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"type": "synonym" }, { "name": "Dmel\\CG7103", "type": "synonym" }, { "name": "Dmel_CG7103", "type": "synonym" }, { "name": "EP1624", "type": "synonym" }, { "name": "PVF1", "type": "synonym" }, { "name": "PVFs", "type": "synonym" }, { "name": "PVF", "type": "synonym" }, { "name": "Pvf-1", "type": "synonym" }, { "name": "Pvf1", "type": "synonym" }, { "name": "Pvf", "type": "synonym" }, { "name": "VEGF2-B", "type": "synonym" }, { "name": "VEGFA", "type": "synonym" }, { "name": "VEGF", "type": "synonym" }, { "name": "Vegf17E", "type": "synonym" }, { "name": "Vegf17e-a", "type": "synonym" }, { "name": "Vegf17e-b", "type": "synonym" }, { "name": "l(1)G0146", "type": "synonym" }, { "name": "pvf1", "type": "synonym" }, { "name": "vegf1", "type": "synonym" } ], "record_id": "Q9VWP6-1", "evidence": [ { "id": "0060230", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060230" } ] }, { "uniprot_canonical_ac": "Q9VRR2-1", "uniprot_ac": "Q9VRR2", "uniprot_id": "S53A1_DROME", "refseq_ac": "NP_648000", "glycoprotein": "no", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "Solute carrier family 53 member 1", "type": "recommended" }, { "name": "CG10483-PA", "type": "synonym" }, { "name": "Inorganic phosphate-sensitive XPR1 homolog", "type": "synonym" }, { "name": "PXo-PA", "type": "synonym" }, { "name": "P[[i]]-sensitive XPR1 orthologue, isoform A", "type": "synonym" }, { "name": "Phosphate exporter PXo", "type": "synonym" }, { "name": "Xenotropic and polytropic retrovirus receptor 1", "type": "synonym" } ], "gene_names": [ { "name": "PXo", "type": "recommended" }, { "name": "CG10483", "type": "synonym" }, { "name": "Dmel\\CG10483", "type": "synonym" }, { "name": "Dmel_CG10483", "type": "synonym" }, { "name": "PXo", "type": "synonym" }, { "name": "XPR1", "type": "synonym" } ], "record_id": "Q9VRR2-1", "evidence": [ { "id": "0060230", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060230" } ] }, { "uniprot_canonical_ac": "Q9VWZ2-1", "uniprot_ac": "Q9VWZ2", "uniprot_id": "Q9VWZ2_DROME", "refseq_ac": "NP_001285398", "glycoprotein": "no", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "Solute carrier family 53 member 1", "type": "recommended" }, { "name": "CG7536-PC", "type": "synonym" }, { "name": "uncharacterized protein, isoform C", "type": "synonym" } ], "gene_names": [ { "name": "Dmel\\CG7536", "type": "recommended" }, { "name": "CG7536", "type": "synonym" }, { "name": "Dmel\\CG7536", "type": "synonym" }, { "name": "Dmel_CG7536", "type": "synonym" } ], "record_id": "Q9VWZ2-1", "evidence": [ { "id": "0060230", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060230" } ] }, { "uniprot_canonical_ac": "P23588-1", "uniprot_ac": "P23588", "uniprot_id": "IF4B_HUMAN", "refseq_ac": "NP_001317583", "glycoprotein": "yes", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "Eukaryotic translation initiation factor 4B", "type": "recommended" }, { "name": "eIF-4B", "type": "synonym" }, { "name": "eukaryotic translation initiation factor 4B isoform 3", "type": "synonym" } ], "gene_names": [ { "name": "EIF4B", "type": "recommended" }, { "name": "EIF-4B", "type": "synonym" }, { "name": "EIF4B", "type": "synonym" }, { "name": "PRO1843", "type": "synonym" } ], "record_id": "P23588-1", "evidence": [ { "id": "0060230", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060230" } ] }, { "uniprot_canonical_ac": "Q6NSJ0-1", "uniprot_ac": "Q6NSJ0", "uniprot_id": "MYORG_HUMAN", "refseq_ac": "NP_065753", "glycoprotein": "yes", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "Alpha-galactosidase MYORG", "type": "recommended" }, { "name": "3.2.1.22", "type": "synonym" }, { "name": "Myogenesis regulating glycosidase", "type": "synonym" }, { "name": "Nuclear envelope transmembrane protein 37", "type": "synonym" }, { "name": "alpha-galactosidase MYORG", "type": "synonym" }, { "name": "myogenesis regulating glycosidase (putative)", "type": "synonym" }, { "name": "nuclear envelope transmembrane protein 37", "type": "synonym" } ], "gene_names": [ { "name": "MYORG", "type": "recommended" }, { "name": "IBGC7", "type": "synonym" }, { "name": "KIAA1161", "type": "synonym" }, { "name": "MYORG", "type": "synonym" }, { "name": "NET37", "type": "synonym" } ], "record_id": "Q6NSJ0-1", "evidence": [ { "id": "0060230", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060230" } ] }, { "uniprot_canonical_ac": "Q9UBH6-1", "uniprot_ac": "Q9UBH6", "uniprot_id": "S53A1_HUMAN", "refseq_ac": "NP_001129141", "glycoprotein": "no", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "Solute carrier family 53 member 1", "type": "recommended" }, { "name": "Phosphate exporter SLC53A1", "type": "synonym" }, { "name": "Protein SYG1 homolog", "type": "synonym" }, { "name": "X-receptor", "type": "synonym" }, { "name": "Xenotropic and polytropic murine leukemia virus receptor X3", "type": "synonym" }, { "name": "Xenotropic and polytropic retrovirus receptor 1", "type": "synonym" }, { "name": "phosphate exporter SLC53A1", "type": "synonym" }, { "name": "protein SYG1 homolog", "type": "synonym" }, { "name": "solute carrier family 53 (phosphate exporter), member 1", "type": "synonym" }, { "name": "solute carrier family 53 member 1 isoform 2", "type": "synonym" }, { "name": "solute carrier family 53 member 1", "type": "synonym" }, { "name": "xenotropic and polytropic murine leukemia virus receptor X3", "type": "synonym" } ], "gene_names": [ { "name": "XPR1", "type": "recommended" }, { "name": "IBGC6", "type": "synonym" }, { "name": "SLC53A1", "type": "synonym" }, { "name": "SYG1", "type": "synonym" }, { "name": "X3", "type": "synonym" }, { "name": "XPR1", "type": "synonym" } ], "record_id": "Q9UBH6-1", "evidence": [ { "id": "0060230", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060230" } ] }, { "uniprot_canonical_ac": "P57087-1", "uniprot_ac": "P57087", "uniprot_id": "JAM2_HUMAN", "refseq_ac": "NP_001257336", "glycoprotein": "yes", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "Junctional adhesion molecule B", "type": "recommended" }, { "name": "JAM-2", "type": "synonym" }, { "name": "JAM-B", "type": "synonym" }, { "name": "JAM-IT/VE-JAM", "type": "synonym" }, { "name": "Junctional adhesion molecule 2", "type": "synonym" }, { "name": "VE-JAM", "type": "synonym" }, { "name": "Vascular endothelial junction-associated molecule", "type": "synonym" }, { "name": "junctional adhesion molecule B isoform 2 precursor", "type": "synonym" }, { "name": "junctional adhesion molecule B", "type": "synonym" }, { "name": "vascular endothelial junction-associated molecule", "type": "synonym" } ], "gene_names": [ { "name": "JAM2", "type": "recommended" }, { "name": "C21orf43", "type": "synonym" }, { "name": "CD322", "type": "synonym" }, { "name": "IBGC8", "type": "synonym" }, { "name": "JAM-B", "type": "synonym" }, { "name": "JAM2", "type": "synonym" }, { "name": "JAMB", "type": "synonym" }, { "name": "PRO245", "type": "synonym" }, { "name": "VE-JAM", "type": "synonym" }, { "name": "VEJAM", "type": "synonym" } ], "record_id": "P57087-1", "evidence": [ { "id": "0060230", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060230" } ] } ], "glycans": [], "biomarkers": [], "association_flag": "1000", "record_id": "doid.0060230" }