{ "uniprot_canonical_ac": "O75386-1", "uniprot_ac": "O75386", "uniprot_id": "TULP3_HUMAN", "mass": { "chemical_mass": 49642.0, "monoisotopic_mass": 49642.0 }, "refseq": { "ac": "NP_001153880", "name": "tubby-related protein 3 isoform 2", "summary": "This gene encodes a member of the tubby gene family of bipartite transcription factors. Members of this family have been identified in plants, vertebrates, and invertebrates, and they share a conserved N-terminal transcription activation region and a conserved C-terminal DNA and phosphatidylinositol-phosphate binding region. The encoded protein binds to phosphoinositides in the plasma membrane via its C-terminal region and probably functions as a membrane-bound transcription regulator that translocates to the nucleus in response to phosphoinositide hydrolysis, for instance, induced by G-protein-coupled-receptor signaling. It plays an important role in neuronal development and function. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, May 2009].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001153880" }, "gene_names": [ { "name": "TULP3", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O75386", "id": "O75386" }, { "name": "HRCDF; TUBL3", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001153880", "id": "NP_001153880" }, { "name": "TUBL3", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O75386", "id": "O75386" }, { "name": "TULP3", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001153880", "id": "NP_001153880" } ], "protein_names": [ { "name": "Tubby-related protein 3", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O75386" }, { "name": "Tubby-like protein 3", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O75386" }, { "name": "tubby-related protein 3 isoform 2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001153880", "id": "NP_001153880" }, { "name": "tubby-related protein 3; tubby like protein 3", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001153880", "id": "NP_001153880" } ], "function": [ { "annotation": "MicroRNA-506 has a suppressive effect on the tumorigenesis of nonsmall-cell lung cancer by regulating tubby-like protein 3.", "evidence": [ { "database": "RefSeq", "id": "NP_001153880", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001153880" }, { "database": "PubMed", "id": "34874810", "url": "https://glygen.org/publication/PubMed/34874810" } ] }, { "annotation": "Negative regulator of the Shh signaling transduction pathway: recruited to primary cilia via association with the IFT complex A (IFT-A) and is required for recruitment of G protein-coupled receptor GPR161 to cilia, a promoter of PKA-dependent basal repression machinery in Shh signaling. Binds to phosphorylated inositide (phosphoinositide) lipids. Both IFT-A- and phosphoinositide-binding properties are required to regulate ciliary G protein-coupled receptor trafficking. During adipogenesis, regulates ciliary trafficking of FFAR4 in preadipocytes.", "evidence": [ { "database": "UniProtKB", "id": "O75386", "url": "https://www.uniprot.org/uniprot/O75386#function" }, { "database": "PubMed", "id": "11375483", "url": "https://glygen.org/publication/PubMed/11375483" }, { "database": "PubMed", "id": "20889716", "url": "https://glygen.org/publication/PubMed/20889716" }, { "database": "PubMed", "id": "31761534", "url": "https://glygen.org/publication/PubMed/31761534" } ] }, { "annotation": "Observational study of gene-disease association. (HuGE Navigator) Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001153880", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001153880" }, { "database": "PubMed", "id": "20634891", "url": "https://glygen.org/publication/PubMed/20634891" } ] }, { "annotation": "Progressive liver, kidney, and heart degeneration in children and adults affected by TULP3 mutations.", "evidence": [ { "database": "RefSeq", "id": "NP_001153880", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001153880" }, { "database": "PubMed", "id": "35397207", "url": "https://glygen.org/publication/PubMed/35397207" } ] }, { "annotation": "TULP3 silencing suppresses cell proliferation, migration and invasion in gastric cancer via the PTEN/Akt/Snail pathway.", "evidence": [ { "database": "RefSeq", "id": "NP_001153880", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001153880" }, { "database": "PubMed", "id": "35344762", "url": "https://glygen.org/publication/PubMed/35344762" } ] }, { "annotation": "This gene encodes a member of the tubby gene family of bipartite transcription factors. Members of this family have been identified in plants, vertebrates, and invertebrates, and they share a conserved N-terminal transcription activation region and a conserved C-terminal DNA and phosphatidylinositol-phosphate binding region. The encoded protein binds to phosphoinositides in the plasma membrane via its C-terminal region and probably functions as a membrane-bound transcription regulator that translocates to the nucleus in response to phosphoinositide hydrolysis, for instance, induced by G-protein-coupled-receptor signaling. It plays an important role in neuronal development and function. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, May 2009].", "evidence": [ { "database": "RefSeq", "id": "NP_001153880", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001153880" } ] } ], "disease": [ { "disease_id": "MONDO:0859254", "recommended_name": { "id": "MONDO:0859254", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0859254", "name": "hepatorenocardiac degenerative fibrosis", "description": "" }, "synonyms": [ { "id": "MIM:619902", "resource": "MIM", "url": "https://www.omim.org/entry/619902", "name": "Hepatorenocardiac degenerative fibrosis", "description": "Hepatorenocardiac degenerative fibrosis" } ], "evidence": [ { "id": "619902", "database": "MIM", "url": "https://www.omim.org/entry/619902" } ] } ], "snv": [], "mutagenesis": [ { "start_pos": 24, "end_pos": 34, "sequence_org": "RQAKLDYQRLL", "sequence_mut": "AQAAADYAALA", "comment": "In mut12; abolishes association with the IFT complex A (IFT-A) without affecting phosphoinositide binding. Impaired localization to cilia.", "evidence": [ { "database": "UniProtKB", "id": "O75386", "url": "https://www.uniprot.org/uniprot/O75386" }, { "database": "PubMed", "id": "20889716", "url": "https://glygen.org/publication/PubMed/20889716" } ] }, { "start_pos": 268, "end_pos": 270, "sequence_org": "KLR", "sequence_mut": "ALA", "comment": "In TULP3KR; abolishes phosphoinositide binding and impairs localization to cilia. Still associates with the IFT complex A (IFT-A).", "evidence": [ { "database": "UniProtKB", "id": "O75386", "url": "https://www.uniprot.org/uniprot/O75386" }, { "database": "PubMed", "id": "20889716", "url": "https://glygen.org/publication/PubMed/20889716" } ] } ], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "86.17", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000078246", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000078246" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "85.37", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000078246", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000078246" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "84.09", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000078246", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000078246" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "80.08", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000078246", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000078246" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "92.42", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000078246", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000078246" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "83.23", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000078246", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000078246" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "82.32", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000078246", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000078246" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "88.29", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000078246", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000078246" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "87.98", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000078246", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000078246" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "81.15", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000078246", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000078246" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "78.83", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000078246", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000078246" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "86.17", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000078246", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000078246" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "88.31", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000078246", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000078246" } ] } ], "expression_disease": [ { "significant": "Yes", "trend": "down", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "O75386", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75386" } ], "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 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"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, 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"http://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, intestinal", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ] } ] }, { "significant": "No", "trend": "up", "name": "Urinary bladder cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11054", "evidence": [ { "database": "BioXpress", "id": "O75386", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75386" } ], "disease": [ { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ] } ] }, { "significant": "No", "trend": "up", "name": "Head and neck cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11934", "evidence": [ { "database": "BioXpress", "id": "O75386", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75386" } ], "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": "O75386", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75386" } ], "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 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"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 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"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": "No", "trend": "down", "name": "Breast cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1612", "evidence": [ { "database": "BioXpress", "id": "O75386", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75386" } ], "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 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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": "No", "trend": "down", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "O75386", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75386" } ], "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", 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"https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75386" } ], "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": "up", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ { "database": "BioXpress", "id": "O75386", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75386" } ], "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": 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"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75386" } ], "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ] } ] }, { "significant": "No", "trend": "up", "name": "Esophageal cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:5041", "evidence": [ { "database": "BioXpress", "id": "O75386", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75386" } ], "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": 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"sp|O75386-1|TULP3_HUMAN Isoform 1 of Tubby-related protein 3 OS=Homo sapiens OX=9606 GN=TULP3 PE=1 SV=2 CANONICAL=O75386-1" }, "isoforms": [ { "isoform_ac": "F5GWL5-1", "url": "", "sequence": { "sequence": "MEASRCRLSPSGDSVFHEEMMKMRQAKLDYQVLMVQLLS", "length": 39, "header": "tr|F5GWL5-1|F5GWL5_HUMAN Computationally mapped isoform of TUB like protein 3 OS=Homo sapiens OX=9606 GN=TULP3 PE=1 SV=1 CANONICAL=O75386-1" }, "locus": { "chromosome": "12", "start_pos": 2922285, "end_pos": 2890948, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000545331.5", "url": "https://www.ensembl.org/id/ENST00000545331.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000441599.1", "url": "https://www.ensembl.org/id/ENSP00000441599.1" } ] } }, { "isoform_ac": "F5H7B9-1", "url": "", "sequence": { "sequence": "MGTKFTVYDRGICPMKGRGLVGAAHTRQELAAISYETNVLGFKGPRKMSVIIPGMTLNHKQIPYQPQNNHDSLLSRWQNRTMENLVELHNKAPVWNSDTQSYVLNFRGRVTQASVKNFQIVHKNDPDYIVMQFGRVA", "length": 137, "header": "tr|F5H7B9-1|TULP3_HUMAN Computationally mapped isoform of Tubby-related protein 3 OS=Homo sapiens OX=9606 GN=TULP3 PE=1 SV=1 CANONICAL=O75386-1" }, "locus": { "chromosome": "12", "start_pos": 2939345, "end_pos": 2934457, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000544943.5", "url": "https://www.ensembl.org/id/ENST00000544943.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000442631.1", "url": "https://www.ensembl.org/id/ENSP00000442631.1" } ] } }, { "isoform_ac": "H0YFU8-1", "url": "", "sequence": { "sequence": "XPYQPQNNHDSLLSRWQNRTMENLVELHNKAPVWNSDTQSYVLNFRGRVTQASVKNFQIVHKNDPDYIVMQFGRVADDVFTLDYNYPLCAVQAFGIGLSSFDRVPLTAI", "length": 109, "header": "tr|H0YFU8-1|H0YFU8_HUMAN Computationally mapped isoform of TUB like protein 3 OS=Homo sapiens OX=9606 GN=TULP3 PE=1 SV=1 CANONICAL=O75386-1" }, "locus": { "chromosome": "12", "start_pos": 2940216, "end_pos": 2937711, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000538704.1", "url": "https://www.ensembl.org/id/ENST00000538704.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000440364.1", "url": "https://www.ensembl.org/id/ENSP00000440364.1" } ] } }, { "isoform_ac": "H0YG12-1", "url": "", "sequence": { "sequence": "XIPGMTLNHKQIPYQPQNNHDSLLSRWQNRTMENLVELHNKAPVWNSDTQSYVLNFRGRVTQASVKNFQIVHKNDPDYIVMQFGRVADDVFTLDYNYPLCAVQAFGIGLSSFDTDWPAPILVKSGCDHICDQL", "length": 133, "header": "tr|H0YG12-1|H0YG12_HUMAN Computationally mapped isoform of TUB like protein 3 OS=Homo sapiens OX=9606 GN=TULP3 PE=1 SV=1 CANONICAL=O75386-1" }, "locus": { "chromosome": "12", "start_pos": 2940081, "end_pos": 2937678, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000541678.5", "url": "https://www.ensembl.org/id/ENST00000541678.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000441319.1", "url": "https://www.ensembl.org/id/ENSP00000441319.1" } ] } }, { "isoform_ac": "O75386-1", "url": "", "sequence": { "sequence": "MEASRCRLSPSGDSVFHEEMMKMRQAKLDYQRLLLEKRQRKKRLEPFMVQPNPEARLRRAKPRASDEQTPLVNCHTPHSNVILHGIDGPAAVLKPDEVHAPSVSSSVVEEDAENTVDTASKPGLQERLQKHDISESVNFDEETDGISQSACLERPNSASSQNSTDTGTSGSATAAQPADNLLGDIDDLEDFVYSPAPQGVTVRCRIIRDKRGMDRGLFPTYYMYLEKEENQKIFLLAARKRKKSKTANYLISIDPVDLSREGESYVGKLRSNLMGTKFTVYDRGICPMKGRGLVGAAHTRQELAAISYETNVLGFKGPRKMSVIIPGMTLNHKQIPYQPQNNHDSLLSRWQNRTMENLVELHNKAPVWNSDTQSYVLNFRGRVTQASVKNFQIVHKNDPDYIVMQFGRVADDVFTLDYNYPLCAVQAFGIGLSSFDSKLACE", "length": 442, "header": "sp|O75386-1|TULP3_HUMAN Isoform 1 of Tubby-related protein 3 OS=Homo sapiens OX=9606 GN=TULP3 PE=1 SV=2 CANONICAL=O75386-1" }, "locus": { "chromosome": "12", "start_pos": 2939441, "end_pos": 2890948, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000448120.7", "url": "https://www.ensembl.org/id/ENST00000448120.7" }, { "database": "Ensembl Peptide", "id": "ENSP00000410051.2", "url": "https://www.ensembl.org/id/ENSP00000410051.2" } ] } }, { "isoform_ac": "O75386-2", "url": "", "sequence": { "sequence": "MEASRCRLSPSGDSVFHEEMMKMRQAKLDYQRLLLEKRQRKKRLEPFMVQPNPEARLRRAKPRASDEQTPLVNCHTPHSNVILHGIDGPAAVLKPDEVHAPSVSSSVVEEDAENTVDTASKPGLQERLQKHDISESVNFDEETDGISQSACLERPNSASSQNSTDTGTSGSATAAQPADNLLGDIDDLEDFVYSPAPQGVTVRCRIIRDKRGMDRGLFPTYYMYLEKEENQKIFLLAARKRKKSKTANYLISIDPVDLSREGESYVGKLRSNLMGTKFTVYDRGICPMKGRGLVGAAHTRQELAAISYETNVLGFKGPRKMSVIIPGMTLNHKQIPYQPQNNHDSLLSRWQNRTMENLVELHNKAPVWNSDTQSYVLNFRGRVTQASVKNFQIVHKNDPDYIVMQFGRVADDVFTLDYNYPLCAVQAFGIGLSSFDKCIQTLRMQELCELHRQHHSAASLVHRTVCQRWVGHPWRLLPQTSLLWTDLSPPPVVPAPHQISM", "length": 501, "header": "sp|O75386-2|TULP3_HUMAN Isoform 2 of Tubby-related protein 3 OS=Homo sapiens OX=9606 GN=TULP3 PE=1 SV=2 CANONICAL=O75386-1" }, "locus": { "chromosome": "12", "start_pos": 2940723, "end_pos": 2890948, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000397132.6", "url": "https://www.ensembl.org/id/ENST00000397132.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000380321.2", "url": "https://www.ensembl.org/id/ENSP00000380321.2" } ] } }, { "isoform_ac": "O75386-3", "url": "", "sequence": { "sequence": "MMKMRQAKLDYQRLLLEKRQRKKRLEPFMVQPNPEARLRRAKPRASDEQTPLVNCHTPHSNVILHGIDGPAAVLKPDEVHAPSVSSSVVEEDAENTVDTASKPGLQERLQKHDISESVNFDEETDGISQSACLERPNSASSQNSTFSSFCQKTEDTGYRHFRFCYCRPTS", "length": 170, "header": "sp|O75386-3|TULP3_HUMAN Isoform 3 of Tubby-related protein 3 OS=Homo sapiens OX=9606 GN=TULP3 PE=1 SV=2 CANONICAL=O75386-1" }, "locus": { "chromosome": "12", "start_pos": 2931077, "end_pos": 2909545, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000540184.5", "url": "https://www.ensembl.org/id/ENST00000540184.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000444110.1", "url": "https://www.ensembl.org/id/ENSP00000444110.1" } ] } } ], "glycosylation": [], "phosphorylation": [], "glycation": [], "keywords": [], "publication": [ { "title": "Hedgehog induces opposite changes in turnover and subcellular localization of patched and smoothened.", "journal": "Cell", "date": "2000", "authors": "Denef N, Neubuser D, Perez L, Cohen SM", "evidence": [ { "database": "Reactome", "id": "R-HSA-5610787", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5610787" } ], "reference": [ { "type": "PubMed", "id": "10966113", "url": "https://glygen.org/publication/PubMed/10966113" } ] }, { "title": "G-protein signaling through tubby proteins.", "journal": "Science (New York, N.Y.)", "date": "2001", "authors": "Santagata S, Boggon TJ, Baird CL, Gomez CA, Zhao J, Shan WS, Myszka DG, Shapiro L", "evidence": [ { "database": "UniProtKB", "id": "O75386", "url": "https://www.uniprot.org/uniprot/O75386" }, { "database": "Reactome", "id": "R-HSA-5610787", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5610787" } ], "reference": [ { "type": "PubMed", "id": "11375483", "url": "https://glygen.org/publication/PubMed/11375483" } ] }, { "title": "Patched acts catalytically to suppress the activity of Smoothened.", "journal": "Nature", "date": "2002", "authors": "Taipale J, Cooper MK, Maiti T, Beachy PA", "evidence": [ { "database": "Reactome", "id": "R-HSA-5610787", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5610787" } ], "reference": [ { "type": "PubMed", "id": "12192414", "url": "https://glygen.org/publication/PubMed/12192414" } ] }, { "title": "Ski is involved in transcriptional regulation by the repressor and full-length forms of Gli3.", "journal": "Genes & development", "date": "2002", "authors": "Dai P, Shinagawa T, Nomura T, Harada J, Kaul SC, Wadhwa R, Khan MM, Akimaru H, Sasaki H, Colmenares C, Ishii S", "evidence": [ { "database": "Reactome", "id": "R-HSA-5610787", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5610787" } ], "reference": [ { "type": "PubMed", "id": "12435627", "url": "https://glygen.org/publication/PubMed/12435627" } ] }, { "title": "Hedgehog signalling in the mouse requires intraflagellar transport proteins.", "journal": "Nature", "date": "2003", "authors": "Huangfu D, Liu A, Rakeman AS, Murcia NS, Niswander L, Anderson KV", "evidence": [ { "database": "Reactome", "id": "R-HSA-5610787", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5610787" } ], "reference": [ { "type": "PubMed", "id": "14603322", "url": "https://glygen.org/publication/PubMed/14603322" } ] }, { "title": "Expression of the PTCH1 tumor suppressor gene is regulated by alternative promoters and a single functional Gli-binding site.", "journal": "Gene", "date": "2004", "authors": "Agren M, Kogerman P, Kleman MI, Wessling M, Toftgard R", "evidence": [ { "database": "Reactome", "id": "R-HSA-5610787", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5610787" } ], "reference": [ { "type": "PubMed", "id": "15087129", "url": "https://glygen.org/publication/PubMed/15087129" } ] }, { "title": "Mouse intraflagellar transport proteins regulate both the activator and repressor functions of Gli transcription factors.", "journal": "Development (Cambridge, England)", "date": "2005", "authors": "Liu A, Wang B, Niswander LA", "evidence": [ { "database": "Reactome", "id": "R-HSA-5610787", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5610787" } ], "reference": [ { "type": "PubMed", "id": "15930098", "url": "https://glygen.org/publication/PubMed/15930098" } ] }, { "title": "Cilia and Hedgehog responsiveness in the mouse.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2005", "authors": "Huangfu D, Anderson KV", "evidence": [ { "database": "Reactome", "id": "R-HSA-5610787", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5610787" } ], "reference": [ { "type": "PubMed", "id": "16061793", "url": "https://glygen.org/publication/PubMed/16061793" } ] }, { "title": "Vertebrate Smoothened functions at the primary cilium.", "journal": "Nature", "date": "2005", "authors": "Corbit KC, Aanstad P, Singla V, Norman AR, Stainier DY, Reiter JF", "evidence": [ { "database": "Reactome", "id": "R-HSA-5610787", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5610787" } ], "reference": [ { "type": "PubMed", "id": "16136078", "url": "https://glygen.org/publication/PubMed/16136078" } ] }, { "title": "Loss of the retrograde motor for IFT disrupts localization of Smo to cilia and prevents the expression of both activator and repressor functions of Gli.", "journal": "Developmental biology", "date": "2005", "authors": "May SR, Ashique AM, Karlen M, Wang B, Shen Y, Zarbalis K, Reiter J, Ericson J, Peterson AS", "evidence": [ { "database": "Reactome", "id": "R-HSA-5610787", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5610787" } ], "reference": [ { "type": "PubMed", "id": "16229832", "url": "https://glygen.org/publication/PubMed/16229832" } ] }, { "title": "Gli2 and Gli3 localize to cilia and require the intraflagellar transport protein polaris for processing and function.", "journal": "PLoS genetics", "date": "2005", "authors": "Haycraft CJ, Banizs B, Aydin-Son Y, Zhang Q, Michaud EJ, Yoder BK", "evidence": [ { "database": "Reactome", "id": "R-HSA-5610787", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5610787" } ], "reference": [ { "type": "PubMed", "id": "16254602", "url": "https://glygen.org/publication/PubMed/16254602" } ] }, { "title": "Oral-facial-digital type I protein is required for primary cilia formation and left-right axis specification.", "journal": "Nature genetics", "date": "2006", "authors": "Ferrante MI, Zullo A, Barra A, Bimonte S, Messaddeq N, Studer M, Dolle P, Franco B", "evidence": [ { "database": "Reactome", "id": "R-HSA-5610787", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5610787" } ], "reference": [ { "type": "PubMed", "id": "16311594", "url": "https://glygen.org/publication/PubMed/16311594" } ] }, { "title": "Signaling from Smo to Ci/Gli: conservation and divergence of Hedgehog pathways from Drosophila to vertebrates.", "journal": "Development (Cambridge, England)", "date": "2006", "authors": "Huangfu D, Anderson KV", "evidence": [ { "database": "Reactome", "id": "R-HSA-5610787", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5610787" } ], "reference": [ { "type": "PubMed", "id": "16339192", "url": "https://glygen.org/publication/PubMed/16339192" } ] }, { "title": "GLI3-dependent transcriptional repression of Gli1, Gli2 and kidney patterning genes disrupts renal morphogenesis.", "journal": "Development (Cambridge, England)", "date": "2006", "authors": "Hu MC, Mo R, Bhella S, Wilson CW, Chuang PT, Hui CC, Rosenblum ND", "evidence": [ { "database": "Reactome", "id": "R-HSA-5610787", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5610787" } ], "reference": [ { "type": "PubMed", "id": "16396903", "url": "https://glygen.org/publication/PubMed/16396903" } ] }, { "title": "Ciliogenesis defects in embryos lacking inturned or fuzzy function are associated with failure of planar cell polarity and Hedgehog signaling.", "journal": "Nature genetics", "date": "2006", "authors": "Park TJ, Haigo SL, Wallingford JB", "evidence": [ { "database": "Reactome", "id": "R-HSA-5610787", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5610787" } ], "reference": [ { "type": "PubMed", "id": "16493421", "url": "https://glygen.org/publication/PubMed/16493421" } ] }, { "title": "Oxysterols stimulate Sonic hedgehog signal transduction and proliferation of medulloblastoma cells.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2006", "authors": "Corcoran RB, Scott MP", "evidence": [ { "database": "Reactome", "id": "R-HSA-5610787", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5610787" } ], "reference": [ { "type": "PubMed", "id": "16707575", "url": "https://glygen.org/publication/PubMed/16707575" } ] }, { "title": "Hippi is essential for node cilia assembly and Sonic hedgehog signaling.", "journal": "Developmental biology", "date": "2006", "authors": "Houde C, Dickinson RJ, Houtzager VM, Cullum R, Montpetit R, Metzler M, Simpson EM, Roy S, Hayden MR, Hoodless PA, Nicholson DW", "evidence": [ { "database": "Reactome", "id": "R-HSA-5610787", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5610787" } ], "reference": [ { "type": "PubMed", "id": "17027958", "url": "https://glygen.org/publication/PubMed/17027958" } ] }, { "title": "Oxysterols are novel activators of the hedgehog signaling pathway in pluripotent mesenchymal cells.", "journal": "The Journal of biological chemistry", "date": "2007", "authors": "Dwyer JR, Sever N, Carlson M, Nelson SF, Beachy PA, Parhami F", "evidence": [ { "database": "Reactome", "id": "R-HSA-5610787", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5610787" } ], "reference": [ { "type": "PubMed", "id": "17200122", "url": "https://glygen.org/publication/PubMed/17200122" } ] }, { "title": "Genomic characterization of Gli-activator targets in sonic hedgehog-mediated neural patterning.", "journal": "Development (Cambridge, England)", "date": "2007", "authors": "Vokes SA, Ji H, McCuine S, Tenzen T, Giles S, Zhong S, Longabaugh WJ, Davidson EH, Wong WH, McMahon AP", "evidence": [ { "database": "Reactome", "id": "R-HSA-5610787", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5610787" } ], "reference": [ { "type": "PubMed", "id": "17442700", "url": "https://glygen.org/publication/PubMed/17442700" } ] }, { "title": "Ftm is a novel basal body protein of cilia involved in Shh signalling.", "journal": "Development (Cambridge, England)", "date": "2007", "authors": "Vierkotten J, Dildrop R, Peters T, Wang B, Ruther U", "evidence": [ { "database": "Reactome", "id": "R-HSA-5610787", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5610787" } ], "reference": [ { "type": "PubMed", "id": "17553904", "url": "https://glygen.org/publication/PubMed/17553904" } ] }, { "title": "Patched1 regulates hedgehog signaling at the primary cilium.", "journal": "Science (New York, N.Y.)", "date": "2007", "authors": "Rohatgi R, Milenkovic L, Scott MP", "evidence": [ { "database": "Reactome", "id": "R-HSA-5610787", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5610787" } ], "reference": [ { "type": "PubMed", "id": "17641202", "url": "https://glygen.org/publication/PubMed/17641202" } ] }, { "title": "Patching the gaps in Hedgehog signalling.", "journal": "Nature cell biology", "date": "2007", "authors": "Rohatgi R, Scott MP", "evidence": [ { "database": "Reactome", "id": "R-HSA-5610787", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5610787" } ], "reference": [ { "type": "PubMed", "id": "17762891", "url": "https://glygen.org/publication/PubMed/17762891" } ] }, { "title": "Hedgehog regulates smoothened activity by inducing a conformational switch.", "journal": "Nature", "date": "2007", "authors": "Zhao Y, Tong C, Jiang J", "evidence": [ { "database": "Reactome", "id": "R-HSA-5610787", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5610787" } ], "reference": [ { "type": "PubMed", "id": "17960137", "url": "https://glygen.org/publication/PubMed/17960137" } ] }, { "title": "THM1 negatively modulates mouse sonic hedgehog signal transduction and affects retrograde intraflagellar transport in cilia.", "journal": "Nature genetics", "date": "2008", "authors": "Tran PV, Haycraft CJ, Besschetnova TY, Turbe-Doan A, Stottmann RW, Herron BJ, Chesebro AL, Qiu H, Scherz PJ, Shah JV, Yoder BK, Beier DR", "evidence": [ { "database": "Reactome", "id": "R-HSA-5610787", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5610787" } ], "reference": [ { "type": "PubMed", "id": "18327258", "url": "https://glygen.org/publication/PubMed/18327258" } ] }, { "title": "Application of active and kinase-deficient kinome collection for identification of kinases regulating hedgehog signaling.", "journal": "Cell", "date": "2008", "authors": "Varjosalo M, Bjorklund M, Cheng F, Syvanen H, Kivioja T, Kilpinen S, Sun Z, Kallioniemi O, Stunnenberg HG, He WW, Ojala P, Taipale J", "evidence": [ { 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Cell", "date": "2017", "authors": "Hirano T, Katoh Y, Nakayama K", "evidence": [ { "database": "UniProtKB", "id": "O75386", "url": "https://www.uniprot.org/uniprot/O75386" } ], "reference": [ { "type": "PubMed", "id": "27932497", "url": "https://glygen.org/publication/PubMed/27932497" } ] }, { "title": "Omega-3 Fatty Acids Activate Ciliary FFAR4 to Control Adipogenesis.", "journal": "Cell", "date": "2019", "authors": "Hilgendorf KI, Johnson CT, Mezger A, Rice SL, Norris AM, Demeter J, Greenleaf WJ, Reiter JF, Kopinke D, Jackson PK", "evidence": [ { "database": "UniProtKB", "id": "O75386", "url": "https://www.uniprot.org/uniprot/O75386" } ], "reference": [ { "type": "PubMed", "id": "31761534", "url": "https://glygen.org/publication/PubMed/31761534" } ] }, { "title": "MicroRNA-506 has a suppressive effect on the tumorigenesis of nonsmall-cell lung cancer by regulating tubby-like protein 3.", "journal": "Bioengineered", "date": "2021", "authors": "Li ZH, Zhou JH, Chen SN, Pan L, Feng Y, Luo MQ, Li RX, Sun GL", "evidence": [ { "database": "RefSeq", "id": "NP_001153880", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001153880" } ], "reference": [ { "type": "PubMed", "id": "34874810", "url": "https://glygen.org/publication/PubMed/34874810" } ] }, { "title": "TULP3 silencing suppresses cell proliferation, migration and invasion in gastric cancer via the PTEN/Akt/Snail pathway.", "journal": "Cancer treatment and research communications", "date": "2022", "authors": "Song J, Fu Q, Liu G, Zhang C, Wang Y, Tao S, Liu R, Li Z", "evidence": [ { "database": "RefSeq", "id": "NP_001153880", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001153880" } ], "reference": [ { "type": "PubMed", "id": "35344762", "url": "https://glygen.org/publication/PubMed/35344762" } ] }, { "title": "Progressive liver, kidney, and heart degeneration in children and adults affected by TULP3 mutations.", "journal": "American journal of human genetics", "date": "2022", "authors": "Devane J, Ott E, Olinger EG, Epting D, Decker E, Friedrich A, Bachmann N, Renschler G, Eisenberger T, Briem-Richter A, Grabhorn EF, Powell L, Wilson IJ, Rice SJ, Miles CG, Wood K, Trivedi P, Hirschfield G, Pietrobattista A, Wohler E, Mezina A, Sobreira N, Agolini E, Maggiore G, Dahmer-Heath M, Yilmaz A, Boerries M, Metzger P, Schell C, Grunewald I, Konrad M, Konig J, Schlevogt B, Sayer JA, Bergmann C", "evidence": [ { "database": "UniProtKB", "id": "O75386", "url": "https://www.uniprot.org/uniprot/O75386" }, { "database": "RefSeq", "id": "NP_001153880", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001153880" } ], "reference": [ { "type": "PubMed", "id": "35397207", "url": "https://glygen.org/publication/PubMed/35397207" } ] }, { "title": "Molecular characterization of a novel tubby gene family member, TULP3, in mouse and humans.", "journal": "Genomics", "date": "1998", "authors": "Nishina P M, North M A, Ikeda A, Yan Y, Naggert J K", "evidence": [ { "database": "UniProtKB", "id": "O75386", "url": 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