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"choreatic disease", "description": "A movement disease characterized by brief, semi-directed, irregular movements that not repetitive or rhythmic, but appear to flow from one muscle to the next." }, "synonyms": [ { "id": "DOID:12859", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12859", "name": "chorea", "description": "" }, { "id": "DOID:12859", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12859", "name": "hereditary chorea", "description": "" }, { "id": "MONDO:0008979", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008979", "name": "chorea, benign familial", "description": "Benign hereditary chorea (BHC) is a rare movement disorder that beginsin infancy or childhood. Signs and symptoms in infants may include low muscle tone, involuntary movements (chorea), lung infections, and respiratory distress. Signs and symptoms in children may include delayed motor and walking milestones, jerky muscle movements (myoclonus), upper limb dystonia, motor tics, and vocal tics. The chorea often improves with time. In some cases, myoclonus persists or worsens. Children with BHC can havenormal intellect, but may have learning and behavior problems. Other signs and symptoms include thyroid problems (e.g., hypothyroidism) and lung disease (e.g., recurring infections). Treatment is tailored to each child. Tetrabenazine and levodopa have been tried in individual cases with some success. BHC is caused by mutations in the NKX2-1 gene (also known as the TITF1 gene). 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"sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Autosomal dominant transmission of congenital hypothyroidism, neonatal respiratory 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"glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "A novel TITF-1 mutation causes benign hereditary chorea with response to levodopa.", "journal": "Neurology", "date": "2005", "authors": "Asmus F, Horber V, Pohlenz J, Schwabe D, Zimprich A, Munz M, Sch\u00f6ning M, Gasser T", "reference": { "type": "PubMed", "id": "15955952", "url": "https://pubmed.ncbi.nlm.nih.gov/15955952" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P43699-1", "protein_name": "Homeobox protein Nkx-2.1", "gene_name": "NKX2-1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", 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[] } ] }, { "title": "Mutation analysis of core binding factor A1 in patients with cleidocranial dysplasia.", "journal": "American journal of human genetics", "date": "1999", "authors": "Quack I, Vonderstrass B, Stock M, Aylsworth AS, Becker A, Brueton L, Lee PJ, Majewski F, Mulliken JB, Suri M, Zenker M, Mundlos S, Otto F", "reference": { "type": "PubMed", "id": "10521292", "url": "https://pubmed.ncbi.nlm.nih.gov/10521292" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q13950-1", "protein_name": "Runt-related transcription factor 2", "gene_name": "RUNX2", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q13950", "url": "https://www.uniprot.org/uniprotkb/Q13950" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.10521292", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], 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}, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Cleidocranial dysplasia with decreased bone density and biochemical findings of hypophosphatasia.", "journal": "European journal of pediatrics", "date": "2002", "authors": "Morava E, Karteszi J, Weisenbach J, Caliebe A, Mundlos S, Mehes K", "reference": { "type": "PubMed", "id": "12424590", "url": "https://pubmed.ncbi.nlm.nih.gov/12424590" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q13950-1", "protein_name": "Runt-related transcription factor 2", "gene_name": "RUNX2", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q13950", "url": "https://www.uniprot.org/uniprotkb/Q13950" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.12424590", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], 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"table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Functional analysis of novel RUNX2 mutations in cleidocranial dysplasia.", "journal": "Mutagenesis", "date": "2017", "authors": "Zeng L, Wei J, Han D, Liu H, Liu Y, Zhao N, Sun S, Wang Y, Feng H", "reference": { "type": "PubMed", "id": "28505335", "url": "https://pubmed.ncbi.nlm.nih.gov/28505335" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q13950-1", "protein_name": "Runt-related transcription factor 2", "gene_name": "RUNX2", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q13950", "url": "https://www.uniprot.org/uniprotkb/Q13950" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.28505335", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { 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"table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "A novel RUNX2 mutation in exon 8, G462X, in a patient with Cleidocranial Dysplasia.", "journal": "Journal of cellular biochemistry", "date": "2018", "authors": "Jung YJ, Bae HS, Ryoo HM, Baek SH", "reference": { "type": "PubMed", "id": "28703881", "url": "https://pubmed.ncbi.nlm.nih.gov/28703881" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q13950-1", "protein_name": "Runt-related transcription factor 2", "gene_name": "RUNX2", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": 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patients with cleidocranial dysplasia.", "journal": "PloS one", "date": "2017", "authors": "Zhang X, Liu Y, Wang X, Sun X, Zhang C, Zheng S", "reference": { "type": "PubMed", "id": "28738062", "url": "https://pubmed.ncbi.nlm.nih.gov/28738062" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q13950-1", "protein_name": "Runt-related transcription factor 2", "gene_name": "RUNX2", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q13950", "url": "https://www.uniprot.org/uniprotkb/Q13950" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.28738062", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "uniprot_canonical_ac", 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], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Characterization of CADD522, a small molecule that inhibits RUNX2-DNA binding and exhibits antitumor activity.", "journal": "Oncotarget", "date": "2017-09-19", "authors": "Kim Myoung Sook, Gernapudi Ramkishore, Choi Eun Yong, Lapidus Rena G, Passaniti Antonino", "reference": { "type": "PubMed", "id": "29050333", "url": "https://pubmed.ncbi.nlm.nih.gov/29050333" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q13950-1", "protein_name": "Runt-related transcription factor 2", 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"count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "The cDNA cloning of the transcripts of human PEBP2alphaA/CBFA1 mapped to 6p12.3-p21.1, the locus for cleidocranial dysplasia.", "journal": "Oncogene", "date": "1997", "authors": "Zhang Y W, Bae S C, Takahashi E, Ito Y", "reference": { "type": "PubMed", "id": "9233771", "url": "https://pubmed.ncbi.nlm.nih.gov/9233771" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q13950-1", "protein_name": "Runt-related transcription factor 2", "gene_name": "RUNX2", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q13950", "url": "https://www.uniprot.org/uniprotkb/Q13950" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.9233771", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], 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the Immune Infiltration of Kidney Renal Clear Cell Carcinoma.", "journal": "BioMed research international", "date": "2021", "authors": "Chen Y, He F, Wang R, Yao M, Li Y, Guo D, He S", "reference": { "type": "PubMed", "id": "34708124", "url": "https://pubmed.ncbi.nlm.nih.gov/34708124" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q15080-1", "protein_name": "Neutrophil cytosol factor 4", "gene_name": "NCF4", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q15080", "url": "https://www.uniprot.org/uniprotkb/Q15080" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.34708124", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ 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