said G", "evidence": [ { "database": "UniProtKB", "id": "P02766", "url": "https://www.uniprot.org/uniprot/P02766" } ], "reference": [ { "type": "PubMed", "id": "10627135", "url": "https://glygen.org/publication/PubMed/10627135" } ] }, { "title": "A new nonamyloid transthyretin variant, G101S, detected by electrospray ionization/mass spectrometry.", "journal": "Hum. Mutat.", "date": "1998", "authors": "Kishikawa M, Nakanishi T, Miyazaki A, Hatanaka M, Shimizu A, Tamoto S, Ohsawa N, Hayashi H, Kanai M", "evidence": [ { "database": "UniProtKB", "id": "P02766", "url": "https://www.uniprot.org/uniprot/P02766" } ], "reference": [ { "type": "PubMed", "id": "10671063", "url": "https://glygen.org/publication/PubMed/10671063" } ] }, { "title": "Transthyretin Ile73Val is associated with familial amyloidotic polyneuropathy in a Bangladeshi family. Mutations in brief no. 158. Online.", "journal": "Human mutation", "date": "1998", "authors": "Booth DR, Gillmore JD, Persey MR, Booth SE, Cafferty KD, Tennent GA, Madhoo S, Cochrane SW, Whitehead TC, Pasvol G, Hawkins PN", "evidence": [ { "database": "UniProtKB", "id": "P02766", "url": "https://www.uniprot.org/uniprot/P02766" } ], "reference": [ { "type": "PubMed", "id": "10694917", "url": "https://glygen.org/publication/PubMed/10694917" } ] }, { "title": "Rational design of potent human transthyretin amyloid disease inhibitors.", "journal": "Nat. Struct. Biol.", "date": "2000", "authors": "Klabunde T, Petrassi H M, Oza V B, Raman P, Kelly J W, Sacchettini J C", "evidence": [ { "database": "UniProtKB", "id": "P02766", "url": "https://www.uniprot.org/uniprot/P02766" } ], "reference": [ { "type": "PubMed", "id": "10742177", "url": "https://glygen.org/publication/PubMed/10742177" } ] }, { "title": "Identification and characterization of all-trans-retinol dehydrogenase from photoreceptor outer segments, the visual cycle enzyme that reduces all-trans-retinal to all-trans-retinol.", "journal": "The Journal of biological chemistry", "date": "2000", "authors": "Rattner A, Smallwood PM, Nathans J", "evidence": [ { "database": "Reactome", "id": "R-HSA-2453902", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2453902" } ], "reference": [ { "type": "PubMed", "id": "10753906", "url": "https://glygen.org/publication/PubMed/10753906" } ] }, { "title": "Hydrolysis of retinyl esters by pancreatic triglyceride lipase.", "journal": "Biochemistry", "date": "2000", "authors": "van Bennekum AM, Fisher EA, Blaner WS, Harrison EH", "evidence": [ { "database": "Reactome", "id": "R-HSA-975634", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-975634" } ], "reference": [ { "type": "PubMed", "id": "10769148", "url": "https://glygen.org/publication/PubMed/10769148" } ] }, { "title": "A novel variant of transthyretin (Glu89Lys) associated with familial amyloidotic polyneuropathy.", "journal": "Amyloid : the international journal of experimental and clinical investigation : the official journal of the International Society of Amyloidosis", "date": "2000", "authors": "Nakamura M, Hamidi Asl K, Benson MD", "evidence": [ { "database": "UniProtKB", "id": "P02766", "url": "https://www.uniprot.org/uniprot/P02766" } ], "reference": [ { "type": "PubMed", "id": "10842705", "url": "https://glygen.org/publication/PubMed/10842705" } ] }, { "title": "Heart failure caused by a novel amyloidogenic mutation of the transthyretin gene: ATTR Ala45Ser.", "journal": "Amyloid : the international journal of experimental and clinical investigation : the official journal of the International Society of Amyloidosis", "date": "2000", "authors": "Janunger T, Anan I, Holmgren G, Lovheim O, Ohlsson PI, Suhr OB, Tashima K", "evidence": [ { "database": "UniProtKB", "id": "P02766", "url": "https://www.uniprot.org/uniprot/P02766" } ], "reference": [ { "type": "PubMed", "id": "10842718", "url": "https://glygen.org/publication/PubMed/10842718" } ] }, { "title": "New transthyretin mutation V28M in a Portuguese kindred with amyloid polyneuropathy.", "journal": "Muscle & nerve", "date": "2000", "authors": "de Carvalho M, Moreira P, Evangelista T, Ducla-Soares JL, Bento M, Fernandes R, Saraiva MJ", "evidence": [ { "database": "UniProtKB", "id": "P02766", "url": "https://www.uniprot.org/uniprot/P02766" } ], "reference": [ { "type": "PubMed", "id": "10882995", "url": "https://glygen.org/publication/PubMed/10882995" } ] }, { "title": "A furin-like convertase mediates propeptide cleavage of BACE, the Alzheimer's beta -secretase.", "journal": "The Journal of biological chemistry", "date": "2000", "authors": "Bennett BD, Denis P, Haniu M, Teplow DB, Kahn S, Louis JC, Citron M, Vassar R", "evidence": [ { "database": "Reactome", "id": "R-HSA-977225", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-977225" } ], "reference": [ { "type": "PubMed", "id": "10956649", "url": "https://glygen.org/publication/PubMed/10956649" } ] }, { "title": "A comparative analysis of 23 structures of the amyloidogenic protein transthyretin.", "journal": "J. Mol. Biol.", "date": "2000", "authors": "H\u00f6rnberg A, Eneqvist T, Olofsson A, Lundgren E, Sauer-Eriksson A E", "evidence": [ { "database": "UniProtKB", "id": "P02766", "url": "https://www.uniprot.org/uniprot/P02766" } ], "reference": [ { "type": "PubMed", "id": "10986125", "url": "https://glygen.org/publication/PubMed/10986125" } ] }, { "title": "A high association with cone dystrophy in Fundus albipunctatus caused by mutations of the RDH5 gene.", "journal": "Investigative ophthalmology & visual science", "date": "2000", "authors": "Nakamura M, Hotta Y, Tanikawa A, Terasaki H, Miyake Y", "evidence": [ { "database": "Reactome", "id": "R-HSA-2453864", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2453864" } ], "reference": [ { "type": "PubMed", "id": "11053295", "url": "https://glygen.org/publication/PubMed/11053295" } ] }, { "title": "Rapid initial removal of chylomicron remnants by the mouse liver does not require hepatically localized apolipoprotein E.", "journal": "Journal of lipid research", "date": "2000", "authors": "Yu KC, Jiang Y, Chen W, Cooper AD", "evidence": [ { "database": "Reactome", "id": "R-HSA-975634", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-975634" } ], "reference": [ { "type": "PubMed", "id": "11060341", "url": "https://glygen.org/publication/PubMed/11060341" } ] }, { "title": "A novel compound heterozygous mutation in the RDH5 gene in a patient with fundus albipunctatus.", "journal": "American journal of ophthalmology", "date": "2000", "authors": "Kuroiwa S, Kikuchi T, Yoshimura N", "evidence": [ { "database": "Reactome", "id": "R-HSA-2453864", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2453864" } ], "reference": [ { "type": "PubMed", "id": "11078852", "url": "https://glygen.org/publication/PubMed/11078852" } ] }, { "title": "The C-terminal nucleotide binding domain of the human retinal ABCR protein is an adenosine triphosphatase.", "journal": "Biochemistry", "date": "2000", "authors": "Biswas EE, Biswas SB", "evidence": [ { "database": "Reactome", "id": "R-HSA-2453902", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2453902" } ], "reference": [ { "type": "PubMed", "id": "11123914", "url": "https://glygen.org/publication/PubMed/11123914" } ] }, { "title": "Rod and cone visual cycle consequences of a null mutation in the 11-cis-retinol dehydrogenase gene in man.", "journal": "Visual neuroscience", "date": "2000", "authors": "Cideciyan AV, Haeseleer F, Fariss RN, Aleman TS, Jang GF, Verlinde CLMJ, Marmor MF, Jacobson SG, Palczewski K", "evidence": [ { "database": "Reactome", "id": "R-HSA-2453864", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2453864" } ], "reference": [ { "type": "PubMed", "id": "11153648", "url": "https://glygen.org/publication/PubMed/11153648" } ] }, { "title": "Retinyl ester secretion by intestinal cells: a specific and regulated process dependent on assembly and secretion of chylomicrons.", "journal": "Journal of lipid research", "date": "2001", "authors": "Nayak N, Harrison EH, Hussain MM", "evidence": [ { "database": "Reactome", "id": "R-HSA-975634", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-975634" } ], "reference": [ { "type": "PubMed", "id": "11181758", "url": "https://glygen.org/publication/PubMed/11181758" } ] }, { "title": "Transthyretin stability as a key factor in amyloidogenesis: X-ray analysis at atomic resolution.", "journal": "J. Mol. Biol.", "date": "2001", "authors": "Sebasti\u00e3o M P, Lamzin V, Saraiva M J, Damas A M", "evidence": [ { "database": "UniProtKB", "id": "P02766", "url": "https://www.uniprot.org/uniprot/P02766" } ], "reference": [ { "type": "PubMed", "id": "11243784", "url": "https://glygen.org/publication/PubMed/11243784" } ] }, { "title": "Identification, retinoid binding, and x-ray analysis of a human retinol-binding protein.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2001", "authors": "Folli C, Calderone V, Ottonello S, Bolchi A, Zanotti G, Stoppini M, Berni R", "evidence": [ { "database": "Reactome", "id": "R-HSA-975634", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-975634" } ], "reference": [ { "type": "PubMed", "id": "11274389", "url": "https://glygen.org/publication/PubMed/11274389" } ] }, { "title": "Phosphorylation regulates intracellular trafficking of beta-secretase.", "journal": "The Journal of biological chemistry", "date": "2001", "authors": "Walter J, Fluhrer R, Hartung B, Willem M, Kaether C, Capell A, Lammich S, Multhaup G, Haass C", "evidence": [ { "database": "Reactome", "id": "R-HSA-977225", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-977225" } ], "reference": [ { "type": "PubMed", "id": "11278841", "url": "https://glygen.org/publication/PubMed/11278841" } ] }, { "title": "Mutations in the gene encoding lecithin retinol acyltransferase are associated with early-onset severe retinal dystrophy.", "journal": "Nature genetics", "date": "2001", "authors": "Thompson DA, Li Y, McHenry CL, Carlson TJ, Ding X, Sieving PA, Apfelstedt-Sylla E, Gal A", "evidence": [ { "database": "Reactome", "id": "R-HSA-2453864", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2453864" } ], "reference": [ { "type": "PubMed", "id": "11381255", "url": "https://glygen.org/publication/PubMed/11381255" } ] }, { "title": "A new human hereditary amyloidosis: the result of a stop-codon mutation in the apolipoprotein AII gene.", "journal": "Genomics", "date": "2001", "authors": "Benson MD, Liepnieks JJ, Yazaki M, Yamashita T, Hamidi Asl K, Guenther B, Kluve-Beckerman B", "evidence": [ { "database": "Reactome", "id": "R-HSA-977225", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-977225" } ], "reference": [ { "type": "PubMed", "id": "11401442", "url": "https://glygen.org/publication/PubMed/11401442" } ] }, { "title": "Structure of a new polymorphic monoclinic form of human transthyretin at 3 A resolution reveals a mixed complex between unliganded and T4-bound tetramers of TTR.", "journal": "Acta Crystallogr. D", "date": "2001", "authors": "Wojtczak A, Neumann P, Cody V", "evidence": [ { "database": "UniProtKB", "id": "P02766", "url": "https://www.uniprot.org/uniprot/P02766" } ], "reference": [ { "type": "PubMed", "id": "11418763", "url": "https://glygen.org/publication/PubMed/11418763" } ] }, { "title": "Recurrent subarachnoid hemorrhage associated with a new transthyretin variant (Gly53Glu).", "journal": "Neurology", "date": "2001", "authors": "Ellie E, Camou F, Vital A, Rummens C, Grateau G, Delpech M, Valleix S", "evidence": [ { "database": "UniProtKB", "id": "P02766", "url": "https://www.uniprot.org/uniprot/P02766" } ], "reference": [ { "type": "PubMed", "id": "11445644", "url": "https://glygen.org/publication/PubMed/11445644" } ] }, { "title": "Codeposition of apolipoprotein A-IV and transthyretin in senile systemic (ATTR) amyloidosis.", "journal": "Biochemical and biophysical research communications", "date": "2001", "authors": "Bergstrom J, Murphy C, Eulitz M, Weiss DT, Westermark GT, Solomon A, Westermark P", "evidence": [ { "database": "Reactome", "id": "R-HSA-977225", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-977225" } ], "reference": [ { "type": "PubMed", "id": "11467836", "url": "https://glygen.org/publication/PubMed/11467836" } ] }, { "title": "An engineered transthyretin monomer that is nonamyloidogenic, unless it is partially denatured.", "journal": "Biochemistry", "date": "2001", "authors": "Jiang X, Smith CS, Petrassi HM, Hammarstrom P, White JT, Sacchettini JC, Kelly JW", "evidence": [ { "database": "UniProtKB", "id": "P02766", "url": "https://www.uniprot.org/uniprot/P02766" } ], "reference": [ { "type": "PubMed", "id": "11560492", "url": "https://glygen.org/publication/PubMed/11560492" } ] }, { "title": "Parkin ubiquitinates the alpha-synuclein-interacting protein, synphilin-1: implications for Lewy-body formation in Parkinson disease.", "journal": "Nature medicine", "date": "2001", "authors": "Chung KK, Zhang Y, Lim KL, Tanaka Y, Huang H, Gao J, Ross CA, Dawson VL, Dawson TM", "evidence": [ { "database": "Reactome", "id": "R-HSA-977225", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-977225" } ], "reference": [ { "type": "PubMed", "id": "11590439", "url": "https://glygen.org/publication/PubMed/11590439" } ] }, { "title": "The molecular basis of dichromatic color vision in males with multiple red and green visual pigment genes.", "journal": "Human molecular genetics", "date": "2002", "authors": "Jagla WM, Jagle H, Hayashi T, Sharpe LT, Deeb SS", "evidence": [ { "database": "Reactome", "id": "R-HSA-2453864", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2453864" } ], "reference": [ { "type": "PubMed", "id": "11772996", "url": "https://glygen.org/publication/PubMed/11772996" } ] }, { "title": "Not all perlecans are created equal: interactions with fibroblast growth factor (FGF) 2 and FGF receptors.", "journal": "The Journal of biological chemistry", "date": "2002", "authors": "Knox S, Merry C, Stringer S, Melrose J, Whitelock J", "evidence": [ { "database": "Reactome", "id": "R-HSA-3000171", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3000171" } ], "reference": [ { "type": "PubMed", "id": "11847221", "url": "https://glygen.org/publication/PubMed/11847221" } ] }, { "title": "Characterization of transthyretin variants in familial transthyretin amyloidosis by mass spectrometric peptide mapping and DNA sequence analysis.", "journal": "Analytical chemistry", "date": "2002", "authors": "Lim A, Prokaeva T, McComb ME, O'Connor PB, Theberge R, Connors LH, Skinner M, Costello CE", "evidence": [ { "database": "UniProtKB", "id": "P02766", "url": "https://www.uniprot.org/uniprot/P02766" } ], "reference": [ { "type": "PubMed", "id": "11866053", "url": "https://glygen.org/publication/PubMed/11866053" } ] }, { "title": "Binding of serum amyloid P-component (SAP) by amyloid fibrils.", "journal": "Clinical and experimental immunology", "date": "1979", "authors": "Pepys MB, Dyck RF, de Beer FC, Skinner M, Cohen AS", "evidence": [ { "database": "Reactome", "id": "R-HSA-977225", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-977225" } ], "reference": [ { "type": "PubMed", "id": "118839", "url": "https://glygen.org/publication/PubMed/118839" } ] }, { "title": "Evidence that the human gene for prostate short-chain dehydrogenase/reductase (PSDR1) encodes a novel retinal reductase (RalR1).", "journal": "The Journal of biological chemistry", "date": "2002", "authors": "Kedishvili NY, Chumakova OV, Chetyrkin SV, Belyaeva OV, Lapshina EA, Lin DW, Matsumura M, Nelson PS", "evidence": [ { "database": "Reactome", "id": "R-HSA-2453902", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2453902" } ], "reference": [ { "type": "PubMed", "id": "12036956", "url": "https://glygen.org/publication/PubMed/12036956" } ] }, { "title": "Misdiagnosis of hereditary amyloidosis as AL (primary) amyloidosis.", "journal": "The New England journal of medicine", "date": "2002", "authors": "Lachmann HJ, Booth DR, Booth SE, Bybee A, Gilbertson JA, Gillmore JD, Pepys MB, Hawkins PN", "evidence": [ { "database": "UniProtKB", "id": "P02766", "url": "https://www.uniprot.org/uniprot/P02766" } ], "reference": [ { "type": "PubMed", "id": "12050338", "url": "https://glygen.org/publication/PubMed/12050338" } ] }, { "title": "Novel missense mutations in red/green opsin genes in congenital color-vision deficiencies.", "journal": "Biochemical and biophysical research communications", "date": "2002", "authors": "Ueyama H, Kuwayama S, Imai H, Tanabe S, Oda S, Nishida Y, Wada A, Shichida Y, Yamade S", "evidence": [ { "database": "Reactome", "id": "R-HSA-2453864", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2453864" } ], "reference": [ { "type": "PubMed", "id": "12051694", "url": "https://glygen.org/publication/PubMed/12051694" } ] }, { "title": "Rhodopsin with 11-cis-locked chromophore is capable of forming an active state photoproduct.", "journal": "The Journal of biological chemistry", "date": "2002", "authors": "Fan G, Siebert F, Sheves M, Vogel R", "evidence": [ { "database": "Reactome", "id": "R-HSA-2453902", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2453902" } ], "reference": [ { "type": "PubMed", "id": "12177057", "url": "https://glygen.org/publication/PubMed/12177057" } ] }, { "title": "Disulfide-bond formation in the transthyretin mutant Y114C prevents amyloid fibril formation in vivo and in vitro.", "journal": "Biochemistry", "date": "2002", "authors": "Eneqvist T, Olofsson A, Ando Y, Miyakawa T, Katsuragi S, Jass J, Lundgren E, Sauer-Eriksson AE", "evidence": [ { "database": "UniProtKB", "id": "P02766", "url": "https://www.uniprot.org/uniprot/P02766" } ], "reference": [ { "type": "PubMed", "id": "12403615", "url": "https://glygen.org/publication/PubMed/12403615" } ] }, { "title": "Cloning and characterization of a novel all-trans retinol short-chain dehydrogenase/reductase from the RPE.", "journal": "Investigative ophthalmology & visual science", "date": "2002", "authors": "Wu BX, Chen Y, Chen Y, Fan J, Rohrer B, Crouch RK, Ma JX", "evidence": [ { "database": "Reactome", "id": "R-HSA-2453902", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2453902" } ], "reference": [ { "type": "PubMed", "id": "12407145", "url": "https://glygen.org/publication/PubMed/12407145" } ] }, { "title": "Loss of calbindin-D28k from aging human cholinergic basal forebrain: relation to neuronal loss.", "journal": "The Journal of comparative neurology", "date": "2003", "authors": "Geula C, Bu J, Nagykery N, Scinto LF, Chan J, Joseph J, Parker R, Wu CK", "evidence": [ { "database": "Reactome", "id": "R-HSA-977225", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-977225" } ], "reference": [ { "type": "PubMed", "id": "12454989", "url": "https://glygen.org/publication/PubMed/12454989" } ] }, { "title": "A new transthyretin variant Leu55Gln in a patient with systemic amyloidosis.", "journal": "Amyloid : the international journal of experimental and clinical investigation : the official journal of the International Society of Amyloidosis", "date": "2002", "authors": "Yazaki M, Varga J, Dyck PJ, Benson MD", "evidence": [ { "database": "UniProtKB", "id": "P02766", "url": "https://www.uniprot.org/uniprot/P02766" } ], "reference": [ { "type": "PubMed", "id": "12557757", "url": "https://glygen.org/publication/PubMed/12557757" } ] }, { "title": "Exploring proteomes and analyzing protein processing by mass spectrometric identification of sorted N-terminal peptides.", "journal": "Nat. Biotechnol.", "date": "2003", "authors": "Gevaert K, Goethals M, Martens L, Van Damme J, Staes A, Thomas GR, Vandekerckhove J", "evidence": [ { "database": "UniProtKB", "id": "P02766", "url": "https://www.uniprot.org/uniprot/P02766" } ], "reference": [ { "type": "PubMed", "id": "12665801", "url": "https://glygen.org/publication/PubMed/12665801" } ] }, { "title": "Isolation and partial characterization of SAA-an amyloid-related protein from human serum.", "journal": "Journal of immunology (Baltimore, Md. : 1950)", "date": "1976", "authors": "Rosenthal CJ, Franklin EC, Frangione B, Greenspan J", "evidence": [ { "database": "Reactome", "id": "R-HSA-977225", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-977225" } ], "reference": [ { "type": "PubMed", "id": "1270801", "url": "https://glygen.org/publication/PubMed/1270801" } ] }, { "title": "Oculoleptomeningeal amyloidosis in a large kindred with a new transthyretin variant Tyr69His.", "journal": "Neurology", "date": "2003", "authors": "Blevins G, Macaulay R, Harder S, Fladeland D, Yamashita T, Yazaki M, Hamidi Asl K, Benson MD, Donat JR", "evidence": [ { "database": "UniProtKB", "id": "P02766", "url": "https://www.uniprot.org/uniprot/P02766" } ], "reference": [ { "type": "PubMed", "id": "12771253", "url": "https://glygen.org/publication/PubMed/12771253" } ] }, { "title": "Human lipoprotein lipase: relationship of activity, heparin affinity, and conformation as studied with monoclonal antibodies.", "journal": "Journal of lipid research", "date": "1992", "authors": "Peterson J, Fujimoto WY, Brunzell JD", "evidence": [ { "database": "Reactome", "id": "R-HSA-975634", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-975634" } ], "reference": [ { "type": "PubMed", "id": "1279089", "url": "https://glygen.org/publication/PubMed/1279089" } ] }, { "title": "Benzoxazoles as transthyretin amyloid fibril inhibitors: synthesis, evaluation, and mechanism of action.", "journal": "Angew. Chem. Int. Ed.", "date": "2003", "authors": "Razavi Hossein, Palaninathan Satheesh K, Powers Evan T, Wiseman R Luke, Purkey Hans E, Mohamedmohaideen Nilofar N, Deechongkit Songpon, Chiang Kyle P, Dendle Maria T A, Sacchettini James C, Kelly Jeffery W", "evidence": [ { "database": "UniProtKB", "id": "P02766", "url": "https://www.uniprot.org/uniprot/P02766" } ], "reference": [ { "type": "PubMed", "id": "12820260", "url": "https://glygen.org/publication/PubMed/12820260" } ] }, { "title": "Identification of S-sulfonation and S-thiolation of a novel transthyretin Phe33Cys variant from a patient diagnosed with familial transthyretin amyloidosis.", "journal": "Protein science : a publication of the Protein Society", "date": "2003", "authors": "Lim A, Prokaeva T, McComb ME, Connors LH, Skinner M, Costello CE", "evidence": [ { "database": "UniProtKB", "id": "P02766", "url": "https://www.uniprot.org/uniprot/P02766" } ], "reference": [ { "type": "PubMed", "id": "12876326", "url": "https://glygen.org/publication/PubMed/12876326" } ] }, { "title": "Two transthyretin variants (TTR Ala-49 and TTR Gln-89) in two Sicilian kindreds with hereditary amyloidosis.", "journal": "Human mutation", "date": "1992", "authors": "Almeida MR, Ferlini A, Forabosco A, Gawinowicz M, Costa PP, Salvi F, Plasmati R, Tassinari CA, Altland K, Saraiva MJ", "evidence": [ { "database": "UniProtKB", "id": "P02766", "url": "https://www.uniprot.org/uniprot/P02766" } ], "reference": [ { "type": "PubMed", "id": "1301926", "url": "https://glygen.org/publication/PubMed/1301926" } ] }, { "title": "Defective colour vision associated with a missense mutation in the human green visual pigment gene.", "journal": "Nature genetics", "date": "1992", "authors": "Winderickx J, Sanocki E, Lindsey DT, Teller DY, Motulsky AG, Deeb SS", "evidence": [ { "database": "Reactome", "id": "R-HSA-2453864", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2453864" } ], "reference": [ { "type": "PubMed", "id": "1302020", "url": "https://glygen.org/publication/PubMed/1302020" } ] }, { "title": "The familial distribution of congenital tritanopia, with some remarks on some similar conditions.", "journal": "Annals of human genetics", "date": "1955", "authors": "KALMUS H", "evidence": [ { "database": "Reactome", "id": "R-HSA-2453864", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2453864" } ], "reference": [ { "type": "PubMed", "id": "13249225", "url": "https://glygen.org/publication/PubMed/13249225" } ] }, { "title": "Transthyretin Pro55, a variant associated with early-onset, aggressive, diffuse amyloidosis with cardiac and neurologic involvement.", "journal": "Human genetics", "date": "1992", "authors": "Jacobson DR, McFarlin DE, Kane I, Buxbaum JN", "evidence": [ { "database": "UniProtKB", "id": "P02766", "url": "https://www.uniprot.org/uniprot/P02766" } ], "reference": [ { "type": "PubMed", "id": "1351039", "url": "https://glygen.org/publication/PubMed/1351039" } ] }, { "title": "A new mutant transthyretin (Arg 10) associated with familial amyloid polyneuropathy.", "journal": "Journal of medical genetics", "date": "1992", "authors": "Uemichi T, Murrell JR, Zeldenrust S, Benson MD", "evidence": [ { "database": "UniProtKB", "id": "P02766", "url": "https://www.uniprot.org/uniprot/P02766" } ], "reference": [ { "type": "PubMed", "id": "1362222", "url": "https://glygen.org/publication/PubMed/1362222" } ] }, { "title": "Human tritanopia associated with a third amino acid substitution in the blue-sensitive visual pigment.", "journal": "American journal of human genetics", "date": "1992", "authors": "Weitz CJ, Went LN, Nathans J", "evidence": [ { "database": "Reactome", "id": "R-HSA-2453864", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2453864" } ], "reference": [ { "type": "PubMed", "id": "1386496", "url": "https://glygen.org/publication/PubMed/1386496" } ] }, { "title": "Familial amyloidotic polyneuropathy presenting with carpal tunnel syndrome and a new transthyretin mutation, asparagine 70.", "journal": "Neurology", "date": "1992", "authors": "Izumoto S, Younger D, Hays AP, Martone RL, Smith RT, Herbert J", "evidence": [ { "database": "UniProtKB", "id": "P02766", "url": "https://www.uniprot.org/uniprot/P02766" } ], "reference": [ { "type": "PubMed", "id": "1436517", "url": "https://glygen.org/publication/PubMed/1436517" } ] }, { "title": "Siah-1 facilitates ubiquitination and degradation of synphilin-1.", "journal": "The Journal of biological chemistry", "date": "2003", "authors": "Nagano Y, Yamashita H, Takahashi T, Kishida S, Nakamura T, Iseki E, Hattori N, Mizuno Y, Kikuchi A, Matsumoto M", "evidence": [ { "database": "Reactome", "id": "R-HSA-977225", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-977225" } ], "reference": [ { "type": "PubMed", "id": "14506261", "url": "https://glygen.org/publication/PubMed/14506261" } ] }, { "title": "Biochemical and structural characterization of the interaction of memapsin 2 (beta-secretase) cytosolic domain with the VHS domain of GGA proteins.", "journal": "Biochemistry", "date": "2003", "authors": "He X, Zhu G, Koelsch G, Rodgers KK, Zhang XC, Tang J", "evidence": [ { "database": "Reactome", "id": "R-HSA-977225", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-977225" } ], "reference": [ { "type": "PubMed", "id": "14567678", "url": "https://glygen.org/publication/PubMed/14567678" } ] }, { "title": "Synthesis and characterization of potent bivalent amyloidosis inhibitors that bind prior to transthyretin tetramerization.", "journal": "J. Am. Chem. Soc.", "date": "2003", "authors": "Green Nora S, Palaninathan Satheesh K, Sacchettini James C, Kelly Jeffery W", "evidence": [ { "database": "UniProtKB", "id": "P02766", "url": "https://www.uniprot.org/uniprot/P02766" } ], "reference": [ { "type": "PubMed", "id": "14583036", "url": "https://glygen.org/publication/PubMed/14583036" } ] }, { "title": "Diflunisal analogues stabilize the native state of transthyretin. Potent inhibition of amyloidogenesis.", "journal": "J. Med. Chem.", "date": "2004", "authors": "Adamski-Werner Sara L, Palaninathan Satheesh K, Sacchettini James C, Kelly Jeffery W", "evidence": [ { "database": "UniProtKB", "id": "P02766", "url": "https://www.uniprot.org/uniprot/P02766" } ], "reference": [ { "type": "PubMed", "id": "14711308", "url": "https://glygen.org/publication/PubMed/14711308" } ] }, { "title": "Screening for N-glycosylated proteins by liquid chromatography mass spectrometry.", "journal": "Proteomics", "date": "2004", "authors": "Bunkenborg J, Pilch BJ, Podtelejnikov AV, Wisniewski JR", "evidence": [ { "database": "UniProtKB", "id": "P02766", "url": "https://www.uniprot.org/uniprot/P02766" } ], "reference": [ { "type": "PubMed", "id": "14760718", "url": "https://glygen.org/publication/PubMed/14760718" } ] }, { "title": "The characteristics of tritanopia.", "journal": "Journal of the Optical Society of America", "date": "1952", "authors": "WRIGHT WD", "evidence": [ { "database": "Reactome", "id": "R-HSA-2453864", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2453864" } ], "reference": [ { "type": "PubMed", "id": "14946611", "url": "https://glygen.org/publication/PubMed/14946611" } ] }, { "title": "Ubiquitylation of synphilin-1 and alpha-synuclein by SIAH and its presence in cellular inclusions and Lewy bodies imply a role in Parkinson's disease.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2004", "authors": "Liani E, Eyal A, Avraham E, Shemer R, Szargel R, Berg D, Bornemann A, Riess O, Ross CA, Rott R, Engelender S", "evidence": [ { "database": "Reactome", "id": "R-HSA-977225", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-977225" } ], "reference": [ { "type": "PubMed", "id": "15064394", "url": "https://glygen.org/publication/PubMed/15064394" } ] }, { "title": "Characterization of a transthyretin-related amyloid fibril protein from cerebral amyloid angiopathy in type I familial amyloid polyneuropathy.", "journal": "Journal of the neurological sciences", "date": "1992", "authors": "Kametani F, Ikeda S, Yanagisawa N, Ishi T, Hanyu N", "evidence": [ { "database": "UniProtKB", "id": "P02766", "url": "https://www.uniprot.org/uniprot/P02766" } ], "reference": [ { "type": "PubMed", "id": "1517749", "url": "https://glygen.org/publication/PubMed/1517749" } ] }, { "title": "A novel transthyretin mutation at position 30 (Leu for Val) associated with familial amyloidotic polyneuropathy.", "journal": "Biochemical and biophysical research communications", "date": "1992", "authors": "Murakami T, Atsumi T, Maeda S, Tanase S, Ishikawa K, Mita S, Kumamoto T, Araki S, Ando M", "evidence": [ { "database": "UniProtKB", "id": "P02766", "url": "https://www.uniprot.org/uniprot/P02766" } ], "reference": [ { "type": "PubMed", "id": "1520326", "url": "https://glygen.org/publication/PubMed/1520326" } ] }, { "title": "Novel variant transthyretin gene (Ser50 to Ile) in familial cardiac amyloidosis.", "journal": "Biochemical and biophysical research communications", "date": "1992", "authors": "Nishi H, Kimura A, Harada H, Hayashi Y, Nakamura M, Sasazuki T", "evidence": [ { "database": "UniProtKB", "id": "P02766", "url": "https://www.uniprot.org/uniprot/P02766" } ], "reference": [ { "type": "PubMed", "id": "1520336", "url": "https://glygen.org/publication/PubMed/1520336" } ] }, { "title": "A severe form of amyloidotic polyneuropathy in a Costa Rican family with a rare transthyretin mutation (Glu54Lys).", "journal": "American journal of medical genetics. Part A", "date": "2004", "authors": "Busse A, Sanchez MA, Monterroso V, Alvarado MV, Leon P", "evidence": [ { "database": "UniProtKB", "id": "P02766", "url": "https://www.uniprot.org/uniprot/P02766" } ], "reference": [ { "type": "PubMed", "id": "15214015", "url": "https://glygen.org/publication/PubMed/15214015" } ] }, { "title": "Identification of transthyretin variants by sequential proteomic and genomic analysis.", "journal": "Clinical chemistry", "date": "2004", "authors": "Bergen HR 3rd, Zeldenrust SR, Butz ML, Snow DS, Dyck PJ, Dyck PJ, Klein CJ, O'Brien JF, Thibodeau SN, Muddiman DC", "evidence": [ { "database": "UniProtKB", "id": "P02766", "url": "https://www.uniprot.org/uniprot/P02766" } ], "reference": [ { "type": "PubMed", "id": "15217993", "url": "https://glygen.org/publication/PubMed/15217993" } ] }, { "title": "Mutations in RDH12 encoding a photoreceptor cell retinol dehydrogenase cause childhood-onset severe retinal dystrophy.", "journal": "Nature genetics", "date": "2004", "authors": "Janecke AR, Thompson DA, Utermann G, Becker C, Hubner CA, Schmid E, McHenry CL, Nair AR, Ruschendorf F, Heckenlively J, Wissinger B, Nurnberg P, Gal A", "evidence": [ { "database": "Reactome", "id": "R-HSA-2453864", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2453864" } ], "reference": [ { "type": "PubMed", "id": "15258582", "url": "https://glygen.org/publication/PubMed/15258582" } ] }, { "title": "Retinosomes: new insights into intracellular managing of hydrophobic substances in lipid bodies.", "journal": "The Journal of cell biology", "date": "2004", "authors": "Imanishi Y, Gerke V, Palczewski K", "evidence": [ { "database": "Reactome", "id": "R-HSA-2453902", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2453902" } ], "reference": [ { "type": "PubMed", "id": "15314061", "url": "https://glygen.org/publication/PubMed/15314061" } ] }, { "title": "Human tritanopia associated with two amino acid substitutions in the blue-sensitive opsin.", "journal": "American journal of human genetics", "date": "1992", "authors": "Weitz CJ, Miyake Y, Shinzato K, Montag E, Zrenner E, Went LN, Nathans J", "evidence": [ { "database": "Reactome", "id": "R-HSA-2453864", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2453864" } ], "reference": [ { "type": "PubMed", "id": "1531728", "url": "https://glygen.org/publication/PubMed/1531728" } ] }, { "title": "Retinal dehydrogenase 12 (RDH12) mutations in leber congenital amaurosis.", "journal": "American journal of human genetics", "date": "2004", "authors": "Perrault I, Hanein S, Gerber S, Barbet F, Ducroq D, Dollfus H, Hamel C, Dufier JL, Munnich A, Kaplan J, Rozet JM", "evidence": [ { "database": "Reactome", "id": "R-HSA-2453864", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2453864" } ], "reference": [ { "type": "PubMed", "id": "15322982", "url": "https://glygen.org/publication/PubMed/15322982" } ] }, { "title": "Identification of all-trans-retinol:all-trans-13,14-dihydroretinol saturase.", "journal": "The Journal of biological chemistry", "date": "2004", "authors": "Moise AR, Kuksa V, Imanishi Y, Palczewski K", "evidence": [ { "database": "Reactome", "id": "R-HSA-975634", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-975634" } ], "reference": [ { "type": "PubMed", "id": "15358783", "url": "https://glygen.org/publication/PubMed/15358783" } ] }, { "title": "Purification and partial characterization of cellular retinol-binding protein, type two, from human small intestine.", "journal": "The Journal of nutrition", "date": "1992", "authors": "Inagami S, Ong DE", "evidence": [ { "database": "Reactome", "id": "R-HSA-975634", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-975634" } ], "reference": [ { "type": "PubMed", "id": "1542003", "url": "https://glygen.org/publication/PubMed/1542003" } ] }, { "title": "Familial amyloidotic polyneuropathy: a new transthyretin position 30 mutation (alanine for valine) in a family of German descent.", "journal": "Clinical genetics", "date": "1992", "authors": "Jones LA, Skare JC, Cohen AS, Harding JA, Milunsky A, Skinner M", "evidence": [ { "database": "UniProtKB", "id": "P02766", "url": "https://www.uniprot.org/uniprot/P02766" } ], "reference": [ { "type": "PubMed", "id": "1544214", "url": "https://glygen.org/publication/PubMed/1544214" } ] }, { "title": "N-retinylidene-phosphatidylethanolamine is the preferred retinoid substrate for the photoreceptor-specific ABC transporter ABCA4 (ABCR).", "journal": "The Journal of biological chemistry", "date": "2004", "authors": "Beharry S, Zhong M, Molday RS", "evidence": [ { "database": "Reactome", "id": "R-HSA-2453902", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2453902" } ], "reference": [ { "type": "PubMed", "id": "15471866", "url": "https://glygen.org/publication/PubMed/15471866" } ] }, { "title": "An unusual transthyretin gene missense mutation (TTR Phe33Val) linked to familial amyloidotic polyneuropathy.", "journal": "Amyloid : the international journal of experimental and clinical investigation : the official journal of the International Society of Amyloidosis", "date": "2004", "authors": "Frigerio R, Fabrizi GM, Ferrarini M, Cavallaro T, Brighina L, Santoro P, Agostoni E, Cavaletti G, Rizzuto N, Ferrarese C", "evidence": [ { "database": "UniProtKB", "id": "P02766", "url": "https://www.uniprot.org/uniprot/P02766" } ], "reference": [ { "type": "PubMed", "id": "15478468", "url": "https://glygen.org/publication/PubMed/15478468" } ] }, { "title": "Two-step mechanism of binding of apolipoprotein E to heparin: implications for the kinetics of apolipoprotein E-heparan sulfate proteoglycan complex formation on cell surfaces.", "journal": "The Journal of biological chemistry", "date": "2005", "authors": "Futamura M, Dhanasekaran P, Handa T, Phillips MC, Lund-Katz S, Saito H", "evidence": [ { "database": "Reactome", "id": "R-HSA-975634", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-975634" } ], "reference": [ { "type": "PubMed", "id": "15583000", "url": "https://glygen.org/publication/PubMed/15583000" } ] }, { "title": "A new transthyretin mutation associated with amyloid cardiomyopathy.", "journal": "American journal of human genetics", "date": "1992", "authors": "Saraiva MJ, Almeida Mdo R, Sherman W, Gawinowicz M, Costa P, Costa PP, Goodman DS", "evidence": [ { "database": "UniProtKB", "id": "P02766", "url": "https://www.uniprot.org/uniprot/P02766" } ], "reference": [ { "type": "PubMed", "id": "1570831", "url": "https://glygen.org/publication/PubMed/1570831" } ] }, { "title": "X-ray crystallographic studies of two transthyretin variants: further insights into amyloidogenesis.", "journal": "Acta Crystallogr. D", "date": "2005", "authors": "Neto-Silva Ricardo M, Macedo-Ribeiro Sandra, Pereira Pedro J B, Coll M, Saraiva Maria J, Damas Ana M", "evidence": [ { "database": "UniProtKB", "id": "P02766", "url": "https://www.uniprot.org/uniprot/P02766" } ], "reference": [ { "type": "PubMed", "id": "15735344", "url": "https://glygen.org/publication/PubMed/15735344" } ] }, { "title": "Kinetic stabilization of the native state by protein engineering: implications for inhibition of transthyretin amyloidogenesis.", "journal": "J. Mol. Biol.", "date": "2005", "authors": "Foss Ted R, Kelker Matthew S, Wiseman R Luke, Wilson Ian A, Kelly Jeffery W", "evidence": [ { "database": "UniProtKB", "id": "P02766", "url": "https://www.uniprot.org/uniprot/P02766" } ], "reference": [ { "type": "PubMed", "id": "15769474", "url": "https://glygen.org/publication/PubMed/15769474" } ] }, { "title": "Kinetic stabilization of an oligomeric protein by a single ligand binding event.", "journal": "J. Am. Chem. Soc.", "date": "2005", "authors": "Wiseman R Luke, Johnson Steven M, Kelker Matthew S, Foss Ted, Wilson Ian A, Kelly Jeffery W", "evidence": [ { "database": "UniProtKB", "id": "P02766", "url": "https://www.uniprot.org/uniprot/P02766" } ], "reference": [ { "type": "PubMed", "id": "15826192", "url": "https://glygen.org/publication/PubMed/15826192" } ] }, { "title": "Biochemical properties of purified human retinol dehydrogenase 12 (RDH12): catalytic efficiency toward retinoids and C9 aldehydes and effects of cellular retinol-binding protein type I (CRBPI) and cellular retinaldehyde-binding protein (CRALBP) on the oxidation and reduction of retinoids.", "journal": "Biochemistry", "date": "2005", "authors": "Belyaeva OV, Korkina OV, Stetsenko AV, Kim T, Nelson PS, Kedishvili NY", "evidence": [ { "database": "Reactome", "id": "R-HSA-2453902", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2453902" } ], "reference": [ { "type": "PubMed", "id": "15865448", "url": "https://glygen.org/publication/PubMed/15865448" } ] }, { "title": "Senile seminal vesicle amyloid is derived from semenogelin I.", "journal": "The Journal of laboratory and clinical medicine", "date": "2005", "authors": "Linke RP, Joswig R, Murphy CL, Wang S, Zhou H, Gross U, Rocken C, Westermark P, Weiss DT, Solomon A", "evidence": [ { "database": "Reactome", "id": "R-HSA-977225", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-977225" } ], "reference": [ { "type": "PubMed", "id": "15962837", "url": "https://glygen.org/publication/PubMed/15962837" } ] }, { "title": "The effect of iodide and chloride on transthyretin structure and stability.", "journal": "Biochemistry", "date": "2005", "authors": "H\u00f6rnberg Andreas, Hultdin Ulrika W, Olofsson Anders, Sauer-Eriksson A Elisabeth", "evidence": [ { "database": "UniProtKB", "id": "P02766", "url": "https://www.uniprot.org/uniprot/P02766" } ], "reference": [ { "type": "PubMed", "id": "15981995", "url": "https://glygen.org/publication/PubMed/15981995" } ] }, { "title": "Neuronal sorting protein-related receptor sorLA/LR11 regulates processing of the amyloid precursor protein.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2005", "authors": "Andersen OM, Reiche J, Schmidt V, Gotthardt M, Spoelgen R, Behlke J, von Arnim CA, Breiderhoff T, Jansen P, Wu X, Bales KR, Cappai R, Masters CL, Gliemann J, Mufson EJ, Hyman BT, Paul SM, Nykjaer A, Willnow TE", "evidence": [ { "database": "Reactome", "id": "R-HSA-977225", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-977225" } ], "reference": [ { "type": "PubMed", "id": "16174740", "url": "https://glygen.org/publication/PubMed/16174740" } ] }, { "title": "Cys114-linked dimers of transthyretin are compatible with amyloid formation.", "journal": "Biochemistry", "date": "2005", "authors": "Karlsson A, Olofsson A, Eneqvist T, Sauer-Eriksson AE", "evidence": [ { "database": "UniProtKB", "id": "P02766", "url": "https://www.uniprot.org/uniprot/P02766" } ], "reference": [ { "type": "PubMed", "id": "16185074", "url": "https://glygen.org/publication/PubMed/16185074" } ] }, { "title": "Apoa5 Q139X truncation predisposes to late-onset hyperchylomicronemia due to lipoprotein lipase impairment.", "journal": "The Journal of clinical investigation", "date": "2005", "authors": "Marcais C, Verges B, Charriere S, Pruneta V, Merlin M, Billon S, Perrot L, Drai J, Sassolas A, Pennacchio LA, Fruchart-Najib J, Fruchart JC, Durlach V, Moulin P", "evidence": [ { "database": "Reactome", "id": "R-HSA-975634", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-975634" } ], "reference": [ { "type": "PubMed", "id": "16200213", "url": "https://glygen.org/publication/PubMed/16200213" } ] }, { "title": "Human plasma N-glycoproteome analysis by immunoaffinity subtraction, hydrazide chemistry, and mass spectrometry.", "journal": "Journal of proteome research", "date": "2005", "authors": "Liu T, Qian WJ, Gritsenko MA, Camp DG 2nd, Monroe ME, Moore RJ, Smith RD", "evidence": [ { "database": "UniProtKB", "id": "P02766", "url": "https://www.uniprot.org/uniprot/P02766#ptm_processing" }, { "database": "UniProtKB", "id": "P02766", "url": "https://www.uniprot.org/uniprot/P02766" } ], "reference": [ { "type": "PubMed", "id": "16335952", "url": "https://glygen.org/publication/PubMed/16335952" } ] }, { "title": "New mutant gene (transthyretin Arg 58) in cases with hereditary polyneuropathy detected by non-isotope method of single-strand conformation polymorphism analysis.", "journal": "Biochemical and biophysical research communications", "date": "1991", "authors": "Saeki Y, Ueno S, Yorifuji S, Sugiyama Y, Ide Y, Matsuzawa Y", "evidence": [ { "database": "UniProtKB", "id": "P02766", "url": "https://www.uniprot.org/uniprot/P02766" } ], "reference": [ { "type": "PubMed", "id": "1656975", "url": "https://glygen.org/publication/PubMed/1656975" } ] }, { "title": "The binding of 2,4-dinitrophenol to wild-type and amyloidogenic transthyretin.", "journal": "Acta crystallographica. Section D, Biological crystallography", "date": "2006", "authors": "Morais-de-Sa E, Neto-Silva RM, Pereira PJ, Saraiva MJ, Damas AM", "evidence": [ { "database": "UniProtKB", "id": "P02766", "url": "https://www.uniprot.org/uniprot/P02766" } ], "reference": [ { "type": "PubMed", "id": "16627944", "url": "https://glygen.org/publication/PubMed/16627944" } ] }, { "title": "Transthyretin (prealbumin) gene in human primary hepatic cancer.", "journal": "Sci. China, Ser. B, Chem. Life Sci. Earth Sci.", "date": "1991", "authors": "Gu J R, Jiang H Q, He L P, Li D Z, Zhou X M, Dai W L, Qian L F, Chen Y Q, Schweinfest C, Papas T", "evidence": [ { "database": "UniProtKB", "id": "P02766", "url": "https://www.uniprot.org/uniprot/P02766" } ], "reference": [ { "type": "PubMed", "id": "1666289", "url": "https://glygen.org/publication/PubMed/1666289" } ] }, { "title": "Structure, binding interface and hydrophobic transitions of Ca2+-loaded calbindin-D(28K).", "journal": "Nature structural & molecular biology", "date": "2006", "authors": "Kojetin DJ, Venters RA, Kordys DR, Thompson RJ, Kumar R, Cavanagh J", "evidence": [ { "database": "Reactome", "id": "R-HSA-977225", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-977225" } ], "reference": [ { "type": "PubMed", "id": "16799559", "url": "https://glygen.org/publication/PubMed/16799559" } ] }, { "title": "The discoidin domain receptor DDR2 is a receptor for type X collagen.", "journal": "Matrix biology : journal of the International Society for Matrix Biology", "date": "2006", "authors": "Leitinger B, Kwan AP", "evidence": [ { "database": "Reactome", "id": "R-HSA-3000171", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3000171" } ], "reference": [ { "type": "PubMed", "id": "16806867", "url": "https://glygen.org/publication/PubMed/16806867" } ] }, { "title": "Palmitoyl transferase activity of lecithin retinol acyl transferase.", "journal": "Biochemistry", "date": "2006", "authors": "Xue L, Jahng WJ, Gollapalli D, Rando RR", "evidence": [ { "database": "Reactome", "id": "R-HSA-975634", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-975634" } ], "reference": [ { "type": "PubMed", "id": "16939223", "url": "https://glygen.org/publication/PubMed/16939223" } ] }, { "title": "Screening genes of the retinoid metabolism: novel LRAT mutation in leber congenital amaurosis.", "journal": "American journal of ophthalmology", "date": "2006", "authors": "Senechal A, Humbert G, Surget MO, Bazalgette C, Bazalgette C, Arnaud B, Arndt C, Laurent E, Brabet P, Hamel CP", "evidence": [ { "database": "Reactome", "id": "R-HSA-2453864", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2453864" } ], "reference": [ { "type": "PubMed", "id": "17011878", "url": "https://glygen.org/publication/PubMed/17011878" } ] }, { "title": "Structural basis for the protective role of sulfite against transthyretin amyloid formation.", "journal": "Biochimica et biophysica acta", "date": "2007-01", "authors": "Gales Lu\u00eds, Saraiva Maria J, Damas Ana M", "evidence": [ { "database": "UniProtKB", "id": "P02766", "url": "https://www.uniprot.org/uniprot/P02766" } ], "reference": [ { "type": "PubMed", "id": "17175208", "url": "https://glygen.org/publication/PubMed/17175208" } ] }, { "title": "Acidic pH-induced conformational changes in amyloidogenic mutant transthyretin.", "journal": "J. Mol. Biol.", "date": "2007", "authors": "Pasquato Nicola, Berni Rodolfo, Folli Claudia, Alfieri Beatrice, Cendron Laura, Zanotti Giuseppe", "evidence": [ { "database": "UniProtKB", "id": "P02766", "url": "https://www.uniprot.org/uniprot/P02766" } ], "reference": [ { "type": "PubMed", "id": "17196219", "url": "https://glygen.org/publication/PubMed/17196219" } ] }, { "title": "A membrane receptor for retinol binding protein mediates cellular uptake of vitamin A.", "journal": "Science (New York, N.Y.)", "date": "2007", "authors": "Kawaguchi R, Yu J, Honda J, Hu J, Whitelegge J, Ping P, Wiita P, Bok D, Sun H", "evidence": [ { "database": "Reactome", "id": "R-HSA-2453902", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2453902" } ], "reference": [ { "type": "PubMed", "id": "17255476", "url": "https://glygen.org/publication/PubMed/17255476" } ] }, { "title": "Mutations in STRA6 cause a broad spectrum of malformations including anophthalmia, congenital heart defects, diaphragmatic hernia, alveolar capillary dysplasia, lung hypoplasia, and mental retardation.", "journal": "American journal of human genetics", "date": "2007", "authors": "Pasutto F, Sticht H, Hammersen G, Gillessen-Kaesbach G, Fitzpatrick DR, Nurnberg G, Brasch F, Schirmer-Zimmermann H, Tolmie JL, Chitayat D, Houge G, Fernandez-Martinez L, Keating S, Mortier G, Hennekam RC, von der Wense A, Slavotinek A, Meinecke P, Bitoun P, Becker C, Nurnberg P, Reis A, Rauch A", "evidence": [ { "database": "Reactome", "id": "R-HSA-2453864", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2453864" } ], "reference": [ { "type": "PubMed", "id": "17273977", "url": "https://glygen.org/publication/PubMed/17273977" } ] }, { "title": "A novel transthyretin mutation associated with familial amyloidotic polyneuropathy.", "journal": "Biochemical and biophysical research communications", "date": "1992", "authors": "Murakami T, Maeda S, Yi S, Ikegawa S, Kawashima E, Onodera S, Shimada K, Araki S", "evidence": [ { "database": "UniProtKB", "id": "P02766", "url": "https://www.uniprot.org/uniprot/P02766" } ], "reference": [ { "type": "PubMed", "id": "1734866", "url": "https://glygen.org/publication/PubMed/1734866" } ] }, { "title": "A reversible form of lysine acetylation in the ER and Golgi lumen controls the molecular stabilization of BACE1.", "journal": "The Biochemical journal", "date": "2007", "authors": "Costantini C, Ko MH, Jonas MC, Puglielli L", "evidence": [ { "database": "Reactome", "id": "R-HSA-977225", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-977225" } ], "reference": [ { "type": "PubMed", "id": "17425515", "url": "https://glygen.org/publication/PubMed/17425515" } ] }, { "title": "A new transthyretin variant (Glu61Gly) associated with cardiomyopathy.", "journal": "Amyloid : the international journal of experimental and clinical investigation : the official journal of the International Society of Amyloidosis", "date": "2007", "authors": "Rosenzweig M, Skinner M, Prokaeva T, Theberge R, Costello C, Drachman BM, Connors LH", "evidence": [ { "database": "UniProtKB", "id": "P02766", "url": "https://www.uniprot.org/uniprot/P02766" } ], "reference": [ { "type": "PubMed", "id": "17453626", "url": "https://glygen.org/publication/PubMed/17453626" } ] }, { "title": "Genetic microheterogeneity of human transthyretin detected by IEF.", "journal": "Electrophoresis", "date": "2007", "authors": "Altland K, Benson MD, Costello CE, Ferlini A, Hazenberg BP, Hund E, Kristen AV, Linke RP, Merlini G, Salvi F, Saraiva MJ, Singer R, Skinner M, Winter P", "evidence": [ { "database": "UniProtKB", "id": "P02766", "url": "https://www.uniprot.org/uniprot/P02766" } ], "reference": [ { "type": "PubMed", "id": "17503405", "url": "https://glygen.org/publication/PubMed/17503405" } ] }, { "title": "Hydrophobic ligand binding properties of the human lipocalin apolipoprotein M.", "journal": "Journal of lipid research", "date": "2007", "authors": "Ahnstrom J, Faber K, Axler O, Dahlback B", "evidence": [ { "database": "Reactome", "id": "R-HSA-975634", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-975634" } ], "reference": [ { "type": "PubMed", "id": "17525477", "url": "https://glygen.org/publication/PubMed/17525477" } ] }, { "title": "A novel type of familial transthyretin amyloidosis, ATTR Asn124Ser, with co-localization of kappa light chains.", "journal": "Amyloid : the international journal of experimental and clinical investigation : the official journal of the International Society of Amyloidosis", "date": "2007", "authors": "Bergstrom J, Patrosso MC, Colussi G, Salvadore M, Penco S, Lando G, Marocchi A, Ueda A, Nakamura M, Ando Y", "evidence": [ { "database": "UniProtKB", "id": "P02766", "url": "https://www.uniprot.org/uniprot/P02766" } ], "reference": [ { "type": "PubMed", "id": "17577687", "url": "https://glygen.org/publication/PubMed/17577687" } ] }, { "title": "Familial amyloidosis in a large Spanish kindred resulting from a D38V mutation in the transthyretin gene.", "journal": "European journal of clinical investigation", "date": "2007", "authors": "Augustin S, Llige D, Andreu A, Gonzalez A, Genesca J", "evidence": [ { "database": "UniProtKB", "id": "P02766", "url": "https://www.uniprot.org/uniprot/P02766" } ], "reference": [ { "type": "PubMed", "id": "17635579", "url": "https://glygen.org/publication/PubMed/17635579" } ] }, { "title": "Mechanisms of provitamin A (carotenoid) and vitamin A (retinol) transport into and out of intestinal Caco-2 cells.", "journal": "Journal of lipid research", "date": "2007", "authors": "During A, Harrison EH", "evidence": [ { "database": "Reactome", "id": "R-HSA-975634", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-975634" } ], "reference": [ { "type": "PubMed", "id": "17644776", "url": "https://glygen.org/publication/PubMed/17644776" } ] }, { "title": "Identification of novel mutations in patients with Leber congenital amaurosis and juvenile RP by genome-wide homozygosity mapping with SNP microarrays.", "journal": "Investigative ophthalmology & visual science", "date": "2007", "authors": "den Hollander AI, Lopez I, Yzer S, Zonneveld MN, Janssen IM, Strom TM, Hehir-Kwa JY, Veltman JA, Arends ML, Meitinger T, Musarella MA, van den Born LI, Fishman GA, Maumenee IH, Rohrschneider K, Cremers FP, Koenekoop RK", "evidence": [ { "database": "Reactome", "id": "R-HSA-2453864", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2453864" } ], "reference": [ { "type": "PubMed", "id": "18055821", "url": "https://glygen.org/publication/PubMed/18055821" } ] }, { "title": "Ubiquitination of alpha-synuclein by Siah-1 promotes alpha-synuclein aggregation and apoptotic cell death.", "journal": "Human molecular genetics", "date": "2008", "authors": "Lee JT, Wheeler TC, Li L, Chin LS", "evidence": [ { "database": "Reactome", "id": "R-HSA-977225", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-977225" } ], "reference": [ { "type": "PubMed", "id": "18065497", "url": "https://glygen.org/publication/PubMed/18065497" } ] }, { "title": "Monoubiquitylation of alpha-synuclein by seven in absentia homolog (SIAH) promotes its aggregation in dopaminergic cells.", "journal": "The Journal of biological chemistry", "date": "2008", "authors": "Rott R, Szargel R, Haskin J, Shani V, Shainskaya A, Manov I, Liani E, Avraham E, Engelender S", "evidence": [ { "database": "Reactome", "id": "R-HSA-977225", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-977225" } ], "reference": [ { "type": "PubMed", "id": "18070888", "url": "https://glygen.org/publication/PubMed/18070888" } ] }, { "title": "Structural basis for the high all-trans-retinaldehyde reductase activity of the tumor marker AKR1B10.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2007", "authors": "Gallego O, Ruiz FX, Ardevol A, Dominguez M, Alvarez R, de Lera AR, Rovira C, Farres J, Fita I, Pares X", "evidence": [ { "database": "Reactome", "id": "R-HSA-975634", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-975634" } ], "reference": [ { "type": "PubMed", "id": "18087047", "url": "https://glygen.org/publication/PubMed/18087047" } ] }, { "title": "Biochemical and structural evaluation of highly selective 2-arylbenzoxazole-based transthyretin amyloidogenesis inhibitors.", "journal": "J. Med. Chem.", "date": "2008", "authors": "Johnson Steven M, Connelly Stephen, Wilson Ian A, Kelly Jeffery W", "evidence": [ { "database": "UniProtKB", "id": "P02766", "url": "https://www.uniprot.org/uniprot/P02766" } ], "reference": [ { "type": "PubMed", "id": "18095641", "url": "https://glygen.org/publication/PubMed/18095641" } ] }, { "title": "Iodination of salicylic acid improves its binding to transthyretin.", "journal": "Biochim. Biophys. Acta", "date": "2008", "authors": "Gales Lu\u00eds, Almeida Maria Ros\u00e1rio, Arsequell Gemma, Valencia Gregorio, Saraiva Maria Jo\u00e3o, Damas Ana Margarida", "evidence": [ { "database": "UniProtKB", "id": "P02766", "url": "https://www.uniprot.org/uniprot/P02766" } ], "reference": [ { "type": "PubMed", "id": "18155178", "url": "https://glygen.org/publication/PubMed/18155178" } ] }, { "title": "Detection of a gamma-carboxy-glutamate as novel post-translational modification of human transthyretin.", "journal": "Protein and peptide letters", "date": "2008", "authors": "Ruggeberg S, Horn P, Li X, Vajkoczy P, Franz T", "evidence": [ { "database": "UniProtKB", "id": "P02766", "url": "https://www.uniprot.org/uniprot/P02766" } ], "reference": [ { "type": "PubMed", "id": "18221012", "url": "https://glygen.org/publication/PubMed/18221012" } ] }, { "title": "In vitro and in vivo characterization of retinoid synthesis from beta-carotene.", "journal": "Archives of biochemistry and biophysics", "date": "2008", "authors": "Fierce Y, de Morais Vieira M, Piantedosi R, Wyss A, Blaner WS, Paik J", "evidence": [ { "database": "Reactome", "id": "R-HSA-975634", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-975634" } ], "reference": [ { "type": "PubMed", "id": "18295589", "url": "https://glygen.org/publication/PubMed/18295589" } ] }, { "title": "Atrial amyloid deposits in the failing human heart display both atrial and brain natriuretic peptide-like immunoreactivity.", "journal": "The Journal of pathology", "date": "1991", "authors": "Pucci A, Wharton J, Arbustini E, Grasso M, Diegoli M, Needleman P, Vigano M, Polak JM", "evidence": [ { "database": "Reactome", "id": "R-HSA-977225", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-977225" } ], "reference": [ { "type": "PubMed", "id": "1837051", "url": "https://glygen.org/publication/PubMed/1837051" } ] }, { "title": "Leukocyte chemotactic factor 2: A novel renal amyloid protein.", "journal": "Kidney international", "date": "2008", "authors": "Benson MD, James S, Scott K, Liepnieks JJ, Kluve-Beckerman B", "evidence": [ { "database": "Reactome", "id": "R-HSA-977225", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-977225" } ], "reference": [ { "type": "PubMed", "id": "18449172", "url": "https://glygen.org/publication/PubMed/18449172" } ] }, { "title": "The signal peptide anchors apolipoprotein M in plasma lipoproteins and prevents rapid clearance of apolipoprotein M from plasma.", "journal": "The Journal of biological chemistry", "date": "2008", "authors": "Christoffersen C, Ahnstrom J, Axler O, Christensen EI, Dahlback B, Nielsen LB", "evidence": [ { "database": "Reactome", "id": "R-HSA-975634", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-975634" } ], "reference": [ { "type": "PubMed", "id": "18460466", "url": "https://glygen.org/publication/PubMed/18460466" } ] }, { "title": "Odontogenic ameloblast-associated protein nature of the amyloid found in calcifying epithelial odontogenic tumors and unerupted tooth follicles.", "journal": "Amyloid : the international journal of experimental and clinical investigation : the official journal of the International Society of Amyloidosis", "date": "2008", "authors": "Murphy CL, Kestler DP, Foster JS, Wang S, Macy SD, Kennel SJ, Carlson ER, Hudson J, Weiss DT, Solomon A", "evidence": [ { "database": "Reactome", "id": "R-HSA-977225", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-977225" } ], "reference": [ { "type": "PubMed", "id": "18484335", "url": "https://glygen.org/publication/PubMed/18484335" } ] }, { "title": "Gelsolin-related amyloidosis. Identification of the amyloid protein in Finnish hereditary amyloidosis as a fragment of variant gelsolin.", "journal": "The Journal of clinical investigation", "date": "1991", "authors": "Maury CP", "evidence": [ { "database": "Reactome", "id": "R-HSA-977225", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-977225" } ], "reference": [ { "type": "PubMed", "id": "1849145", "url": "https://glygen.org/publication/PubMed/1849145" } ] }, { "title": "Role of the N- and C-terminal domains in binding of apolipoprotein E isoforms to heparan sulfate and dermatan sulfate: a surface plasmon resonance study.", "journal": "Biochemistry", "date": "2008", "authors": "Yamauchi Y, Deguchi N, Takagi C, Tanaka M, Dhanasekaran P, Nakano M, Handa T, Phillips MC, Lund-Katz S, Saito H", "evidence": [ { "database": "Reactome", "id": "R-HSA-975634", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-975634" } ], "reference": [ { "type": "PubMed", "id": "18507396", "url": "https://glygen.org/publication/PubMed/18507396" } ] }, { "title": "Neutral and acid retinyl ester hydrolases associated with rat liver microsomes: relationships to microsomal cholesteryl ester hydrolases.", "journal": "Journal of lipid research", "date": "1991", "authors": "Gad MZ, Harrison EH", "evidence": [ { "database": "Reactome", "id": "R-HSA-975634", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-975634" } ], "reference": [ { "type": "PubMed", "id": "1856611", "url": "https://glygen.org/publication/PubMed/1856611" } ] }, { "title": "Structural insight into pH-induced conformational changes within the native human transthyretin tetramer.", "journal": "J. Mol. Biol.", "date": "2008", "authors": "Palaninathan Satheesh K, Mohamedmohaideen Nilofar N, Snee William C, Kelly Jeffery W, Sacchettini James C", "evidence": [ { "database": "UniProtKB", "id": "P02766", "url": "https://www.uniprot.org/uniprot/P02766" } ], "reference": [ { "type": "PubMed", "id": "18662699", "url": "https://glygen.org/publication/PubMed/18662699" } ] }, { "title": "Biochemical and clinical characterization of prealbuminCHICAGO: an apparently benign variant of serum prealbumin (transthyretin) discovered with high-resolution two-dimensional electrophoresis.", "journal": "American journal of medical genetics", "date": "1991", "authors": "Harrison HH, Gordon ED, Nichols WC, Benson MD", "evidence": [ { "database": "UniProtKB", "id": "P02766", "url": "https://www.uniprot.org/uniprot/P02766" } ], "reference": [ { "type": "PubMed", "id": "1877623", "url": "https://glygen.org/publication/PubMed/1877623" } ] }, { "title": "Toward optimization of the linker substructure common to transthyretin amyloidogenesis inhibitors using biochemical and structural studies.", "journal": "J. Med. Chem.", "date": "2008", "authors": "Johnson Steven M, Connelly Stephen, Wilson Ian A, Kelly Jeffery W", "evidence": [ { "database": "UniProtKB", "id": "P02766", "url": "https://www.uniprot.org/uniprot/P02766" } ], "reference": [ { "type": "PubMed", "id": "18811132", "url": "https://glygen.org/publication/PubMed/18811132" } ] }, { "title": "Two endoplasmic reticulum (ER)/ER Golgi intermediate compartment-based lysine acetyltransferases post-translationally regulate BACE1 levels.", "journal": "The Journal of biological chemistry", "date": "2009", "authors": "Ko MH, Puglielli L", "evidence": [ { "database": "Reactome", "id": "R-HSA-977225", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-977225" } ], "reference": [ { "type": "PubMed", "id": "19011241", "url": "https://glygen.org/publication/PubMed/19011241" } ] }, { "title": "Aldo-keto reductases from the AKR1B subfamily: retinoid specificity and control of cellular retinoic acid levels.", "journal": "Chemico-biological interactions", "date": "2009", "authors": "Ruiz FX, Gallego O, Ardevol A, Moro A, Dominguez M, Alvarez S, Alvarez R, de Lera AR, Rovira C, Fita I, Pares X, Farres J", "evidence": [ { "database": "Reactome", "id": "R-HSA-975634", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-975634" } ], "reference": [ { "type": "PubMed", "id": "19014918", "url": "https://glygen.org/publication/PubMed/19014918" } ] }, { "title": "Structural and mutational analyses of protein-protein interactions between transthyretin and retinol-binding protein.", "journal": "FEBS J.", "date": "2008", "authors": "Zanotti Giuseppe, Folli Claudia, Cendron Laura, Alfieri Beatrice, Nishida Sonia K, Gliubich Francesca, Pasquato Nicola, Negro Alessandro, Berni Rodolfo", "evidence": [ { "database": "UniProtKB", "id": "P02766", "url": "https://www.uniprot.org/uniprot/P02766" } ], "reference": [ { "type": "PubMed", "id": "19021760", "url": "https://glygen.org/publication/PubMed/19021760" } ] }, { "title": "Identification of a novel palmitylation site essential for membrane association and isomerohydrolase activity of RPE65.", "journal": "The Journal of biological chemistry", "date": "2009", "authors": "Takahashi Y, Moiseyev G, Ablonczy Z, Chen Y, Crouch RK, Ma JX", "evidence": [ { "database": "Reactome", "id": "R-HSA-2453902", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2453902" } ], "reference": [ { "type": "PubMed", "id": "19049981", "url": "https://glygen.org/publication/PubMed/19049981" } ] }, { "title": "Formation of cytotoxic transthyretin is not dependent on inter-molecular disulphide bridges commonly found within the amyloid form.", "journal": "Amyloid : the international journal of experimental and clinical investigation : the official journal of the International Society of Amyloidosis", "date": "2008", "authors": "Lindhagen-Persson M, Vestling M, Reixach N, Olofsson A", "evidence": [ { "database": "Entrez", "id": "7276", "url": "https://www.ncbi.nlm.nih.gov/gene/7276" } ], "reference": [ { "type": "PubMed", "id": "19065295", "url": "https://glygen.org/publication/PubMed/19065295" } ] }, { "title": "Retinol saturase promotes adipogenesis and is downregulated in obesity.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2009", "authors": "Schupp M, Lefterova MI, Janke J, Leitner K, Cristancho AG, Mullican SE, Qatanani M, Szwergold N, Steger DJ, Curtin JC, Kim RJ, Suh MJ, Albert MR, Engeli S, Gudas LJ, Lazar MA", "evidence": [ { "database": "Reactome", "id": "R-HSA-975634", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-975634" } ], "reference": [ { "type": "PubMed", "id": "19139408", "url": "https://glygen.org/publication/PubMed/19139408" } ] }, { "title": "Genetic heterogeneity in two consanguineous families segregating early onset retinal degeneration: the pitfalls of homozygosity mapping.", "journal": "American journal of medical genetics. Part A", "date": "2009", "authors": "Benayoun L, Spiegel R, Auslender N, Abbasi AH, Rizel L, Hujeirat Y, Salama I, Garzozi HJ, Allon-Shalev S, Ben-Yosef T", "evidence": [ { "database": "Reactome", "id": "R-HSA-2453864", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2453864" } ], "reference": [ { "type": "PubMed", "id": "19140180", "url": "https://glygen.org/publication/PubMed/19140180" } ] }, { "title": "Cotranslational and posttranslational N-glycosylation of polypeptides by distinct mammalian OST isoforms.", "journal": "Cell", "date": "2009", "authors": "Ruiz-Canada C, Kelleher DJ, Gilmore R", "evidence": [ { "database": "UniProtKB", "id": "P02766", "url": "https://www.uniprot.org/uniprot/P02766#ptm_processing" }, { "database": "UniProtKB", "id": "P02766", "url": "https://www.uniprot.org/uniprot/P02766" } ], "reference": [ { "type": "PubMed", "id": "19167329", "url": "https://glygen.org/publication/PubMed/19167329" } ] }, { "title": "Two novel STRA6 mutations in a patient with anophthalmia and diaphragmatic eventration.", "journal": "American journal of medical genetics. Part A", "date": "2009", "authors": "West B, Bove KE, Slavotinek AM", "evidence": [ { "database": "Reactome", "id": "R-HSA-2453864", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2453864" } ], "reference": [ { "type": "PubMed", "id": "19213032", "url": "https://glygen.org/publication/PubMed/19213032" } ] }, { "title": "The first step in vision: femtosecond isomerization of rhodopsin.", "journal": "Science (New York, N.Y.)", "date": "1991", "authors": "Schoenlein RW, Peteanu LA, Mathies RA, Shank CV", "evidence": [ { "database": "Reactome", "id": "R-HSA-2453902", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2453902" } ], "reference": [ { "type": "PubMed", "id": "1925597", "url": "https://glygen.org/publication/PubMed/1925597" } ] }, { "title": "Involvement of all-trans-retinal in acute light-induced retinopathy of mice.", "journal": "The Journal of biological chemistry", "date": "2009", "authors": "Maeda A, Maeda T, Golczak M, Chou S, Desai A, Hoppel CL, Matsuyama S, Palczewski K", "evidence": [ { "database": "Reactome", "id": "R-HSA-2453864", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2453864" } ], "reference": [ { "type": "PubMed", "id": "19304658", "url": "https://glygen.org/publication/PubMed/19304658" } ] }, { "title": "Phenotypic spectrum of STRA6 mutations: from Matthew-Wood syndrome to non-lethal anophthalmia.", "journal": "Human mutation", "date": "2009", "authors": "Chassaing N, Golzio C, Odent S, Lequeux L, Vigouroux A, Martinovic-Bouriel J, Tiziano FD, Masini L, Piro F, Maragliano G, Delezoide AL, Attie-Bitach T, Manouvrier-Hanu S, Etchevers HC, Calvas P", "evidence": [ { "database": "Reactome", "id": "R-HSA-2453902", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2453902" } ], "reference": [ { "type": "PubMed", "id": "19309693", "url": "https://glygen.org/publication/PubMed/19309693" } ] }, { "title": "A second transthyretin mutation at position 33 (Leu/Phe) associated with familial amyloidotic polyneuropathy.", "journal": "Biochimica et biophysica acta", "date": "1991", "authors": "Harding J, Skare J, Skinner M", "evidence": [ { "database": "UniProtKB", "id": "P02766", "url": "https://www.uniprot.org/uniprot/P02766" } ], "reference": [ { "type": "PubMed", "id": "1932142", "url": "https://glygen.org/publication/PubMed/1932142" } ] }, { "title": "Limited roles of Rdh8, Rdh12, and Abca4 in all-trans-retinal clearance in mouse retina.", "journal": "Investigative ophthalmology & visual science", "date": "2009", "authors": "Maeda A, Golczak M, Maeda T, Palczewski K", "evidence": [ { "database": "Reactome", "id": "R-HSA-2453864", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2453864" } ], "reference": [ { "type": "PubMed", "id": "19553623", "url": "https://glygen.org/publication/PubMed/19553623" } ] }, { "title": "Structural characterization of the conformational change in calbindin-D28k upon calcium binding using differential surface modification analyzed by mass spectrometry.", "journal": "Biochemistry", "date": "2009", "authors": "Hobbs CA, Deterding LJ, Perera L, Bobay BG, Thompson RJ, Darden TA, Cavanagh J, Tomer KB", "evidence": [ { "database": "Reactome", "id": "R-HSA-977225", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-977225" } ], "reference": [ { "type": "PubMed", "id": "19658395", "url": "https://glygen.org/publication/PubMed/19658395" } ] }, { "title": "A point mutation in transthyretin increases affinity for thyroxine and produces euthyroid hyperthyroxinemia.", "journal": "The Journal of clinical investigation", "date": "1990", "authors": "Moses AC, Rosen HN, Moller DE, Tsuzaki S, Haddow JE, Lawlor J, Liepnieks JJ, Nichols WC, Benson MD", "evidence": [ { "database": "UniProtKB", "id": "P02766", "url": "https://www.uniprot.org/uniprot/P02766" } ], "reference": [ { "type": "PubMed", "id": "1979335", "url": "https://glygen.org/publication/PubMed/1979335" } ] }, { "title": "gamma-Secretase: successive tripeptide and tetrapeptide release from the transmembrane domain of beta-carboxyl terminal fragment.", "journal": "The Journal of neuroscience : the official journal of the Society for Neuroscience", "date": "2009", "authors": "Takami M, Nagashima Y, Sano Y, Ishihara S, Morishima-Kawashima M, Funamoto S, Ihara Y", "evidence": [ { "database": "Reactome", "id": "R-HSA-977225", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-977225" } ], "reference": [ { "type": "PubMed", "id": "19828817", "url": "https://glygen.org/publication/PubMed/19828817" } ] }, { "title": "A new transthyretin variant from a patient with familial amyloidotic polyneuropathy has asparagine substituted for histidine at position 90.", "journal": "Clin. Genet.", "date": "1991", "authors": "Skare J C, Milunsky J M, Milunsky A, Skare I B, Cohen A S, Skinner M", "evidence": [ { "database": "UniProtKB", "id": "P02766", "url": "https://www.uniprot.org/uniprot/P02766" } ], "reference": [ { "type": "PubMed", "id": "1997217", "url": "https://glygen.org/publication/PubMed/1997217" } ] }, { "title": "Leber congenital amaurosis: clinical correlations with genotypes, gene therapy trials update, and future directions.", "journal": "Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus", "date": "2009", "authors": "Chung DC, Traboulsi EI", "evidence": [ { "database": "Reactome", "id": "R-HSA-2453864", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2453864" } ], "reference": [ { "type": "PubMed", "id": "20006823", "url": "https://glygen.org/publication/PubMed/20006823" } ] }, { "title": "The transthyretin cDNA sequence is normal in transthyretin-derived senile systemic amyloidosis.", "journal": "FEBS Lett.", "date": "1991", "authors": "Christmanson L, Betsholtz C, Gustavsson A, Johansson B, Sletten K, Westermark P", "evidence": [ { "database": "UniProtKB", "id": "P02766", "url": "https://www.uniprot.org/uniprot/P02766" } ], "reference": [ { "type": "PubMed", "id": "2015890", "url": "https://glygen.org/publication/PubMed/2015890" } ] }, { "title": "Protein-DNA and protein-hormone interactions in prealbumin: a model of the thyroid hormone nuclear receptor?", "journal": "Nature", "date": "1977", "authors": "Blake CC, Oatley SJ", "evidence": [ { "database": "UniProtKB", "id": "P02766", "url": "https://www.uniprot.org/uniprot/P02766" } ], "reference": [ { "type": "PubMed", "id": "201845", "url": "https://glygen.org/publication/PubMed/201845" } ] }, { "title": "Structure and activation of the visual pigment rhodopsin.", "journal": "Annual review of biophysics", "date": "2010", "authors": "Smith SO", "evidence": [ { "database": "Reactome", "id": "R-HSA-2453902", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2453902" } ], "reference": [ { "type": "PubMed", "id": "20192770", "url": "https://glygen.org/publication/PubMed/20192770" } ] }, { "title": "Two-tiered DNA-based diagnosis of transthyretin amyloidosis reveals two novel point mutations.", "journal": "Neurology", "date": "1991", "authors": "Ii S, Minnerath S, Ii K, Dyck PJ, Sommer SS", "evidence": [ { "database": "UniProtKB", "id": "P02766", "url": "https://www.uniprot.org/uniprot/P02766" } ], "reference": [ { "type": "PubMed", "id": "2046936", "url": "https://glygen.org/publication/PubMed/2046936" } ] }, { "title": "X-linked cone dystrophy caused by mutation of the red and green cone opsins.", "journal": "American journal of human genetics", "date": "2010", "authors": "Gardner JC, Webb TR, Kanuga N, Robson AG, Holder GE, Stockman A, Ripamonti C, Ebenezer ND, Ogun O, Devery S, Wright GA, Maher ER, Cheetham ME, Moore AT, Michaelides M, Hardcastle AJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-2453864", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2453864" } ], "reference": [ { "type": "PubMed", "id": "20579627", "url": "https://glygen.org/publication/PubMed/20579627" } ] }, { "title": "ADAM10 is the physiologically relevant, constitutive alpha-secretase of the amyloid precursor protein in primary neurons.", "journal": "The EMBO journal", "date": "2010", "authors": "Kuhn PH, Wang H, Dislich B, Colombo A, Zeitschel U, Ellwart JW, Kremmer E, Rossner S, Lichtenthaler SF", "evidence": [ { "database": "Reactome", "id": "R-HSA-977225", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-977225" } ], "reference": [ { "type": "PubMed", "id": "20676056", "url": "https://glygen.org/publication/PubMed/20676056" } ] }, { "title": "Heparan sulfate proteoglycans in amyloidosis.", "journal": "Progress in molecular biology and translational science", "date": "2010", "authors": "Zhang X, Li JP", "evidence": [ { "database": "Reactome", "id": "R-HSA-977225", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-977225" } ], "reference": [ { "type": "PubMed", "id": "20807650", "url": "https://glygen.org/publication/PubMed/20807650" } ] }, { "title": "A mitochondrial enzyme degrades carotenoids and protects against oxidative stress.", "journal": "FASEB journal : official publication of the Federation of American Societies for Experimental Biology", "date": "2011", "authors": "Amengual J, Lobo GP, Golczak M, Li HN, Klimova T, Hoppel CL, Wyss A, Palczewski K, von Lintig J", "evidence": [ { "database": "Reactome", "id": "R-HSA-975634", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-975634" } ], "reference": [ { "type": "PubMed", "id": "21106934", "url": "https://glygen.org/publication/PubMed/21106934" } ] }, { "title": "Immunoglobulin heavy-chain-associated amyloidosis.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1990", "authors": "Eulitz M, Weiss DT, Solomon A", "evidence": [ { "database": "Reactome", "id": "R-HSA-977225", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-977225" } ], "reference": [ { "type": "PubMed", "id": "2118650", "url": "https://glygen.org/publication/PubMed/2118650" } ] }, { "title": "The Usher 1B protein, MYO7A, is required for normal localization and function of the visual retinoid cycle enzyme, RPE65.", "journal": "Human molecular genetics", "date": "2011", "authors": "Lopes VS, Gibbs D, Libby RT, Aleman TS, Welch DL, Lillo C, Jacobson SG, Radu RA, Steel KP, Williams DS", "evidence": [ { "database": "Reactome", "id": "R-HSA-2453902", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2453902" } ], "reference": [ { "type": "PubMed", "id": "21493626", "url": "https://glygen.org/publication/PubMed/21493626" } ] }, { "title": "A novel variant of transthyretin (Tyr114 to Cys) deduced from the nucleotide sequences of gene fragments from familial amyloidotic polyneuropathy in Japanese sibling cases.", "journal": "Biochemical and biophysical research communications", "date": "1990", "authors": "Ueno S, Uemichi T, Yorifuji S, Tarui S", "evidence": [ { "database": "UniProtKB", "id": "P02766", "url": "https://www.uniprot.org/uniprot/P02766" } ], "reference": [ { "type": "PubMed", "id": "2161654", "url": "https://glygen.org/publication/PubMed/2161654" } ] }, { "title": "Receptor-mediated cellular uptake mechanism that couples to intracellular storage.", "journal": "ACS chemical biology", "date": "2011", "authors": "Kawaguchi R, Yu J, Ter-Stepanian M, Zhong M, Cheng G, Yuan Q, Jin M, Travis GH, Ong D, Sun H", "evidence": [ { "database": "Reactome", "id": "R-HSA-2453902", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2453902" } ], "reference": [ { "type": "PubMed", "id": "21774515", "url": "https://glygen.org/publication/PubMed/21774515" } ] }, { "title": "Retinaldehyde is a substrate for human aldo-keto reductases of the 1C subfamily.", "journal": "The Biochemical journal", "date": "2011", "authors": "Ruiz FX, Porte S, Gallego O, Moro A, Ardevol A, Del Rio-Espinola A, Rovira C, Farres J, Pares X", "evidence": [ { "database": "Reactome", "id": "R-HSA-975634", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-975634" } ], "reference": [ { "type": "PubMed", "id": "21851338", "url": "https://glygen.org/publication/PubMed/21851338" } ] }, { "title": "Islet amyloid polypeptide: pinpointing amino acid residues linked to amyloid fibril formation.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1990", "authors": "Westermark P, Engstrom U, Johnson KH, Westermark GT, Betsholtz C", "evidence": [ { "database": "Reactome", "id": "R-HSA-977225", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-977225" } ], "reference": [ { "type": "PubMed", "id": "2195544", "url": "https://glygen.org/publication/PubMed/2195544" } ] }, { "title": "alpha-Synuclein fate is determined by USP9X-regulated monoubiquitination.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2011", "authors": "Rott R, Szargel R, Haskin J, Bandopadhyay R, Lees AJ, Shani V, Engelender S", "evidence": [ { "database": "Reactome", "id": "R-HSA-977225", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-977225" } ], "reference": [ { "type": "PubMed", "id": "22065755", "url": "https://glygen.org/publication/PubMed/22065755" } ] }, { "title": "Protein monoubiquitination and polyubiquitination generate structural diversity to control distinct biological processes.", "journal": "IUBMB life", "date": "2012", "authors": "Sadowski M, Suryadinata R, Tan AR, Roesley SN, Sarcevic B", "evidence": [ { "database": "Reactome", "id": "R-HSA-977225", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-977225" } ], "reference": [ { "type": "PubMed", "id": "22131221", "url": "https://glygen.org/publication/PubMed/22131221" } ] }, { "title": "Cross talk between signaling and vitamin A transport by the retinol-binding protein receptor STRA6.", "journal": "Molecular and cellular biology", "date": "2012", "authors": "Berry DC, O'Byrne SM, Vreeland AC, Blaner WS, Noy N", "evidence": [ { "database": "Reactome", "id": "R-HSA-2453902", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2453902" } ], "reference": [ { "type": "PubMed", "id": "22665496", "url": "https://glygen.org/publication/PubMed/22665496" } ] }, { "title": "Characterization and comparative structural features of the gene for human interstitial retinol-binding protein.", "journal": "The Journal of biological chemistry", "date": "1990", "authors": "Fong SL, Fong WB, Morris TA, Kedzie KM, Bridges CD", "evidence": [ { "database": "Reactome", "id": "R-HSA-2453902", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2453902" } ], "reference": [ { "type": "PubMed", "id": "2303470", "url": "https://glygen.org/publication/PubMed/2303470" } ] }, { "title": "Delayed diagnosis of transthyretin amyloidosis with a novel mutation (c.210T>A) in the transthyretin gene.", "journal": "Journal of the American Academy of Dermatology", "date": "2013", "authors": "Dekmezian MS, Tschen JA, Cho-Vega JH", "evidence": [ { "database": "UniProtKB", "id": "P02766", "url": "https://www.uniprot.org/uniprot/P02766" } ], "reference": [ { "type": "PubMed", "id": "23317988", "url": "https://glygen.org/publication/PubMed/23317988" } ] }, { "title": "Two novel variants of transthyretin identified in Japanese cases with familial amyloidotic polyneuropathy: transthyretin (Glu42 to Gly) and transthyretin (Ser50 to Arg).", "journal": "Biochemical and biophysical research communications", "date": "1990", "authors": "Ueno S, Uemichi T, Takahashi N, Soga F, Yorifuji S, Tarui S", "evidence": [ { "database": "UniProtKB", "id": "P02766", "url": "https://www.uniprot.org/uniprot/P02766" } ], "reference": [ { "type": "PubMed", "id": "2363717", "url": "https://glygen.org/publication/PubMed/2363717" } ] }, { "title": "Proteome profiling of human neutrophil granule subsets, secretory vesicles, and cell membrane: correlation with transcriptome profiling of neutrophil precursors.", "journal": "Journal of leukocyte biology", "date": "2013", "authors": "Rorvig S, Ostergaard O, Heegaard NH, Borregaard N", "evidence": [ { "database": "Reactome", "id": "R-HSA-6798695", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6798695" } ], "reference": [ { "type": "PubMed", "id": "23650620", "url": "https://glygen.org/publication/PubMed/23650620" } ] }, { "title": "Sorting receptor SORLA--a trafficking path to avoid Alzheimer disease.", "journal": "Journal of cell science", "date": "2013", "authors": "Willnow TE, Andersen OM", "evidence": [ { "database": "Reactome", "id": "R-HSA-977225", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-977225" } ], "reference": [ { "type": "PubMed", "id": "23813966", "url": "https://glygen.org/publication/PubMed/23813966" } ] }, { "title": "Temporal relationship between glycosaminoglycan accumulation and amyloid deposition during experimental amyloidosis. A histochemical study.", "journal": "Laboratory investigation; a journal of technical methods and pathology", "date": "1985", "authors": "Snow AD, Kisilevsky R", "evidence": [ { "database": "Reactome", "id": "R-HSA-977225", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-977225" } ], "reference": [ { "type": "PubMed", "id": "2409350", "url": "https://glygen.org/publication/PubMed/2409350" } ] }, { "title": "Two carotenoid oxygenases contribute to mammalian provitamin A metabolism.", "journal": "The Journal of biological chemistry", "date": "2013", "authors": "Amengual J, Widjaja-Adhi MA, Rodriguez-Santiago S, Hessel S, Golczak M, Palczewski K, von Lintig J", "evidence": [ { "database": "Reactome", "id": "R-HSA-975634", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-975634" } ], "reference": [ { "type": "PubMed", "id": "24106281", "url": "https://glygen.org/publication/PubMed/24106281" } ] }, { "title": "The Role of SORL1 in Alzheimer's Disease.", "journal": "Molecular neurobiology", "date": "2015", "authors": "Yin RH, Yu JT, Tan L", "evidence": [ { "database": "Reactome", "id": "R-HSA-977225", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-977225" } ], "reference": [ { "type": "PubMed", "id": "24833601", "url": "https://glygen.org/publication/PubMed/24833601" } ] }, { "title": "The normal and pathologic roles of the Alzheimer's beta-secretase, BACE1.", "journal": "Current Alzheimer research", "date": "2014", "authors": "Kandalepas PC, Vassar R", "evidence": [ { "database": "Reactome", "id": "R-HSA-977225", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-977225" } ], "reference": [ { "type": "PubMed", "id": "24893886", "url": "https://glygen.org/publication/PubMed/24893886" } ] }, { "title": "Human interstitial retinoid-binding protein. Gene structure and primary structure.", "journal": "The Journal of biological chemistry", "date": "1989", "authors": "Liou GI, Ma DP, Yang YW, Geng L, Zhu C, Baehr W", "evidence": [ { "database": "Reactome", "id": "R-HSA-2453902", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2453902" } ], "reference": [ { "type": "PubMed", "id": "2542268", "url": "https://glygen.org/publication/PubMed/2542268" } ] }, { "title": "Amyloid-beta protein clearance and degradation (ABCD) pathways and their role in Alzheimer's disease.", "journal": "Current Alzheimer research", "date": "2015", "authors": "Baranello RJ, Bharani KL, Padmaraju V, Chopra N, Lahiri DK, Greig NH, Pappolla MA, Sambamurti K", "evidence": [ { "database": "Reactome", "id": "R-HSA-977225", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-977225" } ], "reference": [ { "type": "PubMed", "id": "25523424", "url": "https://glygen.org/publication/PubMed/25523424" } ] }, { "title": "Abeta42 and Abeta40: similarities and differences.", "journal": "Journal of peptide science : an official publication of the European Peptide Society", "date": "2015", "authors": "Qiu T, Liu Q, Chen YX, Zhao YF, Li YM", "evidence": [ { "database": "Reactome", "id": "R-HSA-977225", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-977225" } ], "reference": [ { "type": "PubMed", "id": "26018760", "url": "https://glygen.org/publication/PubMed/26018760" } ] }, { "title": "Loss of calbindin-D28K is associated with the full range of tangle pathology within basal forebrain cholinergic neurons in Alzheimer's disease.", "journal": "Neurobiology of aging", "date": "2015", "authors": "Ahmadian SS, Rezvanian A, Peterson M, Weintraub S, Bigio EH, Mesulam MM, Geula C", "evidence": [ { "database": "Reactome", "id": "R-HSA-977225", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-977225" } ], "reference": [ { "type": "PubMed", "id": "26417681", "url": "https://glygen.org/publication/PubMed/26417681" } ] }, { "title": "TspanC8 Tetraspanins and A Disintegrin and Metalloprotease 10 (ADAM10) Interact via Their Extracellular Regions: EVIDENCE FOR DISTINCT BINDING MECHANISMS FOR DIFFERENT TspanC8 PROTEINS.", "journal": "The Journal of biological chemistry", "date": "2016", "authors": "Noy PJ, Yang J, Reyat JS, Matthews AL, Charlton AE, Furmston J, Rogers DA, Rainger GE, Tomlinson MG", "evidence": [ { "database": "Reactome", "id": "R-HSA-977225", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-977225" } ], "reference": [ { "type": "PubMed", "id": "26668317", "url": "https://glygen.org/publication/PubMed/26668317" } ] }, { "title": "TspanC8 tetraspanins differentially regulate the cleavage of ADAM10 substrates, Notch activation and ADAM10 membrane compartmentalization.", "journal": "Cellular and molecular life sciences : CMLS", "date": "2016", "authors": "Jouannet S, Saint-Pol J, Fernandez L, Nguyen V, Charrin S, Boucheix C, Brou C, Milhiet PE, Rubinstein E", "evidence": [ { "database": "Reactome", "id": "R-HSA-977225", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-977225" } ], "reference": [ { "type": "PubMed", "id": "26686862", "url": "https://glygen.org/publication/PubMed/26686862" } ] }, { "title": "Intracellular sorting pathways of the amyloid precursor protein provide novel neuroprotective strategies.", "journal": "Neural regeneration research", "date": "2015", "authors": "Hermey G", "evidence": [ { "database": "Reactome", "id": "R-HSA-977225", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-977225" } ], "reference": [ { "type": "PubMed", "id": "26807092", "url": "https://glygen.org/publication/PubMed/26807092" } ] }, { "title": "Molecular genetics of human blue cone monochromacy.", "journal": "Science (New York, N.Y.)", "date": "1989", "authors": "Nathans J, Davenport CM, Maumenee IH, Lewis RA, Hejtmancik JF, Litt M, Lovrien E, Weleber R, Bachynski B, Zwas F, et al.", "evidence": [ { "database": "Reactome", "id": "R-HSA-2453864", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2453864" } ], "reference": [ { "type": "PubMed", "id": "2788922", "url": "https://glygen.org/publication/PubMed/2788922" } ] }, { "title": "Hydrolysis of retinyl palmitate by enzymes of rat pancreas and liver. Differentiation of bile salt-dependent and bile salt-independent, neutral retinyl ester hydrolases in rat liver.", "journal": "The Journal of biological chemistry", "date": "1989", "authors": "Harrison EH, Gad MZ", "evidence": [ { "database": "Reactome", "id": "R-HSA-975634", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-975634" } ], "reference": [ { "type": "PubMed", "id": "2793848", "url": "https://glygen.org/publication/PubMed/2793848" } ] }, { "title": "Amyloid fibril protein related to prealbumin in familial amyloidotic polyneuropathy.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1978", "authors": "Costa PP, Figueira AS, Bravo FR", "evidence": [ { "database": "Reactome", "id": "R-HSA-977225", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-977225" } ], "reference": [ { "type": "PubMed", "id": "279930", "url": "https://glygen.org/publication/PubMed/279930" } ] }, { "title": "Identification of a new hereditary amyloidosis prealbumin variant, Tyr-77, and detection of the gene by DNA analysis.", "journal": "The Journal of clinical investigation", "date": "1988", "authors": "Wallace MR, Dwulet FE, Williams EC, Conneally PM, Benson MD", "evidence": [ { "database": "UniProtKB", "id": "P02766", "url": "https://www.uniprot.org/uniprot/P02766" } ], "reference": [ { "type": "PubMed", "id": "2891727", "url": "https://glygen.org/publication/PubMed/2891727" } ] }, { "title": "Mutation in cystatin C gene causes hereditary brain haemorrhage.", "journal": "Lancet (London, England)", "date": "1988", "authors": "Palsdottir A, Abrahamson M, Thorsteinsson L, Arnason A, Olafsson I, Grubb A, Jensson O", "evidence": [ { "database": "Reactome", "id": "R-HSA-977225", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-977225" } ], "reference": [ { "type": "PubMed", "id": "2900981", "url": "https://glygen.org/publication/PubMed/2900981" } ] }, { "title": "Localization of the human prealbumin gene to chromosome 18.", "journal": "Biochem. Biophys. Res. Commun.", "date": "1985", "authors": "Wallace M R, Naylor S L, Kluve-Beckerman B, Long G L, McDonald L, Shows T B, Benson M D", "evidence": [ { "database": "UniProtKB", "id": "P02766", "url": "https://www.uniprot.org/uniprot/P02766" } ], "reference": [ { "type": "PubMed", "id": "2990465", "url": "https://glygen.org/publication/PubMed/2990465" } ] }, { "title": "Structure of the human prealbumin gene.", "journal": "J. Biol. Chem.", "date": "1985", "authors": "Tsuzuki T, Mita S, Maeda S, Araki S, Shimada K", "evidence": [ { "database": "UniProtKB", "id": "P02766", "url": "https://www.uniprot.org/uniprot/P02766" } ], "reference": [ { "type": "PubMed", "id": "2995367", "url": "https://glygen.org/publication/PubMed/2995367" } ] }, { "title": "Structure and expression of the mutant prealbumin gene associated with familial amyloidotic polyneuropathy.", "journal": "Molecular biology & medicine", "date": "1986", "authors": "Maeda S, Mita S, Araki S, Shimada K", "evidence": [ { "database": "UniProtKB", "id": "P02766", "url": "https://www.uniprot.org/uniprot/P02766" } ], "reference": [ { "type": "PubMed", "id": "3022108", "url": "https://glygen.org/publication/PubMed/3022108" } ] }, { "title": "Amyloid fibrils in human insulinoma and islets of Langerhans of the diabetic cat are derived from a neuropeptide-like protein also present in normal islet cells.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1987", "authors": "Westermark P, Wernstedt C, Wilander E, Hayden DW, O'Brien TD, Johnson KH", "evidence": [ { "database": "Reactome", "id": "R-HSA-977225", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-977225" } ], "reference": [ { "type": "PubMed", "id": "3035556", "url": "https://glygen.org/publication/PubMed/3035556" } ] }, { "title": "An islet amyloid peptide is derived from an 89-amino acid precursor by proteolytic processing.", "journal": "The Journal of biological chemistry", "date": "1988", "authors": "Sanke T, Bell GI, Sample C, Rubenstein AH, Steiner DF", "evidence": [ { "database": "Reactome", "id": "R-HSA-977225", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-977225" } ], "reference": [ { "type": "PubMed", "id": "3053705", "url": "https://glygen.org/publication/PubMed/3053705" } ] }, { "title": "Serum levels of beta 2-microglobulin as a new form of amyloid protein in patients undergoing long-term hemodialysis.", "journal": "The New England journal of medicine", "date": "1986", "authors": "Gejyo F, Homma N, Suzuki Y, Arakawa M", "evidence": [ { "database": "Reactome", "id": "R-HSA-977225", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-977225" } ], "reference": [ { "type": "PubMed", "id": "3080684", "url": "https://glygen.org/publication/PubMed/3080684" } ] }, { "title": "Assignment of the human and mouse prion protein genes to homologous chromosomes.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1986", "authors": "Sparkes RS, Simon M, Cohn VH, Fournier RE, Lem J, Klisak I, Heinzmann C, Blatt C, Lucero M, Mohandas T, et al.", "evidence": [ { "database": "Reactome", "id": "R-HSA-977225", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-977225" } ], "reference": [ { "type": "PubMed", "id": "3094007", "url": "https://glygen.org/publication/PubMed/3094007" } ] }, { "title": "Evidence that the amyloid fibril protein in senile systemic amyloidosis is derived from normal prealbumin.", "journal": "Biochemical and biophysical research communications", "date": "1988", "authors": "Cornwell GG 3rd, Sletten K, Johansson B, Westermark P", "evidence": [ { "database": "UniProtKB", "id": "P02766", "url": "https://www.uniprot.org/uniprot/P02766" } ], "reference": [ { "type": "PubMed", "id": "3135807", "url": "https://glygen.org/publication/PubMed/3135807" } ] }, { "title": "Variant apolipoprotein AI as a major constituent of a human hereditary amyloid.", "journal": "Biochemical and biophysical research communications", "date": "1988", "authors": "Nichols WC, Dwulet FE, Liepnieks J, Benson MD", "evidence": [ { "database": "Reactome", "id": "R-HSA-977225", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-977225" } ], "reference": [ { "type": "PubMed", "id": "3142462", "url": "https://glygen.org/publication/PubMed/3142462" } ] }, { "title": "Internal quadruplication in the structure of human interstitial retinol-binding protein deduced from its cloned cDNA.", "journal": "The Journal of biological chemistry", "date": "1988", "authors": "Fong SL, Bridges CD", "evidence": [ { "database": "Reactome", "id": "R-HSA-2453902", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2453902" } ], "reference": [ { "type": "PubMed", "id": "3170584", "url": "https://glygen.org/publication/PubMed/3170584" } ] }, { "title": "Serum amyloid P component is the major calcium-dependent specific DNA binding protein of the serum.", "journal": "Biochemical and biophysical research communications", "date": "1987", "authors": "Pepys MB, Butler PJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-977225", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-977225" } ], "reference": [ { "type": "PubMed", "id": "3675579", "url": "https://glygen.org/publication/PubMed/3675579" } ] }, { "title": "Identification and characterization of a human transthyretin variant.", "journal": "Biochemical and biophysical research communications", "date": "1987", "authors": "Strahler JR, Rosenblum BB, Hanash SM", "evidence": [ { "database": "UniProtKB", "id": "P02766", "url": "https://www.uniprot.org/uniprot/P02766" } ], "reference": [ { "type": "PubMed", "id": "3675594", "url": "https://glygen.org/publication/PubMed/3675594" } ] }, { "title": "Transthyretin: a choroid plexus-specific transport protein in human brain. The 1986 S. Weir Mitchell award.", "journal": "Neurology", "date": "1986", "authors": "Herbert J, Wilcox JN, Pham KT, Fremeau RT Jr, Zeviani M, Dwork A, Soprano DR, Makover A, Goodman DS, Zimmerman EA, et al.", "evidence": [ { "database": "UniProtKB", "id": "P02766", "url": "https://www.uniprot.org/uniprot/P02766" }, { "database": "Reactome", "id": "R-HSA-975634", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-975634" } ], "reference": [ { "type": "PubMed", "id": "3714052", "url": "https://glygen.org/publication/PubMed/3714052" } ] }, { "title": "Biochemical and molecular genetic characterization of a new variant prealbumin associated with hereditary amyloidosis.", "journal": "The Journal of clinical investigation", "date": "1986", "authors": "Wallace MR, Dwulet FE, Conneally PM, Benson MD", "evidence": [ { "database": "UniProtKB", "id": "P02766", "url": "https://www.uniprot.org/uniprot/P02766" } ], "reference": [ { "type": "PubMed", "id": "3722385", "url": "https://glygen.org/publication/PubMed/3722385" } ] }, { "title": "Musculoskeletal manifestations associated with transthyretin-mediated (ATTR) amyloidosis: a systematic review.", "journal": "BMC musculoskeletal disorders", "date": "2023-09-22", "authors": "Aldinc Emre, Campbell Courtney, Gustafsson Finn, Beveridge Abigail, Macey Richard, Marr Laura, Summers Catherine, Zhang Dafang", "evidence": [ { "database": "RefSeq", "id": "NP_000362", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000362" } ], "reference": [ { "type": "PubMed", "id": "37740174", "url": "https://glygen.org/publication/PubMed/37740174" } ] }, { "title": "A 15-year consolidated overview of data in over 6000 patients from the Transthyretin Amyloidosis Outcomes Survey (THAOS).", "journal": "Orphanet journal of rare diseases", "date": "2023-11-10", "authors": "Gentile Luca, Coelho Teresa, Dispenzieri Angela, Concei\u00e7\u00e3o Isabel, Waddington-Cruz M\u00e1rcia, Kristen Arnt, Wixner Jonas, Diemberger Igor, Gonzalez-Moreno Juan, Cariou Eve, Maurer Mathew S, Plant\u00e9-Bordeneuve Violaine, Garcia-Pavia Pablo, Tournev Ivailo, Gonzalez-Costello Jose, Duarte Alejandra Gonzalez, Grogan Martha, Mazzeo Anna, Chapman Doug, Gupta Pritam, Glass Oliver, Amass Leslie,", "evidence": [ { "database": "RefSeq", "id": "NP_000362", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000362" } ], "reference": [ { "type": "PubMed", "id": "37946256", "url": "https://glygen.org/publication/PubMed/37946256" } ] }, { "title": "Common transthyretin-derived amyloid fibril structures in patients with hereditary ATTR amyloidosis.", "journal": "Nature communications", "date": "2023-11-22", "authors": "Steinebrei Maximilian, Baur Julian, Pradhan Anaviggha, Kupfer Niklas, Wiese Sebastian, Hegenbart Ute, Sch\u00f6nland Stefan O, Schmidt Matthias, F\u00e4ndrich Marcus", "evidence": [ { "database": "RefSeq", "id": "NP_000362", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000362" } ], "reference": [ { "type": "PubMed", "id": "37993462", "url": "https://glygen.org/publication/PubMed/37993462" } ] }, { "title": "Characterization of the G-quadruplexes in the transthyretin gene and its role in silencing transthyretin mRNA transcription.", "journal": "Bioorganic & medicinal chemistry letters", "date": "2024-01-01", "authors": "Huang Peimin, Li Xu, Tan Zhonghan, Wang Yuqing, Yan Jinwu", "evidence": [ { "database": "RefSeq", "id": "NP_000362", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000362" } ], "reference": [ { "type": "PubMed", "id": "38008337", "url": "https://glygen.org/publication/PubMed/38008337" } ] }, { "title": "Position statement on the non-invasive diagnosis of patients with ATTR pardiac amyloidosis, endorsed by the Hellenic Society of Nuclear Cardiology, for the Nuclear Medicine practitioners.", "journal": "Hellenic journal of nuclear medicine", "date": "2023", "authors": "Koutelou M, Prassopoulos V, Lamprakos L, Zissimopoulos A, Chatzipanagiotou T, Mastorakou A, Doumas A", "evidence": [ { "database": "RefSeq", "id": "NP_000362", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000362" } ], "reference": [ { "type": "PubMed", "id": "38085831", "url": "https://glygen.org/publication/PubMed/38085831" } ] }, { "title": "Analyses of prealbumin mRNAs in individuals with familial amyloidotic polyneuropathy.", "journal": "Journal of biochemistry", "date": "1986", "authors": "Mita S, Maeda S, Shimada K, Araki S", "evidence": [ { "database": "UniProtKB", "id": "P02766", "url": "https://www.uniprot.org/uniprot/P02766" } ], "reference": [ { "type": "PubMed", "id": "3818577", "url": "https://glygen.org/publication/PubMed/3818577" } ] }, { "title": "The genetics of tritan disturbances.", "journal": "Human genetics", "date": "1985", "authors": "Went LN, Pronk N", "evidence": [ { "database": "Reactome", "id": "R-HSA-2453864", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2453864" } ], "reference": [ { "type": "PubMed", "id": "3872255", "url": "https://glygen.org/publication/PubMed/3872255" } ] }, { "title": "Comparison of apolipoprotein C-II-deficient triacylglycerol-rich lipoproteins and trioleoylglycerol/phosphatidylcholine-stabilized particles as substrates for lipoprotein lipase.", "journal": "Biochimica et biophysica acta", "date": "1986", "authors": "Jackson RL, Tajima S, Yamamura T, Yokoyama S, Yamamoto A", "evidence": [ { "database": "Reactome", "id": "R-HSA-975634", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-975634" } ], "reference": [ { "type": "PubMed", "id": "3942763", "url": "https://glygen.org/publication/PubMed/3942763" } ] }, { "title": "Demonstration of transthyretin mRNA in the brain and other extrahepatic tissues in the rat.", "journal": "J. Biol. Chem.", "date": "1985", "authors": "Soprano D R, Herbert J, Soprano K J, Schon E A, Goodman D S", "evidence": [ { "database": "UniProtKB", "id": "P02766", "url": "https://www.uniprot.org/uniprot/P02766" } ], "reference": [ { "type": "PubMed", "id": "4044580", "url": "https://glygen.org/publication/PubMed/4044580" } ] }, { "title": "Structure of the chromosomal gene for human serum prealbumin.", "journal": "Gene", "date": "1985", "authors": "Sasaki H, Yoshioka N, Takagi Y, Sakaki Y", "evidence": [ { "database": "UniProtKB", "id": "P02766", "url": "https://www.uniprot.org/uniprot/P02766" } ], "reference": [ { "type": "PubMed", "id": "4054629", "url": "https://glygen.org/publication/PubMed/4054629" } ] }, { "title": "Structure of human plasma prealbumin at 2.5-A resolution. A preliminary report on the polypeptide chain conformation, quaternary structure and thyroxine binding.", "journal": "J. Mol. Biol.", "date": "1974", "authors": "Blake C C, Geisow M J, Swan I D, Rerat C, Rerat B", "evidence": [ { "database": "UniProtKB", "id": "P02766", "url": "https://www.uniprot.org/uniprot/P02766" } ], "reference": [ { "type": "PubMed", "id": "4216640", "url": "https://glygen.org/publication/PubMed/4216640" } ] }, { "title": "Interchange of apolipoproteins between chylomicrons and high density lipoproteins during alimentary lipemia in man.", "journal": "The Journal of clinical investigation", "date": "1973", "authors": "Havel RJ, Kane JP, Kashyap ML", "evidence": [ { "database": "Reactome", "id": "R-HSA-975634", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-975634" } ], "reference": [ { "type": "PubMed", "id": "4345202", "url": "https://glygen.org/publication/PubMed/4345202" } ] }, { "title": "The amino acid sequence of human plasma prealbumin.", "journal": "J. Biol. Chem.", "date": "1974", "authors": "Kanda Y, Goodman D S, Canfield R E, Morgan F J", "evidence": [ { "database": "UniProtKB", "id": "P02766", "url": "https://www.uniprot.org/uniprot/P02766" } ], "reference": [ { "type": "PubMed", "id": "4607556", "url": "https://glygen.org/publication/PubMed/4607556" } ] }, { "title": "Inhibition of lipoprotein lipase by an apoprotein of human very low density lipoprotein.", "journal": "Biochemical and biophysical research communications", "date": "1972", "authors": "Brown WV, Baginsky ML", "evidence": [ { "database": "Reactome", "id": "R-HSA-975634", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-975634" } ], "reference": [ { "type": "PubMed", "id": "5057882", "url": "https://glygen.org/publication/PubMed/5057882" } ] }, { "title": "The photosensitivities of visual pigments in the presence of hydroxylamine.", "journal": "Vision research", "date": "1968", "authors": "Dartnall HJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-2453902", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2453902" } ], "reference": [ { "type": "PubMed", "id": "5315589", "url": "https://glygen.org/publication/PubMed/5315589" } ] }, { "title": "Retinol-binding protein: the transport protein for vitamin A in human plasma.", "journal": "The Journal of clinical investigation", "date": "1968", "authors": "Kanai M, Raz A, Goodman DS", "evidence": [ { "database": "Reactome", "id": "R-HSA-975634", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-975634" } ], "reference": [ { "type": "PubMed", "id": "5675424", "url": "https://glygen.org/publication/PubMed/5675424" } ] }, { "title": "Cloning and sequence analysis of cDNA for human prealbumin.", "journal": "Biochem. Biophys. Res. Commun.", "date": "1984", "authors": "Mita S, Maeda S, Shimada K, Araki S", "evidence": [ { "database": "UniProtKB", "id": "P02766", "url": "https://www.uniprot.org/uniprot/P02766" } ], "reference": [ { "type": "PubMed", "id": "6093805", "url": "https://glygen.org/publication/PubMed/6093805" } ] }, { "title": "Complex formation between metarhodopsin II and GTP-binding protein in bovine photoreceptor membranes leads to a shift of the photoproduct equilibrium.", "journal": "FEBS letters", "date": "1982", "authors": "Emeis D, Kuhn H, Reichert J, Hofmann KP", "evidence": [ { "database": "Reactome", "id": "R-HSA-2453902", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2453902" } ], "reference": [ { "type": "PubMed", "id": "6288450", "url": "https://glygen.org/publication/PubMed/6288450" } ] }, { "title": "Primary structure of an amyloid prealbumin variant in familial polyneuropathy of Jewish origin.", "journal": "Proc. Natl. Acad. Sci. U.S.A.", "date": "1983", "authors": "Pras M, Prelli F, Franklin E C, Frangione B", "evidence": [ { "database": "UniProtKB", "id": "P02766", "url": "https://www.uniprot.org/uniprot/P02766" } ], "reference": [ { "type": "PubMed", "id": "6300852", "url": "https://glygen.org/publication/PubMed/6300852" } ] }, { "title": "The structure of bovine rhodopsin.", "journal": "Biophysics of structure and mechanism", "date": "1983", "authors": "Hargrave PA, McDowell JH, Curtis DR, Wang JK, Juszczak E, Fong SL, Rao JK, Argos P", "evidence": [ { "database": "Reactome", "id": "R-HSA-2453902", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2453902" } ], "reference": [ { "type": "PubMed", "id": "6342691", "url": "https://glygen.org/publication/PubMed/6342691" } ] }, { "title": "Newly administered [3H]retinol is transferred from hepatocytes to stellate cells in liver for storage.", "journal": "Experimental cell research", "date": "1984", "authors": "Blomhoff R, Holte K, Naess L, Berg T", "evidence": [ { "database": "Reactome", "id": "R-HSA-975634", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-975634" } ], "reference": [ { "type": "PubMed", "id": "6420172", "url": "https://glygen.org/publication/PubMed/6420172" } ] }, { "title": "Revised analysis of amino acid replacement in a prealbumin variant (SKO-III) associated with familial amyloidotic polyneuropathy of Jewish origin.", "journal": "Biochemical and biophysical research communications", "date": "1984", "authors": "Nakazato M, Kangawa K, Minamino N, Tawara S, Matsuo H, Araki S", "evidence": [ { "database": "UniProtKB", "id": "P02766", "url": "https://www.uniprot.org/uniprot/P02766" } ], "reference": [ { "type": "PubMed", "id": "6487335", "url": "https://glygen.org/publication/PubMed/6487335" } ] }, { "title": "The photocurrent, noise and spectral sensitivity of rods of the monkey Macaca fascicularis.", "journal": "The Journal of physiology", "date": "1984", "authors": "Baylor DA, Nunn BJ, Schnapf JL", "evidence": [ { "database": "Reactome", "id": "R-HSA-2453902", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2453902" } ], "reference": [ { "type": "PubMed", "id": "6512705", "url": "https://glygen.org/publication/PubMed/6512705" } ] }, { "title": "Primary structure of an amyloid prealbumin and its plasma precursor in a heredofamilial polyneuropathy of Swedish origin.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1984", "authors": "Dwulet FE, Benson MD", "evidence": [ { "database": "UniProtKB", "id": "P02766", "url": "https://www.uniprot.org/uniprot/P02766" } ], "reference": [ { "type": "PubMed", "id": "6583672", "url": "https://glygen.org/publication/PubMed/6583672" } ] }, { "title": "Isolation and nucleotide sequence of the gene encoding human rhodopsin.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1984", "authors": "Nathans J, Hogness DS", "evidence": [ { "database": "Reactome", "id": "R-HSA-2453902", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2453902" } ], "reference": [ { "type": "PubMed", "id": "6589631", "url": "https://glygen.org/publication/PubMed/6589631" } ] }, { "title": "Identification of amyloid prealbumin variant in familial amyloidotic polyneuropathy (Japanese type).", "journal": "Biochemical and biophysical research communications", "date": "1983", "authors": "Tawara S, Nakazato M, Kangawa K, Matsuo H, Araki S", "evidence": [ { "database": "UniProtKB", "id": "P02766", "url": "https://www.uniprot.org/uniprot/P02766" } ], "reference": [ { "type": "PubMed", "id": "6651852", "url": "https://glygen.org/publication/PubMed/6651852" } ] }, { "title": "[Visual rhodopsin. III. Complete amino acid sequence and topography in a membrane].", "journal": "Bioorganicheskaia khimiia", "date": "1983", "authors": "Ovchinnikov IuA, Abdulaev NG, Feigina MIu, Artamonov ID, Bogachuk AS", "evidence": [ { "database": "Reactome", "id": "R-HSA-2453902", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2453902" } ], "reference": [ { "type": "PubMed", "id": "6679757", "url": "https://glygen.org/publication/PubMed/6679757" } ] }, { "title": "Structure of prealbumin: secondary, tertiary and quaternary interactions determined by Fourier refinement at 1.8 A.", "journal": "J. Mol. Biol.", "date": "1978", "authors": "Blake CC, Geisow MJ, Oatley SJ, Rerat B, Rerat C", "evidence": [ { "database": "UniProtKB", "id": "P02766", "url": "https://www.uniprot.org/uniprot/P02766" } ], "reference": [ { "type": "PubMed", "id": "671542", "url": "https://glygen.org/publication/PubMed/671542" } ] }, { "title": "In vivo uptake of chylomicron [3H]retinyl ester by rat liver: evidence for retinol transfer from parenchymal to nonparenchymal cells.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1982", "authors": "Blomhoff R, Helgerud P, Rasmussen M, Berg T, Norum KR", "evidence": [ { "database": "Reactome", "id": "R-HSA-975634", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-975634" } ], "reference": [ { "type": "PubMed", "id": "6961410", "url": "https://glygen.org/publication/PubMed/6961410" } ] }, { "title": "Amyloid fibril composition and transthyretin gene structure in senile systemic amyloidosis.", "journal": "Lab. Invest.", "date": "1995", "authors": "Gustavsson A, Jahr H, Tobiassen R, Jacobson D R, Sletten K, Westermark P", "evidence": [ { "database": "UniProtKB", "id": "P02766", "url": "https://www.uniprot.org/uniprot/P02766" } ], "reference": [ { "type": "PubMed", "id": "7474944", "url": "https://glygen.org/publication/PubMed/7474944" } ] }, { "title": "Transthyretin mutations in health and disease.", "journal": "Hum. Mutat.", "date": "1995", "authors": "Saraiva M J", "evidence": [ { "database": "UniProtKB", "id": "P02766", "url": "https://www.uniprot.org/uniprot/P02766" } ], "reference": [ { "type": "PubMed", "id": "7599630", "url": "https://glygen.org/publication/PubMed/7599630" } ] }, { "title": "Transthyretin gene analysis in European patients with suspected familial amyloid polyneuropathy.", "journal": "Brain : a journal of neurology", "date": "1995", "authors": "Reilly MM, Adams D, Booth DR, Davis MB, Said G, Laubriat-Bianchin M, Pepys MB, Thomas PK, Harding AE", "evidence": [ { "database": "UniProtKB", "id": "P02766", "url": "https://www.uniprot.org/uniprot/P02766" } ], "reference": [ { "type": "PubMed", "id": "7655883", "url": "https://glygen.org/publication/PubMed/7655883" } ] }, { "title": "Role of heparan sulfate proteoglycans in the binding and uptake of apolipoprotein E-enriched remnant lipoproteins by cultured cells.", "journal": "The Journal of biological chemistry", "date": "1993", "authors": "Ji ZS, Brecht WJ, Miranda RD, Hussain MM, Innerarity TL, Mahley RW", "evidence": [ { "database": "Reactome", "id": "R-HSA-975634", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-975634" } ], "reference": [ { "type": "PubMed", "id": "7683668", "url": "https://glygen.org/publication/PubMed/7683668" } ] }, { "title": "Structure of a complex of two plasma proteins: transthyretin and retinol-binding protein.", "journal": "Science", "date": "1995", "authors": "Monaco H L, Rizzi M, Coda A", "evidence": [ { "database": "UniProtKB", "id": "P02766", "url": "https://www.uniprot.org/uniprot/P02766" } ], "reference": [ { "type": "PubMed", "id": "7754382", "url": "https://glygen.org/publication/PubMed/7754382" } ] }, { "title": "A novel variant of transthyretin, 59Thr-->Lys, associated with autosomal dominant cardiac amyloidosis in an Italian family.", "journal": "Circulation", "date": "1995", "authors": "Booth DR, Tan SY, Hawkins PN, Pepys MB, Frustaci A", "evidence": [ { "database": "UniProtKB", "id": "P02766", "url": "https://www.uniprot.org/uniprot/P02766" } ], "reference": [ { "type": "PubMed", "id": "7850982", "url": "https://glygen.org/publication/PubMed/7850982" } ] }, { "title": "Familial amyloid polyneuropathy in Taiwan: identification of transthyretin variant (Leu55-->Pro).", "journal": "Muscle & nerve", "date": "1994", "authors": "Yamamoto K, Hsu SP, Yoshida K, Ikeda S, Nakazato M, Shiomi K, Cheng SY, Furihata K, Ueno I, Yanagisawa N", "evidence": [ { "database": "UniProtKB", "id": "P02766", "url": "https://www.uniprot.org/uniprot/P02766" } ], "reference": [ { "type": "PubMed", "id": "7910950", "url": "https://glygen.org/publication/PubMed/7910950" } ] }, { "title": "Amyloid polyneuropathy in two German-American families: a new transthyretin variant (Val 107).", "journal": "Journal of medical genetics", "date": "1994", "authors": "Uemichi T, Gertz MA, Benson MD", "evidence": [ { "database": "UniProtKB", "id": "P02766", "url": "https://www.uniprot.org/uniprot/P02766" } ], "reference": [ { "type": "PubMed", "id": "7914929", "url": "https://glygen.org/publication/PubMed/7914929" } ] }, { "title": "Two transthyretin mutations (glu42gly, his90asn) in an Italian family with amyloidosis.", "journal": "Clinical genetics", "date": "1994", "authors": "Skare J, Jones LA, Myles N, Kane K, Milunsky A, Cohen A, Skinner M", "evidence": [ { "database": "UniProtKB", "id": "P02766", "url": "https://www.uniprot.org/uniprot/P02766" } ], "reference": [ { "type": "PubMed", "id": "7923855", "url": "https://glygen.org/publication/PubMed/7923855" } ] }, { "title": "Molecular cloning and structural analysis of the human gene encoding cellular retinaldehyde-binding protein.", "journal": "The Journal of biological chemistry", "date": "1994", "authors": "Intres R, Goldflam S, Cook JR, Crabb JW", "evidence": [ { "database": "Reactome", "id": "R-HSA-2453902", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2453902" } ], "reference": [ { "type": "PubMed", "id": "7929238", "url": "https://glygen.org/publication/PubMed/7929238" } ] }, { "title": "Retinyl ester hydrolytic activity associated with human intestinal brush border membranes.", "journal": "The American journal of clinical nutrition", "date": "1994", "authors": "Rigtrup KM, McEwen LR, Said HM, Ong DE", "evidence": [ { "database": "Reactome", "id": "R-HSA-975634", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-975634" } ], "reference": [ { "type": "PubMed", "id": "8017323", "url": "https://glygen.org/publication/PubMed/8017323" } ] }, { "title": "A double-variant transthyretin allele (Ser 6, Ile 33) in the Israeli patient `SKO` with familial amyloidotic polyneuropathy.", "journal": "Human mutation", "date": "1994", "authors": "Jacobson DR, Buxbaum JN", "evidence": [ { "database": "UniProtKB", "id": "P02766", "url": "https://www.uniprot.org/uniprot/P02766" } ], "reference": [ { "type": "PubMed", "id": "8019560", "url": "https://glygen.org/publication/PubMed/8019560" } ] }, { "title": "Binding of pentraxins to different nuclear structures: C-reactive protein binds to small nuclear ribonucleoprotein particles, serum amyloid P component binds to chromatin and nucleoli.", "journal": "Clinical and experimental immunology", "date": "1994", "authors": "Pepys MB, Booth SE, Tennent GA, Butler PJ, Williams DG", "evidence": [ { "database": "Reactome", "id": "R-HSA-977225", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-977225" } ], "reference": [ { "type": "PubMed", "id": "8033412", "url": "https://glygen.org/publication/PubMed/8033412" } ] }, { "title": "Cardiac amyloidosis: a review and report of a new transthyretin (prealbumin) variant.", "journal": "British heart journal", "date": "1993", "authors": "Hesse A, Altland K, Linke RP, Almeida MR, Saraiva MJ, Steinmetz A, Maisch B", "evidence": [ { "database": "UniProtKB", "id": "P02766", "url": "https://www.uniprot.org/uniprot/P02766" } ], "reference": [ { "type": "PubMed", "id": "8038017", "url": "https://glygen.org/publication/PubMed/8038017" } ] }, { "title": "Transthyretin VAL107, a new variant associated with familial cardiac and neuropathic amyloidosis.", "journal": "Human mutation", "date": "1994", "authors": "Jacobson DR, Gertz MA, Buxbaum JN", "evidence": [ { "database": "UniProtKB", "id": "P02766", "url": "https://www.uniprot.org/uniprot/P02766" } ], "reference": [ { "type": "PubMed", "id": "8081397", "url": "https://glygen.org/publication/PubMed/8081397" } ] }, { "title": "The Ile-84-->Ser amino acid substitution in transthyretin interferes with the interaction with plasma retinol-binding protein.", "journal": "The Journal of biological chemistry", "date": "1994", "authors": "Berni R, Malpeli G, Folli C, Murrell JR, Liepnieks JJ, Benson MD", "evidence": [ { "database": "UniProtKB", "id": "P02766", "url": "https://www.uniprot.org/uniprot/P02766" } ], "reference": [ { "type": "PubMed", "id": "8089102", "url": "https://glygen.org/publication/PubMed/8089102" } ] }, { "title": "A transthyretin variant (alanine 71) associated with familial amyloidotic polyneuropathy in a French family.", "journal": "Journal of medical genetics", "date": "1993", "authors": "Benson MD 2nd, Turpin JC, Lucotte G, Zeldenrust S, LeChevalier B, Benson MD", "evidence": [ { "database": "UniProtKB", "id": "P02766", "url": "https://www.uniprot.org/uniprot/P02766" } ], "reference": [ { "type": "PubMed", "id": "8095302", "url": "https://glygen.org/publication/PubMed/8095302" } ] }, { "title": "Hereditary renal amyloidosis associated with a mutant fibrinogen alpha-chain.", "journal": "Nature genetics", "date": "1993", "authors": "Benson MD, Liepnieks J, Uemichi T, Wheeler G, Correa R", "evidence": [ { "database": "Reactome", "id": "R-HSA-977225", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-977225" } ], "reference": [ { "type": "PubMed", "id": "8097946", "url": "https://glygen.org/publication/PubMed/8097946" } ] }, { "title": "Localization of the retinal protonated Schiff base counterion in rhodopsin.", "journal": "Biophysical journal", "date": "1993", "authors": "Han M, DeDecker BS, Smith SO", "evidence": [ { "database": "Reactome", "id": "R-HSA-2453902", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2453902" } ], "reference": [ { "type": "PubMed", "id": "8105993", "url": "https://glygen.org/publication/PubMed/8105993" } ] }, { "title": "Structure of pentameric human serum amyloid P component.", "journal": "Nature", "date": "1994", "authors": "Emsley J, White HE, O'Hara BP, Oliva G, Srinivasan N, Tickle IJ, Blundell TL, Pepys MB, Wood SP", "evidence": [ { "database": "Reactome", "id": "R-HSA-977225", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-977225" } ], "reference": [ { "type": "PubMed", "id": "8114934", "url": "https://glygen.org/publication/PubMed/8114934" } ] }, { "title": "Familial amyloidotic polyneuropathy with late-onset and well-preserved autonomic function: a Japanese kindred with novel mutant transthyretin (Ala97 to Gly).", "journal": "Journal of the neurological sciences", "date": "1994", "authors": "Yasuda T, Sobue G, Doyu M, Nakazato M, Shiomi K, Yanagi T, Mitsuma T", "evidence": [ { "database": "UniProtKB", "id": "P02766", "url": "https://www.uniprot.org/uniprot/P02766" } ], "reference": [ { "type": "PubMed", "id": "8133316", "url": "https://glygen.org/publication/PubMed/8133316" } ] }, { "title": "Pathogenic potential of human monoclonal immunoglobulin light chains: relationship of in vitro aggregation to in vivo organ deposition.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1994", "authors": "Myatt EA, Westholm FA, Weiss DT, Solomon A, Schiffer M, Stevens FJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-977225", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-977225" } ], "reference": [ { "type": "PubMed", "id": "8159701", "url": "https://glygen.org/publication/PubMed/8159701" } ] }, { "title": "Genetic heterogeneity among blue-cone monochromats.", "journal": "American journal of human genetics", "date": "1993", "authors": "Nathans J, Maumenee IH, Zrenner E, Sadowski B, Sharpe LT, Lewis RA, Hansen E, Rosenberg T, Schwartz M, Heckenlively JR, et al.", "evidence": [ { "database": "Reactome", "id": "R-HSA-2453864", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2453864" } ], "reference": [ { "type": "PubMed", "id": "8213841", "url": "https://glygen.org/publication/PubMed/8213841" } ] }, { "title": "Transthyretin ALA 71: a new transthyretin variant in a Spanish family with familial amyloidotic polyneuropathy.", "journal": "Human mutation", "date": "1993", "authors": "Almeida Mdo R, Lopez-Andreu F, Munar-Ques M, Costa PP, Saraiva MJ", "evidence": [ { "database": "UniProtKB", "id": "P02766", "url": "https://www.uniprot.org/uniprot/P02766" } ], "reference": [ { "type": "PubMed", "id": "8257997", "url": "https://glygen.org/publication/PubMed/8257997" } ] }, { "title": "Familial carpal tunnel syndrome due to amyloidogenic transthyretin His 114 variant.", "journal": "Neurology", "date": "1994", "authors": "Murakami T, Tachibana S, Endo Y, Kawai R, Hara M, Tanase S, Ando M", "evidence": [ { "database": "UniProtKB", "id": "P02766", "url": "https://www.uniprot.org/uniprot/P02766" } ], "reference": [ { "type": "PubMed", "id": "8309582", "url": "https://glygen.org/publication/PubMed/8309582" } ] }, { "title": "A basic transthyretin variant (Glu61-->Lys) causes familial amyloidotic polyneuropathy: protein and DNA sequencing and PCR-induced mutation restriction analysis.", "journal": "Biochemical and biophysical research communications", "date": "1993", "authors": "Shiomi K, Nakazato M, Matsukura S, Ohnishi A, Hatanaka H, Tsuji S, Murai Y, Kojima M, Kangawa K, Matsuo H", "evidence": [ { "database": "UniProtKB", "id": "P02766", "url": "https://www.uniprot.org/uniprot/P02766" } ], "reference": [ { "type": "PubMed", "id": "8352764", "url": "https://glygen.org/publication/PubMed/8352764" } ] }, { "title": "Structure of Met30 variant of transthyretin and its amyloidogenic implications.", "journal": "The EMBO journal", "date": "1993", "authors": "Terry CJ, Damas AM, Oliveira P, Saraiva MJ, Alves IL, Costa PP, Matias PM, Sakaki Y, Blake CC", "evidence": [ { "database": "UniProtKB", "id": "P02766", "url": "https://www.uniprot.org/uniprot/P02766" } ], "reference": [ { "type": "PubMed", "id": "8382610", "url": "https://glygen.org/publication/PubMed/8382610" } ] }, { "title": "Disruption of the transthyretin gene results in mice with depressed levels of plasma retinol and thyroid hormone.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1993", "authors": "Episkopou V, Maeda S, Nishiguchi S, Shimada K, Gaitanaris GA, Gottesman ME, Robertson EJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-975634", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-975634" } ], "reference": [ { "type": "PubMed", "id": "8384721", "url": "https://glygen.org/publication/PubMed/8384721" } ] }, { "title": "The x-ray crystal structure refinements of normal human transthyretin and the amyloidogenic Val-30-->Met variant to 1.7-A resolution.", "journal": "The Journal of biological chemistry", "date": "1993", "authors": "Hamilton JA, Steinrauf LK, Braden BC, Liepnieks J, Benson MD, Holmgren G, Sandgren O, Steen L", "evidence": [ { "database": "UniProtKB", "id": "P02766", "url": "https://www.uniprot.org/uniprot/P02766" } ], "reference": [ { "type": "PubMed", "id": "8428915", "url": "https://glygen.org/publication/PubMed/8428915" } ] }, { "title": "Human lysozyme gene mutations cause hereditary systemic amyloidosis.", "journal": "Nature", "date": "1993", "authors": "Pepys MB, Hawkins PN, Booth DR, Vigushin DM, Tennent GA, Soutar AK, Totty N, Nguyen O, Blake CC, Terry CJ, et al.", "evidence": [ { "database": "Reactome", "id": "R-HSA-977225", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-977225" } ], "reference": [ { "type": "PubMed", "id": "8464497", "url": "https://glygen.org/publication/PubMed/8464497" } ] }, { "title": "The carboxy terminus of the beta amyloid protein is critical for the seeding of amyloid formation: implications for the pathogenesis of Alzheimer's disease.", "journal": "Biochemistry", "date": "1993", "authors": "Jarrett JT, Berger EP, Lansbury PT Jr", "evidence": [ { "database": "Reactome", "id": "R-HSA-977225", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-977225" } ], "reference": [ { "type": "PubMed", "id": "8490014", "url": "https://glygen.org/publication/PubMed/8490014" } ] }, { "title": "Meningocerebrovascular amyloidosis associated with a novel transthyretin mis-sense mutation at codon 18 (TTRD 18G)", "journal": "The American journal of pathology", "date": "1996", "authors": "Vidal R, Garzuly F, Budka H, Lalowski M, Linke RP, Brittig F, Frangione B, Wisniewski T", "evidence": [ { "database": "UniProtKB", "id": "P02766", "url": "https://www.uniprot.org/uniprot/P02766" } ], "reference": [ { "type": "PubMed", "id": "8579098", "url": "https://glygen.org/publication/PubMed/8579098" } ] }, { "title": "Gene conversion between red and defective green opsin gene in blue cone monochromacy.", "journal": "Genomics", "date": "1995", "authors": "Reyniers E, Van Thienen MN, Meire F, De Boulle K, Devries K, Kestelijn P, Willems PJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-2453864", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2453864" } ], "reference": [ { "type": "PubMed", "id": "8666378", "url": "https://glygen.org/publication/PubMed/8666378" } ] }, { "title": "Targeting of proteins to granule subsets is determined by timing and not by sorting: The specific granule protein NGAL is localized to azurophil granules when expressed in HL-60 cells.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1996", "authors": "Le Cabec V, Cowland JB, Calafat J, Borregaard N", "evidence": [ { "database": "Reactome", "id": "R-HSA-6798695", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6798695" } ], "reference": [ { "type": "PubMed", "id": "8692836", "url": "https://glygen.org/publication/PubMed/8692836" } ] }, { "title": "Lipoprotein lipase-mediated uptake of lipoprotein in human fibroblasts: evidence for an LDL receptor-independent internalization pathway.", "journal": "Journal of lipid research", "date": "1996", "authors": "Fernandez-Borja M, Bellido D, Vilella E, Olivecrona G, Vilaro S", "evidence": [ { "database": "Reactome", "id": "R-HSA-975634", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-975634" } ], "reference": [ { "type": "PubMed", "id": "8728311", "url": "https://glygen.org/publication/PubMed/8728311" } ] }, { "title": "Localized amyloidosis of the seminal vesicle: identification of lactoferrin immunoreactivity in the amyloid material.", "journal": "Pathology international", "date": "1996", "authors": "Tsutsumi Y, Serizawa A, Hori S", "evidence": [ { "database": "Reactome", "id": "R-HSA-977225", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-977225" } ], "reference": [ { "type": "PubMed", "id": "8870004", "url": "https://glygen.org/publication/PubMed/8870004" } ] }, { "title": "Primary structure of human 11-cis retinol dehydrogenase and organization and chromosomal localization of the corresponding gene.", "journal": "Genomics", "date": "1996", "authors": "Simon A, Lagercrantz J, Bajalica-Lagercrantz S, Eriksson U", "evidence": [ { "database": "Reactome", "id": "R-HSA-2453902", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2453902" } ], "reference": [ { "type": "PubMed", "id": "8884265", "url": "https://glygen.org/publication/PubMed/8884265" } ] }, { "title": "Transthyretin ILE20, a new variant associated with late-onset cardiac amyloidosis.", "journal": "Human mutation", "date": "1997", "authors": "Jacobson DR, Pan T, Kyle RA, Buxbaum JN", "evidence": [ { "database": "UniProtKB", "id": "P02766", "url": "https://www.uniprot.org/uniprot/P02766" } ], "reference": [ { "type": "PubMed", "id": "8990019", "url": "https://glygen.org/publication/PubMed/8990019" } ] }, { "title": "Prolactin-derived amyloid in the aging pituitary gland.", "journal": "The American journal of pathology", "date": "1997", "authors": "Westermark P, Eriksson L, Engstrom U, Enestrom S, Sletten K", "evidence": [ { "database": "Reactome", "id": "R-HSA-977225", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-977225" } ], "reference": [ { "type": "PubMed", "id": "9006323", "url": "https://glygen.org/publication/PubMed/9006323" } ] }, { "title": "A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy.", "journal": "Nature genetics", "date": "1997", "authors": "Allikmets R, Singh N, Sun H, Shroyer NF, Hutchinson A, Chidambaram A, Gerrard B, Baird L, Stauffer D, Peiffer A, Rattner A, Smallwood P, Li Y, Anderson KL, Lewis RA, Nathans J, Leppert M, Dean M, Lupski JR", "evidence": [ { "database": "Reactome", "id": "R-HSA-2453864", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2453864" } ], "reference": [ { "type": "PubMed", "id": "9054934", "url": "https://glygen.org/publication/PubMed/9054934" } ] }, { "title": "Kerato-epithelin mutations in four 5q31-linked corneal dystrophies.", "journal": "Nature genetics", "date": "1997", "authors": "Munier FL, Korvatska E, Djemai A, Le Paslier D, Zografos L, Pescia G, Schorderet DF", "evidence": [ { "database": "Reactome", "id": "R-HSA-977225", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-977225" } ], "reference": [ { "type": "PubMed", "id": "9054935", "url": "https://glygen.org/publication/PubMed/9054935" } ] }, { "title": "Transthyretin amyloidosis: a new mutation associated with dementia.", "journal": "Annals of neurology", "date": "1997", "authors": "Petersen RB, Goren H, Cohen M, Richardson SL, Tresser N, Lynn A, Gali M, Estes M, Gambetti P", "evidence": [ { "database": "UniProtKB", "id": "P02766", "url": "https://www.uniprot.org/uniprot/P02766" } ], "reference": [ { "type": "PubMed", "id": "9066351", "url": "https://glygen.org/publication/PubMed/9066351" } ] }, { "title": "Mapping of the rod photoreceptor ABC transporter (ABCR) to 1p21-p22.1 and identification of novel mutations in Stargardt's disease.", "journal": "Human genetics", "date": "1998", "authors": "Nasonkin I, Illing M, Koehler MR, Schmid M, Molday RS, Weber BH", "evidence": [ { "database": "Reactome", "id": "R-HSA-2453902", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2453902" } ], "reference": [ { "type": "PubMed", "id": "9490294", "url": "https://glygen.org/publication/PubMed/9490294" } ] }, { "title": "Structural and functional characterization of recombinant human cellular retinaldehyde-binding protein.", "journal": "Protein science : a publication of the Protein Society", "date": "1998", "authors": "Crabb JW, Carlson A, Chen Y, Goldflam S, Intres R, West KA, Hulmes JD, Kapron JT, Luck LA, Horwitz J, Bok D", "evidence": [ { "database": "Reactome", "id": "R-HSA-2453902", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2453902" } ], "reference": [ { "type": "PubMed", "id": "9541407", "url": "https://glygen.org/publication/PubMed/9541407" } ] }, { "title": "Novel transthyretin missense mutation (Thr34) in an Italian family with hereditary amyloidosis.", "journal": "American journal of medical genetics", "date": "1998", "authors": "Patrosso MC, Salvi F, De Grandis D, Vezzoni P, Jacobson DR, Ferlini A", "evidence": [ { "database": "UniProtKB", "id": "P02766", "url": "https://www.uniprot.org/uniprot/P02766" } ], "reference": [ { "type": "PubMed", "id": "9605286", "url": "https://glygen.org/publication/PubMed/9605286" } ] }, { "title": "The discoidin domain receptor tyrosine kinases are activated by collagen.", "journal": "Molecular cell", "date": "1997", "authors": "Vogel W, Gish GD, Alves F, Pawson T", "evidence": [ { "database": "Reactome", "id": "R-HSA-3000171", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3000171" } ], "reference": [ { "type": "PubMed", "id": "9659899", "url": "https://glygen.org/publication/PubMed/9659899" } ] }, { "title": "An orphan receptor tyrosine kinase family whose members serve as nonintegrin collagen receptors.", "journal": "Molecular cell", "date": "1997", "authors": "Shrivastava A, Radziejewski C, Campbell E, Kovac L, McGlynn M, Ryan TE, Davis S, Goldfarb MP, Glass DJ, Lemke G, Yancopoulos GD", "evidence": [ { "database": "Reactome", "id": "R-HSA-3000171", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3000171" } ], "reference": [ { "type": "PubMed", "id": "9659900", "url": "https://glygen.org/publication/PubMed/9659900" } ] }, { "title": "The human photoreceptor rim protein gene (ABCR): genomic structure and primer set information for mutation analysis.", "journal": "Human genetics", "date": "1998", "authors": "Azarian SM, Megarity CF, Weng J, Horvath DH, Travis GH", "evidence": [ { "database": "Reactome", "id": "R-HSA-2453902", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2453902" } ], "reference": [ { "type": "PubMed", "id": "9703434", "url": "https://glygen.org/publication/PubMed/9703434" } ] }, { "title": "The crystal structure of amyloidogenic Leu55 --> Pro transthyretin variant reveals a possible pathway for transthyretin polymerization into amyloid fibrils.", "journal": "The Journal of biological chemistry", "date": "1998", "authors": "Sebastiao MP, Saraiva MJ, Damas AM", "evidence": [ { "database": "UniProtKB", "id": "P02766", "url": "https://www.uniprot.org/uniprot/P02766" } ], "reference": [ { "type": "PubMed", "id": "9733771", "url": "https://glygen.org/publication/PubMed/9733771" } ] }, { "title": "Spectrum of ABCR gene mutations in autosomal recessive macular dystrophies.", "journal": "European journal of human genetics : EJHG", "date": "1998", "authors": "Rozet JM, Gerber S, Souied E, Perrault I, Chatelin S, Ghazi I, Leowski C, Dufier JL, Munnich A, Kaplan J", "evidence": [ { "database": "Reactome", "id": "R-HSA-2453864", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2453864" } ], "reference": [ { "type": "PubMed", "id": "9781034", "url": "https://glygen.org/publication/PubMed/9781034" } ] }, { "title": "Inhibiting transthyretin conformational changes that lead to amyloid fibril formation.", "journal": "Proc. Natl. Acad. Sci. U.S.A.", "date": "1998", "authors": "Peterson S A, Klabunde T, Lashuel H A, Purkey H, Sacchettini J C, Kelly J W", "evidence": [ { "database": "UniProtKB", "id": "P02766", "url": "https://www.uniprot.org/uniprot/P02766" } ], "reference": [ { "type": "PubMed", "id": "9789022", "url": "https://glygen.org/publication/PubMed/9789022" } ] }, { "title": "Tertiary structures of amyloidogenic and non-amyloidogenic transthyretin variants: new model for amyloid fibril formation.", "journal": "Amyloid", "date": "1998", "authors": "Schormann N, Murrell J R, Benson M D", "evidence": [ { "database": "UniProtKB", "id": "P02766", "url": "https://www.uniprot.org/uniprot/P02766" } ], "reference": [ { "type": "PubMed", "id": "9818054", "url": "https://glygen.org/publication/PubMed/9818054" } ] }, { "title": "Transthyretin amyloidosis (serine 44) with headache, hearing loss, and peripheral neuropathy.", "journal": "Neurology", "date": "1998", "authors": "Klein CJ, Nakumura M, Jacobson DR, Lacy MQ, Benson MD, Petersen RC", "evidence": [ { "database": "UniProtKB", "id": "P02766", "url": "https://www.uniprot.org/uniprot/P02766" } ], "reference": [ { "type": "PubMed", "id": "9818883", "url": "https://glygen.org/publication/PubMed/9818883" } ] }, { "title": "Effects of the mutations Ala30 to Pro and Ala53 to Thr on the physical and morphological properties of alpha-synuclein protein implicated in Parkinson's disease.", "journal": "FEBS letters", "date": "1998", "authors": "El-Agnaf OM, Jakes R, Curran MD, Wallace A", "evidence": [ { "database": "Reactome", "id": "R-HSA-977225", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-977225" } ], "reference": [ { "type": "PubMed", "id": "9862427", "url": "https://glygen.org/publication/PubMed/9862427" } ] }, { "title": "Phenotype in retinol deficiency due to a hereditary defect in retinol binding protein synthesis.", "journal": "Investigative ophthalmology & visual science", "date": "1999", "authors": "Seeliger MW, Biesalski HK, Wissinger B, Gollnick H, Gielen S, Frank J, Beck S, Zrenner E", "evidence": [ { "database": "Reactome", "id": "R-HSA-975634", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-975634" } ], "reference": [ { "type": "PubMed", "id": "9888420", "url": "https://glygen.org/publication/PubMed/9888420" } ] }, { "title": "Molecular and biochemical characterization of lecithin retinol acyltransferase.", "journal": "The Journal of biological chemistry", "date": "1999", "authors": "Ruiz A, Winston A, Lim YH, Gilbert BA, Rando RR, Bok D", "evidence": [ { "database": "Reactome", "id": "R-HSA-975634", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-975634" } ], "reference": [ { "type": "PubMed", "id": "9920938", "url": "https://glygen.org/publication/PubMed/9920938" } ] }, { "title": "Retinyl esters are hydrolyzed in early endosomes of J774 macrophages.", "journal": "Journal of lipid research", "date": "1999", "authors": "Hagen E, Myhre AM, Tjelle TE, Berg T, Norum KR", "evidence": [ { "database": "Reactome", "id": "R-HSA-975634", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-975634" } ], "reference": [ { "type": "PubMed", "id": "9925661", "url": "https://glygen.org/publication/PubMed/9925661" } ] } ], "pathway": [ { "id": "hsa:7276", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:7276", "resource": "KEGG Pathway" }, { "id": "R-HSA-2453864", "name": "Retinoid cycle disease events", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2453864", "resource": "Reactome", "description": "Retinoid cycle disease events" }, { "id": "R-HSA-2453902", "name": "The canonical retinoid cycle in rods (twilight vision)", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2453902", "resource": "Reactome", "description": "The canonical retinoid cycle in rods (twilight vision)" }, { "id": "R-HSA-3000171", "name": "Non-integrin membrane-ECM interactions", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3000171", "resource": "Reactome", "description": "Non-integrin membrane-ECM interactions" }, { "id": "R-HSA-6798695", "name": "Neutrophil degranulation", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6798695", "resource": "Reactome", "description": "Neutrophil degranulation" }, { "id": "R-HSA-975634", "name": "Retinoid metabolism and transport", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-975634", "resource": "Reactome", "description": "Retinoid metabolism and transport" }, { "id": "R-HSA-977225", "name": "Amyloid fiber formation", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-977225", "resource": "Reactome", "description": "Amyloid fiber formation" } ], "orthologs": [ { "uniprot_canonical_ac": "P02767-1", "protein_name": "Transthyretin", "gene_name": "Ttr", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "MASLRLFLLCLAGLIFASEAGPGGAGESKCPLMVKVLDAVRGSPAVDVAVKVFKKTADGSWEPFASGKTAESGELHGLTTDEKFTEGVYRVELDTKSYWKALGISPFHEYAEVVFTANDSGHRHYTIAALLSPYSYSTTAVVSNPQN", "length": 147 }, "evidence": [ { "id": "45925688", "url": "http://www.informatics.jax.org/homology/45925688", "database": "MGI" } ], "common_name": "Rat" }, { "uniprot_canonical_ac": "P07309-1", "protein_name": "Transthyretin", "gene_name": "Ttr", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MASLRLFLLCLAGLVFVSEAGPAGAGESKCPLMVKVLDAVRGSPAVDVAVKVFKKTSEGSWEPFASGKTAESGELHGLTTDEKFVEGVYRVELDTKSYWKTLGISPFHEFADVVFTANDSGHRHYTIAALLSPYSYSTTAVVSNPQN", "length": 147 }, "evidence": [ { "id": "45925688", "url": "http://www.informatics.jax.org/homology/45925688", "database": "MGI" }, { "id": "P02766", "url": "https://omabrowser.org/oma/group/P02766/", "database": "OMA" } ], "common_name": "Mouse" }, { "uniprot_canonical_ac": "P50390-1", "protein_name": "Transthyretin", "gene_name": "TTR", "tax_id": 9823, "organism": "Sus scrofa", "sequence": { "sequence": "MASYRLLLLCLAGLVFVSEAGPAGAGESKCPLMVKVLDAVRGSPAVNVGVKVFKKAADGTWEPFALGKTSEFGELHGLTTDEKFVEGIYKVELDTKSYWKALGISPFHEYAEVVFTANDSGRRHYTIAALLSPYSYSTTALVSSPKEGAL", "length": 150 }, "evidence": [ { "id": "P02766", "url": "https://omabrowser.org/oma/group/P02766/", "database": "OMA" } ], "common_name": "Pig" } ], "go_annotation": { "categories": [ { "name": "Cellular Component", "total": 4, "go_terms": [ { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "P02766", "url": "https://www.uniprot.org/uniprot/P02766" } ], "pmid": "" }, { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "P02766", "url": "https://www.uniprot.org/uniprot/P02766" } ], "pmid": "" }, { "name": "extracellular exosome", "id": "GO:0070062", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070062", "evidence": [ { "database": "UniProtKB", "id": "P02766", "url": "https://www.uniprot.org/uniprot/P02766" } ], "pmid": "" }, { "name": "azurophil granule lumen", "id": "GO:0035578", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035578", "evidence": [ { "database": "UniProtKB", "id": "P02766", "url": "https://www.uniprot.org/uniprot/P02766" } ], "pmid": "" } ] }, { "name": "Molecular Function", "total": 3, "go_terms": [ { "name": "thyroid hormone binding", "id": "GO:0070324", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070324", "evidence": [ { "database": "UniProtKB", "id": "P02766", "url": "https://www.uniprot.org/uniprot/P02766" } ], "pmid": "" }, { "name": "hormone activity", "id": "GO:0005179", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005179", "evidence": [ { "database": "UniProtKB", "id": "P02766", "url": "https://www.uniprot.org/uniprot/P02766" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "P02766", "url": "https://www.uniprot.org/uniprot/P02766" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 1, "go_terms": [ { "name": "purine nucleobase metabolic process", "id": "GO:0006144", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006144", "evidence": [ { "database": "UniProtKB", "id": "P02766", "url": "https://www.uniprot.org/uniprot/P02766" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [ { "start_pos": 118, "end_pos": 120, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [ { "annotation": "Not glycosylated under normal conditions. Following unfolding, caused for example by variant AMYL-TTR 'Gly-38', the cryptic Asn-118 site is exposed and glycosylated by STT3B-containing OST complex, leading to its degradation by the ER-associated degradation (ERAD) pathway.", "evidence": [ { "database": "UniProtKB", "id": "P02766", "url": "https://www.uniprot.org/uniprot/P02766" }, { "database": "PubMed", "id": "14760718", "url": "https://glygen.org/publication/PubMed/14760718" }, { "database": "PubMed", "id": "19167329", "url": "https://glygen.org/publication/PubMed/19167329" }, { "database": "PubMed", "id": "16335952", "url": "https://glygen.org/publication/PubMed/16335952" } ] }, { "annotation": "Sulfonation of the reactive cysteine Cys-30 enhances the stability of the native conformation of TTR, avoiding misassembly of the protein leading to amyloid formation.", "evidence": [ { "database": "UniProtKB", "id": "P02766", "url": "https://www.uniprot.org/uniprot/P02766" }, { "database": "PubMed", "id": "17175208", "url": "https://glygen.org/publication/PubMed/17175208" } ] } ], "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": [ 118 ], "o_linked_sites": [], "snv_sites": [ 70, 120 ], "glycation_sites": [], "phosphorylation_sites": [ 72 ], "sequon_annotation_sites": [ { "start_pos": 118, "end_pos": 120 } ] }, "section_stats": [ { "table_id": "glycosylation", "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", "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": 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": "glycosylation_predicted", "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": "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": 1 }, { "field": "total_sites", "count": 1 } ], "sort_fields": [ "start_pos", "end_pos", "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 3 }, { "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" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 } ], "sort_fields": [ "start_pos", "end_pos", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 2 }, { "field": "total_sites", "count": 1 } ], "sort_fields": [ "start_pos", "end_pos", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 296 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }