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"resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": 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"name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate 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Familial prostate cancer (FPC) is a malignant tumor of the prostate with an early onset. FPC is either asymptomatic or causes mictionary symptoms, erectile dysfunction, bone pain, venous compression and infectious or inflammatory syndrome (for the metastatic forms). It is also characterized by familial antecedents." }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:610997", "resource": "MIM", "url": "https://www.omim.org/entry/610997", "name": "Prostate cancer, hereditary, 9", "description": "Prostate cancer, hereditary, 9" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" }, { "id": "MIM:176807", "resource": "MIM", "url": 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Mol. Biol.", "date": "1992", "authors": "Fermi G, Perutz M F, Williamson D, Stein P, Shih D T", "reference": { "type": "PubMed", "id": "1507231", "url": "https://pubmed.ncbi.nlm.nih.gov/1507231" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P68871-1", "protein_name": "Hemoglobin subunit beta", "gene_name": "HBB", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P68871", "url": "https://www.uniprot.org/uniprotkb/P68871" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.1507231", "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", 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"count": 0 } ], "sort_fields": [] } ] }, { "title": "Beta 141 Leu is not deleted in the unstable haemoglobin Atlanta-Coventry but is replaced by a novel amino acid of mass 129 daltons.", "journal": "British journal of haematology", "date": "1992", "authors": "Brennan SO, Shaw J, Allen J, George PM", "reference": { "type": "PubMed", "id": "1520632", "url": "https://pubmed.ncbi.nlm.nih.gov/1520632" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P68871-1", "protein_name": "Hemoglobin subunit beta", "gene_name": "HBB", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P68871", "url": "https://www.uniprot.org/uniprotkb/P68871" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.1520632", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { 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Asp identified in an asymptomatic Korean family by direct sequencing: suggesting a new insight into Hb Beckman mutation.", "journal": "International journal of laboratory hematology", "date": "2010", "authors": "Kim SY, Kim GY, Jo SA, Lee EH, Cho EH, Hwang SH, Lee EY", "reference": { "type": "PubMed", "id": "19453576", "url": "https://pubmed.ncbi.nlm.nih.gov/19453576" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P68871-1", "protein_name": "Hemoglobin subunit beta", "gene_name": "HBB", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P68871", "url": "https://www.uniprot.org/uniprotkb/P68871" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.19453576", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": 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Natl. Acad. Sci. U.S.A.", "date": "1990", "authors": "Thein S L, Hesketh C, Taylor P, Temperley I J, Hutchinson R M, Old J M, Wood W G, Clegg J B, Weatherall D J", "reference": { "type": "PubMed", "id": "1971109", "url": "https://pubmed.ncbi.nlm.nih.gov/1971109" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P68871-1", "protein_name": "Hemoglobin subunit beta", "gene_name": "HBB", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P68871", "url": "https://www.uniprot.org/uniprotkb/P68871" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.1971109", "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", 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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": "Hb Zengcheng or alpha 2 beta(2)114(G16)Leu----Met.", "journal": "Hemoglobin", "date": "1990", "authors": "Plaseska D, Wilson JB, Gu LH, Kutlar F, Huisman TH, Zeng YT, Shen M", "reference": { "type": "PubMed", "id": "2079435", "url": "https://pubmed.ncbi.nlm.nih.gov/2079435" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P68871-1", "protein_name": "Hemoglobin subunit beta", "gene_name": "HBB", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P68871", "url": "https://www.uniprot.org/uniprotkb/P68871" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.2079435", "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 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"field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Hb Matera [beta 55(D6)Met----Lys]: a new unstable hemoglobin variant in an Italian family.", "journal": "Hemoglobin", "date": "1990", "authors": "Sciarratta GV, Ivaldi G", "reference": { "type": "PubMed", "id": "2384314", "url": "https://pubmed.ncbi.nlm.nih.gov/2384314" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P68871-1", "protein_name": "Hemoglobin subunit beta", "gene_name": "HBB", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P68871", "url": "https://www.uniprot.org/uniprotkb/P68871" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.2384314", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { 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D", "date": "2013", "authors": "Safo Martin K, Ko Tzu-Ping, Abdulmalik Osheiza, He Zhenning, Wang Andrew H-J, Schreiter Eric R, Russell J Eric", "reference": { "type": "PubMed", "id": "24100324", "url": "https://pubmed.ncbi.nlm.nih.gov/24100324" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P68871-1", "protein_name": "Hemoglobin subunit beta", "gene_name": "HBB", "tax_name": "Human" }, { "uniprot_canonical_ac": "P02008-1", "protein_name": "Hemoglobin subunit zeta", "gene_name": "HBZ", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P68871", "url": "https://www.uniprot.org/uniprotkb/P68871" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.24100324", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": 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"authors": "Gilbert AT, Fleming PJ, Sumner DR, Hughes WG, Holland RA, Tibben EA", "reference": { "type": "PubMed", "id": "2599880", "url": "https://pubmed.ncbi.nlm.nih.gov/2599880" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P68871-1", "protein_name": "Hemoglobin subunit beta", "gene_name": "HBB", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P68871", "url": "https://www.uniprot.org/uniprotkb/P68871" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.2599880", "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", 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"Mass spectrometry based characterization of Hb Beckman variant in a falsely elevated HbA(1c) sample.", "journal": "Analytical biochemistry", "date": "2015", "authors": "Das R, Muralidharan M, Mitra G, Bhat V, Mathew B, Pal D, Ross C, Mandal AK", "reference": { "type": "PubMed", "id": "26209877", "url": "https://pubmed.ncbi.nlm.nih.gov/26209877" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P68871-1", "protein_name": "Hemoglobin subunit beta", "gene_name": "HBB", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P68871", "url": "https://www.uniprot.org/uniprotkb/P68871" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.26209877", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": 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A cause of rare anemia misdiagnosis.", "journal": "American journal of hematology", "date": "2017", "authors": "Manu Pereira MD, Ropero P, Loureiro C, Vives Corrons JL", "reference": { "type": "PubMed", "id": "28066926", "url": "https://pubmed.ncbi.nlm.nih.gov/28066926" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P68871-1", "protein_name": "Hemoglobin subunit beta", "gene_name": "HBB", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P68871", "url": "https://www.uniprot.org/uniprotkb/P68871" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.28066926", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ 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Localization of the haptoglobin-binding sites on the beta-chain of human haemoglobin by synthetic overlapping peptides encompassing the entire chain.", "journal": "Biochem. 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"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 }, { 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Isolation and characterization of Portland hemoglobin components and their constituent globin chains.", "journal": "J. Biol. Chem.", "date": "1984", "authors": "Randhawa Z I, Jones R T, Lie-Injo L E", "reference": { "type": "PubMed", "id": "6539334", "url": "https://pubmed.ncbi.nlm.nih.gov/6539334" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P68871-1", "protein_name": "Hemoglobin subunit beta", "gene_name": "HBB", "tax_name": "Human" }, { "uniprot_canonical_ac": "P02008-1", "protein_name": "Hemoglobin subunit zeta", "gene_name": "HBZ", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P68871", "url": "https://www.uniprot.org/uniprotkb/P68871" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.6539334", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 2 } ], 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"database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/6585831" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 73, "end_pos": 73, "sequence_org": "S", "sequence_mut": "null", "comment": "Germline mutation passed 1 filters: o-glyco-site-loss (S->X).", "chr_id": "11", "chr_pos": "5226671_5226675deli", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S73", "keywords": [ "ebi", "germline", "disease" ], "disease": [ { "disease_id": "DOID:12241", "recommended_name": { "id": "DOID:12241", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12241", "name": "beta thalassemia", "description": "A thalassemia characterized by the reduced or absent synthesis of the beta globin chains of hemoglobin." }, "synonyms": [ { "id": "MONDO:0013517", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013517", "name": "beta-thalassemia HBB/LCRB", "description": "Abnormal clinical manifestations of beta thalassemia that are as a result of the underlying genotype." }, { "id": "MONDO:0013517", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013517", "name": "thalassemia, beta", "description": "" }, { "id": "MONDO:0013517", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013517", "name": "thalassemia, hispanic gamma-delta-beta", "description": "" }, { "id": "MIM:613985", "resource": "MIM", "url": "https://www.omim.org/entry/613985", "name": "Beta-thalassemia", "description": "Beta-thalassemia" } ], "unlinked_id_list": [], "evidence": [ { "id": "12241", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12241" } ] }, { "disease_id": "DOID:0080770", "recommended_name": { "id": "DOID:0080770", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080770", "name": "autosomal dominant beta thalassemia", "description": "A beta thalassemia that has_material_basis_in one dominantly inherited mutated HBB gene 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"Beta-thalassemia, dominant, inclusion body type", "description": "Beta-thalassemia, dominant, inclusion body type" } ], "unlinked_id_list": [], "evidence": [ { "id": "603902", "database": "MIM", "url": "https://www.omim.org/entry/603902" }, { "id": "0080770", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080770" } ] }, { "disease_id": "DOID:0111632", "recommended_name": { "id": "DOID:0111632", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111632", "name": "familial erythrocytosis 6", "description": "A primary polycythemia characterized by high oxygen affinity hemoglobin and compensatory polycythemia that has_material_basis_in heterozygous mutation in HBB on chromosome 11p15.4." }, "synonyms": [ { "id": "DOID:0111632", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111632", "name": "ECYT6", "description": "" }, { "id": "DOID:0111632", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111632", "name": "beta-globin type erythrocytosis", "description": "" }, { "id": "DOID:0111632", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111632", "name": "beta-globin type polycythemia", "description": "" }, { "id": "MONDO:0054801", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0054801", "name": "erythrocytosis, familial, 6", "description": "" }, { "id": "MONDO:0054801", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0054801", "name": "erythrocytosis 6", "description": "" }, { "id": "MONDO:0054801", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0054801", "name": "ECYT6", "description": "" } ], "unlinked_id_list": [], "evidence": [ { "id": "0111632", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111632" } ] }, { "disease_id": "DOID:0081445", "recommended_name": { "id": "DOID:0081445", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0081445", "name": "sickle cell disease", "description": "A blood protein disease that is characterized by chronic hemolytic anemia and intermittent vaso-occlusive events that result in tissue ischemia leading to acute and chronic pain as well as organ damage that can affect any organ system, resulting from the replacement of one of the beta-globin subunits in hemoglobin with atypical hemoglobin molecules called hemoglobin S which can distort red blood cells into a sickle or crescent shape. Sickle cell disease subtypes should include a detailed genotypic description for the hemoglobin molecules (e.g., Hb S/S, Hb S/C, Hb S/0-thalassemia)." }, "synonyms": [ { "id": "MONDO:0011382", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011382", "name": "sickle cell disease", "description": "Sickle cell anemias are chronic hemolytic diseases that may induce three types of acute accidents: severe anemia, severe bacterial infections, and ischemic vasoocclusive accidents (VOA) caused by sickle-shaped red blood cells obstructing small blood vessels and capillaries. Many diverse complications can occur." }, { "id": "MONDO:0011382", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011382", "name": "Haemoglobin S disease without crisis", "description": "" }, { "id": "MONDO:0011382", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011382", "name": "Hb-S/Hb-C disease", "description": "" }, { "id": "MONDO:0011382", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011382", "name": "Sickle Cell Disease", "description": "" }, { "id": "MONDO:0011382", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011382", "name": "sickle cell anemia", "description": "" }, { "id": "MONDO:0011382", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011382", "name": "sickle cell disease", "description": "" }, { "id": "MONDO:0011382", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011382", "name": "sickle-cell/Hb-C disease without crisis", "description": "" }, { "id": "MONDO:0011382", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011382", "name": "sickling disorder due to Haemoglobin S", "description": "" }, { "id": "MONDO:0011382", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011382", "name": "sickling disorder due to Hemoglobin S", "description": "" }, { "id": "MONDO:0011382", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011382", "name": "HPA 1 recognition polymorphism, beta-globin-related", "description": "" }, { "id": "MONDO:0011382", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011382", "name": "HPA1", "description": "" }, { "id": "MONDO:0011382", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011382", "name": "Haemoglobin S disease", "description": "" }, { "id": "MONDO:0011382", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011382", "name": "HbS disease", "description": "" }, { "id": "MONDO:0011382", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011382", "name": "Hemoglobin S disease", "description": "" }, { "id": "MIM:603903", "resource": "MIM", "url": "https://www.omim.org/entry/603903", "name": "Sickle cell disease", "description": "Sickle cell disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "603903", "database": "MIM", "url": "https://www.omim.org/entry/603903" }, { "id": "0081445", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0081445" } ] }, { "disease_id": "DOID:0111363", "recommended_name": { "id": "DOID:0111363", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111363", "name": "Heinz body anemia", "description": "A congenital nonspherocytic hemolytic anemia characterized by nonspherocytic hemolytic anemia of Dacie type I with Heinz bodies seen in erythrocytes after splenectomy that has_material_basis_in heterozygous mutation in the HBA1, HBA2 or HBB genes on chromosome 11p15.4, 16p13.3, and 16p13.3, respectively." }, "synonyms": [ { "id": "MONDO:0007705", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007705", "name": "Heinz body anemia", "description": "" }, { "id": "MONDO:0007705", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007705", "name": "Heinz body anemias, alpha-", "description": "" }, { "id": "MIM:140700", "resource": "MIM", "url": "https://www.omim.org/entry/140700", "name": "Heinz body anemias", "description": "Heinz body anemias" } ], "unlinked_id_list": [], "evidence": [ { "id": "0111363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111363" }, { "id": "0111363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111363" }, { "id": "0111363", "database": "AGR", "url": 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[beta 120(GH3) LYS leads to ILE]: a new fast-moving variant found in China.", "journal": "Hemoglobin", "date": "1983", "authors": "Lu YQ, Fan JL, Liu JF, Hu HL, Peng XH, Huang CH, Huang PY, Chen SS, Jai PC, Yang KG, et al.", "reference": { "type": "PubMed", "id": "6618888", "url": "https://pubmed.ncbi.nlm.nih.gov/6618888" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P68871-1", "protein_name": "Hemoglobin subunit beta", "gene_name": "HBB", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P68871", "url": "https://www.uniprot.org/uniprotkb/P68871" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.6618888", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", 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"protein_name": "Hemoglobin subunit beta", "gene_name": "HBB", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P68871", "url": "https://www.uniprot.org/uniprotkb/P68871" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.6629822", "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 }, 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"count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "A new hemoglobin with high oxygen affinity--hemoglobin bunbury: alpha 2 beta 2 [94 (FG1) Asp replaced by Asn].", "journal": "Hemoglobin", "date": "1983", "authors": "Como PF, Kennett D, Wilkinson T, Kronenberg H", "reference": { "type": "PubMed", "id": "6629823", "url": "https://pubmed.ncbi.nlm.nih.gov/6629823" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P68871-1", "protein_name": "Hemoglobin subunit beta", "gene_name": "HBB", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P68871", "url": "https://www.uniprot.org/uniprotkb/P68871" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.6629823", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], 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}, { "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": "Hemoglobin Maputo: a new beta-chain variant (alpha 2 beta 2 47 (CD6) Asp replaced by Tyr) in combination with hemoglobin S, identified by high performance liquid chromatography (HPLC).", "journal": "Hemoglobin", "date": "1983", "authors": "Marinucci M, Boissel JP, Massa A, Wajcman H, Tentori L, Labie D", "reference": { "type": "PubMed", "id": "6629824", "url": "https://pubmed.ncbi.nlm.nih.gov/6629824" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P68871-1", "protein_name": "Hemoglobin subunit beta", "gene_name": "HBB", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P68871", "url": "https://www.uniprot.org/uniprotkb/P68871" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.6629824", "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": 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"journal": "FEBS letters", "date": "1978", "authors": "Moo-Penn WF, Wolff JA, Simon G, Vacek M, Jue DL, Johnson MH", "reference": { "type": "PubMed", "id": "668922", "url": "https://pubmed.ncbi.nlm.nih.gov/668922" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P68871-1", "protein_name": "Hemoglobin subunit beta", "gene_name": "HBB", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P68871", "url": "https://www.uniprot.org/uniprotkb/P68871" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.668922", "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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Mol. Biol.", "date": "1984", "authors": "Fermi G, Perutz M F, Shaanan B, Fourme R", "reference": { "type": "PubMed", "id": "6726807", "url": "https://pubmed.ncbi.nlm.nih.gov/6726807" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P68871-1", "protein_name": "Hemoglobin subunit beta", "gene_name": "HBB", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P68871", "url": "https://www.uniprot.org/uniprotkb/P68871" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.6726807", "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", 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9606, "evidence": [ { "database": "UniProtKB", "id": "P68871", "url": "https://www.uniprot.org/uniprotkb/P68871" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.6857757", "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", 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A new abnormal hemoglobin present as a silent beta-thalassemia.", "journal": "FEBS letters", "date": "1982", "authors": "Arous N, Galacteros F, Fessas P, Loukopoulos D, Blouquit Y, Komis G, Sellaye M, Boussiou M, Rosa J", "reference": { "type": "PubMed", "id": "7173395", "url": "https://pubmed.ncbi.nlm.nih.gov/7173395" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P68871-1", "protein_name": "Hemoglobin subunit beta", "gene_name": "HBB", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P68871", "url": "https://www.uniprot.org/uniprotkb/P68871" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.7173395", "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": "Hemoglobin J Altgeld Gardens. A hemoglobin variant with a substitution of the proximal histidine of the beta-chain.", "journal": "Hemoglobin", "date": "1978", "authors": "Adams JG 3rd, Przywara KP, Heller P, Shamsuddin M", "reference": { "type": "PubMed", "id": "721609", "url": "https://pubmed.ncbi.nlm.nih.gov/721609" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P68871-1", "protein_name": "Hemoglobin subunit beta", "gene_name": "HBB", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P68871", "url": "https://www.uniprot.org/uniprotkb/P68871" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "snv": [ { "evidence": [ { "id": "rs34868397", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs34868397" }, { "id": "rs34868397", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs34868397" }, { "id": "4283785", 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[] } ] }, { "title": "Hemoglobin Miyashiro (beta 23[B5] val substituting for gly) an electrophoretically silent variant discovered by the isopropanol test.", "journal": "Hemoglobin", "date": "1981", "authors": "Nakatsuji T, Miwa S, Ohba Y, Hattori Y, Miyaji T, Miyata H, Shinohara T, Hori T, Takayama J", "reference": { "type": "PubMed", "id": "7338468", "url": "https://pubmed.ncbi.nlm.nih.gov/7338468" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P68871-1", "protein_name": "Hemoglobin subunit beta", "gene_name": "HBB", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P68871", "url": "https://www.uniprot.org/uniprotkb/P68871" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.7338468", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": 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