{ "uniprot_canonical_ac": "A8MTZ0-1", "uniprot_ac": "A8MTZ0", "uniprot_id": "BBIP1_HUMAN", "mass": { "chemical_mass": 10506.0, "monoisotopic_mass": 10506.0 }, "refseq": { "ac": "NP_001182233", "name": "BBSome-interacting protein 1 isoform 1", "summary": "This gene encodes one of eight proteins that form the BBSome complex and is essential for its assembly. The BBSome complex is involved in trafficking signal receptors to and from the cilia. Mutations in this gene result in Bardet-Biedl syndrome 18. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2014].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001182233" }, "gene_names": [ { "name": "BBIP1", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/A8MTZ0", "id": "A8MTZ0" }, { "name": "BBIP10", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/A8MTZ0", "id": "A8MTZ0" }, { "name": "BBIP1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001182233", "id": "NP_001182233" }, { "name": "NCRNA00081", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/A8MTZ0", "id": "A8MTZ0" }, { "name": "bA348N5.3; BBIP10; BBS18; NCRNA00081", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001182233", "id": "NP_001182233" } ], "protein_names": [ { "name": "BBSome-interacting protein 1", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "A8MTZ0" }, { "name": "BBSome-interacting protein 1 isoform 1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001182233", "id": "NP_001182233" }, { "name": "BBSome-interacting protein of 10 kDa; UPF0604 protein", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001182233", "id": "NP_001182233" }, { "name": "BBSome-interacting protein of 10 kDa", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "A8MTZ0" } ], "function": [ { "annotation": "Identification of BBIP1 as the 18th BBS gene (BBS18), BBSome assembly may represent a unifying pathomechanism for Bardet-Biedl syndrome.", "evidence": [ { "database": "RefSeq", "id": "NP_001182233", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001182233" }, { "database": "PubMed", "id": "24026985", "url": "https://glygen.org/publication/PubMed/24026985" } ] }, { "annotation": "The BBSome complex is thought to function as a coat complex required for sorting of specific membrane proteins to the primary cilia. The BBSome complex is required for ciliogenesis but is dispensable for centriolar satellite function. This ciliogenic function is mediated in part by the Rab8 GDP/GTP exchange factor, which localizes to the basal body and contacts the BBSome. Rab8(GTP) enters the primary cilium and promotes extension of the ciliary membrane. Firstly the BBSome associates with the ciliary membrane and binds to RAB3IP/Rabin8, the guanosyl exchange factor (GEF) for Rab8 and then the Rab8-GTP localizes to the cilium and promotes docking and fusion of carrier vesicles to the base of the ciliary membrane. Required for primary cilia assembly and BBSome stability. Regulates cytoplasmic microtubule stability and acetylation.", "evidence": [ { "database": "UniProtKB", "id": "A8MTZ0", "url": "https://www.uniprot.org/uniprot/A8MTZ0#function" }, { "database": "UniProtKB", "id": "SIP7B171EE2667A28AA", "url": "https://www.uniprot.org/uniprot/SIP7B171EE2667A28AA#function" } ] }, { "annotation": "This gene encodes one of eight proteins that form the BBSome complex and is essential for its assembly. The BBSome complex is involved in trafficking signal receptors to and from the cilia. Mutations in this gene result in Bardet-Biedl syndrome 18. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2014].", "evidence": [ { "database": "RefSeq", "id": "NP_001182233", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001182233" } ] } ], "disease": [ { "disease_id": "DOID:0110140", "recommended_name": { "id": "DOID:0110140", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110140", "name": "Bardet-Biedl syndrome 18", "description": "A Bardet-Biedl syndrome that has_material_basis_in homozygous mutation in the BBIP1 gene on chromosome 10q25." }, "synonyms": [ { "id": "DOID:0110140", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110140", "name": "BBS18", "description": "" }, { "id": "MONDO:0014446", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014446", "name": "Bardet-Biedl syndrome 18", "description": "Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the BBIP1 gene." }, { "id": "MONDO:0014446", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014446", "name": "BBIP1 Bardet-Biedl syndrome", "description": "" }, { "id": "MONDO:0014446", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014446", "name": "BBS18", "description": "" }, { "id": "MONDO:0014446", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014446", "name": "Bardet-Biedl syndrome 18", "description": "" }, { "id": "MONDO:0014446", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014446", "name": "Bardet-Biedl syndrome caused by mutation in BBIP1", "description": "" }, { "id": "MONDO:0014446", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014446", "name": "Bardet-Biedl syndrome type 18", "description": "" }, { "id": "MIM:615995", "resource": "MIM", "url": "https://www.omim.org/entry/615995", "name": "Bardet-Biedl syndrome 18", "description": "Bardet-Biedl syndrome 18" } ], "evidence": [ { "id": "615995", "database": "MIM", "url": "https://www.omim.org/entry/615995" } ] } ], "snv": [], "mutagenesis": [], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "87.42", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000214413", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000214413" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "97.06", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000214413", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000214413" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "88.82", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000214413", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000214413" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "73.37", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000214413", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000214413" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "88.18", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000214413", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000214413" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "88.81", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000214413", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000214413" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "84.9", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000214413", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000214413" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "91.27", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000214413", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000214413" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "91.95", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000214413", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000214413" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "84.94", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000214413", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000214413" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "87.98", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000214413", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000214413" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "89.31", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000214413", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000214413" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "89.13", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000214413", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000214413" } ] } ], "expression_disease": [ { "significant": "No", "trend": "down", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "A8MTZ0", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A8MTZ0" } ], "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 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"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, 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"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", 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"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", 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"MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ] } ] }, { "significant": "No", "trend": "down", "name": "Head and neck cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11934", "evidence": [ { "database": "BioXpress", "id": "A8MTZ0", "url": 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"" }, { "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": 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"title": "Rab proteins as membrane organizers.", "journal": "Nature reviews. Molecular cell biology", "date": "2001", "authors": "Zerial M, McBride H", "evidence": [ { "database": "Reactome", "id": "R-HSA-5620922", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5620922" } ], "reference": [ { "type": "PubMed", "id": "11252952", "url": "https://glygen.org/publication/PubMed/11252952" } ] }, { "title": "Comparative genomic analysis identifies an ADP-ribosylation factor-like gene as the cause of Bardet-Biedl syndrome (BBS3).", "journal": "American journal of human genetics", "date": "2004", "authors": "Chiang AP, Nishimura D, Searby C, Elbedour K, Carmi R, Ferguson AL, Secrist J, Braun T, Casavant T, Stone EM, Sheffield VC", "evidence": [ { "database": "Reactome", "id": "R-HSA-5620922", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5620922" } ], "reference": [ { "type": "PubMed", "id": "15258860", "url": "https://glygen.org/publication/PubMed/15258860" } ] }, { "title": "Mutations in a member of the Ras superfamily of small GTP-binding proteins causes Bardet-Biedl syndrome.", "journal": "Nature genetics", "date": "2004", "authors": "Fan Y, Esmail MA, Ansley SJ, Blacque OE, Boroevich K, Ross AJ, Moore SJ, Badano JL, May-Simera H, Compton DS, Green JS, Lewis RA, van Haelst MM, Parfrey PS, Baillie DL, Beales PL, Katsanis N, Davidson WS, Leroux MR", "evidence": [ { "database": "Reactome", "id": "R-HSA-5620922", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5620922" } ], "reference": [ { "type": "PubMed", "id": "15314642", "url": "https://glygen.org/publication/PubMed/15314642" } ] }, { "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-5620922", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5620922" } ], "reference": [ { "type": "PubMed", "id": "17574030", "url": "https://glygen.org/publication/PubMed/17574030" } ] }, { "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-5620922", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5620922" } ], "reference": [ { "type": "PubMed", "id": "19081074", "url": "https://glygen.org/publication/PubMed/19081074" } ] }, { "title": "The nonmotile ciliopathies.", "journal": "Genetics in medicine : official journal of the American College of Medical Genetics", "date": "2009", "authors": "Tobin JL, Beales PL", "evidence": [ { "database": "Reactome", "id": "R-HSA-5620922", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5620922" } ], "reference": [ { "type": "PubMed", "id": "19421068", "url": "https://glygen.org/publication/PubMed/19421068" } ] }, { "title": "Trafficking to the ciliary membrane: how to get across the periciliary diffusion barrier?", "journal": "Annual review of cell and developmental biology", "date": "2010", "authors": "Nachury MV, Seeley ES, Jin H", "evidence": [ { "database": "Reactome", "id": "R-HSA-5620922", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5620922" } ], "reference": [ { "type": "PubMed", "id": "19575670", "url": "https://glygen.org/publication/PubMed/19575670" } ] }, { "title": "BBS6, BBS10, and BBS12 form a complex with CCT/TRiC family chaperonins and mediate BBSome assembly.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2010", "authors": "Seo S, Baye LM, Schulz NP, Beck JS, Zhang Q, Slusarski DC, Sheffield VC", "evidence": [ { "database": "Reactome", "id": "R-HSA-5620922", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5620922" } ], "reference": [ { "type": "PubMed", "id": "20080638", "url": "https://glygen.org/publication/PubMed/20080638" } ] }, { "title": "Tumor-suppressive functions of leucine zipper transcription factor-like 1.", "journal": "Cancer research", "date": "2010", "authors": "Wei Q, Zhou W, Wang W, Gao B, Wang L, Cao J, Liu ZP", "evidence": [ { "database": "Reactome", "id": "R-HSA-5620922", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5620922" } ], "reference": [ { "type": "PubMed", "id": "20233871", "url": "https://glygen.org/publication/PubMed/20233871" } ] }, { "title": "The conserved Bardet-Biedl syndrome proteins assemble a coat that traffics membrane proteins to cilia.", "journal": "Cell", "date": "2010", "authors": "Jin H, White SR, Shida T, Schulz S, Aguiar M, Gygi SP, Bazan JF, Nachury MV", "evidence": [ { "database": "Reactome", "id": "R-HSA-5620922", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5620922" } ], "reference": [ { "type": "PubMed", "id": "20603001", "url": "https://glygen.org/publication/PubMed/20603001" } ] }, { "title": "Ciliogenesis: building the cell's antenna.", "journal": "Nature reviews. Molecular cell biology", "date": "2011", "authors": "Ishikawa H, Marshall WF", "evidence": [ { "database": "Reactome", "id": "R-HSA-5620922", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5620922" } ], "reference": [ { "type": "PubMed", "id": "21427764", "url": "https://glygen.org/publication/PubMed/21427764" } ] }, { "title": "A novel protein LZTFL1 regulates ciliary trafficking of the BBSome and Smoothened.", "journal": "PLoS genetics", "date": "2011", "authors": "Seo S, Zhang Q, Bugge K, Breslow DK, Searby CC, Nachury MV, Sheffield VC", "evidence": [ { "database": "Reactome", "id": "R-HSA-5620922", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5620922" } ], "reference": [ { "type": "PubMed", "id": "22072986", "url": "https://glygen.org/publication/PubMed/22072986" } ] }, { "title": "Bardet-Biedl syndrome 3 (Bbs3) knockout mouse model reveals common BBS-associated phenotypes and Bbs3 unique phenotypes.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2011", "authors": "Zhang Q, Nishimura D, Seo S, Vogel T, Morgan DA, Searby C, Bugge K, Stone EM, Rahmouni K, Sheffield VC", "evidence": [ { "database": "Reactome", "id": "R-HSA-5620922", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5620922" } ], "reference": [ { "type": "PubMed", "id": "22139371", "url": "https://glygen.org/publication/PubMed/22139371" } ] }, { "title": "The emerging role of Arf/Arl small GTPases in cilia and ciliopathies.", "journal": "Journal of cellular biochemistry", "date": "2012", "authors": "Li Y, Ling K, Hu J", "evidence": [ { "database": "Reactome", "id": "R-HSA-5620922", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5620922" } ], "reference": [ { "type": "PubMed", "id": "22389062", "url": "https://glygen.org/publication/PubMed/22389062" } ] }, { "title": "Intrinsic protein-protein interaction-mediated and chaperonin-assisted sequential assembly of stable bardet-biedl syndrome protein complex, the BBSome.", "journal": "The Journal of biological chemistry", "date": "2012", "authors": "Zhang Q, Yu D, Seo S, Stone EM, Sheffield VC", "evidence": [ { "database": "Reactome", "id": "R-HSA-5620922", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5620922" } ], "reference": [ { "type": "PubMed", "id": "22500027", "url": "https://glygen.org/publication/PubMed/22500027" } ] }, { "title": "Trafficking in and to the primary cilium.", "journal": "Cilia", "date": "2012", "authors": "Hsiao YC, Tuz K, Ferland RJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-5620922", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5620922" } ], "reference": [ { "type": "PubMed", "id": "23351793", "url": "https://glygen.org/publication/PubMed/23351793" } ] }, { "title": "Exome sequencing of Bardet-Biedl syndrome patient identifies a null mutation in the BBSome subunit BBIP1 (BBS18).", "journal": "J. Med. Genet.", "date": "2014", "authors": "Scheidecker S, Etard C, Pierce NW, Geoffroy V, Schaefer E, Muller J, Chennen K, Flori E, Pelletier V, Poch O, Marion V, Stoetzel C, Strahle U, Nachury MV, Dollfus H", "evidence": [ { "database": "UniProtKB", "id": "A8MTZ0", "url": "https://www.uniprot.org/uniprot/A8MTZ0" }, { "database": "RefSeq", "id": "NP_001182233", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001182233" } ], "reference": [ { "type": "PubMed", "id": "24026985", "url": "https://glygen.org/publication/PubMed/24026985" } ] }, { "title": "The roles of evolutionarily conserved functional modules in cilia-related trafficking.", "journal": "Nature cell biology", "date": "2013", "authors": "Sung CH, Leroux MR", "evidence": [ { "database": "Reactome", "id": "R-HSA-5620922", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5620922" } ], "reference": [ { "type": "PubMed", "id": "24296415", "url": "https://glygen.org/publication/PubMed/24296415" } ] }, { "title": "The intraflagellar 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