{ "disease_id": "DOID:0050651", "recommended_name": { "id": "DOID:0050651", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050651", "name": "atrioventricular septal defect", "description": "A congenital heart septal defect characterized by an abnormal or inadequate fusion of the superior and inferior endocardial cushions with the mid portion of the atrial septum and the muscular portion of the ventricular septum, thus allowing extra blood to circulate the lungs." }, "synonyms": [ { "id": "DOID:0050651", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050651", "name": "AVCD", "description": "" }, { "id": "DOID:0050651", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050651", "name": "AVSD", "description": "" }, { "id": "DOID:0050651", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050651", "name": "ECD", "description": "" }, { "id": "DOID:0050651", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050651", "name": "atrioventricular canal defect", "description": "" }, { "id": "DOID:0050651", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050651", "name": "endocardial cushion defect", "description": "" }, { "id": "MONDO:0013747", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013747", "name": "atrioventricular septal defect 4", "description": "Any atrioventricular septal defect in which the cause of the disease is a mutation in the GATA4 gene." }, { "id": "MONDO:0013747", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013747", "name": "GATA4 atrioventricular septal defect", "description": "" }, { "id": "MONDO:0013747", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013747", "name": "atrioventricular septal defect 4", "description": "" }, { "id": "MONDO:0013747", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013747", "name": "atrioventricular septal defect caused by mutation in GATA4", "description": "" }, { "id": "MONDO:0013747", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013747", "name": "atrioventricular septal defect type 4", "description": "" }, { "id": "MONDO:0013747", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013747", "name": "AVSD4", "description": "" }, { "id": "MONDO:0013769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013769", "name": "atrioventricular septal defect 5", "description": "Any atrioventricular septal defect in which the cause of the disease is a mutation in the GATA6 gene." }, { "id": "MONDO:0013769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013769", "name": "GATA6 atrioventricular septal defect", "description": "" }, { "id": "MONDO:0013769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013769", "name": "atrioventricular septal defect 5", "description": "" }, { "id": "MONDO:0013769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013769", "name": "atrioventricular septal defect caused by mutation in GATA6", "description": "" }, { "id": "MONDO:0013769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013769", "name": "atrioventricular septal defect type 5", "description": "" }, { "id": "MONDO:0013769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013769", "name": "AVSD5", "description": "" }, { "id": "MONDO:0859565", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0859565", "name": "atrioventricular septal defect", "description": "" }, { "id": "MIM:614430", "resource": "MIM", "url": "https://www.omim.org/entry/614430", "name": "Atrioventricular septal defect 4", "description": "Atrioventricular septal defect 4" }, { "id": "MIM:614474", "resource": "MIM", "url": "https://www.omim.org/entry/614474", "name": "Atrioventricular septal defect 5", "description": "Atrioventricular septal defect 5" } ], "children": [], "id_list": [ "DOID:0050651" ], "unlinked_id_list": [], "crossref": [ { "id": "DOID:0050651", "database": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050651", "categories": [] }, { "id": "MONDO:0013747", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013747", "categories": [] }, { "id": "MONDO:0013769", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013769", "categories": [] }, { "id": "MONDO:0859565", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0859565", "categories": [] }, { "id": "MIM:614430", "database": "MIM", "url": "https://www.omim.org/entry/614430", "categories": [] }, { "id": "MIM:614474", "database": "MIM", "url": "https://www.omim.org/entry/614474", "categories": [] } ], "proteins": [ { "uniprot_canonical_ac": "Q5RKN4-1", "uniprot_ac": "Q5RKN4", "uniprot_id": "GLYR1_DANRE", "refseq_ac": "NP_001007772", "glycoprotein": "no", "species": [ { "name": "Danio rerio", "taxid": 7955, "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "protein_names": [ { "name": "Cytokine-like nuclear factor N-PAC", "type": "recommended" }, { "name": "Glyoxylate reductase 1 homolog", "type": "synonym" }, { "name": "NPAC", "type": "synonym" }, { "name": "Nuclear protein NP60", "type": "synonym" }, { "name": "Putative oxidoreductase GLYR1", "type": "synonym" }, { "name": "cytokine-like nuclear factor N-PAC", "type": "synonym" }, { "name": "nuclear protein NP60", "type": "synonym" }, { "name": "putative oxidoreductase GLYR1", "type": "synonym" } ], "gene_names": [ { "name": "glyr1", "type": "recommended" }, { "name": "NPAC", "type": "synonym" }, { "name": "fb96g02", "type": "synonym" }, { "name": "glyr1", "type": "synonym" }, { "name": "np60", "type": "synonym" }, { "name": "wu:fb96g02", "type": "synonym" }, { "name": "zgc:103629", "type": "synonym" } ], "record_id": "Q5RKN4-1", "evidence": [ { "id": "0050651", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050651" } ] }, { "uniprot_canonical_ac": "A3QK09-1", "uniprot_ac": "A3QK09", "uniprot_id": "A3QK09_DANRE", "refseq_ac": "NP_001070841", "glycoprotein": "yes", "species": [ { "name": "Danio rerio", "taxid": 7955, "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "protein_names": [ { "name": "Meckel syndrome, type 1", "type": "synonym" }, { "name": "Tectonic-like complex member MKS1", "type": "synonym" }, { "name": "tectonic-like complex member MKS1", "type": "synonym" } ], "gene_names": [ { "name": "mks1", "type": "recommended" }, { "name": "fc54h05", "type": "synonym" }, { "name": "mks1", "type": "synonym" }, { "name": "si:dkey-189h5.2", "type": "synonym" }, { "name": "wu:fc54h05", "type": "synonym" }, { "name": "zgc:153149", "type": "synonym" } ], "record_id": "A3QK09-1", "evidence": [ { "id": "0050651", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050651" } ] }, { "uniprot_canonical_ac": "Q5RHH4-1", "uniprot_ac": "Q5RHH4", "uniprot_id": "IF172_DANRE", "refseq_ac": "NP_001002312", "glycoprotein": "no", "species": [ { "name": "Danio rerio", "taxid": 7955, "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "protein_names": [ { "name": "Intraflagellar transport protein 172 homolog", "type": "recommended" }, { "name": "LIM-interacting protein", "type": "synonym" }, { "name": "intraflagellar transport protein 172 homolog", "type": "synonym" }, { "name": "moe", "type": "synonym" } ], "gene_names": [ { "name": "ift172", "type": "recommended" }, { "name": "ift172", "type": "synonym" }, { "name": "si:dkey-221h15.5", "type": "synonym" } ], "record_id": "Q5RHH4-1", "evidence": [ { "id": "0050651", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050651" } ] }, { "uniprot_canonical_ac": "F1QIC9-1", "uniprot_ac": "F1QIC9", "uniprot_id": "F1QIC9_DANRE", "refseq_ac": "NP_001124064", "glycoprotein": "no", "species": [ { "name": "Danio rerio", "taxid": 7955, "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "protein_names": [ { "name": "Nuclear receptor subfamily 1 group D member 2a", "type": "synonym" }, { "name": "Rev-Erb Beta 1", "type": "synonym" }, { "name": "nuclear receptor subfamily 1 group D member 2a", "type": "synonym" } ], "gene_names": [ { "name": "nr1d2a", "type": "recommended" }, { "name": "NR1D2-A", "type": "synonym" }, { "name": "Reverbbeta-A", "type": "synonym" }, { "name": "nr1d2a", "type": "synonym" }, { "name": "reverbb1", "type": "synonym" } ], "record_id": "F1QIC9-1", "evidence": [ { "id": "0050651", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050651" } ] }, { "uniprot_canonical_ac": "F1QL10-1", "uniprot_ac": "F1QL10", "uniprot_id": "F1QL10_DANRE", "refseq_ac": "NP_001001826", "glycoprotein": "no", "species": [ { "name": "Danio rerio", "taxid": 7955, "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "protein_names": [ { "name": "CCN family member 1", "type": "recommended" }, { "name": "CCN family member 1 precursor", "type": "synonym" }, { "name": "Cellular communication network factor 1", "type": "synonym" }, { "name": "Protein CYR61", "type": "synonym" }, { "name": "cysteine-rich, angiogenic inducer, 61", "type": "synonym" } ], "gene_names": [ { "name": "ccn1", "type": "recommended" }, { "name": "ccn1", "type": "synonym" }, { "name": "cyr61", "type": "synonym" }, { "name": "zCyr61-c23", "type": "synonym" }, { "name": "zgc:85866", "type": "synonym" } ], "record_id": "F1QL10-1", "evidence": [ { "id": "0050651", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050651" } ] }, { "uniprot_canonical_ac": "P21275-1", "uniprot_ac": "P21275", "uniprot_id": "BMP4_MOUSE", "refseq_ac": "NP_001303289", "glycoprotein": "yes", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Bone morphogenetic protein 4", "type": "recommended" }, { "name": "BMP-2B", "type": "synonym" }, { "name": "BMP-4", "type": "synonym" }, { "name": "Bone morphogenetic protein 2B", "type": "synonym" }, { "name": "bone morphogenetic protein 2B", "type": "synonym" }, { "name": "bone morphogenetic protein 4 preproprotein", "type": "synonym" } ], "gene_names": [ { "name": "Bmp4", "type": "recommended" }, { "name": "Bmp-4", "type": "synonym" }, { "name": "Bmp2b-1", "type": "synonym" }, { "name": "Bmp2b1", "type": "synonym" }, { "name": "Bmp2b", "type": "synonym" }, { "name": "Bmp4", "type": "synonym" }, { "name": "Dvr-4", "type": "synonym" } ], "record_id": "P21275-1", "evidence": [ { "id": "0050651", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050651" } ] }, { "uniprot_canonical_ac": "P18406-1", "uniprot_ac": "P18406", "uniprot_id": "CCN1_MOUSE", "refseq_ac": "NP_034646", "glycoprotein": "no", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "CCN family member 1", "type": "recommended" }, { "name": "3CH61", "type": "synonym" }, { "name": "CCN family member 1 precursor", "type": "synonym" }, { "name": "CCN family member 1", "type": "synonym" }, { "name": "Cellular communication network factor 1", "type": "synonym" }, { "name": "Cysteine-rich angiogenic inducer 61", "type": "synonym" }, { "name": "IBP-10", "type": "synonym" }, { "name": "IGF-binding protein 10", "type": "synonym" }, { "name": "IGFBP-10", "type": "synonym" }, { "name": "Insulin-like growth factor-binding protein 10", "type": "synonym" }, { "name": "Protein CYR61", "type": "synonym" }, { "name": "cysteine rich protein 61", "type": "synonym" }, { "name": "cysteine-rich angiogenic inducer 61", "type": "synonym" }, { "name": "insulin-like growth factor-binding protein 10", "type": "synonym" }, { "name": "intermediate early", "type": "synonym" }, { "name": "protein CYR61", "type": "synonym" } ], "gene_names": [ { "name": "Ccn1", "type": "recommended" }, { "name": "Ccn1", "type": "synonym" }, { "name": "Cyr61", "type": "synonym" }, { "name": "Igfbp10", "type": "synonym" } ], "record_id": "P18406-1", "evidence": [ { "id": "0050651", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050651" } ] }, { "uniprot_canonical_ac": "E9Q7N9-1", "uniprot_ac": "E9Q7N9", "uniprot_id": "E9Q7N9_MOUSE", "refseq_ac": "NP_034190", "glycoprotein": "yes", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Dynein axonemal heavy chain 11", "type": "recommended" }, { "name": "Axonemal beta dynein heavy chain 11", "type": "synonym" }, { "name": "Ciliary dynein heavy chain 11", "type": "synonym" }, { "name": "dynein axonemal heavy chain 11", "type": "synonym" }, { "name": "dynein, axon, heavy chain 11", "type": "synonym" }, { "name": "situs inversus viscerum", "type": "synonym" } ], "gene_names": [ { "name": "Dnah11", "type": "recommended" }, { "name": "Dnah11", "type": "synonym" }, { "name": "Dnahc11", "type": "synonym" }, { "name": "avc4", "type": "synonym" }, { "name": "b2b1203Clo", "type": "synonym" }, { "name": "b2b1279Clo", "type": "synonym" }, { "name": "b2b1289Clo", "type": "synonym" }, { "name": "b2b1727Clo", "type": "synonym" }, { "name": "b2b598Clo", "type": "synonym" }, { "name": "iv", "type": "synonym" }, { "name": "lrd", "type": "synonym" } ], "record_id": "E9Q7N9-1", "evidence": [ { "id": "0050651", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050651" } ] }, { "uniprot_canonical_ac": "Q60674-1", "uniprot_ac": "Q60674", "uniprot_id": "NR1D2_MOUSE", "refseq_ac": "NP_035714", "glycoprotein": "no", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Nuclear receptor subfamily 1 group D member 2", "type": "recommended" }, { "name": "Orphan nuclear receptor RVR", "type": "synonym" }, { "name": "Rev-erb beta", "type": "synonym" }, { "name": "Rev-erb-beta", "type": "synonym" }, { "name": "nuclear receptor subfamily 1 group D member 2 isoform 1", "type": "synonym" }, { "name": "orphan nuclear receptor RVR", "type": "synonym" }, { "name": "rev-erb-beta", "type": "synonym" } ], "gene_names": [ { "name": "Nr1d2", "type": "recommended" }, { "name": "Nr1d2", "type": "synonym" }, { "name": "RVR", "type": "synonym" }, { "name": "Rev-erb", "type": "synonym" } ], "record_id": "Q60674-1", "evidence": [ { "id": "0050651", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050651" } ] }, { "uniprot_canonical_ac": "Q5SW45-1", "uniprot_ac": "Q5SW45", "uniprot_id": "MKS1_MOUSE", "refseq_ac": "NP_001034773", "glycoprotein": "yes", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Tectonic-like complex member MKS1", "type": "recommended" }, { "name": "Meckel syndrome type 1 protein homolog", "type": "synonym" }, { "name": "Meckel syndrome, type 1", "type": "synonym" }, { "name": "meckel syndrome type 1 protein homolog", "type": "synonym" }, { "name": "tectonic-like complex member MKS1", "type": "synonym" } ], "gene_names": [ { "name": "Mks1", "type": "recommended" }, { "name": "B8d3", "type": "synonym" }, { "name": "Mks1", "type": "synonym" }, { "name": "avc6", "type": "synonym" } ], "record_id": "Q5SW45-1", "evidence": [ { "id": "0050651", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050651" } ] }, { "uniprot_canonical_ac": "Q6VH22-1", "uniprot_ac": "Q6VH22", "uniprot_id": "IF172_MOUSE", "refseq_ac": "NP_080574", "glycoprotein": "no", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Intraflagellar transport protein 172 homolog", "type": "recommended" }, { "name": "Protein wimple", "type": "synonym" }, { "name": "intraflagellar transport 172 homolog", "type": "synonym" }, { "name": "intraflagellar transport 172 protein", "type": "synonym" }, { "name": "intraflagellar transport protein 172 homolog", "type": "synonym" }, { "name": "protein wimple", "type": "synonym" }, { "name": "selective LIM-binding factor Wimple", "type": "synonym" } ], "gene_names": [ { "name": "Ift172", "type": "recommended" }, { "name": "4930553F24Rik", "type": "synonym" }, { "name": "Ift172", "type": "synonym" }, { "name": "Kiaa1179", "type": "synonym" }, { "name": "Slb", "type": "synonym" }, { "name": "Wim", "type": "synonym" }, { "name": "avc1", "type": "synonym" }, { "name": "wim", "type": "synonym" } ], "record_id": "Q6VH22-1", "evidence": [ { "id": "0050651", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050651" } ] }, { "uniprot_canonical_ac": "Q922P9-1", "uniprot_ac": "Q922P9", "uniprot_id": "GLYR1_MOUSE", "refseq_ac": "NP_082996", "glycoprotein": "yes", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Cytokine-like nuclear factor N-PAC", "type": "recommended" }, { "name": "Glyoxylate reductase 1 homolog", "type": "synonym" }, { "name": "NPAC", "type": "synonym" }, { "name": "Nuclear protein NP60", "type": "synonym" }, { "name": "Putative oxidoreductase GLYR1", "type": "synonym" }, { "name": "cytokine-like nuclear factor N-PAC isoform 2", "type": "synonym" }, { "name": "cytokine-like nuclear factor n-pac", "type": "synonym" }, { "name": "nuclear protein NP60", "type": "synonym" }, { "name": "putative oxidoreductase GLYR1", "type": "synonym" } ], "gene_names": [ { "name": "Glyr1", "type": "recommended" }, { "name": "2810419J22Rik", "type": "synonym" }, { "name": "3930401K13Rik", "type": "synonym" }, { "name": "Glyr1", "type": "synonym" }, { "name": "NDF", "type": "synonym" }, { "name": "Np60", "type": "synonym" }, { "name": "Npac", "type": "synonym" } ], "record_id": "Q922P9-1", "evidence": [ { "id": "0050651", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050651" } ] }, { "uniprot_canonical_ac": "Q91XD7-1", "uniprot_ac": "Q91XD7", "uniprot_id": "CREL1_MOUSE", "refseq_ac": "NP_598691", "glycoprotein": "yes", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Protein disulfide isomerase Creld1", "type": "recommended" }, { "name": "5.3.4.1", "type": "synonym" }, { "name": "Cysteine-rich with EGF-like domain protein 1", "type": "synonym" }, { "name": "cysteine-rich with EGF-like domain protein 1", "type": "synonym" }, { "name": "protein disulfide isomerase Creld1 precursor", "type": "synonym" }, { "name": "protein disulfide isomerase Creld1", "type": "synonym" } ], "gene_names": [ { "name": "Creld1", "type": "recommended" }, { "name": "Creld1", "type": "synonym" }, { "name": "i11E7", "type": "synonym" } ], "record_id": "Q91XD7-1", "evidence": [ { "id": "0050651", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050651" } ] }, { "uniprot_canonical_ac": "Q61169-1", "uniprot_ac": "Q61169", "uniprot_id": "GATA6_MOUSE", "refseq_ac": "NP_034388", "glycoprotein": "yes", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Transcription factor GATA-6", "type": "recommended" }, { "name": "GATA-binding factor 6", "type": "synonym" }, { "name": "transcription factor GATA-6", "type": "synonym" } ], "gene_names": [ { "name": "Gata6", "type": "recommended" }, { "name": "GATA-6", "type": "synonym" }, { "name": "Gata6", "type": "synonym" } ], "record_id": "Q61169-1", "evidence": [ { "id": "0050651", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050651" } ] }, { "uniprot_canonical_ac": "Q08369-1", "uniprot_ac": "Q08369", "uniprot_id": "GATA4_MOUSE", "refseq_ac": "NP_032118", "glycoprotein": "yes", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Transcription factor GATA-4", "type": "recommended" }, { "name": "GATA-binding factor 4", "type": "synonym" }, { "name": "transcription factor GATA-4 isoform 2", "type": "synonym" }, { "name": "transcription factor GATA-4", "type": "synonym" } ], "gene_names": [ { "name": "Gata4", "type": "recommended" }, { "name": "Gata-4", "type": "synonym" }, { "name": "Gata4", "type": "synonym" } ], "record_id": "Q08369-1", "evidence": [ { "id": "0050651", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050651" } ] }, { "uniprot_canonical_ac": "P43694-1", "uniprot_ac": "P43694", "uniprot_id": "GATA4_HUMAN", "refseq_ac": "NP_001295022", "glycoprotein": "yes", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "Transcription factor GATA-4", "type": "recommended" }, { "name": "GATA-binding factor 4", "type": "synonym" }, { "name": "transcription factor GATA-4 isoform 1", "type": "synonym" }, { "name": "transcription factor GATA-4", "type": "synonym" } ], "gene_names": [ { "name": "GATA4", "type": "recommended" }, { "name": "ASD2", "type": "synonym" }, { "name": "GATA4", "type": "synonym" }, { "name": "TACHD", "type": "synonym" }, { "name": "TOF", "type": "synonym" }, { "name": "VSD1", "type": "synonym" } ], "record_id": "P43694-1", "evidence": [ { "id": "614430", "database": "MIM", "url": "https://www.omim.org/entry/614430" }, { "id": "0050651", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050651" } ] }, { "uniprot_canonical_ac": "Q92908-1", "uniprot_ac": "Q92908", "uniprot_id": "GATA6_HUMAN", "refseq_ac": "NP_005248", "glycoprotein": "yes", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "Transcription factor GATA-6", "type": "recommended" }, { "name": "GATA-binding factor 6", "type": "synonym" }, { "name": "transcription factor GATA-6", "type": "synonym" } ], "gene_names": [ { "name": "GATA6", "type": "recommended" }, { "name": "GATA6", "type": "synonym" } ], "record_id": "Q92908-1", "evidence": [ { "id": "614474", "database": "MIM", "url": "https://www.omim.org/entry/614474" }, { "id": "0050651", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050651" } ] }, { "uniprot_canonical_ac": "P42944-1", "uniprot_ac": "P42944", "uniprot_id": "GZF3_YEAST", "refseq_ac": "NP_012425", "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": "Protein GZF3", "type": "recommended" }, { "name": "Gzf3p", "type": "synonym" } ], "gene_names": [ { "name": "GZF3", "type": "recommended" }, { "name": "DEH1", "type": "synonym" }, { "name": "GZF3", "type": "synonym" }, { "name": "J0806", "type": "synonym" }, { "name": "NIL2", "type": "synonym" } ], "record_id": "P42944-1", "evidence": [ { "id": "0050651", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050651" } ] }, { "uniprot_canonical_ac": "P43574-1", "uniprot_ac": "P43574", "uniprot_id": "GAT1_YEAST", "refseq_ac": "NP_116632", "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": "Transcriptional regulatory protein GAT1", "type": "recommended" }, { "name": "Gat1p", "type": "synonym" } ], "gene_names": [ { "name": "GAT1", "type": "recommended" }, { "name": "GAT1", "type": "synonym" }, { "name": "MEP80", "type": "synonym" }, { "name": "NIL1", "type": "synonym" } ], "record_id": "P43574-1", "evidence": [ { "id": "0050651", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050651" } ] }, { "uniprot_canonical_ac": "Q4V7F2-1", "uniprot_ac": "Q4V7F2", "uniprot_id": "CREL1_RAT", "refseq_ac": "NP_001019954", "glycoprotein": "yes", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "Protein disulfide isomerase Creld1", "type": "recommended" }, { "name": "5.3.4.1", "type": "synonym" }, { "name": "Cysteine-rich with EGF-like domain protein 1", "type": "synonym" }, { "name": "cysteine-rich with EGF-like domain protein 1", "type": "synonym" }, { "name": "cysteine-rich with EGF-like domains 1", "type": "synonym" }, { "name": "protein disulfide isomerase Creld1 precursor", "type": "synonym" }, { "name": "protein disulfide isomerase Creld1", "type": "synonym" } ], "gene_names": [ { "name": "Creld1", "type": "recommended" }, { "name": "Creld1", "type": "synonym" } ], "record_id": "Q4V7F2-1", "evidence": [ { "id": "0050651", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050651" } ] }, { "uniprot_canonical_ac": "P46153-1", "uniprot_ac": "P46153", "uniprot_id": "GATA6_RAT", "refseq_ac": "NP_062058", "glycoprotein": "no", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "Transcription factor GATA-6", "type": "recommended" }, { "name": "DNA-binding protein GATA-GT2", "type": "synonym" }, { "name": "GATA-binding factor 6", "type": "synonym" }, { "name": "transcription factor GATA-6", "type": "synonym" } ], "gene_names": [ { "name": "Gata6", "type": "recommended" }, { "name": "Gata6", "type": "synonym" } ], "record_id": "P46153-1", "evidence": [ { "id": "0050651", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050651" } ] }, { "uniprot_canonical_ac": "P46152-1", "uniprot_ac": "P46152", "uniprot_id": "GATA4_RAT", "refseq_ac": "NP_653331", "glycoprotein": "no", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "Transcription factor GATA-4", "type": "recommended" }, { "name": "DNA-binding protein GATA-GT2", "type": "synonym" }, { "name": "GATA-binding factor 4", "type": "synonym" }, { "name": "transcription factor GATA-4", "type": "synonym" } ], "gene_names": [ { "name": "Gata4", "type": "recommended" }, { "name": "Gata4", "type": "synonym" } ], "record_id": "P46152-1", "evidence": [ { "id": "0050651", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050651" } ] }, { "uniprot_canonical_ac": "Q9JKU3-1", "uniprot_ac": "Q9JKU3", "uniprot_id": "IF172_RAT", "refseq_ac": "", "glycoprotein": "no", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "Intraflagellar transport protein 172 homolog", "type": "recommended" }, { "name": "Selective LIM-binding factor", "type": "synonym" } ], "gene_names": [ { "name": "Ift172", "type": "recommended" }, { "name": "AABR07063281.1", "type": "synonym" }, { "name": "Slb", "type": "synonym" } ], "record_id": "Q9JKU3-1", "evidence": [ { "id": "0050651", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050651" } ] }, { "uniprot_canonical_ac": "Q499Q5-1", "uniprot_ac": "Q499Q5", "uniprot_id": "MKS1_RAT", "refseq_ac": "NP_001030089", "glycoprotein": "yes", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "Tectonic-like complex member MKS1", "type": "recommended" }, { "name": "Meckel syndrome type 1 protein homolog", "type": "synonym" }, { "name": "Meckel syndrome, type 1", "type": "synonym" }, { "name": "meckel syndrome type 1 protein homolog", "type": "synonym" }, { "name": "tectonic-like complex member MKS1", "type": "synonym" } ], "gene_names": [ { "name": "Mks1", "type": "recommended" }, { "name": "Mks1", "type": "synonym" } ], "record_id": "Q499Q5-1", "evidence": [ { "id": "0050651", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050651" } ] }, { "uniprot_canonical_ac": "Q5RKH0-1", "uniprot_ac": "Q5RKH0", "uniprot_id": "GLYR1_RAT", "refseq_ac": "NP_001007801", "glycoprotein": "no", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "Cytokine-like nuclear factor N-PAC", "type": "recommended" }, { "name": "Glyoxylate reductase 1 homolog", "type": "synonym" }, { "name": "NPAC", "type": "synonym" }, { "name": "Nuclear protein NP60", "type": "synonym" }, { "name": "Putative oxidoreductase GLYR1", "type": "synonym" }, { "name": "cytokine-like nuclear factor N-PAC", "type": "synonym" }, { "name": "nuclear protein NP60", "type": "synonym" }, { "name": "putative oxidoreductase GLYR1", "type": "synonym" } ], "gene_names": [ { "name": "Glyr1", "type": "recommended" }, { "name": "3930401k13rik", "type": "synonym" }, { "name": "Glyr1", "type": "synonym" }, { "name": "N-pac", "type": "synonym" }, { "name": "NPAC", "type": "synonym" }, { "name": "Np60", "type": "synonym" }, { "name": "RGD1309459", "type": "synonym" } ], "record_id": "Q5RKH0-1", "evidence": [ { "id": "0050651", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050651" } ] }, { "uniprot_canonical_ac": "P62912-1", "uniprot_ac": "P62912", "uniprot_id": "RL32_RAT", "refseq_ac": "NP_037358", "glycoprotein": "yes", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "Large ribosomal subunit protein eL32", "type": "recommended" }, { "name": "60S ribosomal protein L32", "type": "synonym" }, { "name": "large ribosomal subunit protein eL32", "type": "synonym" } ], "gene_names": [ { "name": "Dnah11", "type": "recommended" }, { "name": "Rpl32", "type": "recommended" }, { "name": "Rpl32", "type": "synonym" } ], "record_id": "P62912-1", "evidence": [ { "id": "0050651", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050651" } ] }, { "uniprot_canonical_ac": "Q06826-1", "uniprot_ac": "Q06826", "uniprot_id": "BMP4_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": "Bone morphogenetic protein 4", "type": "recommended" }, { "name": "BMP-2B", "type": "synonym" }, { "name": "BMP-4", "type": "synonym" }, { "name": "Bone morphogenetic protein 2B", "type": "synonym" } ], "gene_names": [ { "name": "Bmp4", "type": "recommended" }, { "name": "Bmp-4", "type": "synonym" }, { "name": "Dvr-4", "type": "synonym" } ], "record_id": "Q06826-1", "evidence": [ { "id": "0050651", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050651" } ] }, { "uniprot_canonical_ac": "Q9ES72-1", "uniprot_ac": "Q9ES72", "uniprot_id": "CCN1_RAT", "refseq_ac": "", "glycoprotein": "no", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "CCN family member 1", "type": "recommended" }, { "name": "Cellular communication network factor 1", "type": "synonym" }, { "name": "Cysteine-rich angiogenic inducer 61", "type": "synonym" }, { "name": "IBP-10", "type": "synonym" }, { "name": "IGF-binding protein 10", "type": "synonym" }, { "name": "IGFBP-10", "type": "synonym" }, { "name": "Insulin-like growth factor-binding protein 10", "type": "synonym" }, { "name": "Protein CYR61", "type": "synonym" } ], "gene_names": [ { "name": "Ccn1", "type": "recommended" }, { "name": "Cyr61", "type": "synonym" }, { "name": "Igfbp10", "type": "synonym" } ], "record_id": "Q9ES72-1", "evidence": [ { "id": "0050651", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050651" } ] }, { "uniprot_canonical_ac": "Q63504-1", "uniprot_ac": "Q63504", "uniprot_id": "NR1D2_RAT", "refseq_ac": "NP_671743", "glycoprotein": "no", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "Nuclear receptor subfamily 1 group D member 2", "type": "recommended" }, { "name": "EAR4", "type": "synonym" }, { "name": "Rev-ErbA-beta", "type": "synonym" }, { "name": "Rev-erb-Beta2", "type": "synonym" }, { "name": "Rev-erb-beta", "type": "synonym" }, { "name": "nuclear receptor subfamily 1 group D member 2", "type": "synonym" }, { "name": "orphan nuclear receptor HZF-2", "type": "synonym" }, { "name": "orphan receptor", "type": "synonym" }, { "name": "rev-erb-beta", "type": "synonym" } ], "gene_names": [ { "name": "Nr1d2", "type": "recommended" }, { "name": "HZF-2", "type": "synonym" }, { "name": "Nr1d2", "type": "synonym" } ], "record_id": "Q63504-1", "evidence": [ { "id": "0050651", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050651" } ] }, { "uniprot_canonical_ac": "O88823-1", "uniprot_ac": "O88823", "uniprot_id": "JTB_RAT", "refseq_ac": "NP_062086", "glycoprotein": "no", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "Protein JTB", "type": "recommended" }, { "name": "protein JTB precursor", "type": "synonym" }, { "name": "protein JTB-like", "type": "synonym" }, { "name": "protein JTB", "type": "synonym" } ], "gene_names": [ { "name": "Jtb", "type": "recommended" }, { "name": "Jtb", "type": "synonym" } ], "record_id": "O88823-1", "evidence": [ { "id": "0050651", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050651" } ] }, { "uniprot_canonical_ac": "P48317-1", "uniprot_ac": "P48317", "uniprot_id": "GA45A_RAT", "refseq_ac": "", "glycoprotein": "no", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "Growth arrest and DNA damage-inducible protein GADD45 alpha", "type": "recommended" }, { "name": "DDIT-1", "type": "synonym" }, { "name": "DNA damage-inducible transcript 1 protein", "type": "synonym" } ], "gene_names": [ { "name": "Gadd45a", "type": "recommended" }, { "name": "Ddit1", "type": "synonym" }, { "name": "Gadd45", "type": "synonym" } ], "record_id": "P48317-1", "evidence": [ { "id": "0050651", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050651" } ] }, { "uniprot_canonical_ac": "Q9VPJ0-1", "uniprot_ac": "Q9VPJ0", "uniprot_id": "Q9VPJ0_DROME", "refseq_ac": "NP_608490", "glycoprotein": "no", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "CG11377-PA", "type": "synonym" }, { "name": "Creld-PA", "type": "synonym" }, { "name": "Cysteine rich with EGF like domains, isoform A", "type": "synonym" }, { "name": "cysteine rich with EGF like domains, isoform A", "type": "synonym" } ], "gene_names": [ { "name": "Creld", "type": "recommended" }, { "name": "CG11377", "type": "synonym" }, { "name": "CT31762", "type": "synonym" }, { "name": "Creld", "type": "synonym" }, { "name": "Dmel\\CG11377", "type": "synonym" }, { "name": "Dmel_CG11377", "type": "synonym" } ], "record_id": "Q9VPJ0-1", "evidence": [ { "id": "0050651", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050651" } ] }, { "uniprot_canonical_ac": "P52168-1", "uniprot_ac": "P52168", "uniprot_id": "PNR_DROME", "refseq_ac": "NP_476685", "glycoprotein": "no", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "GATA-binding factor A", "type": "recommended" }, { "name": "CG3978-PA", "type": "synonym" }, { "name": "Protein pannier", "type": "synonym" }, { "name": "Transcription factor GATA-A", "type": "synonym" }, { "name": "dGATA-A", "type": "synonym" }, { "name": "pannier, isoform A", "type": "synonym" }, { "name": "pannier", "type": "synonym" }, { "name": "pnr-PA", "type": "synonym" } ], "gene_names": [ { "name": "pnr", "type": "recommended" }, { "name": "CG3978-PA", "type": "synonym" }, { "name": "CG3978", "type": "synonym" }, { "name": "Dmel\\CG3978", "type": "synonym" }, { "name": "Dmel_CG3978", "type": "synonym" }, { "name": "GATA-A", "type": "synonym" }, { "name": "GATA4", "type": "synonym" }, { "name": "GATAa/Pannier", "type": "synonym" }, { "name": "GATAa", "type": "synonym" }, { "name": "GATA", "type": "synonym" }, { "name": "PNR", "type": "synonym" }, { "name": "Pannier", "type": "synonym" }, { "name": "Pnr", "type": "synonym" }, { "name": "dGATAa/pannier", "type": "synonym" }, { "name": "dGATAa", "type": "synonym" }, { "name": "l(3)89B3", "type": "synonym" }, { "name": "pannier", "type": "synonym" }, { "name": "pnr", "type": "synonym" }, { "name": "prn", "type": "synonym" } ], "record_id": "P52168-1", "evidence": [ { "id": "0050651", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050651" } ] }, { "uniprot_canonical_ac": "Q8T079-1", "uniprot_ac": "Q8T079", "uniprot_id": "GLYR1_DROME", "refseq_ac": "NP_001285791", "glycoprotein": "no", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "Cytokine-like nuclear factor N-PAC", "type": "recommended" }, { "name": "CG4747-PC", "type": "synonym" }, { "name": "Glyoxylate reductase 1 homolog", "type": "synonym" }, { "name": "NPAC", "type": "synonym" }, { "name": "Ndf-PC", "type": "synonym" }, { "name": "Nuclear protein NP60 homolog", "type": "synonym" }, { "name": "Nucleosome-destabilizing factor, isoform C", "type": "synonym" }, { "name": "Nucleosome-destabilizing factor", "type": "synonym" }, { "name": "Putative oxidoreductase GLYR1 homolog", "type": "synonym" }, { "name": "nucleosome-destabilizing factor", "type": "synonym" } ], "gene_names": [ { "name": "Ndf", "type": "recommended" }, { "name": "BEST:GH19401", "type": "synonym" }, { "name": "BEST:LD22483", "type": "synonym" }, { "name": "BEST:LD29743", "type": "synonym" }, { "name": "CG4747", "type": "synonym" }, { "name": "Dm_AI388468", "type": "synonym" }, { "name": "Dmel\\CG4747", "type": "synonym" }, { "name": "Dmel_CG4747", "type": "synonym" }, { "name": "LD29743", "type": "synonym" }, { "name": "NDF", "type": "synonym" }, { "name": "Ndf", "type": "synonym" }, { "name": "dNDF", "type": "synonym" } ], "record_id": "Q8T079-1", "evidence": [ { "id": "0050651", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050651" } ] }, { "uniprot_canonical_ac": "Q9W040-1", "uniprot_ac": "Q9W040", "uniprot_id": "OSM1_DROME", "refseq_ac": "NP_647700", "glycoprotein": "no", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "Intraflagellar transport protein 172 homolog", "type": "recommended" }, { "name": "CG13809-PB", "type": "synonym" }, { "name": "Oseg2-PB", "type": "synonym" }, { "name": "Osmotic avoidance abnormal protein 1 homolog", "type": "synonym" }, { "name": "Outer segment 2", "type": "synonym" }, { "name": "osm-1", "type": "synonym" }, { "name": "outer segment 2", "type": "synonym" }, { "name": "selective LIM binding factor", "type": "synonym" } ], "gene_names": [ { "name": "Oseg2", "type": "recommended" }, { "name": "CG13809", "type": "synonym" }, { "name": "Dmel\\CG13809", "type": "synonym" }, { "name": "IFT172", "type": "synonym" }, { "name": "OSEG2", "type": "synonym" }, { "name": "OSEG", "type": "synonym" }, { "name": "OSM-1", "type": "synonym" }, { "name": "Oseg2", "type": "synonym" }, { "name": "oseg2", "type": "synonym" }, { "name": "osm-1", "type": "synonym" } ], "record_id": "Q9W040-1", "evidence": [ { "id": "0050651", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050651" } ] }, { "uniprot_canonical_ac": "Q9VYM3-1", "uniprot_ac": "Q9VYM3", "uniprot_id": "MKS1_DROME", "refseq_ac": "NP_572804", "glycoprotein": "no", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "Tectonic-like complex member Mks1", "type": "recommended" }, { "name": "CG15730-PA", "type": "synonym" }, { "name": "Meckel syndrome type 1 protein homolog", "type": "synonym" }, { "name": "Mks1-PA", "type": "synonym" }, { "name": "meckel syndrome, type 1 homologue", "type": "synonym" }, { "name": "meckel syndrome, type 1", "type": "synonym" } ], "gene_names": [ { "name": "Mks1", "type": "recommended" }, { "name": "B9d3", "type": "synonym" }, { "name": "CG15730", "type": "synonym" }, { "name": "Dmel\\CG15730", "type": "synonym" }, { "name": "MKS1", "type": "synonym" }, { "name": "Mks1", "type": "synonym" }, { "name": "dMks1", "type": "synonym" }, { "name": "mks1", "type": "synonym" } ], "record_id": "Q9VYM3-1", "evidence": [ { "id": "0050651", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050651" } ] }, { "uniprot_canonical_ac": "P13055-2", "uniprot_ac": "P13055", "uniprot_id": "E75BB_DROME", "refseq_ac": "NP_001246821", "glycoprotein": "yes", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "Ecdysone-induced protein 75B, isoform B", "type": "recommended" }, { "name": "CG8127-PE", "type": "synonym" }, { "name": "E75 nuclear receptor", "type": "synonym" }, { "name": "E75-C", "type": "synonym" }, { "name": "Ecdysone-induced protein 75B, isoform E", "type": "synonym" }, { "name": "Eip75B-PE", "type": "synonym" }, { "name": "Nuclear receptor subfamily 1 group D member 3, isoform B", "type": "synonym" }, { "name": "ecdysone induced protein 75", "type": "synonym" }, { "name": "ecdysone inducible protein 75B", "type": "synonym" }, { "name": "ecdysone-induced protein 75", "type": "synonym" } ], "gene_names": [ { "name": "Eip75B", "type": "recommended" }, { "name": "57B", "type": "synonym" }, { "name": "75B", "type": "synonym" }, { "name": "BcDNA:GM02640", "type": "synonym" }, { "name": "CG8127", "type": "synonym" }, { "name": "DmE75A", "type": "synonym" }, { "name": "DmE75B", "type": "synonym" }, { "name": "DmE75", "type": "synonym" }, { "name": "Dmel\\CG8127", "type": "synonym" }, { "name": "E75-C", "type": "synonym" }, { "name": "E75A", "type": "synonym" }, { "name": "E75B", "type": "synonym" }, { "name": "E75C", "type": "synonym" }, { "name": "E75", "type": "synonym" }, { "name": "EP1121b", "type": "synonym" }, { "name": "EiP75", "type": "synonym" }, { "name": "Eip75 A", "type": "synonym" }, { "name": "Eip75A", "type": "synonym" }, { "name": "Eip75B", "type": "synonym" }, { "name": "Eip75", "type": "synonym" }, { "name": "Mgn00274", "type": "synonym" }, { "name": "NR1D3", "type": "synonym" }, { "name": "REV-ERB&agr", "type": "synonym" }, { "name": "Rev-Erb", "type": "synonym" }, { "name": "anon-WO0172774.31", "type": "synonym" }, { "name": "anon-WO0172774.32", "type": "synonym" }, { "name": "dE75", "type": "synonym" }, { "name": "eip75B", "type": "synonym" }, { "name": "eip75a", "type": "synonym" }, { "name": "l(3)07041", "type": "synonym" }, { "name": "l(3)j11A6", "type": "synonym" }, { "name": "l(3)j12E8", "type": "synonym" }, { "name": "l(3)j3A6", "type": "synonym" }, { "name": "l(3)j5E1", "type": "synonym" }, { "name": "l(3)neo25", "type": "synonym" } ], "record_id": "P13055-2", "evidence": [ { "id": "0050651", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050651" } ] }, { "uniprot_canonical_ac": "P07713-1", "uniprot_ac": "P07713", "uniprot_id": "DECA_DROME", "refseq_ac": "NP_477311", "glycoprotein": "yes", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "Protein decapentaplegic", "type": "recommended" }, { "name": "CG9885-PA", "type": "synonym" }, { "name": "Decapentaplegic/Bone morphogenetic protein", "type": "synonym" }, { "name": "Haplo-insufficient", "type": "synonym" }, { "name": "Protein DPP-C", "type": "synonym" }, { "name": "blink", "type": "synonym" }, { "name": "bone morphogenetic protein", "type": "synonym" }, { "name": "bone morphogenic protein", "type": "synonym" }, { "name": "decapentaplegic, isoform A", "type": "synonym" }, { "name": "decapentaplegic", "type": "synonym" }, { "name": "dpp-PA", "type": "synonym" }, { "name": "heldout", "type": "synonym" }, { "name": "shortvein", "type": "synonym" }, { "name": "tegula", "type": "synonym" } ], "gene_names": [ { "name": "dpp", "type": "recommended" }, { "name": "BMP", "type": "synonym" }, { "name": "Bmp", "type": "synonym" }, { "name": "CG9885", "type": "synonym" }, { "name": "DPP-C", "type": "synonym" }, { "name": "DPP", "type": "synonym" }, { "name": "Dm-DPP", "type": "synonym" }, { "name": "DmDPP", "type": "synonym" }, { "name": "Dmel\\CG9885", "type": "synonym" }, { "name": "Dpp/TGFbeta", "type": "synonym" }, { "name": "Dpp", "type": "synonym" }, { "name": "Hin-d", "type": "synonym" }, { "name": "M(2)23AB", "type": "synonym" }, { "name": "M(2)LS1", "type": "synonym" }, { "name": "TGF-beta", "type": "synonym" }, { "name": "TGF-b", "type": "synonym" }, { "name": "TGFbeta", "type": "synonym" }, { "name": "Tgfbeta", "type": "synonym" }, { "name": "Tg", "type": "synonym" }, { "name": "blk", "type": "synonym" }, { "name": "dpp", "type": "synonym" }, { "name": "ho", "type": "synonym" }, { "name": "l(2)10638", "type": "synonym" }, { "name": "l(2)22Fa", "type": "synonym" }, { "name": "l(2)k17036", "type": "synonym" }, { "name": "shv", "type": "synonym" } ], "record_id": "P07713-1", "evidence": [ { "id": "0050651", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050651" } ] }, { "uniprot_canonical_ac": "A0A0B4KHJ4-1", "uniprot_ac": "A0A0B4KHJ4", "uniprot_id": "A0A0B4KHJ4_DROME", "refseq_ac": "NP_001262793", "glycoprotein": "yes", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "CG3723-PC", "type": "synonym" }, { "name": "Dhc93AB-PC", "type": "synonym" }, { "name": "Dynein heavy chain at 93AB, isoform C", "type": "synonym" }, { "name": "dynein heavy chain at 93AB, isoform C", "type": "synonym" }, { "name": "dynein-related heavy chain polypeptide", "type": "synonym" } ], "gene_names": [ { "name": "Dhc93AB", "type": "recommended" }, { "name": "CG3723", "type": "synonym" }, { "name": "DHC4C", "type": "synonym" }, { "name": "DHC", "type": "synonym" }, { "name": "Dhc 93AB", "type": "synonym" }, { "name": "Dhc93AB", "type": "synonym" }, { "name": "Dhc", "type": "synonym" }, { "name": "Dmel\\CG3723", "type": "synonym" }, { "name": "Dmel_CG3723", "type": "synonym" }, { "name": "dhc93AB", "type": "synonym" }, { "name": "dhc", "type": "synonym" } ], "record_id": "A0A0B4KHJ4-1", "evidence": [ { "id": "0050651", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050651" } ] }, { "uniprot_canonical_ac": "P45447-1", "uniprot_ac": "P45447", "uniprot_id": "E78C_DROME", "refseq_ac": "NP_001246862", "glycoprotein": "yes", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "Ecdysone-induced protein 78C", "type": "recommended" }, { "name": "CG18023-PD", "type": "synonym" }, { "name": "DR-78", "type": "synonym" }, { "name": "Ecdysone-induced protein 78C, isoform D", "type": "synonym" }, { "name": "Eip78C-PD", "type": "synonym" }, { "name": "Nuclear receptor subfamily 1 group E member 1", "type": "synonym" }, { "name": "ecdysone induced protein 78C", "type": "synonym" }, { "name": "nuclear hormone receptor", "type": "synonym" } ], "gene_names": [ { "name": "Eip78C", "type": "recommended" }, { "name": "CG18023", "type": "synonym" }, { "name": "DR-78", "type": "synonym" }, { "name": "Dmel\\CG18023", "type": "synonym" }, { "name": "Dmel_CG18023", "type": "synonym" }, { "name": "E78A", "type": "synonym" }, { "name": "E78B", "type": "synonym" }, { "name": "E78D", "type": "synonym" }, { "name": "E78", "type": "synonym" }, { "name": "EIP78C", "type": "synonym" }, { "name": "Eip 78C", "type": "synonym" }, { "name": "Eip78C", "type": "synonym" }, { "name": "Eip78D", "type": "synonym" }, { "name": "Eip78c", "type": "synonym" }, { "name": "Eip78", "type": "synonym" }, { "name": "NR1E1", "type": "synonym" }, { "name": "anon-WO0172774.42", "type": "synonym" }, { "name": "anon-WO0172774.44", "type": "synonym" }, { "name": "dE78", "type": "synonym" }, { "name": "eip78c", "type": "synonym" } ], "record_id": "P45447-1", "evidence": [ { "id": "0050651", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050651" } ] }, { "uniprot_canonical_ac": "Q9VVK3-1", "uniprot_ac": "Q9VVK3", "uniprot_id": "Q9VVK3_DROME", "refseq_ac": "NP_730294", "glycoprotein": "no", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "CG32183-PB", "type": "synonym" }, { "name": "Ccn-PB", "type": "synonym" }, { "name": "Ccn", "type": "synonym" } ], "gene_names": [ { "name": "Ccn", "type": "recommended" }, { "name": "CG13735", "type": "synonym" }, { "name": "CG13736", "type": "synonym" }, { "name": "CG32183", "type": "synonym" }, { "name": "Ccn", "type": "synonym" }, { "name": "Dmel\\CG32183", "type": "synonym" }, { "name": "Dmel_CG32183", "type": "synonym" }, { "name": "dCCN", "type": "synonym" } ], "record_id": "Q9VVK3-1", "evidence": [ { "id": "0050651", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050651" } ] }, { "uniprot_canonical_ac": "Q14118-1", "uniprot_ac": "Q14118", "uniprot_id": "DAG1_HUMAN", "refseq_ac": "NP_001159400", "glycoprotein": "yes", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "Dystroglycan 1", "type": "recommended" }, { "name": "Dystroglycan", "type": "synonym" }, { "name": "Dystrophin-associated glycoprotein 1", "type": "synonym" }, { "name": "dystroglycan 1 (dystrophin-associated glycoprotein 1)", "type": "synonym" }, { "name": "dystroglycan 1 preproprotein", "type": "synonym" } ], "gene_names": [ { "name": "DAG1", "type": "recommended" }, { "name": "156DAG", "type": "synonym" }, { "name": "A3a", "type": "synonym" }, { "name": "AGRNR", "type": "synonym" }, { "name": "DAG1", "type": "synonym" }, { "name": "DAG", "type": "synonym" }, { "name": "LGMDR16", "type": "synonym" }, { "name": "MDDGA9", "type": "synonym" }, { "name": "MDDGC7", "type": "synonym" }, { "name": "MDDGC9", "type": "synonym" } ], "record_id": "Q14118-1", "evidence": [ { "id": "0050651", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050651" } ] }, { "uniprot_canonical_ac": "P08174-1", "uniprot_ac": "P08174", "uniprot_id": "DAF_HUMAN", "refseq_ac": "NP_000565", "glycoprotein": "yes", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "Complement decay-accelerating factor", "type": "recommended" }, { "name": "CD55 antigen", "type": "synonym" }, { "name": "CD55 molecule, decay accelerating factor for complement (Cromer blood group)", "type": "synonym" }, { "name": "Cromer blood group antigen", "type": "synonym" }, { "name": "Rh blood group D antigen", "type": "synonym" }, { "name": "complement decay-accelerating factor isoform 1 preproprotein", "type": "synonym" }, { "name": "complement decay-accelerating factor", "type": "synonym" } ], "gene_names": [ { "name": "CD55", "type": "recommended" }, { "name": "CD55", "type": "synonym" }, { "name": "CHAPLE", "type": "synonym" }, { "name": "CROM", "type": "synonym" }, { "name": "CR", "type": "synonym" }, { "name": "DAF", "type": "synonym" }, { "name": "TC", "type": "synonym" } ], "record_id": "P08174-1", "evidence": [ { "id": "0050651", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050651" } ] }, { "uniprot_canonical_ac": "P12111-1", "uniprot_ac": "P12111", "uniprot_id": "CO6A3_HUMAN", "refseq_ac": "NP_004360", "glycoprotein": "yes", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "Collagen alpha-3(VI) chain", "type": "recommended" }, { "name": "collagen VI, alpha-3 polypeptide", "type": "synonym" }, { "name": "collagen alpha-3(VI) chain isoform 1 precursor", "type": "synonym" }, { "name": "collagen alpha-3(VI) chain", "type": "synonym" }, { "name": "collagen, type VI, alpha 3", "type": "synonym" }, { "name": "epididymis secretory sperm binding protein", "type": "synonym" } ], "gene_names": [ { "name": "COL6A3", "type": "recommended" }, { "name": "BTHLM1C", "type": "synonym" }, { "name": "BTHLM1", "type": "synonym" }, { "name": "COL6A3", "type": "synonym" }, { "name": "DYT27", "type": "synonym" }, { "name": "UCMD1C", "type": "synonym" }, { "name": "UCMD1", "type": "synonym" } ], "record_id": "P12111-1", "evidence": [ { "id": "0050651", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050651" } ] }, { "uniprot_canonical_ac": "Q9NXB0-1", "uniprot_ac": "Q9NXB0", "uniprot_id": "MKS1_HUMAN", "refseq_ac": "NP_001308197", "glycoprotein": "yes", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "Tectonic-like complex member MKS1", "type": "recommended" }, { "name": "Meckel syndrome type 1 protein", "type": "synonym" }, { "name": "POC12 centriolar protein homolog", "type": "synonym" }, { "name": "meckel syndrome type 1 protein", "type": "synonym" }, { "name": "tectonic-like complex member MKS1 isoform 3", "type": "synonym" }, { "name": "tectonic-like complex member MKS1", "type": "synonym" } ], "gene_names": [ { "name": "MKS1", "type": "recommended" }, { "name": "BBS13", "type": "synonym" }, { "name": "JBTS28", "type": "synonym" }, { "name": "MES", "type": "synonym" }, { "name": "MKS1", "type": "synonym" }, { "name": "MKS", "type": "synonym" }, { "name": "POC12", "type": "synonym" } ], "record_id": "Q9NXB0-1", "evidence": [ { "id": "0050651", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050651" } ] }, { "uniprot_canonical_ac": "Q49A26-1", "uniprot_ac": "Q49A26", "uniprot_id": "GLYR1_HUMAN", "refseq_ac": "NP_001295025", "glycoprotein": "yes", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "Cytokine-like nuclear factor N-PAC", "type": "recommended" }, { "name": "3-hydroxyisobutyrate dehydrogenase-like protein", "type": "synonym" }, { "name": "Glyoxylate reductase 1 homolog", "type": "synonym" }, { "name": "NPAC", "type": "synonym" }, { "name": "Nuclear protein NP60", "type": "synonym" }, { "name": "Nuclear protein of 60 kDa", "type": "synonym" }, { "name": "Nucleosome-destabilizing factor", "type": "synonym" }, { "name": "Putative oxidoreductase GLYR1", "type": "synonym" }, { "name": "cytokine-like nuclear factor N-PAC isoform 2", "type": "synonym" }, { "name": "cytokine-like nuclear factor n-pac", "type": "synonym" }, { "name": "hNDF", "type": "synonym" }, { "name": "nuclear protein 60 kDa", "type": "synonym" }, { "name": "nuclear protein 60kDa", "type": "synonym" }, { "name": "nuclear protein NP60", "type": "synonym" }, { "name": "nuclear protein of 60 kDa", "type": "synonym" }, { "name": "nucleosome-destabilizing factor", "type": "synonym" }, { "name": "putative oxidoreductase GLYR1", "type": "synonym" } ], "gene_names": [ { "name": "GLYR1", "type": "recommended" }, { "name": "BM045", "type": "synonym" }, { "name": "GLYR1", "type": "synonym" }, { "name": "HIBDL", "type": "synonym" }, { "name": "N-PAC", "type": "synonym" }, { "name": "NDF", "type": "synonym" }, { "name": "NP60", "type": "synonym" }, { "name": "NPAC", "type": "synonym" }, { "name": "hNDF", "type": "synonym" } ], "record_id": "Q49A26-1", "evidence": [ { "id": "0050651", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050651" } ] }, { "uniprot_canonical_ac": "Q9UG01-1", "uniprot_ac": "Q9UG01", "uniprot_id": "IF172_HUMAN", "refseq_ac": "NP_056477", "glycoprotein": "yes", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "Intraflagellar transport protein 172 homolog", "type": "recommended" }, { "name": "intraflagellar transport 172 homolog", "type": "synonym" }, { "name": "intraflagellar transport protein 172 homolog isoform 1", "type": "synonym" }, { "name": "intraflagellar transport protein 172 homolog", "type": "synonym" }, { "name": "selective LIM binding factor homolog", "type": "synonym" }, { "name": "wimple homolog", "type": "synonym" } ], "gene_names": [ { "name": "IFT172", "type": "recommended" }, { "name": "BBS20", "type": "synonym" }, { "name": "IFT172", "type": "synonym" }, { "name": "KIAA1179", "type": "synonym" }, { "name": "NPHP17", "type": "synonym" }, { "name": "RP71", "type": "synonym" }, { "name": "SLB", "type": "synonym" }, { "name": "SRTD10", "type": "synonym" }, { "name": "osm-1", "type": "synonym" }, { "name": "wim", "type": "synonym" } ], "record_id": "Q9UG01-1", "evidence": [ { "id": "0050651", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050651" } ] }, { "uniprot_canonical_ac": "Q96DT5-1", "uniprot_ac": "Q96DT5", "uniprot_id": "DYH11_HUMAN", "refseq_ac": "NP_001264044", "glycoprotein": "yes", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "Dynein axonemal heavy chain 11", "type": "recommended" }, { "name": "Axonemal beta dynein heavy chain 11", "type": "synonym" }, { "name": "Ciliary dynein heavy chain 11", "type": "synonym" }, { "name": "axonemal beta dynein heavy chain 11", "type": "synonym" }, { "name": "axonemal dynein heavy chain 11", "type": "synonym" }, { "name": "ciliary dynein heavy chain 11", "type": "synonym" }, { "name": "dynein axonemal heavy chain 11", "type": "synonym" }, { "name": "dynein heavy chain 11, axonemal", "type": "synonym" }, { "name": "dynein, axonemal, heavy polypeptide 11", "type": "synonym" }, { "name": "dynein, ciliary, heavy chain 11", "type": "synonym" } ], "gene_names": [ { "name": "DNAH11", "type": "recommended" }, { "name": "CILD7", "type": "synonym" }, { "name": "DNAH11", "type": "synonym" }, { "name": "DNAHBL", "type": "synonym" }, { "name": "DNAHC11", "type": "synonym" }, { "name": "DNHBL", "type": "synonym" }, { "name": "DPL11", "type": "synonym" } ], "record_id": "Q96DT5-1", "evidence": [ { "id": "0050651", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050651" } ] }, { "uniprot_canonical_ac": "Q14995-1", "uniprot_ac": "Q14995", "uniprot_id": "NR1D2_HUMAN", "refseq_ac": "NP_005117", "glycoprotein": "yes", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "Nuclear receptor subfamily 1 group D member 2", "type": "recommended" }, { "name": "EAR-1R", "type": "synonym" }, { "name": "Orphan nuclear hormone receptor BD73", "type": "synonym" }, { "name": "RVR", "type": "synonym" }, { "name": "Rev-erb alpha-related receptor", "type": "synonym" }, { "name": "Rev-erb-beta", "type": "synonym" }, { "name": "V-erbA-related protein 1-related", "type": "synonym" }, { "name": "nuclear receptor subfamily 1 group D member 2 isoform 1", "type": "synonym" }, { "name": "orphan nuclear hormone receptor BD73", "type": "synonym" }, { "name": "rev-erb alpha-related receptor", "type": "synonym" }, { "name": "rev-erb-beta", "type": "synonym" }, { "name": "rev-erba-alpha-related receptor", "type": "synonym" } ], "gene_names": [ { "name": "NR1D2", "type": "recommended" }, { "name": "BD73", "type": "synonym" }, { "name": "EAR-1R", "type": "synonym" }, { "name": "NR1D2", "type": "synonym" }, { "name": "REVERBB", "type": "synonym" }, { "name": "REVERBbeta", "type": "synonym" }, { "name": "RVR", "type": "synonym" } ], "record_id": "Q14995-1", "evidence": [ { "id": "0050651", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050651" } ] }, { "uniprot_canonical_ac": "P12644-1", "uniprot_ac": "P12644", "uniprot_id": "BMP4_HUMAN", "refseq_ac": "NP_001193", "glycoprotein": "yes", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "Bone morphogenetic protein 4", "type": "recommended" }, { "name": "BMP-2B", "type": "synonym" }, { "name": "BMP-4", "type": "synonym" }, { "name": "Bone morphogenetic protein 2B", "type": "synonym" }, { "name": "bone morphogenetic protein 2B", "type": "synonym" }, { "name": "bone morphogenetic protein 4 isoform a preproprotein", "type": "synonym" } ], "gene_names": [ { "name": "BMP4", "type": "recommended" }, { "name": "BMP2B1", "type": "synonym" }, { "name": "BMP2B", "type": "synonym" }, { "name": "BMP4", "type": "synonym" }, { "name": "DVR4", "type": "synonym" }, { "name": "MCOPS6", "type": "synonym" }, { "name": "OFC11", "type": "synonym" }, { "name": "ZYME", "type": "synonym" } ], "record_id": "P12644-1", "evidence": [ { "id": "0050651", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050651" } ] }, { "uniprot_canonical_ac": "O00622-1", "uniprot_ac": "O00622", "uniprot_id": "CCN1_HUMAN", "refseq_ac": "NP_001545", "glycoprotein": "yes", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "CCN family member 1", "type": "recommended" }, { "name": "CCN family member 1 precursor", "type": "synonym" }, { "name": "CCN family member 1", "type": "synonym" }, { "name": "Cellular communication network factor 1", "type": "synonym" }, { "name": "Cysteine-rich angiogenic inducer 61", "type": "synonym" }, { "name": "IBP-10", "type": "synonym" }, { "name": "IGF-binding protein 10", "type": "synonym" }, { "name": "IGFBP-10", "type": "synonym" }, { "name": "Insulin-like growth factor-binding protein 10", "type": "synonym" }, { "name": "Protein CYR61", "type": "synonym" }, { "name": "Protein GIG1", "type": "synonym" }, { "name": "cysteine rich angiogenic inducer 61", "type": "synonym" }, { "name": "cysteine-rich heparin-binding protein 61", "type": "synonym" }, { "name": "cysteine-rich, anigogenic inducer, 61", "type": "synonym" }, { "name": "insulin-like growth factor-binding protein 10", "type": "synonym" }, { "name": "protein CYR61", "type": "synonym" } ], "gene_names": [ { "name": "CCN1", "type": "recommended" }, { "name": "CCN1", "type": "synonym" }, { "name": "CYR61", "type": "synonym" }, { "name": "GIG1", "type": "synonym" }, { "name": "IBP-10", "type": "synonym" }, { "name": "IGFBP-10", "type": "synonym" }, { "name": "IGFBP10", "type": "synonym" } ], "record_id": "O00622-1", "evidence": [ { "id": "0050651", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050651" } ] }, { "uniprot_canonical_ac": "Q96HD1-1", "uniprot_ac": "Q96HD1", "uniprot_id": "CREL1_HUMAN", "refseq_ac": "NP_001026887", "glycoprotein": "yes", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "Protein disulfide isomerase CRELD1", "type": "recommended" }, { "name": "5.3.4.1", "type": "synonym" }, { "name": "Cysteine-rich with EGF-like domain protein 1", "type": "synonym" }, { "name": "cysteine rich with EGF like domains 1", "type": "synonym" }, { "name": "protein disulfide isomerase CRELD1 isoform 1 precursor", "type": "synonym" }, { "name": "protein disulfide isomerase CRELD1", "type": "synonym" } ], "gene_names": [ { "name": "CRELD1", "type": "recommended" }, { "name": "AVSD2", "type": "synonym" }, { "name": "CIRRIN", "type": "synonym" }, { "name": "CRELD1", "type": "synonym" }, { "name": "JELANS", "type": "synonym" }, { "name": "PRO214", "type": "synonym" } ], "record_id": "Q96HD1-1", "evidence": [ { "id": "0050651", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050651" } ] } ], "glycans": [], "biomarkers": [], "association_flag": "1000", "record_id": "doid.0050651" }