{ "disease_id": "DOID:1107", "recommended_name": { "id": "DOID:1107", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1107", "name": "esophageal carcinoma", "description": "A esophageal cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells." }, "synonyms": [ { "id": "DOID:1107", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1107", "name": "cancer of esophagus", "description": "" }, { "id": "DOID:1107", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1107", "name": "cancer of oesophagus", "description": "" }, { "id": "DOID:1107", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1107", "name": "carcinoma of esophagus", "description": "" }, { "id": "DOID:1107", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1107", "name": "carcinoma of oesophagus", "description": "" } ], "children": [ { "id": "DOID:4914", "label": "esophagus adenocarcinoma", "link_status": true, "children": [ { "id": "DOID:7941", "label": "Barrett's adenocarcinoma", "link_status": true, "children": [] } ] }, { "id": "DOID:7134", "label": "esophagus small cell carcinoma", "link_status": true, "children": [] }, { "id": "DOID:3748", "label": "esophagus squamous cell carcinoma", "link_status": true, "children": [] } ], "id_list": [ "DOID:7134", "DOID:3748", "DOID:4914", "DOID:7941", "DOID:1107" ], "unlinked_id_list": [], "crossref": [ { "id": "DOID:1107", "database": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1107", "categories": [] } ], "proteins": [ { "uniprot_canonical_ac": "Q8INB9-1", "uniprot_ac": "Q8INB9", "uniprot_id": "AKT1_DROME", "refseq_ac": "NP_001287353", "glycoprotein": "yes", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "RAC serine/threonine-protein kinase", "resource": "UniProtKB", "type": "recommended" }, { "name": "2.7.11.1", "resource": "UniProtKB", "type": "synonym" }, { "name": "Akt kinase, isoform D", "resource": "RefSeq", "type": "synonym" }, { "name": "CG4006-PD; 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serine protease HTRA1; serine protease 11; protease, serine, 11 (Igf binding); high-temperature requirement A serine peptidase 1", "resource": "RefSeq", "type": "synonym" }, { "name": "serine protease HTRA1 precursor", "resource": "RefSeq", "type": "synonym" } ], "gene_names": [ { "name": "Htra1", "resource": "UniProtKB", "type": "recommended" }, { "name": "HTRA; L56; Prss11; RSPP11", "resource": "RefSeq", "type": "synonym" }, { "name": "Htra1", "resource": "RefSeq", "type": "synonym" }, { "name": "Htra", "resource": "UniProtKB", "type": "synonym" }, { "name": "Prss11", "resource": "UniProtKB", "type": "synonym" } ], "evidence": [ { "id": "1107", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:1107" } ] }, { "uniprot_canonical_ac": "Q03160-1", "uniprot_ac": "Q03160", "uniprot_id": "GRB7_MOUSE", "refseq_ac": "NP_034476", "glycoprotein": "yes", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Growth factor receptor-bound protein 7", "resource": "UniProtKB", "type": "recommended" }, { "name": "Epidermal growth factor receptor GRB-7", "resource": "UniProtKB", "type": "synonym" }, { "name": "GRB7 adapter protein; 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dimethylaniline oxidase 4; hepatic flavin-containing monooxygenase 4; flavin containing monooxygenase 4", "resource": "RefSeq", "type": "synonym" }, { "name": "FMO 4", "resource": "UniProtKB", "type": "synonym" }, { "name": "Hepatic flavin-containing monooxygenase 4", "resource": "UniProtKB", "type": "synonym" }, { "name": "dimethylaniline monooxygenase [N-oxide-forming] 4", "resource": "RefSeq", "type": "synonym" } ], "gene_names": [ { "name": "FMO4", "resource": "UniProtKB", "type": "recommended" }, { "name": "FMO2", "resource": "RefSeq", "type": "synonym" }, { "name": "FMO2", "resource": "UniProtKB", "type": "synonym" }, { "name": "FMO4", "resource": "RefSeq", "type": "synonym" } ], "evidence": [ { "id": "1107", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:1107" } ] }, { "uniprot_canonical_ac": "P51530-1", "uniprot_ac": "P51530", "uniprot_id": "DNA2_HUMAN", "refseq_ac": "NP_001073918", "glycoprotein": "yes", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "DNA replication ATP-dependent helicase/nuclease DNA2", "resource": "UniProtKB", "type": "recommended" }, { "name": "DNA replication ATP-dependent helicase-like homolog", "resource": "UniProtKB", "type": "synonym" }, { "name": "DNA replication ATP-dependent helicase/nuclease DNA2", "resource": "RefSeq", "type": "synonym" }, { "name": "DNA2 DNA replication helicase 2-like; DNA replication helicase 2 homolog; DNA2-like helicase; DNA replication ATP-dependent helicase-like homolog", "resource": "RefSeq", "type": "synonym" }, { "name": "hDNA2", "resource": "UniProtKB", "type": "synonym" } ], "gene_names": [ { "name": "DNA2", "resource": "UniProtKB", "type": "recommended" }, { "name": "DNA2L; hDNA2; RTS4", "resource": "RefSeq", "type": "synonym" }, { "name": "DNA2L", "resource": "UniProtKB", "type": "synonym" }, { "name": "DNA2", "resource": "RefSeq", "type": "synonym" }, { "name": "KIAA0083", "resource": "UniProtKB", "type": "synonym" } ], "evidence": [ { "id": "1107", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:1107" } ] }, { "uniprot_canonical_ac": "Q01650-1", "uniprot_ac": "Q01650", "uniprot_id": "LAT1_HUMAN", "refseq_ac": "NP_003477", "glycoprotein": "yes", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "Large neutral amino acids transporter small subunit 1", "resource": "UniProtKB", "type": "recommended" }, { "name": "4F2 LC", "resource": "UniProtKB", "type": "synonym" }, { "name": "4F2 light chain", "resource": "UniProtKB", "type": "synonym" }, { "name": "4F2LC", "resource": "UniProtKB", "type": "synonym" }, { "name": "CD98 light chain", "resource": "UniProtKB", "type": "synonym" }, { "name": "E16", "resource": "UniProtKB", "type": "synonym" }, { "name": "Integral membrane protein E16", "resource": "UniProtKB", "type": "synonym" }, { "name": "L-type amino acid transporter 1", "resource": "UniProtKB", "type": "synonym" }, { "name": "Solute carrier family 7 member 5", "resource": "UniProtKB", "type": "synonym" }, { "name": "hLAT1", "resource": "UniProtKB", "type": "synonym" }, { "name": "large neutral amino acids transporter small subunit 1", "resource": "RefSeq", "type": "synonym" }, { "name": "solute carrier family 7 (cationic amino acid transporter, y+ system), member 5; 4F2 light chain; CD98 light chain; L-type amino acid transporter 1; integral membrane protein E16; sodium-independent neutral amino acid transporter LAT1; solute carrier family 7 (amino acid transporter light chain, L system), member 5", "resource": "RefSeq", "type": "synonym" }, { "name": "y+ system cationic amino acid transporter", "resource": "UniProtKB", "type": "synonym" } ], "gene_names": [ { "name": "SLC7A5", "resource": "UniProtKB", "type": "recommended" }, { "name": "4F2LC; CD98; D16S469E; E16; LAT1; MPE16", "resource": "RefSeq", "type": "synonym" }, { "name": "CD98LC", "resource": "UniProtKB", "type": "synonym" }, { "name": "LAT1", "resource": "UniProtKB", "type": "synonym" }, { "name": "MPE16", "resource": "UniProtKB", "type": "synonym" }, { "name": "SLC7A5", "resource": "RefSeq", "type": "synonym" }, { "name": "hCG_1789357", "resource": "UniProtKB", "type": "synonym" } ], "evidence": [ { "id": "1107", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:1107" } ] }, { "uniprot_canonical_ac": "Q92743-1", "uniprot_ac": "Q92743", "uniprot_id": "HTRA1_HUMAN", "refseq_ac": "NP_002766", "glycoprotein": "no", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "Serine protease HTRA1", "resource": "UniProtKB", "type": "recommended" }, { "name": "3.4.21.-", "resource": "UniProtKB", "type": "synonym" }, { "name": "High-temperature requirement A serine peptidase 1", "resource": "UniProtKB", "type": "synonym" }, { "name": "IGFBP5-protease; 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GRB7 adapter protein; epidermal growth factor receptor GRB-7", "resource": "RefSeq", "type": "synonym" }, { "name": "B47", "resource": "UniProtKB", "type": "synonym" }, { "name": "Epidermal growth factor receptor GRB-7", "resource": "UniProtKB", "type": "synonym" }, { "name": "GRB7 adapter protein", "resource": "UniProtKB", "type": "synonym" }, { "name": "growth factor receptor-bound protein 7 isoform a", "resource": "RefSeq", "type": "synonym" } ], "gene_names": [ { "name": "GRB7", "resource": "UniProtKB", "type": "recommended" }, { "name": "GRB7", "resource": "RefSeq", "type": "synonym" } ], "evidence": [ { "id": "1107", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:1107" } ] }, { "uniprot_canonical_ac": "A6NK06-1", "uniprot_ac": "A6NK06", "uniprot_id": "IRG1_HUMAN", "refseq_ac": "NP_001245335", "glycoprotein": "yes", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "Cis-aconitate decarboxylase", "resource": "UniProtKB", "type": "recommended" }, { "name": "4.1.1.6", "resource": "UniProtKB", "type": "synonym" }, { "name": "Aconitate decarboxylase 1", "resource": "UniProtKB", "type": "synonym" }, { "name": "Aconitate decarboxylase", "resource": "UniProtKB", "type": "synonym" }, { "name": "CAD", "resource": "UniProtKB", "type": "synonym" }, { "name": "Cis-aconitic acid decarboxylase", "resource": "UniProtKB", "type": "synonym" }, { "name": "Immune-responsive gene 1 protein", "resource": "UniProtKB", "type": "synonym" }, { "name": "cis-aconitate decarboxylase", "resource": "RefSeq", "type": "synonym" }, { "name": "immune-responsive gene 1 protein homolog; 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immunoresponsive gene 1", "resource": "RefSeq", "type": "synonym" } ], "gene_names": [ { "name": "Acod1", "resource": "UniProtKB", "type": "recommended" }, { "name": "Acod1", "resource": "RefSeq", "type": "synonym" }, { "name": "Irg1; RGD1563454", "resource": "RefSeq", "type": "synonym" }, { "name": "Irg1", "resource": "UniProtKB", "type": "synonym" } ], "evidence": [ { "id": "1107", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:1107" } ] }, { "uniprot_canonical_ac": "Q9QZK5-1", "uniprot_ac": "Q9QZK5", "uniprot_id": "HTRA1_RAT", "refseq_ac": "NP_113909", "glycoprotein": "no", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "Serine protease HTRA1", "resource": "UniProtKB", "type": "recommended" }, { "name": "3.4.21.-", "resource": "UniProtKB", "type": "synonym" }, { "name": "High-temperature requirement A serine peptidase 1", "resource": "UniProtKB", "type": "synonym" }, { "name": "Serine protease 11", "resource": "UniProtKB", "type": "synonym" }, { "name": "protease, serine, 11 (Igf binding); 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