{ "disease_id": "DOID:0080202", "recommended_name": { "id": "DOID:0080202", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080202", "name": "adenoid cystic carcinoma", "description": "An adenocarcinoma that is characterized by bands or cylinders of hyalinized or mucinous stroma separating or surrounded by nests or cords of small epithelial cells." }, "synonyms": [], "children": [], "id_list": [ "DOID:0080202" ], "unlinked_id_list": [], "crossref": [ { "id": "DOID:0080202", "database": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080202", "categories": [] } ], "proteins": [ { "uniprot_canonical_ac": "A0A8M2B9E0-1", "uniprot_ac": "A0A8M2B9E0", "uniprot_id": "A0A8M2B9E0_DANRE", "refseq_ac": "XP_005162602", "glycoprotein": "yes", "species": [ { "name": "Danio rerio", "taxid": 7955, "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "protein_names": [ { "name": "Histone-lysine 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"kmt2cb", "type": "recommended" }, { "name": "kmt2cb", "type": "synonym" } ], "record_id": "A0A8M3B7B2-1", "evidence": [ { "id": "0080202", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080202" } ] }, { "uniprot_canonical_ac": "F1Q597-1", "uniprot_ac": "F1Q597", "uniprot_id": "F1Q597_DANRE", "refseq_ac": "XP_005167851", "glycoprotein": "yes", "species": [ { "name": "Danio rerio", "taxid": 7955, "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "protein_names": [ { "name": "[histone H3]-trimethyl-L-lysine(27) demethylase", "type": "recommended" }, { "name": "1.14.11.68", "type": "synonym" }, { "name": "lysine-specific demethylase 6A isoform X1", "type": "synonym" } ], "gene_names": [ { "name": "kdm6a", "type": "recommended" }, { "name": "kdm6a", "type": "synonym" } ], "record_id": "F1Q597-1", "evidence": [ { "id": "0080202", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080202" } ] 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"AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080202" } ] }, { "uniprot_canonical_ac": "A0A0R4ISJ3-1", "uniprot_ac": "A0A0R4ISJ3", "uniprot_id": "A0A0R4ISJ3_DANRE", "refseq_ac": "NP_001001944", "glycoprotein": "yes", "species": [ { "name": "Danio rerio", "taxid": 7955, "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "protein_names": [ { "name": "5'-3' exoribonuclease", "type": "recommended" }, { "name": "3.1.13.-", "type": "synonym" }, { "name": "5'-3' exoribonuclease 2", "type": "synonym" } ], "gene_names": [ { "name": "xrn2", "type": "recommended" }, { "name": "wu:fb38g12", "type": "synonym" }, { "name": "wu:fj53d06", "type": "synonym" }, { "name": "xrn2", "type": "synonym" }, { "name": "zgc:55717", "type": "synonym" } ], "record_id": "A0A0R4ISJ3-1", "evidence": [ { "id": "0080202", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080202" } ] }, { "uniprot_canonical_ac": "A0A8N7TEF8-1", "uniprot_ac": "A0A8N7TEF8", "uniprot_id": "A0A8N7TEF8_DANRE", "refseq_ac": "XP_696163", "glycoprotein": "no", "species": [ { "name": "Danio rerio", "taxid": 7955, "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "protein_names": [ { "name": "Serine/threonine-protein kinase ATR", "type": "recommended" }, { "name": "2.7.11.1", "type": "synonym" }, { "name": "Ataxia telangiectasia and Rad3-related protein", "type": "synonym" }, { "name": "serine/threonine-protein kinase ATR", "type": "synonym" } ], "gene_names": [ { "name": "atr", "type": "recommended" }, { "name": "atr", "type": "synonym" } ], "record_id": "A0A8N7TEF8-1", "evidence": [ { "id": "0080202", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080202" } ] }, { "uniprot_canonical_ac": "F1QKJ0-1", "uniprot_ac": "F1QKJ0", "uniprot_id": "F1QKJ0_DANRE", "refseq_ac": "NP_001243593", "glycoprotein": "yes", "species": [ { "name": "Danio rerio", "taxid": 7955, "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "protein_names": [ { "name": "Tyrosine-protein kinase receptor", "type": "recommended" }, { "name": "2.7.10.1", "type": "synonym" }, { "name": "NT-3 growth factor receptor precursor", "type": "synonym" } ], "gene_names": [ { "name": "ntrk3a", "type": "recommended" }, { "name": "ntrk3a", "type": "synonym" }, { "name": "trkC1", "type": "synonym" } ], "record_id": "F1QKJ0-1", "evidence": [ { "id": "0080202", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080202" } ] }, { "uniprot_canonical_ac": "A0A8M1RHB8-1", "uniprot_ac": "A0A8M1RHB8", "uniprot_id": "A0A8M1RHB8_DANRE", "refseq_ac": "XP_002662799", "glycoprotein": "no", "species": [ { "name": "Danio rerio", "taxid": 7955, "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "protein_names": [ { "name": "Tyrosine-protein kinase receptor", "type": "recommended" }, { "name": "2.7.10.1", "type": "synonym" }, { "name": "NT-3 growth factor receptor isoform X2", "type": "synonym" } ], "gene_names": [ { "name": "ntrk3b", "type": "recommended" }, { "name": "ntrk3b", "type": "synonym" } ], "record_id": "A0A8M1RHB8-1", "evidence": [ { "id": "0080202", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080202" } ] }, { "uniprot_canonical_ac": "A0A0R4IFJ3-1", "uniprot_ac": "A0A0R4IFJ3", "uniprot_id": "A0A0R4IFJ3_DANRE", "refseq_ac": "NP_001121830", "glycoprotein": "yes", "species": [ { "name": "Danio rerio", "taxid": 7955, "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "protein_names": [ { "name": "Large neutral amino acids transporter small subunit 1", "type": "synonym" }, { "name": "large neutral amino acids transporter small subunit 1", "type": "synonym" }, { "name": "solute carrier family 7 (amino acid transporter light chain, L system), member 5", "type": "synonym" } ], "gene_names": [ { "name": "slc7a5", "type": "recommended" }, { "name": "LAT1", "type": "synonym" }, { "name": "slc7a5", "type": "synonym" } ], "record_id": "A0A0R4IFJ3-1", "evidence": [ { "id": "0080202", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080202" } ] }, { "uniprot_canonical_ac": "A0ACD6B586-1", "uniprot_ac": "A0ACD6B586", "uniprot_id": "A0ACD6B586_DANRE", "refseq_ac": "XP_005161394", "glycoprotein": "yes", "species": [ { "name": "Danio rerio", "taxid": 7955, "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "protein_names": [ { "name": "Solute carrier family 3 member 2b isoform X1", "type": "synonym" }, { "name": "solute carrier family 3 member 2b isoform X1", "type": "synonym" } ], "gene_names": [ { "name": "slc3a2b", "type": "recommended" }, { "name": "id:ibd1327", "type": "synonym" }, { "name": "sb:cb519", "type": "synonym" }, { "name": "slc3a2b", "type": "synonym" }, { "name": "wu:fe14a07", "type": "synonym" }, { "name": "wu:fq18d12", "type": "synonym" }, { "name": "zgc:55813", "type": "synonym" } ], "record_id": "A0ACD6B586-1", "evidence": [ { "id": "0080202", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080202" } ] }, { "uniprot_canonical_ac": "P79734-1", "uniprot_ac": "P79734", "uniprot_id": "P53_DANRE", "refseq_ac": "NP_571402", "glycoprotein": "no", "species": [ { "name": "Danio rerio", "taxid": 7955, "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "protein_names": [ { "name": "Cellular tumor antigen p53", "type": "recommended" }, { "name": "Tumor suppressor p53", "type": "synonym" }, { "name": "cellular tumor antigen p53 isoform 2", "type": "synonym" }, { "name": "cellular tumor antigen p53", "type": "synonym" }, { "name": "delta113 p53", "type": "synonym" }, { "name": "tumor suppressor p53", "type": "synonym" } ], "gene_names": [ { "name": "tp53", "type": "recommended" }, { "name": "brp53", "type": "synonym" }, { "name": "drp53", "type": "synonym" }, { "name": "etID22686.5", "type": "synonym" }, { "name": "fb40d06", "type": "synonym" }, { "name": "p53", "type": "synonym" }, { "name": "tp53", "type": "synonym" }, { "name": "wu:fb40d06", "type": "synonym" }, { "name": "zgc:111919", "type": "synonym" } ], "record_id": "P79734-1", "evidence": [ { "id": "0080202", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080202" } ] }, { "uniprot_canonical_ac": "F1QSI9-1", "uniprot_ac": "F1QSI9", "uniprot_id": "F1QSI9_DANRE", "refseq_ac": "NP_571676", "glycoprotein": "no", "species": [ { "name": "Danio rerio", "taxid": 7955, "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "protein_names": [ { "name": "Solute carrier family 3 member 2a", "type": "synonym" }, { "name": "solute carrier family 3 (amino acid transporter heavy chain), member 2a", "type": "synonym" }, { "name": "solute carrier family 3 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"synonym" }, { "name": "Myeloid/lymphoid or mixed-lineage leukemia protein 3 homolog", "type": "synonym" } ], "gene_names": [ { "name": "Kmt2c", "type": "recommended" }, { "name": "Mll3", "type": "synonym" } ], "record_id": "Q8BRH4-1", "evidence": [ { "id": "0080202", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080202" } ] }, { "uniprot_canonical_ac": "O70546-1", "uniprot_ac": "O70546", "uniprot_id": "KDM6A_MOUSE", "refseq_ac": "NP_001297373", "glycoprotein": "yes", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Lysine-specific demethylase 6A", "type": "recommended" }, { "name": "1.14.11.68", "type": "synonym" }, { "name": "Histone demethylase UTX", "type": "synonym" }, { "name": "Ubiquitously transcribed TPR protein on the X chromosome", "type": "synonym" }, { "name": "Ubiquitously transcribed X chromosome tetratricopeptide 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"glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "NT-3 growth factor receptor", "type": "recommended" }, { "name": "2.7.10.1", "type": "synonym" }, { "name": "GP145-TrkC", "type": "synonym" }, { "name": "NT-3 growth factor receptor isoform a precursor", "type": "synonym" }, { "name": "NT-3 growth factor receptor", "type": "synonym" }, { "name": "Neurotrophic tyrosine kinase receptor type 3", "type": "synonym" }, { "name": "Trk-C", "type": "synonym" }, { "name": "TrkC tyrosine kinase", "type": "synonym" }, { "name": "neurotrophin-3", "type": "synonym" }, { "name": "trk-C", "type": "synonym" }, { "name": "trkC tyrosine kinase", "type": "synonym" } ], "gene_names": [ { "name": "Ntrk3", "type": "recommended" }, { "name": "Ntrk3_tv3", "type": "synonym" }, { "name": "Ntrk3", "type": "synonym" }, { "name": "TrkC", "type": "synonym" } ], "record_id": "Q6VNS1-1", "evidence": [ { "id": "0080202", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080202" } ] }, { "uniprot_canonical_ac": "Q9JKK8-1", "uniprot_ac": "Q9JKK8", "uniprot_id": "ATR_MOUSE", "refseq_ac": "", "glycoprotein": "yes", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Serine/threonine-protein kinase ATR", "type": "recommended" }, { "name": "2.7.11.1", "type": "synonym" }, { "name": "Ataxia telangiectasia and Rad3-related protein", "type": "synonym" } ], "gene_names": [ { "name": "Atr", "type": "recommended" }, { "name": "Kiaa4069", "type": "synonym" } ], "record_id": "Q9JKK8-1", "evidence": [ { "id": "0080202", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080202" } ] }, { "uniprot_canonical_ac": "Q9Z127-1", "uniprot_ac": "Q9Z127", "uniprot_id": "LAT1_MOUSE", "refseq_ac": "NP_035534", "glycoprotein": "yes", "species": [ { "name": "Mus musculus", "taxid": 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"type": "synonym" }, { "name": "4F2hc", "type": "synonym" }, { "name": "CD98 antigen", "type": "synonym" }, { "name": "CD98 heavy chain", "type": "synonym" }, { "name": "Solute carrier family 3 member 2", "type": "synonym" }, { "name": "amino acid transporter heavy chain SLC3A2 isoform a", "type": "synonym" }, { "name": "amino acid transporter heavy chain SLC3A2", "type": "synonym" }, { "name": "antigen identified by monoclonal antibodies 4F2", "type": "synonym" }, { "name": "solute carrier family 3 member 2", "type": "synonym" }, { "name": "type II transmembrane protein", "type": "synonym" } ], "gene_names": [ { "name": "Slc3a2", "type": "recommended" }, { "name": "4F2HC", "type": "synonym" }, { "name": "4F2", "type": "synonym" }, { "name": "Cd98", "type": "synonym" }, { "name": "Ly-10", "type": "synonym" }, { "name": "Ly-m10", "type": "synonym" }, { "name": "Ly10", "type": "synonym" }, { "name": "Mdu1", "type": "synonym" }, { "name": "Mgp-2hc", "type": "synonym" }, { "name": "NACAE", "type": "synonym" }, { "name": "Slc3a2", "type": "synonym" } ], "record_id": "P10852-1", "evidence": [ { "id": "0080202", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080202" } ] }, { "uniprot_canonical_ac": "P14922-1", "uniprot_ac": "P14922", "uniprot_id": "CYC8_YEAST", "refseq_ac": "NP_009670", "glycoprotein": "yes", "species": [ { "name": "Saccharomyces cerevisiae S288C", "taxid": 559292, "common_name": "Baker's yeast", "glygen_name": "Yeast", "reference_species": "Saccharomyces cerevisiae S288C [559292]" } ], "protein_names": [ { "name": "General transcriptional corepressor CYC8", "type": "recommended" }, { "name": "Glucose repression mediator protein CYC8", "type": "synonym" }, { "name": "transcription regulator CYC8", "type": "synonym" } ], "gene_names": [ { "name": "CYC8", "type": "recommended" }, { "name": "CRT8", "type": "synonym" }, { "name": "CYC8", "type": "synonym" }, { "name": "SSN6", "type": "synonym" }, { "name": "YBR0908", "type": "synonym" } ], "record_id": "P14922-1", "evidence": [ { "id": "0080202", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080202" } ] }, { "uniprot_canonical_ac": "Q02792-1", "uniprot_ac": "Q02792", "uniprot_id": "XRN2_YEAST", "refseq_ac": "NP_014691", "glycoprotein": "yes", "species": [ { "name": "Saccharomyces cerevisiae S288C", "taxid": 559292, "common_name": "Baker's yeast", "glygen_name": "Yeast", "reference_species": "Saccharomyces cerevisiae S288C [559292]" } ], "protein_names": [ { "name": "5'-3' exoribonuclease 2", "type": "recommended" }, { "name": "3.1.13.-", "type": "synonym" }, { "name": "Ribonucleic acid-trafficking protein 1", "type": "synonym" }, { "name": "p116", "type": "synonym" }, { "name": "ssRNA exonuclease RAT1", "type": "synonym" } ], "gene_names": [ { "name": "RAT1", "type": "recommended" }, { "name": "HKE1", "type": "synonym" }, { "name": "RAT1", "type": "synonym" }, { "name": "TAP1", "type": "synonym" }, { "name": "XRN2", "type": "synonym" } ], "record_id": "Q02792-1", "evidence": [ { "id": "0080202", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080202" } ] }, { "uniprot_canonical_ac": "P38111-1", "uniprot_ac": "P38111", "uniprot_id": "ATR_YEAST", "refseq_ac": "NP_009694", "glycoprotein": "no", "species": [ { "name": "Saccharomyces cerevisiae S288C", "taxid": 559292, "common_name": "Baker's yeast", "glygen_name": "Yeast", "reference_species": "Saccharomyces cerevisiae S288C [559292]" } ], "protein_names": [ { "name": "Serine/threonine-protein kinase MEC1", "type": "recommended" }, { "name": "2.7.11.1", "type": "synonym" }, { "name": "ATR homolog", "type": "synonym" }, { "name": "DNA-damage checkpoint kinase MEC1", "type": "synonym" }, { "name": "Mitosis entry checkpoint protein 1", "type": "synonym" }, { "name": "protein kinase MEC1", "type": "synonym" } ], "gene_names": [ { "name": "MEC1", "type": "recommended" }, { "name": "ESR1", "type": "synonym" }, { "name": "MEC1", "type": "synonym" }, { "name": "RAD31", "type": "synonym" }, { "name": "SAD3", "type": "synonym" }, { "name": "YBR1012", "type": "synonym" } ], "record_id": "P38111-1", "evidence": [ { "id": "0080202", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080202" } ] }, { "uniprot_canonical_ac": "P50276-1", "uniprot_ac": "P50276", "uniprot_id": "MUP1_YEAST", "refseq_ac": "NP_011569", "glycoprotein": "no", "species": [ { "name": "Saccharomyces cerevisiae S288C", "taxid": 559292, "common_name": "Baker's yeast", "glygen_name": "Yeast", "reference_species": "Saccharomyces cerevisiae S288C [559292]" } ], "protein_names": [ { "name": "High-affinity methionine permease", "type": "recommended" }, { "name": "Mup1p", "type": "synonym" } ], "gene_names": [ { "name": "MUP1", "type": "recommended" }, { "name": "MUP1", "type": "synonym" } ], "record_id": "P50276-1", "evidence": [ { "id": "0080202", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080202" } ] }, { "uniprot_canonical_ac": "A0ABK0LYY3-1", "uniprot_ac": "A0ABK0LYY3", "uniprot_id": "A0ABK0LYY3_RAT", "refseq_ac": "XP_038964897", "glycoprotein": "yes", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "Histone-lysine N-methyltransferase 2C", "type": "recommended" }, { "name": "2.1.1.364", "type": "synonym" }, { "name": "histone-lysine N-methyltransferase 2C isoform X7", "type": "synonym" } ], "gene_names": [ { "name": "Kmt2c", "type": "recommended" }, { "name": "Kmt2c", "type": "synonym" } ], "record_id": "A0ABK0LYY3-1", "evidence": [ { "id": "0080202", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080202" } ] }, { "uniprot_canonical_ac": "A0A8I6A5T3-1", "uniprot_ac": "A0A8I6A5T3", "uniprot_id": "A0A8I6A5T3_RAT", "refseq_ac": "NP_001414526", "glycoprotein": "yes", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "[histone H3]-trimethyl-L-lysine(27) demethylase", "type": "recommended" }, { "name": "1.14.11.68", "type": "synonym" }, { "name": "lysine (K)-specific demethylase 6A", "type": "synonym" }, { "name": "lysine-specific demethylase 6A", "type": "synonym" } ], "gene_names": [ { "name": "Kdm6a", "type": "recommended" }, { "name": "Kdm6a", "type": "synonym" }, { "name": "NEWGENE_1565481", "type": "synonym" } ], "record_id": "A0A8I6A5T3-1", "evidence": [ { "id": "0080202", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080202" } ] }, { "uniprot_canonical_ac": "D4A914-1", "uniprot_ac": "D4A914", "uniprot_id": "D4A914_RAT", "refseq_ac": "NP_001102066", "glycoprotein": "no", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "5'-3' exoribonuclease", "type": "recommended" }, { "name": "3.1.13.-", "type": "synonym" }, { "name": "5'-3' exoribonuclease 2", "type": "synonym" } ], "gene_names": [ { "name": "Xrn2", "type": "recommended" }, { "name": "Xrn2", "type": "synonym" } ], "record_id": "D4A914-1", "evidence": [ { "id": "0080202", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080202" } ] }, { "uniprot_canonical_ac": "D3Z822-1", "uniprot_ac": "D3Z822", "uniprot_id": "D3Z822_RAT", "refseq_ac": "NP_001414096", "glycoprotein": "yes", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "Serine/threonine-protein kinase ATR", "type": "recommended" }, { "name": "2.7.11.1", "type": "synonym" }, { "name": "ATR serine/threonine kinase", "type": "synonym" }, { "name": "Ataxia telangiectasia and Rad3-related protein", "type": "synonym" }, { "name": "ataxia telangiectasia and Rad3 related", "type": "synonym" }, { "name": "ataxia telangiectasia and rad3 related-like", "type": "synonym" }, { "name": "serine/threonine-protein kinase ATR", "type": "synonym" } ], "gene_names": [ { "name": "Atr", "type": "recommended" }, { "name": "Atr", "type": "synonym" } ], "record_id": "D3Z822-1", "evidence": [ { "id": "0080202", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080202" } ] }, { "uniprot_canonical_ac": "Q03351-1", "uniprot_ac": "Q03351", "uniprot_id": "NTRK3_RAT", "refseq_ac": "NP_001257584", "glycoprotein": "yes", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "NT-3 growth factor receptor", "type": "recommended" }, { "name": "2.7.10.1", "type": "synonym" }, { "name": "GP145-TrkC", "type": "synonym" }, { "name": "NT-3 growth factor receptor isoform 2 precursor", "type": "synonym" }, { "name": "NT-3 growth factor receptor", "type": "synonym" }, { "name": "Neurotrophic tyrosine kinase receptor type 3", "type": "synonym" }, { "name": "Trk-C", "type": "synonym" }, { "name": "TrkC tyrosine kinase", "type": "synonym" }, { "name": "neural receptor protein-tyrosine kinase (trkC)", "type": "synonym" }, { "name": "neurotrophic tyrosine kinase, receptor, type 3", "type": "synonym" }, { "name": "trk-C", "type": "synonym" }, { "name": "trkC tyrosine kinase", "type": "synonym" } ], "gene_names": [ { "name": "Ntrk3", "type": "recommended" }, { "name": "Ntrk3", "type": "synonym" }, { "name": "Trkc", "type": "synonym" }, { "name": "trkC", "type": "synonym" } ], "record_id": "Q03351-1", "evidence": [ { "id": "0080202", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080202" } ] }, { "uniprot_canonical_ac": "Q63016-1", "uniprot_ac": "Q63016", "uniprot_id": "LAT1_RAT", "refseq_ac": "NP_059049", "glycoprotein": "yes", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "Large neutral amino acids transporter small subunit 1", "type": "recommended" }, { "name": "4F2 LC", "type": "synonym" }, { "name": "4F2 light chain", "type": "synonym" }, { "name": "4F2LC", "type": "synonym" }, { "name": "Integral membrane protein E16", "type": "synonym" }, { "name": "L-type amino acid transporter 1", "type": "synonym" }, { "name": "LAT-1", "type": "synonym" }, { "name": "Protein TA1", "type": "synonym" }, { "name": "Solute carrier family 7 member 5", "type": "synonym" }, { "name": "TA1/LAT-1/CD98 light chain region", "type": "synonym" }, { "name": "integral membrane protein E16", "type": "synonym" }, { "name": "large neutral amino acids transporter small subunit 1", "type": "synonym" }, { "name": "solute carrier family 7 (amino acid transporter light chain, L system), member 5", "type": "synonym" }, { "name": "solute carrier family 7 (cationic amino acid transporter, y+ system), member 5", "type": "synonym" }, { "name": "tumor-associated protein 1", "type": "synonym" } ], "gene_names": [ { "name": "Slc7a5", "type": "recommended" }, { "name": "E16", "type": "synonym" }, { "name": "LAT-1", "type": "synonym" }, { "name": "Lat1", "type": "synonym" }, { "name": "Mpe16", "type": "synonym" }, { "name": "Slc7a5", "type": "synonym" }, { "name": "TA1", "type": "synonym" }, { "name": "Ta1", "type": "synonym" } ], "record_id": "Q63016-1", "evidence": [ { "id": "0080202", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080202" } ] }, { "uniprot_canonical_ac": "Q794F9-1", "uniprot_ac": "Q794F9", "uniprot_id": "4F2_RAT", "refseq_ac": "NP_001258018", "glycoprotein": "yes", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "Amino acid transporter heavy chain SLC3A2", "type": "recommended" }, { "name": "4F2 cell-surface antigen heavy chain", "type": "synonym" }, { "name": "4F2hc", "type": "synonym" }, { "name": "Solute carrier family 3 member 2", "type": "synonym" }, { "name": "amino acid transporter heavy chain SLC3A2 isoform 2", "type": "synonym" }, { "name": "amino acid transporter heavy chain SLC3A2", "type": "synonym" }, { "name": "antigen identified by monoclonal antibodies 4F2", "type": "synonym" }, { "name": "solute carrier family 3 (activators of dibasic and neutral amino acid transport), member 2", "type": "synonym" }, { "name": "solute carrier family 3 (amino acid transporter heavy chain), member 2", "type": "synonym" } ], "gene_names": [ { "name": "Slc3a2", "type": "recommended" }, { "name": "Mdu1", "type": "synonym" }, { "name": "Slc3a2", "type": "synonym" } ], "record_id": "Q794F9-1", "evidence": [ { "id": "0080202", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080202" } ] }, { "uniprot_canonical_ac": "P10361-1", "uniprot_ac": "P10361", "uniprot_id": "P53_RAT", "refseq_ac": "NP_112251", "glycoprotein": "yes", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "Cellular tumor antigen p53", "type": "recommended" }, { "name": "Tumor suppressor p53", "type": "synonym" }, { "name": "cellular tumor antigen p53 isoform a", "type": "synonym" }, { "name": "cellular tumor antigen p53", "type": "synonym" }, { "name": "transformation related protein 53", "type": "synonym" }, { "name": "tumor protein p53 (Li-Fraumeni syndrome)", "type": "synonym" }, { "name": "tumor suppressor p53", "type": "synonym" } ], "gene_names": [ { "name": "Tp53", "type": "recommended" }, { "name": "P53", "type": "synonym" }, { "name": "Tp53", "type": "synonym" }, { "name": "Trp53", "type": "synonym" }, { "name": "p53", "type": "synonym" } ], "record_id": "P10361-1", "evidence": [ { "id": "0080202", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080202" } ] }, { "uniprot_canonical_ac": "Q9W1H0-1", "uniprot_ac": "Q9W1H0", "uniprot_id": "Q9W1H0_DROME", "refseq_ac": "NP_611847", "glycoprotein": "no", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "2.1.1.364", "type": "synonym" }, { "name": "2.1.1.370", "type": "synonym" }, { "name": "CG5591-PA", "type": "synonym" }, { "name": "Lost PHDs of trr, isoform A", "type": "synonym" }, { "name": "Lpt-PA", "type": "synonym" }, { "name": "cara mitad", "type": "synonym" }, { "name": "lost PHD finger of Trr", "type": "synonym" }, { "name": "lost PHDs of Trr", "type": "synonym" }, { "name": "lost PHDs of trr, isoform A", "type": "synonym" } ], "gene_names": [ { "name": "Lpt", "type": "recommended" }, { "name": "CG5591", "type": "synonym" }, { "name": "Cara Mitad", "type": "synonym" }, { "name": "Cmi", "type": "synonym" }, { "name": "Dmel\\CG5591", "type": "synonym" }, { "name": "Dmel_CG5591", "type": "synonym" }, { "name": "LPT", "type": "synonym" }, { "name": "Lpt", "type": "synonym" }, { "name": "cg5591", "type": "synonym" }, { "name": "cmi", "type": "synonym" }, { "name": "lpt", "type": "synonym" } ], "record_id": "Q9W1H0-1", "evidence": [ { "id": "0080202", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080202" } ] }, { "uniprot_canonical_ac": "Q9VL07-1", "uniprot_ac": "Q9VL07", "uniprot_id": "Q9VL07_DROME", "refseq_ac": "NP_609368", "glycoprotein": "yes", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "1.14.11.68", "type": "synonym" }, { "name": "CG5640-PA", "type": "synonym" }, { "name": "Utx histone demethylase, isoform A", "type": "synonym" }, { "name": "Utx-PA", "type": "synonym" }, { "name": "anon-31BCa", "type": "synonym" }, { "name": "ubiquitously transcribed X chromosome tetratricopeptide repeat protein", "type": "synonym" }, { "name": "ubiquitously transcribed tetratricopetide repeat gene on the X chromosome", "type": "synonym" } ], "gene_names": [ { "name": "Utx", "type": "recommended" }, { "name": "CG5640", "type": "synonym" }, { "name": "Dmel\\CG5640", "type": "synonym" }, { "name": "Dmel_CG5640", "type": "synonym" }, { "name": "UTX", "type": "synonym" }, { "name": "Utx", "type": "synonym" }, { "name": "anon-31BCa", "type": "synonym" }, { "name": "dUTX", "type": "synonym" }, { "name": "dUtx", "type": "synonym" }, { "name": "utx", "type": "synonym" } ], "record_id": "Q9VL07-1", "evidence": [ { "id": "0080202", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080202" } ] }, { "uniprot_canonical_ac": "Q9VM71-1", "uniprot_ac": "Q9VM71", "uniprot_id": "XRN2_DROME", "refseq_ac": "NP_001260166", "glycoprotein": "no", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "5'-3' exoribonuclease 2 homolog", "type": "recommended" }, { "name": "3.1.13.-", "type": "synonym" }, { "name": "CG10354-PB", "type": "synonym" }, { "name": "Rat1 5'-3' exoribonuclease, isoform B", "type": "synonym" }, { "name": "Rat1-PB", "type": "synonym" }, { "name": "Ribonucleic acid-trafficking protein 1", "type": "synonym" }, { "name": "dRAT1", "type": "synonym" } ], "gene_names": [ { "name": "Rat1", "type": "recommended" }, { "name": "CG10354", "type": "synonym" }, { "name": "Dmel\\CG10354", "type": "synonym" }, { "name": "RAT1", "type": "synonym" }, { "name": "Rat1", "type": "synonym" }, { "name": "XRN2", "type": "synonym" }, { "name": "Xrn2", "type": "synonym" }, { "name": "dRAT1", "type": "synonym" }, { "name": "dhp1", "type": "synonym" } ], "record_id": "Q9VM71-1", "evidence": [ { "id": "0080202", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080202" } ] }, { "uniprot_canonical_ac": "Q9VXG8-1", "uniprot_ac": "Q9VXG8", "uniprot_id": "ATR_DROME", "refseq_ac": "NP_523369", "glycoprotein": "no", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "Serine/threonine-protein kinase ATR", "type": "recommended" }, { "name": "2.7.11.1", "type": "synonym" }, { "name": "ATM-RAD3 related", "type": "synonym" }, { "name": "ATR homolog", "type": "synonym" }, { "name": "Ataxia telangiectasia and Rad3-related protein homolog", "type": "synonym" }, { "name": "CG4252-PA", "type": "synonym" }, { "name": "Meiotic protein 41", "type": "synonym" }, { "name": "ataxia telangiectasia and Rad3 related", "type": "synonym" }, { "name": "dATR", "type": "synonym" }, { "name": "drosophila ATR", "type": "synonym" }, { "name": "mei-41-PA", "type": "synonym" }, { "name": "meiotic 41", "type": "synonym" }, { "name": "meiotic-41", "type": "synonym" } ], "gene_names": [ { "name": "mei-41", "type": "recommended" }, { "name": "4252", "type": "synonym" }, { "name": "ATR", "type": "synonym" }, { "name": "CG4252", "type": "synonym" }, { "name": "DmATR", "type": "synonym" }, { "name": "Dmel\\CG4252", "type": "synonym" }, { "name": "Dmmei41", "type": "synonym" }, { "name": "MEI41/FRP1", "type": "synonym" }, { "name": "MEI41", "type": "synonym" }, { "name": "Mei-41/DATR", "type": "synonym" }, { "name": "Mei-41", "type": "synonym" }, { "name": "Mei41", "type": "synonym" }, { "name": "atr", "type": "synonym" }, { "name": "dATR", "type": "synonym" }, { "name": "fs(1)M37", "type": "synonym" }, { "name": "mei-195", "type": "synonym" }, { "name": "mei-41", "type": "synonym" }, { "name": "mei41", "type": "synonym" }, { "name": "meiP41", "type": "synonym" }, { "name": "mus(1)103", "type": "synonym" }, { "name": "mus(1)104", "type": "synonym" }, { "name": "mus-103", "type": "synonym" }, { "name": "mus-104", "type": "synonym" }, { "name": "mus103", "type": "synonym" }, { "name": "mus104", "type": "synonym" } ], "record_id": "Q9VXG8-1", "evidence": [ { "id": "0080202", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080202" } ] }, { "uniprot_canonical_ac": "Q9Y1A7-1", "uniprot_ac": "Q9Y1A7", "uniprot_id": "Q9Y1A7_DROME", "refseq_ac": "NP_524074", "glycoprotein": "no", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "CG3297-PA", "type": "synonym" }, { "name": "Minidiscs, isoform A", "type": "synonym" }, { "name": "Minidiscs, isoform C", "type": "synonym" }, { "name": "Minidiscs, isoform D", "type": "synonym" }, { "name": "minidiscs, isoform A", "type": "synonym" }, { "name": "minidiscs", "type": "synonym" }, { "name": "minidisks", "type": "synonym" }, { "name": "mnd-PA", "type": "synonym" } ], "gene_names": [ { "name": "mnd", "type": "recommended" }, { "name": "CG3297", "type": "synonym" }, { "name": "Dmel\\CG3297", "type": "synonym" }, { "name": "Dmel_CG3297", "type": "synonym" }, { "name": "MND", "type": "synonym" }, { "name": "Mnd", "type": "synonym" }, { "name": "SG29", "type": "synonym" }, { "name": "l(3)B5", "type": "synonym" }, { "name": "l(3)SG29", "type": "synonym" }, { "name": "l(3)ds-5", "type": "synonym" }, { "name": "l(3)ds5", "type": "synonym" }, { "name": "l(3)o52", "type": "synonym" }, { "name": "md", "type": "synonym" }, { "name": "mnd", "type": "synonym" } ], "record_id": "Q9Y1A7-1", "evidence": [ { "id": "0080202", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080202" } ] }, { "uniprot_canonical_ac": "Q9VKC2-1", "uniprot_ac": "Q9VKC2", "uniprot_id": "Q9VKC2_DROME", "refseq_ac": "NP_001245996", "glycoprotein": "no", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "CG12317-PC", "type": "synonym" }, { "name": "JhI-21-PC", "type": "synonym" }, { "name": "Juvenile hormone Inducible-21, isoform A", "type": "synonym" }, { "name": "Juvenile hormone Inducible-21, isoform B", "type": "synonym" }, { "name": "Juvenile hormone Inducible-21, isoform C", "type": "synonym" }, { "name": "Juvenile hormone Inducible-21, isoform D", "type": "synonym" }, { "name": "Juvenile hormone Inducible-21, isoform E", "type": "synonym" }, { "name": "juvenile hormone Inducible-21, isoform C", "type": "synonym" }, { "name": "solute carrier 7-family amino acid transporter", "type": "synonym" } ], "gene_names": [ { "name": "JhI-21", "type": "recommended" }, { "name": "CG12317", "type": "synonym" }, { "name": "Dmel\\CG12317", "type": "synonym" }, { "name": "Dmel_CG12317", "type": "synonym" }, { "name": "JHI-21", "type": "synonym" }, { "name": "JhI-21", "type": "synonym" }, { "name": "Jhl-21", "type": "synonym" }, { "name": "jhl-21", "type": "synonym" } ], "record_id": "Q9VKC2-1", "evidence": [ { "id": "0080202", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080202" } ] }, { "uniprot_canonical_ac": "Q8IMZ4-1", "uniprot_ac": "Q8IMZ4", "uniprot_id": "Q8IMZ4_DROME", "refseq_ac": "NP_996267", "glycoprotein": "no", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "CG33336-PB", "type": "synonym" }, { "name": "Dmp53", "type": "synonym" }, { "name": "P53, isoform B", "type": "synonym" }, { "name": "drosophila p53", "type": "synonym" }, { "name": "p53, isoform B", "type": "synonym" }, { "name": "p53-PB", "type": "synonym" }, { "name": "p53-like regulator of apoptosis and cell cycle", "type": "synonym" }, { "name": "protein 53", "type": "synonym" } ], "gene_names": [ { "name": "p53", "type": "recommended" }, { "name": "CG10873", "type": "synonym" }, { "name": "CG31325", "type": "synonym" }, { "name": "CG33336", "type": "synonym" }, { "name": "D-p53", "type": "synonym" }, { "name": "DMP53", "type": "synonym" }, { "name": "Dm-P53", "type": "synonym" }, { "name": "DmP53", "type": "synonym" }, { "name": "Dmel\\CG33336", "type": "synonym" }, { "name": "Dmel_CG33336", "type": "synonym" }, { "name": "Dmp53", "type": "synonym" }, { "name": "Dp53", "type": "synonym" }, { "name": "P53", "type": "synonym" }, { "name": "dmP53", "type": "synonym" }, { "name": "dmp53", "type": "synonym" }, { "name": "dp53", "type": "synonym" }, { "name": "p53", "type": "synonym" }, { "name": "prac", "type": "synonym" } ], "record_id": "Q8IMZ4-1", "evidence": [ { "id": "0080202", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080202" } ] }, { "uniprot_canonical_ac": "A0A0B4KGE4-1", "uniprot_ac": "A0A0B4KGE4", "uniprot_id": "A0A0B4KGE4_DROME", "refseq_ac": "NP_001262355", "glycoprotein": "no", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "alpha-glucosidase", "type": "recommended" }, { "name": "3.2.1.20", "type": "synonym" }, { "name": "CD98 heavy chain, isoform B", "type": "synonym" }, { "name": "CD98hc-PB", "type": "synonym" }, { "name": "CG2791-PB", "type": "synonym" } ], "gene_names": [ { "name": "CD98hc", "type": "recommended" }, { "name": "CD98hc", "type": "synonym" }, { "name": "CG2791", "type": "synonym" }, { "name": "Dmel\\CG2791", "type": "synonym" }, { "name": "Dmel_CG2791", "type": "synonym" }, { "name": "RE39378p", "type": "synonym" }, { "name": "cd98hc", "type": "synonym" } ], "record_id": "A0A0B4KGE4-1", "evidence": [ { "id": "0080202", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080202" } ] }, { "uniprot_canonical_ac": "P13639-1", "uniprot_ac": "P13639", "uniprot_id": "EF2_HUMAN", "refseq_ac": "NP_001952", "glycoprotein": "yes", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "Elongation factor 2", "type": "recommended" }, { "name": "3.6.5.-", "type": "synonym" }, { "name": "EF-2", "type": "synonym" }, { "name": "elongation factor 2", "type": "synonym" }, { "name": "epididymis secretory sperm binding protein", "type": "synonym" }, { "name": "polypeptidyl-tRNA translocase", "type": "synonym" } ], "gene_names": [ { "name": "EEF2", "type": "recommended" }, { "name": "EEF-2", "type": "synonym" }, { "name": "EEF2", "type": "synonym" }, { "name": "EF-2", "type": "synonym" }, { "name": "EF2", "type": "synonym" }, { "name": "SCA26", "type": "synonym" } ], "record_id": "P13639-1", "evidence": [ { "id": "0080202", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080202" } ] }, { "uniprot_canonical_ac": "Q16829-1", "uniprot_ac": "Q16829", "uniprot_id": "DUS7_HUMAN", "refseq_ac": "NP_001938", "glycoprotein": "no", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "Dual specificity protein phosphatase 7", "type": "recommended" }, { "name": "3.1.3.16", "type": "synonym" }, { "name": "3.1.3.48", "type": "synonym" }, { "name": "Dual specificity protein phosphatase PYST2", "type": "synonym" }, { "name": "dual specificity protein phosphatase 7", "type": "synonym" }, { "name": "dual specificity protein phosphatase PYST2", "type": "synonym" } ], "gene_names": [ { "name": "DUSP7", "type": "recommended" }, { "name": "DUSP7", "type": "synonym" }, { "name": "MKPX", "type": "synonym" }, { "name": "PYST2", "type": "synonym" } ], "record_id": "Q16829-1", "evidence": [ { "id": "0080202", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080202" } ] }, { "uniprot_canonical_ac": "P04637-1", "uniprot_ac": "P04637", "uniprot_id": "P53_HUMAN", "refseq_ac": "NP_000537", "glycoprotein": "yes", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "Cellular tumor antigen p53", "type": "recommended" }, { "name": "Antigen NY-CO-13", "type": "synonym" }, { "name": "Phosphoprotein p53", "type": "synonym" }, { "name": "Tumor suppressor p53", "type": "synonym" }, { "name": "antigen NY-CO-13", "type": "synonym" }, { "name": "cellular tumor antigen p53 isoform a", "type": "synonym" }, { "name": "cellular tumor antigen p53", "type": "synonym" }, { "name": "mutant tumor protein 53", "type": "synonym" }, { "name": "phosphoprotein p53", "type": "synonym" }, { "name": "transformation-related protein 53", "type": "synonym" }, { "name": "tumor protein 53", "type": "synonym" }, { "name": "tumor supressor p53", "type": "synonym" } ], "gene_names": [ { "name": "TP53", "type": "recommended" }, { "name": "BCC7", "type": "synonym" }, { "name": "BMFS5", "type": "synonym" }, { "name": "LFS1", "type": "synonym" }, { "name": "P53", "type": "synonym" }, { "name": "TP53", "type": "synonym" }, { "name": "TRP53", "type": "synonym" } ], "record_id": "P04637-1", "evidence": [ { "id": "0080202", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080202" } ] }, { "uniprot_canonical_ac": "P08195-2", "uniprot_ac": "P08195", "uniprot_id": "4F2_HUMAN", "refseq_ac": "NP_001012680", "glycoprotein": "yes", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "Amino acid transporter heavy chain SLC3A2", "type": "recommended" }, { "name": "4F2 cell-surface antigen heavy chain", "type": "synonym" }, { "name": "4F2 heavy chain antigen", "type": "synonym" }, { "name": "4F2hc", "type": "synonym" }, { "name": "CD98 heavy chain", "type": "synonym" }, { "name": "Lymphocyte activation antigen 4F2 large subunit", "type": "synonym" }, { "name": "Solute carrier family 3 member 2", "type": "synonym" }, { "name": "amino acid transporter heavy chain SLC3A2 isoform b", "type": "synonym" }, { "name": "amino acid transporter heavy chain SLC3A2", "type": "synonym" }, { "name": "antigen defined by monoclonal antibody 4F2, heavy chain", "type": "synonym" }, { "name": "antigen identified by monoclonal antibodies 4F2, TRA1.10, TROP4, and T43", "type": "synonym" }, { "name": "lymphocyte activation antigen 4F2 large subunit", "type": "synonym" }, { "name": "monoclonal antibody 44D7", "type": "synonym" }, { "name": "solute carrier family 3 (activators of dibasic and neutral amino acid transport), member 2", "type": "synonym" }, { "name": "solute carrier family 3 (amino acid transporter heavy chain), member 2", "type": "synonym" } ], "gene_names": [ { "name": "SLC3A2", "type": "recommended" }, { "name": "4F2HC", "type": "synonym" }, { "name": "4F2", "type": "synonym" }, { "name": "4T2HC", "type": "synonym" }, { "name": "CD98HC", "type": "synonym" }, { "name": "CD98", "type": "synonym" }, { "name": "MDU1", "type": "synonym" }, { "name": "NACAE", "type": "synonym" }, { "name": "SLC3A2", "type": "synonym" } ], "record_id": "P08195-2", "evidence": [ { "id": "0080202", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080202" } ] }, { "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", "type": "recommended" }, { "name": "4F2 LC", "type": "synonym" }, { "name": "4F2 light chain", "type": "synonym" }, { "name": "4F2LC", "type": "synonym" }, { "name": "CD98 light chain", "type": "synonym" }, { "name": "E16", "type": "synonym" }, { "name": "Integral membrane protein E16", "type": "synonym" }, { "name": "L-type amino acid transporter 1", "type": "synonym" }, { "name": "Solute carrier family 7 member 5", "type": "synonym" }, { "name": "hLAT1", "type": "synonym" }, { "name": "integral membrane protein E16", "type": "synonym" }, { "name": "large neutral amino acids transporter small subunit 1", "type": "synonym" }, { "name": "sodium-independent neutral amino acid transporter LAT1", "type": "synonym" }, { "name": "solute carrier family 7 (amino acid transporter light chain, L system), member 5", "type": "synonym" }, { "name": "solute carrier family 7 (cationic amino acid transporter, y+ system), member 5", "type": "synonym" }, { "name": "y+ system cationic amino acid transporter", "type": "synonym" } ], "gene_names": [ { "name": "SLC7A5", "type": "recommended" }, { "name": "4F2LC", "type": "synonym" }, { "name": "CD98LC", "type": "synonym" }, { "name": "CD98", "type": "synonym" }, { "name": "D16S469E", "type": "synonym" }, { "name": "E16", "type": "synonym" }, { "name": "LAT1", "type": "synonym" }, { "name": "MPE16", "type": "synonym" }, { "name": "SLC7A5", "type": "synonym" } ], "record_id": "Q01650-1", "evidence": [ { "id": "0080202", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080202" } ] }, { "uniprot_canonical_ac": "Q16288-1", "uniprot_ac": "Q16288", "uniprot_id": "NTRK3_HUMAN", "refseq_ac": "NP_001012338", "glycoprotein": "yes", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "NT-3 growth factor receptor", "type": "recommended" }, { "name": "2.7.10.1", "type": "synonym" }, { "name": "ETS related protein-neurotrophic receptor tyrosine kinase fusion protein", "type": "synonym" }, { "name": "ETV6-NTRK3 fusion", "type": "synonym" }, { "name": "GP145-TrkC", "type": "synonym" }, { "name": "NT-3 growth factor receptor isoform a precursor", "type": "synonym" }, { "name": "NT-3 growth factor receptor", "type": "synonym" }, { "name": "Neurotrophic tyrosine kinase receptor type 3", "type": "synonym" }, { "name": "Trk-C", "type": "synonym" }, { "name": "TrkC tyrosine kinase", "type": "synonym" }, { "name": "neurotrophic tyrosine kinase, receptor, type 3", "type": "synonym" }, { "name": "tyrosine kinase receptor C", "type": "synonym" } ], "gene_names": [ { "name": "NTRK3", "type": "recommended" }, { "name": "GP145-TrkC", "type": "synonym" }, { "name": "NTRK3", "type": "synonym" }, { "name": "TRKC", "type": "synonym" }, { "name": "gp145(trkC)", "type": "synonym" } ], "record_id": "Q16288-1", "evidence": [ { "id": "0080202", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080202" } ] }, { "uniprot_canonical_ac": "Q13535-1", "uniprot_ac": "Q13535", "uniprot_id": "ATR_HUMAN", "refseq_ac": "NP_001175", "glycoprotein": "yes", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "Serine/threonine-protein kinase ATR", "type": "recommended" }, { "name": "2.7.11.1", "type": "synonym" }, { "name": "ATR serine/threonine kinase", "type": "synonym" }, { "name": "Ataxia telangiectasia and Rad3-related protein", "type": "synonym" }, { "name": "FRAP-related protein 1", "type": "synonym" }, { "name": "FRAP-related protein-1", "type": "synonym" }, { "name": "MEC1, mitosis entry checkpoint 1, homolog", "type": "synonym" }, { "name": "ataxia telangiectasia and Rad3-related protein", "type": "synonym" }, { "name": "serine/threonine-protein kinase ATR isoform 1", "type": "synonym" } ], "gene_names": [ { "name": "ATR", "type": "recommended" }, { "name": "ATR", "type": "synonym" }, { "name": "FCTCS", "type": "synonym" }, { "name": "FRP1", "type": "synonym" }, { "name": "MEC1", "type": "synonym" }, { "name": "SCKL1", "type": "synonym" }, { "name": "SCKL", "type": "synonym" } ], "record_id": "Q13535-1", "evidence": [ { "id": "0080202", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080202" } ] }, { "uniprot_canonical_ac": "Q9H0D6-1", "uniprot_ac": "Q9H0D6", "uniprot_id": "XRN2_HUMAN", "refseq_ac": "NP_001304889", "glycoprotein": "yes", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "5'-3' exoribonuclease 2", "type": "recommended" }, { "name": "3.1.13.-", "type": "synonym" }, { "name": "5'-3' exoribonuclease 2 isoform 1", "type": "synonym" }, { "name": "DHM1-like protein", "type": "synonym" }, { "name": "DHP protein", "type": "synonym" } ], "gene_names": [ { "name": "XRN2", "type": "recommended" }, { "name": "XRN2", "type": "synonym" } ], "record_id": "Q9H0D6-1", "evidence": [ { "id": "0080202", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080202" } ] }, { "uniprot_canonical_ac": "O15550-1", "uniprot_ac": "O15550", "uniprot_id": "KDM6A_HUMAN", "refseq_ac": "NP_066963", "glycoprotein": "yes", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "Lysine-specific demethylase 6A", "type": "recommended" }, { "name": "1.14.11.68", "type": "synonym" }, { "name": "Histone demethylase UTX", "type": "synonym" }, { "name": "Ubiquitously-transcribed TPR protein on the X chromosome", "type": "synonym" }, { "name": "Ubiquitously-transcribed X chromosome tetratricopeptide repeat protein", "type": "synonym" }, { "name": "[histone H3]-trimethyl-L-lysine(27) demethylase 6A", "type": "synonym" }, { "name": "bA386N14.2 (ubiquitously transcribed X chromosome tetratricopeptide repeat protein (UTX))", "type": "synonym" }, { "name": "histone demethylase UTX", "type": "synonym" }, { "name": "lysine (K)-specific demethylase 6A", "type": "synonym" }, { "name": "lysine-specific demethylase 6A isoform 3", "type": "synonym" }, { "name": "ubiquitously transcribed tetratricopeptide repeat protein X-linked", "type": "synonym" }, { "name": "ubiquitously-transcribed TPR gene on the X chromosome", "type": "synonym" } ], "gene_names": [ { "name": "KDM6A", "type": "recommended" }, { "name": "KABUK2", "type": "synonym" }, { "name": "KDM6A", "type": "synonym" }, { "name": "UTX", "type": "synonym" }, { "name": "bA386N14.2", "type": "synonym" } ], "record_id": "O15550-1", "evidence": [ { "id": "0080202", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080202" } ] }, { "uniprot_canonical_ac": "Q8NEZ4-1", "uniprot_ac": "Q8NEZ4", "uniprot_id": "KMT2C_HUMAN", "refseq_ac": "NP_733751", "glycoprotein": "yes", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "Histone-lysine N-methyltransferase 2C", "type": "recommended" }, { "name": "2.1.1.364", "type": "synonym" }, { "name": "ALR-like protein", "type": "synonym" }, { "name": "Homologous to ALR protein", "type": "synonym" }, { "name": "Lysine N-methyltransferase 2C", "type": "synonym" }, { "name": "Myeloid/lymphoid or mixed-lineage leukemia protein 3", "type": "synonym" }, { "name": "histone-lysine N-methyltransferase 2C", "type": "synonym" }, { "name": "histone-lysine N-methyltransferase MLL3", "type": "synonym" }, { "name": "histone-lysine N-methyltransferase, H3 lysine-4 specific", "type": "synonym" }, { "name": "homologous to ALR protein", "type": "synonym" }, { "name": "lysine (K)-specific methyltransferase 2C", "type": "synonym" }, { "name": "myeloid/lymphoid or mixed-lineage leukemia protein 3", "type": "synonym" } ], "gene_names": [ { "name": "KMT2C", "type": "recommended" }, { "name": "HALR", "type": "synonym" }, { "name": "KIAA1506", "type": "synonym" }, { "name": "KLEFS2", "type": "synonym" }, { "name": "KMT2C", "type": "synonym" }, { "name": "MLL3", "type": "synonym" } ], "record_id": "Q8NEZ4-1", "evidence": [ { "id": "0080202", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080202" } ] } ], "glycans": [], "biomarkers": [], "association_flag": "1000", "record_id": "doid.0080202" }