{ "uniprot_canonical_ac": "P08F94-1", "uniprot_ac": "P08F94", "uniprot_id": "PKHD1_HUMAN", "mass": { "chemical_mass": 446702.0, "monoisotopic_mass": 446702.0 }, "refseq": { "ac": "NP_619639", "name": "fibrocystin isoform 1", "summary": "The protein encoded by this gene is predicted to have a single transmembrane (TM)-spanning domain and multiple copies of an immunoglobulin-like plexin-transcription-factor domain. Alternative splicing results in two transcript variants encoding different isoforms. Other alternatively spliced transcripts have been described, but the full length sequences have not been determined. Several of these transcripts are predicted to encode truncated products which lack the TM and may be secreted. Mutations in this gene cause autosomal recessive polycystic kidney disease, also known as polycystic kidney and hepatic disease-1. [provided by RefSeq, Jul 2008].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_619639" }, "gene_names": [ { "name": "PKHD1", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P08F94", "id": "P08F94" }, { "name": "ARPKD; FCYT; FPC; PCYT; PKD4; TIGM1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_619639", "id": "NP_619639" }, { "name": "FCYT", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P08F94", "id": "P08F94" }, { "name": "PKHD1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_619639", "id": "NP_619639" }, { "name": "TIGM1", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P08F94", "id": "P08F94" } ], "protein_names": [ { "name": "Fibrocystin", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "P08F94" }, { "name": "Polycystic kidney and hepatic disease 1 protein", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P08F94" }, { "name": "Polyductin", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P08F94" }, { "name": "TIG multiple domains 1; polyductin; tigmin; fibrocystin; polycystic kidney and hepatic disease 1 protein; polycystic kidney and hepatic disease 1 (autosomal recessive); fibrocystin/polyductin complex; PKHD1, fibrocystin/polyductin", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_619639", "id": "NP_619639" }, { "name": "Tigmin", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P08F94" }, { "name": "fibrocystin isoform 1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_619639", "id": "NP_619639" } ], "function": [ { "annotation": "Characterization of mutation in autosomal recessive polycystic kidney disease", "evidence": [ { "database": "RefSeq", "id": "NP_619639", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_619639" }, { "database": "PubMed", "id": "11919560", "url": "https://glygen.org/publication/PubMed/11919560" } ] }, { "annotation": "Clinical features of autosomal recessive polycystic kidney disease in the Japanese population and analysis of splicing in PKHD1 gene for determination of phenotypes.", "evidence": [ { "database": "RefSeq", "id": "NP_619639", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_619639" }, { "database": "PubMed", "id": "34536170", "url": "https://glygen.org/publication/PubMed/34536170" } ] }, { "annotation": "PKHD1, the polycystic kidney and hepatic disease 1 gene, encodes a novel large protein containing multiple immunoglobulin-like plexin-transcription-factor domains and parallel beta-helix 1 repeats.", "evidence": [ { "database": "RefSeq", "id": "NP_619639", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_619639" }, { "database": "PubMed", "id": "11898128", "url": "https://glygen.org/publication/PubMed/11898128" } ] }, { "annotation": "Possible PKHD1 Hot-spot Mutations Related to Early Kidney Function Failure or Hepatofibrosis in Chinese Children with ARPKD: A Retrospective Single Center Cohort Study and Literature Review.", "evidence": [ { "database": "RefSeq", "id": "NP_619639", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_619639" }, { "database": "PubMed", "id": "33123899", "url": "https://glygen.org/publication/PubMed/33123899" } ] }, { "annotation": "Promotes ciliogenesis in renal epithelial cells and therefore participates in the tubules formation and/ or ensures the maintenance of the architecture of the lumen of the kidney (By similarity). Has an impact on cellular symmetry by ensuring correct bipolar cell division through the regulation of centrosome duplication and mitotic spindle assembly and by maintaining oriented cell division (OCD) during tubular elongation through planar cell polarity (PCP) pathway (PubMed:20554582). During epithelial cell morphogenesis regulates also cell-cell and cell-matrix adhesion and participates in cell motility (By similarity). Promotes cell-cell contact through the positive regulation of PTK2 kinase activity leading to either positive regulation of epithelial cell proliferation through the HRAS/RAF1 pathways, or negative regulation of apoptosis through the PDK1/AKT1 pathway (By similarity). May act in collecting-duct and biliary differentiation (PubMed:11919560). May participate in the regulation of the cholangiocytes proliferation and the CCN2 production in an CXCL8-dependent manner (PubMed:30898581).", "evidence": [ { "database": "UniProtKB", "id": "P08F94", "url": "https://www.uniprot.org/uniprot/P08F94#function" }, { "database": "PubMed", "id": "11919560", "url": "https://glygen.org/publication/PubMed/11919560" }, { "database": "PubMed", "id": "20554582", "url": "https://glygen.org/publication/PubMed/20554582" }, { "database": "UniProtKB", "id": "E9PZ36", "url": "https://www.uniprot.org/uniprot/E9PZ36#function" }, { "database": "PubMed", "id": "30898581", "url": "https://glygen.org/publication/PubMed/30898581" }, { "database": "UniProtKB", "id": "E2RK30", "url": "https://www.uniprot.org/uniprot/E2RK30#function" } ] }, { "annotation": "Rare variants in PKHD1 associated with Caroli syndrome: Two case reports.", "evidence": [ { "database": "RefSeq", "id": "NP_619639", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_619639" }, { "database": "PubMed", "id": "35715958", "url": "https://glygen.org/publication/PubMed/35715958" } ] }, { "annotation": "Refining genotype-phenotype correlations in 304 patients with autosomal recessive polycystic kidney disease and PKHD1 gene variants.", "evidence": [ { "database": "RefSeq", "id": "NP_619639", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_619639" }, { "database": "PubMed", "id": "33940108", "url": "https://glygen.org/publication/PubMed/33940108" } ] }, { "annotation": "The protein encoded by this gene is predicted to have a single transmembrane (TM)-spanning domain and multiple copies of an immunoglobulin-like plexin-transcription-factor domain. Alternative splicing results in two transcript variants encoding different isoforms. Other alternatively spliced transcripts have been described, but the full length sequences have not been determined. Several of these transcripts are predicted to encode truncated products which lack the TM and may be secreted. Mutations in this gene cause autosomal recessive polycystic kidney disease, also known as polycystic kidney and hepatic disease-1. [provided by RefSeq, Jul 2008].", "evidence": [ { "database": "RefSeq", "id": "NP_619639", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_619639" } ] } ], "disease": [ { "disease_id": "DOID:0110861", "recommended_name": { "id": "DOID:0110861", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110861", "name": "autosomal recessive polycystic kidney disease", "description": "A polycystic kidney disease characterized by the presence of multiple cysts located_in the kidney resulting from ciliopathy that disrupts the function of primary cilium, inherited in an autosomal recessive fashion." }, "synonyms": [ { "id": "DOID:0110861", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110861", "name": "Arpkd", "description": "" }, { "id": "DOID:0110861", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110861", "name": "Pkhd1", "description": "" }, { "id": "DOID:0110861", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110861", "name": "Polycystic Kidney Disease, Infantile, Type I", "description": "" }, { "id": "DOID:0110861", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110861", "name": "Polycystic Kidney and Hepatic Disease 1", "description": "" }, { "id": "MONDO:0033004", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0033004", "name": "polycystic kidney disease 4", "description": "A autosomal dominant polycystic kidney disease that has material basis in mutation in the PKD4 gene." }, { "id": "MONDO:0033004", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0033004", "name": "polycystic kidney disease 4", "description": "" }, { "id": "MONDO:0033004", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0033004", "name": "polycystic kidney disease 4, with or without hepatic disease", "description": "" }, { "id": "MONDO:0033004", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0033004", "name": "PKD3", "description": "" }, { "id": "MONDO:0033004", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0033004", "name": "PKD3, formerly", "description": "" }, { "id": "MONDO:0033004", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0033004", "name": "PKD4", "description": "" }, { "id": "MONDO:0033004", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0033004", "name": "hepatic fibrosis, congenital", "description": "" }, { "id": "MONDO:0033004", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0033004", "name": "polycystic kidney and hepatic disease 1", "description": "" }, { "id": "MONDO:0033004", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0033004", "name": "polycystic kidney disease 4 with or without hepatic disease", "description": "" }, { "id": "MONDO:0033004", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0033004", "name": "polycystic kidney disease 4 with or without polycystic liver disease", "description": "" }, { "id": "MONDO:0033004", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0033004", "name": "polycystic kidney disease, autosomal recessive", "description": "" }, { "id": "MONDO:0033004", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0033004", "name": "polycystic kidney disease, infantile, type 1", "description": "" }, { "id": "MIM:263200", "resource": "MIM", "url": "https://www.omim.org/entry/263200", "name": "Polycystic kidney disease 4, with or without polycystic liver disease", "description": "Polycystic kidney disease 4, with or without polycystic liver disease" } ], "evidence": [ { "id": "263200", "database": "MIM", "url": "https://www.omim.org/entry/263200" } ] } ], "snv": [ { "evidence": [ { "id": "rs1203511766", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1203511766" }, { "id": "rs1203511766", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1203511766" } ], "glycoeffect": [ "n-glyco-sequon-gain", "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 1348, "end_pos": 1348, "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (SLS->NLS); n-glyco-sequon-loss (NVS->NVN).", "chr_id": "6", "chr_pos": "52025767", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S1348", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs757084465", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs757084465" }, { "id": "rs757084465", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs757084465" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 2036, "end_pos": 2036, "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NGT->NGI); o-glyco-site-loss (T->I).", "chr_id": "6", "chr_pos": "51934124", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T2036", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs149486694", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs149486694" }, { "id": "rs149486694", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs149486694" }, { "id": "rs149486694", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs149486694" }, { "id": "rs149486694", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs149486694#frequency_tab" }, { "id": "rs149486694", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs149486694" } ], "glycoeffect": [ "n-glyco-sequon-gain", "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 3490, "end_pos": 3490, "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (STS->NTS); n-glyco-sequon-loss (NKS->NKN).", "chr_id": "6", "chr_pos": "51659657", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S3490", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P08F94", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P08F94" }, { "id": "rs62406032", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs62406032" }, { "id": "rs62406032", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs62406032" }, { "id": "rs62406032", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs62406032" }, { "id": "rs62406032", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs62406032#frequency_tab" }, { "id": "rs62406032", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs62406032" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 830, "end_pos": 830, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "N", "sequence_mut": "S", "comment": "Somatic mutation passed 2 out of 6 filters: num. of cancers (3); n-glyco-sequon-loss (NAS->SAS).", "chr_id": "6", "chr_pos": "52046107", "ref_nt": "T", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "N830", "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" } ] }, { "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": 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"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" } ] }, { "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" } ] }, { "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": 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"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 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"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": "P08F94", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P08F94" } ], "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, intestinal", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ] } ] }, { "significant": "No", "trend": "up", "name": "Urinary bladder cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11054", "evidence": [ { "database": "BioXpress", "id": "P08F94", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P08F94" } ], "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": "P08F94", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P08F94" } ], "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. 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"id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine 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"MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung neoplasm", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Breast cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1612", "evidence": [ { "database": "BioXpress", "id": "P08F94", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P08F94" } ], "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": 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Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] } ] }, { "significant": "No", "trend": "up", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "P08F94", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P08F94" } ], "disease": [ { "disease_id": "DOID:1781", "recommended_name": { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid cancer", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage." }, "synonyms": [ { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid gland cancer", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", 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"https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P08F94" } ], "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": "down", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ 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"database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR012334", "url": "https://www.ebi.ac.uk/interpro/entry/IPR012334", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR013783", "url": "https://www.ebi.ac.uk/interpro/entry/IPR013783", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR014756", "url": "https://www.ebi.ac.uk/interpro/entry/IPR014756", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR019316", "url": "https://www.ebi.ac.uk/interpro/entry/IPR019316", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR037524", "url": "https://www.ebi.ac.uk/interpro/entry/IPR037524", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR039448", "url": "https://www.ebi.ac.uk/interpro/entry/IPR039448", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "hsa:5314", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:5314", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "263200", "url": "http://www.omim.org/entry/263200", "database": "MIM", "categories": [ "Other" ] }, { "id": "606702", "url": "http://www.omim.org/entry/606702", "database": "MIM", "categories": [ "Other" ] }, { "id": "NX_P08F94", "url": "https://www.nextprot.org/entry/NX_P08F94", "database": "neXtProt", "categories": [ "Protein", "Organism-specific" ] }, { "id": "P08F94", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P08F94", "database": "O-GlcNAc Database", "categories": [ "Glycoproteomics" ] }, { "id": "FMVWGSA", "url": "https://omabrowser.org/oma/group/FMVWGSA/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "4766at2759", "url": "http://www.orthodb.org/?query=4766at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR46769", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR46769", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR46769:SF1", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR46769:SF1", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PF01833", "url": "http://pfam.xfam.org/family/PF01833", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF10162", "url": "http://pfam.xfam.org/family/PF10162", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF13229", "url": "http://pfam.xfam.org/family/PF13229", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "P08F94", "url": "https://pharos.nih.gov/targets/P08F94", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR_P08F94", "url": "http://purl.obolibrary.org/obo/PR_P08F94", "database": "PRO", "categories": [ "Protein" ] }, { "id": "NP_619639", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_619639", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "P08F94", "url": "https://www.uniprot.org/uniprot/P08F94", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P08F94-1", "url": "https://www.uniprot.org/uniprot/P08F94-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P08F94-2", "url": "https://www.uniprot.org/uniprot/P08F94-2", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MTAWLISLMSIEVLLLAVRHLSLHIEPEEGSLAGGTWITVIFDGLELGVLYPNNGSQLEIHLVNVNMVVPALRSVPCDVFPVFLDLPVVTCRTRSVLSEAHEGLYFLEAYFGGQLVSSPNPGPRDSCTFKFSKAQTPIVHQVYPPSGVPGKLIHVYGWIITGRLETFDFDAEYIDSPVILEAQGDKWVTPCSLINRQMGSCYPIQEDHGLGTLQCHVEGDYIGSQNVSFSVFNKGKSMVHKKAWLISAKQDLFLYQTHSEILSVFPETGSLGGRTNITITGDFFDNSAQVTIAGIPCDIRHVSPRKIECTTRAPGKDVRLTTPQPGNRGLLFEVGDAVEGLELTEATPGYRWQIVPNASSPFGFWSQEGQPFRARLSGFFVAPETNNYTFWIQADSQASLHFSWSEEPRTKVKVASISVGTADWFDSWEQNRDEGTWQQKTPKLELLGGAMYYLEAEHHGIAPSRGMRIGVQIHNTWLNPDVVTTYLREKHQIRVRAQRLPEVQVLNVSGRGNFFLTWDNVSSQPIPANATAHLIQTTIEELLAVKCKLEPLWSNILLRLGFERGPEVSNSDGDLTSGTEPFCGRFSLRQPRHLVLTPPAAQKGYRLDQYTHLCLAYKGHMNKILKMIVSFTIGFQNMVKNTTCDWSLTRTSPESWQFDCTDLWETCVRCFGDLQPPPANSPVLVHQINLLPLAQETGLFYVDEIIIADTNVTVSQADSGTARPGGNLVESVSVVGSPPVYSVTSWLAGCGTELPLITARSVPTEGTEEGSGLVLVTTQRRQRTSPPLGGHFRIQLPNTVISDVPVQISAHHLHQLLQNNADDFTSRYLNASDFTVKEDLYTCYEHVWTLSWSTQIGDLPNFIRVSDENLTGVNPAAATRVVYDGGVFLGPIFGDMLATANQHTQVVVRVNDVPAHCPGSCSFQYLQGSTPCVHSVWYSIDGDINLMIYITGTGFSGDSQFLQVTVNKTSCKVIFSNQTNVVCQTDLLPVGMHRILMLVRPSGLAISATGEDLFLNVKPRLDMVEPSRAADIGGLWATIRGSSLEGVSLILFGSYSCAINVATSNSSRIQCKVPPRGKDGRIVNVTVIRGDYSAVLPRAFTYVSSLNPVIVTLSRNISNIAGGETLVIGVARLMNYTDLDVEVHVQDALAPVHTQSAWGLEVALPPLPAGLHRISVSINGVSIHSQGVDLHIQYLTEVFSIEPCCGSLLGGTILSISGIGFSRDPALVWVLVGNRSCDIVNLTEASIWCETLPAPQIPDAGAPTVPAAVEVWAGNRFFARGPSPSLVGKGFTFMYEAAATPVVTAMQGEITNSSLSLHVGGSNLSNSVILLGNLNCDVETQSFQGNVSLSGCSIPLHSLEAGIYPLQVRQKQMGFANMSVVLQQFAVMPRIMAIFPSQGSACGGTILTVRGLLLNSRRRSVRVDLSGPFTCVILSLGDHTILCQVSLEGDPLPGASFSLNVTVLVNGLTSECQGNCTLFIREEASPVMDALSTNTSGSLTTVLIRGQRLATTADEPMVFVDDQLPCNVTFFNASHVVCQTRDLAPGPHYLSVFYTRNGYACSGNVSRHFYIMPQVFHYFPKNFSLHGGSLLTIEGTGLRGQNTTSVYIDQQTCLTVNIGAELIRCIVPTGNGSVALEIEVDGLWYHIGVIGYNKAFTPELISISQSDDILTFAVAQISGAANIDIFIGMSPCVGVSGNHTVLQCVVPSLPAGEYHVRGYDCIRGWASSALVFTSRVIITAVTENFGCLGGRLVHVFGAGFSPGNVSAAVCGAPCRVLANATVSAFSCLVLPLDVSLAFLCGLKREEDSCEAARHTYVQCDLTVAMATEQLLESWPYLYICEESSQCLFVPDHWAESMFPSFSGLFISPKLERDEVLIYNSSCNITMETEAEMECETPNQPITVKITEIRKRWGQNTQGNFSLQFCRRWSRTHSWFPERLPQDGDNVTVENGQLLLLDTNTSILNLLHIKGGKLIFMAPGPIELRAHAILVSDGGELRIGSEDKPFQGRAQITLYGSSYSTPFFPYGVKFLAVRNGTLSLHGSLPEVIVTCLRATAHALDTVLALEDAVDWNPGDEVVIISGTGVKGAKPMEEIVTVETVQDTDLYLKSPLRYSHNFTENWVAGEHHILKATVALLSRSITIQGNLTNEREKLLVSCQEANAPEGNLQHCLYSMSEKMLGSRDMGARVIVQSFPEEPSQVQLKGVQFQVLGQAFHKHLSSLTLVGAMRESFIQGCTVRNSFSRGLSMCGTLGLKVDSNVFYNILGHALLVGTCTEMRYISWEAIHGRKDDWSGHGNIIRNNVIIQVSGAEGLSNPEMLTPSGIYICSPTNVIEGNRVCGAGYGYFFHLMTNQTSQAPLLSFTQNIAHSCTRYGLFVYPKFQPPWDNVTGTTLFQSFTVWESAGGAQIFRSSNLRLKNFKVYSCRDFGIDVLESDANTSVTDSLLLGHFAHKGSLCMSSGIKTPKRWELMVSNTTFVNFDLINCVAIRTCSDCSQGQGGFTVKTSQLKFTNSSNLVAFPFPHAAILEDLDGSLSGKNRSHILASMETLSASCLVNSSFGRVVHGSACGGGVLFHRMSIGLANTPEVSYDLTMTDSRNKTTTVNYVRDTLSNPRGWMALLLDQETYSLQSENLWINRSLQYSATFDNFAPGNYLLLVHTDLPPYPDILLRCGSRVGLSFPFLPSPGQNQGCDWFFNSQLRQLTYLVSGEGQVQVILRVKEGMPPTISASTSAPESALKWSLPETWQGVEEGWGGYNNTIPGPGDDVLILPNRTVLVDTDLPFFKGLYVMGTLDFPVDRSNVLSVACMVIAGGELKVGTLENPLEKEQKLLILLRASEGVFCDRMNGIHIDPGTIGVYGKVHLYSAYPKNSWTHLGADIASGNERIIVEDAVDWRPHDKIVLSSSSYEPHEAEVLTVKEVKGHHVRIYERLKHRHIGSVHVTEDGRHIRLAAEVGLLTRNIQIQPDVSCRGRLFVGSFRKSSREEFSGVLQLLNVEIQNFGSPLYSSVEFSNVSAGSWIISSTLHQSCGGGIHAAASHGVLLNDNIVFGTAGHGIDLEGQAYTVTNNLVVLMTQPAWSTIWVAGIKVNQVKDINLHGNVVAGSERLGFHIRGHKCSSCELLWSDNVAHSSLHGLHLYKESGLDNCTRISGFLAFKNFDYGAMLHVENSVEIENITLVDNTIGLLAVVYVFSAPQNSVKKVQIVLRNSVIVATSSSFDCIQDKVKPHSANLTSTDRAPSNPRGGRIGILWPVFTSEPNQWPQEPWHKVRNDHSISGIMKLQDVTFSSFVKSCYSDDLDVCILPNAENSGIMHPITAERTRMLKIKDKNKFYFPSLQPRKDLGKVVCPELDCASPRKYLFKDLDGRALGLPPPVSVFPKTEAEWTASFFNAGTFREEQKCTYQFLMQGFICKQTDQVVLILDSADAIWAIQKLYPVVSVTSGFVDVFSSVNANIPCSTSGSVSTFYSILPIRQITKVCFMDQTPQVLRFFLLGNKSTSKLLLAVFYHELQSPHVFLGESFIPPTLVQSASLLLNESIGANYFNIMDNLLYVVLQGEEPIEIRSGVSIHLALTVMVSVLEKGWEIVILERLTNFLQIGQNQIRFIHEMPGHEETLKAIADSRAKRKRNCPTVTCTSHYRRVGQRRPLMMEMNSHRASPPMTVETISKVIVIEIGDSPTVRSTGMISSLSSNKLQNLAHRVITAQQTGVLENVLNMTIGALLVTQSKGVIGYGNTSSFKTGNLIYIRPYALSILVQPSDGEVGNELPVQPQLVFLDEQNRRVESLGPPSEPWTISASLEGASDSVLKGCTQAETQDGYVSFYNLAVLISGSNWHFIFTVTSPPGVNFTARSKPFAVLPVTRKEKSTIILAASLSSVASWLALSCLVCCWLKRSKSRKTKPEEIPESQTNNQNIHIHISSKRRESQGPKKEDTVVGEDMRMKVMLGKVNQCPHQLMNGVSRRKVSRHIVREEEAAVPAPGTTGITSHGHICAPGAPAQQVYLQETGNWKEGQEQLLRYQLAGQNQLLLLCPDFRQERQQLPGQSRLSKQSGSLGLSQEKKASCGATEAFCLHSVHPETIQEQL", "length": 4074, "header": "sp|P08F94-1|PKHD1_HUMAN Isoform 1 of Fibrocystin OS=Homo sapiens OX=9606 GN=PKHD1 PE=1 SV=1 CANONICAL=P08F94-1" }, "isoforms": [ { "isoform_ac": "P08F94-1", "url": "", "sequence": { "sequence": "MTAWLISLMSIEVLLLAVRHLSLHIEPEEGSLAGGTWITVIFDGLELGVLYPNNGSQLEIHLVNVNMVVPALRSVPCDVFPVFLDLPVVTCRTRSVLSEAHEGLYFLEAYFGGQLVSSPNPGPRDSCTFKFSKAQTPIVHQVYPPSGVPGKLIHVYGWIITGRLETFDFDAEYIDSPVILEAQGDKWVTPCSLINRQMGSCYPIQEDHGLGTLQCHVEGDYIGSQNVSFSVFNKGKSMVHKKAWLISAKQDLFLYQTHSEILSVFPETGSLGGRTNITITGDFFDNSAQVTIAGIPCDIRHVSPRKIECTTRAPGKDVRLTTPQPGNRGLLFEVGDAVEGLELTEATPGYRWQIVPNASSPFGFWSQEGQPFRARLSGFFVAPETNNYTFWIQADSQASLHFSWSEEPRTKVKVASISVGTADWFDSWEQNRDEGTWQQKTPKLELLGGAMYYLEAEHHGIAPSRGMRIGVQIHNTWLNPDVVTTYLREKHQIRVRAQRLPEVQVLNVSGRGNFFLTWDNVSSQPIPANATAHLIQTTIEELLAVKCKLEPLWSNILLRLGFERGPEVSNSDGDLTSGTEPFCGRFSLRQPRHLVLTPPAAQKGYRLDQYTHLCLAYKGHMNKILKMIVSFTIGFQNMVKNTTCDWSLTRTSPESWQFDCTDLWETCVRCFGDLQPPPANSPVLVHQINLLPLAQETGLFYVDEIIIADTNVTVSQADSGTARPGGNLVESVSVVGSPPVYSVTSWLAGCGTELPLITARSVPTEGTEEGSGLVLVTTQRRQRTSPPLGGHFRIQLPNTVISDVPVQISAHHLHQLLQNNADDFTSRYLNASDFTVKEDLYTCYEHVWTLSWSTQIGDLPNFIRVSDENLTGVNPAAATRVVYDGGVFLGPIFGDMLATANQHTQVVVRVNDVPAHCPGSCSFQYLQGSTPCVHSVWYSIDGDINLMIYITGTGFSGDSQFLQVTVNKTSCKVIFSNQTNVVCQTDLLPVGMHRILMLVRPSGLAISATGEDLFLNVKPRLDMVEPSRAADIGGLWATIRGSSLEGVSLILFGSYSCAINVATSNSSRIQCKVPPRGKDGRIVNVTVIRGDYSAVLPRAFTYVSSLNPVIVTLSRNISNIAGGETLVIGVARLMNYTDLDVEVHVQDALAPVHTQSAWGLEVALPPLPAGLHRISVSINGVSIHSQGVDLHIQYLTEVFSIEPCCGSLLGGTILSISGIGFSRDPALVWVLVGNRSCDIVNLTEASIWCETLPAPQIPDAGAPTVPAAVEVWAGNRFFARGPSPSLVGKGFTFMYEAAATPVVTAMQGEITNSSLSLHVGGSNLSNSVILLGNLNCDVETQSFQGNVSLSGCSIPLHSLEAGIYPLQVRQKQMGFANMSVVLQQFAVMPRIMAIFPSQGSACGGTILTVRGLLLNSRRRSVRVDLSGPFTCVILSLGDHTILCQVSLEGDPLPGASFSLNVTVLVNGLTSECQGNCTLFIREEASPVMDALSTNTSGSLTTVLIRGQRLATTADEPMVFVDDQLPCNVTFFNASHVVCQTRDLAPGPHYLSVFYTRNGYACSGNVSRHFYIMPQVFHYFPKNFSLHGGSLLTIEGTGLRGQNTTSVYIDQQTCLTVNIGAELIRCIVPTGNGSVALEIEVDGLWYHIGVIGYNKAFTPELISISQSDDILTFAVAQISGAANIDIFIGMSPCVGVSGNHTVLQCVVPSLPAGEYHVRGYDCIRGWASSALVFTSRVIITAVTENFGCLGGRLVHVFGAGFSPGNVSAAVCGAPCRVLANATVSAFSCLVLPLDVSLAFLCGLKREEDSCEAARHTYVQCDLTVAMATEQLLESWPYLYICEESSQCLFVPDHWAESMFPSFSGLFISPKLERDEVLIYNSSCNITMETEAEMECETPNQPITVKITEIRKRWGQNTQGNFSLQFCRRWSRTHSWFPERLPQDGDNVTVENGQLLLLDTNTSILNLLHIKGGKLIFMAPGPIELRAHAILVSDGGELRIGSEDKPFQGRAQITLYGSSYSTPFFPYGVKFLAVRNGTLSLHGSLPEVIVTCLRATAHALDTVLALEDAVDWNPGDEVVIISGTGVKGAKPMEEIVTVETVQDTDLYLKSPLRYSHNFTENWVAGEHHILKATVALLSRSITIQGNLTNEREKLLVSCQEANAPEGNLQHCLYSMSEKMLGSRDMGARVIVQSFPEEPSQVQLKGVQFQVLGQAFHKHLSSLTLVGAMRESFIQGCTVRNSFSRGLSMCGTLGLKVDSNVFYNILGHALLVGTCTEMRYISWEAIHGRKDDWSGHGNIIRNNVIIQVSGAEGLSNPEMLTPSGIYICSPTNVIEGNRVCGAGYGYFFHLMTNQTSQAPLLSFTQNIAHSCTRYGLFVYPKFQPPWDNVTGTTLFQSFTVWESAGGAQIFRSSNLRLKNFKVYSCRDFGIDVLESDANTSVTDSLLLGHFAHKGSLCMSSGIKTPKRWELMVSNTTFVNFDLINCVAIRTCSDCSQGQGGFTVKTSQLKFTNSSNLVAFPFPHAAILEDLDGSLSGKNRSHILASMETLSASCLVNSSFGRVVHGSACGGGVLFHRMSIGLANTPEVSYDLTMTDSRNKTTTVNYVRDTLSNPRGWMALLLDQETYSLQSENLWINRSLQYSATFDNFAPGNYLLLVHTDLPPYPDILLRCGSRVGLSFPFLPSPGQNQGCDWFFNSQLRQLTYLVSGEGQVQVILRVKEGMPPTISASTSAPESALKWSLPETWQGVEEGWGGYNNTIPGPGDDVLILPNRTVLVDTDLPFFKGLYVMGTLDFPVDRSNVLSVACMVIAGGELKVGTLENPLEKEQKLLILLRASEGVFCDRMNGIHIDPGTIGVYGKVHLYSAYPKNSWTHLGADIASGNERIIVEDAVDWRPHDKIVLSSSSYEPHEAEVLTVKEVKGHHVRIYERLKHRHIGSVHVTEDGRHIRLAAEVGLLTRNIQIQPDVSCRGRLFVGSFRKSSREEFSGVLQLLNVEIQNFGSPLYSSVEFSNVSAGSWIISSTLHQSCGGGIHAAASHGVLLNDNIVFGTAGHGIDLEGQAYTVTNNLVVLMTQPAWSTIWVAGIKVNQVKDINLHGNVVAGSERLGFHIRGHKCSSCELLWSDNVAHSSLHGLHLYKESGLDNCTRISGFLAFKNFDYGAMLHVENSVEIENITLVDNTIGLLAVVYVFSAPQNSVKKVQIVLRNSVIVATSSSFDCIQDKVKPHSANLTSTDRAPSNPRGGRIGILWPVFTSEPNQWPQEPWHKVRNDHSISGIMKLQDVTFSSFVKSCYSDDLDVCILPNAENSGIMHPITAERTRMLKIKDKNKFYFPSLQPRKDLGKVVCPELDCASPRKYLFKDLDGRALGLPPPVSVFPKTEAEWTASFFNAGTFREEQKCTYQFLMQGFICKQTDQVVLILDSADAIWAIQKLYPVVSVTSGFVDVFSSVNANIPCSTSGSVSTFYSILPIRQITKVCFMDQTPQVLRFFLLGNKSTSKLLLAVFYHELQSPHVFLGESFIPPTLVQSASLLLNESIGANYFNIMDNLLYVVLQGEEPIEIRSGVSIHLALTVMVSVLEKGWEIVILERLTNFLQIGQNQIRFIHEMPGHEETLKAIADSRAKRKRNCPTVTCTSHYRRVGQRRPLMMEMNSHRASPPMTVETISKVIVIEIGDSPTVRSTGMISSLSSNKLQNLAHRVITAQQTGVLENVLNMTIGALLVTQSKGVIGYGNTSSFKTGNLIYIRPYALSILVQPSDGEVGNELPVQPQLVFLDEQNRRVESLGPPSEPWTISASLEGASDSVLKGCTQAETQDGYVSFYNLAVLISGSNWHFIFTVTSPPGVNFTARSKPFAVLPVTRKEKSTIILAASLSSVASWLALSCLVCCWLKRSKSRKTKPEEIPESQTNNQNIHIHISSKRRESQGPKKEDTVVGEDMRMKVMLGKVNQCPHQLMNGVSRRKVSRHIVREEEAAVPAPGTTGITSHGHICAPGAPAQQVYLQETGNWKEGQEQLLRYQLAGQNQLLLLCPDFRQERQQLPGQSRLSKQSGSLGLSQEKKASCGATEAFCLHSVHPETIQEQL", "length": 4074, "header": "sp|P08F94-1|PKHD1_HUMAN Isoform 1 of Fibrocystin OS=Homo sapiens OX=9606 GN=PKHD1 PE=1 SV=1 CANONICAL=P08F94-1" }, "locus": { "chromosome": "6", "start_pos": 52084933, "end_pos": 51619084, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000371117.8", "url": "https://www.ensembl.org/id/ENST00000371117.8" }, { "database": "Ensembl Peptide", "id": "ENSP00000360158.3", "url": "https://www.ensembl.org/id/ENSP00000360158.3" } ] } }, { "isoform_ac": "P08F94-2", "url": "", "sequence": { "sequence": "MTAWLISLMSIEVLLLAVRHLSLHIEPEEGSLAGGTWITVIFDGLELGVLYPNNGSQLEIHLVNVNMVVPALRSVPCDVFPVFLDLPVVTCRTRSVLSEAHEGLYFLEAYFGGQLVSSPNPGPRDSCTFKFSKAQTPIVHQVYPPSGVPGKLIHVYGWIITGRLETFDFDAEYIDSPVILEAQGDKWVTPCSLINRQMGSCYPIQEDHGLGTLQCHVEGDYIGSQNVSFSVFNKGKSMVHKKAWLISAKQDLFLYQTHSEILSVFPETGSLGGRTNITITGDFFDNSAQVTIAGIPCDIRHVSPRKIECTTRAPGKDVRLTTPQPGNRGLLFEVGDAVEGLELTEATPGYRWQIVPNASSPFGFWSQEGQPFRARLSGFFVAPETNNYTFWIQADSQASLHFSWSEEPRTKVKVASISVGTADWFDSWEQNRDEGTWQQKTPKLELLGGAMYYLEAEHHGIAPSRGMRIGVQIHNTWLNPDVVTTYLREKHQIRVRAQRLPEVQVLNVSGRGNFFLTWDNVSSQPIPANATAHLIQTTIEELLAVKCKLEPLWSNILLRLGFERGPEVSNSDGDLTSGTEPFCGRFSLRQPRHLVLTPPAAQKGYRLDQYTHLCLAYKGHMNKILKMIVSFTIGFQNMVKNTTCDWSLTRTSPESWQFDCTDLWETCVRCFGDLQPPPANSPVLVHQINLLPLAQETGLFYVDEIIIADTNVTVSQADSGTARPGGNLVESVSVVGSPPVYSVTSWLAGCGTELPLITARSVPTEGTEEGSGLVLVTTQRRQRTSPPLGGHFRIQLPNTVISDVPVQISAHHLHQLLQNNADDFTSRYLNASDFTVKEDLYTCYEHVWTLSWSTQIGDLPNFIRVSDENLTGVNPAAATRVVYDGGVFLGPIFGDMLATANQHTQVVVRVNDVPAHCPGSCSFQYLQGSTPCVHSVWYSIDGDINLMIYITGTGFSGDSQFLQVTVNKTSCKVIFSNQTNVVCQTDLLPVGMHRILMLVRPSGLAISATGEDLFLNVKPRLDMVEPSRAADIGGLWATIRGSSLEGVSLILFGSYSCAINVATSNSSRIQCKVPPRGKDGRIVNVTVIRGDYSAVLPRAFTYVSSLNPVIVTLSRNISNIAGGETLVIGVARLMNYTDLDVEVHVQDALAPVHTQSAWGLEVALPPLPAGLHRISVSINGVSIHSQGVDLHIQYLTEVFSIEPCCGSLLGGTILSISGIGFSRDPALVWVLVGNRSCDIVNLTEASIWCETLPAPQIPDAGAPTVPAAVEVWAGNRFFARGPSPSLVGKGFTFMYEAAATPVVTAMQGEITNSSLSLHVGGSNLSNSVILLGNLNCDVETQSFQGNVSLSGCSIPLHSLEAGIYPLQVRQKQMGFANMSVVLQQFAVMPRIMAIFPSQGSACGGTILTVRGLLLNSRRRSVRVDLSGPFTCVILSLGDHTILCQVSLEGDPLPGASFSLNVTVLVNGLTSECQGNCTLFIREEASPVMDALSTNTSGSLTTVLIRGQRLATTADEPMVFVDDQLPCNVTFFNASHVVCQTRDLAPGPHYLSVFYTRNGYACSGNVSRHFYIMPQVFHYFPKNFSLHGGSLLTIEGTGLRGQNTTSVYIDQQTCLTVNIGAELIRCIVPTGNGSVALEIEVDGLWYHIGVIGYNKAFTPELISISQSDDILTFAVAQISGAANIDIFIGMSPCVGVSGNHTVLQCVVPSLPAGEYHVRGYDCIRGWASSALVFTSRVIITAVTENFGCLGGRLVHVFGAGFSPGNVSAAVCGAPCRVLANATVSAFSCLVLPLDVSLAFLCGLKREEDSCEAARHTYVQCDLTVAMATEQLLESWPYLYICEESSQCLFVPDHWAESMFPSFSGLFISPKLERDEVLIYNSSCNITMETEAEMECETPNQPITVKITEIRKRWGQNTQGNFSLQFCRRWSRTHSWFPERLPQDGDNVTVENGQLLLLDTNTSILNLLHIKGGKLIFMAPGPIELRAHAILVSDGGELRIGSEDKPFQGRAQITLYGSSYSTPFFPYGVKFLAVRNGTLSLHGSLPEVIVTCLRATAHALDTVLALEDAVDWNPGDEVVIISGTGVKGAKPMEEIVTVETVQDTDLYLKSPLRYSHNFTENWVAGEHHILKATVALLSRSITIQGNLTNEREKLLVSCQEANAPEGNLQHCLYSMSEKMLGSRDMGARVIVQSFPEEPSQVQLKGVQFQVLGQAFHKHLSSLTLVGAMRESFIQGCTVRNSFSRGLSMCGTLGLKVDSNVFYNILGHALLVGTCTEMRYISWEAIHGRKDDWSGHGNIIRNNVIIQVSGAEGLSNPEMLTPSGIYICSPTNVIEGNRVCGAGYGYFFHLMTNQTSQAPLLSFTQNIAHSCTRYGLFVYPKFQPPWDNVTGTTLFQSFTVWESAGGAQIFRSSNLRLKNFKVYSCRDFGIDVLESDANTSVTDSLLLGHFAHKGSLCMSSGIKTPKRWELMVSNTTFVNFDLINCVAIRTCSDCSQGQGGFTVKTSQLKFTNSSNLVAFPFPHAAILEDLDGSLSGKNRSHILASMETLSASCLVNSSFGRVVHGSACGGGVLFHRMSIGLANTPEVSYDLTMTDSRNKTTTVNYVRDTLSNPRGWMALLLDQETYSLQSENLWINRSLQYSATFDNFAPGNYLLLVHTDLPPYPDILLRCGSRVGLSFPFLPSPGQNQGCDWFFNSQLRQLTYLVSGEGQVQVILRVKEGMPPTISASTSAPESALKWSLPETWQGVEEGWGGYNNTIPGPGDDVLILPNRTVLVDTDLPFFKGLYVMGTLDFPVDRSNVLSVACMVIAGGELKVGTLENPLEKEQKLLILLRASEGVFCDRMNGIHIDPGTIGVYGKVHLYSAYPKNSWTHLGADIASGNERIIVEDAVDWRPHDKIVLSSSSYEPHEAEVLTVKEVKGHHVRIYERLKHRHIGSVHVTEDGRHIRLAAEVGLLTRNIQIQPDVSCRGRLFVGSFRKSSREEFSGVLQLLNVEIQNFGSPLYSSVEFSNVSAGSWIISSTLHQSCGGGIHAAASHGVLLNDNIVFGTAGHGIDLEGQAYTVTNNLVVLMTQPAWSTIWVAGIKVNQVKDINLHGNVVAGSERLGFHIRGHKCSSCELLWSDNVAHSSLHGLHLYKESGLDNCTRISGFLAFKNFDYGAMLHVENSVEIENITLVDNTIGLLAVVYVFSAPQNSVKKVQIVLRNSVIVATSSSFDCIQDKVKPHSANLTSTDRAPSNPRGGRIGILWPVFTSEPNQWPQEPWHKVRNDHSISGIMKLQDVTFSSFVKSCYSDDLDVCILPNAENSGIMHPITAERTRMLKIKDKNKFYFPSLQPRKDLGKVVCPELDCASPRKYLFKDLDGRALGLPPPVSVFPKTEAEWTASFFNAVTTEQALKISE", "length": 3396, "header": "sp|P08F94-2|PKHD1_HUMAN Isoform 2 of Fibrocystin OS=Homo sapiens OX=9606 GN=PKHD1 PE=1 SV=1 CANONICAL=P08F94-1" }, "locus": { "chromosome": "6", "start_pos": 52084933, "end_pos": 51721989, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000340994.4", "url": "https://www.ensembl.org/id/ENST00000340994.4" }, { "database": "Ensembl Peptide", "id": "ENSP00000341097.4", "url": "https://www.ensembl.org/id/ENSP00000341097.4" } ] } } ], "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 1065, "start_aa": "Asn", "end_pos": 1065, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1065", "evidence": [ { "id": "P08F94", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P08F94#ptm_processing" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 1084, "start_aa": "Asn", "end_pos": 1084, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1084", "evidence": [ { "id": "P08F94", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P08F94#ptm_processing" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 1116, "start_aa": "Asn", "end_pos": 1116, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1116", "evidence": [ { "id": "P08F94", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P08F94#ptm_processing" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 1135, "start_aa": "Asn", "end_pos": 1135, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1135", "evidence": [ { "id": "P08F94", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P08F94#ptm_processing" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 1234, "start_aa": "Asn", "end_pos": 1234, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1234", "evidence": [ { "id": "P08F94", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P08F94#ptm_processing" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 1241, "start_aa": "Asn", "end_pos": 1241, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1241", "evidence": [ { "id": "P08F94", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P08F94#ptm_processing" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 1312, "start_aa": "Asn", "end_pos": 1312, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1312", "evidence": [ { "id": "P08F94", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P08F94#ptm_processing" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 1323, "start_aa": "Asn", "end_pos": 1323, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1323", "evidence": [ { "id": "P08F94", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P08F94#ptm_processing" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 1346, "start_aa": "Asn", "end_pos": 1346, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1346", "evidence": [ { "id": "P08F94", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P08F94#ptm_processing" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 1377, "start_aa": "Asn", "end_pos": 1377, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1377", "evidence": [ { "id": "P08F94", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P08F94#ptm_processing" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 1460, "start_aa": "Asn", "end_pos": 1460, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1460", "evidence": [ { "id": "P08F94", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P08F94#ptm_processing" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 1475, "start_aa": "Asn", "end_pos": 1475, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1475", "evidence": [ { "id": "P08F94", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P08F94#ptm_processing" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 1494, "start_aa": "Asn", "end_pos": 1494, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1494", "evidence": [ { "id": "P08F94", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P08F94#ptm_processing" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": 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"https://www.ncbi.nlm.nih.gov/protein/NP_619639" } ], "reference": [ { "type": "PubMed", "id": "11898128", "url": "https://glygen.org/publication/PubMed/11898128" } ] }, { "title": "The gene mutated in autosomal recessive polycystic kidney disease encodes a large, receptor-like protein.", "journal": "Nature genetics", "date": "2002", "authors": "Ward CJ, Hogan MC, Rossetti S, Walker D, Sneddon T, Wang X, Kubly V, Cunningham JM, Bacallao R, Ishibashi M, Milliner DS, Torres VE, Harris PC", "evidence": [ { "database": "UniProtKB", "id": "P08F94", "url": "https://www.uniprot.org/uniprot/P08F94" }, { "database": "RefSeq", "id": "NP_619639", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_619639" } ], "reference": [ { "type": "PubMed", "id": "11919560", "url": "https://glygen.org/publication/PubMed/11919560" } ] }, { "title": "A novel gene encoding a TIG multiple domain protein is a positional candidate for autosomal recessive polycystic kidney disease.", "journal": "Genomics", "date": "2002", "authors": "Xiong Huaqi, Chen Yongxiong, Yi Yajun, Tsuchiya Karen, Moeckel Gilbert, Cheung Joseph, Liang Dan, Tham Kyi, Xu Xiaohu, Chen Xing-Zhen, Pei York, Zhao Zhizhuang Jeo, Wu Guanqing", "evidence": [ { "database": "UniProtKB", "id": "P08F94", "url": "https://www.uniprot.org/uniprot/P08F94" } ], "reference": [ { "type": "PubMed", "id": "12079288", "url": "https://glygen.org/publication/PubMed/12079288" } ] }, { "title": "Spectrum of mutations in the gene for autosomal recessive polycystic kidney disease (ARPKD/PKHD1).", "journal": "Journal of the American Society of Nephrology : JASN", "date": "2003", "authors": "Bergmann C, Senderek J, Sedlacek B, Pegiazoglou I, Puglia P, Eggermann T, Rudnik-Schoneborn S, Furu L, Onuchic LF, De Baca M, Germino GG, Guay-Woodford L, Somlo S, Moser M, Buttner R, Zerres K", "evidence": [ { "database": "UniProtKB", "id": "P08F94", "url": "https://www.uniprot.org/uniprot/P08F94" } ], "reference": [ { "type": "PubMed", "id": "12506140", "url": "https://glygen.org/publication/PubMed/12506140" } ] }, { "title": "A complete mutation screen of PKHD1 in autosomal-recessive polycystic kidney disease (ARPKD) pedigrees.", "journal": "Kidney international", "date": "2003", "authors": "Rossetti S, Torra R, Coto E, Consugar M, Kubly V, Malaga S, Navarro M, El-Youssef M, Torres VE, Harris PC", "evidence": [ { "database": "UniProtKB", "id": "P08F94", "url": "https://www.uniprot.org/uniprot/P08F94" } ], "reference": [ { "type": "PubMed", "id": "12846734", "url": "https://glygen.org/publication/PubMed/12846734" } ] }, { "title": "Milder presentation of recessive polycystic kidney disease requires presence of amino acid substitution mutations.", "journal": "Journal of the American Society of Nephrology : JASN", "date": "2003", "authors": "Furu L, Onuchic LF, Gharavi A, Hou X, Esquivel EL, Nagasawa Y, Bergmann C, Senderek J, Avner E, Zerres K, Germino GG, Guay-Woodford LM, Somlo S", "evidence": [ { "database": "UniProtKB", "id": "P08F94", "url": "https://www.uniprot.org/uniprot/P08F94" } ], "reference": [ { "type": "PubMed", "id": "12874454", "url": "https://glygen.org/publication/PubMed/12874454" } ] }, { "title": "The autosomal recessive polycystic kidney disease protein is localized to primary cilia, with concentration in the basal body area.", "journal": "J. Am. Soc. Nephrol.", "date": "2004", "authors": "Wang Shixuan, Luo Ying, Wilson Patricia D, Witman George B, Zhou Jing", "evidence": [ { "database": "UniProtKB", "id": "P08F94", "url": "https://www.uniprot.org/uniprot/P08F94" } ], "reference": [ { "type": "PubMed", "id": "14978161", "url": "https://glygen.org/publication/PubMed/14978161" } ] }, { "title": "PKHD1 mutations in autosomal recessive polycystic kidney disease (ARPKD).", "journal": "Hum. Mutat.", "date": "2004", "authors": "Bergmann Carsten, Senderek Jan, K\u00fcpper Fabian, Schneider Frank, Dornia Christian, Windelen Ellen, Eggermann Thomas, Rudnik-Sch\u00f6neborn Sabine, Kirfel Jutta, Furu Laszlo, Onuchic Luiz F, Rossetti Sandro, Harris Peter C, Somlo Stefan, Guay-Woodford Lisa, Germino Gregory G, Moser Markus, B\u00fcttner Reinhard, Zerres Klaus", "evidence": [ { "database": "UniProtKB", "id": "P08F94", "url": "https://www.uniprot.org/uniprot/P08F94" } ], "reference": [ { "type": "PubMed", "id": "15108277", "url": "https://glygen.org/publication/PubMed/15108277" } ] }, { "title": "PKHD1 mutations in families requesting prenatal diagnosis for autosomal recessive polycystic kidney disease (ARPKD).", "journal": "Human mutation", "date": "2004", "authors": "Bergmann C, Senderek J, Schneider F, Dornia C, Kupper F, Eggermann T, Rudnik-Schoneborn S, Kirfel J, Moser M, Buttner R, Zerres K", "evidence": [ { "database": "UniProtKB", "id": "P08F94", "url": "https://www.uniprot.org/uniprot/P08F94" } ], "reference": [ { "type": "PubMed", "id": "15108281", "url": "https://glygen.org/publication/PubMed/15108281" } ] }, { "title": "Polyductin, the PKHD1 gene product, comprises isoforms expressed in plasma membrane, primary cilium, and cytoplasm.", "journal": "Kidney Int.", "date": "2004", "authors": "Menezes Lu\u00eds F C, Cai Yiqiang, Nagasawa Yasuyuki, Silva Ana M G, Watkins Mary L, Da Silva Aline M, Somlo Stefan, Guay-Woodford Lisa M, Germino Gregory G, Onuchic Luiz F", "evidence": [ { "database": "UniProtKB", "id": "P08F94", "url": "https://www.uniprot.org/uniprot/P08F94" } ], "reference": [ { "type": "PubMed", "id": "15458427", "url": "https://glygen.org/publication/PubMed/15458427" } ] }, { "title": "Fibrocystin interacts with CAML, a protein involved in Ca2+ signaling.", "journal": "Biochem. Biophys. Res. Commun.", "date": "2005", "authors": "Nagano Junko, Kitamura Kenichiro, Hujer Kristine M, Ward Christopher J, Bram Richard J, Hopfer Ulrich, Tomita Kimio, Huang Chunfa, Miller R Tyler", "evidence": [ { "database": "UniProtKB", "id": "P08F94", "url": "https://www.uniprot.org/uniprot/P08F94" } ], "reference": [ { "type": "PubMed", "id": "16243292", "url": "https://glygen.org/publication/PubMed/16243292" } ] }, { "title": "Successful transplantation in a child with rapid progression of autosomal recessive polycystic kidney disease associated with a novel mutation.", "journal": "Pediatric transplantation", "date": "2006", "authors": "Prelog M, Bergmann C, Ausserlechner MJ, Fischer H, Margreiter R, Gassner I, Brunner A, Jungraithmayr TC, Zerres K, Sergi C, Zimmerhackl LB", "evidence": [ { "database": "UniProtKB", "id": "P08F94", "url": "https://www.uniprot.org/uniprot/P08F94" } ], "reference": [ { "type": "PubMed", "id": "16677362", "url": "https://glygen.org/publication/PubMed/16677362" } ] }, { "title": "Proteolytic cleavage and nuclear translocation of fibrocystin is regulated by intracellular Ca2+ and activation of protein kinase C.", "journal": "The Journal of biological chemistry", "date": "2006", "authors": "Hiesberger T, Gourley E, Erickson A, Koulen P, Ward CJ, Masyuk TV, Larusso NF, Harris PC, Igarashi P", "evidence": [ { "database": "UniProtKB", "id": "P08F94", "url": "https://www.uniprot.org/uniprot/P08F94" } ], "reference": [ { "type": "PubMed", "id": "16956880", "url": "https://glygen.org/publication/PubMed/16956880" } ] }, { "title": "The consensus coding sequences of human breast and colorectal cancers.", "journal": "Science (New York, N.Y.)", "date": "2006", "authors": "Sjoblom T, Jones S, Wood LD, Parsons DW, Lin J, Barber TD, Mandelker D, Leary RJ, Ptak J, Silliman N, Szabo S, Buckhaults P, Farrell C, Meeh P, Markowitz SD, Willis J, Dawson D, Willson JK, Gazdar AF, Hartigan J, Wu L, Liu C, Parmigiani G, Park BH, Bachman KE, Papadopoulos N, Vogelstein B, Kinzler KW, Velculescu VE", "evidence": [ { "database": "UniProtKB", "id": "P08F94", "url": "https://www.uniprot.org/uniprot/P08F94" } ], "reference": [ { "type": "PubMed", "id": "16959974", "url": "https://glygen.org/publication/PubMed/16959974" } ] }, { "title": "Polyductin undergoes notch-like processing and regulated release from primary cilia.", "journal": "Human molecular genetics", "date": "2007", "authors": "Kaimori JY, Nagasawa Y, Menezes LF, Garcia-Gonzalez MA, Deng J, Imai E, Onuchic LF, Guay-Woodford LM, Germino GG", "evidence": [ { "database": "UniProtKB", "id": "P08F94", "url": "https://www.uniprot.org/uniprot/P08F94" } ], "reference": [ { "type": "PubMed", "id": "17470460", "url": "https://glygen.org/publication/PubMed/17470460" } ] }, { "title": "Fibrocystin/polyductin modulates renal tubular formation by regulating polycystin-2 expression and function.", "journal": "J. Am. Soc. Nephrol.", "date": "2008", "authors": "Kim Ingyu, Fu Yulong, Hui Kwokyin, Moeckel Gilbert, Mai Weiyi, Li Cunxi, Liang Dan, Zhao Ping, Ma Jie, Chen Xing-Zhen, George Alfred L, Coffey Robert J, Feng Zhong-Ping, Wu Guanqing", "evidence": [ { "database": "UniProtKB", "id": "P08F94", "url": "https://www.uniprot.org/uniprot/P08F94" } ], "reference": [ { "type": "PubMed", "id": "18235088", "url": "https://glygen.org/publication/PubMed/18235088" } ] }, { "title": "PKHD1 sequence variations in 78 children and adults with autosomal recessive polycystic kidney disease and congenital hepatic fibrosis.", "journal": "Molecular genetics and metabolism", "date": "2010", "authors": "Gunay-Aygun M, Tuchman M, Font-Montgomery E, Lukose L, Edwards H, Garcia A, Ausavarat S, Ziegler SG, Piwnica-Worms K, Bryant J, Bernardini I, Fischer R, Huizing M, Guay-Woodford L, Gahl WA", "evidence": [ { "database": "UniProtKB", "id": "P08F94", "url": "https://www.uniprot.org/uniprot/P08F94" } ], "reference": [ { "type": 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"2015", "authors": "Tavira B, Gomez J, Malaga S, Santos F, Fernandez-Aracama J, Alonso B, Iglesias S, Benavides A, Hernando I, Plasencia A, Alvarez V, Coto E", "evidence": [ { "database": "UniProtKB", "id": "P08F94", "url": "https://www.uniprot.org/uniprot/P08F94" } ], "reference": [ { "type": "PubMed", "id": "25701400", "url": "https://glygen.org/publication/PubMed/25701400" } ] }, { "title": "Isolated polycystic liver disease genes define effectors of polycystin-1 function.", "journal": "The Journal of clinical investigation", "date": "2017", "authors": "Besse W, Dong K, Choi J, Punia S, Fedeles SV, Choi M, Gallagher AR, Huang EB, Gulati A, Knight J, Mane S, Tahvanainen E, Tahvanainen P, Sanna-Cherchi S, Lifton RP, Watnick T, Pei YP, Torres VE, Somlo S", "evidence": [ { "database": "UniProtKB", "id": "P08F94", "url": "https://www.uniprot.org/uniprot/P08F94" } ], "reference": [ { "type": "PubMed", "id": "28375157", "url": "https://glygen.org/publication/PubMed/28375157" } ] }, { "title": "Loss of fibrocystin promotes interleukin-8-dependent proliferation and CTGF production of biliary epithelium.", "journal": "Journal of hepatology", "date": "2019-07", "authors": "Tsunoda Tomoyuki, Kakinuma Sei, Miyoshi Masato, Kamiya Akihide, Kaneko Shun, Sato Ayako, Tsuchiya Jun, Nitta Sayuri, Kawai-Kitahata Fukiko, Murakawa Miyako, Itsui Yasuhiro, Nakagawa Mina, Azuma Seishin, Sogo Tsuyoshi, Komatsu Haruki, Mukouchi Ryutaro, Inui Ayano, Fujisawa Tomoo, Nakauchi Hiromitsu, Asahina Yasuhiro, Watanabe Mamoru", "evidence": [ { "database": "UniProtKB", "id": "P08F94", "url": "https://www.uniprot.org/uniprot/P08F94" } ], "reference": [ { "type": "PubMed", "id": "30898581", "url": "https://glygen.org/publication/PubMed/30898581" } ] }, { "title": "Possible PKHD1 Hot-spot Mutations Related to Early Kidney Function Failure or Hepatofibrosis in Chinese Children with ARPKD: A Retrospective Single Center Cohort Study and Literature Review.", "journal": "Current medical science", "date": "2020", "authors": "Qiu LR, Xu RR, Tang JH, Zhou JH", "evidence": [ { "database": "RefSeq", "id": "NP_619639", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_619639" } ], "reference": [ { "type": "PubMed", "id": "33123899", "url": "https://glygen.org/publication/PubMed/33123899" } ] }, { "title": "Refining genotype-phenotype correlations in 304 patients with autosomal recessive polycystic kidney disease and PKHD1 gene variants.", "journal": "Kidney international", "date": "2021", "authors": "Burgmaier K, Brinker L, Erger F, Beck BB, Benz MR, Bergmann C, Boyer O, Collard L, Dafinger C, Fila M, Kowalewska C, Lange-Sperandio B, Massella L, Mastrangelo A, Mekahli D, Miklaszewska M, Ortiz-Bruechle N, Patzer L, Prikhodina L, Ranchin B, Ranguelov N, Schild R, Seeman T, Sever L, Sikora P, Szczepanska M, Teixeira A, Thumfart J, Uetz B, Weber LT, Wuhl E, Zerres K, Dotsch J, Schaefer F, Liebau MC", "evidence": [ { "database": "RefSeq", "id": "NP_619639", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_619639" } ], "reference": [ { "type": "PubMed", "id": "33940108", "url": "https://glygen.org/publication/PubMed/33940108" } ] }, { "title": "Clinical features of autosomal recessive polycystic kidney disease in the Japanese population and analysis of splicing in PKHD1 gene for determination of phenotypes.", "journal": "Clinical and experimental nephrology", "date": "2022", "authors": "Ishiko S, Morisada N, Kondo A, Nagai S, Aoto Y, Okada E, Rossanti R, Sakakibara N, Nagano C, Horinouchi T, Yamamura T, Ninchoji T, Kaito H, Hamada R, Shima Y, Nakanishi K, Matsuo M, Iijima K, Nozu K", "evidence": [ { "database": "RefSeq", "id": "NP_619639", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_619639" } ], "reference": [ { "type": "PubMed", "id": "34536170", "url": "https://glygen.org/publication/PubMed/34536170" } ] }, { "title": "Rare variants in PKHD1 associated with Caroli syndrome: Two case reports.", "journal": "Molecular genetics & genomic medicine", "date": "2022-08", "authors": "Giacobbe Carola, Di Dato Fabiola, Palma Daniela, Amitrano Michele, Iorio Raffaele, Fortunato Giuliana", "evidence": [ { "database": "RefSeq", "id": "NP_619639", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_619639" } ], "reference": [ { "type": "PubMed", "id": "35715958", "url": "https://glygen.org/publication/PubMed/35715958" } ] }, { "title": "Studying the O-GlcNAcome of human placentas using banked tissue samples.", "journal": "Glycobiology", "date": "2024-01-22", "authors": "Luna Sarai, Malard Florian, Pereckas Michaela, Aoki Mayumi, Aoki Kazahiro, Olivier-Van Stichelen Stephanie", "evidence": [ { "database": "O-GlcNAc Database", "id": "P08F94", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P08F94" } ], "reference": [ { "type": "PubMed", "id": "38253038", "url": "https://glygen.org/publication/PubMed/38253038" } ] } ], "pathway": [ { "id": "hsa:5314", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:5314", "resource": "KEGG Pathway" } ], "orthologs": [ { "uniprot_canonical_ac": "A0A0G2K2W1-1", "protein_name": "PKHD1 ciliary IPT domain containing fibrocystin/polyductin", "gene_name": "Pkhd1", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "VMPAWRISLLSVELLLLANAYSSFRIEPTEGSLAGGTWITLVFDGLETSILYPNNGSQLAIDLVNVATPALKIPCDISPLFVDLPVVTCQTRSLPSEAPEGLYSLEIRSGDQLLGSPCARLLDNCTFKFSKEQTPVLYQVNPSSGVPGEVVHVYGWVITDRMEIFDPDVDYMESPLILEAGGDKWLTPCSLINRKTGICFPIQEEHGLGTVQCRVEGSYIGSQNVSFSVFNKGRSMVHKEAWLISAKQELFLYQTYPEIHSVFPKVGSLGGRTDITITGDFFDPSARVTIAGIPCDIRHVSPRKIECTTRAPGNGARLTAPQAGNRGLLFEVGNAVKDEELTEATPGYRWQIVPNASSPSGFWSKEGRPFRARLSGFFVAPETNNYTFWIQADSQAFLRFSSSEEPRMKVEVASIAVGTADWFDSWEQNGNEGSWQQKTNKLELQGGAKYYLEAEQHGIAPSRGMRIAVQIHNTWLNPDVVNTYLLEKHQIRAQAQRLPEIQVLNMSGKGNFFLTWGNVSSQPVPANATAQQIQTIIEELLVVKCNLVPLSARVLLWLGFEQGLDGSRSDGVLTSSTEPFCGRFSLGQLRHLILSPGAVSKGYQLDRYPYLCFAYRGHMNRTLDMTVSFLFGFQNVMKNITCDWSLMEPHPESWHFTCNNLWDTCVRHSEELQSSLANTPLLVHRIDIFPVVPEADLLYVDEIILADTNVTVSQADSGVARPGGNVVESVSVVGVPPVYSIASWMAGCGSELPLITACYVPTQGTGEGSELIEVTAKRLQRTSPPLGGHFSLHLSDTVIPDVPVHVSARQLHKLLQDNADESTSGYLNADDFIVTKDQNSCYEHVWTLSWTTQIGDLPNFIRVSDQNLTGLNPTITARVVYDGGVFLGPILGDTLATANQQTQVTVQVNDIPAHCSGSCSFQYQRASTPSVDCVWYSLGSDVNLLVHFTGNGFPRDAQFLQVTVINTSCEVIFSNETNVACELALLPVGVHRVFMLVRPSGLALNASGEGLFLRVEPRLDAVEPSTGAEIGGWWVTLRGSSLEGVSLVLFGTRSCVIDVIRSNSQQIQCKVPPRGKDGYTVNVTVINGDHSTVLARAFTYVSSLNPVIVSLSRNRSNIAGGEILFLGMTLMVNYTDLNVQIYIQNTSAQVLAKTAWGLEVLLPPLLPGIYVISAFINGISIRSQGVDLHIQYLTEVFSMEPCSGSLLGGTILRLSGAGLGRDPALIRVLVDNRPCDTVKLTEVNIWCETPRVLLPPRADVLTVPASVEIWAGNTSFVGKAFIFTYEAAATPVVTAMWGELMNNSVRFYVEGNNLSDSVILLGSLKCDLQVQLFGDNMNLSGCSLLLHSLEAGVYALQVRHKRMGFANMSAVPQKFELSPQIIDIFPTHGSIYGGTVLTVKGTAFRSRRRSVHVDLSGPFTCVILSLGDHTVLCQTKFVGDQFSETSLALNITVLVNGLTSKCEGNCTLFLEEAATPIVDALTISISGSLTTVLMRGQRLGSAGEPTAFVDGQLLCHTTFFNTSYVACQMRDLAPGFHYLSAVRTSAGYACLNSVSRNFFVVPQVFDYFPKDFSIHGGSLLTIKGTTLRGWKTTFVYVGQQACLTVNISSEFIQCIVPAGNGSAALEIDVDGVLYHMGFVDYSSIFTPELLSVSRSHDILTFTVARISGAANVDILIGTSPCLDVAGNRTILRCMVPLLPAGEYAVTGYDHSRGWVSSTLILVLRATVTSVTENYGCLGGRLLHVLGAGFSPGNISAAVCGAPCQVLANATVSAFSCLVLPLDASLAFLCNLRHAEDSCGVSRPTYLQCDLTVSVGMERLPGSWPYVYLCEESSQGLFVPDHQIFLSFSGLFLSPKVERDEVLIYNSSCNITMETEAEMECGTPNQPITAKITEIQKSRGQNTQGNFSFQFCRRWSRPHSWFPHRVPQDGDNVTVETSHLLLLDANTSLLNSLHIKGGKLIFMEPGPIDLRAHSILITDGGELHIGSEDKPFQGKARIKLYGSVHSTSFFPYGVKFLAVRNGTLSLHGSVPEVTFTYLRAAACAGDTVLALEEAVAWHPGDEAVISSGATVEGAEATEEVVVVETVHDADLHLRNPLRYSYNFTENWVTGVNHILKATVALLSRNIIVQGNLTLERVKLLDSCQEAGAAEGNLKHCLYSKSEKMLGARNLGARVIIQSFPEEPSLVKLKGVQFRDLGQAFHKHLSSLTLVGAMRGSYLHSCSMWGSFSRGLSIHRTWGLKVENNIFYKIVGHALLVGSYMDRSFSTSEAVIGRKNGWWEEGSMIRNNVIINVSGAEGLSSSEMLAPAGIYTFSPTSAIEGNRVCAAGYGYVLHLVTSQTVQAPLLSFNWNTAHSCTRYGLLVYPEFQPPWNNDTGFTLFQNFMVWGSAGGAQIFRSNNLHLRNFQVYACRDFGIDILESDTNTLVTDSFLLGHFTHEGSLCMSVGIKTPKRWGLTISNTTFVNFDLNCVAIRTCSGCSQGQGGFPVKTRQLKFVNSSNLVAFPFPHAAVLQDLDGSLSGKNGSHVLASMETLSDTCLTNASFSQIVSGSVCGEAVLFHRMSIGLAKSLDVPKNLTMTDIRNRTITINYVDDTLSNSYGWMALLLDQETYLLQFEGPWTDGSLQYSATFDNFAPGNYLLLMHRDLLPYPDILLRCGSRVGQSLPSHPLPSRDGACDWFFHRQLRQLTYLVSGEGQVHVFLQVKHGAPPTVSASTSVSESALKWSLPETWQDVEKGWGGYNHTIPGPGDDVLILPNKTVLVDTDLPVLRCLYVMGTLEFPVDRSNVLSVACLLIAGGELKVGTLENPLGKDQRLLILLRASEEIFCDRFDGIRVDPGTIGVYGKLRLHSAYPKKSWVHLGADIAPGNERIIVHNAVDWQPHDKIVLSSSSYEPHEAEVLTVKEVKDHHIRIYERLKHRHIGSAHTLEDSRQICLAAEVGLLTRNIRIQSDSSCRGRLLVGSFRKSSGEEFSGILQLLNVEIQNMGSPLYASIEFTGVSAGSWVISSTVHQSCTVGIHASSSRGMVLNDNIVFGTKGHGIDVEGQNYSLTNNLVILSMQSANSLPWVAGIKVNYAEDIILHGNVVAGSERLGFHVRGHGCSSEVLWSDNVVHSSLHGIHLYKKREPNNCTGVSGFLAFKNFDYGAMVQTENSVDIQNITLVDNTVGLLAISYVSSAPLRSGSTLQITLRNSVIVATSSSFDCIQDRKAPQSANWTSTDRAPSNPRGGRIGILWPVSASEPNGWPQEPWHKVRGGHSVPGIMKLQDVTFSSFVKSCYSDDLDVCILTNEHSTGIMYPITAERTRMLKIKDKNKFYFLPLQSGKDLVGTICPASSDCEIPRKYLFTDLDGRTLGLSPPVSVFPRIEEGWTGSFFNTGIFREEQKCTFRAMIQGFFCKQTEHAVLILDNVDVTWTIPKFYPLVSITNGFVDTFSIVKDSGLCFPTSSPSTFYSILPTRQMTKVCFPERTPPFLHFFLLANRRASKLILAVFYNEIQSPYVFLDKSFIPPTPVESAFSLLDEPVGANYFDIMNNLLYVVLQGEEAVEIRSSVSIHLALTVTFSVLEKGWEKAVLESLRGFFQIDQNQIRLTLEMPGNKETLKAIANSEGKRKRSCPTVTCAVPSSRYVQRRPLMAEMASFTITPATTLETFSKVIVFEIGDLPNARDSEFIQSLPSNRLQKLAHQVITAQQTGVLENVLGMTVGALLVAQSEGVTGYRNASSLITGNQIYTRPSVVSILVQPSDGEVGIELPIQPRLIFLDEKNERVEALGLPSEPWIISVSLEGTSESMLKGCTQAETQDGYVTFSRLAVLTSGSNWHLVFTVTFPPGTNLTARSKTFAVLPVAGKERSTIILALSLCSVASWVALSCLICCWFKKSKTRKIKPEDISESQAKEQKKNTHISSKPRELQVKTAKEDAMMGEDMRMKVMEGRQNQFSQHSMDGVSKRKVSRRAVPEERTATPALKIPRTTCVPGALPQQLTLPEPGNWQEAQQQLLRYQLAGRDQLLLLCPDLRQERQQGQEPSQLNKGSGRCMGLSQEKATCVPTETFCLHTAPPETIQ", "length": 4052 }, "evidence": [ { "id": "P08F94", "url": "https://omabrowser.org/oma/group/P08F94/", "database": "OMA" } ], "common_name": "Rat" }, { "uniprot_canonical_ac": "E9PZ36-1", "protein_name": "Fibrocystin", "gene_name": "Pkhd1", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MMLAWLVSLLSMEVLLLAKPYSSFQFEPAEGSLAGGTWITVVFDGLDRSILYPNNGSQLQIDLVSVAIPTLRIPCDVSPAFVDLPVVTCQTRSLPSEADAGPYSLEMRSGEQVLGTPCPGSLDSCTFKFSKDQTPVLYQVYPASGVPGEVVSVYGRVITTWLETFDPDVDYIESPLILEAREDKWLTPCSLINRQTGSCFPIQEEHGLGNVQCRVEGDYIGSQNVSFSVFNKGRSMVHKEAWLISAKQELFLYQTYPEILSVFPKVGSLGGRTDIIITGDFFDPSARVTIAGIPCDIRYVSPRKIECTTRAPGNEARLTAPQAGNRGLRFEVGDATKDVELTEATPGYRWQIVPNASSPSGFWSKEGRPFRARLSGFFVAPQTNNYTFWIQADSQASLCFSSSEEPRTKVEVASVGVGTADWFDSWEQIGNEGSWHQKTTKLELQGGAKYYLEAEQHGIAPSRGMRIGVQIHNTWLNPDVVNTYLLEKHQIRARAQRLPEIQVLHVSGKGNFFLTWGNVSSQPVPANATAQQIQTTIEELLVVKCNLAPFSAHVLLRLGFEQGLEGSRSDGVRTSSTEPFCGRFSLGQLGHLILIPEAADKGYQLDRYPYLCLAYRGHMNKTLDMTVSFLFGFQTIMKNITCDWSLTDPHPESWQFTCINLWDTCLCHSEDIQSSLANTPLLAHRIDIRPVVPEAGLLYVDEIILADTNVTVSQADSGRACPGGNVVESVSVVGVPPVYSISSWLAGCGSELPLITACSVSTEGTGDGSELIEVTAQRLQRTSPPLGGHFFLYLSDTVIPDVPVRMSARQLHKLLQDSADESTSGYLNAGDFTVTEDLNSCYEHVWTLSWTTQTGDLPNFIRVSDQNLTGVNPTVTARVVYDGGVFLGPIFGDMLATANQQTQVAVQVNDIPAYCSGSCSFQYQQESTPSVDHVWYSLGSDVNLLVHFTGTGFPRDTQFLQVTVNKTSCEVLFSNETNVACELALLPVGVHQIFMLVIPSGLAVHASGEDLLLHVEPRLDAVEPSTAAEIGGRWVTLRGSSLEGVSLVLFGTQSCVIDAIRSNSQQIQCKVPPRGKDGYTVNVTVISGDHSTVLARAFTYVSSLNPVIVSLSRNRSSIAGGEILFLGMSLLVNYTDLDVQIHVQDTSAQVLSQTAWGLEVVLPPLVPGIHVISAFINGVSIRSQGVDLYIQYLTEVFSVEPCSGSLLGGTLLSLLGTGLGRDPALIRVLVDNHPCDIVNLTEVNIWCETPPAVLPPRADVLTVLASVEIWAGNTSFFHGPSLVGKGFTFTYEAAATPVVTAMWGEFRNNSVRFYVEGSNISDSVILLGSLKCELEVQFFGDSMNLSGCFFPLHSLEAGVYTLQVRHKRMGFANMSVVPQKFELSPQIIAIFPTHGSKCGGTVLTVKGMAFSSRKRSVHVDISGPFACMILSLEDHTVLCQTRFVGDQFSEASLALNITVLVNGLTSKCKGNCTLFIEEAATPIVDALTISISGSLTMVLMRGRRLATTADEPIAFVDDQLPCHTTFFNTSHVACQIRDLAPGFHYLSAVHTSAGYACLNSVSRNFFIVPQVLDYFPKDFSIHGGSLLTIKGTALRGWKATVVYVGRQACLTVNFSSDFIQCIVPAGNGSAALEIDVNGVLYHIGLVDYSSIFTPELLSVSRSQDILTFTVARISGAANVDIFIGTSPCLGVAGNRTVLQCMVPLLPAGEYLVTGYDHSRGWASSTLILVLRATVTSVTKNYGCLGGRLLHVLGAGFSPGNISAAVCGAPCQVLANATVSAFSCLVLPLHVSLAFLCDLRHAEDSCKVRSSTYLRCDLTVSMGTERLPGSWPYVYLCEESSLCLFEPDHWTESVFPSFSGLFLSPKVERDEVLIYNSSCNITMETEAEMECEMPNQPITAKITEIQKSWGQNTQGNFSFQFCRRWSRPHSWFPQRVPHDGDSVTVETGHLLLLDANTSFLNSLHIKGGKLIFMDPGPIELRAHSILITDGGELHIGSEEKPFQGKARIKIYGSVHSTPFFPYGVKFLAVRNGTLSLHGSVPEVTVTYLQAAAHAGDKVLTLGEAVDWKPGDEAVITSGMTVAGAEATEVVVVETVHNADLHLRNPLRYSYDFRENWVAGENPILKPTVALLSRNIIIQGNFTLERVKLLNSCQEANTAKGNLKHCLYSKSEKMLGARDLGARVIIQSFPEEPSFVKLKGVQFRDLGQAFHKHLSSLALVGAMRGSYIQSCSVWNSFSRGLSMHRTWGLKVDSNVFYKIVGHALLLGSYLDGRFSTSETVTGRKNGWWEQGSTIRNNVIISVSAAEGLSGSEMLAPAGIYTFSPTNVMEGNRVCAAGYGYVFHLVTSQTLQAPLLSFNWNTAHSCTRYGLLVYPKFQPPWNNDTGFTLFQNFMVWGSAGGAQIFRSNNLHLKNFQVYACRDFGIDILESDANTLITDSFLLGHFTHKGSLCMSAGIKTPQRWELTISNTTFVNFDGNCVAIRTCSGCFQGQGGYTVKTRQLKFVNSSNLVAFPFPHAAVLEDLDGSLSGKNGSHVLASMETLSDTCLTNASFSQIVPGSVCGEAVLFHRMSIALANSLDVPKNLTITDISNKTITVNYVEDTLSNYYGWMALLLDQETYSLQFESPWMNRSLQYSATFDSFAPGNYLLIMHRDLPPYPDILLRCGSQVGHSLPFHPLPSQDRACDWFFNRQLRQLTYLVSGEGQVKVFLQLKPGVPPSVSASTSVPESASRWSLPETWQDVEKGWGGYNHTIPGPGDDVLILPNKTVLVDTDLPVLRCLYVMGTLEFPVDRSNVLSVACLLIAGGELKVGTLENPLEKDQRLLIFLRASEEVVCDYFEGIHVDPGTIGVYGKLRLHSAYPKKSWVHLGADIAPGNERIIVHNAVDWQPHDTIVLSSSSYEAHEAEVLTVKEVKGHHIRIYERLKHRHIGSTHTMEDGQQVHLAAEVGLLTRNIRIQPDSSCRGRLLVGSFRKSSGEDFSGVLQLLNVEIQNMGLPLYSSIEFTGVSAGSWVISSTVHQSCSVGIHASSSHGVILTDNVVFGTNGHGIDVEGQNYSLTNNLVILTMQSANSSPWVAGIKVNYAEDIILHGNVVAGSERLGFHVGGHGCSSEVLWSDNVVHSSLHGLHLYKKHESNNCTGVSGFMAFKNFDYGAMVQTENSVDIQNITLVDNTVGLLAITYVSSALLSSVSTVQITLRNSVIVATSSSFDCIHDRKAPQSANWTSTDRAPSNPRGGRIGILWPVSASEPNAWPQEPWHKVRSRHSVPGIMKLQDVTFSSFVKSCYSNDLDVCILPNEYSTGVMYPITAERTRMLGIKDKNKFYFPVLQSSKDLVGTICPTLVCEYPRKYLFTDLDGRTLGLPPPVSVFPRTEEEWTGSFLNTGIFREEQKCTFRAMNQGFFCKQTEHAVLILDNVDATWTIPKSHPLVSVTNGFVDTFSIVKDSDLCPPTSSLSTFYSILPTRQMTKVCFPEQTPPFLRFLLLGNQRASKLILAVFYNEIQSPHVFLDKSFIPPTPLESAFSLLAEPSGANYFDIMNNLLYVVLQGEEPVEIHSSVSIHLALTVTFSVLEKGWERAMLESLSDFFQIDPNQIRLTLEMPGNKETLEAIANSERKRKRNCPSVTCGGPSIRYGQRRPLMAEMTSLKITPATTLETFSKVIVIEVGDLPNIRNSEPIQSLPSNRLQRLVNQVITAQQTGALENVLGMTVGALLVTQSKGVTGYRNASSLITGNLIYTRPSELSILVQPSDGEVGIELPVQPRLVFLDEKNERVESLGLPSEPWIISVSLEGASESVLKGCTLAETRDGYVTFSRLAVLISGSNWHLFFTVISPPGTNFTARSRTFVVLPVASKERSTIILALSLCSVASWVALSCLVCCWFKKSKTRKIKPEDISESQAKEQKKNTHNSSKPRGLQAKTAKENTLMGEDMRMKVMQGMQSQFPQHSMDGVSKRKVSRLAVTEERTTTPAPKIPRITCVPGSLAQQLTLQEPGNWQEAQQQLLRYQLAGRNQLLLLRPDLRQERKQGQEPSQLDKGSDCTGLSQEKATCIPTETFSLHTAPPETIQ", "length": 4059 }, "evidence": [ { "id": "45935740", "url": "http://www.informatics.jax.org/homology/45935740", "database": "MGI" }, { "id": "P08F94", "url": "https://omabrowser.org/oma/group/P08F94/", "database": "OMA" } ], "common_name": "Mouse" } ], "go_annotation": { "categories": [ { "name": "Biological Process", "total": 24, "go_terms": [ { "name": "regulation of centrosome duplication", "id": "GO:0010824", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010824", "evidence": [ { "database": "UniProtKB", "id": "P08F94", "url": "https://www.uniprot.org/uniprot/P08F94" } ], "pmid": "" }, { "name": "negative regulation of epithelial cell apoptotic process", "id": "GO:1904036", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904036", "evidence": [ { "database": "UniProtKB", "id": "P08F94", "url": "https://www.uniprot.org/uniprot/P08F94" } ], "pmid": "" }, { "name": "positive regulation of cell population proliferation", "id": "GO:0008284", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008284", "evidence": [ { "database": "UniProtKB", "id": "P08F94", "url": "https://www.uniprot.org/uniprot/P08F94" } ], "pmid": "" }, { "name": "regulation of cell adhesion", "id": "GO:0030155", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030155", "evidence": [ { "database": "UniProtKB", "id": "P08F94", "url": "https://www.uniprot.org/uniprot/P08F94" } ], "pmid": "" }, { "name": "negative regulation of apoptotic process", "id": "GO:0043066", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043066", "evidence": [ { "database": "UniProtKB", "id": "P08F94", "url": "https://www.uniprot.org/uniprot/P08F94" } ], "pmid": "" }, { "name": "kidney development", "id": "GO:0001822", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001822", "evidence": [ { "database": "UniProtKB", "id": "P08F94", "url": "https://www.uniprot.org/uniprot/P08F94" } ], "pmid": "" }, { "name": "intracellular calcium ion homeostasis", "id": "GO:0006874", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006874", "evidence": [ { "database": "UniProtKB", "id": "P08F94", "url": "https://www.uniprot.org/uniprot/P08F94" } ], "pmid": "" }, { "name": "regulation of cell-cell adhesion", "id": "GO:0022407", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0022407", "evidence": [ { "database": "UniProtKB", "id": "P08F94", "url": "https://www.uniprot.org/uniprot/P08F94" } ], "pmid": "" }, { "name": "cell-cell adhesion", "id": "GO:0098609", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098609", "evidence": [ { "database": "UniProtKB", "id": "P08F94", "url": "https://www.uniprot.org/uniprot/P08F94" } ], "pmid": "" }, { "name": "negative regulation of NF-kappaB transcription factor activity", "id": "GO:0032088", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032088", "evidence": [ { "database": "UniProtKB", "id": "P08F94", "url": "https://www.uniprot.org/uniprot/P08F94" } ], "pmid": "" }, { "name": "cilium assembly", "id": "GO:0060271", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060271", "evidence": [ { "database": "UniProtKB", "id": "P08F94", "url": "https://www.uniprot.org/uniprot/P08F94" } ], "pmid": "" }, { "name": "homeostatic process", "id": "GO:0042592", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042592", "evidence": [ { "database": "UniProtKB", "id": "P08F94", "url": "https://www.uniprot.org/uniprot/P08F94" } ], "pmid": "" }, { "name": "epithelial cell morphogenesis", "id": "GO:0003382", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003382", "evidence": [ { "database": "UniProtKB", "id": "P08F94", "url": "https://www.uniprot.org/uniprot/P08F94" } ], "pmid": "" }, { "name": "negative regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction", "id": "GO:0051898", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051898", "evidence": [ { "database": "UniProtKB", "id": "P08F94", "url": "https://www.uniprot.org/uniprot/P08F94" } ], "pmid": "" }, { "name": "regulation of ERK1 and ERK2 cascade", "id": "GO:0070372", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070372", "evidence": [ { "database": "UniProtKB", "id": "P08F94", "url": "https://www.uniprot.org/uniprot/P08F94" } ], "pmid": "" }, { "name": "establishment of mitotic spindle orientation", "id": "GO:0000132", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000132", "evidence": [ { "database": "UniProtKB", "id": "P08F94", "url": "https://www.uniprot.org/uniprot/P08F94" } ], "pmid": "" }, { "name": "regulation of TOR signaling", "id": "GO:0032006", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032006", "evidence": [ { "database": "UniProtKB", "id": "P08F94", "url": "https://www.uniprot.org/uniprot/P08F94" } ], "pmid": "" }, { "name": "positive regulation of epithelial cell proliferation", "id": "GO:0050679", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050679", "evidence": [ { "database": "UniProtKB", "id": "P08F94", "url": "https://www.uniprot.org/uniprot/P08F94" } ], "pmid": "" }, { "name": "regulation of 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