{ "disease_id": "DOID:0060284", "recommended_name": { "id": "DOID:0060284", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0060284", "name": "paroxysmal nocturnal hemoglobinuria", "description": "An acquired hemolytic anemia that is characterized by abdominal pain, hematuria, esophageal dysmotility and thrombosis, has_material_basis_in defect in the cell membrane glycosyl phosphatidylinositols that protect red blood cells from the innate complement immune system." }, "synonyms": [ { "id": "MONDO:0010438", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010438", "name": "paroxysmal nocturnal hemoglobinuria 1", "description": "Any paroxysmal nocturnal hemoglobinuria in which the cause of the disease is a mutation in the PIGA gene." }, { "id": "MONDO:0010438", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010438", "name": "PIGA paroxysmal nocturnal hemoglobinuria", "description": "" }, { "id": "MONDO:0010438", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010438", "name": "pIgA paroxysmal nocturnal hemoglobinuria", "description": "" }, { "id": "MONDO:0010438", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010438", "name": "paroxysmal nocturnal hemoglobinuria 1", "description": "" }, { "id": "MONDO:0010438", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010438", "name": "paroxysmal nocturnal hemoglobinuria caused by mutation in PIGA", "description": "" }, { "id": "MONDO:0010438", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010438", "name": "paroxysmal nocturnal hemoglobinuria caused by mutation in pIgA", "description": "" }, { "id": "MONDO:0010438", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010438", "name": "paroxysmal nocturnal hemoglobinuria type 1", "description": "" }, { "id": "MONDO:0010438", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010438", "name": "paroxysmal nocturnal hemoglobinuria, somatic", "description": "" }, { "id": "MONDO:0010438", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010438", "name": "PNH1", "description": "" }, { "id": "MONDO:0014166", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014166", "name": "paroxysmal nocturnal hemoglobinuria 2", "description": "Any paroxysmal nocturnal hemoglobinuria in which the cause of the disease is a mutation in the PIGT gene." }, { "id": "MONDO:0014166", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014166", "name": "PIGT paroxysmal nocturnal hemoglobinuria", "description": "" }, { "id": "MONDO:0014166", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014166", "name": "paroxysmal nocturnal hemoglobinuria 2", "description": "" }, { "id": "MONDO:0014166", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014166", "name": "paroxysmal nocturnal hemoglobinuria 2, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0014166", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014166", "name": "paroxysmal nocturnal hemoglobinuria caused by mutation in PIGT", "description": "" }, { "id": "MONDO:0014166", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014166", "name": "paroxysmal nocturnal hemoglobinuria type 2", "description": "" }, { "id": "MONDO:0014166", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014166", "name": "PNH2", "description": "" }, { "id": "MIM:300818", "resource": "MIM", "url": "https://www.omim.org/entry/300818", "name": "Paroxysmal nocturnal hemoglobinuria 1", "description": "Paroxysmal nocturnal hemoglobinuria 1" }, { "id": "MIM:615399", "resource": "MIM", "url": "https://www.omim.org/entry/615399", "name": "Paroxysmal nocturnal hemoglobinuria 2", "description": "Paroxysmal nocturnal hemoglobinuria 2" } ], "children": [], "id_list": [ "DOID:0060284" ], "unlinked_id_list": [], "crossref": [ { "id": "DOID:0060284", "database": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0060284", "categories": [] }, { "id": "MONDO:0010438", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010438", "categories": [] }, { "id": "MONDO:0014166", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014166", "categories": [] }, { "id": "MIM:300818", "database": "MIM", "url": "https://www.omim.org/entry/300818", "categories": [] }, { "id": "MIM:615399", "database": "MIM", "url": "https://www.omim.org/entry/615399", "categories": [] } ], "proteins": [ { "uniprot_canonical_ac": "P37287-1", "uniprot_ac": "P37287", "uniprot_id": "PIGA_HUMAN", "refseq_ac": "NP_002632", "glycoprotein": "yes", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "Phosphatidylinositol N-acetylglucosaminyltransferase subunit A", "type": "recommended" }, { "name": "2.4.1.198", "type": "synonym" }, { "name": "GLCNAC-PI synthesis protein", "type": "synonym" }, { "name": "GPI anchor biosynthesis", "type": "synonym" }, { "name": "GlcNAc-PI synthesis protein", "type": "synonym" }, { "name": "PIG-A", "type": "synonym" }, { "name": "Phosphatidylinositol-glycan biosynthesis class A protein", "type": "synonym" }, { "name": "class A GlcNAc-inositol phospholipid assembly protein", "type": "synonym" }, { "name": "phosphatidylinositol N-acetylglucosaminyltransferase subunit A isoform 1", "type": "synonym" }, { "name": "phosphatidylinositol N-acetylglucosaminyltransferase subunit A", "type": "synonym" }, { "name": "phosphatidylinositol-glycan biosynthesis, class A protein", "type": "synonym" } ], "gene_names": [ { "name": "PIGA", "type": "recommended" }, { "name": "GPI3", "type": "synonym" }, { "name": "MCAHS2", "type": "synonym" }, { "name": "NEDEPH", "type": "synonym" }, { "name": "PIG-A", "type": "synonym" }, { "name": "PIGA", "type": "synonym" }, { "name": "PNH1", "type": "synonym" } ], "record_id": "P37287-1", "evidence": [ { "id": "5277", "database": "GlyCosmos", "url": "https://glycosmos.org/glycogenes/show/5277#disease" }, { "id": "0010438", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010438" }, { "id": "300818", "database": "MIM", "url": "https://www.omim.org/entry/300818" }, { "id": "0060284", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060284" } ] }, { "uniprot_canonical_ac": "E7FCV2-1", "uniprot_ac": "E7FCV2", "uniprot_id": "E7FCV2_DANRE", "refseq_ac": "XP_001919226", "glycoprotein": "no", "species": [ { "name": "Danio rerio", "taxid": 7955, "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "protein_names": [ { "name": "Complement C5", "type": "synonym" }, { "name": "complement C5", "type": "synonym" } ], "gene_names": [ { "name": "c5", "type": "recommended" }, { "name": "c5", "type": "synonym" } ], "record_id": "E7FCV2-1", "evidence": [ { "id": "0060284", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060284" } ] }, { "uniprot_canonical_ac": "Q8WM94-1", "uniprot_ac": "Q8WM94", "uniprot_id": "Q8WM94_DANRE", "refseq_ac": "NP_001007206", "glycoprotein": "no", "species": [ { "name": "Danio rerio", "taxid": 7955, "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "protein_names": [ { "name": "MHC class II", "type": "synonym" }, { "name": "Uncharacterized protein LOC368614 precursor", "type": "synonym" }, { "name": "alpha chain", "type": "synonym" }, { "name": "uncharacterized protein LOC368614 precursor", "type": "synonym" } ], "gene_names": [ { "name": "mhc2dga", "type": "recommended" }, { "name": "MHCII", "type": "synonym" }, { "name": "mhc2d8.35a2", "type": "synonym" }, { "name": "mhc2dga", "type": "synonym" }, { "name": "si:busm1-194e12.11", "type": "synonym" }, { "name": "si:busm1-48c11.3", "type": "synonym" }, { "name": "si:dz194e12.11", "type": "synonym" }, { "name": "si:dz48c11.3", "type": "synonym" } ], "record_id": "Q8WM94-1", "evidence": [ { "id": "0060284", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060284" } ] }, { "uniprot_canonical_ac": "A0AB32TP70-1", "uniprot_ac": "A0AB32TP70", "uniprot_id": "A0AB32TP70_DANRE", "refseq_ac": "", "glycoprotein": "no", "species": [ { "name": "Danio rerio", "taxid": 7955, "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "protein_names": [ { "name": "Uncharacterized protein isoform X1", "type": "synonym" } ], "gene_names": [ { "name": "hla-dpa1", "type": "recommended" }, { "name": "zgc:123107", "type": "synonym" } ], "record_id": "A0AB32TP70-1", "evidence": [ { "id": "0060284", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060284" } ] }, { "uniprot_canonical_ac": "A0A8M2B5P7-1", "uniprot_ac": "A0A8M2B5P7", "uniprot_id": "A0A8M2B5P7_DANRE", "refseq_ac": "XP_005159251", "glycoprotein": "no", "species": [ { "name": "Danio rerio", "taxid": 7955, "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "protein_names": [ { "name": "Major histocompatibility complex class II DBB isoform X1", "type": "synonym" }, { "name": "major histocompatibility complex class II DBB isoform X1", "type": "synonym" } ], "gene_names": [ { "name": "mhc2dbb", "type": "recommended" }, { "name": "DBB", "type": "synonym" }, { "name": "mhc2d18b", "type": "synonym" }, { "name": "mhc2dbb", "type": "synonym" }, { "name": "si:busm1-241h12.1", "type": "synonym" }, { "name": "si:dz241h12.1", "type": "synonym" }, { "name": "zgc:153067", "type": "synonym" } ], "record_id": "A0A8M2B5P7-1", "evidence": [ { "id": "0060284", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060284" } ] }, { "uniprot_canonical_ac": "A0A8M1NAM7-1", "uniprot_ac": "A0A8M1NAM7", "uniprot_id": "A0A8M1NAM7_DANRE", "refseq_ac": "NP_001071221", "glycoprotein": "no", "species": [ { "name": "Danio rerio", "taxid": 7955, "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "protein_names": [ { "name": "MHC class II", "type": "synonym" }, { "name": "Uncharacterized protein LOC368846 precursor", "type": "synonym" }, { "name": "uncharacterized protein LOC368846 precursor", "type": "synonym" } ], "gene_names": [ { "name": "mhc2d8.45b1", "type": "recommended" }, { "name": "mhc2d8.45b1", "type": "synonym" }, { "name": "si:busm1-228j01.6", "type": "synonym" }, { "name": "si:dz228j01.6", "type": "synonym" } ], "record_id": "A0A8M1NAM7-1", "evidence": [ { "id": "0060284", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060284" } ] }, { "uniprot_canonical_ac": "A0ACD6B7V1-1", "uniprot_ac": "A0ACD6B7V1", "uniprot_id": "A0ACD6B7V1_DANRE", "refseq_ac": "XP_684608", "glycoprotein": "no", "species": [ { "name": "Danio rerio", "taxid": 7955, "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "protein_names": [ { "name": "GPI transamidase component PIG-T isoform X1", "type": "synonym" } ], "gene_names": [ { "name": "pigt", "type": "recommended" }, { "name": "pigt", "type": "synonym" } ], "record_id": "A0ACD6B7V1-1", "evidence": [ { "id": "0060284", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060284" } ] }, { "uniprot_canonical_ac": "B0S6Z8-1", "uniprot_ac": "B0S6Z8", "uniprot_id": "B0S6Z8_DANRE", "refseq_ac": "NP_001119918", "glycoprotein": "no", "species": [ { "name": "Danio rerio", "taxid": 7955, "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "protein_names": [ { "name": "Phosphatidylinositol N-acetylglucosaminyltransferase subunit A", "type": "recommended" }, { "name": "2.4.1.198", "type": "synonym" }, { "name": "GlcNAc-PI synthesis protein", "type": "synonym" }, { "name": "Phosphatidylinositol-glycan biosynthesis class A protein", "type": "synonym" }, { "name": "phosphatidylinositol N-acetylglucosaminyltransferase subunit A", "type": "synonym" } ], "gene_names": [ { "name": "piga", "type": "recommended" }, { "name": "im:6911675", "type": "synonym" }, { "name": "piga", "type": "synonym" }, { "name": "zgc:56589", "type": "synonym" } ], "record_id": "B0S6Z8-1", "evidence": [ { "id": "0060284", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060284" } ] }, { "uniprot_canonical_ac": "F1QX13-1", "uniprot_ac": "F1QX13", "uniprot_id": "F1QX13_DANRE", "refseq_ac": "NP_001032313", "glycoprotein": "no", "species": [ { "name": "Danio rerio", "taxid": 7955, "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "protein_names": [ { "name": "Complement C3a.3 precursor", "type": "synonym" }, { "name": "c3.3", "type": "synonym" }, { "name": "complement C3a.3 precursor", "type": "synonym" }, { "name": "complement component C3-2", "type": "synonym" }, { "name": "complement component c3a, duplicate 3", "type": "synonym" }, { "name": "complement component c3c", "type": "synonym" } ], "gene_names": [ { "name": "c3a.3", "type": "recommended" }, { "name": "C3-3", "type": "synonym" }, { "name": "c3-2", "type": "synonym" }, { "name": "c3a.3", "type": "synonym" }, { "name": "c3c", "type": "synonym" }, { "name": "unp301", "type": "synonym" }, { "name": "zgc:103610", "type": "synonym" } ], "record_id": "F1QX13-1", "evidence": [ { "id": "0060284", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060284" } ] }, { "uniprot_canonical_ac": "A0A0R4IMB2-1", "uniprot_ac": "A0A0R4IMB2", "uniprot_id": "A0A0R4IMB2_DANRE", "refseq_ac": "NP_001008582", "glycoprotein": "no", "species": [ { "name": "Danio rerio", "taxid": 7955, "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "protein_names": [ { "name": "Complement component c3a, duplicate 6 precursor", "type": "synonym" }, { "name": "c3.6", "type": "synonym" }, { "name": "complement component c3a, duplicate 6 precursor", "type": "synonym" }, { "name": "complement component c3a, duplicate 6", "type": "synonym" } ], "gene_names": [ { "name": "c3a.6", "type": "recommended" }, { "name": "c3a.6", "type": "synonym" }, { "name": "zgc:103710", "type": "synonym" }, { "name": "zgc:153510", "type": "synonym" } ], "record_id": "A0A0R4IMB2-1", "evidence": [ { "id": "0060284", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060284" } ] }, { "uniprot_canonical_ac": "A0A8M1P7C1-1", "uniprot_ac": "A0A8M1P7C1", "uniprot_id": "A0A8M1P7C1_DANRE", "refseq_ac": "NP_571317", "glycoprotein": "yes", "species": [ { "name": "Danio rerio", "taxid": 7955, "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "protein_names": [ { "name": "3.4.21.43", "type": "synonym" }, { "name": "Complement C3a.1 precursor", "type": "synonym" }, { "name": "c3.1", "type": "synonym" }, { "name": "complement C3a.1 precursor", "type": "synonym" }, { "name": "complement component 3", "type": "synonym" }, { "name": "complement component c3a, duplicate 1", "type": "synonym" } ], "gene_names": [ { "name": "c3a.1", "type": "recommended" }, { "name": "C3-1", "type": "synonym" }, { "name": "C3", "type": "synonym" }, { "name": "c3a.1", "type": "synonym" }, { "name": "c3a", "type": "synonym" }, { "name": "cb26", "type": "synonym" }, { "name": "sb:cb26", "type": "synonym" }, { "name": "si:dkey-76b14.4", "type": "synonym" }, { "name": "wu:fi34b03", "type": "synonym" }, { "name": "wu:fj86e11", "type": "synonym" } ], "record_id": "A0A8M1P7C1-1", "evidence": [ { "id": "0060284", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060284" } ] }, { "uniprot_canonical_ac": "A0A8M3B5N7-1", "uniprot_ac": "A0A8M3B5N7", "uniprot_id": "A0A8M3B5N7_DANRE", "refseq_ac": "XP_009294664", "glycoprotein": "no", "species": [ { "name": "Danio rerio", "taxid": 7955, "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "protein_names": [ { "name": "Complement C3b.1 isoform X1", "type": "synonym" }, { "name": "complement C3b.1 isoform X1", "type": "synonym" } ], "gene_names": [ { "name": "c3b.1", "type": "recommended" }, { "name": "c3b.1", "type": "synonym" }, { "name": "si:dkey-21e7.2", "type": "synonym" }, { "name": "wu:fb99g02", "type": "synonym" } ], "record_id": "A0A8M3B5N7-1", "evidence": [ { "id": "0060284", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060284" } ] }, { "uniprot_canonical_ac": "A0A8M3AN56-1", "uniprot_ac": "A0A8M3AN56", "uniprot_id": "A0A8M3AN56_DANRE", "refseq_ac": "XP_009294666", "glycoprotein": "yes", "species": [ { "name": "Danio rerio", "taxid": 7955, "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "protein_names": [ { "name": "Complement component c3b, tandem duplicate 2 isoform X1", "type": "synonym" }, { "name": "complement component c3b, tandem duplicate 2 isoform X1", "type": "synonym" } ], "gene_names": [ { "name": "c3b.2", "type": "recommended" }, { "name": "c3b.2", "type": "synonym" }, { "name": "si:ch211-140f21.1", "type": "synonym" }, { "name": "wu:fc26b08", "type": "synonym" } ], "record_id": "A0A8M3AN56-1", "evidence": [ { "id": "0060284", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060284" } ] }, { "uniprot_canonical_ac": "A2AS37-1", "uniprot_ac": "A2AS37", "uniprot_id": "A2AS37_MOUSE", "refseq_ac": "NP_849216", "glycoprotein": "no", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Expressed sequence AI182371", "type": "synonym" }, { "name": "hemolytic complement-like isoform 1 precursor", "type": "synonym" } ], "gene_names": [ { "name": "AI182371", "type": "recommended" }, { "name": "AI182371", "type": "synonym" } ], "record_id": "A2AS37-1", "evidence": [ { "id": "0060284", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060284" } ] }, { "uniprot_canonical_ac": "P06684-1", "uniprot_ac": "P06684", "uniprot_id": "CO5_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": "Complement C5", "type": "recommended" }, { "name": "Complement C5 alpha' chain", "type": "synonym" }, { "name": "Hemolytic complement", "type": "synonym" } ], "gene_names": [ { "name": "C5", "type": "recommended" }, { "name": "Hc", "type": "recommended" }, { "name": "Hc", "type": "synonym" } ], "record_id": "P06684-1", "evidence": [ { "id": "0060284", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060284" } ] }, { "uniprot_canonical_ac": "P01921-1", "uniprot_ac": "P01921", "uniprot_id": "HB2D_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": "H-2 class II histocompatibility antigen, A-D beta chain", "type": "recommended" } ], "gene_names": [ { "name": "H2-Ab1", "type": "recommended" }, { "name": "H2-iabeta", "type": "synonym" } ], "record_id": "P01921-1", "evidence": [ { "id": "0060284", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060284" } ] }, { "uniprot_canonical_ac": "P01910-1", "uniprot_ac": "P01910", "uniprot_id": "HA2K_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": "H-2 class II histocompatibility antigen, A-K alpha chain", "type": "recommended" } ], "gene_names": [ { "name": "H2-Aa", "type": "recommended" } ], "record_id": "P01910-1", "evidence": [ { "id": "0060284", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060284" } ] }, { "uniprot_canonical_ac": "Q8BXQ2-1", "uniprot_ac": "Q8BXQ2", "uniprot_id": "PIGT_MOUSE", "refseq_ac": "NP_598540", "glycoprotein": "yes", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "GPI-anchor transamidase component PIGT", "type": "recommended" }, { "name": "GPI transamidase component PIG-T", "type": "synonym" }, { "name": "GPI-anchor transamidase component PIGT isoform 1 precursor", "type": "synonym" }, { "name": "GPI-anchor transamidase component PIGT", "type": "synonym" }, { "name": "Neuronal development-associated protein 7", "type": "synonym" }, { "name": "Phosphatidylinositol-glycan biosynthesis class T protein", "type": "synonym" }, { "name": "neuronal development-associated protein 7", "type": "synonym" }, { "name": "phosphatidylinositol-glycan biosynthesis class T protein", "type": "synonym" } ], "gene_names": [ { "name": "Pigt", "type": "recommended" }, { "name": "2510012P17Rik", "type": "synonym" }, { "name": "4930534E15Rik", "type": "synonym" }, { "name": "CGI-06", "type": "synonym" }, { "name": "NDAP", "type": "synonym" }, { "name": "Ndap7", "type": "synonym" }, { "name": "Pigt", "type": "synonym" } ], "record_id": "Q8BXQ2-1", "evidence": [ { "id": "0060284", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060284" } ] }, { "uniprot_canonical_ac": "Q64323-1", "uniprot_ac": "Q64323", "uniprot_id": "PIGA_MOUSE", "refseq_ac": "NP_035211", "glycoprotein": "no", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Phosphatidylinositol N-acetylglucosaminyltransferase subunit A", "type": "recommended" }, { "name": "2.4.1.198", "type": "synonym" }, { "name": "GlcNAc-PI synthesis protein", "type": "synonym" }, { "name": "N-acetylglucosaminyl-phosphatidylinositol biosynthetic protein", "type": "synonym" }, { "name": "PIG-A", "type": "synonym" }, { "name": "Phosphatidylinositol-glycan biosynthesis class A protein", "type": "synonym" }, { "name": "glcNAc-PI synthesis protein", "type": "synonym" }, { "name": "phosphatidylinositol N-acetylglucosaminyltransferase subunit A", "type": "synonym" }, { "name": "phosphatidylinositol glycan, class A", "type": "synonym" }, { "name": "phosphatidylinositol-glycan biosynthesis class A protein", "type": "synonym" }, { "name": "phosphatidylinositolglycan class A", "type": "synonym" } ], "gene_names": [ { "name": "Piga", "type": "recommended" }, { "name": "Pig-a", "type": "synonym" }, { "name": "Piga", "type": "synonym" } ], "record_id": "Q64323-1", "evidence": [ { "id": "0060284", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060284" } ] }, { "uniprot_canonical_ac": "P01027-1", "uniprot_ac": "P01027", "uniprot_id": "CO3_MOUSE", "refseq_ac": "NP_033908", "glycoprotein": "yes", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Complement C3", "type": "recommended" }, { "name": "C3adesArg", "type": "synonym" }, { "name": "Complement C3b-alpha' chain", "type": "synonym" }, { "name": "HSE-MSF", "type": "synonym" }, { "name": "acylation stimulating protein", "type": "synonym" }, { "name": "complement C3 preproprotein", "type": "synonym" }, { "name": "complement C3", "type": "synonym" }, { "name": "complement component 3d", "type": "synonym" }, { "name": "complement factor 3", "type": "synonym" } ], "gene_names": [ { "name": "C3", "type": "recommended" }, { "name": "ASP", "type": "synonym" }, { "name": "C3", "type": "synonym" }, { "name": "HSE-MSF", "type": "synonym" }, { "name": "Plp", "type": "synonym" } ], "record_id": "P01027-1", "evidence": [ { "id": "0060284", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060284" } ] }, { "uniprot_canonical_ac": "P70658-1", "uniprot_ac": "P70658", "uniprot_id": "CXCR4_MOUSE", "refseq_ac": "NP_034041", "glycoprotein": "yes", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "C-X-C chemokine receptor type 4", "type": "recommended" }, { "name": "C-X-C chemokine receptor type 4 isoform 1", "type": "synonym" }, { "name": "C-X-C chemokine receptor type 4", "type": "synonym" }, { "name": "CXC-R4", "type": "synonym" }, { "name": "CXCR-4", "type": "synonym" }, { "name": "Fusin", "type": "synonym" }, { "name": "LESTR", "type": "synonym" }, { "name": "Leukocyte-derived seven transmembrane domain receptor", "type": "synonym" }, { "name": "PB-CKR", "type": "synonym" }, { "name": "Pre-B-cell-derived chemokine receptor", "type": "synonym" }, { "name": "SDF-1 receptor", "type": "synonym" }, { "name": "Stromal cell-derived factor 1 receptor", "type": "synonym" }, { "name": "chemokine (C-X-C motif) receptor 4", "type": "synonym" }, { "name": "chemokine (C-X-C) receptor 4", "type": "synonym" }, { "name": "chemokine receptor 4", "type": "synonym" }, { "name": "fusin", "type": "synonym" }, { "name": "leukocyte-derived seven transmembrane domain receptor", "type": "synonym" }, { "name": "leukocyte-expressed seven-transmembrane-domain", "type": "synonym" }, { "name": "pre-B-cell-derived chemokine receptor", "type": "synonym" }, { "name": "stromal cell-derived factor 1 receptor", "type": "synonym" } ], "gene_names": [ { "name": "Cxcr4", "type": "recommended" }, { "name": "CD184", "type": "synonym" }, { "name": "CXC-R4", "type": "synonym" }, { "name": "CXCR-4", "type": "synonym" }, { "name": "Cmkar4", "type": "synonym" }, { "name": "Cxcr4", "type": "synonym" }, { "name": "LESTR", "type": "synonym" }, { "name": "Lestr", "type": "synonym" }, { "name": "PB-CKR", "type": "synonym" }, { "name": "PBSF/SDF-1", "type": "synonym" }, { "name": "Sdf1r", "type": "synonym" }, { "name": "b2b220Clo", "type": "synonym" } ], "record_id": "P70658-1", "evidence": [ { "id": "0060284", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060284" } ] }, { "uniprot_canonical_ac": "Q969N2-1", "uniprot_ac": "Q969N2", "uniprot_id": "PIGT_HUMAN", "refseq_ac": "NP_001171657", "glycoprotein": "yes", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "GPI-anchor transamidase component PIGT", "type": "recommended" }, { "name": "GPI transamidase component PIG-T", "type": "synonym" }, { "name": "GPI transamidase subunit", "type": "synonym" }, { "name": "GPI-anchor transamidase component PIGT isoform 2 precursor", "type": "synonym" }, { "name": "GPI-anchor transamidase component PIGT", "type": "synonym" }, { "name": "Phosphatidylinositol-glycan biosynthesis class T protein", "type": "synonym" }, { "name": "neurotrophin-regulated neuronal development-associated protein", "type": "synonym" }, { "name": "phosphatidylinositol-glycan biosynthesis class T protein", "type": "synonym" } ], "gene_names": [ { "name": "PIGT", "type": "recommended" }, { "name": "CGI-06", "type": "synonym" }, { "name": "MCAHS3", "type": "synonym" }, { "name": "NDAP", "type": "synonym" }, { "name": "PIG-T", "type": "synonym" }, { "name": "PIGT", "type": "synonym" }, { "name": "PNH2", "type": "synonym" }, { "name": "PRO1379", "type": "synonym" }, { "name": "PSEC0163", "type": "synonym" } ], "record_id": "Q969N2-1", "evidence": [ { "id": "0014166", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014166" }, { "id": "615399", "database": "MIM", "url": "https://www.omim.org/entry/615399" }, { "id": "0060284", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060284" } ] }, { "uniprot_canonical_ac": "P32363-1", "uniprot_ac": "P32363", "uniprot_id": "GPI3_YEAST", "refseq_ac": "NP_015150", "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": "Phosphatidylinositol N-acetylglucosaminyltransferase GPI3 subunit", "type": "recommended" }, { "name": "2.4.1.198", "type": "synonym" }, { "name": "GPI-GlcNAc transferase complex subunit GPI3", "type": "synonym" }, { "name": "GPI-GnT subunit GPI3", "type": "synonym" }, { "name": "GlcNAc-PI synthesis protein", "type": "synonym" }, { "name": "phosphatidylinositol N-acetylglucosaminyltransferase SPT14", "type": "synonym" } ], "gene_names": [ { "name": "SPT14", "type": "recommended" }, { "name": "CWH6", "type": "synonym" }, { "name": "GPI3", "type": "synonym" }, { "name": "P2269", "type": "synonym" }, { "name": "SPT14", "type": "synonym" } ], "record_id": "P32363-1", "evidence": [ { "id": "0060284", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060284" } ] }, { "uniprot_canonical_ac": "P38875-1", "uniprot_ac": "P38875", "uniprot_id": "GPI16_YEAST", "refseq_ac": "NP_012058", "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": "GPI transamidase component GPI16", "type": "recommended" }, { "name": "GPI-anchor transamidase subunit GPI16", "type": "synonym" } ], "gene_names": [ { "name": "GPI16", "type": "recommended" }, { "name": "GPI16", "type": "synonym" } ], "record_id": "P38875-1", "evidence": [ { "id": "0060284", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060284" } ] }, { "uniprot_canonical_ac": "P08650-1", "uniprot_ac": "P08650", "uniprot_id": "CO5_RAT", "refseq_ac": "", "glycoprotein": "yes", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "Complement C5", "type": "recommended" }, { "name": "Complement C5 alpha' chain", "type": "synonym" } ], "gene_names": [ { "name": "C5", "type": "recommended" } ], "record_id": "P08650-1", "evidence": [ { "id": "0060284", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060284" } ] }, { "uniprot_canonical_ac": "P29826-1", "uniprot_ac": "P29826", "uniprot_id": "HB2B_RAT", "refseq_ac": "", "glycoprotein": "yes", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "Rano class II histocompatibility antigen, B-1 beta chain", "type": "recommended" }, { "name": "RT1 class II histocompatibility antigen, B-1 beta chain", "type": "synonym" }, { "name": "RT1.B-beta(1)", "type": "synonym" } ], "gene_names": [ { "name": "RT1-Bb", "type": "recommended" } ], "record_id": "P29826-1", "evidence": [ { "id": "0060284", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060284" } ] }, { "uniprot_canonical_ac": "P20037-1", "uniprot_ac": "P20037", "uniprot_id": "HA2B_RAT", "refseq_ac": "", "glycoprotein": "yes", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "Rano class II histocompatibility antigen, B alpha chain", "type": "recommended" }, { "name": "RT1 class II antigen, Ba chain", "type": "synonym" } ], "gene_names": [ { "name": "RT1-Ba", "type": "recommended" } ], "record_id": "P20037-1", "evidence": [ { "id": "0060284", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060284" } ] }, { "uniprot_canonical_ac": "P06341-1", "uniprot_ac": "P06341", "uniprot_id": "HB2A_RAT", "refseq_ac": "", "glycoprotein": "yes", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "Rano class II histocompatibility antigen, A beta chain", "type": "recommended" }, { "name": "RT1 class II histocompatibility antigen, A beta chain", "type": "synonym" } ], "gene_names": [ { "name": "RT1-B", "type": "recommended" } ], "record_id": "P06341-1", "evidence": [ { "id": "0060284", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060284" } ] }, { "uniprot_canonical_ac": "A0A8I6GIH3-1", "uniprot_ac": "A0A8I6GIH3", "uniprot_id": "A0A8I6GIH3_RAT", "refseq_ac": "", "glycoprotein": "yes", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "Phosphatidylinositol glycan anchor biosynthesis, class T", "type": "synonym" } ], "gene_names": [ { "name": "Pigt", "type": "recommended" } ], "record_id": "A0A8I6GIH3-1", "evidence": [ { "id": "0060284", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060284" } ] }, { "uniprot_canonical_ac": "A0A8I6ADP6-1", "uniprot_ac": "A0A8I6ADP6", "uniprot_id": "A0A8I6ADP6_RAT", "refseq_ac": "NP_001387965", "glycoprotein": "no", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "Phosphatidylinositol N-acetylglucosaminyltransferase subunit A", "type": "recommended" }, { "name": "2.4.1.198", "type": "synonym" }, { "name": "GlcNAc-PI synthesis protein", "type": "synonym" }, { "name": "N-acetylglucosaminyl-phosphatidylinositol biosynthetic protein", "type": "synonym" }, { "name": "Phosphatidylinositol-glycan biosynthesis class A protein", "type": "synonym" }, { "name": "phosphatidylinositol N-acetylglucosaminyltransferase subunit A isoform 1", "type": "synonym" }, { "name": "phosphatidylinositol N-acetylglucosaminyltransferase subunit A", "type": "synonym" }, { "name": "phosphatidylinositol glycan, class A", "type": "synonym" } ], "gene_names": [ { "name": "Piga", "type": "recommended" }, { "name": "Piga", "type": "synonym" } ], "record_id": "A0A8I6ADP6-1", "evidence": [ { "id": "0060284", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060284" } ] }, { "uniprot_canonical_ac": "P01026-1", "uniprot_ac": "P01026", "uniprot_id": "CO3_RAT", "refseq_ac": "NP_058690", "glycoprotein": "yes", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "Complement C3", "type": "recommended" }, { "name": "C3adesArg", "type": "synonym" }, { "name": "Complement C3b-alpha' chain", "type": "synonym" }, { "name": "ENCF-1", "type": "synonym" }, { "name": "ENCF-2", "type": "synonym" }, { "name": "Neutrophil chemotactic factor-1", "type": "synonym" }, { "name": "Neutrophil chemotactic factor-2", "type": "synonym" }, { "name": "complement C3 precursor", "type": "synonym" }, { "name": "complement component 3", "type": "synonym" } ], "gene_names": [ { "name": "C3", "type": "recommended" }, { "name": "C3", "type": "synonym" } ], "record_id": "P01026-1", "evidence": [ { "id": "0060284", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060284" } ] }, { "uniprot_canonical_ac": "O08565-1", "uniprot_ac": "O08565", "uniprot_id": "CXCR4_RAT", "refseq_ac": "NP_071541", "glycoprotein": "yes", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "C-X-C chemokine receptor type 4", "type": "recommended" }, { "name": "C-X-C chemokine receptor type 4", "type": "synonym" }, { "name": "CXC chemokine receptor", "type": "synonym" }, { "name": "CXC-R4", "type": "synonym" }, { "name": "CXCR-4", "type": "synonym" }, { "name": "Fusin", "type": "synonym" }, { "name": "LESTR", "type": "synonym" }, { "name": "Leukocyte-derived seven transmembrane domain receptor", "type": "synonym" }, { "name": "SDF-1 receptor", "type": "synonym" }, { "name": "Stromal cell-derived factor 1 receptor", "type": "synonym" }, { "name": "chemokine (C-X-C motif) receptor 4", "type": "synonym" }, { "name": "chemokine receptor (LCR1)", "type": "synonym" }, { "name": "fusin", "type": "synonym" }, { "name": "leukocyte-derived seven transmembrane domain receptor", "type": "synonym" }, { "name": "stromal cell-derived factor 1 receptor", "type": "synonym" } ], "gene_names": [ { "name": "Cxcr4", "type": "recommended" }, { "name": "Cmkar4", "type": "synonym" }, { "name": "Cxcr4", "type": "synonym" } ], "record_id": "O08565-1", "evidence": [ { "id": "0060284", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060284" } ] }, { "uniprot_canonical_ac": "P06494-1", "uniprot_ac": "P06494", "uniprot_id": "ERBB2_RAT", "refseq_ac": "", "glycoprotein": "yes", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "Receptor tyrosine-protein kinase erbB-2", "type": "recommended" }, { "name": "2.7.10.1", "type": "synonym" }, { "name": "Epidermal growth factor receptor-related protein", "type": "synonym" }, { "name": "Proto-oncogene Neu", "type": "synonym" }, { "name": "Proto-oncogene c-ErbB-2", "type": "synonym" }, { "name": "p185erbB2", "type": "synonym" }, { "name": "p185neu", "type": "synonym" } ], "gene_names": [ { "name": "Erbb2", "type": "recommended" }, { "name": "Neu", "type": "synonym" } ], "record_id": "P06494-1", "evidence": [ { "id": "0060284", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060284" } ] }, { "uniprot_canonical_ac": "Q9W3G0-1", "uniprot_ac": "Q9W3G0", "uniprot_id": "Q9W3G0_DROME", "refseq_ac": "NP_572475", "glycoprotein": "no", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "CG11190-PA", "type": "synonym" }, { "name": "PIG-T-PA", "type": "synonym" }, { "name": "Phosphatidylinositol glycan anchor biosynthesis class T", "type": "synonym" }, { "name": "phosphatidylinositol glycan anchor biosynthesis class T", "type": "synonym" } ], "gene_names": [ { "name": "PIG-T", "type": "recommended" }, { "name": "27-522", "type": "synonym" }, { "name": "CG11190", "type": "synonym" }, { "name": "Dm*AAF46367/27-522", "type": "synonym" }, { "name": "DmPIG-T", "type": "synonym" }, { "name": "Dmel\\CG11190", "type": "synonym" }, { "name": "Dmel_CG11190", "type": "synonym" }, { "name": "PIG-T", "type": "synonym" }, { "name": "PIGT", "type": "synonym" } ], "record_id": "Q9W3G0-1", "evidence": [ { "id": "0060284", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060284" } ] }, { "uniprot_canonical_ac": "Q9UBF2-1", "uniprot_ac": "Q9UBF2", "uniprot_id": "COPG2_HUMAN", "refseq_ac": "NP_001276962", "glycoprotein": "yes", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "Coatomer subunit gamma-2", "type": "recommended" }, { "name": "COPI coat complex subunit gamma 2", "type": "synonym" }, { "name": "Gamma-2-COP", "type": "synonym" }, { "name": "Gamma-2-coat protein", "type": "synonym" }, { "name": "coat protein, nonclathrin, gamma-2-cop", "type": "synonym" }, { "name": "coatomer protein complex subunit gamma 2", "type": "synonym" }, { "name": "coatomer subunit gamma-2 isoform 2", "type": "synonym" }, { "name": "coatomer subunit gamma-2", "type": "synonym" }, { "name": "gamma-2-coat protein", "type": "synonym" }, { "name": "testicular secretory protein Li 12", "type": "synonym" } ], "gene_names": [ { "name": "COPG2", "type": "recommended" }, { "name": "2-COP", "type": "synonym" }, { "name": "COPG2", "type": "synonym" }, { "name": "gamma-2-COP", "type": "synonym" } ], "record_id": "Q9UBF2-1", "evidence": [ { "id": "0060284", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060284" } ] }, { "uniprot_canonical_ac": "P03372-1", "uniprot_ac": "P03372", "uniprot_id": "ESR1_HUMAN", "refseq_ac": "NP_000116", "glycoprotein": "yes", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "Estrogen receptor", "type": "recommended" }, { "name": "E2 receptor alpha", "type": "synonym" }, { "name": "ER-alpha", "type": "synonym" }, { "name": "ER", "type": "synonym" }, { "name": "Estradiol receptor", "type": "synonym" }, { "name": "Nuclear receptor subfamily 3 group A member 1", "type": "synonym" }, { "name": "estradiol receptor", "type": "synonym" }, { "name": "estrogen nuclear receptor alpha", "type": "synonym" }, { "name": "estrogen receptor alpha E1-E2-1-2", "type": "synonym" }, { "name": "estrogen receptor alpha E1-N2-E2-1-2", "type": "synonym" }, { "name": "estrogen receptor isoform 1", "type": "synonym" }, { "name": "nuclear receptor subfamily 3 group A member 1", "type": "synonym" }, { "name": "oestrogen receptor alpha", "type": "synonym" } ], "gene_names": [ { "name": "ESR1", "type": "recommended" }, { "name": "ER", "type": "synonym" }, { "name": "ESR1", "type": "synonym" }, { "name": "ESRA", "type": "synonym" }, { "name": "ESR", "type": "synonym" }, { "name": "ESTRR", "type": "synonym" }, { "name": "Era", "type": "synonym" }, { "name": "NR3A1", "type": "synonym" } ], "record_id": "P03372-1", "evidence": [ { "id": "0060284", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060284" } ] }, { "uniprot_canonical_ac": "P35606-1", "uniprot_ac": "P35606", "uniprot_id": "COPB2_HUMAN", "refseq_ac": "NP_004757", "glycoprotein": "yes", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "Coatomer subunit beta'", "type": "recommended" }, { "name": "Beta'-COP", "type": "synonym" }, { "name": "Beta'-coat protein", "type": "synonym" }, { "name": "COPI coat complex subunit beta 2", "type": "synonym" }, { "name": "beta'-coat protein", "type": "synonym" }, { "name": "betaprime-COP", "type": "synonym" }, { "name": "coatomer binding complex, beta prime subunit", "type": "synonym" }, { "name": "coatomer protein complex subunit beta 2", "type": "synonym" }, { "name": "coatomer protein complex subunit beta prime", "type": "synonym" }, { "name": "coatomer protein complex, subunit beta 2 (beta prime)", "type": "synonym" }, { "name": "coatomer subunit beta' isoform 1", "type": "synonym" }, { "name": "coatomer subunit beta'", "type": "synonym" }, { "name": "p102", "type": "synonym" } ], "gene_names": [ { "name": "COPB2", "type": "recommended" }, { "name": "COPB2", "type": "synonym" }, { "name": "MCPH19", "type": "synonym" }, { "name": "OPDD", "type": "synonym" }, { "name": "beta'-COP", "type": "synonym" } ], "record_id": "P35606-1", "evidence": [ { "id": "0060284", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060284" } ] }, { "uniprot_canonical_ac": "P61073-1", "uniprot_ac": "P61073", "uniprot_id": "CXCR4_HUMAN", "refseq_ac": "NP_001008540", "glycoprotein": "yes", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "C-X-C chemokine receptor type 4", "type": "recommended" }, { "name": "C-X-C chemokine receptor type 4 isoform a", "type": "synonym" }, { "name": "C-X-C chemokine receptor type 4", "type": "synonym" }, { "name": "CD184 antigen", "type": "synonym" }, { "name": "CXC-R4", "type": "synonym" }, { "name": "CXCR-4", "type": "synonym" }, { "name": "FB22", "type": "synonym" }, { "name": "Fusin", "type": "synonym" }, { "name": "HM89", "type": "synonym" }, { "name": "LAP-3", "type": "synonym" }, { "name": "LCR1", "type": "synonym" }, { "name": "LESTR", "type": "synonym" }, { "name": "LPS-associated protein 3", "type": "synonym" }, { "name": "Leukocyte-derived seven transmembrane domain receptor", "type": "synonym" }, { "name": "Lipopolysaccharide-associated protein 3", "type": "synonym" }, { "name": "NPYRL", "type": "synonym" }, { "name": "SDF-1 receptor", "type": "synonym" }, { "name": "Stromal cell-derived factor 1 receptor", "type": "synonym" }, { "name": "chemokine (C-X-C motif) receptor 4", "type": "synonym" }, { "name": "fusin", "type": "synonym" }, { "name": "leukocyte-derived seven transmembrane domain receptor", "type": "synonym" }, { "name": "lipopolysaccharide-associated protein 3", "type": "synonym" }, { "name": "neuropeptide Y receptor Y3", "type": "synonym" }, { "name": "neuropeptide Y3 receptor", "type": "synonym" }, { "name": "seven transmembrane helix receptor", "type": "synonym" }, { "name": "seven-transmembrane-segment receptor, spleen", "type": "synonym" }, { "name": "stromal cell-derived factor 1 receptor", "type": "synonym" } ], "gene_names": [ { "name": "CXCR4", "type": "recommended" }, { "name": "CD184", "type": "synonym" }, { "name": "CXCR4", "type": "synonym" }, { "name": "D2S201E", "type": "synonym" }, { "name": "FB22", "type": "synonym" }, { "name": "HM89", "type": "synonym" }, { "name": "HSY3RR", "type": "synonym" }, { "name": "LCR1", "type": "synonym" }, { "name": "LESTR", "type": "synonym" }, { "name": "NPY3R", "type": "synonym" }, { "name": "NPYRL", "type": "synonym" }, { "name": "NPYR", "type": "synonym" }, { "name": "NPYY3R", "type": "synonym" }, { "name": "WHIMS1", "type": "synonym" }, { "name": "WHIMS", "type": "synonym" }, { "name": "WHIM", "type": "synonym" } ], "record_id": "P61073-1", "evidence": [ { "id": "0060284", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060284" } ] }, { "uniprot_canonical_ac": "P01024-1", "uniprot_ac": "P01024", "uniprot_id": "CO3_HUMAN", "refseq_ac": "NP_000055", "glycoprotein": "yes", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "Complement C3", "type": "recommended" }, { "name": "C3 and PZP-like alpha-2-macroglobulin domain-containing protein 1", "type": "synonym" }, { "name": "C3a anaphylatoxin", "type": "synonym" }, { "name": "C3adesArg", "type": "synonym" }, { "name": "Complement C3b-alpha' chain", "type": "synonym" }, { "name": "acylation-stimulating protein cleavage product", "type": "synonym" }, { "name": "complement C3 preproprotein", "type": "synonym" }, { "name": "complement component 3", "type": "synonym" }, { "name": "complement component C3a", "type": "synonym" }, { "name": "complement component C3b", "type": "synonym" }, { "name": "epididymis secretory sperm binding protein Li 62p", "type": "synonym" }, { "name": "prepro-C3", "type": "synonym" } ], "gene_names": [ { "name": "C3", "type": "recommended" }, { "name": "AHUS5", "type": "synonym" }, { "name": "ARMD9", "type": "synonym" }, { "name": "ASP", "type": "synonym" }, { "name": "C3a", "type": "synonym" }, { "name": "C3b", "type": "synonym" }, { "name": "C3", "type": "synonym" }, { "name": "CPAMD1", "type": "synonym" }, { "name": "HEL-S-62p", "type": "synonym" } ], "record_id": "P01024-1", "evidence": [ { "id": "0060284", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060284" } ] }, { "uniprot_canonical_ac": "P01920-1", "uniprot_ac": "P01920", "uniprot_id": "DQB1_HUMAN", "refseq_ac": "NP_001230891", "glycoprotein": "yes", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "HLA class II histocompatibility antigen, DQ beta 1 chain", "type": "recommended" }, { "name": "HLA class II histocompatibility antigen, DQ beta 1 chain isoform 1 precursor", "type": "synonym" }, { "name": "HLA class II histocompatibility antigen, DQ beta 1 chain", "type": "synonym" }, { "name": "MHC class II DQ beta chain", "type": "synonym" }, { "name": "MHC class II HLA-DQ beta glycoprotein", "type": "synonym" }, { "name": "MHC class II antigen DQB1", "type": "synonym" }, { "name": "MHC class II antigen HLA-DQ-beta-1", "type": "synonym" } ], "gene_names": [ { "name": "HLA-DQB1", "type": "recommended" }, { "name": "CELIAC1", "type": "synonym" }, { "name": "HLA-DQB1", "type": "synonym" }, { "name": "HLA-DQB", "type": "synonym" }, { "name": "IDDM1", "type": "synonym" } ], "record_id": "P01920-1", "evidence": [ { "id": "0060284", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060284" } ] }, { "uniprot_canonical_ac": "P01909-1", "uniprot_ac": "P01909", "uniprot_id": "DQA1_HUMAN", "refseq_ac": "NP_002113", "glycoprotein": "yes", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "HLA class II histocompatibility antigen, DQ alpha 1 chain", "type": "recommended" }, { "name": "DC-1 alpha chain", "type": "synonym" }, { "name": "DC-alpha", "type": "synonym" }, { "name": "HLA class II histocompatibility antigen DQ alpha chain", "type": "synonym" }, { "name": "HLA class II histocompatibility antigen, DQ alpha 1 chain precursor", "type": "synonym" }, { "name": "HLA class II histocompatibility antigen, DQ alpha 1 chain", "type": "synonym" }, { "name": "HLA-DCA", "type": "synonym" }, { "name": "MHC HLA-DQ alpha", "type": "synonym" }, { "name": "MHC class II DQ alpha chain", "type": "synonym" }, { "name": "MHC class II DQA1", "type": "synonym" }, { "name": "MHC class II HLA-DQ-alpha-1", "type": "synonym" }, { "name": "MHC class II antigen DQA1", "type": "synonym" }, { "name": "MHC class II protein", "type": "synonym" } ], "gene_names": [ { "name": "HLA-DQA1", "type": "recommended" }, { "name": "CELIAC1", "type": "synonym" }, { "name": "DQ-A1", "type": "synonym" }, { "name": "DQA1", "type": "synonym" }, { "name": "HLA-DQA1*", "type": "synonym" }, { "name": "HLA-DQA1", "type": "synonym" }, { "name": "HLA-DQA", "type": "synonym" } ], "record_id": "P01909-1", "evidence": [ { "id": "0060284", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060284" } ] }, { "uniprot_canonical_ac": "P01031-1", "uniprot_ac": "P01031", "uniprot_id": "CO5_HUMAN", "refseq_ac": "NP_001304092", "glycoprotein": "yes", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "Complement C5", "type": "recommended" }, { "name": "C3 and PZP-like alpha-2-macroglobulin domain-containing protein 4", "type": "synonym" }, { "name": "C5a anaphylatoxin", "type": "synonym" }, { "name": "Complement C5 alpha' chain", "type": "synonym" }, { "name": "anaphylatoxin C5a analog", "type": "synonym" }, { "name": "complement C5 isoform 2", "type": "synonym" }, { "name": "complement component 5", "type": "synonym" }, { "name": "prepro-C5", "type": "synonym" } ], "gene_names": [ { "name": "C5", "type": "recommended" }, { "name": "C5D", "type": "synonym" }, { "name": "C5a", "type": "synonym" }, { "name": "C5b", "type": "synonym" }, { "name": "C5", "type": "synonym" }, { "name": "CPAMD4", "type": "synonym" }, { "name": "ECLZB", "type": "synonym" } ], "record_id": "P01031-1", "evidence": [ { "id": "0060284", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060284" } ] } ], "glycans": [], "biomarkers": [], "association_flag": "1000", "record_id": "doid.0060284" }