{ "uniprot_canonical_ac": "P02042-1", "uniprot_ac": "P02042", "uniprot_id": "HBD_HUMAN", "mass": { "chemical_mass": 16055.0, "monoisotopic_mass": 16055.0 }, "refseq": { "ac": "NP_000510", "name": "hemoglobin subunit delta", "summary": "The delta (HBD) and beta (HBB) genes are normally expressed in the adult: two alpha chains plus two beta chains constitute HbA, which in normal adult life comprises about 97% of the total hemoglobin. Two alpha chains plus two delta chains constitute HbA-2, which with HbF comprises the remaining 3% of adult hemoglobin. Five beta-like globin genes are found within a 45 kb cluster on chromosome 11 in the following order: 5'-epsilon--Ggamma--Agamma--delta--beta-3'. Mutations in the delta-globin gene are associated with beta-thalassemia. [provided by RefSeq, Jul 2008].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000510" }, "gene_names": [ { "name": "HBD", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P02042", "id": "P02042" }, { "name": "HBD", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000510", "id": "NP_000510" } ], "protein_names": [ { "name": "Hemoglobin subunit delta", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "P02042" }, { "name": "Delta-globin", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P02042" }, { "name": "Hemoglobin delta chain", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P02042" }, { "name": "delta globin; delta-globin chain; hemoglobin delta chain; hemoglobin, delta", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000510", "id": "NP_000510" }, { "name": "hemoglobin subunit delta", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000510", "id": "NP_000510" } ], "function": [ { "annotation": "Analysis of delta-globin gene alleles in Tunisians: description of three new delta-thalassemia mutations.", "evidence": [ { "database": "RefSeq", "id": "NP_000510", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000510" }, { "database": "PubMed", "id": "34341901", "url": "https://glygen.org/publication/PubMed/34341901" } ] }, { "annotation": "Delta-globin gene expression improves sickle cell disease in a humanised mouse model.", "evidence": [ { "database": "RefSeq", "id": "NP_000510", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000510" }, { "database": "PubMed", "id": "34046885", "url": "https://glygen.org/publication/PubMed/34046885" } ] }, { "annotation": "Detecting rare thalassemia in children with anemia using third-generation sequencing.", "evidence": [ { "database": "RefSeq", "id": "NP_000510", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000510" }, { "database": "PubMed", "id": "37548329", "url": "https://glygen.org/publication/PubMed/37548329" } ] }, { "annotation": "Involved in oxygen transport from the lung to the various peripheral tissues.", "evidence": [ { "database": "UniProtKB", "id": "P02042", "url": "https://www.uniprot.org/uniprot/P02042#function" } ] }, { "annotation": "Molecular characterization of a novel homozygous deletion in beta-globin cluster causing (deltabeta)[0]-Thalassemia among Tunisian family.", "evidence": [ { "database": "RefSeq", "id": "NP_000510", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000510" }, { "database": "PubMed", "id": "36214153", "url": "https://glygen.org/publication/PubMed/36214153" } ] }, { "annotation": "Mutational spectrum of HBD gene in the Chinese population: Description of 36 mutations including 11 novel variants.", "evidence": [ { "database": "RefSeq", "id": "NP_000510", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000510" }, { "database": "PubMed", "id": "37605839", "url": "https://glygen.org/publication/PubMed/37605839" } ] }, { "annotation": "The delta (HBD) and beta (HBB) genes are normally expressed in the adult: two alpha chains plus two beta chains constitute HbA, which in normal adult life comprises about 97% of the total hemoglobin. Two alpha chains plus two delta chains constitute HbA-2, which with HbF comprises the remaining 3% of adult hemoglobin. Five beta-like globin genes are found within a 45 kb cluster on chromosome 11 in the following order: 5'-epsilon--Ggamma--Agamma--delta--beta-3'. Mutations in the delta-globin gene are associated with beta-thalassemia. [provided by RefSeq, Jul 2008].", "evidence": [ { "database": "RefSeq", "id": "NP_000510", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000510" } ] } ], "disease": [], "snv": [], "mutagenesis": [], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "70.41", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000223609", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000223609" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "46.59", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000223609", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000223609" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "27.66", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000223609", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000223609" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "66.21", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000223609", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000223609" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "52.79", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000223609", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000223609" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "55.91", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000223609", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000223609" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "47.76", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000223609", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000223609" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "36.64", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000223609", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000223609" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "61.34", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000223609", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000223609" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "52.14", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000223609", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000223609" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "62.8", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000223609", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000223609" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "43.55", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000223609", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000223609" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "53.3", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000223609", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000223609" } ] } ], "expression_disease": [ { "significant": "Yes", "trend": "down", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "P02042", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P02042" } ], "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "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:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, on chromosome 7", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "predisposing for prostate cancer", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate carcinoma", "description": "Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma." }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate carcinoma", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, somatic", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, hereditary", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer aggressiveness", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "Prca1", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "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 cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer susceptibility, X-linked", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "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:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "P02042", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P02042" } ], "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, intestinal", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ] } ] }, { "significant": "No", "trend": "up", "name": "Urinary bladder cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11054", "evidence": [ { "database": "BioXpress", "id": "P02042", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P02042" } ], "disease": [ { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ] } ] }, { "significant": "No", "trend": "up", "name": "Head and neck cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11934", "evidence": [ { "database": "BioXpress", "id": "P02042", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P02042" } ], "disease": [ { "disease_id": "DOID:11934", "recommended_name": { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck cancer", "description": "An organ system cancer that arises in the head or neck region. This region includes the nasal cavity, sinuses, lips, mouth, salivary glands, throat, or larynx." }, "synonyms": [ { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck tumours", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head/neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "tumor of head and neck", "description": "" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Lung cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1324", "evidence": [ { "database": "BioXpress", "id": "P02042", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P02042" } ], "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "adenocarcinoma of lung, susceptibility to", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "Nonsmall cell lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "alveolar cell carcinoma", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung neoplasm", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Breast cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1612", "evidence": [ { "database": "BioXpress", "id": "P02042", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P02042" } ], "disease": [ { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "A thoracic cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "P02042", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P02042" } ], "disease": [ { "disease_id": "DOID:1781", "recommended_name": { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid cancer", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage." }, "synonyms": [ { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid gland cancer", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "Thyroid gland neoplasm", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "malignant neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "malignant tumour of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid neoplasm", "description": "" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Kidney cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:263", "evidence": [ { "database": "BioXpress", "id": "P02042", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P02042" } ], "disease": [ { "disease_id": "DOID:263", "recommended_name": { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "kidney cancer", "description": "A urinary system cancer that is located_in the kidney." }, "synonyms": [ { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant neoplasm of kidney except pelvis", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant tumour of kidney", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "renal cancer", "description": "" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ { "database": "BioXpress", "id": "P02042", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P02042" } ], "disease": [ { "disease_id": "DOID:3571", "recommended_name": { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "liver cancer", "description": "A hepatobiliary system cancer that is located_in the liver." }, "synonyms": [ { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Ca liver - primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Resectable malignant neoplasm of Liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "hepatic cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "hepatic neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant hepato-biliary neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant tumor of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "non-resectable primary hepatic malignant neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "primary liver cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "primary malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "resectable malignant neoplasm of the liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, not specified as primary or secondary", "description": "" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Uterine cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:363", "evidence": [ { "database": "BioXpress", "id": "P02042", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P02042" } ], "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ] } ] }, { "significant": "No", "trend": "up", "name": "Esophageal cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:5041", "evidence": [ { "database": "BioXpress", "id": "P02042", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P02042" } ], "disease": [ { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Aerodigestive tract cancer, susceptibility to", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Escc, susceptibility to", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, susceptibility to", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "gastric cardia adenocarcinoma, susceptibility to", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ] } ] }, { "significant": "No", "trend": "down", "name": "Colorectal cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:9256", "evidence": [ { "database": "BioXpress", "id": "P02042", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P02042" } ], "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "large intestine cancer", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ] } ] } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P02042", "url": "https://www.uniprot.org/uniprot/P02042" } ], "common_name": "Human" } ], "gene": [ { "name": "HBD", "url": "https://www.uniprot.org/uniprot/P02042", "locus": { "chromosome": "11", "start_pos": 15820, "end_pos": 14175, "strand": "-", "evidence": [ { "database": "Ensembl Gene", "id": "LRG_1335", "url": "https://www.ensembl.org/id/LRG_1335" } ] } } ], "crossref": [ { "id": "ENSG00000223609", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000223609", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "cd08925", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd08925", "database": "CDD", "categories": [ "Protein Classification" ] }, { "id": "HBD", "url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=HBD", "database": "GeneCards", "categories": [ "Gene Annotation", "Organism-specific" ] }, { "id": "3045", "url": "https://www.ncbi.nlm.nih.gov/gene/3045", "database": "GeneID", "categories": [ "Genome Annotation" ] }, { "id": "4829", "url": "https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=4829", "database": "HGNC", "categories": [ "Organism-specific" ] }, { "id": "C9JRG0", "url": "https://www.ebi.ac.uk/intact/interactors/id:C9JRG0*", "database": "IntAct", "categories": [ "Other" ] }, { "id": "P02042", "url": "https://www.ebi.ac.uk/intact/interactors/id:P02042*", "database": "IntAct", "categories": [ "Other" ] }, { "id": "IPR000971", "url": "https://www.ebi.ac.uk/interpro/entry/IPR000971", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR002337", "url": "https://www.ebi.ac.uk/interpro/entry/IPR002337", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR009050", "url": "https://www.ebi.ac.uk/interpro/entry/IPR009050", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR012292", "url": "https://www.ebi.ac.uk/interpro/entry/IPR012292", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "hsa:3045", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:3045", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "142000", "url": "http://www.omim.org/entry/142000", "database": "MIM", "categories": [ "Other" ] }, { "id": "NX_P02042", "url": "https://www.nextprot.org/entry/NX_P02042", "database": "neXtProt", "categories": [ "Protein", "Organism-specific" ] }, { "id": "P02042", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P02042", "database": "O-GlcNAc Database", "categories": [ "Glycoproteomics" ] }, { "id": "MVEWSEN", "url": "https://omabrowser.org/oma/group/MVEWSEN/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "5356926at2759", "url": "http://www.orthodb.org/?query=5356926at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR11442", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11442", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR11442:SF42", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11442:SF42", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR11442:SF50", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11442:SF50", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "1SHR", "url": "https://www.rcsb.org/structure/1SHR", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "1SI4", "url": "https://www.rcsb.org/structure/1SI4", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "PF00042", "url": "http://pfam.xfam.org/family/PF00042", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "P02042", "url": "https://pharos.nih.gov/targets/P02042", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR_P02042", "url": "http://purl.obolibrary.org/obo/PR_P02042", "database": "PRO", "categories": [ "Protein" ] }, { "id": "R-HSA-983231", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-983231", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "NP_000510", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000510", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "C9JRG0", "url": "https://www.uniprot.org/uniprot/C9JRG0", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "C9JRG0-1", "url": "https://www.uniprot.org/uniprot/C9JRG0-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "E9PEW8", "url": "https://www.uniprot.org/uniprot/E9PEW8", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "E9PEW8-1", "url": "https://www.uniprot.org/uniprot/E9PEW8-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "E9PFT6", "url": "https://www.uniprot.org/uniprot/E9PFT6", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "E9PFT6-1", "url": "https://www.uniprot.org/uniprot/E9PFT6-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P02042", "url": "https://www.uniprot.org/uniprot/P02042", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P02042-1", "url": "https://www.uniprot.org/uniprot/P02042-1", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MVHLTPEEKTAVNALWGKVNVDAVGGEALGRLLVVYPWTQRFFESFGDLSSPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFSQLSELHCDKLHVDPENFRLLGNVLVCVLARNFGKEFTPQMQAAYQKVVAGVANALAHKYH", "length": 147, "header": "sp|P02042-1|HBD_HUMAN Isoform 1 of Hemoglobin subunit delta OS=Homo sapiens OX=9606 GN=HBD PE=1 SV=2 CANONICAL=P02042-1" }, "isoforms": [ { "isoform_ac": "C9JRG0-1", "url": "", "sequence": { "sequence": "MVHLTPEEKTAVNALWGKVNVDAVGGEALGSSWAMCWCVCWPATLARNSPHKCRLPIRRWWLVWLMPWLTSTIEILDCFLITIRR", "length": 85, "header": "tr|C9JRG0-1|C9JRG0_HUMAN Computationally mapped isoform of Hemoglobin subunit delta OS=Homo sapiens OX=9606 GN=HBD PE=1 SV=1 CANONICAL=P02042-1" }, "locus": { "chromosome": "11", "start_pos": 5234433, "end_pos": 5232930, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000417377.1", "url": "https://www.ensembl.org/id/ENST00000417377.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000414741.1", "url": "https://www.ensembl.org/id/ENSP00000414741.1" } ] } }, { "isoform_ac": "E9PEW8-1", "url": "", "sequence": { "sequence": "MVHLTPEEKTAVNALWGKVNVDAVGGEALGRLLVVYPWTQRFFESFGDLSSPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFSQLSELHCDKLHVDPENF", "length": 104, "header": "tr|E9PEW8-1|HBD_HUMAN Computationally mapped isoform of Hemoglobin subunit delta OS=Homo sapiens OX=9606 GN=HBD PE=1 SV=1 CANONICAL=P02042-1" }, "locus": { "chromosome": "11", "start_pos": 5234433, "end_pos": 5233994, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000429817.1", "url": "https://www.ensembl.org/id/ENST00000429817.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000393810.1", "url": "https://www.ensembl.org/id/ENSP00000393810.1" } ] } }, { "isoform_ac": "E9PFT6-1", "url": "", "sequence": { "sequence": "MVHLTPEEKTAVNALWGKVNVDAVGGEALGRLLVVYPWTQRFFESFGDLSSPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFSQLSELHCDKLHVDPENFRVCKKVPEALQIGSTCLFYKEYMGKEKSKGTVQGING", "length": 141, "header": "tr|E9PFT6-1|HBD_HUMAN Computationally mapped isoform of Hemoglobin subunit delta OS=Homo sapiens OX=9606 GN=HBD PE=1 SV=1 CANONICAL=P02042-1" }, "locus": { "chromosome": "11", "start_pos": 5234433, "end_pos": 5232691, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000292901.7", "url": "https://www.ensembl.org/id/ENST00000292901.7" }, { "database": "Ensembl Peptide", "id": "ENSP00000292901.3", "url": "https://www.ensembl.org/id/ENSP00000292901.3" } ] } }, { "isoform_ac": "P02042-1", "url": "", "sequence": { "sequence": "MVHLTPEEKTAVNALWGKVNVDAVGGEALGRLLVVYPWTQRFFESFGDLSSPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFSQLSELHCDKLHVDPENFRLLGNVLVCVLARNFGKEFTPQMQAAYQKVVAGVANALAHKYH", "length": 147, "header": "sp|P02042-1|HBD_HUMAN Isoform 1 of Hemoglobin subunit delta OS=Homo sapiens OX=9606 GN=HBD PE=1 SV=2 CANONICAL=P02042-1" }, "locus": { "chromosome": "11", "start_pos": 5234433, "end_pos": 5232967, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000650601.1", "url": "https://www.ensembl.org/id/ENST00000650601.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000497529.1", "url": "https://www.ensembl.org/id/ENSP00000497529.1" } ] } } ], "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "", "relation": "attached", "comment": "O-GlcNAcylation", "evidence": [ { "id": "P02042", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P02042" }, { "id": "18984734", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/18984734" } ] } ], "phosphorylation": [ { "start_pos": 146, "end_pos": 146, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Tyr", "comment": "", "evidence": [ { "database": "phospho.ELM", "id": "P02042", "url": "http://phospho.elm.eu.org/byAccession/P02042.html" }, { "database": "iPTMnet", "id": "P02042", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P02042" }, { "database": "PubMed", "id": "18083107", "url": "https://glygen.org/publication/PubMed/18083107" } ], "site_lbl": "Tyr146" }, { "start_pos": 51, "end_pos": 51, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "P02042", "url": "https://www.uniprot.org/uniprot/P02042" }, { "database": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" }, { "database": "iPTMnet", "id": "P02042", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P02042" } ], "site_lbl": "Ser51" } ], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_reported_with_glycan" ], "publication": [ { "title": "Multitasking in signal transduction by a promiscuous human Ins(3,4,5,6)P(4) 1-kinase/Ins(1,3,4)P(3) 5/6-kinase.", "journal": "The Biochemical journal", "date": "2000", "authors": "Yang X, Shears SB", "evidence": [ { "database": "Reactome", "id": "R-HSA-983231", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-983231" } ], "reference": [ { "type": "PubMed", "id": "11042108", "url": "https://glygen.org/publication/PubMed/11042108" } ] }, { "title": "Rabenosyn-5, a novel Rab5 effector, is complexed with hVPS45 and recruited to endosomes through a FYVE finger domain.", "journal": "The Journal of cell biology", "date": "2000", "authors": "Nielsen E, Christoforidis S, Uttenweiler-Joseph S, Miaczynska M, Dewitte F, Wilm M, Hoflack B, Zerial M", "evidence": [ { "database": "Reactome", "id": "R-HSA-983231", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-983231" } ], "reference": [ { "type": "PubMed", "id": "11062261", "url": "https://glygen.org/publication/PubMed/11062261" } ] }, { "title": "Methylation of histone H3 lysine 9 creates a binding site for HP1 proteins.", "journal": "Nature", "date": "2001", "authors": "Lachner M, O'Carroll D, Rea S, Mechtler K, Jenuwein T", "evidence": [ { "database": "Reactome", "id": "R-HSA-983231", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-983231" } ], "reference": [ { "type": "PubMed", "id": "11242053", "url": "https://glygen.org/publication/PubMed/11242053" } ] }, { "title": "Hemoglobin-A2-Coburg or alpha2delta2116Arg leads to His (G18).", "journal": "Biochimica et biophysica acta", "date": "1975", "authors": "Sharma RS, Williams L, Wilson JB, Huisman TH", "evidence": [ { "database": "UniProtKB", "id": "P02042", "url": "https://www.uniprot.org/uniprot/P02042" } ], "reference": [ { "type": "PubMed", "id": "1148221", "url": "https://glygen.org/publication/PubMed/1148221" } ] }, { "title": "RAD51C interacts with RAD51B and is central to a larger protein complex in vivo exclusive of RAD51.", "journal": "The Journal of biological chemistry", "date": "2002", "authors": "Miller KA, Yoshikawa DM, McConnell IR, Clark R, Schild D, Albala JS", "evidence": [ { "database": "Reactome", "id": "R-HSA-983231", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-983231" } ], "reference": [ { "type": "PubMed", "id": "11744692", "url": "https://glygen.org/publication/PubMed/11744692" } ] }, { "title": "Mediator function of the human Rad51B-Rad51C complex in Rad51/RPA-catalyzed DNA strand exchange.", "journal": "Genes & development", "date": "2001", "authors": "Sigurdsson S, Van Komen S, Bussen W, Schild D, Albala JS, Sung P", "evidence": [ { "database": "Reactome", "id": "R-HSA-983231", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-983231" } ], "reference": [ { "type": "PubMed", "id": "11751636", "url": "https://glygen.org/publication/PubMed/11751636" } ] }, { "title": "The human beta-globin locus control region.", "journal": "European journal of biochemistry", "date": "2002", "authors": "Levings PP, Bungert J", "evidence": [ { "database": "Reactome", "id": "R-HSA-983231", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-983231" } ], "reference": [ { "type": "PubMed", "id": "11895428", "url": "https://glygen.org/publication/PubMed/11895428" } ] }, { "title": "Hb A2-Monreale [delta146(HC3)His-->Arg], a novel delta chain variant detected in west Sicily.", "journal": "Hemoglobin", "date": "2002", "authors": "De Angioletti M, Di Girgenti C, Messineo R, Capra M, Carestia C", "evidence": [ { "database": "UniProtKB", "id": "P02042", "url": "https://www.uniprot.org/uniprot/P02042" } ], "reference": [ { "type": "PubMed", "id": "11939506", "url": "https://glygen.org/publication/PubMed/11939506" } ] }, { "title": "Membrane topology and mitochondrial targeting of mitofusins, ubiquitous mammalian homologs of the transmembrane GTPase Fzo.", "journal": "Journal of cell science", "date": "2002", "authors": "Rojo M, Legros F, Chateau D, Lombes A", "evidence": [ { "database": "Reactome", "id": "R-HSA-983231", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-983231" } ], "reference": [ { "type": "PubMed", "id": "11950885", "url": "https://glygen.org/publication/PubMed/11950885" } ] }, { "title": "A core-BRAF35 complex containing histone deacetylase mediates repression of neuronal-specific genes.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2002", "authors": "Hakimi MA, Bochar DA, Chenoweth J, Lane WS, Mandel G, Shiekhattar R", "evidence": [ { "database": "Reactome", "id": "R-HSA-983231", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-983231" } ], "reference": [ { "type": "PubMed", "id": "12032298", "url": "https://glygen.org/publication/PubMed/12032298" } ] }, { "title": "Unconventional Rac-GEF activity is mediated through the Dock180-ELMO complex.", "journal": "Nature cell biology", "date": "2002", "authors": "Brugnera E, Haney L, Grimsley C, Lu M, Walk SF, Tosello-Trampont AC, Macara IG, Madhani H, Fink GR, Ravichandran KS", "evidence": [ { "database": "Reactome", "id": "R-HSA-983231", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-983231" } ], "reference": [ { "type": "PubMed", "id": "12134158", "url": "https://glygen.org/publication/PubMed/12134158" } ] }, { "title": "Epidemiology of the delta globin alleles in southern Italy shows complex molecular, genetic, and phenotypic features.", "journal": "Human mutation", "date": "2002", "authors": "De Angioletti M, Lacerra G, Gaudiano C, Mastrolonardo G, Pagano L, Mastrullo L, Masciandaro S, Carestia C", "evidence": [ { "database": "UniProtKB", "id": "P02042", "url": "https://www.uniprot.org/uniprot/P02042" } ], "reference": [ { "type": "PubMed", "id": "12402333", "url": "https://glygen.org/publication/PubMed/12402333" } ] }, { "title": "Complex formation by the human Rad51B and Rad51C DNA repair proteins and their activities in vitro.", "journal": "The Journal of biological chemistry", "date": "2003", "authors": "Lio YC, Mazin AV, Kowalczykowski SC, Chen DJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-983231", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-983231" } ], "reference": [ { "type": "PubMed", "id": "12427746", "url": "https://glygen.org/publication/PubMed/12427746" } ] }, { "title": "Rabenosyn-5 and EHD1 interact and sequentially regulate protein recycling to the plasma membrane.", "journal": "Molecular biology of the cell", "date": "2004", "authors": "Naslavsky N, Boehm M, Backlund PS Jr, Caplan S", "evidence": [ { "database": "Reactome", "id": "R-HSA-983231", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-983231" } ], "reference": [ { "type": "PubMed", "id": "15020713", "url": "https://glygen.org/publication/PubMed/15020713" } ] }, { "title": "The novel Cdc42 guanine nucleotide exchange factor, zizimin1, dimerizes via the Cdc42-binding CZH2 domain.", "journal": "The Journal of biological chemistry", "date": "2004", "authors": "Meller N, Irani-Tehrani M, Ratnikov BI, Paschal BM, Schwartz MA", "evidence": [ { "database": "Reactome", "id": "R-HSA-983231", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-983231" } ], "reference": [ { "type": "PubMed", "id": "15247287", "url": "https://glygen.org/publication/PubMed/15247287" } ] }, { "title": "Crystal structures of HbA2 and HbE and modeling of hemoglobin delta 4: interpretation of the thermal stability and the antisickling effect of HbA2 and identification of the ferrocyanide binding site in Hb.", "journal": "Biochemistry", "date": "2004", "authors": "Sen U, Dasgupta J, Choudhury D, Datta P, Chakrabarti A, Chakrabarty SB, Chakrabarty A, Dattagupta JK", "evidence": [ { "database": "UniProtKB", "id": "P02042", "url": "https://www.uniprot.org/uniprot/P02042" } ], "reference": [ { "type": "PubMed", "id": "15449937", "url": "https://glygen.org/publication/PubMed/15449937" } ] }, { "title": "Zizimin2: a novel, DOCK180-related Cdc42 guanine nucleotide exchange factor expressed predominantly in lymphocytes.", "journal": "FEBS letters", "date": "2005", "authors": "Nishikimi A, Meller N, Uekawa N, Isobe K, Schwartz MA, Maruyama M", "evidence": [ { "database": "Reactome", "id": "R-HSA-983231", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-983231" } ], "reference": [ { "type": "PubMed", "id": "15710388", "url": "https://glygen.org/publication/PubMed/15710388" } ] }, { "title": "Two new delta-globin mutations: Hb A2-Ninive [delta133(H11)Val-Ala] and a delta(+)-thalassemia mutation [-31 (A --> G)] in the TATA box of the delta-globin gene.", "journal": "Hemoglobin", "date": "2005", "authors": "Frischknecht H, Dutly F", "evidence": [ { "database": "UniProtKB", "id": "P02042", "url": "https://www.uniprot.org/uniprot/P02042" } ], "reference": [ { "type": "PubMed", "id": "15921167", "url": "https://glygen.org/publication/PubMed/15921167" } ] }, { "title": "Mammalian CARMIL inhibits actin filament capping by capping protein.", "journal": "Developmental cell", "date": "2005", "authors": "Yang C, Pring M, Wear MA, Huang M, Cooper JA, Svitkina TM, Zigmond SH", "evidence": [ { "database": "Reactome", "id": "R-HSA-983231", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-983231" } ], "reference": [ { "type": "PubMed", "id": "16054028", "url": "https://glygen.org/publication/PubMed/16054028" } ] }, { "title": "Inducible processing of interferon regulatory factor-2.", "journal": "Molecular and cellular biology", "date": "1992", "authors": "Palombella VJ, Maniatis T", "evidence": [ { "database": "Reactome", "id": "R-HSA-983231", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-983231" } ], "reference": [ { "type": "PubMed", "id": "1630448", "url": "https://glygen.org/publication/PubMed/1630448" } ] }, { "title": "Identification of a new delta chain hemoglobin variant in a beta-thalassemia carrier: Hb A2-mumc [delta13(a10)Ala-->Asp].", "journal": "Hemoglobin", "date": "2005", "authors": "Walker L, Patterson M, Eng B, McFarlane A, Waye JS", "evidence": [ { "database": "UniProtKB", "id": "P02042", "url": "https://www.uniprot.org/uniprot/P02042" } ], "reference": [ { "type": "PubMed", "id": "16370490", "url": "https://glygen.org/publication/PubMed/16370490" } ] }, { "title": "The IVS-II-1 (G-->a) beta0-thalassemia mutation in cis with HbA2-Troodos [delta116(G18)Arg-->Cys (CGC-->TGC)] causes a complex prenatal diagnosis in an Iranian family.", "journal": "Hemoglobin", "date": "2005", "authors": "Eram SM, Azimifar B, Abolghasemi H, Foulady P, Lotfi V, Masrouri M, Hosseini M, Abdolhosseini A, Zeinali S", "evidence": [ { "database": "UniProtKB", "id": "P02042", "url": "https://www.uniprot.org/uniprot/P02042" } ], "reference": [ { "type": "PubMed", "id": "16370491", "url": "https://glygen.org/publication/PubMed/16370491" } ] }, { "title": "Dock4 is regulated by RhoG and promotes Rac-dependent cell migration.", "journal": "Experimental cell research", "date": "2006", "authors": "Hiramoto K, Negishi M, Katoh H", "evidence": [ { "database": "Reactome", "id": "R-HSA-983231", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-983231" } ], "reference": [ { "type": "PubMed", "id": "17027967", "url": "https://glygen.org/publication/PubMed/17027967" } ] }, { "title": "Analysis of delta-globin gene alleles in the Sicilian population: identification of five new mutations.", "journal": "Haematologica", "date": "2006", "authors": "Giambona A, Passarello C, Ruggeri G, Renda D, Teresi P, Anza M, Maggio A", "evidence": [ { "database": "UniProtKB", "id": "P02042", "url": "https://www.uniprot.org/uniprot/P02042" } ], "reference": [ { "type": "PubMed", "id": "17145605", "url": "https://glygen.org/publication/PubMed/17145605" } ] }, { "title": "Dock6, a Dock-C subfamily guanine nucleotide exchanger, has the dual specificity for Rac1 and Cdc42 and regulates neurite outgrowth.", "journal": "Experimental cell research", "date": "2007", "authors": "Miyamoto Y, Yamauchi J, Sanbe A, Tanoue A", "evidence": [ { "database": "Reactome", "id": "R-HSA-983231", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-983231" } ], "reference": [ { "type": "PubMed", "id": "17196961", "url": "https://glygen.org/publication/PubMed/17196961" } ] }, { "title": "Identification of four novel delta-globin gene mutations in Greek Cypriots using polymerase chain reaction and automated fluorescence-based DNA sequence analysis.", "journal": "Blood", "date": "1991", "authors": "Trifillis P, Ioannou P, Schwartz E, Surrey S", "evidence": [ { "database": "UniProtKB", "id": "P02042", "url": "https://www.uniprot.org/uniprot/P02042" } ], "reference": [ { "type": "PubMed", "id": "1742490", "url": "https://glygen.org/publication/PubMed/1742490" } ] }, { "title": "Hb A2-Niigata [delta 1(NA1)Val----Ala]: a new delta chain variant found in the Japanese population.", "journal": "Hemoglobin", "date": "1991", "authors": "Harano T, Harano K, Kushida Y, Ueda S, Kawakami H", "evidence": [ { "database": "UniProtKB", "id": "P02042", "url": "https://www.uniprot.org/uniprot/P02042" } ], "reference": [ { "type": "PubMed", "id": "1787103", "url": "https://glygen.org/publication/PubMed/1787103" } ] }, { "title": "Hb A2-Parkville or delta 47(CD6)Asp----Val, a new delta chain variant.", "journal": "Hemoglobin", "date": "1991", "authors": "Leung H, Gilbert AT, Fleming PJ, Wong J, Hughes WG, Hussein S, Nash AR", "evidence": [ { "database": "UniProtKB", "id": "P02042", "url": "https://www.uniprot.org/uniprot/P02042" } ], "reference": [ { "type": "PubMed", "id": "1802883", "url": "https://glygen.org/publication/PubMed/1802883" } ] }, { "title": "Global survey of phosphotyrosine signaling identifies oncogenic kinases in lung cancer.", "journal": "Cell", "date": "2007", "authors": "Rikova K, Guo A, Zeng Q, Possemato A, Yu J, Haack H, Nardone J, Lee K, Reeves C, Li Y, Hu Y, Tan Z, Stokes M, Sullivan L, Mitchell J, Wetzel R, Macneill J, Ren JM, Yuan J, Bakalarski CE, Villen J, Kornhauser JM, Smith B, Li D, Zhou X, Gygi SP, Gu TL, Polakiewicz RD, Rush J, Comb MJ", "evidence": [ { "database": "iPTMnet", "id": "P02042", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P02042" } ], "reference": [ { "type": "PubMed", "id": "18083107", "url": "https://glygen.org/publication/PubMed/18083107" } ] }, { "title": "Site-specific GlcNAcylation of human erythrocyte proteins: potential biomarker(s) for diabetes.", "journal": "Diabetes", "date": "2009", "authors": "Wang Z, Park K, Comer F, Hsieh-Wilson LC, Saudek CD, Hart GW", "evidence": [ { "database": "O-GlcNAc Database", "id": "P02042", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P02042" } ], "reference": [ { "type": "PubMed", "id": "18984734", "url": "https://glygen.org/publication/PubMed/18984734" } ] }, { "title": "Lnk inhibits myeloproliferative disorder-associated JAK2 mutant, JAK2V617F.", "journal": "Journal of leukocyte biology", "date": "2009", "authors": "Gery S, Cao Q, Gueller S, Xing H, Tefferi A, Koeffler HP", "evidence": [ { "database": "Reactome", "id": "R-HSA-983231", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-983231" } ], "reference": [ { "type": "PubMed", "id": "19293402", "url": "https://glygen.org/publication/PubMed/19293402" } ] }, { "title": "Regulation of mouse steroidogenesis by WHISTLE and JMJD1C through histone methylation balance.", "journal": "Nucleic acids research", "date": "2010", "authors": "Kim SM, Kim JY, Choe NW, Cho IH, Kim JR, Kim DW, Seol JE, Lee SE, Kook H, Nam KI, Kook H, Bhak YY, Seo SB", "evidence": [ { "database": "Reactome", "id": "R-HSA-983231", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-983231" } ], "reference": [ { "type": "PubMed", "id": "20530532", "url": "https://glygen.org/publication/PubMed/20530532" } ] }, { "title": "Regulation of immune cell homeostasis by type I interferons.", "journal": "Cytokine & growth factor reviews", "date": "2010", "authors": "Mattei F, Schiavoni G, Tough DF", "evidence": [ { "database": "Reactome", "id": "R-HSA-983231", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-983231" } ], "reference": [ { "type": "PubMed", "id": "20627800", "url": "https://glygen.org/publication/PubMed/20627800" } ] }, { "title": "A new delta chain variant hemoglobin A2-Corfu or alpha 2 delta 2 116 Arg----Cys (G18), detected by delta-globin gene analysis in a Greek family.", "journal": "Human genetics", "date": "1991", "authors": "Loudianos G, Murru S, Kanavakis E, Metaxotou-Mavromati A, Theodoropoulou D, Kattamis C, Cao A, Pirastu M", "evidence": [ { "database": "UniProtKB", "id": "P02042", "url": "https://www.uniprot.org/uniprot/P02042" } ], "reference": [ { "type": "PubMed", "id": "2066116", "url": "https://glygen.org/publication/PubMed/2066116" } ] }, { "title": "Mitochondrial GTP-AMP phosphotransferase. 2. Kinetic and equilibrium dialysis studies.", "journal": "European journal of biochemistry", "date": "1979", "authors": "Tomasselli AG, Noda LH", "evidence": [ { "database": "Reactome", "id": "R-HSA-983231", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-983231" } ], "reference": [ { "type": "PubMed", "id": "218813", "url": "https://glygen.org/publication/PubMed/218813" } ] }, { "title": "An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.", "journal": "Journal of proteomics", "date": "2014", "authors": "Bian Y, Song C, Cheng K, Dong M, Wang F, Huang J, Sun D, Wang L, Ye M, Zou H", "evidence": [ { "database": "UniProtKB", "id": "P02042", "url": "https://www.uniprot.org/uniprot/P02042" }, { "database": "iPTMnet", "id": "P02042", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P02042" } ], "reference": [ { "type": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" } ] }, { "title": "Hb A2-Wrens or alpha 2 delta 2 98(FG5) Val----Met, an unstable delta chain variant identified by sequence analysis of amplified DNA.", "journal": "Biochimica et biophysica acta", "date": "1989", "authors": "Codrington JF, Kutlar F, Harris HF, Wilson JB, Stoming TA, Huisman TH", "evidence": [ { "database": "UniProtKB", "id": "P02042", "url": "https://www.uniprot.org/uniprot/P02042" } ], "reference": [ { "type": "PubMed", "id": "2477064", "url": "https://glygen.org/publication/PubMed/2477064" } ] }, { "title": "Properties and catalytic activities of MICAL1, the flavoenzyme involved in cytoskeleton dynamics, and modulation by its CH, LIM and C-terminal domains.", "journal": "Archives of biochemistry and biophysics", "date": "2016", "authors": "Vitali T, Maffioli E, Tedeschi G, Vanoni MA", "evidence": [ { "database": "Reactome", "id": "R-HSA-983231", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-983231" } ], "reference": [ { "type": "PubMed", "id": "26845023", "url": "https://glygen.org/publication/PubMed/26845023" } ] }, { "title": "Hemoglobin A2 Honai (alpha 2 delta 2(90)(F6)Glu----Val): a new delta chain variant.", "journal": "Hemoglobin", "date": "1985", "authors": "Fujita S, Ohta Y, Saito S, Kobayashi Y, Naritomi Y, Kawaguchi T, Imamura T, Wada Y, Hayashi A", "evidence": [ { "database": "UniProtKB", "id": "P02042", "url": "https://www.uniprot.org/uniprot/P02042" } ], "reference": [ { "type": "PubMed", "id": "2869009", "url": "https://glygen.org/publication/PubMed/2869009" } ] }, { "title": "Delta-globin gene expression improves sickle cell disease in a humanised mouse model.", "journal": "British journal of haematology", "date": "2021", "authors": "Porcu S, Simbula M, Marongiu MF, Perra A, Poddie D, Perseu L, Kowalik MA, Littera R, Barella S, Caria CA, Demartis FR, Ristaldi MS", "evidence": [ { "database": "RefSeq", "id": "NP_000510", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000510" } ], "reference": [ { "type": "PubMed", "id": "34046885", "url": "https://glygen.org/publication/PubMed/34046885" } ] }, { "title": "Regulated expression of a gene encoding a nuclear factor, IRF-1, that specifically binds to IFN-beta gene regulatory elements.", "journal": "Cell", "date": "1988", "authors": "Miyamoto M, Fujita T, Kimura Y, Maruyama M, Harada H, Sudo Y, Miyata T, Taniguchi T", "evidence": [ { "database": "Reactome", "id": "R-HSA-983231", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-983231" } ], "reference": [ { "type": "PubMed", "id": "3409321", "url": "https://glygen.org/publication/PubMed/3409321" } ] }, { "title": "Analysis of delta-globin gene alleles in Tunisians: description of three new delta-thalassemia mutations.", "journal": "Molecular biology reports", "date": "2021", "authors": "Kasmi C, Amri Y, Hadj-Fredj S, Oueslati S, Dabboussi M, Mahjoub R, Hammami S, Aljane I, Mami FB, Jamoussi H, Messaoud T, Bibi A", "evidence": [ { "database": "RefSeq", "id": "NP_000510", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000510" } ], "reference": [ { "type": "PubMed", "id": "34341901", "url": "https://glygen.org/publication/PubMed/34341901" } ] }, { "title": "Molecular characterization of a novel homozygous deletion in \u03b2-globin cluster causing (\u03b4\u03b2)0-Thalassemia among Tunisian family.", "journal": "Annals of clinical biochemistry", "date": "2022-10-18", "authors": "Kalai Miniar, Moumni Imen, Ouragini Houyem, Ben Fraj Ilhem, Mellouli Fethi, Ouederni Monia, Chaouachi Dorra, Boudriga Imen, Menif Samia", "evidence": [ { "database": "RefSeq", "id": "NP_000510", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000510" } ], "reference": [ { "type": "PubMed", "id": "36214153", "url": "https://glygen.org/publication/PubMed/36214153" } ] }, { "title": "Detecting rare thalassemia in children with anemia using third-generation sequencing.", "journal": "Hematology (Amsterdam, Netherlands)", "date": "2023-12", "authors": "Ren Zhen-Min, Li Wu-Jiao, Xing Zhi-Hao, Fu Xiao-Ying, Zhang Ju-Yan, Chen Yun-Sheng, Li De-Fa", "evidence": [ { "database": "RefSeq", "id": "NP_000510", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000510" } ], "reference": [ { "type": "PubMed", "id": "37548329", "url": "https://glygen.org/publication/PubMed/37548329" } ] }, { "title": "Mutational spectrum of HBD gene in the Chinese population: Description of 36 mutations including 11 novel variants.", "journal": "International journal of laboratory hematology", "date": "2023-08-22", "authors": "Xu Anping, Li Mingyang, Ye Yinghui, Li Liping, Ma Minjing, Wu Shang Ying, Ji Ling", "evidence": [ { "database": "RefSeq", "id": "NP_000510", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000510" } ], "reference": [ { "type": "PubMed", "id": "37605839", "url": "https://glygen.org/publication/PubMed/37605839" } ] }, { "title": "Hb A2 Yokoshima, alpha(2)delta(2)25(B7)Gly----Asp, a new delta chain variant found in a Japanese family.", "journal": "Hemoglobin", "date": "1985", "authors": "Ohba Y, Igarashi M, Tsukahara M, Nakashima M, Sanada C, Ami M, Arai Y, Miyaji T", "evidence": [ { "database": "UniProtKB", "id": "P02042", "url": "https://www.uniprot.org/uniprot/P02042" } ], "reference": [ { "type": "PubMed", "id": "3841531", "url": "https://glygen.org/publication/PubMed/3841531" } ] }, { "title": "A new delta chain variant, haemoglobin-A2-Melbourne or alpha2 delta2 43Glu-Lys(CD2).", "journal": "Biochimica et biophysica acta", "date": "1974", "authors": "Sharma RS, Harding DL, Wong SC, Wilson JB, Gravely ME, Huisman TH", "evidence": [ { "database": "UniProtKB", "id": "P02042", "url": "https://www.uniprot.org/uniprot/P02042" } ], "reference": [ { "type": "PubMed", "id": "4850239", "url": "https://glygen.org/publication/PubMed/4850239" } ] }, { "title": "Hemoglobin A2-Indonesia or alpha 2 delta 2 69(E13) Gly--Arg.", "journal": "Biochimica et biophysica acta", "date": "1971", "authors": "Eng LI, Pribadi W, Westendorp Boerma F, Efremov GD, Wilson JB, Reynolds CA, Huisman TH", "evidence": [ { "database": "UniProtKB", "id": "P02042", "url": "https://www.uniprot.org/uniprot/P02042" } ], "reference": [ { "type": "PubMed", "id": "4995018", "url": "https://glygen.org/publication/PubMed/4995018" } ] }, { "title": "Haemoglobin Babinga (delta 136 glycine-aspartic acid): a new delta chain variant.", "journal": "Nature", "date": "1968", "authors": "de Jong WW, Bernini LF", "evidence": [ { "database": "UniProtKB", "id": "P02042", "url": "https://www.uniprot.org/uniprot/P02042" } ], "reference": [ { "type": "PubMed", "id": "5678016", "url": "https://glygen.org/publication/PubMed/5678016" } ] }, { "title": "Hemoglobin NYU, a delta chain variant, alpha 2 delta 2 lys.", "journal": "The Journal of clinical investigation", "date": "1969", "authors": "Ranney HM, Jacobs AS, Ramot B, Bradley TB Jr", "evidence": [ { "database": "UniProtKB", "id": "P02042", "url": "https://www.uniprot.org/uniprot/P02042" } ], "reference": [ { "type": "PubMed", "id": "5824070", "url": "https://glygen.org/publication/PubMed/5824070" } ] }, { "title": "Haemoglobin A2: alpha-2-delta-2-16 glycine--arginine.", "journal": "Nature", "date": "1966", "authors": "Ball EW, Meynell MJ, Beale D, Kynoch P, Lehmann H, Stretton AO", "evidence": [ { "database": "UniProtKB", "id": "P02042", "url": "https://www.uniprot.org/uniprot/P02042" } ], "reference": [ { "type": "PubMed", "id": "5956309", "url": "https://glygen.org/publication/PubMed/5956309" } ] }, { "title": "HbA2 Victoria delta 24 (B6) Gly----Asp. A new delta chain variant occurring with beta-thalassemia.", "journal": "Hemoglobin", "date": "1984", "authors": "Brennan SO, Williamson D, Smith MB, Cauchi MN, Macphee A, Carrell RW", "evidence": [ { "database": "UniProtKB", "id": "P02042", "url": "https://www.uniprot.org/uniprot/P02042" } ], "reference": [ { "type": "PubMed", "id": "6469695", "url": "https://glygen.org/publication/PubMed/6469695" } ] }, { "title": "Hemoglobin A2 Fitzroy delta 142 Ala----Asp: a new delta-chain variant.", "journal": "Hemoglobin", "date": "1984", "authors": "Williamson D, Brennan SO, Strosberg H, Whitty J, Carrell RW", "evidence": [ { "database": "UniProtKB", "id": "P02042", "url": "https://www.uniprot.org/uniprot/P02042" } ], "reference": [ { "type": "PubMed", "id": "6548205", "url": "https://glygen.org/publication/PubMed/6548205" } ] }, { "title": "Hb A2-Manzanares or alpha 2 delta 2 121 (GH4) Glu replaced by Val, an unstable delta chain variant observed in a Spanish family.", "journal": "Hemoglobin", "date": "1983", "authors": "Romero Garcia C, Navarro JL, Lam H, Webber BB, Headlee MG, Wilson JB, Huisman TH", "evidence": [ { "database": "UniProtKB", "id": "P02042", "url": "https://www.uniprot.org/uniprot/P02042" } ], "reference": [ { "type": "PubMed", "id": "6629825", "url": "https://glygen.org/publication/PubMed/6629825" } ] }, { "title": "Hb A2-Zagreb or alpha 2 delta 2(125)(H3)Gln replaced by Glu, a new delta chain variant in association with delta beta-thalassemia.", "journal": "Hemoglobin", "date": "1983", "authors": "Juricic D, Crepinko I, Efremov GD, Lam H, Webber BB, Headlee MG, Huisman TH", "evidence": [ { "database": "UniProtKB", "id": "P02042", "url": "https://www.uniprot.org/uniprot/P02042" } ], "reference": [ { "type": "PubMed", "id": "6629826", "url": "https://glygen.org/publication/PubMed/6629826" } ] }, { "title": "Hemoglobins, XXIII. Note on the sequence of the delta-chains of human hemoglobin.", "journal": "Hoppe-Seyler's Z. Physiol. Chem.", "date": "1978", "authors": "Braunitzer G, Schrank B, Stangl A, Grillemeier M", "evidence": [ { "database": "UniProtKB", "id": "P02042", "url": "https://www.uniprot.org/uniprot/P02042" } ], "reference": [ { "type": "PubMed", "id": "680638", "url": "https://glygen.org/publication/PubMed/680638" } ] }, { "title": "Hb A2-Canada or alpha 2 delta 2 99(G1) Asp replaced by Asn, a newly discovered delta chain variant with increased oxygen affinity occurring in cis to beta-thalassemia.", "journal": "Hemoglobin", "date": "1982", "authors": "Salkie ML, Gordon PA, Rigal WM, Lam H, Wilson JB, Headlee ME, Huisman TH", "evidence": [ { "database": "UniProtKB", "id": "P02042", "url": "https://www.uniprot.org/uniprot/P02042" } ], "reference": [ { "type": "PubMed", "id": "7129931", "url": "https://glygen.org/publication/PubMed/7129931" } ] }, { "title": "Complete nucleotide sequence of the human delta-globin gene.", "journal": "Cell", "date": "1980", "authors": "Spritz R A, DeRiel J K, Forget B G, Weissman S M", "evidence": [ { "database": "UniProtKB", "id": "P02042", "url": "https://www.uniprot.org/uniprot/P02042" } ], "reference": [ { "type": "PubMed", "id": "7438204", "url": "https://glygen.org/publication/PubMed/7438204" } ] }, { "title": "Hb A2-Sant' Antioco [alpha 2 delta (2)93(F9)Cys-->Gly]: a new delta chain variant identified by sequencing of amplified DNA.", "journal": "Hemoglobin", "date": "1994", "authors": "Galanello R, Gasperini D, Perseu L, Barella S, Ideo A, Cao A", "evidence": [ { "database": "UniProtKB", "id": "P02042", "url": "https://www.uniprot.org/uniprot/P02042" } ], "reference": [ { "type": "PubMed", "id": "7713748", "url": "https://glygen.org/publication/PubMed/7713748" } ] }, { "title": "Hb A2-Grovetown or alpha 2 delta (2)75(E19)Leu-->Val.", "journal": "Hemoglobin", "date": "1993", "authors": "Molchanova TP, Postnikov YV, Gu LH, Huisman TH", "evidence": [ { "database": "UniProtKB", "id": "P02042", "url": "https://www.uniprot.org/uniprot/P02042" } ], "reference": [ { "type": "PubMed", "id": "8330984", "url": "https://glygen.org/publication/PubMed/8330984" } ] }, { "title": "Analysis of delta-globin gene mutations in Greek cypriots.", "journal": "Blood", "date": "1993", "authors": "Trifillis P, Kyrri A, Kalogirou E, Kokkofitou A, Ioannou P, Schwartz E, Surrey S", "evidence": [ { "database": "UniProtKB", "id": "P02042", "url": "https://www.uniprot.org/uniprot/P02042" } ], "reference": [ { "type": "PubMed", "id": "8364213", "url": "https://glygen.org/publication/PubMed/8364213" } ] }, { "title": "A new delta-chain variant hemoglobin A2-Puglia or alpha 2 delta 2 26 Glu-->Asp (B8), detected by DNA analysis in a family of southern Italian origin.", "journal": "Human mutation", "date": "1993", "authors": "Loudianos G, Porcu S, Cossu P, Tannoia N, Vitucci A, Campanale D, Cao A, Pirastu M", "evidence": [ { "database": "UniProtKB", "id": "P02042", "url": "https://www.uniprot.org/uniprot/P02042" } ], "reference": [ { "type": "PubMed", "id": "8401543", "url": "https://glygen.org/publication/PubMed/8401543" } ] }, { "title": "Hb A2-Agrinio [delta 43(CD2)Glu-->Gly(GAG-->GGG)]: a new delta chain variant detected in a Greek family.", "journal": "Hemoglobin", "date": "1995", "authors": "Papadakis M, Drakoulakou O, Papapanagiotou E, Pessini D, Loutradi-Anagnostou A", "evidence": [ { "database": "UniProtKB", "id": "P02042", "url": "https://www.uniprot.org/uniprot/P02042" } ], "reference": [ { "type": "PubMed", "id": "8537235", "url": "https://glygen.org/publication/PubMed/8537235" } ] }, { "title": "Isolation of inositol 1,3,4-trisphosphate 5/6-kinase, cDNA cloning and expression of the recombinant enzyme.", "journal": "The Journal of biological chemistry", "date": "1996", "authors": "Wilson MP, Majerus PW", "evidence": [ { "database": "Reactome", "id": "R-HSA-983231", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-983231" } ], "reference": [ { "type": "PubMed", "id": "8662638", "url": "https://glygen.org/publication/PubMed/8662638" } ] }, { "title": "NF-E2 disrupts chromatin structure at human beta-globin locus control region hypersensitive site 2 in vitro.", "journal": "Molecular and cellular biology", "date": "1996", "authors": "Armstrong JA, Emerson BM", "evidence": [ { "database": "Reactome", "id": "R-HSA-983231", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-983231" } ], "reference": [ { "type": "PubMed", "id": "8816476", "url": "https://glygen.org/publication/PubMed/8816476" } ] }, { "title": "Identification of a novel protein kinase A anchoring protein that binds both type I and type II regulatory subunits.", "journal": "The Journal of biological chemistry", "date": "1997", "authors": "Huang LJ, Durick K, Weiner JA, Chun J, Taylor SS", "evidence": [ { "database": "Reactome", "id": "R-HSA-983231", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-983231" } ], "reference": [ { "type": "PubMed", "id": "9065479", "url": "https://glygen.org/publication/PubMed/9065479" } ] }, { "title": "delta-Thalassemic phenotype due to two `novel` delta-globin gene mutations: CD11[GTC-->GGC (A8)-HbA2-Pylos] and CD 85[TTT-->TCT(F1)-HbA2-Etolia].", "journal": "Human mutation", "date": "1997", "authors": "Drakoulakou O, Papapanagiotou E, Loutradi-Anagnostou A, Papadakis M", "evidence": [ { "database": "UniProtKB", "id": "P02042", "url": "https://www.uniprot.org/uniprot/P02042" } ], "reference": [ { "type": "PubMed", "id": "9101295", "url": "https://glygen.org/publication/PubMed/9101295" } ] }, { "title": "FOG, a multitype zinc finger protein, acts as a cofactor for transcription factor GATA-1 in erythroid and megakaryocytic differentiation.", "journal": "Cell", "date": "1997", "authors": "Tsang AP, Visvader JE, Turner CA, Fujiwara Y, Yu C, Weiss MJ, Crossley M, Orkin SH", "evidence": [ { "database": "Reactome", "id": "R-HSA-983231", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-983231" } ], "reference": [ { "type": "PubMed", "id": "9230307", "url": "https://glygen.org/publication/PubMed/9230307" } ] }, { "title": "D-AKAP2, a novel protein kinase A anchoring protein with a putative RGS domain.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1997", "authors": "Huang LJ, Durick K, Weiner JA, Chun J, Taylor SS", "evidence": [ { "database": "Reactome", "id": "R-HSA-983231", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-983231" } ], "reference": [ { "type": "PubMed", "id": "9326583", "url": "https://glygen.org/publication/PubMed/9326583" } ] }, { "title": "Vertebrates have conserved capping protein alpha isoforms with specific expression patterns.", "journal": "Cell motility and the cytoskeleton", "date": "1997", "authors": "Hart MC, Korshunova YO, Cooper JA", "evidence": [ { "database": "Reactome", "id": "R-HSA-983231", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-983231" } ], "reference": [ { "type": "PubMed", "id": "9331217", "url": "https://glygen.org/publication/PubMed/9331217" } ] }, { "title": "Structure of IRF-1 with bound DNA reveals determinants of interferon regulation.", "journal": "Nature", "date": "1998", "authors": "Escalante CR, Yie J, Thanos D, Aggarwal AK", "evidence": [ { "database": "Reactome", "id": "R-HSA-983231", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-983231" } ], "reference": [ { "type": "PubMed", "id": "9422515", "url": "https://glygen.org/publication/PubMed/9422515" } ] }, { "title": "Hemoglobin A2-Roosevelt: alpha 2 delta 2 20Val replaced by Glu.", "journal": "Biochimica et biophysica acta", "date": "1976", "authors": "Rieder RF, Clegg JB, Weiss HJ, Christy NP, Rabinowitz R", "evidence": [ { "database": "UniProtKB", "id": "P02042", "url": "https://www.uniprot.org/uniprot/P02042" } ], "reference": [ { "type": "PubMed", "id": "952968", "url": "https://glygen.org/publication/PubMed/952968" } ] }, { "title": "FOG-2: A novel GATA-family cofactor related to multitype zinc-finger proteins Friend of GATA-1 and U-shaped.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1999", "authors": "Tevosian SG, Deconinck AE, Cantor AB, Rieff HI, Fujiwara Y, Corfas G, Orkin SH", "evidence": [ { "database": "Reactome", "id": "R-HSA-983231", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-983231" } ], "reference": [ { "type": "PubMed", "id": "9927674", "url": "https://glygen.org/publication/PubMed/9927674" } ] } ], "pathway": [ { "id": "hsa:3045", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:3045", "resource": "KEGG Pathway" }, { "id": "R-HSA-983231", "name": "Factors involved in megakaryocyte development and platelet production", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-983231", "resource": "Reactome", "description": "Factors involved in megakaryocyte development and platelet production" } ], "orthologs": [ { "uniprot_canonical_ac": "A8DUK4-1", "protein_name": "Hemoglobin, beta adult s chain", "gene_name": "Hbb-bs", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MVHLTDAEKAAVSGLWGKVNADEVGGEALGRLLVVYPWTQRYFDSFGDLSSASAIMGNAKVKAHGKKVITAFNDGLNHLDSLKGTFASLSELHCDKLHVDPENFRLLGNMIVIVLGHHLGKDFTPAAQAAFQKVVAGVAAALAHKYH", "length": 147 }, "evidence": [ { "id": "45925524", "url": "http://www.informatics.jax.org/homology/45925524", "database": "MGI" }, { "id": "45925525", "url": "http://www.informatics.jax.org/homology/45925525", "database": "MGI" }, { "id": "P02042", "url": "https://omabrowser.org/oma/group/P02042/", "database": "OMA" } ], "common_name": "Mouse" }, { "uniprot_canonical_ac": "B2RVB7-1", "protein_name": "Globin b2", "gene_name": "Hbb-bh2", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MVELTAEEKAAITATWTKVKAEELGVESLERILTVYPHTKRYFDHFGDFSFCAATEDNHKLKALGKKMIESFSEDLQSLDNLHYTFASLSELHHDKLHMDPENFKLLGSMIVIVMSPHFGNSFTSALQAAFEKVVAAVADAMAYKYY", "length": 147 }, "evidence": [ { "id": "45917222", "url": "http://www.informatics.jax.org/homology/45917222", "database": "MGI" } ], "common_name": "Mouse" }, { "uniprot_canonical_ac": "P02088-1", "protein_name": "Hemoglobin subunit beta-1", "gene_name": "Hbb-b1", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MVHLTDAEKAAVSCLWGKVNSDEVGGEALGRLLVVYPWTQRYFDSFGDLSSASAIMGNAKVKAHGKKVITAFNDGLNHLDSLKGTFASLSELHCDKLHVDPENFRLLGNMIVIVLGHHLGKDFTPAAQAAFQKVVAGVATALAHKYH", "length": 147 }, "evidence": [ { "id": "45925527", "url": "http://www.informatics.jax.org/homology/45925527", "database": "MGI" } ], "common_name": "Mouse" }, { "uniprot_canonical_ac": "P02089-1", "protein_name": "Hemoglobin subunit beta-2", "gene_name": "Hbb-b2", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MVHLTDAEKSAVSCLWAKVNPDEVGGEALGRLLVVYPWTQRYFDSFGDLSSASAIMGNPKVKAHGKKVITAFNEGLKNLDNLKGTFASLSELHCDKLHVDPENFRLLGNAIVIVLGHHLGKDFTPAAQAAFQKVVAGVATALAHKYH", "length": 147 }, "evidence": [ { "id": "45925529", "url": "http://www.informatics.jax.org/homology/45925529", "database": "MGI" } ], "common_name": "Mouse" }, { "uniprot_canonical_ac": "P02091-1", "protein_name": "Hemoglobin subunit beta-1", "gene_name": "Hbb", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "MVHLTDAEKAAVNGLWGKVNPDDVGGEALGRLLVVYPWTQRYFDSFGDLSSASAIMGNPKVKAHGKKVINAFNDGLKHLDNLKGTFAHLSELHCDKLHVDPENFRLLGNMIVIVLGHHLGKEFTPCAQAAFQKVVAGVASALAHKYH", "length": 147 }, "evidence": [ { "id": "45925529", "url": "http://www.informatics.jax.org/homology/45925529", "database": "MGI" }, { "id": "45925524", "url": "http://www.informatics.jax.org/homology/45925524", "database": "MGI" }, { "id": "45925525", "url": "http://www.informatics.jax.org/homology/45925525", "database": "MGI" }, { "id": "45925527", "url": "http://www.informatics.jax.org/homology/45925527", "database": "MGI" } ], "common_name": "Rat" }, { "uniprot_canonical_ac": "P11517-1", "protein_name": "Hemoglobin subunit beta-2", "gene_name": "", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "MVHLTDAEKATVSGLWGKVNADNVGAEALGRLLVVYPWTQRYFSKFGDLSSASAIMGNPQVKAHGKKVINAFNDGLKHLDNLKGTFAHLSELHCDKLHVDPENFRLLGNMIVIVLGHHLGKEFTPCAQAAFQKVVAGVASALAHKYH", "length": 147 }, "evidence": [ { "id": "45925529", "url": "http://www.informatics.jax.org/homology/45925529", "database": "MGI" }, { "id": "45925524", "url": "http://www.informatics.jax.org/homology/45925524", "database": "MGI" }, { "id": "45925525", "url": "http://www.informatics.jax.org/homology/45925525", "database": "MGI" }, { "id": "45925527", "url": "http://www.informatics.jax.org/homology/45925527", "database": "MGI" } ], "common_name": "Rat" }, { "uniprot_canonical_ac": "P68871-1", "protein_name": "Hemoglobin subunit beta", "gene_name": "HBB", "tax_id": 9606, "organism": "Homo sapiens", "sequence": { "sequence": "MVHLTPEEKSAVTALWGKVNVDEVGGEALGRLLVVYPWTQRFFESFGDLSTPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFATLSELHCDKLHVDPENFRLLGNVLVCVLAHHFGKEFTPPVQAAYQKVVAGVANALAHKYH", "length": 147 }, "evidence": [ { "id": "45925529", "url": "http://www.informatics.jax.org/homology/45925529", "database": "MGI" }, { "id": "45925524", "url": "http://www.informatics.jax.org/homology/45925524", "database": "MGI" }, { "id": "45925525", "url": "http://www.informatics.jax.org/homology/45925525", "database": "MGI" }, { "id": "45925527", "url": "http://www.informatics.jax.org/homology/45925527", "database": "MGI" }, { "id": "45917222", "url": "http://www.informatics.jax.org/homology/45917222", "database": "MGI" } ], "common_name": "Human" } ], "go_annotation": { "categories": [ { "name": "Molecular Function", "total": 6, "go_terms": [ { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "P02042", "url": "https://www.uniprot.org/uniprot/P02042" } ], "pmid": "" }, { "name": "heme binding", "id": "GO:0020037", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0020037", "evidence": [ { "database": "UniProtKB", "id": "P02042", "url": "https://www.uniprot.org/uniprot/P02042" } ], "pmid": "" }, { "name": "oxygen binding", "id": "GO:0019825", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019825", "evidence": [ { "database": "UniProtKB", "id": "P02042", "url": "https://www.uniprot.org/uniprot/P02042" } ], "pmid": "" }, { "name": "oxygen carrier activity", "id": "GO:0005344", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005344", "evidence": [ { "database": "UniProtKB", "id": "P02042", "url": "https://www.uniprot.org/uniprot/P02042" } ], "pmid": "" }, { "name": "organic acid binding", "id": "GO:0043177", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043177", "evidence": [ { "database": "UniProtKB", "id": "P02042", "url": "https://www.uniprot.org/uniprot/P02042" } ], "pmid": "" }, { "name": "hemoglobin alpha binding", "id": "GO:0031721", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031721", "evidence": [ { "database": "UniProtKB", "id": "P02042", "url": "https://www.uniprot.org/uniprot/P02042" } ], "pmid": "" } ] }, { "name": "Cellular Component", "total": 5, "go_terms": [ { "name": "hemoglobin complex", "id": "GO:0005833", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005833", "evidence": [ { "database": "UniProtKB", "id": "P02042", "url": "https://www.uniprot.org/uniprot/P02042" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "P02042", "url": "https://www.uniprot.org/uniprot/P02042" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "P02042", "url": "https://www.uniprot.org/uniprot/P02042" } ], "pmid": "" }, { "name": "blood microparticle", "id": "GO:0072562", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072562", "evidence": [ { "database": "UniProtKB", "id": "P02042", "url": "https://www.uniprot.org/uniprot/P02042" } ], "pmid": "" }, { "name": "haptoglobin-hemoglobin complex", "id": "GO:0031838", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031838", "evidence": [ { "database": "UniProtKB", "id": "P02042", "url": "https://www.uniprot.org/uniprot/P02042" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 4, "go_terms": [ { "name": "hydrogen peroxide catabolic process", "id": "GO:0042744", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042744", "evidence": [ { "database": "UniProtKB", "id": "P02042", "url": "https://www.uniprot.org/uniprot/P02042" } ], "pmid": "" }, { "name": "carbon dioxide transport", "id": "GO:0015670", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015670", "evidence": [ { "database": "UniProtKB", "id": "P02042", "url": "https://www.uniprot.org/uniprot/P02042" } ], "pmid": "" }, { "name": "cellular oxidant detoxification", "id": "GO:0098869", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098869", "evidence": [ { "database": "UniProtKB", "id": "P02042", "url": "https://www.uniprot.org/uniprot/P02042" } ], "pmid": "" }, { "name": "oxygen transport", "id": "GO:0015671", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015671", "evidence": [ { "database": "UniProtKB", "id": "P02042", "url": "https://www.uniprot.org/uniprot/P02042" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [], "ptm_annotation": [], "interactions": [], "reactions": [], "reaction_participants": [], "reaction_enzymes": [], "biomarkers": [], "synthesized_glycans": [], "cluster_types": [ { "name": "isoformset.uniprotkb", "label": "Isoforms" }, { "name": "homologset.mgi", "label": "MGI Homologs" }, { "name": "homologset.oma", "label": "OMA Homologs" } ], "sequence_features": { "n_linked_sites": [], "o_linked_sites": [], "snv_sites": [], "glycation_sites": [], "phosphorylation_sites": [ 51, 146 ], "sequon_annotation_sites": [] }, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "o_linked_glycan_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment" ] }, { "table_id": "glycosylation_reported", "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 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "o_linked_glycan_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment" ] }, { "table_id": "glycosylation_predicted", "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 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "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 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 2 }, { "field": "total_sites", "count": 2 } ], "sort_fields": [ "start_pos", "end_pos", "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 73 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }