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[] } ] }, { "title": "HLX is a candidate gene for a pattern of anomalies associated with congenital diaphragmatic hernia, short bowel, and asplenia.", "journal": "American journal of medical genetics. 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Chem.", "date": "1989", "authors": "Landsman D, McBride O W, Soares N, Crippa M P, Srikantha T, Bustin M", "reference": { "type": "PubMed", "id": "2563381", "url": "https://pubmed.ncbi.nlm.nih.gov/2563381" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P05114-1", "protein_name": "Non-histone chromosomal protein HMG-14", "gene_name": "HMGN1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P05114", "url": "https://www.uniprot.org/uniprotkb/P05114" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.2563381", "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" ] }, { 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Genome", "date": "2000", "authors": "Chopra V S, Metzler M, Rasper D M, Engqvist-Goldstein A E, Singaraja R, Gan L, Fichter K M, McCutcheon K, Drubin D, Nicholson D W, Hayden M R", "reference": { "type": "PubMed", "id": "11063258", "url": "https://pubmed.ncbi.nlm.nih.gov/11063258" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "O75146-1", "protein_name": "Huntingtin-interacting protein 1-related protein", "gene_name": "HIP1R", "tax_name": "Human" }, { "uniprot_canonical_ac": "O00291-1", "protein_name": "Huntingtin-interacting protein 1", "gene_name": "HIP1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O75146", "url": "https://www.uniprot.org/uniprotkb/O75146" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.11063258", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], 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Reduces colocalization and interaction with SLC9A1; when associated with A-134.", "evidence": [ { "database": "UniProtKB", "id": "Q99653", "url": "https://www.uniprot.org/uniprotkb/Q99653" }, { "database": "PubMed", "id": "15035633", "url": "https://pubmed.ncbi.nlm.nih.gov/15035633" } ], "uniprot_canonical_ac": "Q99653-1" }, { "start_pos": 50, "end_pos": 50, "sequence_org": "D", "sequence_mut": "A", "comment": "Does not reduce calcium-binding, colocalization and interaction with SLC9A1.", "evidence": [ { "database": "UniProtKB", "id": "Q99653", "url": "https://www.uniprot.org/uniprotkb/Q99653" }, { "database": "PubMed", "id": "15035633", "url": "https://pubmed.ncbi.nlm.nih.gov/15035633" } ], "uniprot_canonical_ac": "Q99653-1" } ], "record_id": "pubmed.15035633", "abstract": "", "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 16 } ], "sort_fields": [ 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"gene_name": "LYVE1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q12891-1", "protein_name": "Hyaluronidase-2", "gene_name": "HYAL2", "tax_name": "Human" }, { "uniprot_canonical_ac": "P08236-1", "protein_name": "Beta-glucuronidase", "gene_name": "GUSB", "tax_name": "Human" }, { "uniprot_canonical_ac": "O75330-1", "protein_name": "Hyaluronan mediated motility receptor", "gene_name": "HMMR", "tax_name": "Human" }, { "uniprot_canonical_ac": "P38567-1", "protein_name": "Hyaluronidase PH-20", "gene_name": "SPAM1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q2M3T9-1", "protein_name": "Hyaluronidase-4", "gene_name": "HYAL4", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q12794-1", "protein_name": "Hyaluronidase-1", "gene_name": "HYAL1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8WWQ8-1", "protein_name": "Stabilin-2", "gene_name": "STAB2", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q8WUJ3-1", "protein_name": "Cell migration-inducing and hyaluronan-binding 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