{ "uniprot_canonical_ac": "P09471-1", "uniprot_ac": "P09471", "uniprot_id": "GNAO_HUMAN", "mass": { "chemical_mass": 40051.0, "monoisotopic_mass": 40051.0 }, "refseq": { "ac": "NP_066268", "name": "guanine nucleotide-binding protein G(o) subunit alpha isoform a", "summary": "The protein encoded by this gene represents the alpha subunit of the Go heterotrimeric G-protein signal-transducing complex. Defects in this gene are a cause of early-onset epileptic encephalopathy. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2015].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_066268" }, "gene_names": [ { "name": "GNAO1", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P09471", "id": "P09471" }, { "name": "DEE17; EIEE17; G-ALPHA-o; GNAO; HG1G; HLA-DQB1; NEDIM", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_066268", "id": "NP_066268" }, { "name": "GNAO1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_066268", "id": "NP_066268" } ], "protein_names": [ { "name": "Guanine nucleotide-binding protein G(o) subunit alpha", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "P09471" }, { "name": "guanine nucleotide-binding protein G(o) subunit alpha isoform a", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_066268", "id": "NP_066268" }, { "name": "guanine nucleotide-binding protein G(o) subunit alpha; guanine nucleotide binding protein (G protein), alpha activating activity polypeptide O; GO2-q chimeric G-protein; guanine nucleotide-binding regulatory protein 2; heterotrimeric guanine nucleotide-binding protein 1G", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_066268", "id": "NP_066268" } ], "function": [ { "annotation": "Clinical Cases and the Molecular Profiling of a Novel Childhood Encephalopathy-Causing GNAO1 Mutation P170R. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_066268", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_066268" }, { "database": "PubMed", "id": "37887313", "url": "https://glygen.org/publication/PubMed/37887313" } ] }, { "annotation": "Dystonic Cerebral Palsy Phenotype Due to GNAO1 Variant Responsive to Levodopa. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_066268", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_066268" }, { "database": "PubMed", "id": "37034444", "url": "https://glygen.org/publication/PubMed/37034444" } ] }, { "annotation": "Genotype-phenotype correlation and treatment effects in young patients with GNAO1-associated disorders.", "evidence": [ { "database": "RefSeq", "id": "NP_066268", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_066268" }, { "database": "PubMed", "id": "37225406", "url": "https://glygen.org/publication/PubMed/37225406" } ] }, { "annotation": "Guanine nucleotide-binding proteins (G proteins) are involved as modulators or transducers in various transmembrane signaling systems. The G(o) protein function is not clear. Stimulated by RGS14.", "evidence": [ { "database": "UniProtKB", "id": "P09471", "url": "https://www.uniprot.org/uniprot/P09471#function" } ] }, { "annotation": "Highlighting the Dystonic Phenotype Related to GNAO1.", "evidence": [ { "database": "RefSeq", "id": "NP_066268", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_066268" }, { "database": "PubMed", "id": "35722775", "url": "https://glygen.org/publication/PubMed/35722775" } ] }, { "annotation": "The protein encoded by this gene represents the alpha subunit of the Go heterotrimeric G-protein signal-transducing complex. Defects in this gene are a cause of early-onset epileptic encephalopathy. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2015].", "evidence": [ { "database": "RefSeq", "id": "NP_066268", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_066268" } ] }, { "annotation": "Visual Function in Children with GNAO1-Related Encephalopathy. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_066268", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_066268" }, { "database": "PubMed", "id": "36980817", "url": "https://glygen.org/publication/PubMed/36980817" } ] } ], "disease": [ { "disease_id": "DOID:0080450", "recommended_name": { "id": "DOID:0080450", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080450", "name": "developmental and epileptic encephalopathy 17", "description": "A developmental and epileptic encephalopathy characterized by onset in the first weeks or months of life of intractable seizures and very poor psychomotor development that has_material_basis_in heterozygous mutation in the GNAO1 gene on chromosome 16q13." }, "synonyms": [ { "id": "DOID:0080450", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080450", "name": "early infantile epileptic encephalopathy 17", "description": "" }, { "id": "DOID:0080450", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080450", "name": "DEE17", "description": "" }, { "id": "MONDO:0014199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014199", "name": "developmental and epileptic encephalopathy, 17", "description": "Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the GNAO1 gene." }, { "id": "MONDO:0014199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014199", "name": "DEE17", "description": "" }, { "id": "MONDO:0014199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014199", "name": "EIEE17", "description": "" }, { "id": "MONDO:0014199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014199", "name": "GNAO1 early infantile epileptic encephalopathy", "description": "" }, { "id": "MONDO:0014199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014199", "name": "developmental and epileptic encephalopathy 17", "description": "" }, { "id": "MONDO:0014199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014199", "name": "early infantile epileptic encephalopathy caused by mutation in GNAO1", "description": "" }, { "id": "MONDO:0014199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014199", "name": "early infantile epileptic encephalopathy-17", "description": "" }, { "id": "MONDO:0014199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014199", "name": "epileptic encephalopathy, early infantile, 17", "description": "" }, { "id": "MONDO:0014199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014199", "name": "epileptic encephalopathy, early infantile, type 17", "description": "" }, { "id": "MONDO:0014199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014199", "name": "GNAO1 encephalopathy", "description": "" }, { "id": "MIM:615473", "resource": "MIM", "url": "https://www.omim.org/entry/615473", "name": "Developmental and epileptic encephalopathy 17", "description": "Developmental and epileptic encephalopathy 17" } ], "evidence": [ { "id": "615473", "database": "MIM", "url": "https://www.omim.org/entry/615473" } ] }, { "disease_id": "DOID:0112276", "recommended_name": { "id": "DOID:0112276", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0112276", "name": "neurodevelopmental disorder with involuntary movements", "description": "A movement disease characterized by delayed psychomotor development and infantile or childhood onset of hyperkinetic involuntary movements, including chorea and athetosis that has_material_basis_in heterozygous mutation of the GNAO1 gene on chromosome 16q13." }, "synonyms": [ { "id": "DOID:0112276", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0112276", "name": "NEDIM", "description": "" }, { "id": "MONDO:0060491", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0060491", "name": "neurodevelopmental disorder with involuntary movements", "description": "" }, { "id": "MONDO:0060491", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0060491", "name": "neurodevelopmental disorder with involuntary movements", "description": "" }, { "id": "MONDO:0060491", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0060491", "name": "NEDIM", "description": "" }, { "id": "MIM:617493", "resource": "MIM", "url": "https://www.omim.org/entry/617493", "name": "Neurodevelopmental disorder with involuntary movements", "description": "Neurodevelopmental disorder with involuntary movements" } ], "evidence": [ { "id": "617493", "database": "MIM", "url": "https://www.omim.org/entry/617493" } ] } ], "snv": [], "mutagenesis": [], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "73.4", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000087258", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000087258" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "71.29", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000087258", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000087258" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "79.58", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000087258", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000087258" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "85.21", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000087258", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000087258" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "85.66", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000087258", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000087258" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "83.93", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000087258", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000087258" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "79.9", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000087258", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000087258" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "82.36", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000087258", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000087258" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "72.37", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000087258", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000087258" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "73.58", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000087258", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000087258" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "87.18", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000087258", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000087258" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "79.53", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000087258", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000087258" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "67.38", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000087258", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000087258" } ] } ], "expression_disease": [ { "significant": "Yes", "trend": "down", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "P09471", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P09471" } ], "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": "P09471", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P09471" } ], "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": "Yes", "trend": "down", "name": "Urinary bladder cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11054", "evidence": [ { "database": "BioXpress", "id": "P09471", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P09471" } ], "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": "Yes", "trend": "up", "name": "Head and neck cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11934", "evidence": [ { "database": "BioXpress", "id": "P09471", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P09471" } ], "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": "up", "name": "Lung cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1324", "evidence": [ { "database": "BioXpress", "id": "P09471", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P09471" } ], "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": "up", "name": "Breast cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1612", "evidence": [ { "database": "BioXpress", "id": "P09471", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P09471" } ], "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": "up", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "P09471", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P09471" } ], "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": "P09471", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P09471" } ], "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": "P09471", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P09471" } ], "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": "P09471", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P09471" } ], "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": "Yes", "trend": "down", "name": "Esophageal cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:5041", "evidence": [ { "database": "BioXpress", "id": "P09471", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P09471" } ], "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": "Yes", "trend": "down", "name": "Colorectal cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:9256", "evidence": [ { "database": "BioXpress", "id": "P09471", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P09471" } ], "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": "P09471", "url": "https://www.uniprot.org/uniprot/P09471" } ], "common_name": "Human" } ], "gene": [ { "name": "GNAO1", "url": "https://www.uniprot.org/uniprot/P09471", "locus": { "chromosome": "16", "start_pos": 56357444, "end_pos": 56191390, "strand": "-", "evidence": [ { "database": "Ensembl Gene", "id": "ENSG00000087258", "url": "https://www.ensembl.org/id/ENSG00000087258" } ] } } ], "crossref": [ { "id": "ENSG00000087258", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000087258", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "cd00066", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd00066", "database": "CDD", "categories": [ "Protein Classification" ] }, { "id": "CHEMBL4742", "url": "https://www.ebi.ac.uk/chembldb/target/inspect/CHEMBL4742", "database": "ChEMBL", "categories": [ "Other" ] }, { "id": "GNAO1", "url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=GNAO1", "database": "GeneCards", "categories": [ "Gene Annotation", "Organism-specific" ] }, { "id": "2775", "url": "https://www.ncbi.nlm.nih.gov/gene/2775", "database": "GeneID", "categories": [ "Genome Annotation" ] }, { "id": "4389", "url": "https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=4389", "database": "HGNC", "categories": [ "Organism-specific" ] }, { "id": "P09471", "url": "https://www.ebi.ac.uk/intact/interactors/id:P09471*", "database": "IntAct", "categories": [ "Other" ] }, { "id": "IPR001019", "url": "https://www.ebi.ac.uk/interpro/entry/IPR001019", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR001408", "url": "https://www.ebi.ac.uk/interpro/entry/IPR001408", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR011025", "url": "https://www.ebi.ac.uk/interpro/entry/IPR011025", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR027417", "url": "https://www.ebi.ac.uk/interpro/entry/IPR027417", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "hsa:2775", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:2775", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "139311", "url": "http://www.omim.org/entry/139311", "database": "MIM", "categories": [ "Other" ] }, { "id": "615473", "url": "http://www.omim.org/entry/615473", "database": "MIM", "categories": [ "Other" ] }, { "id": "617493", "url": "http://www.omim.org/entry/617493", "database": "MIM", "categories": [ "Other" ] }, { "id": "NX_P09471", "url": "https://www.nextprot.org/entry/NX_P09471", "database": "neXtProt", "categories": [ "Protein", "Organism-specific" ] }, { "id": "GHRDKWI", "url": "https://omabrowser.org/oma/group/GHRDKWI/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "2897309at2759", "url": "http://www.orthodb.org/?query=2897309at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR10218", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR10218", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR10218:SF355", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR10218:SF355", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "6FUF", "url": "https://www.rcsb.org/structure/6FUF", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "6G79", "url": "https://www.rcsb.org/structure/6G79", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "6K41", "url": "https://www.rcsb.org/structure/6K41", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "6OIK", "url": "https://www.rcsb.org/structure/6OIK", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "6WWZ", "url": "https://www.rcsb.org/structure/6WWZ", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "7D76", "url": "https://www.rcsb.org/structure/7D76", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "7D77", "url": "https://www.rcsb.org/structure/7D77", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "7EJ0", "url": "https://www.rcsb.org/structure/7EJ0", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "7EJ8", "url": "https://www.rcsb.org/structure/7EJ8", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "7EJA", "url": "https://www.rcsb.org/structure/7EJA", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "7EJK", "url": "https://www.rcsb.org/structure/7EJK", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "7QVM", "url": "https://www.rcsb.org/structure/7QVM", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "7T8X", "url": "https://www.rcsb.org/structure/7T8X", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "7T90", "url": "https://www.rcsb.org/structure/7T90", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "7T94", "url": "https://www.rcsb.org/structure/7T94", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "7T96", "url": "https://www.rcsb.org/structure/7T96", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "7W2Z", "url": "https://www.rcsb.org/structure/7W2Z", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "7W6P", "url": "https://www.rcsb.org/structure/7W6P", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "7W7E", "url": "https://www.rcsb.org/structure/7W7E", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "7XJJ", "url": "https://www.rcsb.org/structure/7XJJ", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "7Y24", "url": "https://www.rcsb.org/structure/7Y24", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "8DZQ", "url": "https://www.rcsb.org/structure/8DZQ", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "8E9X", "url": "https://www.rcsb.org/structure/8E9X", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "8FN1", "url": "https://www.rcsb.org/structure/8FN1", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "PF00503", "url": "http://pfam.xfam.org/family/PF00503", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "P09471", "url": "https://pharos.nih.gov/targets/P09471", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR_P09471", "url": "http://purl.obolibrary.org/obo/PR_P09471", "database": "PRO", "categories": [ "Protein" ] }, { "id": "R-HSA-4086398", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-4086398", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "NP_066268", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_066268", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "A0A087WTB6", "url": "https://www.uniprot.org/uniprot/A0A087WTB6", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A087WTB6-1", "url": "https://www.uniprot.org/uniprot/A0A087WTB6-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A1W2PP38", "url": "https://www.uniprot.org/uniprot/A0A1W2PP38", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A1W2PP38-1", "url": "https://www.uniprot.org/uniprot/A0A1W2PP38-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A1W2PP87", "url": "https://www.uniprot.org/uniprot/A0A1W2PP87", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A1W2PP87-1", "url": "https://www.uniprot.org/uniprot/A0A1W2PP87-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A1W2PPG6", "url": "https://www.uniprot.org/uniprot/A0A1W2PPG6", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A1W2PPG6-1", "url": "https://www.uniprot.org/uniprot/A0A1W2PPG6-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A1W2PQ24", "url": "https://www.uniprot.org/uniprot/A0A1W2PQ24", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A1W2PQ24-1", "url": "https://www.uniprot.org/uniprot/A0A1W2PQ24-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A1W2PQK2", "url": "https://www.uniprot.org/uniprot/A0A1W2PQK2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A1W2PQK2-1", "url": "https://www.uniprot.org/uniprot/A0A1W2PQK2-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A1W2PRE1", "url": "https://www.uniprot.org/uniprot/A0A1W2PRE1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A1W2PRE1-1", "url": "https://www.uniprot.org/uniprot/A0A1W2PRE1-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A1W2PRJ7", "url": "https://www.uniprot.org/uniprot/A0A1W2PRJ7", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A1W2PRJ7-1", "url": "https://www.uniprot.org/uniprot/A0A1W2PRJ7-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A1W2PS82", "url": "https://www.uniprot.org/uniprot/A0A1W2PS82", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A1W2PS82-1", "url": "https://www.uniprot.org/uniprot/A0A1W2PS82-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A6Q8PGR1", "url": "https://www.uniprot.org/uniprot/A0A6Q8PGR1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A6Q8PGR1-1", "url": "https://www.uniprot.org/uniprot/A0A6Q8PGR1-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H3BNR5", "url": "https://www.uniprot.org/uniprot/H3BNR5", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H3BNR5-1", "url": "https://www.uniprot.org/uniprot/H3BNR5-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H3BTM2", "url": "https://www.uniprot.org/uniprot/H3BTM2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H3BTM2-1", "url": "https://www.uniprot.org/uniprot/H3BTM2-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P09471", "url": "https://www.uniprot.org/uniprot/P09471", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P09471-1", "url": "https://www.uniprot.org/uniprot/P09471-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P09471-2", "url": "https://www.uniprot.org/uniprot/P09471-2", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MGCTLSAEERAALERSKAIEKNLKEDGISAAKDVKLLLLGAGESGKSTIVKQMKIIHEDGFSGEDVKQYKPVVYSNTIQSLAAIVRAMDTLGIEYGDKERKADAKMVCDVVSRMEDTEPFSAELLSAMMRLWGDSGIQECFNRSREYQLNDSAKYYLDSLDRIGAADYQPTEQDILRTRVKTTGIVETHFTFKNLHFRLFDVGGQRSERKKWIHCFEDVTAIIFCVALSGYDQVLHEDETTNRMHESLMLFDSICNNKFFIDTSIILFLNKKDLFGEKIKKSPLTICFPEYTGPNTYEDAAAYIQAQFESKNRSPNKEIYCHMTCATDTNNIQVVFDAVTDIIIANNLRGCGLY", "length": 354, "header": "sp|P09471-1|GNAO_HUMAN Isoform 1 of Guanine nucleotide-binding protein G(o) subunit alpha OS=Homo sapiens OX=9606 GN=GNAO1 PE=1 SV=4 CANONICAL=P09471-1" }, "isoforms": [ { "isoform_ac": "A0A087WTB6-1", "url": "", "sequence": { "sequence": "MGCTLSAEERAALERSKAIEKNLKEDGISAAKDVKLLLLGAGESGKSTIVKQMKYPLSFYSVPSTILSVVTEQDTQNLCPPGVF", "length": 84, "header": "tr|A0A087WTB6-1|A0A087WTB6_HUMAN Computationally mapped isoform of Guanine nucleotide-binding protein G(o) subunit alpha OS=Homo sapiens OX=9606 GN=GNAO1 PE=1 SV=2 CANONICAL=P09471-1" }, "locus": { "chromosome": "16", "start_pos": 56213362, "end_pos": 56192236, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000570235.2", "url": "https://www.ensembl.org/id/ENST00000570235.2" }, { "database": "Ensembl Peptide", "id": "ENSP00000477740.2", "url": "https://www.ensembl.org/id/ENSP00000477740.2" } ] } }, { "isoform_ac": "A0A1W2PP38-1", "url": "", "sequence": { "sequence": "XLDRIGAADYQPTEQDILRTRVKTTGIVETHFTFKNLHFRLFDVGGQRSERKKWIHCFEDVTAIIFCVALSGYDQVLHEDETTNRMHESLMLFDSICNNKFFIDTSIILFLNKKDLFGEKIKKSPLTICFPEYTGPNTYEDAAAYIQAQFESKNRSPNKEIYCHMTCATDTNNIQVVFDAVTDIIIANNLRGCGLY", "length": 196, "header": "tr|A0A1W2PP38-1|A0A1W2PP38_HUMAN Computationally mapped isoform of Guanine nucleotide-binding protein G(o) subunit alpha OS=Homo sapiens OX=9606 GN=GNAO1 PE=1 SV=1 CANONICAL=P09471-1" }, "locus": { "chromosome": "16", "start_pos": 56355051, "end_pos": 56334740, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000639341.1", "url": "https://www.ensembl.org/id/ENST00000639341.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000491137.1", "url": "https://www.ensembl.org/id/ENSP00000491137.1" } ] } }, { "isoform_ac": "A0A1W2PP87-1", "url": "", "sequence": { "sequence": "XSLAAIVRAMDTLGIEYGDKERKADAKMVCDVVSRMEDTEPFSAELLSAMMRLWGDSGIQECFNRSREYQLNDSAK", "length": 76, "header": "tr|A0A1W2PP87-1|A0A1W2PP87_HUMAN Computationally mapped isoform of Guanine nucleotide-binding protein G(o) subunit alpha OS=Homo sapiens OX=9606 GN=GNAO1 PE=1 SV=1 CANONICAL=P09471-1" }, "locus": { "chromosome": "16", "start_pos": 56328791, "end_pos": 56276006, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000639268.1", "url": "https://www.ensembl.org/id/ENST00000639268.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000491391.1", "url": "https://www.ensembl.org/id/ENSP00000491391.1" } ] } }, { "isoform_ac": "A0A1W2PPG6-1", "url": "", "sequence": { "sequence": "XGQRSERKKWIHCFEDVTAIIFCVALSGYDQVLHEDETTAPIPMKTQPPTSKHNLKAKTAHPTKKYIVT", "length": 69, "header": "tr|A0A1W2PPG6-1|A0A1W2PPG6_HUMAN Computationally mapped isoform of Guanine nucleotide-binding protein G(o) subunit alpha OS=Homo sapiens OX=9606 GN=GNAO1 PE=4 SV=1 CANONICAL=P09471-1" }, "locus": { "chromosome": "16", "start_pos": 56354957, "end_pos": 56336746, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000568375.2", "url": "https://www.ensembl.org/id/ENST00000568375.2" }, { "database": "Ensembl Peptide", "id": "ENSP00000491143.1", "url": "https://www.ensembl.org/id/ENSP00000491143.1" } ] } }, { "isoform_ac": "A0A1W2PQ24-1", "url": "", "sequence": { "sequence": "IHCFEDVTAIIFCVALSGYDQVLHEDETTNRMHESLMLFDSICNNKFFIDTSIILFLNKKDLFGEKIKKSPLTICFPEYTGPNTYEDAAAYIQAQFESKNRSPNKEIYCHMTCATDTNNIQVVFDAVTDIIIANNLRGCGLY", "length": 142, "header": "tr|A0A1W2PQ24-1|GNAO_HUMAN Computationally mapped isoform of Guanine nucleotide-binding protein G(o) subunit alpha OS=Homo sapiens OX=9606 GN=GNAO1 PE=1 SV=1 CANONICAL=P09471-1" }, "locus": { "chromosome": "16", "start_pos": 56355050, "end_pos": 56336774, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000640469.1", "url": "https://www.ensembl.org/id/ENST00000640469.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000491875.1", "url": "https://www.ensembl.org/id/ENSP00000491875.1" } ] } }, { "isoform_ac": "A0A1W2PQK2-1", "url": "", "sequence": { "sequence": "ALERSKAIEKNLKEDGISAAKDVKLLLLGAGESGKSTIVKQMKQYVLSVWKLLRFCVHLEV", "length": 61, "header": "tr|A0A1W2PQK2-1|A0A1W2PQK2_HUMAN Computationally mapped isoform of Guanine nucleotide-binding protein G(o) subunit alpha OS=Homo sapiens OX=9606 GN=GNAO1 PE=1 SV=1 CANONICAL=P09471-1" }, "locus": { "chromosome": "16", "start_pos": 56255575, "end_pos": 56192269, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000639770.1", "url": "https://www.ensembl.org/id/ENST00000639770.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000491999.1", "url": "https://www.ensembl.org/id/ENSP00000491999.1" } ] } }, { "isoform_ac": "A0A1W2PRE1-1", "url": "", "sequence": { "sequence": "MGCTLSAEERAALERSKAIEKNLKEDGISAAKDVKLLLLGAGESGKSTIVKQMK", "length": 54, "header": "tr|A0A1W2PRE1-1|A0A1W2PRE1_HUMAN Computationally mapped isoform of Guanine nucleotide-binding protein G(o) subunit alpha OS=Homo sapiens OX=9606 GN=GNAO1 PE=1 SV=1 CANONICAL=P09471-1" }, "locus": { "chromosome": "16", "start_pos": 56192617, "end_pos": 56192236, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000569295.6", "url": "https://www.ensembl.org/id/ENST00000569295.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000492271.1", "url": "https://www.ensembl.org/id/ENSP00000492271.1" } ] } }, { "isoform_ac": "A0A1W2PRJ7-1", "url": "", "sequence": { "sequence": "MGCTLSAEERAALERSKAIEKNLKEDGISAAKDVKLLLLGAGESGKSTIVKQMKIIHEDGFSGEDVKQYKPVVYSNTIQSLAAIVRAMDTLGIEYGDKERKVGP", "length": 104, "header": "tr|A0A1W2PRJ7-1|A0A1W2PRJ7_HUMAN Computationally mapped isoform of Guanine nucleotide-binding protein G(o) subunit alpha OS=Homo sapiens OX=9606 GN=GNAO1 PE=1 SV=1 CANONICAL=P09471-1" }, "locus": { "chromosome": "16", "start_pos": 56276081, "end_pos": 56192236, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000563661.2", "url": "https://www.ensembl.org/id/ENST00000563661.2" }, { "database": "Ensembl Peptide", "id": "ENSP00000492694.1", "url": "https://www.ensembl.org/id/ENSP00000492694.1" } ] } }, { "isoform_ac": "A0A1W2PS82-1", "url": "", "sequence": { "sequence": "MGCTLSAEERAALERSKAIEKNLKEDGISAAKDVKLLLLGAGESGKSTIVKQMKIIHEDGFSGEDVKQYKPVVYSNTIQSLAAIVRAMDTLGIEYGDKERKLPGQPGSDWGRRLPAHRAGHPPNQGQNHWHRRNPLHIQEPPLQAV", "length": 146, "header": "tr|A0A1W2PS82-1|A0A1W2PS82_HUMAN Computationally mapped isoform of Guanine nucleotide-binding protein G(o) subunit alpha OS=Homo sapiens OX=9606 GN=GNAO1 PE=1 SV=1 CANONICAL=P09471-1" }, "locus": { "chromosome": "16", "start_pos": 56336736, "end_pos": 56192236, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000640893.1", "url": "https://www.ensembl.org/id/ENST00000640893.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000492677.1", "url": "https://www.ensembl.org/id/ENSP00000492677.1" } ] } }, { "isoform_ac": "A0A6Q8PGR1-1", "url": "", "sequence": { "sequence": "MGCTLSAEERAALERSKAIEKNLKEDGISAAKDVKLLLLGAGESGKSTIVKQMNPSGSLNKVLRHLSSAKDTYSLTRQRCLATTHNSQGAVRRGGSSMAYKAHAPLKAGD", "length": 110, "header": "tr|A0A6Q8PGR1-1|A0A6Q8PGR1_HUMAN Computationally mapped isoform of Guanine nucleotide-binding protein G(o) subunit alpha OS=Homo sapiens OX=9606 GN=GNAO1 PE=1 SV=1 CANONICAL=P09471-1" }, "locus": { "chromosome": "16", "start_pos": 56235181, "end_pos": 56192236, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000675160.1", "url": "https://www.ensembl.org/id/ENST00000675160.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000502403.1", "url": "https://www.ensembl.org/id/ENSP00000502403.1" } ] } }, { "isoform_ac": "H3BNR5-1", "url": "", "sequence": { "sequence": "QVLHEDETTNRMHESLMLFDSICNNKFFIDTSIILFLNKKDLFGEKIKKSPLTICFPEYTGPNTYEDAAAYIQAQFESKNRSPNKEIYCHMTCATDTNNIQTASRTLCC", "length": 109, "header": "tr|H3BNR5-1|H3BNR5_HUMAN Computationally mapped isoform of Guanine nucleotide-binding protein G(o) subunit alpha OS=Homo sapiens OX=9606 GN=GNAO1 PE=1 SV=2 CANONICAL=P09471-1" }, "locus": { "chromosome": "16", "start_pos": 56356126, "end_pos": 56336834, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000564727.2", "url": "https://www.ensembl.org/id/ENST00000564727.2" }, { "database": "Ensembl Peptide", "id": "ENSP00000454971.2", "url": "https://www.ensembl.org/id/ENSP00000454971.2" } ] } }, { "isoform_ac": "H3BTM2-1", "url": "", "sequence": { "sequence": "SRMEDTEPFSAELLSAMMRLWGDSGIQECFNRSREYQLNDSAKYYLDSLDRIGAADYQPTEQDILRTRVKTTGIVETHFTFKNLHFRLFDVGGQRSERKKWIHCFEDVTAIIFCVALSGYDQVLHEDETTNRMHESLMLFDSICNNKFFIDTSIILFLNKKDLFGEKIKKSPLTICFPEYTDCFTDSLLLTLISW", "length": 195, "header": "tr|H3BTM2-1|GNAO_HUMAN Computationally mapped isoform of Guanine nucleotide-binding protein G(o) subunit alpha OS=Homo sapiens OX=9606 GN=GNAO1 PE=1 SV=2 CANONICAL=P09471-1" }, "locus": { "chromosome": "16", "start_pos": 56356143, "end_pos": 56328661, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000562316.6", "url": "https://www.ensembl.org/id/ENST00000562316.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000457238.2", "url": "https://www.ensembl.org/id/ENSP00000457238.2" } ] } }, { "isoform_ac": "P09471-1", "url": "", "sequence": { "sequence": "MGCTLSAEERAALERSKAIEKNLKEDGISAAKDVKLLLLGAGESGKSTIVKQMKIIHEDGFSGEDVKQYKPVVYSNTIQSLAAIVRAMDTLGIEYGDKERKADAKMVCDVVSRMEDTEPFSAELLSAMMRLWGDSGIQECFNRSREYQLNDSAKYYLDSLDRIGAADYQPTEQDILRTRVKTTGIVETHFTFKNLHFRLFDVGGQRSERKKWIHCFEDVTAIIFCVALSGYDQVLHEDETTNRMHESLMLFDSICNNKFFIDTSIILFLNKKDLFGEKIKKSPLTICFPEYTGPNTYEDAAAYIQAQFESKNRSPNKEIYCHMTCATDTNNIQVVFDAVTDIIIANNLRGCGLY", "length": 354, "header": "sp|P09471-1|GNAO_HUMAN Isoform 1 of Guanine nucleotide-binding protein G(o) subunit alpha OS=Homo sapiens OX=9606 GN=GNAO1 PE=1 SV=4 CANONICAL=P09471-1" }, "locus": { "chromosome": "16", "start_pos": 56355050, "end_pos": 56192236, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000638705.1", "url": "https://www.ensembl.org/id/ENST00000638705.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000491223.1", "url": "https://www.ensembl.org/id/ENSP00000491223.1" } ] } }, { "isoform_ac": "P09471-2", "url": "", "sequence": { "sequence": "MGCTLSAEERAALERSKAIEKNLKEDGISAAKDVKLLLLGAGESGKSTIVKQMKIIHEDGFSGEDVKQYKPVVYSNTIQSLAAIVRAMDTLGIEYGDKERKADAKMVCDVVSRMEDTEPFSAELLSAMMRLWGDSGIQECFNRSREYQLNDSAKYYLDSLDRIGAADYQPTEQDILRTRVKTTGIVETHFTFKNLHFRLFDVGGQRSERKKWIHCFEDVTAIIFCVALSGYDQVLHEDETTNRMHESLKLFDSICNNKWFTDTSIILFLNKKDIFEEKIKKSPLTICFPEYTGPSAFTEAVAYIQAQYESKNKSAHKEIYTHVTCATDTNNIQFVFDAVTDVIIAKNLRGCGLY", "length": 354, "header": "sp|P09471-2|GNAO_HUMAN Isoform 2 of Guanine nucleotide-binding protein G(o) subunit alpha OS=Homo sapiens OX=9606 GN=GNAO1 PE=1 SV=4 CANONICAL=P09471-1" }, "locus": { "chromosome": "16", "start_pos": 56343947, "end_pos": 56192236, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000262494.13", "url": "https://www.ensembl.org/id/ENST00000262494.13" }, { "database": "Ensembl Peptide", "id": "ENSP00000262494.7", "url": "https://www.ensembl.org/id/ENSP00000262494.7" } ] } } ], "glycosylation": [], "phosphorylation": [], "glycation": [], "keywords": [], "publication": [ { "title": "Identification and expression of GO1 and 2 alpha-subunit transcripts in human myometrium in relation to pregnancy.", "journal": "Biol. Reprod.", "date": "1999", "authors": "Duc-Goiran P, Bourgeois C, Mignot T M, Robert B, Tanguy G, Ferr\u00e9 F", "evidence": [ { "database": "UniProtKB", "id": "P09471", "url": "https://www.uniprot.org/uniprot/P09471" } ], "reference": [ { "type": "PubMed", "id": "10330115", "url": "https://glygen.org/publication/PubMed/10330115" } ] }, { "title": "WRM-1 activates the LIT-1 protein kinase to transduce anterior/posterior polarity signals in C. elegans.", "journal": "Cell", "date": "1999", "authors": "Rocheleau CE, Yasuda J, Shin TH, Lin R, Sawa H, Okano H, Priess JR, Davis RJ, Mello CC", "evidence": [ { "database": "Reactome", "id": "R-HSA-4086398", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-4086398" } ], "reference": [ { "type": "PubMed", "id": "10380924", "url": "https://glygen.org/publication/PubMed/10380924" } ] }, { "title": "MAP kinase and Wnt pathways converge to downregulate an HMG-domain repressor in Caenorhabditis elegans.", "journal": "Nature", "date": "1999", "authors": "Meneghini MD, Ishitani T, Carter JC, Hisamoto N, Ninomiya-Tsuji J, Thorpe CJ, Hamill DR, Matsumoto K, Bowerman B", "evidence": [ { "database": "Reactome", "id": "R-HSA-4086398", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-4086398" } ], "reference": [ { "type": "PubMed", "id": "10391246", "url": "https://glygen.org/publication/PubMed/10391246" } ] }, { "title": "The TAK1-NLK-MAPK-related pathway antagonizes signalling between beta-catenin and transcription factor TCF.", "journal": "Nature", "date": "1999", "authors": "Ishitani T, Ninomiya-Tsuji J, Nagai S, Nishita M, Meneghini M, Barker N, Waterman M, Bowerman B, Clevers H, Shibuya H, Matsumoto K", "evidence": [ { "database": "Reactome", "id": "R-HSA-4086398", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-4086398" } ], "reference": [ { "type": "PubMed", "id": "10391247", "url": "https://glygen.org/publication/PubMed/10391247" } ] }, { "title": "Protein kinase C is differentially stimulated by Wnt and Frizzled homologs in a G-protein-dependent manner.", "journal": "Current biology : CB", "date": "1999", "authors": "Sheldahl LC, Park M, Malbon CC, Moon RT", "evidence": [ { "database": "Reactome", "id": "R-HSA-4086398", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-4086398" } ], "reference": [ { "type": "PubMed", "id": "10395542", "url": "https://glygen.org/publication/PubMed/10395542" } ] }, { "title": "MOM-4, a MAP kinase kinase kinase-related protein, activates WRM-1/LIT-1 kinase to transduce anterior/posterior polarity signals in C. elegans.", "journal": "Molecular cell", "date": "1999", "authors": "Shin TH, Yasuda J, Rocheleau CE, Lin R, Soto M, Bei Y, Davis RJ, Mello CC", "evidence": [ { "database": "Reactome", "id": "R-HSA-4086398", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-4086398" } ], "reference": [ { "type": "PubMed", "id": "10488343", "url": "https://glygen.org/publication/PubMed/10488343" } ] }, { "title": "Activation of a frizzled-2/beta-adrenergic receptor chimera promotes Wnt signaling and differentiation of mouse F9 teratocarcinoma cells via Galphao and Galphat.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1999", "authors": "Liu X, Liu T, Slusarski DC, Yang-Snyder J, Malbon CC, Moon RT, Wang H", "evidence": [ { "database": "Reactome", "id": "R-HSA-4086398", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-4086398" } ], "reference": [ { "type": "PubMed", "id": "10588714", "url": "https://glygen.org/publication/PubMed/10588714" } ] }, { "title": "Ca(2+)/calmodulin-dependent protein kinase II is stimulated by Wnt and Frizzled homologs and promotes ventral cell fates in Xenopus.", "journal": "The Journal of biological chemistry", "date": "2000", "authors": "Kuhl M, Sheldahl LC, Malbon CC, Moon RT", "evidence": [ { "database": "Reactome", "id": "R-HSA-4086398", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-4086398" } ], "reference": [ { "type": "PubMed", "id": "10777564", "url": "https://glygen.org/publication/PubMed/10777564" } ] }, { "title": "The Wnt/Ca2+ pathway: a new vertebrate Wnt signaling pathway takes shape.", "journal": "Trends in genetics : TIG", "date": "2000", "authors": "Kuhl M, Sheldahl LC, Park M, Miller JR, Moon RT", "evidence": [ { "database": "Reactome", "id": "R-HSA-4086398", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-4086398" } ], "reference": [ { "type": "PubMed", "id": "10858654", "url": "https://glygen.org/publication/PubMed/10858654" } ] }, { "title": "Structure, function, and control of phosphoinositide-specific phospholipase C.", "journal": "Physiological reviews", "date": "2000", "authors": "Rebecchi MJ, Pentyala SN", "evidence": [ { "database": "Reactome", "id": "R-HSA-4086398", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-4086398" } ], "reference": [ { "type": "PubMed", "id": "11015615", "url": "https://glygen.org/publication/PubMed/11015615" } ] }, { "title": "Concerted dephosphorylation of the transcription factor NFAT1 induces a conformational switch that regulates transcriptional activity.", "journal": "Molecular cell", "date": "2000", "authors": "Okamura H, Aramburu J, Garcia-Rodriguez C, Viola JP, Raghavan A, Tahiliani M, Zhang X, Qin J, Hogan PG, Rao A", "evidence": [ { "database": "Reactome", "id": "R-HSA-4086398", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-4086398" } ], "reference": [ { "type": "PubMed", "id": "11030334", "url": "https://glygen.org/publication/PubMed/11030334" } ] }, { "title": "Wnt signaling and heterotrimeric G-proteins: strange bedfellows or a classic romance?", "journal": "Biochemical and biophysical research communications", "date": "2001", "authors": "Malbon CC, Wang H, Moon RT", "evidence": [ { "database": "Reactome", "id": "R-HSA-4086398", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-4086398" } ], "reference": [ { "type": "PubMed", "id": "11563835", "url": "https://glygen.org/publication/PubMed/11563835" } ] }, { "title": "The Wnt/calcium pathway activates NF-AT and promotes ventral cell fate in Xenopus embryos.", "journal": "Nature", "date": "2002", "authors": "Saneyoshi T, Kume S, Amasaki Y, Mikoshiba K", "evidence": [ { "database": "Reactome", "id": "R-HSA-4086398", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-4086398" } ], "reference": [ { "type": "PubMed", "id": "12015605", "url": "https://glygen.org/publication/PubMed/12015605" } ] }, { "title": "Wnt5a signaling directly affects cell motility and invasion of metastatic melanoma.", "journal": "Cancer cell", "date": "2002", "authors": "Weeraratna AT, Jiang Y, Hostetter G, Rosenblatt K, Duray P, Bittner M, Trent JM", "evidence": [ { "database": "Reactome", "id": "R-HSA-4086398", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-4086398" } ], "reference": [ { "type": "PubMed", "id": "12086864", "url": "https://glygen.org/publication/PubMed/12086864" } ] }, { "title": "Signaling of rat Frizzled-2 through phosphodiesterase and cyclic GMP.", "journal": "Science (New York, N.Y.)", "date": "2002", "authors": "Ahumada A, Slusarski DC, Liu X, Moon RT, Malbon CC, Wang HY", "evidence": [ { "database": "Reactome", "id": "R-HSA-4086398", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-4086398" } ], "reference": [ { "type": "PubMed", "id": "12471263", "url": "https://glygen.org/publication/PubMed/12471263" } ] }, { "title": "The TAK1-NLK mitogen-activated protein kinase cascade functions in the Wnt-5a/Ca(2+) pathway to antagonize Wnt/beta-catenin signaling.", "journal": "Molecular and cellular biology", "date": "2003", "authors": "Ishitani T, Kishida S, Hyodo-Miura J, Ueno N, Yasuda J, Waterman M, Shibuya H, Moon RT, Ninomiya-Tsuji J, Matsumoto K", "evidence": [ { "database": "Reactome", "id": "R-HSA-4086398", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-4086398" } ], "reference": [ { "type": "PubMed", "id": "12482967", "url": "https://glygen.org/publication/PubMed/12482967" } ] }, { "title": "Regulation of lymphoid enhancer factor 1/T-cell factor by mitogen-activated protein kinase-related Nemo-like kinase-dependent phosphorylation in Wnt/beta-catenin signaling.", "journal": "Molecular and cellular biology", "date": "2003", "authors": "Ishitani T, Ninomiya-Tsuji J, Matsumoto K", "evidence": [ { "database": "Reactome", "id": "R-HSA-4086398", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-4086398" } ], "reference": [ { "type": "PubMed", "id": "12556497", "url": "https://glygen.org/publication/PubMed/12556497" } ] }, { "title": "Activation of Gbetagamma signaling downstream of Wnt-11/Xfz7 regulates Cdc42 activity during Xenopus gastrulation.", "journal": "Developmental biology", "date": "2003", "authors": "Penzo-Mendez A, Umbhauer M, Djiane A, Boucaut JC, Riou JF", "evidence": [ { "database": "Reactome", "id": "R-HSA-4086398", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-4086398" } ], "reference": [ { "type": "PubMed", "id": "12729560", "url": "https://glygen.org/publication/PubMed/12729560" } ] }, { "title": "Transcriptional regulation by calcium, calcineurin, and NFAT.", "journal": "Genes & development", "date": "2003", "authors": "Hogan PG, Chen L, Nardone J, Rao A", "evidence": [ { "database": "Reactome", "id": "R-HSA-4086398", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-4086398" } ], "reference": [ { "type": "PubMed", "id": "12975316", "url": "https://glygen.org/publication/PubMed/12975316" } ] }, { "title": "Wnt-frizzled signaling to G-protein-coupled effectors.", "journal": "Cellular and molecular life sciences : CMLS", "date": "2004", "authors": "Wang HY, Malbon CC", "evidence": [ { "database": "Reactome", "id": "R-HSA-4086398", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-4086398" } ], "reference": [ { "type": "PubMed", "id": "14704854", "url": "https://glygen.org/publication/PubMed/14704854" } ] }, { "title": "Frizzleds: new members of the superfamily of G-protein-coupled receptors.", "journal": "Frontiers in bioscience : a journal and virtual library", "date": "2004", "authors": "Malbon CC", "evidence": [ { "database": "Reactome", "id": "R-HSA-4086398", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-4086398" } ], "reference": [ { "type": "PubMed", "id": "14977528", "url": "https://glygen.org/publication/PubMed/14977528" } ] }, { "title": "PDE6 is an effector for the Wnt/Ca2+/cGMP-signalling pathway in development.", "journal": "Biochemical Society transactions", "date": "2004", "authors": "Wang H, Lee Y, Malbon CC", "evidence": [ { "database": "Reactome", "id": "R-HSA-4086398", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-4086398" } ], "reference": [ { "type": "PubMed", "id": "15494017", "url": "https://glygen.org/publication/PubMed/15494017" } ] }, { "title": "The biology of cyclic GMP-dependent protein kinases.", "journal": "The Journal of biological chemistry", "date": "2005", "authors": "Hofmann F", "evidence": [ { "database": "Reactome", "id": "R-HSA-4086398", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-4086398" } ], "reference": [ { "type": "PubMed", "id": "15545263", "url": "https://glygen.org/publication/PubMed/15545263" } ] }, { "title": "Regulatory interactions between the amino terminus of G-protein betagamma subunits and the catalytic domain of phospholipase Cbeta2.", "journal": "The Journal of biological chemistry", "date": "2005", "authors": "Bonacci TM, Ghosh M, Malik S, Smrcka AV", "evidence": [ { "database": "Reactome", "id": "R-HSA-4086398", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-4086398" } ], "reference": [ { "type": "PubMed", "id": "15611108", "url": "https://glygen.org/publication/PubMed/15611108" } ] }, { "title": "Wnt-5a/Ca2+-induced NFAT activity is counteracted by Wnt-5a/Yes-Cdc42-casein kinase 1alpha signaling in human mammary epithelial cells.", "journal": "Molecular and cellular biology", "date": "2006", "authors": "Dejmek J, Safholm A, Kamp Nielsen C, Andersson T, Leandersson K", "evidence": [ { "database": "Reactome", "id": "R-HSA-4086398", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-4086398" } ], "reference": [ { "type": "PubMed", "id": "16880514", "url": "https://glygen.org/publication/PubMed/16880514" } ] }, { "title": "Suppression of cyclic GMP-dependent protein kinase is essential to the Wnt/cGMP/Ca2+ pathway.", "journal": "The Journal of biological chemistry", "date": "2006", "authors": "Ma L, Wang HY", "evidence": [ { "database": "Reactome", "id": "R-HSA-4086398", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-4086398" } ], "reference": [ { "type": "PubMed", "id": "16920709", "url": "https://glygen.org/publication/PubMed/16920709" } ] }, { "title": "The Wnt5A/protein kinase C pathway mediates motility in melanoma cells via the inhibition of metastasis suppressors and initiation of an epithelial to mesenchymal transition.", "journal": "The Journal of biological chemistry", "date": "2007", "authors": "Dissanayake SK, Wade M, Johnson CE, O'Connell MP, Leotlela PD, French AD, Shah KV, Hewitt KJ, Rosenthal DT, Indig FE, Jiang Y, Nickoloff BJ, Taub DD, Trent JM, Moon RT, Bittner M, Weeraratna AT", "evidence": [ { "database": "Reactome", "id": "R-HSA-4086398", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-4086398" } ], "reference": [ { "type": "PubMed", "id": "17426020", "url": "https://glygen.org/publication/PubMed/17426020" } ] }, { "title": "Mitogen-activated protein kinase p38 regulates the Wnt/cyclic GMP/Ca2+ non-canonical pathway.", "journal": "The Journal of biological chemistry", "date": "2007", "authors": "Ma L, Wang HY", "evidence": [ { "database": "Reactome", "id": "R-HSA-4086398", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-4086398" } ], "reference": [ { "type": "PubMed", "id": "17684012", "url": "https://glygen.org/publication/PubMed/17684012" } ] }, { "title": "Signal transducing membrane complexes of photoreceptor outer segments.", "journal": "Vision research", "date": "2008", "authors": "Wensel TG", "evidence": [ { "database": "Reactome", "id": "R-HSA-4086398", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-4086398" } ], "reference": [ { "type": "PubMed", "id": "18456304", "url": "https://glygen.org/publication/PubMed/18456304" } ] }, { "title": "G protein betagamma subunits: central mediators of G protein-coupled receptor signaling.", "journal": "Cellular and molecular life sciences : CMLS", "date": "2008", "authors": "Smrcka AV", "evidence": [ { "database": "Reactome", "id": "R-HSA-4086398", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-4086398" } ], "reference": [ { "type": "PubMed", "id": "18488142", "url": "https://glygen.org/publication/PubMed/18488142" } ] }, { "title": "Structure of the human gene and two rat cDNAs encoding the alpha chain of GTP-binding regulatory protein Go: two different mRNAs are generated by alternative splicing.", "journal": "Proc. Natl. Acad. Sci. U.S.A.", "date": "1991", "authors": "Tsukamoto T, Toyama R, Itoh H, Kozasa T, Matsuoka M, Kaziro Y", "evidence": [ { "database": "UniProtKB", "id": "P09471", "url": "https://www.uniprot.org/uniprot/P09471" } ], "reference": [ { "type": "PubMed", "id": "1901650", "url": "https://glygen.org/publication/PubMed/1901650" } ] }, { "title": "Wnt5A activates the calpain-mediated cleavage of filamin A.", "journal": "The Journal of investigative dermatology", "date": "2009", "authors": "O'Connell MP, Fiori JL, Baugher KM, Indig FE, French AD, Camilli TC, Frank BP, Earley R, Hoek KS, Hasskamp JH, Elias EG, Taub DD, Bernier M, Weeraratna AT", "evidence": [ { "database": "Reactome", "id": "R-HSA-4086398", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-4086398" } ], "reference": [ { "type": "PubMed", "id": "19177143", "url": "https://glygen.org/publication/PubMed/19177143" } ] }, { "title": "Proximal events in Wnt signal transduction.", "journal": "Nature reviews. Molecular cell biology", "date": "2009", "authors": "Angers S, Moon RT", "evidence": [ { "database": "Reactome", "id": "R-HSA-4086398", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-4086398" } ], "reference": [ { "type": "PubMed", "id": "19536106", "url": "https://glygen.org/publication/PubMed/19536106" } ] }, { "title": "NFAT proteins: emerging roles in cancer progression.", "journal": "Nature reviews. Cancer", "date": "2009", "authors": "Mancini M, Toker A", "evidence": [ { "database": "Reactome", "id": "R-HSA-4086398", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-4086398" } ], "reference": [ { "type": "PubMed", "id": "19851316", "url": "https://glygen.org/publication/PubMed/19851316" } ] }, { "title": "cGMP-phosphodiesterase 6, transducin and Wnt5a/Frizzled-2-signaling control cGMP and Ca(2+) homeostasis in melanoma cells.", "journal": "Cellular and molecular life sciences : CMLS", "date": "2010", "authors": "Bazhin AV, Tambor V, Dikov B, Philippov PP, Schadendorf D, Eichmuller SB", "evidence": [ { "database": "Reactome", "id": "R-HSA-4086398", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-4086398" } ], "reference": [ { "type": "PubMed", "id": "19946729", "url": "https://glygen.org/publication/PubMed/19946729" } ] }, { "title": "Homodimerization of Nemo-like kinase is essential for activation and nuclear localization.", "journal": "Molecular biology of the cell", "date": "2011", "authors": "Ishitani S, Inaba K, Matsumoto K, Ishitani T", "evidence": [ { "database": "Reactome", "id": "R-HSA-4086398", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-4086398" } ], "reference": [ { "type": "PubMed", "id": "21118996", "url": "https://glygen.org/publication/PubMed/21118996" } ] }, { "title": "Wnt/Ca2+ signaling pathway: a brief overview.", "journal": "Acta biochimica et biophysica Sinica", "date": "2011", "authors": "De A", "evidence": [ { "database": "Reactome", "id": "R-HSA-4086398", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-4086398" } ], "reference": [ { "type": "PubMed", "id": "21903638", "url": "https://glygen.org/publication/PubMed/21903638" } ] }, { "title": "TAK1, more than just innate immunity.", "journal": "IUBMB life", "date": "2012", "authors": "Dai L, Aye Thu C, Liu XY, Xi J, Cheung PC", "evidence": [ { "database": "Reactome", "id": "R-HSA-4086398", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-4086398" } ], "reference": [ { "type": "PubMed", "id": "22941947", "url": "https://glygen.org/publication/PubMed/22941947" } ] }, { "title": "The complex world of WNT receptor signalling.", "journal": "Nature reviews. Molecular cell biology", "date": "2012", "authors": "Niehrs C", "evidence": [ { "database": "Reactome", "id": "R-HSA-4086398", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-4086398" } ], "reference": [ { "type": "PubMed", "id": "23151663", "url": "https://glygen.org/publication/PubMed/23151663" } ] }, { "title": "The way Wnt works: components and mechanism.", "journal": "Growth factors (Chur, Switzerland)", "date": "2013", "authors": "Saito-Diaz K, Chen TW, Wang X, Thorne CA, Wallace HA, Page-McCaw A, Lee E", "evidence": [ { "database": "Reactome", "id": "R-HSA-4086398", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-4086398" } ], "reference": [ { "type": "PubMed", "id": "23256519", "url": "https://glygen.org/publication/PubMed/23256519" } ] }, { "title": "miR-92b controls glioma proliferation and invasion through regulating Wnt/beta-catenin signaling via Nemo-like kinase.", "journal": "Neuro-oncology", "date": "2013", "authors": "Wang K, Wang X, Zou J, Zhang A, Wan Y, Pu P, Song Z, Qian C, Chen Y, Yang S, Wang Y", "evidence": [ { "database": "Reactome", "id": "R-HSA-4086398", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-4086398" } ], "reference": [ { "type": "PubMed", "id": "23416699", "url": "https://glygen.org/publication/PubMed/23416699" } ] }, { "title": "Structural studies on the regulation of Ca2+/calmodulin dependent protein kinase II.", "journal": "Current opinion in structural biology", "date": "2013", "authors": "Stratton MM, Chao LH, Schulman H, Kuriyan J", "evidence": [ { "database": "Reactome", "id": "R-HSA-4086398", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-4086398" } ], "reference": [ { "type": "PubMed", "id": "23632248", "url": "https://glygen.org/publication/PubMed/23632248" } ] }, { "title": "Nemo-like kinase (NLK) inhibits the progression of NSCLC via negatively modulating WNT signaling pathway.", "journal": "Journal of cellular biochemistry", "date": "2014", "authors": "Lv L, Wan C, Chen B, Li M, Liu Y, Ni T, Yang Y, Liu Y, Cong X, Mao G, Xue Q", "evidence": [ { "database": "Reactome", "id": "R-HSA-4086398", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-4086398" } ], "reference": [ { "type": "PubMed", "id": "23904219", "url": "https://glygen.org/publication/PubMed/23904219" } ] }, { "title": "De Novo mutations in GNAO1, encoding a Galphao subunit of heterotrimeric G proteins, cause epileptic encephalopathy.", "journal": "American journal of human genetics", "date": "2013", "authors": "Nakamura K, Kodera H, Akita T, Shiina M, Kato M, Hoshino H, Terashima H, Osaka H, Nakamura S, Tohyama J, Kumada T, Furukawa T, Iwata S, Shiihara T, Kubota M, Miyatake S, Koshimizu E, Nishiyama K, Nakashima M, Tsurusaki Y, Miyake N, Hayasaka K, Ogata K, Fukuda A, Matsumoto N, Saitsu H", "evidence": [ { "database": "UniProtKB", "id": "P09471", "url": "https://www.uniprot.org/uniprot/P09471" } ], "reference": [ { "type": "PubMed", "id": "23993195", "url": "https://glygen.org/publication/PubMed/23993195" } ] }, { "title": "Global profiling of co- and post-translationally N-myristoylated proteomes in human cells.", "journal": "Nat. Commun.", "date": "2014", "authors": "Thinon E, Serwa RA, Broncel M, Brannigan JA, Brassat U, Wright MH, Heal WP, Wilkinson AJ, Mann DJ, Tate EW", "evidence": [ { "database": "UniProtKB", "id": "P09471", "url": "https://www.uniprot.org/uniprot/P09471" } ], "reference": [ { "type": "PubMed", "id": "25255805", "url": "https://glygen.org/publication/PubMed/25255805" } ] }, { "title": "Phenotypic spectrum of GNAO1 variants: epileptic encephalopathy to involuntary movements with severe developmental delay.", "journal": "European journal of human genetics : EJHG", "date": "2016", "authors": "Saitsu H, Fukai R, Ben-Zeev B, Sakai Y, Mimaki M, Okamoto N, Suzuki Y, Monden Y, Saito H, Tziperman B, Torio M, Akamine S, Takahashi N, Osaka H, Yamagata T, Nakamura K, Tsurusaki Y, Nakashima M, Miyake N, Shiina M, Ogata K, Matsumoto N", "evidence": [ { "database": "UniProtKB", "id": "P09471", "url": "https://www.uniprot.org/uniprot/P09471" } ], "reference": [ { "type": "PubMed", "id": "25966631", "url": "https://glygen.org/publication/PubMed/25966631" } ] }, { "title": "Progressive Movement Disorder in Brothers Carrying a GNAO1 Mutation Responsive to Deep Brain Stimulation.", "journal": "Journal of child neurology", "date": "2016", "authors": "Kulkarni N, Tang S, Bhardwaj R, Bernes S, Grebe TA", "evidence": [ { "database": "UniProtKB", "id": "P09471", "url": "https://www.uniprot.org/uniprot/P09471" } ], "reference": [ { "type": "PubMed", "id": "26060304", "url": "https://glygen.org/publication/PubMed/26060304" } ] }, { "title": "Clinical whole-exome sequencing reveals a novel missense pathogenic variant of GNAO1 in a patient with infantile-onset epilepsy.", "journal": "Clinica chimica acta; international journal of clinical chemistry", "date": "2015", "authors": "Law CY, Chang ST, Cho SY, Yau EK, Ng GS, Fong NC, Lam CW", "evidence": [ { "database": "UniProtKB", "id": "P09471", "url": "https://www.uniprot.org/uniprot/P09471" } ], "reference": [ { "type": "PubMed", "id": "26485252", "url": "https://glygen.org/publication/PubMed/26485252" } ] }, { "title": "K-Ras Promotes Tumorigenicity through Suppression of Non-canonical Wnt Signaling.", "journal": "Cell", "date": "2015", "authors": "Wang MT, Holderfield M, Galeas J, Delrosario R, To MD, Balmain A, McCormick F", "evidence": [ { "database": "Reactome", "id": "R-HSA-4086398", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-4086398" } ], "reference": [ { "type": "PubMed", "id": "26590425", "url": "https://glygen.org/publication/PubMed/26590425" } ] }, { "title": "Clinical Course of Six Children With GNAO1 Mutations Causing a Severe and Distinctive Movement Disorder.", "journal": "Pediatric neurology", "date": "2016", "authors": "Ananth AL, Robichaux-Viehoever A, Kim YM, Hanson-Kahn A, Cox R, Enns GM, Strober J, Willing M, Schlaggar BL, Wu YW, Bernstein JA", "evidence": [ { "database": "UniProtKB", "id": "P09471", "url": "https://www.uniprot.org/uniprot/P09471" } ], "reference": [ { "type": "PubMed", "id": "27068059", "url": "https://glygen.org/publication/PubMed/27068059" } ] }, { "title": "De Novo Mutations in SLC1A2 and CACNA1A Are Important Causes of Epileptic Encephalopathies.", "journal": "American journal of human genetics", "date": "2016", "authors": "Myers CT, McMahon JM, Schneider AL, Petrovski S, Allen AS, Carvill GL, Zemel M, Saykally JE, LaCroix AJ, Heinzen EL, Hollingsworth G, Nikanorova M, Corbett M, Gecz J, Coman D, Freeman J, Calvert S, Gill D, Carney P, Lerman-Sagie T, Sampaio H, Cossette P, Delanty N, Dlugos D, Eichler EE, Epstein MP, Glauser T, Johnson MR, Kuzniecky R, Marson AG, O'Brien TJ, Ottman R, Petrou S, Poduri A, Pickrell WO, Chung SK, Rees MI, Sherr E, Sadleir LG, Goldstein DB, Lowenstein DH, Moller RS, Berkovic SF, Scheffer IE, Mefford HC", "evidence": [ { "database": "UniProtKB", "id": "P09471", "url": "https://www.uniprot.org/uniprot/P09471" } ], "reference": [ { "type": "PubMed", "id": "27476654", "url": "https://glygen.org/publication/PubMed/27476654" } ] }, { "title": "Recurrent GNAO1 Mutations Associated With Developmental Delay and a Movement Disorder.", "journal": "Journal of child neurology", "date": "2016", "authors": "Menke LA, Engelen M, Alders M, Odekerken VJ, Baas F, Cobben JM", "evidence": [ { "database": "UniProtKB", "id": "P09471", "url": "https://www.uniprot.org/uniprot/P09471" } ], "reference": [ { "type": "PubMed", "id": "27625011", "url": "https://glygen.org/publication/PubMed/27625011" } ] }, { "title": "Diagnostic Targeted Resequencing in 349 Patients with Drug-Resistant Pediatric Epilepsies Identifies Causative Mutations in 30 Different Genes.", "journal": "Human mutation", "date": "2017", "authors": "Parrini E, Marini C, Mei D, Galuppi A, Cellini E, Pucatti D, Chiti L, Rutigliano D, Bianchini C, Virdo S, De Vita D, Bigoni S, Barba C, Mari F, Montomoli M, Pisano T, Rosati A, Guerrini R", "evidence": [ { "database": "UniProtKB", "id": "P09471", "url": "https://www.uniprot.org/uniprot/P09471" } ], "reference": [ { "type": "PubMed", "id": "27864847", "url": "https://glygen.org/publication/PubMed/27864847" } ] }, { "title": "GNAO1 encephalopathy: Broadening the phenotype and evaluating treatment and outcome.", "journal": "Neurology. Genetics", "date": "2017", "authors": "Danti FR, Galosi S, Romani M, Montomoli M, Carss KJ, Raymond FL, Parrini E, Bianchini C, McShane T, Dale RC, Mohammad SS, Shah U, Mahant N, Ng J, McTague A, Samanta R, Vadlamani G, Valente EM, Leuzzi V, Kurian MA, Guerrini R", "evidence": [ { "database": "UniProtKB", "id": "P09471", "url": "https://www.uniprot.org/uniprot/P09471" } ], "reference": [ { "type": "PubMed", "id": "28357411", "url": "https://glygen.org/publication/PubMed/28357411" } ] }, { "title": "Purification and characterization of membrane-bound phospholipase C specific for phosphoinositides from human platelets.", "journal": "The Journal of biological chemistry", "date": "1988", "authors": "Banno Y, Yada Y, Nozawa Y", "evidence": [ { "database": "Reactome", "id": "R-HSA-4086398", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-4086398" } ], "reference": [ { "type": "PubMed", "id": "2841328", "url": "https://glygen.org/publication/PubMed/2841328" } ] }, { "title": "Efficient strategy for the molecular diagnosis of intractable early-onset epilepsy using targeted gene sequencing.", "journal": "BMC medical genomics", "date": "2018", "authors": "Rim JH, Kim SH, Hwang IS, Kwon SS, Kim J, Kim HW, Cho MJ, Ko A, Youn SE, Kim J, Lee YM, Chung HJ, Lee JS, Kim HD, Choi JR, Lee ST, Kang HC", "evidence": [ { "database": "UniProtKB", "id": "P09471", "url": "https://www.uniprot.org/uniprot/P09471" } ], "reference": [ { "type": "PubMed", "id": "29390993", "url": "https://glygen.org/publication/PubMed/29390993" } ] }, { "title": "Molecular cloning and DNA sequence analysis of the human guanine nucleotide-binding protein Go alpha.", "journal": "Biochem. Biophys. Res. Commun.", "date": "1988", "authors": "Lavu S, Clark J, Swarup R, Matsushima K, Paturu K, Moss J, Kung H F", "evidence": [ { "database": "UniProtKB", "id": "P09471", "url": "https://www.uniprot.org/uniprot/P09471" } ], "reference": [ { "type": "PubMed", "id": "3124840", "url": "https://glygen.org/publication/PubMed/3124840" } ] }, { "title": "Pediatric Encephalopathy: Clinical, Biochemical and Cellular Insights into the Role of Gln52 of GNAO1 and GNAI1 for the Dominant Disease.", "journal": "Cells", "date": "2021", "authors": "Solis GP, Kozhanova TV, Koval A, Zhilina SS, Mescheryakova TI, Abramov AA, Ishmuratov EV, Bolshakova ES, Osipova KV, Ayvazyan SO, Lebon S, Kanivets IV, Pyankov DV, Troccaz S, Silachev DN, Zavadenko NN, Prityko AG, Katanaev VL", "evidence": [ { "database": "UniProtKB", "id": "P09471", "url": "https://www.uniprot.org/uniprot/P09471" } ], "reference": [ { "type": "PubMed", "id": "34685729", "url": "https://glygen.org/publication/PubMed/34685729" } ] }, { "title": "Highlighting the Dystonic Phenotype Related to GNAO1.", "journal": "Movement disorders : official journal of the Movement Disorder Society", "date": "2022", "authors": "Wirth T, Garone G, Kurian MA, Piton A, Millan F, Telegrafi A, Drouot N, Rudolf G, Chelly J, Marks W, Burglen L, Demailly D, Coubes P, Castro-Jimenez M, Joriot S, Ghoumid J, Belin J, Faucheux JM, Blumkin L, Hull M, Parnes M, Ravelli C, Poulen G, Calmels N, Nemeth AH, Smith M, Barnicoat A, Ewenczyk C, Meneret A, Roze E, Keren B, Mignot C, Beroud C, Acosta F Jr, Nowak C, Wilson WG, Steel D, Capuano A, Vidailhet M, Lin JP, Tranchant C, Cif L, Doummar D, Anheim M", "evidence": [ { "database": "RefSeq", "id": "NP_066268", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_066268" } ], "reference": [ { "type": "PubMed", "id": "35722775", "url": "https://glygen.org/publication/PubMed/35722775" } ] }, { "title": "Visual Function in Children with GNAO1-Related Encephalopathy.", "journal": "Genes", "date": "2023-02-22", "authors": "Gambardella Maria Luigia, Pede Elisa, Orazi Lorenzo, Leone Simona, Quintiliani Michela, Amorelli Giulia Maria, Petrianni Maria, Galanti Marta, Amore Filippo, Musto Elisa, Perulli Marco, Contaldo Ilaria, Veredice Chiara, Mercuri Eugenio Maria, Battaglia Domenica Immacolata, Ricci Daniela", "evidence": [ { "database": "RefSeq", "id": "NP_066268", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_066268" } ], "reference": [ { "type": "PubMed", "id": "36980817", "url": "https://glygen.org/publication/PubMed/36980817" } ] }, { "title": "Dystonic Cerebral Palsy Phenotype Due to GNAO1 Variant Responsive to Levodopa.", "journal": "Tremor and other hyperkinetic movements (New York, N.Y.)", "date": "2023", "authors": "Vasconcellos Luiz Felipe, Soares Vinicius Pinheiro, de Ricchezza Lucas Leroux", "evidence": [ { "database": "RefSeq", "id": "NP_066268", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_066268" } ], "reference": [ { "type": "PubMed", "id": "37034444", "url": "https://glygen.org/publication/PubMed/37034444" } ] }, { "title": "Genotype-phenotype correlation and treatment effects in young patients with GNAO1-associated disorders.", "journal": "Journal of neurology, neurosurgery, and psychiatry", "date": "2023-10", "authors": "Thiel Moritz, Bamborschke Daniel, Janzarik Wibke G, Assmann Birgit, Zittel Simone, Patzer Steffi, Auhuber Andrea, Opp Joachim, Matzker Eva, Bevot Andrea, Seeger Juergen, van Baalen Andreas, St\u00fcve Burkhard, Brockmann Knut, Cirak Sebahattin, Koy Anne", "evidence": [ { "database": "RefSeq", "id": "NP_066268", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_066268" } ], "reference": [ { "type": "PubMed", "id": "37225406", "url": "https://glygen.org/publication/PubMed/37225406" } ] }, { "title": "Clinical Cases and the Molecular Profiling of a Novel Childhood Encephalopathy-Causing GNAO1 Mutation P170R.", "journal": "Cells", "date": "2023-10-17", "authors": "Larasati Yonika A, Solis Gonzalo P, Koval Alexey, Griffiths Silja T, Berentsen Ragnhild, Aukrust Ingvild, Lesca Gaetan, Chatron Nicolas, Ville Doroth\u00e9e, Korff Christian M, Katanaev Vladimir L", "evidence": [ { "database": "RefSeq", "id": "NP_066268", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_066268" } ], "reference": [ { "type": "PubMed", "id": "37887313", "url": "https://glygen.org/publication/PubMed/37887313" } ] }, { "title": "Modulation of embryonic intracellular Ca2+ signaling by Wnt-5A.", "journal": "Developmental biology", "date": "1997", "authors": "Slusarski DC, Yang-Snyder J, Busa WB, Moon RT", "evidence": [ { "database": "Reactome", "id": "R-HSA-4086398", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-4086398" } ], "reference": [ { "type": "PubMed", "id": "9073455", "url": "https://glygen.org/publication/PubMed/9073455" } ] }, { "title": "Interaction of Wnt and a Frizzled homologue triggers G-protein-linked phosphatidylinositol signalling.", "journal": "Nature", "date": "1997", "authors": "Slusarski DC, Corces VG, Moon RT", "evidence": [ { "database": "Reactome", "id": "R-HSA-4086398", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-4086398" } ], "reference": [ { "type": "PubMed", "id": "9389482", "url": "https://glygen.org/publication/PubMed/9389482" } ] } ], "pathway": [ { "id": "hsa:2775", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:2775", "resource": "KEGG Pathway" }, { "id": "R-HSA-4086398", "name": "Ca2+ pathway", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-4086398", "resource": "Reactome", "description": "Ca2+ pathway" } ], "orthologs": [ { "uniprot_canonical_ac": "P16378-1", "protein_name": "G protein alpha o subunit", "gene_name": "Galphao", "tax_id": 7227, "organism": "Drosophila melanogaster", "sequence": { "sequence": "MGCAQSAEERAAAARSRLIERNLKEDGIQAAKDIKLLLLGAGESGKSTIVKQMKIIHESGFTAEDFKQYRPVVYSNTIQSLVAILRAMPTLSIQYSNNERESDAKMVFDVCQRMHDTEPFSEELLAAMKRLWQDAGVQECFSRSNEYQLNDSAKYFLDDLDRLGAKDYQPTEQDILRTRVKTTGIVEVHFSFKNLNFKLFDVGGQRSERKKWIHCFEDVTAIIFCVAMSEYDQVLHEDETTNRMQESLKLFDSICNNKWFTDTSIILFLNKKDLFEEKIRKSPLTICFPEYTGGQEYGEAAAYIQAQFEAKNKSTSKEIYCHMTCATDTNNIQFVFDAVTDVIIANNLRGCGLY", "length": 354 }, "evidence": [ { "id": "P09471", "url": "https://omabrowser.org/oma/group/P09471/", "database": "OMA" } ], "common_name": "Fruit fly" }, { "uniprot_canonical_ac": "P18872-1", "protein_name": "Guanine nucleotide-binding protein G(o) subunit alpha", "gene_name": "Gnao1", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MGCTLSAEERAALERSKAIEKNLKEDGISAAKDVKLLLLGAGESGKSTIVKQMKIIHEDGFSGEDVKQYKPVVYSNTIQSLAAIVRAMDTLGVEYGDKERKTDSKMVCDVVSRMEDTEPFSAELLSAMMRLWGDSGIQECFNRSREYQLNDSAKYYLDSLDRIGAGDYQPTEQDILRTRVKTTGIVETHFTFKNLHFRLFDVGGQRSERKKWIHCFEDVTAIIFCVALSGYDQVLHEDETTNRMHESLMLFDSICNNKFFIDTSIILFLNKKDLFGEKIKKSPLTICFPEYPGSNTYEDAAAYIQTQFESKNRSPNKEIYCHMTCATDTNNIQVVFDAVTDIIIANNLRGCGLY", "length": 354 }, "evidence": [ { "id": "45920964", "url": "http://www.informatics.jax.org/homology/45920964", "database": "MGI" } ], "common_name": "Mouse" }, { "uniprot_canonical_ac": "P59215-1", "protein_name": "Guanine nucleotide-binding protein G(o) subunit alpha", "gene_name": "Gnao1", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "MGCTLSAEERAALERSKAIEKNLKEDGISAAKDVKLLLLGAGESGKSTIVKQMKIIHEDGFSGEDVKQYKPVVYSNTIQSLAAIVRAMDTLGVEYGDKERKADSKMVCDVVSRMEDTEPFSAELLSAMMRLWGDSGIQECFNRSREYQLNDSAKYYLDSLDRIGAADYQPTEQDILRTRVKTTGIVETHFTFKNLHFRLFDVGGQRSERKKWIHCFEDVTAIIFCVALSGYDQVLHEDETTNRMHESLMLFDSICNNKFFIDTSIILFLNKKDLFGEKIKKSPLTICFPEYPGSNTYEDAAAYIQTQFESKNRSPNKEIYCHMTCATDTNNIQVVFDAVTDIIIANNLRGCGLY", "length": 354 }, "evidence": [ { "id": "45920964", "url": "http://www.informatics.jax.org/homology/45920964", "database": "MGI" } ], "common_name": "Rat" } ], "go_annotation": { "categories": [ { "name": "Molecular Function", "total": 8, "go_terms": [ { "name": "GTPase activity", "id": "GO:0003924", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003924", "evidence": [ { "database": "UniProtKB", "id": "P09471", "url": "https://www.uniprot.org/uniprot/P09471" } ], "pmid": "" }, { "name": "G-protein beta/gamma-subunit complex binding", "id": "GO:0031683", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031683", "evidence": [ { "database": "UniProtKB", "id": "P09471", "url": "https://www.uniprot.org/uniprot/P09471" } ], "pmid": "" }, { "name": "guanyl nucleotide binding", "id": "GO:0019001", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019001", "evidence": [ { "database": "UniProtKB", "id": "P09471", "url": "https://www.uniprot.org/uniprot/P09471" } ], "pmid": "" }, { "name": "GTP binding", "id": "GO:0005525", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005525", "evidence": [ { "database": "UniProtKB", "id": "P09471", "url": "https://www.uniprot.org/uniprot/P09471" } ], "pmid": "" }, { "name": "G protein-coupled serotonin receptor binding", "id": "GO:0031821", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031821", "evidence": [ { "database": "UniProtKB", "id": "P09471", "url": "https://www.uniprot.org/uniprot/P09471" } ], "pmid": "" }, { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "P09471", "url": "https://www.uniprot.org/uniprot/P09471" } ], "pmid": "" }, { "name": "corticotropin-releasing hormone receptor 1 binding", "id": "GO:0051430", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051430", "evidence": [ { "database": "UniProtKB", "id": "P09471", "url": "https://www.uniprot.org/uniprot/P09471" } ], "pmid": "" }, { "name": "mu-type opioid receptor binding", "id": "GO:0031852", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031852", "evidence": [ { "database": "UniProtKB", "id": "P09471", "url": "https://www.uniprot.org/uniprot/P09471" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 4, "go_terms": [ { "name": "G protein-coupled receptor signaling pathway", "id": "GO:0007186", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007186", "evidence": [ { "database": "UniProtKB", "id": "P09471", "url": "https://www.uniprot.org/uniprot/P09471" } ], "pmid": "" }, { "name": "adenylate cyclase-modulating G protein-coupled receptor signaling pathway", "id": "GO:0007188", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007188", "evidence": [ { "database": "UniProtKB", "id": "P09471", "url": "https://www.uniprot.org/uniprot/P09471" } ], "pmid": "" }, { "name": "muscle contraction", "id": "GO:0006936", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006936", "evidence": [ { "database": "UniProtKB", "id": "P09471", "url": "https://www.uniprot.org/uniprot/P09471" } ], "pmid": "" }, { "name": "dopamine receptor signaling pathway", "id": "GO:0007212", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007212", "evidence": [ { "database": "UniProtKB", "id": "P09471", "url": "https://www.uniprot.org/uniprot/P09471" } ], "pmid": "" } ] }, { "name": "Cellular Component", "total": 3, "go_terms": [ { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "P09471", "url": "https://www.uniprot.org/uniprot/P09471" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "P09471", "url": "https://www.uniprot.org/uniprot/P09471" } ], "pmid": "" }, { "name": "heterotrimeric G-protein complex", "id": "GO:0005834", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005834", "evidence": [ { "database": "UniProtKB", "id": "P09471", "url": "https://www.uniprot.org/uniprot/P09471" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [ { "start_pos": 142, "end_pos": 144, "annotation": "n_glycosylation_sequon" }, { "start_pos": 150, "end_pos": 152, "annotation": "n_glycosylation_sequon" }, { "start_pos": 312, "end_pos": 314, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [], "interactions": [], "reactions": [], "reaction_participants": [], "reaction_enzymes": [], "biomarkers": [], "synthesized_glycans": [], "cluster_types": [ { "name": "isoformset.uniprotkb", "label": "Isoforms" }, { "name": "homologset.oma", "label": "OMA Homologs" }, { "name": "homologset.mgi", "label": "MGI Homologs" } ], "sequence_features": { "n_linked_sites": [], "o_linked_sites": [], "snv_sites": [], "glycation_sites": [], "phosphorylation_sites": [], "sequon_annotation_sites": [ { "start_pos": 142, "end_pos": 144 }, { "start_pos": 150, "end_pos": 152 }, { "start_pos": 312, "end_pos": 314 } ] }, "section_stats": [ { "table_id": "glycosylation", "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", "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": 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_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": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "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": 65 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }