{ "uniprot_canonical_ac": "O75161-1", "uniprot_ac": "O75161", "uniprot_id": "NPHP4_HUMAN", "mass": { "chemical_mass": 157598.0, "monoisotopic_mass": 157598.0 }, "refseq": { "ac": "NP_001278522", "name": "nephrocystin-4 isoform b", "summary": "This gene encodes a protein involved in renal tubular development and function. This protein interacts with nephrocystin, and belongs to a multifunctional complex that is localized to actin- and microtubule-based structures. Mutations in this gene are associated with nephronophthisis type 4, a renal disease, and with Senior-Loken syndrome type 4, a combination of nephronophthisis and retinitis pigmentosa. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2014].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001278522" }, "gene_names": [ { "name": "NPHP4", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O75161", "id": "O75161" }, { "name": "KIAA0673", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O75161", "id": "O75161" }, { "name": "NPHP4", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001278522", "id": "NP_001278522" }, { "name": "POC10; SLSN4", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001278522", "id": "NP_001278522" } ], "protein_names": [ { "name": "Nephrocystin-4", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O75161" }, { "name": "Nephroretinin", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O75161" }, { "name": "POC10 centriolar protein homolog; nephroretinin", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001278522", "id": "NP_001278522" }, { "name": "nephrocystin-4 isoform b", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001278522", "id": "NP_001278522" } ], "function": [ { "annotation": "A novel NPHP4 homozygous missense variant identified in infertile brothers with multiple morphological abnormalities of the sperm flagella.", "evidence": [ { "database": "RefSeq", "id": "NP_001278522", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001278522" }, { "database": "PubMed", "id": "37831349", "url": "https://glygen.org/publication/PubMed/37831349" } ] }, { "annotation": "Association of Nephronophthisis 4 genetic variation with cardiorenal syndrome and cardiovascular events in Japanese general population: the Yamagata (Takahata) study.", "evidence": [ { "database": "RefSeq", "id": "NP_001278522", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001278522" }, { "database": "PubMed", "id": "34591160", "url": "https://glygen.org/publication/PubMed/34591160" } ] }, { "annotation": "Encodes a novel protein, nephroretinin, that is conserved in evolution--for example, in the nematode Caenorhabditis elegans. GeneRIF: Recessive mutations in the NPHP4 gene, encoding the protein nephroretinin, in humans cause nephronophthisis type 4 and Senior-Loken syndrome.There is evolutionary conservation of the NPHP4 gene, with an ortholog in C. elegans.", "evidence": [ { "database": "RefSeq", "id": "NP_001278522", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001278522" }, { "database": "PubMed", "id": "12205563", "url": "https://glygen.org/publication/PubMed/12205563" } ] }, { "annotation": "Interacts with NPHP1 protein, suggesting that these two proteins participate in a common signaling pathway; identification of five different mutations in unrelated individuals with nephronophthisis Erratum:[Nat Genet 2002 Nov;32(3):459]", "evidence": [ { "database": "RefSeq", "id": "NP_001278522", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001278522" }, { "database": "PubMed", "id": "12244321", "url": "https://glygen.org/publication/PubMed/12244321" } ] }, { "annotation": "Involved in the organization of apical junctions; the function is proposed to implicate a NPHP1-4-8 module (PubMed:19755384, PubMed:21565611). Does not seem to be strictly required for ciliogenesis (PubMed:21565611). Required for building functional cilia. Involved in the organization of the subapical actin network in multiciliated epithelial cells. Seems to recruit INT to basal bodies of motile cilia which subsequently interacts with actin-modifying proteins such as DAAM1 (By similarity). In cooperation with INVS may down-regulate the canonical Wnt pathway and promote the Wnt-PCP pathway by regulating expression and subcellular location of disheveled proteins. Stabilizes protein levels of JADE1 and promotes its translocation to the nucleus leading to cooperative inhibition of canonical Wnt signaling (PubMed:21498478, PubMed:22654112). Acts as a negative regulator of the hippo pathway by association with LATS1 and modifying LATS1-dependent phosphorylation and localization of WWTR1/TAZ (PubMed:21555462).", "evidence": [ { "database": "UniProtKB", "id": "O75161", "url": "https://www.uniprot.org/uniprot/O75161#function" }, { "database": "PubMed", "id": "21498478", "url": "https://glygen.org/publication/PubMed/21498478" }, { "database": "PubMed", "id": "21555462", "url": "https://glygen.org/publication/PubMed/21555462" }, { "database": "PubMed", "id": "21565611", "url": "https://glygen.org/publication/PubMed/21565611" }, { "database": "UniProtKB", "id": "B0DOB4", "url": "https://www.uniprot.org/uniprot/B0DOB4#function" }, { "database": "UniProtKB", "id": "P59240", "url": "https://www.uniprot.org/uniprot/P59240#function" }, { "database": "PubMed", "id": "19755384", "url": "https://glygen.org/publication/PubMed/19755384" }, { "database": "PubMed", "id": "22654112", "url": "https://glygen.org/publication/PubMed/22654112" } ] }, { "annotation": "SENIOR-LOKEN SYNDROME: A Case Series and Review of the Renoretinal Phenotype and Advances of Molecular Diagnosis. Review article", "evidence": [ { "database": "RefSeq", "id": "NP_001278522", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001278522" }, { "database": "PubMed", "id": "33512896", "url": "https://glygen.org/publication/PubMed/33512896" } ] }, { "annotation": "This gene encodes a protein involved in renal tubular development and function. This protein interacts with nephrocystin, and belongs to a multifunctional complex that is localized to actin- and microtubule-based structures. Mutations in this gene are associated with nephronophthisis type 4, a renal disease, and with Senior-Loken syndrome type 4, a combination of nephronophthisis and retinitis pigmentosa. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2014].", "evidence": [ { "database": "RefSeq", "id": "NP_001278522", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001278522" } ] } ], "disease": [ { "disease_id": "DOID:0050576", "recommended_name": { "id": "DOID:0050576", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050576", "name": "Senior-Loken syndrome", "description": "A syndrome characterized by progressive wasting of the filtering unit of the kidney (nephronophthisis), with or without medullary cystic renal disease, and progressive eye disease." }, "synonyms": [ { "id": "DOID:0050576", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050576", "name": "Loken Senior syndrome", "description": "" }, { "id": "DOID:0050576", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050576", "name": "renal-retinal syndrome", "description": "" }, { "id": "MONDO:0009962", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009962", "name": "Senior-Loken syndrome 1", "description": "Any Senior-Loken syndrome in which the cause of the disease is a mutation in the NPHP1 gene." }, { "id": "MONDO:0009962", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009962", "name": "NPHP1 Senior-Loken syndrome", "description": "" }, { "id": "MONDO:0009962", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009962", "name": "Senior-Loken syndrome 1", "description": "" }, { "id": "MONDO:0009962", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009962", "name": "Senior-Loken syndrome caused by mutation in NPHP1", "description": "" }, { "id": "MONDO:0009962", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009962", "name": "Senior-Loken syndrome type 1", "description": "" }, { "id": "MONDO:0009962", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009962", "name": "senior-loken syndrome-1", "description": "" }, { "id": "MONDO:0009962", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009962", "name": "Loken-Senior syndrome", "description": "" }, { "id": "MONDO:0009962", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009962", "name": "SENIOR-Loken syndrome 1", "description": "" }, { "id": "MONDO:0009962", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009962", "name": "SLSN1", "description": "" }, { "id": "MONDO:0009962", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009962", "name": "Senior-Loken syndrome", "description": "" }, { "id": "MONDO:0009962", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009962", "name": "juvenile nephronophthisis with Leber amaurosis", "description": "" }, { "id": "MONDO:0009962", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009962", "name": "renal dysplasia and retinal aplasia", "description": "" }, { "id": "MONDO:0009962", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009962", "name": "renal-retinal syndrome", "description": "" }, { "id": "MONDO:0012225", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012225", "name": "Senior-Loken syndrome 5", "description": "Any Senior-Loken syndrome in which the cause of the disease is a mutation in the IQCB1 gene." }, { "id": "MONDO:0012225", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012225", "name": "IQCB1 Senior-Loken syndrome", "description": "" }, { "id": "MONDO:0012225", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012225", "name": "Senior-Loken syndrome 5", "description": "" }, { "id": "MONDO:0012225", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012225", "name": "Senior-Loken syndrome caused by mutation in IQCB1", "description": "" }, { "id": "MONDO:0012225", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012225", "name": "Senior-Loken syndrome type 5", "description": "" }, { "id": "MONDO:0012225", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012225", "name": "SENIOR-Loken syndrome 5", "description": "" }, { "id": "MONDO:0012225", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012225", "name": "SLSN5", "description": "" }, { "id": "MONDO:0011755", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011755", "name": "senior-loken syndrome 3", "description": "" }, { "id": "MONDO:0011755", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011755", "name": "SLSN3", "description": "" }, { "id": "MONDO:0011755", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011755", "name": "SENIOR-Loken syndrome 3", "description": "" }, { "id": "MONDO:0011756", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011756", "name": "Senior-Loken syndrome 4", "description": "Any Senior-Loken syndrome in which the cause of the disease is a mutation in the NPHP4 gene." }, { "id": "MONDO:0011756", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011756", "name": "NPHP4 Senior-Loken syndrome", "description": "" }, { "id": "MONDO:0011756", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011756", "name": "Senior-Loken syndrome 4", "description": "" }, { "id": "MONDO:0011756", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011756", "name": "Senior-Loken syndrome caused by mutation in NPHP4", "description": "" }, { "id": "MONDO:0011756", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011756", "name": "Senior-Loken syndrome type 4", "description": "" }, { "id": "MONDO:0011756", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011756", "name": "SENIOR-Loken syndrome 4", "description": "" }, { "id": "MONDO:0011756", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011756", "name": "SLSN4", "description": "" }, { "id": "MONDO:0013326", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013326", "name": "Senior-Loken syndrome 7", "description": "Any Senior-Loken syndrome in which the cause of the disease is a mutation in the SDCCAG8 gene." }, { "id": "MONDO:0013326", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013326", "name": "SDCCAG8 Senior-Loken syndrome", "description": "" }, { "id": "MONDO:0013326", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013326", "name": "Senior-Loken syndrome 7", "description": "" }, { "id": "MONDO:0013326", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013326", "name": "Senior-Loken syndrome caused by mutation in SDCCAG8", "description": "" }, { "id": "MONDO:0013326", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013326", "name": "Senior-Loken syndrome type 7", "description": "" }, { "id": "MONDO:0013326", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013326", "name": "SENIOR-Loken syndrome 7", "description": "" }, { "id": "MONDO:0013326", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013326", "name": "SLSN7", "description": "" }, { "id": "MONDO:0012433", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012433", "name": "Senior-Loken syndrome 6", "description": "Any Senior-Loken syndrome in which the cause of the disease is a mutation in the CEP290 gene." }, { "id": "MONDO:0012433", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012433", "name": "CEP290 Senior-Loken syndrome", "description": "" }, { "id": "MONDO:0012433", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012433", "name": "Senior-Loken syndrome 6", "description": "" }, { "id": "MONDO:0012433", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012433", "name": "Senior-Loken syndrome caused by mutation in CEP290", "description": "" }, { "id": "MONDO:0012433", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012433", "name": "Senior-Loken syndrome type 6", "description": "" }, { "id": "MONDO:0012433", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012433", "name": "SENIOR-Loken syndrome 6", "description": "" }, { "id": "MONDO:0012433", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012433", "name": "SLSN6", "description": "" }, { "id": "MIM:266900", "resource": "MIM", "url": "https://www.omim.org/entry/266900", "name": "Senior-Loken syndrome 1", "description": "Senior-Loken syndrome 1" }, { "id": "MIM:609254", "resource": "MIM", "url": "https://www.omim.org/entry/609254", "name": "Senior-Loken syndrome 5", "description": "Senior-Loken syndrome 5" }, { "id": "MIM:606996", "resource": "MIM", "url": "https://www.omim.org/entry/606996", "name": "Senior-Loken syndrome 4", "description": "Senior-Loken syndrome 4" }, { "id": "MIM:613615", "resource": "MIM", "url": "https://www.omim.org/entry/613615", "name": "Senior-Loken syndrome 7", "description": "Senior-Loken syndrome 7" }, { "id": "MIM:610189", "resource": "MIM", "url": "https://www.omim.org/entry/610189", "name": "Senior-Loken syndrome 6", "description": "Senior-Loken syndrome 6" } ], "evidence": [ { "id": "606996", "database": "MIM", "url": "https://www.omim.org/entry/606996" } ] }, { "disease_id": "DOID:0111115", "recommended_name": { "id": "DOID:0111115", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111115", "name": "nephronophthisis 4", "description": "A nephronophthisis that has_material_basis_in mutation in the NPHP4 gene on chromosome 1p36.31." }, "synonyms": [ { "id": "DOID:0111115", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111115", "name": "NPHP4", "description": "" }, { "id": "DOID:0111115", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111115", "name": "juvenile nephronophthisis 4", "description": "" }, { "id": "MONDO:0011752", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011752", "name": "nephronophthisis 4", "description": "Any nephronophthisis in which the cause of the disease is a mutation in the NPHP4 gene." }, { "id": "MONDO:0011752", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011752", "name": "NPHP4", "description": "" }, { "id": "MONDO:0011752", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011752", "name": "NPHP4 nephronophthisis (disease)", "description": "" }, { "id": "MONDO:0011752", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011752", "name": "juvenile nephronophthisis 4", "description": "" }, { "id": "MONDO:0011752", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011752", "name": "nephronophthisis (disease) caused by mutation in NPHP4", "description": "" }, { "id": "MONDO:0011752", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011752", "name": "nephronophthisis 4", "description": "" }, { "id": "MONDO:0011752", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011752", "name": "nephronophthisis type 4", "description": "" }, { "id": "MONDO:0011752", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011752", "name": "nephronophthisis 4, juvenile", "description": "" }, { "id": "MIM:606966", "resource": "MIM", "url": "https://www.omim.org/entry/606966", "name": "Nephronophthisis 4", "description": "Nephronophthisis 4" } ], "evidence": [ { "id": "606966", "database": "MIM", "url": "https://www.omim.org/entry/606966" } ] } ], "snv": [ { "evidence": [ { "id": "O75161", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O75161" } ], "glycoeffect": [], "start_pos": 658, "end_pos": 658, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "Q", "comment": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3).", "chr_id": "1", "chr_pos": "5904787", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R658", "disease": [ { "disease_id": "DOID:1319", "recommended_name": { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "brain cancer", "description": "A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain." }, "synonyms": [ { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "BT - Brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "adult brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "adult malignant brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm, adult", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "malignant brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of Brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of adult brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "primary malignant neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "tumor of the Brain", "description": "" } ] }, { "disease_id": "DOID:1793", "recommended_name": { "id": "DOID:1793", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1793", "name": "pancreatic cancer", "description": "An endocrine gland cancer located_in the pancreas." }, "synonyms": [ { "id": "DOID:1793", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1793", "name": "Ca body of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1793", "name": "Ca head of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1793", "name": "Ca tail of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of body of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of head of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of tail of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1793", "name": "pancreas neoplasm", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1793", "name": "pancreatic neoplasm", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1793", "name": "pancreatic tumor", "description": "" } ] }, { "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" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "mutagenesis": [], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "68.38", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000131697", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000131697" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "63.3", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000131697", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000131697" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "61.36", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000131697", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000131697" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "49.96", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000131697", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000131697" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "78.37", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000131697", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000131697" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "70.92", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000131697", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000131697" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "47.76", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000131697", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000131697" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "69.61", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000131697", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000131697" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "85.04", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000131697", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000131697" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "52.17", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000131697", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000131697" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "65.55", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000131697", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000131697" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "78.22", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000131697", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000131697" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "78.06", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000131697", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000131697" } ] } ], "expression_disease": [ { "significant": "Yes", "trend": "up", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "O75161", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75161" } ], "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": "up", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "O75161", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75161" } ], "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": "up", "name": "Urinary bladder cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11054", "evidence": [ { "database": "BioXpress", "id": "O75161", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75161" } ], "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": "O75161", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75161" } ], "disease": [ { "disease_id": "DOID:11934", "recommended_name": { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck cancer", "description": "An organ system cancer that arises in the head or neck region. This region includes the nasal cavity, sinuses, lips, mouth, salivary glands, throat, or larynx." }, "synonyms": [ { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck tumours", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head/neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "tumor of head and neck", "description": "" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Lung cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1324", "evidence": [ { "database": "BioXpress", "id": "O75161", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75161" } ], "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": "O75161", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75161" } ], "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": "O75161", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75161" } ], "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": "No", "trend": "up", "name": "Kidney cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:263", "evidence": [ { "database": "BioXpress", "id": "O75161", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75161" } ], "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": "No", "trend": "up", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ { "database": "BioXpress", "id": "O75161", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75161" } ], "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": "No", "trend": "up", "name": "Uterine cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:363", "evidence": [ { "database": "BioXpress", "id": "O75161", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75161" } ], "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": "up", "name": "Esophageal cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:5041", "evidence": [ { "database": "BioXpress", "id": "O75161", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75161" } ], "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": "up", "name": "Colorectal cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:9256", "evidence": [ { "database": "BioXpress", "id": "O75161", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75161" } ], "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": "O75161", "url": "https://www.uniprot.org/uniprot/O75161" } ], "common_name": "Human" } ], "gene": [ { "name": "NPHP4", "url": "https://www.uniprot.org/uniprot/O75161", "locus": { "chromosome": "1", "start_pos": 5862811, "end_pos": 5992473, "strand": "+", "evidence": [ { "database": "Ensembl Gene", "id": "ENSG00000131697", "url": "https://www.ensembl.org/id/ENSG00000131697" } ] } } ], "crossref": [ { "id": "ENSG00000131697", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000131697", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "O75161", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O75161", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "cd22239", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd22239", "database": "CDD", "categories": [ "Protein Classification" ] }, { "id": "NPHP4", "url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=NPHP4", "database": "GeneCards", "categories": [ "Gene Annotation", "Organism-specific" ] }, { "id": "261734", "url": "https://www.ncbi.nlm.nih.gov/gene/261734", "database": "GeneID", "categories": [ "Genome Annotation" ] }, { "id": "19104", "url": "https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=19104", "database": "HGNC", "categories": [ "Organism-specific" ] }, { "id": "O75161", "url": "https://www.ebi.ac.uk/intact/interactors/id:O75161*", "database": "IntAct", "categories": [ "Other" ] }, { "id": "IPR029775", "url": "https://www.ebi.ac.uk/interpro/entry/IPR029775", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "606966", "url": "http://www.omim.org/entry/606966", "database": "MIM", "categories": [ "Other" ] }, { "id": "606996", "url": "http://www.omim.org/entry/606996", "database": "MIM", "categories": [ "Other" ] }, { "id": "607215", "url": "http://www.omim.org/entry/607215", "database": "MIM", "categories": [ "Other" ] }, { "id": "NX_O75161", "url": "https://www.nextprot.org/entry/NX_O75161", "database": "neXtProt", "categories": [ "Protein", "Organism-specific" ] }, { "id": "FLLEYTF", "url": "https://omabrowser.org/oma/group/FLLEYTF/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "313695at2759", "url": "http://www.orthodb.org/?query=313695at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR31043", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR31043", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR31043:SF3", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR31043:SF3", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "O75161", "url": "https://pharos.nih.gov/targets/O75161", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR_O75161", "url": "http://purl.obolibrary.org/obo/PR_O75161", "database": "PRO", "categories": [ "Protein" ] }, { "id": "R-HSA-2028269", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2028269", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-5620912", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5620912", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "NP_001278522", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001278522", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "D6RA06", "url": "https://www.uniprot.org/uniprot/D6RA06", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "D6RA06-1", "url": "https://www.uniprot.org/uniprot/D6RA06-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H0YA08", "url": "https://www.uniprot.org/uniprot/H0YA08", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H0YA08-1", "url": "https://www.uniprot.org/uniprot/H0YA08-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O75161", "url": "https://www.uniprot.org/uniprot/O75161", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O75161-1", "url": "https://www.uniprot.org/uniprot/O75161-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O75161-2", "url": "https://www.uniprot.org/uniprot/O75161-2", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MNDWHRIFTQNVLVPPHPQRARQPWKESTAFQCVLKWLDGPVIRQGVLEVLSEVECHLRVSFFDVTYRHFFGRTWKTTVKPTKRPPSRIVFNEPLYFHTSLNHPHIVAVVEVVAEGKKRDGSLQTLSCGFGILRIFSNQPDSPISASQDKRLRLYHGTPRALLHPLLQDPAEQNRHMTLIENCSLQYTLKPHPALEPAFHLLPENLLVSGLQQIPGLLPAHGESGDALRKPRLQKPITGHLDDLFFTLYPSLEKFEEELLELHVQDHFQEGCGPLDGGALEILERRLRVGVHNGLGFVQRPQVVVLVPEMDVALTRSASFSRKVVSSSKTSSGSQALVLRSRLRLPEMVGHPAFAVIFQLEYVFSSPAGVDGNAASVTSLSNLACMHMVRWAVWNPLLEADSGRVTLPLQGGIQPNPSHCLVYKVPSASMSSEEVKQVESGTLRFQFSLGSEEHLDAPTEPVSGPKVERRPSRKPPTSPSSPPAPVPRVLAAPQNSPVGPGLSISQLAASPRSPTQHCLARPTSQLPHGSQASPAQAQEFPLEAGISHLEADLSQTSLVLETSIAEQLQELPFTPLHAPIVVGTQTRSSAGQPSRASMVLLQSSGFPEILDANKQPAEAVSATEPVTFNPQKEESDCLQSNEMVLQFLAFSRVAQDCRGTSWPKTVYFTFQFYRFPPATTPRLQLVQLDEAGQPSSGALTHILVPVSRDGTFDAGSPGFQLRYMVGPGFLKPGERRCFARYLAVQTLQIDVWDGDSLLLIGSAAVQMKHLLRQGRPAVQASHELEVVATEYEQDNMVVSGDMLGFGRVKPIGVHSVVKGRLHLTLANVGHPCEQKVRGCSTLPPSRSRVISNDGASRFSGGSLLTTGSSRRKHVVQAQKLADVDSELAAMLLTHARQGKGPQDVSRESDATRRRKLERMRSVRLQEAGGDLGRRGTSVLAQQSVRTQHLRDLQVIAAYRERTKAESIASLLSLAITTEHTLHATLGVAEFFEFVLKNPHNTQHTVTVEIDNPELSVIVDSQEWRDFKGAAGLHTPVEEDMFHLRGSLAPQLYLRPHETAHVPFKFQSFSAGQLAMVQASPGLSNEKGMDAVSPWKSSAVPTKHAKVLFRASGGKPIAVLCLTVELQPHVVDQVFRFYHPELSFLKKAIRLPPWHTFPGAPVGMLGEDPPVHVRCSDPNVICETQNVGPGEPRDIFLKVASGPSPEIKDFFVIIYSDRWLATPTQTWQVYLHSLQRVDVSCVAGQLTRLSLVLRGTQTVRKVRAFTSHPQELKTDPKGVFVLPPRGVQDLHVGVRPLRAGSRFVHLNLVDVDCHQLVASWLVCLCCRQPLISKAFEIMLAAGEGKGVNKRITYTNPYPSRRTFHLHSDHPELLRFREDSFQVGGGETYTIGLQFAPSQRVGEEEILIYINDHEDKNEEAFCVKVIYQ", "length": 1426, "header": "sp|O75161-1|NPHP4_HUMAN Isoform 1 of Nephrocystin-4 OS=Homo sapiens OX=9606 GN=NPHP4 PE=1 SV=2 CANONICAL=O75161-1" }, "isoforms": [ { "isoform_ac": "D6RA06-1", "url": "", "sequence": { "sequence": "MNDWHRIFTQNVLVPPHPQRARQPWKESTAFQCVLKWLDGPVIRQGVLEVLSEVECHLRVSFFDVTYRHFFGRTWKTTVKPTKRPPSRIVFNEPLYFHTSLNHPHIVAVVEVVAEGKKRDGSLQTLSCGFGILRIFSNQPDSPISASQDKRLRLYHGTPRALLHPLLQDPAEQNRHMTLIENCSLQYTLKPHPALEPAFHLLPENLLVSGLQQIPGLLPAHGESGMWPTGRWCPGDPGAAPACGRAQWSGLRAEAAGRCTGA", "length": 262, "header": "tr|D6RA06-1|NPHP4_HUMAN Computationally mapped isoform of Nephrocystin-4 OS=Homo sapiens OX=9606 GN=NPHP4 PE=1 SV=1 CANONICAL=O75161-1" }, "locus": { "chromosome": "1", "start_pos": 5986289, "end_pos": 5948139, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000378169.7", "url": "https://www.ensembl.org/id/ENST00000378169.7" }, { "database": "Ensembl Peptide", "id": "ENSP00000367411.3", "url": "https://www.ensembl.org/id/ENSP00000367411.3" } ] } }, { "isoform_ac": "H0YA08-1", "url": "", "sequence": { "sequence": "XEMVLQFLAFSRVAQDCRGTSWPKTVYFTFQFYRFPPATTPRLQLVQLDEAGQPSSGALTHILVPVSRDGTFDAGSPGFQLRYMVGPGFLKPGERRCFARYLAVQTLQIDVWDGDSLLLIGSAAVQMKETSHIFSVSQ", "length": 138, "header": "tr|H0YA08-1|NPHP4_HUMAN Computationally mapped isoform of Nephrocystin-4 OS=Homo sapiens OX=9606 GN=NPHP4 PE=1 SV=1 CANONICAL=O75161-1" }, "locus": { "chromosome": "1", "start_pos": 5905324, "end_pos": 5888579, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000466897.1", "url": "https://www.ensembl.org/id/ENST00000466897.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000425745.1", "url": "https://www.ensembl.org/id/ENSP00000425745.1" } ] } }, { "isoform_ac": "O75161-1", "url": "", "sequence": { "sequence": "MNDWHRIFTQNVLVPPHPQRARQPWKESTAFQCVLKWLDGPVIRQGVLEVLSEVECHLRVSFFDVTYRHFFGRTWKTTVKPTKRPPSRIVFNEPLYFHTSLNHPHIVAVVEVVAEGKKRDGSLQTLSCGFGILRIFSNQPDSPISASQDKRLRLYHGTPRALLHPLLQDPAEQNRHMTLIENCSLQYTLKPHPALEPAFHLLPENLLVSGLQQIPGLLPAHGESGDALRKPRLQKPITGHLDDLFFTLYPSLEKFEEELLELHVQDHFQEGCGPLDGGALEILERRLRVGVHNGLGFVQRPQVVVLVPEMDVALTRSASFSRKVVSSSKTSSGSQALVLRSRLRLPEMVGHPAFAVIFQLEYVFSSPAGVDGNAASVTSLSNLACMHMVRWAVWNPLLEADSGRVTLPLQGGIQPNPSHCLVYKVPSASMSSEEVKQVESGTLRFQFSLGSEEHLDAPTEPVSGPKVERRPSRKPPTSPSSPPAPVPRVLAAPQNSPVGPGLSISQLAASPRSPTQHCLARPTSQLPHGSQASPAQAQEFPLEAGISHLEADLSQTSLVLETSIAEQLQELPFTPLHAPIVVGTQTRSSAGQPSRASMVLLQSSGFPEILDANKQPAEAVSATEPVTFNPQKEESDCLQSNEMVLQFLAFSRVAQDCRGTSWPKTVYFTFQFYRFPPATTPRLQLVQLDEAGQPSSGALTHILVPVSRDGTFDAGSPGFQLRYMVGPGFLKPGERRCFARYLAVQTLQIDVWDGDSLLLIGSAAVQMKHLLRQGRPAVQASHELEVVATEYEQDNMVVSGDMLGFGRVKPIGVHSVVKGRLHLTLANVGHPCEQKVRGCSTLPPSRSRVISNDGASRFSGGSLLTTGSSRRKHVVQAQKLADVDSELAAMLLTHARQGKGPQDVSRESDATRRRKLERMRSVRLQEAGGDLGRRGTSVLAQQSVRTQHLRDLQVIAAYRERTKAESIASLLSLAITTEHTLHATLGVAEFFEFVLKNPHNTQHTVTVEIDNPELSVIVDSQEWRDFKGAAGLHTPVEEDMFHLRGSLAPQLYLRPHETAHVPFKFQSFSAGQLAMVQASPGLSNEKGMDAVSPWKSSAVPTKHAKVLFRASGGKPIAVLCLTVELQPHVVDQVFRFYHPELSFLKKAIRLPPWHTFPGAPVGMLGEDPPVHVRCSDPNVICETQNVGPGEPRDIFLKVASGPSPEIKDFFVIIYSDRWLATPTQTWQVYLHSLQRVDVSCVAGQLTRLSLVLRGTQTVRKVRAFTSHPQELKTDPKGVFVLPPRGVQDLHVGVRPLRAGSRFVHLNLVDVDCHQLVASWLVCLCCRQPLISKAFEIMLAAGEGKGVNKRITYTNPYPSRRTFHLHSDHPELLRFREDSFQVGGGETYTIGLQFAPSQRVGEEEILIYINDHEDKNEEAFCVKVIYQ", "length": 1426, "header": "sp|O75161-1|NPHP4_HUMAN Isoform 1 of Nephrocystin-4 OS=Homo sapiens OX=9606 GN=NPHP4 PE=1 SV=2 CANONICAL=O75161-1" }, "locus": { "chromosome": "1", "start_pos": 5986289, "end_pos": 5863268, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000378156.9", "url": "https://www.ensembl.org/id/ENST00000378156.9" }, { "database": "Ensembl Peptide", "id": "ENSP00000367398.4", "url": "https://www.ensembl.org/id/ENSP00000367398.4" } ] } }, { "isoform_ac": "O75161-2", "url": "", "sequence": { "sequence": "MNDWHRIFTQNVLVPPHPQRARQPWKESTAFQCVLKWLDGPVIRQGVLEVLSEVECHLRVSFFDVTYRHFFGRTWKTTVKPTKRPPSRIVFNEPLYFHTSLNHPHIVAVVEVVAEGKKRDGSLQTLSCGFGILRIFSNQPDSPISASQDKRLRLYHGTPRALLHPLLQDPAEQNRHMTLIENCSLQYTLKPHPALEPAFHLLPENLLVSGLQQIPGLLPAHGESGDALRKPRLQKPITGHLDDLFFTLYPSLEKFEEELLELHVQDHFQEGCGPLDGGALEILERRLRVGVHNGLGFVQRPQVVVLVPEMDVALTRSASFSRKVVSSSKTSSGSQALVLRSRLRLPEMVGHPAFAVIFQLEYVFSSPAGVDGNAASVTSLSNLACMHMVRWAVWNPLLEADSGRVTLPLQGGIQPNPSHCLVYKVPSASMSSEEVKQVESGTLRFQFSLGSEEHLDAPTEPVSGPKVERRPSRKPPTSPSSPPAPVPRVLAAPQNSPVGPGLSISQLAASPRSPTQHCLARPTSQLPHGSQASPAQAEFPLEAGISHLEADLSQTSLVLETSIAEQLQELPFTPLHAPIVVGTQTRSSAGQPSRASMVLLQSSGFPEILDANKQPAEAVSATEPVTFNPQKEESDCLQSNEMVLQFLAFSRVAQDCRGTSWPKTVYFTFQFYRFPPATTPRLQLVQLDEAGQPSSGALTHILVPVSRDGTFDAGSPGFQLRYMVGPGFLKPGERRCFARYLAVQTLQIDVWDGDSLLLIGSAAVQMKHLLRQGRPAVQASHELEVVATEYEQDNMVVSGDMLGFGRVKPIGVHSVVKGRLHLTLANVGHPCEQKVRGCSTLPPSRSRVISNDGASRFSGGSLLTTGSSRRWALQATVLFGEVGTLPVAFVSGWLLICKGRRNGEKVRRNID", "length": 911, "header": "sp|O75161-2|NPHP4_HUMAN Isoform 2 of Nephrocystin-4 OS=Homo sapiens OX=9606 GN=NPHP4 PE=1 SV=2 CANONICAL=O75161-1" }, "locus": { "chromosome": "1", "start_pos": 5986289, "end_pos": 5879508, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000622020.4", "url": "https://www.ensembl.org/id/ENST00000622020.4" }, { "database": "Ensembl Peptide", "id": "ENSP00000481831.2", "url": "https://www.ensembl.org/id/ENSP00000481831.2" } ] } } ], "glycosylation": [], "phosphorylation": [ { "start_pos": 142, "end_pos": 142, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O75161", "url": "https://www.uniprot.org/uniprot/O75161" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "O75161", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O75161" } ], "site_lbl": "Ser142" }, { "start_pos": 423, "end_pos": 423, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Tyr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O75161", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O75161" }, { "database": "PubMed", "id": "35494241", "url": "" } ], "site_lbl": "Tyr423" } ], "glycation": [], "keywords": [], "publication": [ { "title": "TAZ: a novel transcriptional co-activator regulated by interactions with 14-3-3 and PDZ domain proteins.", "journal": "The EMBO journal", "date": "2000", "authors": "Kanai F, Marignani PA, Sarbassova D, Yagi R, Hall RA, Donowitz M, Hisaminato A, Fujiwara T, Ito Y, Cantley LC, Yaffe MB", "evidence": [ { "database": "Reactome", "id": "R-HSA-2028269", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2028269" } ], "reference": [ { "type": "PubMed", "id": "11118213", "url": "https://glygen.org/publication/PubMed/11118213" } ] }, { "title": "MST, a physiological caspase substrate, highly sensitizes apoptosis both upstream and downstream of caspase activation.", "journal": "The Journal of biological chemistry", "date": "2001", "authors": "Lee KK, Ohyama T, Yajima N, Tsubuki S, Yonehara S", "evidence": [ { "database": "Reactome", "id": "R-HSA-2028269", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2028269" } ], "reference": [ { "type": "PubMed", "id": "11278283", "url": "https://glygen.org/publication/PubMed/11278283" } ] }, { "title": "A gene mutated in nephronophthisis and retinitis pigmentosa encodes a novel protein, nephroretinin, conserved in evolution.", "journal": "American journal of human genetics", "date": "2002", "authors": "Otto E, Hoefele J, Ruf R, Mueller AM, Hiller KS, Wolf MT, Schuermann MJ, Becker A, Birkenhager R, Sudbrak R, Hennies HC, Nurnberg P, Hildebrandt F", "evidence": [ { "database": "UniProtKB", "id": "O75161", "url": "https://www.uniprot.org/uniprot/O75161" }, { "database": "RefSeq", "id": "NP_001278522", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001278522" } ], "reference": [ { "type": "PubMed", "id": "12205563", "url": "https://glygen.org/publication/PubMed/12205563" } ] }, { "title": "The gene mutated in juvenile nephronophthisis type 4 encodes a novel protein that interacts with nephrocystin.", "journal": "Nature genetics", "date": "2002", "authors": "Mollet G, Salomon R, Gribouval O, Silbermann F, Bacq D, Landthaler G, Milford D, Nayir A, Rizzoni G, Antignac C, Saunier S", "evidence": [ { "database": "UniProtKB", "id": "O75161", "url": "https://www.uniprot.org/uniprot/O75161" }, { "database": "RefSeq", "id": "NP_001278522", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001278522" } ], "reference": [ { "type": "PubMed", "id": "12244321", "url": "https://glygen.org/publication/PubMed/12244321" } ] }, { "title": "Regulation of the MST1 kinase by autophosphorylation, by the growth inhibitory proteins, RASSF1 and NORE1, and by Ras.", "journal": "The Biochemical journal", "date": "2004", "authors": "Praskova M, Khoklatchev A, Ortiz-Vega S, Avruch J", "evidence": [ { "database": "Reactome", "id": "R-HSA-2028269", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2028269" } ], "reference": [ { "type": "PubMed", "id": "15109305", "url": "https://glygen.org/publication/PubMed/15109305" } ] }, { "title": "Characterization of the nephrocystin/nephrocystin-4 complex and subcellular localization of nephrocystin-4 to primary cilia and centrosomes.", "journal": "Hum. Mol. Genet.", "date": "2005", "authors": "Mollet G\u00e9raldine, Silbermann Flora, Delous Marion, Salomon R\u00e9mi, Antignac Corinne, Saunier Sophie", "evidence": [ { "database": "UniProtKB", "id": "O75161", "url": "https://www.uniprot.org/uniprot/O75161" } ], "reference": [ { "type": "PubMed", "id": "15661758", "url": "https://glygen.org/publication/PubMed/15661758" } ] }, { "title": "The Ste20-like kinase Mst2 activates the human large tumor suppressor kinase Lats1.", "journal": "Oncogene", "date": "2005", "authors": "Chan EH, Nousiainen M, Chalamalasetty RB, Schafer A, Nigg EA, Sillje HH", "evidence": [ { "database": "Reactome", "id": "R-HSA-2028269", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2028269" } ], "reference": [ { "type": "PubMed", "id": "15688006", "url": "https://glygen.org/publication/PubMed/15688006" } ] }, { "title": "Mutational analysis of the NPHP4 gene in 250 patients with nephronophthisis.", "journal": "Human mutation", "date": "2005", "authors": "Hoefele J, Sudbrak R, Reinhardt R, Lehrack S, Hennig S, Imm A, Muerb U, Utsch B, Attanasio M, O'Toole JF, Otto E, Hildebrandt F", "evidence": [ { "database": "UniProtKB", "id": "O75161", "url": "https://www.uniprot.org/uniprot/O75161" } ], "reference": [ { "type": "PubMed", "id": "15776426", "url": "https://glygen.org/publication/PubMed/15776426" } ] }, { "title": "Interaction of nephrocystin-4 and RPGRIP1 is disrupted by nephronophthisis or Leber congenital amaurosis-associated mutations.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2005", "authors": "Roepman R, Letteboer SJ, Arts HH, van Beersum SE, Lu X, Krieger E, Ferreira PA, Cremers FP", "evidence": [ { "database": "UniProtKB", "id": "O75161", "url": "https://www.uniprot.org/uniprot/O75161" } ], "reference": [ { "type": "PubMed", "id": "16339905", "url": "https://glygen.org/publication/PubMed/16339905" } ] }, { "title": "Tectonic, a novel regulator of the Hedgehog pathway required for both activation and inhibition.", "journal": "Genes & development", "date": "2006", "authors": "Reiter JF, Skarnes WC", "evidence": [ { "database": "Reactome", "id": "R-HSA-5620912", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5620912" } ], "reference": [ { "type": "PubMed", "id": "16357211", "url": "https://glygen.org/publication/PubMed/16357211" } ] }, { "title": "Association of mammalian sterile twenty kinases, Mst1 and Mst2, with hSalvador via C-terminal coiled-coil domains, leads to its stabilization and phosphorylation.", "journal": "The FEBS journal", "date": "2006", "authors": "Callus BA, Verhagen AM, Vaux DL", "evidence": [ { "database": "Reactome", "id": "R-HSA-2028269", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2028269" } ], "reference": [ { "type": "PubMed", "id": "16930133", "url": "https://glygen.org/publication/PubMed/16930133" } ] }, { "title": "Structural basis for protein-protein interactions in the 14-3-3 protein family.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2006", "authors": "Yang X, Lee WH, Sobott F, Papagrigoriou E, Robinson CV, Grossmann JG, Sundstrom M, Doyle DA, Elkins JM", "evidence": [ { "database": "Reactome", "id": "R-HSA-2028269", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2028269" } ], "reference": [ { "type": "PubMed", "id": "17085597", "url": "https://glygen.org/publication/PubMed/17085597" } ] }, { "title": "Mutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin-4 interactor, cause Joubert syndrome.", "journal": "Nature genetics", "date": "2007", "authors": "Arts HH, Doherty D, van Beersum SE, Parisi MA, Letteboer SJ, Gorden NT, Peters TA, Marker T, Voesenek K, Kartono A, Ozyurek H, Farin FM, Kroes HY, Wolfrum U, Brunner HG, Cremers FP, Glass IA, Knoers NV, Roepman R", "evidence": [ { "database": "UniProtKB", "id": "O75161", "url": "https://www.uniprot.org/uniprot/O75161" } ], "reference": [ { "type": "PubMed", "id": "17558407", "url": "https://glygen.org/publication/PubMed/17558407" } ] }, { "title": "A core complex of BBS proteins cooperates with the GTPase Rab8 to promote ciliary membrane biogenesis.", "journal": "Cell", "date": "2007", "authors": "Nachury MV, Loktev AV, Zhang Q, Westlake CJ, Peranen J, Merdes A, Slusarski DC, Scheller RH, Bazan JF, Sheffield VC, Jackson PK", "evidence": [ { "database": "Reactome", "id": "R-HSA-5620912", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5620912" } ], "reference": [ { "type": "PubMed", "id": "17574030", "url": "https://glygen.org/publication/PubMed/17574030" } ] }, { "title": "Functional dissection of Rab GTPases involved in primary cilium formation.", "journal": "The Journal of cell biology", "date": "2007", "authors": "Yoshimura S, Egerer J, Fuchs E, Haas AK, Barr FA", "evidence": [ { "database": "Reactome", "id": "R-HSA-5620912", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5620912" } ], "reference": [ { "type": "PubMed", "id": "17646400", "url": "https://glygen.org/publication/PubMed/17646400" } ] }, { "title": "Cep97 and CP110 suppress a cilia assembly program.", "journal": "Cell", "date": "2007", "authors": "Spektor A, Tsang WY, Khoo D, Dynlacht BD", "evidence": [ { "database": "Reactome", "id": "R-HSA-5620912", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5620912" } ], "reference": [ { "type": "PubMed", "id": "17719545", "url": "https://glygen.org/publication/PubMed/17719545" } ] }, { "title": "Inactivation of YAP oncoprotein by the Hippo pathway is involved in cell contact inhibition and tissue growth control.", "journal": "Genes & development", "date": "2007", "authors": "Zhao B, Wei X, Li W, Udan RS, Yang Q, Kim J, Xie J, Ikenoue T, Yu J, Li L, Zheng P, Ye K, Chinnaiyan A, Halder G, Lai ZC, Guan KL", "evidence": [ { "database": "Reactome", "id": "R-HSA-2028269", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2028269" } ], "reference": [ { "type": "PubMed", "id": "17974916", "url": "https://glygen.org/publication/PubMed/17974916" } ] }, { "title": "Mutations in TTBK2, encoding a kinase implicated in tau phosphorylation, segregate with spinocerebellar ataxia type 11.", "journal": "Nature genetics", "date": "2007", "authors": "Houlden H, Johnson J, Gardner-Thorpe C, Lashley T, Hernandez D, Worth P, Singleton AB, Hilton DA, Holton J, Revesz T, Davis MB, Giunti P, Wood NW", "evidence": [ { "database": "Reactome", "id": "R-HSA-5620912", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5620912" } ], "reference": [ { "type": "PubMed", "id": "18037885", "url": "https://glygen.org/publication/PubMed/18037885" } ] }, { "title": "Tumor suppressor LATS1 is a negative regulator of oncogene YAP.", "journal": "The Journal of biological chemistry", "date": "2008", "authors": "Hao Y, Chun A, Cheung K, Rashidi B, Yang X", "evidence": [ { "database": "Reactome", "id": "R-HSA-2028269", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2028269" } ], "reference": [ { "type": "PubMed", "id": "18158288", "url": "https://glygen.org/publication/PubMed/18158288" } ] }, { "title": "TAZ promotes cell proliferation and epithelial-mesenchymal transition and is inhibited by the hippo pathway.", "journal": "Molecular and cellular biology", "date": "2008", "authors": "Lei QY, Zhang H, Zhao B, Zha ZY, Bai F, Pei XH, Zhao S, Xiong Y, Guan KL", "evidence": [ { "database": "Reactome", "id": "R-HSA-2028269", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2028269" } ], "reference": [ { "type": "PubMed", "id": "18227151", "url": "https://glygen.org/publication/PubMed/18227151" } ] }, { "title": "MOBKL1A/MOBKL1B phosphorylation by MST1 and MST2 inhibits cell proliferation.", "journal": "Current biology : CB", "date": "2008", "authors": "Praskova M, Xia F, Avruch J", "evidence": [ { "database": "Reactome", "id": "R-HSA-2028269", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2028269" } ], "reference": [ { "type": "PubMed", "id": "18328708", "url": "https://glygen.org/publication/PubMed/18328708" } ] }, { "title": "CP110 suppresses primary cilia formation through its interaction with CEP290, a protein deficient in human ciliary disease.", "journal": "Developmental cell", "date": "2008", "authors": "Tsang WY, Bossard C, Khanna H, Peranen J, Swaroop A, Malhotra V, Dynlacht BD", "evidence": [ { "database": "Reactome", "id": "R-HSA-5620912", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5620912" } ], "reference": [ { "type": "PubMed", "id": "18694559", "url": "https://glygen.org/publication/PubMed/18694559" } ] }, { "title": "The TRAPP complex: insights into its architecture and function.", "journal": "Traffic (Copenhagen, Denmark)", "date": "2008", "authors": "Sacher M, Kim YG, Lavie A, Oh BH, Segev N", "evidence": [ { "database": "Reactome", "id": "R-HSA-5620912", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5620912" } ], "reference": [ { "type": "PubMed", "id": "18801063", "url": "https://glygen.org/publication/PubMed/18801063" } ] }, { "title": "C2cd3 is required for cilia formation and Hedgehog signaling in mouse.", "journal": "Development (Cambridge, England)", "date": "2008", "authors": "Hoover AN, Wynkoop A, Zeng H, Jia J, Niswander LA, Liu A", "evidence": [ { "database": "Reactome", "id": "R-HSA-5620912", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5620912" } ], "reference": [ { "type": "PubMed", "id": "19004860", "url": "https://glygen.org/publication/PubMed/19004860" } ] }, { "title": "A BBSome subunit links ciliogenesis, microtubule stability, and acetylation.", "journal": "Developmental cell", "date": "2008", "authors": "Loktev AV, Zhang Q, Beck JS, Searby CC, Scheetz TE, Bazan JF, Slusarski DC, Sheffield VC, Jackson PK, Nachury MV", "evidence": [ { "database": "Reactome", "id": "R-HSA-5620912", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5620912" } ], "reference": [ { "type": "PubMed", "id": "19081074", "url": "https://glygen.org/publication/PubMed/19081074" } ] }, { "title": "Nephrocystin-1 and nephrocystin-4 are required for epithelial morphogenesis and associate with PALS1/PATJ and Par6.", "journal": "Human molecular genetics", "date": "2009-12-15", "authors": "Delous Marion, Hellman Nathan E, Gaud\u00e9 Helori-Ma\u00ebl, Silbermann Flora, Le Bivic Andr\u00e9, Salomon R\u00e9mi, Antignac Corinne, Saunier Sophie", "evidence": [ { "database": "UniProtKB", "id": "O75161", "url": "https://www.uniprot.org/uniprot/O75161" } ], "reference": [ { "type": "PubMed", "id": "19755384", "url": "https://glygen.org/publication/PubMed/19755384" } ] }, { "title": "Nuclear-cytoplasmic shuttling of Chibby controls beta-catenin signaling.", "journal": "Molecular biology of the cell", "date": "2010", "authors": "Li FQ, Mofunanya A, Fischer V, Hall J, Takemaru K", "evidence": [ { "database": "Reactome", "id": "R-HSA-5620912", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5620912" } ], "reference": [ { "type": "PubMed", "id": "19940019", "url": "https://glygen.org/publication/PubMed/19940019" } ] }, { "title": "Ofd1, a human disease gene, regulates the length and distal structure of centrioles.", "journal": "Developmental cell", "date": "2010", "authors": "Singla V, Romaguera-Ros M, Garcia-Verdugo JM, Reiter JF", "evidence": [ { "database": "Reactome", "id": "R-HSA-5620912", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5620912" } ], "reference": [ { "type": "PubMed", "id": "20230748", "url": "https://glygen.org/publication/PubMed/20230748" } ] }, { "title": "Coordination of Rab8 and Rab11 in primary ciliogenesis.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2010", "authors": "Knodler A, Feng S, Zhang J, Zhang X, Das A, Peranen J, Guo W", "evidence": [ { "database": "Reactome", "id": "R-HSA-5620912", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5620912" } ], "reference": [ { "type": "PubMed", "id": "20308558", "url": "https://glygen.org/publication/PubMed/20308558" } ] }, { "title": "The ciliary membrane.", "journal": "Current opinion in cell biology", "date": "2010", "authors": "Rohatgi R, Snell WJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-5620912", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5620912" } ], "reference": [ { "type": "PubMed", "id": "20399632", "url": "https://glygen.org/publication/PubMed/20399632" } ] }, { "title": "The Hippo pathway regulates Wnt/beta-catenin signaling.", "journal": "Developmental cell", "date": "2010", "authors": "Varelas X, Miller BW, Sopko R, Song S, Gregorieff A, Fellouse FA, Sakuma R, Pawson T, Hunziker W, McNeill H, Wrana JL, Attisano L", "evidence": [ { "database": "Reactome", "id": "R-HSA-2028269", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2028269" } ], "reference": [ { "type": "PubMed", "id": "20412773", "url": "https://glygen.org/publication/PubMed/20412773" } ] }, { "title": "A septin diffusion barrier at the base of the primary cilium maintains ciliary membrane protein distribution.", "journal": "Science (New York, N.Y.)", "date": "2010", "authors": "Hu Q, Milenkovic L, Jin H, Scott MP, Nachury MV, Spiliotis ET, Nelson WJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-5620912", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5620912" } ], "reference": [ { "type": "PubMed", "id": "20558667", "url": "https://glygen.org/publication/PubMed/20558667" } ] }, { "title": "TAZ interacts with zonula occludens-1 and -2 proteins in a PDZ-1 dependent manner.", "journal": "FEBS letters", "date": "2010", "authors": "Remue E, Meerschaert K, Oka T, Boucherie C, Vandekerckhove J, Sudol M, Gettemans J", "evidence": [ { "database": "Reactome", "id": "R-HSA-2028269", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2028269" } ], "reference": [ { "type": "PubMed", "id": "20850437", "url": "https://glygen.org/publication/PubMed/20850437" } ] }, { "title": "Functional complexes between YAP2 and ZO-2 are PDZ domain-dependent, and regulate YAP2 nuclear localization and signalling.", "journal": "The Biochemical journal", "date": "2010", "authors": "Oka T, Remue E, Meerschaert K, Vanloo B, Boucherie C, Gfeller D, Bader GD, Sidhu SS, Vandekerckhove J, Gettemans J, Sudol M", "evidence": [ { "database": "Reactome", "id": "R-HSA-2028269", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2028269" } ], "reference": [ { "type": "PubMed", "id": "20868367", "url": "https://glygen.org/publication/PubMed/20868367" } ] }, { "title": "Angiomotin-like proteins associate with and negatively regulate YAP1.", "journal": "The Journal of biological chemistry", "date": "2011", "authors": "Wang W, Huang J, Chen J", "evidence": [ { "database": "Reactome", "id": "R-HSA-2028269", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2028269" } ], "reference": [ { "type": "PubMed", "id": "21187284", "url": "https://glygen.org/publication/PubMed/21187284" } ] }, { "title": "Angiomotin is a novel Hippo pathway component that inhibits YAP oncoprotein.", "journal": "Genes & development", "date": "2011", "authors": "Zhao B, Li L, Lu Q, Wang LH, Liu CY, Lei Q, Guan KL", "evidence": [ { "database": "Reactome", "id": "R-HSA-2028269", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2028269" } ], "reference": [ { "type": "PubMed", "id": "21205866", "url": "https://glygen.org/publication/PubMed/21205866" } ] }, { "title": "Hippo pathway-independent restriction of TAZ and YAP by angiomotin.", "journal": "The Journal of biological chemistry", "date": "2011", "authors": "Chan SW, Lim CJ, Chong YF, Pobbati AV, Huang C, Hong W", "evidence": [ { "database": "Reactome", "id": "R-HSA-2028269", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2028269" } ], "reference": [ { "type": "PubMed", "id": "21224387", "url": "https://glygen.org/publication/PubMed/21224387" } ] }, { "title": "Evidence for RPGRIP1 gene as risk factor for primary open angle glaucoma.", "journal": "Eur. J. Hum. Genet.", "date": "2011", "authors": "Fernandez-Martinez L, Letteboer S, Mardin CY, Weisschuh N, Gramer E, Weber BH, Rautenstrauss B, Ferreira PA, Kruse FE, Reis A, Roepman R, Pasutto F", "evidence": [ { "database": "UniProtKB", "id": "O75161", "url": "https://www.uniprot.org/uniprot/O75161" } ], "reference": [ { "type": "PubMed", "id": "21224891", "url": "https://glygen.org/publication/PubMed/21224891" } ] }, { "title": "KIBRA regulates Hippo signaling activity via interactions with large tumor suppressor kinases.", "journal": "The Journal of biological chemistry", "date": "2011", "authors": "Xiao L, Chen Y, Ji M, Dong J", "evidence": [ { "database": "Reactome", "id": "R-HSA-2028269", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2028269" } ], "reference": [ { "type": "PubMed", "id": "21233212", "url": "https://glygen.org/publication/PubMed/21233212" } ] }, { "title": "TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum.", "journal": "Nature genetics", "date": "2011", "authors": "Davis EE, Zhang Q, Liu Q, Diplas BH, Davey LM, Hartley J, Stoetzel C, Szymanska K, Ramaswami G, Logan CV, Muzny DM, Young AC, Wheeler DA, Cruz P, Morgan M, Lewis LR, Cherukuri P, Maskeri B, Hansen NF, Mullikin JC, Blakesley RW, Bouffard GG, Gyapay G, Rieger S, Tonshoff B, Kern I, Soliman NA, Neuhaus TJ, Swoboda KJ, Kayserili H, Gallagher TE, Lewis RA, Bergmann C, Otto EA, Saunier S, Scambler PJ, Beales PL, Gleeson JG, Maher ER, Attie-Bitach T, Dollfus H, Johnson CA, Green ED, Gibbs RA, Hildebrandt F, Pierce EA, Katsanis N", "evidence": [ { "database": "UniProtKB", "id": "O75161", "url": "https://www.uniprot.org/uniprot/O75161" } ], "reference": [ { "type": "PubMed", "id": "21258341", "url": "https://glygen.org/publication/PubMed/21258341" } ] }, { "title": "Primary cilia membrane assembly is initiated by Rab11 and transport protein particle II (TRAPPII) complex-dependent trafficking of Rabin8 to the centrosome.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2011", "authors": "Westlake CJ, Baye LM, Nachury MV, Wright KJ, Ervin KE, Phu L, Chalouni C, Beck JS, Kirkpatrick DS, Slusarski DC, Sheffield VC, Scheller RH, Jackson PK", "evidence": [ { "database": "Reactome", "id": "R-HSA-5620912", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5620912" } ], "reference": [ { "type": "PubMed", "id": "21273506", "url": "https://glygen.org/publication/PubMed/21273506" } ] }, { "title": "MKS and NPHP modules cooperate to establish basal body/transition zone membrane associations and ciliary gate function during ciliogenesis.", "journal": "The Journal of cell biology", "date": "2011", "authors": "Williams CL, Li C, Kida K, Inglis PN, Mohan S, Semenec L, Bialas NJ, Stupay RM, Chen N, Blacque OE, Yoder BK, Leroux MR", "evidence": [ { "database": "Reactome", "id": "R-HSA-5620912", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5620912" } ], "reference": [ { "type": "PubMed", "id": "21422230", "url": "https://glygen.org/publication/PubMed/21422230" } ] }, { "title": "Control of the Wnt pathways by nephrocystin-4 is required for morphogenesis of the zebrafish pronephros.", "journal": "Human molecular genetics", "date": "2011-07-01", "authors": "Burckl\u00e9 C\u00e9line, Gaud\u00e9 Helori-Mael, Vesque Christine, Silbermann Flora, Salomon R\u00e9mi, Jeanpierre C\u00e9cile, Antignac Corinne, Saunier Sophie, Schneider-Maunoury Sylvie", "evidence": [ { "database": "UniProtKB", "id": "O75161", "url": "https://www.uniprot.org/uniprot/O75161" } ], "reference": [ { "type": "PubMed", "id": "21498478", "url": "https://glygen.org/publication/PubMed/21498478" } ] }, { "title": "Assessing the pathogenic potential of human Nephronophthisis disease-associated NPHP-4 missense mutations in C. elegans.", "journal": "Human molecular genetics", "date": "2011", "authors": "Masyukova SV, Winkelbauer ME, Williams CL, Pieczynski JN, Yoder BK", "evidence": [ { "database": "UniProtKB", "id": "O75161", "url": "https://www.uniprot.org/uniprot/O75161" } ], "reference": [ { "type": "PubMed", "id": "21546380", "url": "https://glygen.org/publication/PubMed/21546380" } ] }, { "title": "TTBK2 kinase substrate specificity and the impact of spinocerebellar-ataxia-causing mutations on expression, activity, localization and development.", "journal": "The Biochemical journal", "date": "2011", "authors": "Bouskila M, Esoof N, Gay L, Fang EH, Deak M, Begley MJ, Cantley LC, Prescott A, Storey KG, Alessi DR", "evidence": [ { "database": "Reactome", "id": "R-HSA-5620912", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5620912" } ], "reference": [ { "type": "PubMed", "id": "21548880", "url": "https://glygen.org/publication/PubMed/21548880" } ] }, { "title": "NPHP4, a cilia-associated protein, negatively regulates the Hippo pathway.", "journal": "The Journal of cell biology", "date": "2011", "authors": "Habbig S, Bartram MP, Muller RU, Schwarz R, Andriopoulos N, Chen S, Sagmuller JG, Hoehne M, Burst V, Liebau MC, Reinhardt HC, Benzing T, Schermer B", "evidence": [ { "database": "UniProtKB", "id": "O75161", "url": "https://www.uniprot.org/uniprot/O75161" }, { "database": "Reactome", "id": "R-HSA-2028269", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2028269" } ], "reference": [ { "type": "PubMed", "id": "21555462", "url": "https://glygen.org/publication/PubMed/21555462" } ] }, { "title": "Mapping the NPHP-JBTS-MKS protein network reveals ciliopathy disease genes and pathways.", "journal": "Cell", "date": "2011", "authors": "Sang L, Miller JJ, Corbit KC, Giles RH, Brauer MJ, Otto EA, Baye LM, Wen X, Scales SJ, Kwong M, Huntzicker EG, Sfakianos MK, Sandoval W, Bazan JF, Kulkarni P, Garcia-Gonzalo FR, Seol AD, O'Toole JF, Held S, Reutter HM, Lane WS, Rafiq MA, Noor A, Ansar M, Devi AR, Sheffield VC, Slusarski DC, Vincent JB, Doherty DA, Hildebrandt F, Reiter JF, Jackson PK", "evidence": [ { "database": "UniProtKB", "id": "O75161", "url": "https://www.uniprot.org/uniprot/O75161" }, { "database": "Reactome", "id": "R-HSA-5620912", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5620912" } ], "reference": [ { "type": "PubMed", "id": "21565611", "url": "https://glygen.org/publication/PubMed/21565611" } ] }, { "title": "Centriolar kinesin Kif24 interacts with CP110 to remodel microtubules and regulate ciliogenesis.", "journal": "Cell", "date": "2011", "authors": "Kobayashi T, Tsang WY, Li J, Lane W, Dynlacht BD", "evidence": [ { "database": "Reactome", "id": "R-HSA-5620912", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5620912" } ], "reference": [ { "type": "PubMed", "id": "21620453", "url": "https://glygen.org/publication/PubMed/21620453" } ] }, { "title": "A transition zone complex regulates mammalian ciliogenesis and ciliary membrane composition.", "journal": "Nature genetics", "date": "2011", "authors": "Garcia-Gonzalo FR, Corbit KC, Sirerol-Piquer MS, Ramaswami G, Otto EA, Noriega TR, Seol AD, Robinson JF, Bennett CL, Josifova DJ, Garcia-Verdugo JM, Katsanis N, Hildebrandt F, Reiter JF", "evidence": [ { "database": "Reactome", "id": "R-HSA-5620912", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5620912" } ], "reference": [ { "type": "PubMed", "id": "21725307", "url": "https://glygen.org/publication/PubMed/21725307" } ] }, { "title": "Transition zone proteins and cilia dynamics.", "journal": "Nature genetics", "date": "2011", "authors": "Benzing T, Schermer B", "evidence": [ { "database": "Reactome", "id": "R-HSA-5620912", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5620912" } ], "reference": [ { "type": "PubMed", "id": "21792235", "url": "https://glygen.org/publication/PubMed/21792235" } ] }, { "title": "Angiomotin family proteins are novel activators of the LATS2 kinase tumor suppressor.", "journal": "Molecular biology of the cell", "date": "2011", "authors": "Paramasivam M, Sarkeshik A, Yates JR 3rd, Fernandes MJ, McCollum D", "evidence": [ { "database": "Reactome", "id": "R-HSA-2028269", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2028269" } ], "reference": [ { "type": "PubMed", "id": "21832154", "url": "https://glygen.org/publication/PubMed/21832154" } ] }, { "title": "A ciliopathy complex at the transition zone protects the cilia as a privileged membrane domain.", "journal": "Nature cell biology", "date": "2011", "authors": "Chih B, Liu P, Chinn Y, Chalouni C, Komuves LG, Hass PE, Sandoval W, Peterson AS", "evidence": [ { "database": "Reactome", "id": "R-HSA-5620912", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5620912" } ], "reference": [ { "type": "PubMed", "id": "22179047", "url": "https://glygen.org/publication/PubMed/22179047" } ] }, { "title": "A Rab8 guanine nucleotide exchange factor-effector interaction network regulates primary ciliogenesis.", "journal": "The Journal of biological chemistry", "date": "2012", "authors": "Feng S, Knodler A, Ren J, Zhang J, Zhang X, Hong Y, Huang S, Peranen J, Guo W", "evidence": [ { "database": "Reactome", "id": "R-HSA-5620912", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5620912" } ], "reference": [ { "type": "PubMed", "id": "22433857", "url": "https://glygen.org/publication/PubMed/22433857" } ] }, { "title": "NPHP4 variants are associated with pleiotropic heart malformations.", "journal": "Circulation research", "date": "2012", "authors": "French VM, van de Laar IM, Wessels MW, Rohe C, Roos-Hesselink JW, Wang G, Frohn-Mulder IM, Severijnen LA, de Graaf BM, Schot R, Breedveld G, Mientjes E, van Tienhoven M, Jadot E, Jiang Z, Verkerk A, Swagemakers S, Venselaar H, Rahimi Z, Najmabadi H, Meijers-Heijboer H, de Graaff E, Helbing WA, Willemsen R, Devriendt K, Belmont JW, Oostra BA, Amack JD, Bertoli-Avella AM", "evidence": [ { "database": "UniProtKB", "id": "O75161", "url": "https://www.uniprot.org/uniprot/O75161" } ], "reference": [ { "type": "PubMed", "id": "22550138", "url": "https://glygen.org/publication/PubMed/22550138" } ] }, { "title": "The base of the cilium: roles for transition fibres and the transition zone in ciliary formation, maintenance and compartmentalization.", "journal": "EMBO reports", "date": "2012", "authors": "Reiter JF, Blacque OE, Leroux MR", "evidence": [ { "database": "Reactome", "id": "R-HSA-5620912", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5620912" } ], "reference": [ { "type": "PubMed", "id": "22653444", "url": "https://glygen.org/publication/PubMed/22653444" } ] }, { "title": "The ciliary protein nephrocystin-4 translocates the canonical Wnt regulator Jade-1 to the nucleus to negatively regulate \u03b2-catenin signaling.", "journal": "The Journal of biological chemistry", "date": "2012-07-20", "authors": "Borgal Lori, Habbig Sandra, Hatzold Julia, Liebau Max C, Dafinger Claudia, Sacarea Ilinca, Hammerschmidt Matthias, Benzing Thomas, Schermer Bernhard", "evidence": [ { "database": "UniProtKB", "id": "O75161", "url": "https://www.uniprot.org/uniprot/O75161" } ], "reference": [ { "type": "PubMed", "id": "22654112", "url": "https://glygen.org/publication/PubMed/22654112" } ] }, { "title": "Exome capture reveals ZNF423 and CEP164 mutations, linking renal ciliopathies to DNA damage response signaling.", "journal": "Cell", "date": "2012", "authors": "Chaki M, Airik R, Ghosh AK, Giles RH, Chen R, Slaats GG, Wang H, Hurd TW, Zhou W, Cluckey A, Gee HY, Ramaswami G, Hong CJ, Hamilton BA, Cervenka I, Ganji RS, Bryja V, Arts HH, van Reeuwijk J, Oud MM, Letteboer SJ, Roepman R, Husson H, Ibraghimov-Beskrovnaya O, Yasunaga T, Walz G, Eley L, Sayer JA, Schermer B, Liebau MC, Benzing T, Le Corre S, Drummond I, Janssen S, Allen SJ, Natarajan S, O'Toole JF, Attanasio M, Saunier S, Antignac C, Koenekoop RK, Ren H, Lopez I, Nayir A, Stoetzel C, Dollfus H, Massoudi R, Gleeson JG, Andreoli SP, Doherty DG, Lindstrad A, Golzio C, Katsanis N, Pape L, Abboud EB, Al-Rajhi AA, Lewis RA, Omran H, Lee EY, Wang S, Sekiguchi JM, Saunders R, Johnson CA, Garner E, Vanselow K, Andersen JS, Shlomai J, Nurnberg G, Nurnberg P, Levy S, Smogorzewska A, Otto EA, Hildebrandt F", "evidence": [ { "database": "UniProtKB", "id": "O75161", "url": "https://www.uniprot.org/uniprot/O75161" } ], "reference": [ { "type": "PubMed", "id": "22863007", "url": "https://glygen.org/publication/PubMed/22863007" } ] }, { "title": "TTBK2 kinase: linking primary cilia and cerebellar ataxias.", "journal": "Cell", "date": "2012", "authors": "Jackson PK", "evidence": [ { "database": "Reactome", "id": "R-HSA-5620912", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5620912" } ], "reference": [ { "type": "PubMed", "id": "23141531", "url": "https://glygen.org/publication/PubMed/23141531" } ] }, { "title": "The spinocerebellar ataxia-associated gene Tau tubulin kinase 2 controls the initiation of ciliogenesis.", "journal": "Cell", "date": "2012", "authors": "Goetz SC, Liem KF Jr, Anderson KV", "evidence": [ { "database": "Reactome", "id": "R-HSA-5620912", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5620912" } ], "reference": [ { "type": "PubMed", "id": "23141541", "url": "https://glygen.org/publication/PubMed/23141541" } ] }, { "title": "Toward a comprehensive characterization of a human cancer cell phosphoproteome.", "journal": "Journal of proteome research", "date": "2013", "authors": "Zhou H, Di Palma S, Preisinger C, Peng M, Polat AN, Heck AJ, Mohammed S", "evidence": [ { "database": "UniProtKB", "id": "O75161", "url": "https://www.uniprot.org/uniprot/O75161" }, { "database": "iPTMnet", "id": "O75161", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O75161" } ], "reference": [ { "type": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" } ] }, { "title": "Cep164 mediates vesicular docking to the mother centriole during early steps of ciliogenesis.", "journal": "The Journal of cell biology", "date": "2012", "authors": "Schmidt KN, Kuhns S, Neuner A, Hub B, Zentgraf H, Pereira G", "evidence": [ { "database": "Reactome", "id": "R-HSA-5620912", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5620912" } ], "reference": [ { "type": "PubMed", "id": "23253480", "url": "https://glygen.org/publication/PubMed/23253480" } ] }, { "title": "Centriole distal appendages promote membrane docking, leading to cilia initiation.", "journal": "Genes & development", "date": "2013", "authors": "Tanos BE, Yang HJ, Soni R, Wang WJ, Macaluso FP, Asara JM, Tsou MF", "evidence": [ { "database": "Reactome", "id": "R-HSA-5620912", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5620912" } ], "reference": [ { "type": "PubMed", "id": "23348840", "url": "https://glygen.org/publication/PubMed/23348840" } ] }, { "title": "The microtubule affinity regulating kinase MARK4 promotes axoneme extension during early ciliogenesis.", "journal": "The Journal of cell biology", "date": "2013", "authors": "Kuhns S, Schmidt KN, Reymann J, Gilbert DF, Neuner A, Hub B, Carvalho R, Wiedemann P, Zentgraf H, Erfle H, Klingmuller U, Boutros M, Pereira G", "evidence": [ { "database": "Reactome", "id": "R-HSA-5620912", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5620912" } ], "reference": [ { "type": "PubMed", "id": "23400999", "url": "https://glygen.org/publication/PubMed/23400999" } ] }, { "title": "CCDC41 is required for ciliary vesicle docking to the mother centriole.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2013", "authors": "Joo K, Kim CG, Lee MS, Moon HY, Lee SH, Kim MJ, Kweon HS, Park WY, Kim CH, Gleeson JG, Kim J", "evidence": [ { "database": "Reactome", "id": "R-HSA-5620912", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5620912" } ], "reference": [ { "type": "PubMed", "id": "23530209", "url": "https://glygen.org/publication/PubMed/23530209" } ] }, { "title": "NPHP4 mutation is linked to cerebello-oculo-renal syndrome and male infertility.", "journal": "Clin. Genet.", "date": "2014", "authors": "Alazami A M, Alshammari M J, Baig M, Salih M A, Hassan H H, Alkuraya F S", "evidence": [ { "database": "UniProtKB", "id": "O75161", "url": "https://www.uniprot.org/uniprot/O75161" } ], "reference": [ { "type": "PubMed", "id": "23574405", "url": "https://glygen.org/publication/PubMed/23574405" } ] }, { "title": "Assembling a primary cilium.", "journal": "Current opinion in cell biology", "date": "2013", "authors": "Kim S, Dynlacht BD", "evidence": [ { "database": "Reactome", "id": "R-HSA-5620912", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5620912" } ], "reference": [ { "type": "PubMed", "id": "23747070", "url": "https://glygen.org/publication/PubMed/23747070" } ] }, { "title": "Discovering regulators of centriole biogenesis through siRNA-based functional genomics in human cells.", "journal": "Developmental cell", "date": "2013", "authors": "Balestra FR, Strnad P, Fluckiger I, Gonczy P", "evidence": [ { "database": "Reactome", "id": "R-HSA-5620912", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5620912" } ], "reference": [ { "type": "PubMed", "id": "23769972", "url": "https://glygen.org/publication/PubMed/23769972" } ] }, { "title": "Primary ciliogenesis requires the distal appendage component Cep123.", "journal": "Biology open", "date": "2013", "authors": "Sillibourne JE, Hurbain I, Grand-Perret T, Goud B, Tran P, Bornens M", "evidence": [ { "database": "Reactome", "id": "R-HSA-5620912", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5620912" } ], "reference": [ { "type": "PubMed", "id": "23789104", "url": "https://glygen.org/publication/PubMed/23789104" } ] }, { "title": "CP110 and its network of partners coordinately regulate cilia assembly.", "journal": "Cilia", "date": "2013", "authors": "Tsang WY, Dynlacht BD", "evidence": [ { "database": "Reactome", "id": "R-HSA-5620912", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5620912" } ], "reference": [ { "type": "PubMed", "id": "24053599", "url": "https://glygen.org/publication/PubMed/24053599" } ] }, { "title": "Autophagy promotes primary ciliogenesis by removing OFD1 from centriolar satellites.", "journal": "Nature", "date": "2013", "authors": "Tang Z, Lin MG, Stowe TR, Chen S, Zhu M, Stearns T, Franco B, Zhong Q", "evidence": [ { "database": "Reactome", "id": "R-HSA-5620912", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5620912" } ], "reference": [ { "type": "PubMed", "id": "24089205", "url": "https://glygen.org/publication/PubMed/24089205" } ] }, { "title": "Transition fibre protein FBF1 is required for the ciliary entry of assembled intraflagellar transport complexes.", "journal": "Nature communications", "date": "2013", "authors": "Wei Q, Xu Q, Zhang Y, Li Y, Zhang Q, Hu Z, Harris PC, Torres VE, Ling K, Hu J", "evidence": [ { "database": "Reactome", "id": "R-HSA-5620912", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5620912" } ], "reference": [ { "type": "PubMed", "id": "24231678", "url": "https://glygen.org/publication/PubMed/24231678" } ] }, { "title": "C2cd3 is critical for centriolar distal appendage assembly and ciliary vesicle docking in mammals.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2014", "authors": "Ye X, Zeng H, Ning G, Reiter JF, Liu A", "evidence": [ { "database": "Reactome", "id": "R-HSA-5620912", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5620912" } ], "reference": [ { "type": "PubMed", "id": "24469809", "url": "https://glygen.org/publication/PubMed/24469809" } ] }, { "title": "Cep164 triggers ciliogenesis by recruiting Tau tubulin kinase 2 to the mother centriole.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2014", "authors": "Cajanek L, Nigg EA", "evidence": [ { "database": "Reactome", "id": "R-HSA-5620912", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5620912" } ], "reference": [ { "type": "PubMed", "id": "24982133", "url": "https://glygen.org/publication/PubMed/24982133" } ] }, { "title": "Centriole structure.", "journal": "Philosophical transactions of the Royal Society of London. Series B, Biological sciences", "date": "2014", "authors": "Winey M, O'Toole E", "evidence": [ { "database": "Reactome", "id": "R-HSA-5620912", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5620912" } ], "reference": [ { "type": "PubMed", "id": "25047611", "url": "https://glygen.org/publication/PubMed/25047611" } ] }, { "title": "Chibby promotes ciliary vesicle formation and basal body docking during airway cell differentiation.", "journal": "The Journal of cell biology", "date": "2014", "authors": "Burke MC, Li FQ, Cyge B, Arashiro T, Brechbuhl HM, Chen X, Siller SS, Weiss MA, O'Connell CB, Love D, Westlake CJ, Reynolds SD, Kuriyama R, Takemaru K", "evidence": [ { "database": "Reactome", "id": "R-HSA-5620912", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5620912" } ], "reference": [ { "type": "PubMed", "id": "25313408", "url": "https://glygen.org/publication/PubMed/25313408" } ] }, { "title": "C21orf2 is mutated in recessive early-onset retinal dystrophy with macular staphyloma and encodes a protein that localises to the photoreceptor primary cilium.", "journal": "Br. J. Ophthalmol.", "date": "2015", "authors": "Khan AO, Eisenberger T, Nagel-Wolfrum K, Wolfrum U, Bolz HJ", "evidence": [ { "database": "UniProtKB", "id": "O75161", "url": "https://www.uniprot.org/uniprot/O75161" } ], "reference": [ { "type": "PubMed", "id": "26294103", "url": "https://glygen.org/publication/PubMed/26294103" } ] }, { "title": "The polarity protein Inturned links NPHP4 to Daam1 to control the subapical actin network in multiciliated cells.", "journal": "J. Cell Biol.", "date": "2015", "authors": "Yasunaga Takayuki, Hoff Sylvia, Schell Christoph, Helmst\u00e4dter Martin, Kretz Oliver, Kuechlin Sebastian, Yakulov Toma A, Engel Christina, M\u00fcller Barbara, Bensch Robert, Ronneberger Olaf, Huber Tobias B, Lienkamp Soeren S, Walz Gerd", "evidence": [ { "database": "UniProtKB", "id": "O75161", "url": "https://www.uniprot.org/uniprot/O75161" } ], "reference": [ { "type": "PubMed", "id": "26644512", "url": "https://glygen.org/publication/PubMed/26644512" } ] }, { "title": "SENIOR-LOKEN SYNDROME: A Case Series and Review of the Renoretinal Phenotype and Advances of Molecular Diagnosis.", "journal": "Retina (Philadelphia, Pa.)", "date": "2021", "authors": "Yahalom C, Volovelsky O, Macarov M, Altalbishi A, Alsweiti Y, Schneider N, Hanany M, Khan MI, Cremers FPM, Anteby I, Banin E, Sharon D, Khateb S", "evidence": [ { "database": "RefSeq", "id": "NP_001278522", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001278522" } ], "reference": [ { "type": "PubMed", "id": "33512896", "url": "https://glygen.org/publication/PubMed/33512896" } ] }, { "title": "Association of Nephronophthisis 4 genetic variation with cardiorenal syndrome and cardiovascular events in Japanese general population: the Yamagata (Takahata) study.", "journal": "Heart and vessels", "date": "2022", "authors": "Otaki Y, Watanabe T, Sato J, Kobayashi Y, Aono T, Saito Y, Goto J, Takahashi H, Arimoto T, Sato H, Konta T, Ueno Y, Watanabe M", "evidence": [ { "database": "RefSeq", "id": "NP_001278522", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001278522" } ], "reference": [ { "type": "PubMed", "id": "34591160", "url": "https://glygen.org/publication/PubMed/34591160" } ] }, { "title": "A novel NPHP4 homozygous missense variant identified in infertile brothers with multiple morphological abnormalities of the sperm flagella.", "journal": "Journal of assisted reproduction and genetics", "date": "2024-01", "authors": "Ali Asim, Unar Ahsanullah, Muhammad Zubair, Dil Sobia, Zhang Beibei, Sadaf Humaira, Khan Manan, Ali Muhammad, Khan Ranjha, Shah Kakakhel Mian Basit, Ma Ao, Jiang Xiaohua, Zhang Yuanwei, Zhang Huan, Shi Qinghua", "evidence": [ { "database": "RefSeq", "id": "NP_001278522", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001278522" } ], "reference": [ { "type": "PubMed", "id": "37831349", "url": "https://glygen.org/publication/PubMed/37831349" } ] }, { "title": "The Ste20-like protein kinase, Mst1, dimerizes and contains an inhibitory domain.", "journal": "The Journal of biological chemistry", "date": "1996", "authors": "Creasy CL, Ambrose DM, Chernoff J", "evidence": [ { "database": "Reactome", "id": "R-HSA-2028269", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2028269" } ], "reference": [ { "type": "PubMed", "id": "8702870", "url": "https://glygen.org/publication/PubMed/8702870" } ] }, { "title": "Caspase-mediated activation and induction of apoptosis by the mammalian Ste20-like kinase Mst1.", "journal": "The EMBO journal", "date": "1998", "authors": "Graves JD, Gotoh Y, Draves KE, Ambrose D, Han DK, Wright M, Chernoff J, Clark EA, Krebs EG", "evidence": [ { "database": "Reactome", "id": "R-HSA-2028269", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2028269" } ], "reference": [ { "type": "PubMed", "id": "9545236", "url": "https://glygen.org/publication/PubMed/9545236" } ] } ], "pathway": [ { "id": "R-HSA-2028269", "name": "Signaling by Hippo", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2028269", "resource": "Reactome", "description": "Signaling by Hippo" }, { "id": "R-HSA-5620912", "name": "Anchoring of the basal body to the plasma membrane", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5620912", "resource": "Reactome", "description": "Anchoring of the basal body to the plasma membrane" } ], "orthologs": [ { "uniprot_canonical_ac": "G3V9Y6-1", "protein_name": "Nephrocystin 4", "gene_name": "Nphp4", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "MDDWHRAFTQNTLVPPHPQRARQFGKESTAFQCILKWLDGPLIKQGILDMLSELECHLRVSLFDVTYKHFFGRTWKTTVKPTNQLSKQPPRILFNEPLYFHTTLSHPSIVAVIEVVAEGRKRDGALQVLSCGFGILRIFGNKPESPTSAGQDKRLRLYHGTPRALLHPLLQDPIEQNRYMTMMENCSLQYTLKPHPPLEPAFHLLPENFLISGLQQIPGLLPPHGDTGDALRKPRFQKPTTLHLDDLFFTLYPSLEKFEEELVQLLISDHFREGVGLLDSGTLEVLERRLHVCVHNGLGFVHRPQVVVLVPEMDMTLTRSASFSRRITASSKSSSGNQALVLRSHLRLPEMVNHPSFAIVFQLEYVFNSPSGADGSASSSTSLSSLACMHMVRWAVWNPDLEAGPGKVTLPLQGGVQHNPSRCLVYKVPSASMSSEEVKQVESGTIQFHFSLSSDALTEHANGPRAGRRSTRKALTSPSGTPALAARDLAAIQDSPVGPGLSLSQLAASPQSLASQRSFKPPPQPLDGSQSPEGPQLQAGSVLESRISHLEADLSQPPFSVQGTPTVEHLQELPFTPLHAPIVVGAQTRSSRSQLSRAAMVLLQSSGFPEILDARQQPVEAVNPMDPVRFNPQKEESDCLLGNEIVLQFLAFSRAAQDCPGAPWPQTVYFTFQFYRFPPETTPRLQLVKLDRTGKNGSASLSHILVHINKDGSFDAGSPGFQLRYMVDPGFLKPGEQRWFAQYLAAQTLQVDVWDGDSLLLIGSAGIQMKHLLRQGRPAVQVSHELEVVATEYEQEMMVVSGDVAGFGSVKPIGVHTVVKGRLHLTLANVGHECEPRARGSNALPPSRSRVISNNGASFFSGGSLLIPGGPKRKRVVQAQKLADVDSELAAMLLTHTRAGQGPQAVGQEADAVHRRKLERMRLVRLQEAGGDSDSRRISVLARHSVRAQHSRDLQVIDAYRERTKAENIASVLSQAITTHHTLYATLGTAEFFEFALKNPHNTQHTVAIEIDSPELSIILDSQEWRYFKEATGLLTPLEEDMFHLRGSLAPQLYLRPRETAHIPFKFQNFSVGPPAPTQAPAEVISEKDAESGPHWKCSAMPTKHAKVLFRVETGQLIAVLCLTVEPQPHVVDQVFRFYHPELTFLKKAIRLPPWHTLPGAPVGMPGEDPPVHVRCSDPNVICEAQNVGLGEPRDVFLKVASGPSPEIKDFFVVIYADRWLAVPVQTWQVCLHSLQRVDVSCVAGQMTRLSLVLRGTQTVRKVRAFTSHPQELKTDPAGVFVLPPHGVQDLHVGVRPRRAGSRFIHLNLVDVDYHQLVASWLVCLSCRQPLISKAFEITMAAGEGKGANKRITYTNPYPSRRTYRLHSDRPDLLHFKEDSFQVAGGETYTIGLRFLPSGSAGQEEILIYINDQDDKNEETFCVKVLYQ", "length": 1428 }, "evidence": [ { "id": "45921725", "url": "http://www.informatics.jax.org/homology/45921725", "database": "MGI" }, { "id": "O75161", "url": "https://omabrowser.org/oma/group/O75161/", "database": "OMA" } ], "common_name": "Rat" }, { "uniprot_canonical_ac": "P59240-1", "protein_name": "Nephrocystin-4", "gene_name": "Nphp4", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MGDWHRAFTQNTLVPPHPQRARQLGKESTAFQCILKWLDGPLIKQGILDMLSELECHLRVTLFDVTYKHFFGRTWKTTVKPTNQPSKQPPRITFNEPLYFHTTLSHPSIVAVVEVVTEGRKRDGTLQLLSCGFGILRIFGNKPESPTSAAQDKRLRLYHGTPRALLHPLLQDPIEQNKFMRLMENCSLQYTLKPHPPLEPAFHLLPENLLVSGFQQIPGLLPPHGDTGDALRKPRFQKPTTWHLDDLFFTLYPSLEKFEEELVQLLISDREGVGLLDSGTLEVLERRLHVCVHNGLGFVQRPQVVVLVPEMDVALTRSASFSRKISASSKNSSGNQALVLRSHLRLPEMVSHPAFAIVFQLEYVFNSPSGADGGASSPTSISSVACMHMVRWAVWNPDLEVGPGKVTLPLQGGVQQNPSRCLVYKVPSASMSSEEVKQVESGTIQFQFSLSSDGPTEHANGPRVGRRSSRKMPASPSGTPAPAARDLAATQDSPVGPGLSLSQLTASPLSPALQSSSKPPLQPPDSSQSPEGPQLQAESVLESRVSHLEADLSQPASLQGTPAVEHLQELPFTPLHAPIVVGAQTRSSRSQLSRAAMVLLQSSGFPEILDASQQPVEAVNPIDPVRFNPQKEESDCLRGNEIVLQFLAFSRAAQDCPGTPWPQTVYFTFQFYRFPPETTPRLQLVKLDGTGKSGSGSLSHILVPINKDGSFDAGSPGLQLRYMVDPGFLKPGEQRWFAHYLAAQTLQVDVWDGDSLLLIGSAGVQMKHLLRQGRPAVQVSHELEVVATEYEQEMMAVSGDVAGFGSVKPIGVHTVVKGRLHLTLANVGHACEPRARGSNLLPPSRSRVISNDGASFFSGGSLLIPGGPKRKRVVQAQRLADVDSELAAMLLTHTRAGQGPQAAGQEADAVHKRKLERMRLVRLQEAGGDSDSRRISLLAQHSVRAQHSRDLQVIDAYRERTKAESIAGVLSQAITTHHTLYATLGTAEFFEFALKNPHNTQHTVAIEIDSPELSIILDSQEWRYFKEATGLHTPLEEDMFHLRGSLAPQLYLRPRETAHIPLKFQSFSVGPLAPTQAPAEVITEKDAESGPLWKCSAMPTKHAKVLFRVETGQLIAVLCLTVEPQPHVVDQVFRFYHPELTFLKKAIRLPPWHTLPGAPVGMPGEDPPVHVRCSDPNVICEAQNVGPGEPRDVFLKVASGPSPEIKDFFVVIYADRWLAVPVQTWQVCLHSLQRVDVSCVAGQLTRLSLVLRGTQTVRKVRAFTSHPQELKTDPAGVFVLPPHGVQDLHVGVRPRRAGSRFVHLNLVDIDYHQLVASWLVCLSCRQPLISKAFEITMAAGDEKGTNKRITYTNPYPSRRTYRLHSDRPELLRFKEDSFQVAGGETYTIGLRFLPSGSAGQEEILIYINDHEDKNEETFCVKVLYQ", "length": 1425 }, "evidence": [ { "id": "45921725", "url": "http://www.informatics.jax.org/homology/45921725", "database": "MGI" }, { "id": "O75161", "url": "https://omabrowser.org/oma/group/O75161/", "database": "OMA" } ], "common_name": "Mouse" } ], "go_annotation": { "categories": [ { "name": "Cellular Component", "total": 15, "go_terms": [ { "name": "cytoskeleton", "id": "GO:0005856", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005856", "evidence": [ { "database": "UniProtKB", "id": "O75161", "url": "https://www.uniprot.org/uniprot/O75161" } ], "pmid": "" }, { "name": "non-motile cilium", "id": "GO:0097730", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097730", "evidence": [ { "database": "UniProtKB", "id": "O75161", "url": "https://www.uniprot.org/uniprot/O75161" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "O75161", "url": "https://www.uniprot.org/uniprot/O75161" } ], "pmid": "" }, { "name": "centrosome", "id": "GO:0005813", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005813", "evidence": [ { "database": "UniProtKB", "id": "O75161", "url": "https://www.uniprot.org/uniprot/O75161" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "O75161", "url": "https://www.uniprot.org/uniprot/O75161" } ], "pmid": "" }, { "name": "cell-cell junction", "id": "GO:0005911", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005911", "evidence": [ { "database": "UniProtKB", "id": "O75161", "url": "https://www.uniprot.org/uniprot/O75161" } ], "pmid": "" }, { "name": "bicellular tight junction", "id": "GO:0005923", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005923", "evidence": [ { "database": "UniProtKB", "id": "O75161", "url": "https://www.uniprot.org/uniprot/O75161" } ], "pmid": "" }, { "name": "intracellular membrane-bounded organelle", "id": "GO:0043231", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043231", "evidence": [ { "database": "UniProtKB", "id": "O75161", "url": "https://www.uniprot.org/uniprot/O75161" } ], "pmid": "" }, { "name": "nuclear body", "id": "GO:0016604", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016604", "evidence": [ { "database": "UniProtKB", "id": "O75161", "url": "https://www.uniprot.org/uniprot/O75161" } ], "pmid": "" }, { "name": "centriole", "id": "GO:0005814", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005814", "evidence": [ { "database": "UniProtKB", "id": "O75161", "url": "https://www.uniprot.org/uniprot/O75161" } ], "pmid": "" }, { "name": "ciliary basal body", "id": "GO:0036064", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036064", "evidence": [ { "database": "UniProtKB", "id": "O75161", "url": "https://www.uniprot.org/uniprot/O75161" } ], "pmid": "" }, { "name": "ciliary base", "id": "GO:0097546", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097546", "evidence": [ { "database": "UniProtKB", "id": "O75161", "url": "https://www.uniprot.org/uniprot/O75161" } ], "pmid": "" }, { "name": "ribbon synapse", "id": "GO:0097470", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097470", "evidence": [ { "database": "UniProtKB", "id": "O75161", "url": "https://www.uniprot.org/uniprot/O75161" } ], "pmid": "" }, { "name": "ciliary transition zone", "id": "GO:0035869", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035869", "evidence": [ { "database": "UniProtKB", "id": "O75161", "url": "https://www.uniprot.org/uniprot/O75161" } ], "pmid": "" }, { "name": "photoreceptor distal connecting cilium", "id": "GO:0120206", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0120206", "evidence": [ { "database": "UniProtKB", "id": "O75161", "url": "https://www.uniprot.org/uniprot/O75161" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 11, "go_terms": [ { "name": "negative regulation of canonical Wnt signaling pathway", "id": "GO:0090090", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090090", "evidence": [ { "database": "UniProtKB", "id": "O75161", "url": "https://www.uniprot.org/uniprot/O75161" } ], "pmid": "" }, { "name": "signal transduction", "id": "GO:0007165", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007165", "evidence": [ { "database": "UniProtKB", "id": "O75161", "url": "https://www.uniprot.org/uniprot/O75161" } ], "pmid": "" }, { "name": "flagellated sperm motility", "id": "GO:0030317", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030317", "evidence": [ { "database": "UniProtKB", "id": "O75161", "url": "https://www.uniprot.org/uniprot/O75161" } ], "pmid": "" }, { "name": "actin cytoskeleton organization", "id": "GO:0030036", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030036", "evidence": [ { "database": "UniProtKB", "id": "O75161", "url": "https://www.uniprot.org/uniprot/O75161" } ], "pmid": "" }, { "name": "cell-cell adhesion", "id": "GO:0098609", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098609", "evidence": [ { "database": "UniProtKB", "id": "O75161", "url": "https://www.uniprot.org/uniprot/O75161" } ], "pmid": "" }, { "name": "photoreceptor cell maintenance", "id": "GO:0045494", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045494", "evidence": [ { "database": "UniProtKB", "id": "O75161", "url": "https://www.uniprot.org/uniprot/O75161" } ], "pmid": "" }, { "name": "retina development in camera-type eye", "id": "GO:0060041", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060041", "evidence": [ { "database": "UniProtKB", "id": "O75161", "url": "https://www.uniprot.org/uniprot/O75161" } ], "pmid": "" }, { "name": "photoreceptor cell outer segment organization", "id": "GO:0035845", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035845", "evidence": [ { "database": "UniProtKB", "id": "O75161", "url": "https://www.uniprot.org/uniprot/O75161" } ], "pmid": "" }, { "name": "protein localization to ciliary transition zone", "id": "GO:1904491", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904491", "evidence": [ { "database": "UniProtKB", "id": "O75161", "url": "https://www.uniprot.org/uniprot/O75161" } ], "pmid": "" }, { "name": "visual behavior", "id": "GO:0007632", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007632", "evidence": [ { "database": "UniProtKB", "id": "O75161", "url": "https://www.uniprot.org/uniprot/O75161" } ], "pmid": "" }, { "name": "positive regulation of bicellular tight junction assembly", "id": "GO:1903348", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903348", "evidence": [ { "database": "UniProtKB", "id": "O75161", "url": "https://www.uniprot.org/uniprot/O75161" } ], "pmid": "" } ] }, { "name": "Molecular Function", "total": 1, "go_terms": [ { "name": "structural molecule activity", "id": "GO:0005198", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005198", "evidence": [ { "database": "UniProtKB", "id": "O75161", "url": "https://www.uniprot.org/uniprot/O75161" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [ { "start_pos": 182, "end_pos": 184, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [], "interactions": [], "reactions": [], "reaction_participants": [], "reaction_enzymes": [], "biomarkers": [], "synthesized_glycans": [], "cluster_types": [ { "name": "isoformset.uniprotkb", "label": "Isoforms" }, { "name": "homologset.mgi", "label": "MGI Homologs" }, { "name": "homologset.oma", "label": "OMA Homologs" } ], "sequence_features": { "n_linked_sites": [], "o_linked_sites": [], "snv_sites": [ 658 ], "glycation_sites": [], "phosphorylation_sites": [ 142, 423 ], "sequon_annotation_sites": [ { "start_pos": 182, "end_pos": 184 } ] }, "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": 2 }, { "field": "total_sites", "count": 2 } ], "sort_fields": [ "start_pos", "end_pos", "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 } ], "sort_fields": [ "start_pos", "end_pos", "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 } ], "sort_fields": [ "start_pos", "end_pos", "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "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": 82 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }