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"id": "MONDO:0013848", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013848", "name": "dilated cardiomyopathy 2B", "description": "Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the GATAD1 gene." }, { "id": "MONDO:0013848", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013848", "name": "CMD2B", "description": "" }, { "id": "MONDO:0013848", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013848", "name": "GATAD1 familial isolated dilated cardiomyopathy", "description": "" }, { "id": "MONDO:0013848", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013848", "name": "cardiomyopathy, dilated, type 2B", "description": "" }, { "id": "MONDO:0013848", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013848", "name": "dilated cardiomyopathy 2B", "description": "" }, { "id": "MONDO:0013848", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013848", "name": "dilated cardiomyopathy type 2B", "description": "" }, { "id": "MONDO:0013848", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013848", "name": "familial isolated dilated cardiomyopathy caused by mutation in GATAD1", "description": "" }, { "id": "MONDO:0013848", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013848", "name": "cardiomyopathy, dilated, 2B", "description": "" }, { "id": "MIM:614672", "resource": "MIM", "url": "https://www.omim.org/entry/614672", "name": "Cardiomyopathy, dilated, 2B", "description": "Cardiomyopathy, dilated, 2B" } ], "evidence": [ { "id": "0110441", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0110441" } ] } ], "snv": [], "mutagenesis": [], "expression_tissue": [], "expression_disease": [], "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "evidence": [ { "database": "UniProtKB", "id": "D4A3T2", "url": "https://www.uniprot.org/uniprot/D4A3T2" } ], "common_name": "Rat" } ], "gene": [ { "name": "Gatad1", "url": "https://www.uniprot.org/uniprot/D4A3T2", "locus": { "chromosome": "4", "start_pos": 30519107, "end_pos": 30507538, "strand": "-", "evidence": [ { "database": "Ensembl Gene", "id": "ENSRNOG00000008613", "url": "https://www.ensembl.org/id/ENSRNOG00000008613" } ] } } ], "crossref": [ { "id": "ENSRNOG00000008613", "url": "https://bgee.org/?page=gene&gene_id=ENSRNOG00000008613", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "500005", "url": "https://www.ncbi.nlm.nih.gov/gene/500005", "database": "GeneID", "categories": [ "Genome Annotation" ] }, { "id": "IPR000679", "url": "https://www.ebi.ac.uk/interpro/entry/IPR000679", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR013088", "url": "https://www.ebi.ac.uk/interpro/entry/IPR013088", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR039050", "url": "https://www.ebi.ac.uk/interpro/entry/IPR039050", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "GGTYYAQ", "url": "https://omabrowser.org/oma/group/GGTYYAQ/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "2900732at2759", "url": "http://www.orthodb.org/?query=2900732at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR13340", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR13340", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR13340:SF2", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR13340:SF2", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "XP_001068512", "url": "https://www.ncbi.nlm.nih.gov/protein/XP_001068512", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "1562004", "url": "http://rgd.mcw.edu/tools/genes/genes_view.cgi?id=1562004", "database": "RGD", "categories": [ "Organism-specific" ] }, { "id": "D4A3T2", "url": "https://www.uniprot.org/uniprot/D4A3T2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "D4A3T2-1", "url": "https://www.uniprot.org/uniprot/D4A3T2-1", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MPLGLKPTCSMCKTTSSSMWKKSPQGEILCHHCTGRGGGGGGAGVAGGTGGGGGFGTATFATTSAGPSQSNGGGGGKQSKQEIHRRSARLRNTKYKSAPAAEKKVSTKGKGRRHIFKLKNPIKAPESVSTIVTAESIFYKGVYYQIGDVVSVIDEQDGKPYYAQIRGFIQDQYCEKSAALTWLIPTLASPRDQFDPASYIIGPEEDLPRKMEYLEFVCHAPSEYFKSRSSPFPTVPTRPEKGYIWTHVGPTPAITMKETVANHL", "length": 264, "header": "tr|D4A3T2-1|D4A3T2_RAT Isoform 1 of GATA zinc finger domain-containing protein 1 OS=Rattus norvegicus OX=10116 GN=Gatad1 PE=4 SV=1 CANONICAL=D4A3T2-1" }, "isoforms": [ { "isoform_ac": "D4A3T2-1", "url": "", "sequence": { "sequence": "MPLGLKPTCSMCKTTSSSMWKKSPQGEILCHHCTGRGGGGGGAGVAGGTGGGGGFGTATFATTSAGPSQSNGGGGGKQSKQEIHRRSARLRNTKYKSAPAAEKKVSTKGKGRRHIFKLKNPIKAPESVSTIVTAESIFYKGVYYQIGDVVSVIDEQDGKPYYAQIRGFIQDQYCEKSAALTWLIPTLASPRDQFDPASYIIGPEEDLPRKMEYLEFVCHAPSEYFKSRSSPFPTVPTRPEKGYIWTHVGPTPAITMKETVANHL", "length": 264, "header": "tr|D4A3T2-1|D4A3T2_RAT Isoform 1 of GATA zinc finger domain-containing protein 1 OS=Rattus norvegicus OX=10116 GN=Gatad1 PE=4 SV=1 CANONICAL=D4A3T2-1" }, "locus": { "chromosome": "4", "start_pos": 30517738, "end_pos": 30507909, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENSRNOT00000067376.4", "url": "https://www.ensembl.org/id/ENSRNOT00000067376.4" }, { "database": "Ensembl Peptide", "id": "ENSRNOP00000060484.2", "url": "https://www.ensembl.org/id/ENSRNOP00000060484.2" } ] } } ], "glycosylation": [], "phosphorylation": [], "glycation": [], "keywords": [], "publication": [], "pathway": [], "orthologs": [ { "uniprot_canonical_ac": "Q8WUU5-1", "protein_name": "GATA zinc 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"GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "D4A3T2", "url": "https://www.uniprot.org/uniprot/D4A3T2" } ], "pmid": "" }, { "name": "sequence-specific DNA binding", "id": "GO:0043565", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043565", "evidence": [ { "database": "UniProtKB", "id": "D4A3T2", "url": "https://www.uniprot.org/uniprot/D4A3T2" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [], "ptm_annotation": [], "interactions": [], "reactions": [], "reaction_participants": [], "reaction_enzymes": [], "biomarkers": [], "synthesized_glycans": [], "cluster_types": [ { "name": "homologset.mgi", "label": "MGI Homologs" } ], "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 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