[ { "title": "A novel duplication/insertion mutation of NEFL in a patient with Charcot-Marie-Tooth disease.", "journal": "American journal of medical genetics. Part A", "date": "2006", "authors": "Leung CL, Nagan N, Graham TH, Liem RK", "reference": { "type": "PubMed", "id": "16619203", "url": "https://pubmed.ncbi.nlm.nih.gov/16619203" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P07196-1", "protein_name": "Neurofilament light polypeptide", "gene_name": "NEFL", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P07196", "url": "https://www.uniprot.org/uniprotkb/P07196" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "snv": [ { "evidence": [ { "id": "rs58640772", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs58640772" }, { "id": "16619203", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/16619203" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 21, "end_pos": 21, "sequence_org": "T", "sequence_mut": "null", "comment": "Germline mutation passed 1 filters: o-glyco-site-loss (T->X).", "chr_id": "8", "chr_pos": "24956457_24956469", "ref_nt": "p", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T21", "keywords": [ "ebi", "germline", "disease" ], "disease": [ { "disease_id": "DOID:0110165", "recommended_name": { "id": "DOID:0110165", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110165", "name": "Charcot-Marie-Tooth disease type 2E", "description": "A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the light polypeptide neurofilament protein gene (NEFL) on chromosome 8p21." }, "synonyms": [ { "id": "DOID:0110165", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110165", "name": "autosomal dominant Charcot-Marie-Tooth disease type 2E", "description": "" }, { "id": "DOID:0110165", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110165", "name": "CMT2E", "description": "" }, { "id": "DOID:0110165", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110165", "name": "Charcot-Marie-Tooth neuropathy type 2E", "description": "" }, { "id": "MONDO:0011894", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011894", "name": "Charcot-Marie-Tooth disease type 2E", "description": "Autosomal dominant Charcot-Marie-Tooth disease type 2E (CMT2E) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. 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"resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011894", "name": "CMT 2E", "description": "" }, { "id": "MONDO:0011894", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011894", "name": "Charcot Marie Tooth disease type 2E", "description": "" }, { "id": "MONDO:0011894", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011894", "name": "Charcot-Marie-Tooth disease, axonal, type 2E", "description": "" }, { "id": "MIM:607684", "resource": "MIM", "url": "https://www.omim.org/entry/607684", "name": "Charcot-Marie-Tooth disease, axonal, type 2E", "description": "Charcot-Marie-Tooth disease, axonal, type 2E" } ], "unlinked_id_list": [], "evidence": [ { "id": "607684", "database": "MIM", "url": "https://www.omim.org/entry/607684" }, { "id": "0110165", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110165" } ] } ], "filter_code": 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Giannini R, Lupi C, Salvatore G, Miccoli P, Proietti A, Elisei R, Santoro M, Basolo F", "reference": { "type": "PubMed", "id": "17542667", "url": "https://pubmed.ncbi.nlm.nih.gov/17542667" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P15056-1", "protein_name": "Serine/threonine-protein kinase B-raf", "gene_name": "BRAF", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P15056", "url": "https://www.uniprot.org/uniprotkb/P15056" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.17542667", "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 } ], "sort_fields": [] }, { "table_id": "glycosylation", "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": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "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_reported_with_glycan", "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_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": "BRAF V600E mutation and p27 kip1 expression in papillary carcinomas of the thyroid