{ "uniprot_canonical_ac": "O00337-1", "uniprot_ac": "O00337", "uniprot_id": "S28A1_HUMAN", "mass": { "chemical_mass": 71584.0, "monoisotopic_mass": 71584.0 }, "refseq": { "ac": "NP_001274691", "name": "sodium/nucleoside cotransporter 1 isoform 1", "summary": "", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001274691" }, "gene_names": [ { "name": "SLC28A1", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O00337", "id": "O00337" }, { "name": "CNT1; HCNT1; URCTU", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001274691", "id": "NP_001274691" }, { "name": "CNT1", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O00337", "id": "O00337" }, { "name": "SLC28A1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001274691", "id": "NP_001274691" } ], "protein_names": [ { "name": "Sodium/nucleoside cotransporter 1", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O00337" }, { "name": "CNT 1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O00337" }, { "name": "Concentrative nucleoside transporter 1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O00337" }, { "name": "Na(+)/nucleoside cotransporter 1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O00337" }, { "name": "Sodium-coupled nucleoside transporter 1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O00337" }, { "name": "Solute carrier family 28 member 1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O00337" }, { "name": "hCNT1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O00337" }, { "name": "sodium/nucleoside cotransporter 1 isoform 1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001274691", "id": "NP_001274691" }, { "name": "sodium/nucleoside cotransporter 1; concentrative nucleoside transporter 1; sodium-coupled nucleoside transporter 1; Na(+)/nucleoside cotransporter 1; solute carrier family 28 (sodium-coupled nucleoside transporter), member 1; solute carrier family 28 (concentrative nucleoside transporter), member 1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001274691", "id": "NP_001274691" } ], "function": [ { "annotation": "Characterization of deoxyribonucleoside transport mediated by concentrative nucleoside transporters.", "evidence": [ { "database": "RefSeq", "id": "NP_001274691", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001274691" }, { "database": "PubMed", "id": "33910126", "url": "https://glygen.org/publication/PubMed/33910126" } ] }, { "annotation": "Expression of the nucleoside transporters hENT1 (SLC29) and hCNT1 (SLC28) in pediatric acute myeloid leukemia.", "evidence": [ { "database": "RefSeq", "id": "NP_001274691", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001274691" }, { "database": "PubMed", "id": "32312148", "url": "https://glygen.org/publication/PubMed/32312148" } ] }, { "annotation": "Results that validate the newly developed structural homology model of CNT membrane architecture for human CNTs, revealed extended conformationally mobile regions within transport-domain TMs, identified pore-lining residues of functional importance, and provided evidence of an emerging novel elevator-type mechanism of transporter function.", "evidence": [ { "database": "RefSeq", "id": "NP_001274691", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001274691" }, { "database": "PubMed", "id": "28385889", "url": "https://glygen.org/publication/PubMed/28385889" } ] }, { "annotation": "Sodium and pyrimidine nucleoside symporter of the plasma membrane that imports uridine, thymidine and cytidine into cells by coupling their transport to the transmembrane sodium electrochemical gradient. Also transports adenosine, an atypical substrate transported with high apparent affinity, but low maximum velocity. Therefore, exhibits the transport characteristics of the nucleoside transport system cit or N2 subtype (N2/cit) (PubMed:9124315, PubMed:10455109, PubMed:14701834, PubMed:15194733, PubMed:21795683, PubMed:21998139, PubMed:32126230, PubMed:30658162). Involved in renal nucleoside (re)absorption (PubMed:30658162).", "evidence": [ { "database": "UniProtKB", "id": "O00337", "url": "https://www.uniprot.org/uniprot/O00337#function" }, { "database": "PubMed", "id": "10455109", "url": "https://glygen.org/publication/PubMed/10455109" }, { "database": "PubMed", "id": "30658162", "url": "https://glygen.org/publication/PubMed/30658162" }, { "database": "PubMed", "id": "9124315", "url": "https://glygen.org/publication/PubMed/9124315" }, { "database": "PubMed", "id": "21795683", "url": "https://glygen.org/publication/PubMed/21795683" }, { "database": "PubMed", "id": "21998139", "url": "https://glygen.org/publication/PubMed/21998139" }, { "database": "PubMed", "id": "15194733", "url": "https://glygen.org/publication/PubMed/15194733" }, { "database": "PubMed", "id": "14701834", "url": "https://glygen.org/publication/PubMed/14701834" }, { "database": "PubMed", "id": "32126230", "url": "https://glygen.org/publication/PubMed/32126230" } ] } ], "disease": [ { "disease_id": "MONDO:0032773", "recommended_name": { "id": "MONDO:0032773", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0032773", "name": "uridine-cytidineuria", "description": "" }, "synonyms": [ { "id": "MONDO:0032773", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0032773", "name": "uridine-cytidineuria", "description": "" }, { "id": "MONDO:0032773", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0032773", "name": "URCTU", "description": "" }, { "id": "MONDO:0032773", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0032773", "name": "URIDINE-CYTIDINEURIA", "description": "" }, { "id": "MIM:618477", "resource": "MIM", "url": "https://www.omim.org/entry/618477", "name": "Uridine-cytidineuria", "description": "Uridine-cytidineuria" } ], "evidence": [ { "id": "618477", "database": "MIM", "url": "https://www.omim.org/entry/618477" } ] } ], "snv": [ { "evidence": [ { "id": "O00337", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O00337" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 171, "end_pos": 171, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "D", "sequence_mut": "N", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-gain (DTS->NTS).", "chr_id": "15", "chr_pos": "84904146", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "D171", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "O00337", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O00337" }, { "id": "rs765376775", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs765376775" }, { "id": "rs765376775", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs765376775" }, { "id": "rs765376775", "database": "NCI-TCGA", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs765376775" }, { "id": "rs765376775", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs765376775#frequency_tab" }, { "id": "rs765376775", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs765376775" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 363, "end_pos": 363, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "D", "sequence_mut": "N", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-gain (DAT->NAT).", "chr_id": "15", "chr_pos": "84933148", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "D363", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] }, { "evidence": [ { "id": "rs776404211", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs776404211" }, { "id": "rs776404211", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs776404211" }, { "id": "rs776404211", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs776404211" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 411, "end_pos": 411, "sequence_org": "I", "sequence_mut": "T", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NLI->NLT).", "chr_id": "15", "chr_pos": "84935043", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I411", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs182952101", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs182952101" }, { "id": "rs182952101", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs182952101" }, { "id": "rs182952101", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs182952101" }, { "id": "rs182952101", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs182952101#frequency_tab" }, { "id": "rs182952101", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs182952101" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 429, "end_pos": 429, "sequence_org": "A", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NIA->NIS).", "chr_id": "15", "chr_pos": "84935096", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "0.0002", "site_lbl": "A429", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "O00337", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O00337" }, { "id": "rs182952101", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs182952101" }, { "id": "rs182952101", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs182952101" }, { "id": "rs182952101", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs182952101" }, { "id": "rs182952101", "database": "NCI-TCGA", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs182952101" }, { "id": "rs182952101", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs182952101#frequency_tab" }, { "id": "rs182952101", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs182952101" }, { "id": "22810696", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22810696" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 429, "end_pos": 429, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "A", "sequence_mut": "T", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-gain (NIA->NIT).", "chr_id": "15", "chr_pos": "84935096", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "A429", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "large intestine cancer", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "rs865855837", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs865855837" }, { "id": "rs865855837", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs865855837" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 445, "end_pos": 445, "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NAA->NAT).", "chr_id": "15", "chr_pos": "84935144", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A445", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs776874470", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs776874470" }, { "id": "rs776874470", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs776874470" }, { "id": "rs776874470", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs776874470#frequency_tab" }, { "id": "rs776874470", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs776874470" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 498, "end_pos": 498, "sequence_org": "F", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NEF->NES).", "chr_id": "15", "chr_pos": "84935430", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "F498", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1410913981", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1410913981" }, { "id": "rs1410913981", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1410913981" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 564, "end_pos": 564, "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (DFS->NFS).", "chr_id": "15", "chr_pos": "84944592", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D564", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs781086423", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs781086423" }, { "id": "rs781086423", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs781086423" }, { "id": "rs781086423", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs781086423#frequency_tab" }, { "id": "rs781086423", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs781086423" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 607, "end_pos": 607, "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NTT->NTI).", "chr_id": "15", "chr_pos": "84944813", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T607", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1596372142", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1596372142" }, { "id": "rs1596372142", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1596372142" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 607, "end_pos": 607, "sequence_org": "T", "sequence_mut": "P", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NTT->NTP).", "chr_id": "15", "chr_pos": "84944812", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T607", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs200446738", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs200446738" }, { "id": "rs200446738", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs200446738" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 643, "end_pos": 643, "sequence_org": "N", "sequence_mut": "K", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NHT->KHT).", "chr_id": "15", "chr_pos": "84945179", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N643", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1567194911", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1567194911" }, { "id": "rs1567194911", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1567194911" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 645, "end_pos": 645, "sequence_org": "T", "sequence_mut": "A", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NHT->NHA).", "chr_id": "15", "chr_pos": "84945183", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T645", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "O00337", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O00337" }, { "id": "rs893457579", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs893457579" }, { "id": "rs893457579", "database": "NCI-TCGA", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs893457579" }, { "id": "rs893457579", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs893457579#frequency_tab" }, { "id": "rs893457579", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs893457579" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 645, "end_pos": 645, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "T", "sequence_mut": "M", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-loss (NHT->NHM).", "chr_id": "15", "chr_pos": "84945184", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "T645", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] } ], "mutagenesis": [ { "start_pos": 318, "end_pos": 318, "sequence_org": "S", "sequence_mut": "G", "comment": "Changed pyrimidine- and adenosine-specific:sodium symporter activity. Decreased specificity for pyrimidine nucleosides enabling also the transport of inosine. Loss of specificity for pyrimidine nucleosides; when associated with M-319 and T-352.", "evidence": [ { "database": "UniProtKB", "id": "O00337", "url": "https://www.uniprot.org/uniprot/O00337" }, { "database": "PubMed", "id": "10455109", "url": "https://glygen.org/publication/PubMed/10455109" } ] }, { "start_pos": 319, "end_pos": 319, "sequence_org": "Q", "sequence_mut": "M", "comment": "Changed pyrimidine- and adenosine-specific:sodium symporter activity. Loss of specificity for pyrimidine nucleosides; when associated with G-318 and T-352.", "evidence": [ { "database": "UniProtKB", "id": "O00337", "url": "https://www.uniprot.org/uniprot/O00337" }, { "database": "PubMed", "id": "10455109", "url": "https://glygen.org/publication/PubMed/10455109" } ] }, { "start_pos": 352, "end_pos": 352, "sequence_org": "S", "sequence_mut": "T", "comment": "Changed pyrimidine- and adenosine-specific:sodium symporter activity. Loss of specificity for pyrimidine nucleosides; when associated with G-318 and M-319.", "evidence": [ { "database": "UniProtKB", "id": "O00337", "url": "https://www.uniprot.org/uniprot/O00337" }, { "database": "PubMed", "id": "10455109", "url": "https://glygen.org/publication/PubMed/10455109" } ] }, { "start_pos": 546, "end_pos": 546, "sequence_org": "S", "sequence_mut": "A", "comment": "No effect on localization to the apical plasma membrane. Loss of pyrimidine- and adenosine-specific:sodium symporter activity. Probably due to sodium uncoupling in the nucleoside translocation cycle.", "evidence": [ { "database": "UniProtKB", "id": "O00337", "url": "https://www.uniprot.org/uniprot/O00337" }, { "database": "PubMed", "id": "21998139", "url": "https://glygen.org/publication/PubMed/21998139" } ] }, { "start_pos": 546, "end_pos": 546, "sequence_org": "S", "sequence_mut": "C", "comment": "No effect on localization to the apical plasma membrane. Loss of pyrimidine- and adenosine-specific:sodium symporter activity. Probably due to sodium uncoupling in the nucleoside translocation cycle.", "evidence": [ { "database": "UniProtKB", "id": "O00337", "url": "https://www.uniprot.org/uniprot/O00337" }, { "database": "PubMed", "id": "21998139", "url": "https://glygen.org/publication/PubMed/21998139" } ] }, { "start_pos": 546, "end_pos": 546, "sequence_org": "S", "sequence_mut": "R", "comment": "No effect on localization to the apical plasma membrane. Loss of pyrimidine- and adenosine-specific:sodium symporter activity. Probably due to sodium uncoupling in the nucleoside translocation cycle.", "evidence": [ { "database": "UniProtKB", "id": "O00337", "url": "https://www.uniprot.org/uniprot/O00337" }, { "database": "PubMed", "id": "21998139", "url": "https://glygen.org/publication/PubMed/21998139" } ] }, { "start_pos": 546, "end_pos": 546, "sequence_org": "S", "sequence_mut": "T", "comment": "No effect on localization to the apical plasma membrane. Loss of pyrimidine- and adenosine-specific:sodium symporter activity. Probably due to sodium uncoupling in the nucleoside translocation cycle.", "evidence": [ { "database": "UniProtKB", "id": "O00337", "url": "https://www.uniprot.org/uniprot/O00337" }, { "database": "PubMed", "id": "21998139", "url": "https://glygen.org/publication/PubMed/21998139" } ] }, { "start_pos": 546, "end_pos": 546, "sequence_org": "S", "sequence_mut": "", "comment": "Loss of pyrimidine- and adenosine-specific:sodium symporter activity.", "evidence": [ { "database": "UniProtKB", "id": "O00337", "url": "https://www.uniprot.org/uniprot/O00337" }, { "database": "PubMed", "id": "21998139", "url": "https://glygen.org/publication/PubMed/21998139" } ] } ], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "85.54", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000156222", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000156222" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "44.01", "present": "ABSENT", "evidence": [ { "database": "Bgee", "id": "ENSG00000156222", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000156222" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "52.2", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000156222", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000156222" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "65.27", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000156222", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000156222" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "45.43", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000156222", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000156222" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "38.09", "present": "ABSENT", "evidence": [ { "database": "Bgee", "id": "ENSG00000156222", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000156222" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "64.22", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000156222", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000156222" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "44.26", "present": "ABSENT", "evidence": [ { "database": "Bgee", "id": "ENSG00000156222", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000156222" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "37.69", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000156222", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000156222" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "64.01", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000156222", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000156222" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "88.76", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000156222", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000156222" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "40.14", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000156222", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000156222" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "45.09", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000156222", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000156222" } ] } ], "expression_disease": [ { "significant": "Yes", "trend": "up", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "O00337", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O00337" } ], "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, on chromosome 7", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "predisposing for prostate cancer", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate carcinoma", "description": "Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma." }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate carcinoma", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, somatic", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, hereditary", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer aggressiveness", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "Prca1", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer susceptibility, X-linked", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "O00337", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O00337" } ], "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, intestinal", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Urinary bladder cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11054", "evidence": [ { "database": "BioXpress", "id": "O00337", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O00337" } ], "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": "down", "name": "Head and neck cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11934", "evidence": [ { "database": "BioXpress", "id": "O00337", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O00337" } ], "disease": [ { "disease_id": "DOID:11934", "recommended_name": { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck cancer", "description": "An organ system cancer that arises in the head or neck region. This region includes the nasal cavity, sinuses, lips, mouth, salivary glands, throat, or larynx." }, "synonyms": [ { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck tumours", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head/neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "tumor of head and neck", "description": "" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Lung cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1324", "evidence": [ { "database": "BioXpress", "id": "O00337", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O00337" } ], "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "adenocarcinoma of lung, susceptibility to", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "Nonsmall cell lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "alveolar cell carcinoma", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung neoplasm", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ] } ] }, { "significant": "No", "trend": "up", "name": "Breast cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1612", "evidence": [ { "database": "BioXpress", "id": "O00337", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O00337" } ], "disease": [ { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "A thoracic cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] } ] }, { "significant": "No", "trend": "down", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "O00337", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O00337" } ], "disease": [ { "disease_id": "DOID:1781", "recommended_name": { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid cancer", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage." }, "synonyms": [ { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid gland cancer", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "Thyroid gland neoplasm", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "malignant neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "malignant tumour of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid neoplasm", "description": "" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Kidney cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:263", "evidence": [ { "database": "BioXpress", "id": "O00337", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O00337" } ], "disease": [ { "disease_id": "DOID:263", "recommended_name": { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "kidney cancer", "description": "A urinary system cancer that is located_in the kidney." }, "synonyms": [ { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant neoplasm of kidney except pelvis", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant tumour of kidney", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "renal cancer", "description": "" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ { "database": "BioXpress", "id": "O00337", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O00337" } ], "disease": [ { "disease_id": "DOID:3571", "recommended_name": { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "liver cancer", "description": "A hepatobiliary system cancer that is located_in the liver." }, "synonyms": [ { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Ca liver - primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Resectable malignant neoplasm of Liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "hepatic cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "hepatic neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant hepato-biliary neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant tumor of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "non-resectable primary hepatic malignant neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "primary liver cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "primary malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "resectable malignant neoplasm of the liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, not specified as primary or secondary", "description": "" } ] } ] }, { "significant": "No", "trend": "down", "name": "Uterine cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:363", "evidence": [ { "database": "BioXpress", "id": "O00337", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O00337" } ], "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Esophageal cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:5041", "evidence": [ { "database": "BioXpress", "id": "O00337", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O00337" } ], "disease": [ { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Aerodigestive tract cancer, susceptibility to", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Escc, susceptibility to", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, susceptibility to", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "gastric cardia adenocarcinoma, susceptibility to", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ] } ] }, { "significant": "No", "trend": "up", "name": "Colorectal cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:9256", "evidence": [ { "database": "BioXpress", "id": "O00337", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O00337" } ], "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "large intestine cancer", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ] } ] } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O00337", "url": "https://www.uniprot.org/uniprot/O00337" } ], "common_name": "Human" } ], "gene": [ { "name": "SLC28A1", "url": "https://www.uniprot.org/uniprot/O00337", "locus": { "chromosome": "15", "start_pos": 84945798, "end_pos": 84884654, "strand": "-", "evidence": [ { "database": "Ensembl Gene", "id": "ENSG00000156222", "url": "https://www.ensembl.org/id/ENSG00000156222" } ] } } ], "crossref": [ { "id": "ENSG00000156222", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000156222", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "O00337", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O00337", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "CHEMBL5551", "url": "https://www.ebi.ac.uk/chembldb/target/inspect/CHEMBL5551", "database": "ChEMBL", "categories": [ "Other" ] }, { "id": "SLC28A1", "url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC28A1", "database": "GeneCards", "categories": [ "Gene Annotation", "Organism-specific" ] }, { "id": "9154", "url": "https://www.ncbi.nlm.nih.gov/gene/9154", "database": "GeneID", "categories": [ "Genome Annotation" ] }, { "id": "11001", "url": "https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=11001", "database": "HGNC", "categories": [ "Organism-specific" ] }, { "id": "O00337", "url": "https://www.ebi.ac.uk/intact/interactors/id:O00337*", "database": "IntAct", "categories": [ "Other" ] }, { "id": "IPR002668", "url": "https://www.ebi.ac.uk/interpro/entry/IPR002668", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR008276", "url": "https://www.ebi.ac.uk/interpro/entry/IPR008276", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR011642", "url": "https://www.ebi.ac.uk/interpro/entry/IPR011642", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR011657", "url": "https://www.ebi.ac.uk/interpro/entry/IPR011657", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR018270", "url": "https://www.ebi.ac.uk/interpro/entry/IPR018270", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "hsa:9154", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:9154", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "606207", "url": "http://www.omim.org/entry/606207", "database": "MIM", "categories": [ "Other" ] }, { "id": "618477", "url": "http://www.omim.org/entry/618477", "database": "MIM", "categories": [ "Other" ] }, { "id": "NX_O00337", "url": "https://www.nextprot.org/entry/NX_O00337", "database": "neXtProt", "categories": [ "Protein", "Organism-specific" ] }, { "id": "IVWHTVI", "url": "https://omabrowser.org/oma/group/IVWHTVI/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "1333063at2759", "url": "http://www.orthodb.org/?query=1333063at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR10590", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR10590", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR10590:SF16", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR10590:SF16", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PF01773", "url": "http://pfam.xfam.org/family/PF01773", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF07662", "url": "http://pfam.xfam.org/family/PF07662", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF07670", "url": "http://pfam.xfam.org/family/PF07670", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "O00337", "url": "https://pharos.nih.gov/targets/O00337", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR_O00337", "url": "http://purl.obolibrary.org/obo/PR_O00337", "database": "PRO", "categories": [ "Protein" ] }, { "id": "R-HSA-83936", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-83936", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "NP_001274691", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001274691", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "69887", "url": "https://www.rhea-db.org/rhea/69887", "database": "Rhea", "categories": [ "Enzyme and Pathway" ] }, { "id": "69891", "url": "https://www.rhea-db.org/rhea/69891", "database": "Rhea", "categories": [ "Enzyme and Pathway" ] }, { "id": "69895", "url": "https://www.rhea-db.org/rhea/69895", "database": "Rhea", "categories": [ "Enzyme and Pathway" ] }, { "id": "69927", "url": "https://www.rhea-db.org/rhea/69927", "database": "Rhea", "categories": [ "Enzyme and Pathway" ] }, { "id": "B7Z3L6", "url": "https://www.uniprot.org/uniprot/B7Z3L6", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "B7Z3L6-1", "url": "https://www.uniprot.org/uniprot/B7Z3L6-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O00337", "url": "https://www.uniprot.org/uniprot/O00337", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O00337-1", "url": "https://www.uniprot.org/uniprot/O00337-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O00337-2", "url": "https://www.uniprot.org/uniprot/O00337-2", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MENDPSRRRESISLTPVAKGLENMGADFLESLEEGQLPRSDLSPAEIRSSWSEAAPKPFSRWRNLQPALRARSFCREHMQLFRWIGTGLLCTGLSAFLLVACLLDFQRALALFVLTCVVLTFLGHRLLKRLLGPKLRRFLKPQGHPRLLLWFKRGLALAAFLGLVLWLSLDTSQRPEQLVSFAGICVFVALLFACSKHHCAVSWRAVSWGLGLQFVLGLLVIRTEPGFIAFEWLGEQIRIFLSYTKAGSSFVFGEALVKDVFAFQVLPIIVFFSCVISVLYHVGLMQWVILKIAWLMQVTMGTTATETLSVAGNIFVSQTEAPLLIRPYLADMTLSEVHVVMTGGYATIAGSLLGAYISFGIDATSLIAASVMAAPCALALSKLVYPEVEESKFRREEGVKLTYGDAQNLIEAASTGAAISVKVVANIAANLIAFLAVLDFINAALSWLGDMVDIQGLSFQLICSYILRPVAFLMGVAWEDCPVVAELLGIKLFLNEFVAYQDLSKYKQRRLAGAEEWVGDRKQWISVRAEVLTTFALCGFANFSSIGIMLGGLTSMVPQRKSDFSQIVLRALFTGACVSLVNACMAGILYMPRGAEVDCMSLLNTTLSSSSFEIYQCCREAFQSVNPEFSPEALDNCCRFYNHTICAQ", "length": 649, "header": "sp|O00337-1|S28A1_HUMAN Isoform 1 of Sodium/nucleoside cotransporter 1 OS=Homo sapiens OX=9606 GN=SLC28A1 PE=1 SV=2 CANONICAL=O00337-1" }, "isoforms": [ { "isoform_ac": "B7Z3L6-1", "url": "", "sequence": { "sequence": "MENDPSRRRESISLTPVAKGLENMGADFLESLEEGQLPRSDLSPAEIRSSWSEAAPKPFSRWRNLQPALRARSFCREHMQLFRWIGTGLLCTGLSAFLLVACLLDFQRALALFVLTCVVLTFLGHRLLKRLLGPKLRRFLKPQGHPRLLLWFKRGLALAAFLGLVLWLSLDTSQRPEQLVSFAGICVFVALLFACSKHHCAVSWRAVSWGLGLQFVLGLLVIRTEPGFIAFEWLGEQIRIFLSYTKAGSSFVFGEALVKDVFAFQVLPIIVFFSCVISVLYHVGLMQWVILKIAWLMQVTMGTTATETLSVAGNIFVSQTEAPLLIRPYLADMTLSEVHVVMTGGYATIAGSLLGAYISFGVRAEVLTTFALCGFANFSSIGIMLGGLTSMVPQRKSDFSQIVLRALFTGACVSLVNACMAGILYMPRGAEVDCMSLLNTTLSSSSFEIYQCCREAFQSVNPEFSPEALDNCCRFYNHTICAQ", "length": 483, "header": "tr|B7Z3L6-1|B7Z3L6_HUMAN Computationally mapped isoform of cDNA FLJ58165, highly similar to Sodium/nucleoside cotransporter 1 OS=Homo sapiens OX=9606 GN=SLC28A1 PE=1 SV=1 CANONICAL=O00337-1" }, "locus": { "chromosome": "15", "start_pos": 84945197, "end_pos": 84887761, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000538177.5", "url": "https://www.ensembl.org/id/ENST00000538177.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000443752.1", "url": "https://www.ensembl.org/id/ENSP00000443752.1" } ] } }, { "isoform_ac": "O00337-1", "url": "", "sequence": { "sequence": "MENDPSRRRESISLTPVAKGLENMGADFLESLEEGQLPRSDLSPAEIRSSWSEAAPKPFSRWRNLQPALRARSFCREHMQLFRWIGTGLLCTGLSAFLLVACLLDFQRALALFVLTCVVLTFLGHRLLKRLLGPKLRRFLKPQGHPRLLLWFKRGLALAAFLGLVLWLSLDTSQRPEQLVSFAGICVFVALLFACSKHHCAVSWRAVSWGLGLQFVLGLLVIRTEPGFIAFEWLGEQIRIFLSYTKAGSSFVFGEALVKDVFAFQVLPIIVFFSCVISVLYHVGLMQWVILKIAWLMQVTMGTTATETLSVAGNIFVSQTEAPLLIRPYLADMTLSEVHVVMTGGYATIAGSLLGAYISFGIDATSLIAASVMAAPCALALSKLVYPEVEESKFRREEGVKLTYGDAQNLIEAASTGAAISVKVVANIAANLIAFLAVLDFINAALSWLGDMVDIQGLSFQLICSYILRPVAFLMGVAWEDCPVVAELLGIKLFLNEFVAYQDLSKYKQRRLAGAEEWVGDRKQWISVRAEVLTTFALCGFANFSSIGIMLGGLTSMVPQRKSDFSQIVLRALFTGACVSLVNACMAGILYMPRGAEVDCMSLLNTTLSSSSFEIYQCCREAFQSVNPEFSPEALDNCCRFYNHTICAQ", "length": 649, "header": "sp|O00337-1|S28A1_HUMAN Isoform 1 of Sodium/nucleoside cotransporter 1 OS=Homo sapiens OX=9606 GN=SLC28A1 PE=1 SV=2 CANONICAL=O00337-1" }, "locus": { "chromosome": "15", "start_pos": 84945197, "end_pos": 84887761, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000286749.3", "url": "https://www.ensembl.org/id/ENST00000286749.3" }, { "database": "Ensembl Peptide", "id": "ENSP00000286749.3", "url": "https://www.ensembl.org/id/ENSP00000286749.3" } ] } }, { "isoform_ac": "O00337-2", "url": "", "sequence": { "sequence": "MENDPSRRRESISLTPVAKGLENMGADFLESLEEGQLPRSDLSPAEIRSSWSEAAPKPFSRWRNLQPALRARSFCREHMQLFRWIGTGLLCTGLSAFLLVACLLDFQRALALFVLTCVVLTFLGHRLLKRLLGPKLRRFLKPQGHPRLLLWFKRDPRPWSKEGPNQYLPQITWTV", "length": 175, "header": "sp|O00337-2|S28A1_HUMAN Isoform 2 of Sodium/nucleoside cotransporter 1 OS=Homo sapiens OX=9606 GN=SLC28A1 PE=1 SV=2 CANONICAL=O00337-1" }, "locus": { "chromosome": "15", "start_pos": 84895441, "end_pos": 84887761, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000338602.6", "url": "https://www.ensembl.org/id/ENST00000338602.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000341629.2", "url": "https://www.ensembl.org/id/ENSP00000341629.2" } ] } } ], "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 605, "start_aa": "Asn", "end_pos": 605, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn605", "evidence": [ { "id": "O00337", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O00337#ptm_processing" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 643, "start_aa": "Asn", "end_pos": 643, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn643", "evidence": [ { "id": "O00337", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O00337#ptm_processing" } ] } ], "phosphorylation": [], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_predicted" ], "publication": [ { "title": "Identification of amino acid residues responsible for the pyrimidine and purine nucleoside specificities of human concentrative Na(+) nucleoside cotransporters hCNT1 and hCNT2.", "journal": "The Journal of biological chemistry", "date": "1999", "authors": "Loewen SK, Ng AM, Yao SY, Cass CE, Baldwin SA, Young JD", "evidence": [ { "database": "UniProtKB", "id": "O00337", "url": "https://www.uniprot.org/uniprot/O00337" }, { "database": "Reactome", "id": "R-HSA-83936", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-83936" } ], "reference": [ { "type": "PubMed", "id": "10455109", "url": "https://glygen.org/publication/PubMed/10455109" } ] }, { "title": "Molecular identification and characterization of novel human and mouse concentrative Na+-nucleoside cotransporter proteins (hCNT3 and mCNT3) broadly selective for purine and pyrimidine nucleosides (system cib).", "journal": "The Journal of biological chemistry", "date": "2001", "authors": "Ritzel MW, Ng AM, Yao SY, Graham K, Loewen SK, Smith KM, Ritzel RG, Mowles DA, Carpenter P, Chen XZ, Karpinski E, Hyde RJ, Baldwin SA, Cass CE, Young JD", "evidence": [ { "database": "Reactome", "id": "R-HSA-83936", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-83936" } ], "reference": [ { "type": "PubMed", "id": "11032837", "url": "https://glygen.org/publication/PubMed/11032837" } ] }, { "title": "ARL2 and BART enter mitochondria and bind the adenine nucleotide transporter.", "journal": "Molecular biology of the cell", "date": "2002", "authors": "Sharer JD, Shern JF, Van Valkenburgh H, Wallace DC, Kahn RA", "evidence": [ { "database": "Reactome", "id": "R-HSA-83936", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-83936" } ], "reference": [ { "type": "PubMed", "id": "11809823", "url": "https://glygen.org/publication/PubMed/11809823" } ] }, { "title": "Electrophysiological characterization of the human Na(+)/nucleoside cotransporter 1 (hCNT1) and role of adenosine on hCNT1 function.", "journal": "The Journal of biological chemistry", "date": "2004-03-05", "authors": "Larr\u00e1yoz Ignacio M, Casado Francisco Javier, Pastor-Anglada Mar\u00e7al, Lostao M Pilar", "evidence": [ { "database": "UniProtKB", "id": "O00337", "url": "https://www.uniprot.org/uniprot/O00337" } ], "reference": [ { "type": "PubMed", "id": "14701834", "url": "https://glygen.org/publication/PubMed/14701834" } ] }, { "title": "Electrophysiological characterization of a recombinant human Na+-coupled nucleoside transporter (hCNT1) produced in Xenopus oocytes.", "journal": "The Journal of physiology", "date": "2004-08-01", "authors": "Smith Kyla M, Ng Amy M L, Yao Sylvia Y M, Labedz Kathy A, Knaus Edward E, Wiebe Leonard I, Cass Carol E, Baldwin Stephen A, Chen Xing-Zhen, Karpinski Edward, Young James D", "evidence": [ { "database": "UniProtKB", "id": "O00337", "url": "https://www.uniprot.org/uniprot/O00337" } ], "reference": [ { "type": "PubMed", "id": "15194733", "url": "https://glygen.org/publication/PubMed/15194733" } ] }, { "title": "Identification and characterization of a novel monoamine transporter in the human brain.", "journal": "The Journal of biological chemistry", "date": "2004", "authors": "Engel K, Zhou M, Wang J", "evidence": [ { "database": "Reactome", "id": "R-HSA-83936", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-83936" } ], "reference": [ { "type": "PubMed", "id": "15448143", "url": "https://glygen.org/publication/PubMed/15448143" } ] }, { "title": "Functional characterization of novel human and mouse equilibrative nucleoside transporters (hENT3 and mENT3) located in intracellular membranes.", "journal": "The Journal of biological chemistry", "date": "2005", "authors": "Baldwin SA, Yao SY, Hyde RJ, Ng AM, Foppolo S, Barnes K, Ritzel MW, Cass CE, Young JD", "evidence": [ { "database": "Reactome", "id": "R-HSA-83936", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-83936" } ], "reference": [ { "type": "PubMed", "id": "15701636", "url": "https://glygen.org/publication/PubMed/15701636" } ] }, { "title": "Distribution and functional characterization of equilibrative nucleoside transporter-4, a novel cardiac adenosine transporter activated at acidic pH.", "journal": "Circulation research", "date": "2006", "authors": "Barnes K, Dobrzynski H, Foppolo S, Beal PR, Ismat F, Scullion ER, Sun L, Tellez J, Ritzel MW, Claycomb WC, Cass CE, Young JD, Billeter-Clark R, Boyett MR, Baldwin SA", "evidence": [ { "database": "Reactome", "id": "R-HSA-83936", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-83936" } ], "reference": [ { "type": "PubMed", "id": "16873718", "url": "https://glygen.org/publication/PubMed/16873718" } ] }, { "title": "The H syndrome is caused by mutations in the nucleoside transporter hENT3.", "journal": "American journal of human genetics", "date": "2008", "authors": "Molho-Pessach V, Lerer I, Abeliovich D, Agha Z, Abu Libdeh A, Broshtilova V, Elpeleg O, Zlotogorski A", "evidence": [ { "database": "Reactome", "id": "R-HSA-83936", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-83936" } ], "reference": [ { "type": "PubMed", "id": "18940313", "url": "https://glygen.org/publication/PubMed/18940313" } ] }, { "title": "The structure of binder of Arl2 (BART) reveals a novel G protein binding domain: implications for function.", "journal": "The Journal of biological chemistry", "date": "2009", "authors": "Bailey LK, Campbell LJ, Evetts KA, Littlefield K, Rajendra E, Nietlispach D, Owen D, Mott HR", "evidence": [ { "database": "Reactome", "id": "R-HSA-83936", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-83936" } ], "reference": [ { "type": "PubMed", "id": "18981177", "url": "https://glygen.org/publication/PubMed/18981177" } ] }, { "title": "Crystal structure of the ARL2-GTP-BART complex reveals a novel recognition and binding mode of small GTPase with effector.", "journal": "Structure (London, England : 1993)", "date": "2009", "authors": "Zhang T, Li S, Zhang Y, Zhong C, Lai Z, Ding J", "evidence": [ { "database": "Reactome", "id": "R-HSA-83936", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-83936" } ], "reference": [ { "type": "PubMed", "id": "19368893", "url": "https://glygen.org/publication/PubMed/19368893" } ] }, { "title": "Nucleobase transport by human equilibrative nucleoside transporter 1 (hENT1).", "journal": "The Journal of biological chemistry", "date": "2011-09-16", "authors": "Yao Sylvia Y M, Ng Amy M L, Cass Carol E, Baldwin Stephen A, Young James D", "evidence": [ { "database": "UniProtKB", "id": "O00337", "url": "https://www.uniprot.org/uniprot/O00337" } ], "reference": [ { "type": "PubMed", "id": "21795683", "url": "https://glygen.org/publication/PubMed/21795683" } ] }, { "title": "Functional analysis of the human concentrative nucleoside transporter-1 variant hCNT1S546P provides insight into the sodium-binding pocket.", "journal": "American journal of physiology. Cell physiology", "date": "2012", "authors": "Cano-Soldado P, Gorraitz E, Errasti-Murugarren E, Casado FJ, Lostao MP, Pastor-Anglada M", "evidence": [ { "database": "UniProtKB", "id": "O00337", "url": "https://www.uniprot.org/uniprot/O00337" } ], "reference": [ { "type": "PubMed", "id": "21998139", "url": "https://glygen.org/publication/PubMed/21998139" } ] }, { "title": "Comprehensive molecular characterization of human colon and rectal cancer.", "journal": "Nature", "date": "2012", "authors": "Muzny DM, Bainbridge MN, Chang K, Dinh HH, Drummond JA, Fowler G, Kovar CL, Lewis LR, Morgan MB, Newsham IF, Reid JG, Santibanez J, Shinbrot E, Trevino LR, Wu YQ, Wang M, Gunaratne P, Donehower LA, Creighton CJ, Wheeler DA, Gibbs RA, Lawrence MS, Voet D, Jing R, Cibulskis K, Sivachenko A, Stojanov P, McKenna A, Lander ES, Gabriel S, Getz G, Ding L, Fulton RS, Koboldt DC, Wylie T, Walker J, Dooling DJ, Fulton L, Delehaunty KD, Fronick CC, Demeter R, Mardis ER, Wilson RK, Chu A, Chun HJ, Mungall AJ, Pleasance E, Robertson A, Stoll D, Balasundaram M, Birol I, Butterfield YS, Chuah E, Coope RJ, Dhalla N, Guin R, Hirst C, Hirst M, Holt RA, Lee D, Li HI, Mayo M, Moore RA, Schein JE, Slobodan JR, Tam A, Thiessen N, Varhol R, Zeng T, Zhao Y, Jones SJ, Marra MA, Bass AJ, Ramos AH, Saksena G, Cherniack AD, Schumacher SE, Tabak B, Carter SL, Pho NH, Nguyen H, Onofrio RC, Crenshaw A, Ardlie K, Beroukhim R, Winckler W, Getz G, Meyerson M, Protopopov A, Zhang J, Hadjipanayis A, Lee E, Xi R, Yang L, Ren X, Zhang H, Sathiamoorthy N, Shukla S, Chen PC, Haseley P, Xiao Y, Lee S, Seidman J, Chin L, Park PJ, Kucherlapati R, Auman JT, Hoadley KA, Du Y, Wilkerson MD, Shi Y, Liquori C, Meng S, Li L, Turman YJ, Topal MD, Tan D, Waring S, Buda E, Walsh J, Jones CD, Mieczkowski PA, Singh D, Wu J, Gulabani A, Dolina P, Bodenheimer T, Hoyle AP, Simons JV, Soloway M, Mose LE, Jefferys SR, Balu S, O'Connor BD, Prins JF, Chiang DY, Hayes D, Perou CM, Hinoue T, Weisenberger DJ, Maglinte DT, Pan F, Berman BP, Van Den Berg DJ, Shen H, Triche T Jr, Baylin SB, Laird PW, Getz G, Noble M, Voet D, Saksena G, Gehlenborg N, DiCara D, Zhang J, Zhang H, Wu CJ, Liu SY, Shukla S, Lawrence MS, Zhou L, Sivachenko A, Lin P, Stojanov P, Jing R, Park RW, Nazaire MD, Robinson J, Thorvaldsdottir H, Mesirov J, Park PJ, Chin L, Thorsson V, Reynolds SM, Bernard B, Kreisberg R, Lin J, Iype L, Bressler R, Erkkila T, Gundapuneni M, Liu Y, Norberg A, Robinson T, Yang D, Zhang W, Shmulevich I, de Ronde JJ, Schultz N, Cerami E, Ciriello G, Goldberg AP, Gross B, Jacobsen A, Gao J, Kaczkowski B, Sinha R, Aksoy B, Antipin Y, Reva B, Shen R, Taylor BS, Chan TA, Ladanyi M, Sander C, Akbani R, Zhang N, Broom BM, Casasent T, Unruh A, Wakefield C, Hamilton SR, Cason R, Baggerly KA, Weinstein JN, Haussler D, Benz CC, Stuart JM, Benz SC, Sanborn J, Vaske CJ, Zhu J, Szeto C, Scott GK, Yau C, Ng S, Goldstein T, Ellrott K, Collisson E, Cozen AE, Zerbino D, Wilks C, Craft B, Spellman P, Penny R, Shelton T, Hatfield M, Morris S, Yena P, Shelton C, Sherman M, Paulauskis J, Gastier-Foster JM, Bowen J, Ramirez NC, Black A, Pyatt R, Wise L, White P, Bertagnolli M, Brown J, Chan TA, Chu GC, Czerwinski C, Denstman F, Dhir R, Dorner A, Fuchs CS, Guillem JG, Iacocca M, Juhl H, Kaufman A, Kohl B 3rd, Van Le X, Mariano MC, Medina EN, Meyers M, Nash GM, Paty PB, Petrelli N, Rabeno B, Richards WG, Solit D, Swanson P, Temple L, Tepper JE, Thorp R, Vakiani E, Weiser MR, Willis JE, Witkin G, Zeng Z, Zinner MJ, Zornig C, Jensen MA, Sfeir R, Kahn AB, Chu AL, Kothiyal P, Wang Z, Snyder EE, Pontius J, Pihl TD, Ayala B, Backus M, Walton J, Whitmore J, Baboud J, Berton DL, Nicholls MC, Srinivasan D, Raman R, Girshik S, Kigonya PA, Alonso S, Sanbhadti RN, Barletta SP, Greene JM, Pot DA, Shaw KR, Dillon LA, Buetow K, Davidsen T, Demchok JA, Eley G, Ferguson M, Fielding P, Schaefer C, Sheth M, Yang L, Guyer MS, Ozenberger BA, Palchik JD, Peterson J, Sofia HJ, Thomson E", "evidence": [ { "database": "dbSNP", "id": "rs182952101", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs182952101" } ], "reference": [ { "type": "PubMed", "id": "22810696", "url": "https://glygen.org/publication/PubMed/22810696" } ] }, { "title": "The ARL2 GTPase is required for mitochondrial morphology, motility, and maintenance of ATP levels.", "journal": "PloS one", "date": "2014", "authors": "Newman LE, Zhou CJ, Mudigonda S, Mattheyses AL, Paradies E, Marobbio CM, Kahn RA", "evidence": [ { "database": "Reactome", "id": "R-HSA-83936", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-83936" } ], "reference": [ { "type": "PubMed", "id": "24911211", "url": "https://glygen.org/publication/PubMed/24911211" } ] }, { "title": "Molecular aspects of the adenine nucleotide carrier from mitochondria.", "journal": "Archives of biochemistry and biophysics", "date": "1989", "authors": "Klingenberg M", "evidence": [ { "database": "Reactome", "id": "R-HSA-83936", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-83936" } ], "reference": [ { "type": "PubMed", "id": "2648994", "url": "https://glygen.org/publication/PubMed/2648994" } ] }, { "title": "Substituted cysteine accessibility method (SCAM) analysis of the transport domain of human concentrative nucleoside transporter 3 (hCNT3) and other family members reveals features of structural and functional importance.", "journal": "The Journal of biological chemistry", "date": "2017", "authors": "Mulinta R, Yao SYM, Ng AML, Cass CE, Young JD", "evidence": [ { "database": "RefSeq", "id": "NP_001274691", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001274691" } ], "reference": [ { "type": "PubMed", "id": "28385889", "url": "https://glygen.org/publication/PubMed/28385889" } ] }, { "title": "Deficiency of perforin and hCNT1, a novel inborn error of pyrimidine metabolism, associated with a rapidly developing lethal phenotype due to multi-organ failure.", "journal": "Biochimica et biophysica acta. Molecular basis of disease", "date": "2019", "authors": "Perez-Torras S, Mata-Ventosa A, Drogemoller B, Tarailo-Graovac M, Meijer J, Meinsma R, van Cruchten AG, Kulik W, Viel-Oliva A, Bidon-Chanal A, Ross CJ, Wassermann WW, van Karnebeek CDM, Pastor-Anglada M, van Kuilenburg ABP", "evidence": [ { "database": "UniProtKB", "id": "O00337", "url": "https://www.uniprot.org/uniprot/O00337" } ], "reference": [ { "type": "PubMed", "id": "30658162", "url": "https://glygen.org/publication/PubMed/30658162" } ] }, { "title": "Functional disruption of pyrimidine nucleoside transporter CNT1 results in a novel inborn error of metabolism with high excretion of uridine and cytidine.", "journal": "Journal of inherited metabolic disease", "date": "2019", "authors": "Wevers RA, Christensen M, Engelke UFH, Geuer S, Coene KLM, Kwast JT, Lund AM, Vissers LELM", "evidence": [ { "database": "UniProtKB", "id": "O00337", "url": "https://www.uniprot.org/uniprot/O00337" } ], "reference": [ { "type": "PubMed", "id": "30847922", "url": "https://glygen.org/publication/PubMed/30847922" } ] }, { "title": "HPLC reveals novel features of nucleoside and nucleobase homeostasis, nucleoside metabolism and nucleoside transport.", "journal": "Biochimica et biophysica acta. Biomembranes", "date": "2020-07-01", "authors": "Altaweraqi Reema A, Yao Sylvia Y M, Smith Kyla M, Cass Carol E, Young James D", "evidence": [ { "database": "UniProtKB", "id": "O00337", "url": "https://www.uniprot.org/uniprot/O00337" } ], "reference": [ { "type": "PubMed", "id": "32126230", "url": "https://glygen.org/publication/PubMed/32126230" } ] }, { "title": "Expression of the nucleoside transporters hENT1 (SLC29) and hCNT1 (SLC28) in pediatric acute myeloid leukemia.", "journal": "Nucleosides, nucleotides & nucleic acids", "date": "2020", "authors": "Jaramillo AC, Hubeek I, Broekhuizen R, Pastor-Anglada M, Kaspers GJL, Jansen G, Cloos J, Peters GJ", "evidence": [ { "database": "RefSeq", "id": "NP_001274691", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001274691" } ], "reference": [ { "type": "PubMed", "id": "32312148", "url": "https://glygen.org/publication/PubMed/32312148" } ] }, { "title": "Characterization of deoxyribonucleoside transport mediated by concentrative nucleoside transporters.", "journal": "Biochemical and biophysical research communications", "date": "2021", "authors": "Yamamura T, Narumi K, Ohata T, Satoh H, Mori T, Furugen A, Kobayashi M, Iseki K", "evidence": [ { "database": "RefSeq", "id": "NP_001274691", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001274691" } ], "reference": [ { "type": "PubMed", "id": "33910126", "url": "https://glygen.org/publication/PubMed/33910126" } ] }, { "title": "Unspecific permeation and specific exchange of adenine nucleotides in liver mitochondria.", "journal": "Biochimica et biophysica acta", "date": "1965", "authors": "Pfaff E, Klingenberg M, Heldt HW", "evidence": [ { "database": "Reactome", "id": "R-HSA-83936", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-83936" } ], "reference": [ { "type": "PubMed", "id": "5840415", "url": "https://glygen.org/publication/PubMed/5840415" } ] }, { "title": "[Exchange between extra- and intramitochondrial adenine nucleotides].", "journal": "Biochimica et biophysica acta", "date": "1965", "authors": "Duee ED, Vignais PV", "evidence": [ { "database": "Reactome", "id": "R-HSA-83936", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-83936" } ], "reference": [ { "type": "PubMed", "id": "5857365", "url": "https://glygen.org/publication/PubMed/5857365" } ] }, { "title": "Cloning of a human nucleoside transporter implicated in the cellular uptake of adenosine and chemotherapeutic drugs.", "journal": "Nature medicine", "date": "1997", "authors": "Griffiths M, Beaumont N, Yao SY, Sundaram M, Boumah CE, Davies A, Kwong FY, Coe I, Cass CE, Young JD, Baldwin SA", "evidence": [ { "database": "Reactome", "id": "R-HSA-83936", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-83936" } ], "reference": [ { "type": "PubMed", "id": "8986748", "url": "https://glygen.org/publication/PubMed/8986748" } ] }, { "title": "Molecular cloning and functional expression of cDNAs encoding a human Na+-nucleoside cotransporter (hCNT1).", "journal": "The American journal of physiology", "date": "1997", "authors": "Ritzel MW, Yao SY, Huang MY, Elliott JF, Cass CE, Young JD", "evidence": [ { "database": "UniProtKB", "id": "O00337", "url": "https://www.uniprot.org/uniprot/O00337" }, { "database": "Reactome", "id": "R-HSA-83936", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-83936" } ], "reference": [ { "type": "PubMed", "id": "9124315", "url": "https://glygen.org/publication/PubMed/9124315" } ] }, { "title": "Na(+)-dependent purine nucleoside transporter from human kidney: cloning and functional characterization.", "journal": "The American journal of physiology", "date": "1997", "authors": "Wang J, Su SF, Dresser MJ, Schaner ME, Washington CB, Giacomini KM", "evidence": [ { "database": "Reactome", "id": "R-HSA-83936", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-83936" } ], "reference": [ { "type": "PubMed", "id": "9435697", "url": "https://glygen.org/publication/PubMed/9435697" } ] }, { "title": "Cloning of the human equilibrative, nitrobenzylmercaptopurine riboside (NBMPR)-insensitive nucleoside transporter ei by functional expression in a transport-deficient cell line.", "journal": "The Journal of biological chemistry", "date": "1998", "authors": "Crawford CR, Patel DH, Naeve C, Belt JA", "evidence": [ { "database": "Reactome", "id": "R-HSA-83936", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-83936" } ], "reference": [ { "type": "PubMed", "id": "9478986", "url": "https://glygen.org/publication/PubMed/9478986" } ] }, { "title": "The mitochondrial ADP/ATP carrier: structural, physiological and pathological aspects.", "journal": "Biochimie", "date": "1998", "authors": "Fiore C, Trezeguet V, Le Saux A, Roux P, Schwimmer C, Dianoux AC, Noel F, Lauquin GJ, Brandolin G, Vignais PV", "evidence": [ { "database": "Reactome", "id": "R-HSA-83936", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-83936" } ], "reference": [ { "type": "PubMed", "id": "9587671", "url": "https://glygen.org/publication/PubMed/9587671" } ] } ], "pathway": [ { "id": "hsa:9154", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:9154", "resource": "KEGG Pathway" }, { "id": "R-HSA-83936", "name": "Transport of nucleosides and free purine and pyrimidine bases across the plasma membrane", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-83936", "resource": "Reactome", "description": "Transport of nucleosides and free purine and pyrimidine bases across the plasma membrane" } ], "orthologs": [ { "uniprot_canonical_ac": "E9PXX9-1", "protein_name": "Sodium/nucleoside cotransporter 1", "gene_name": "Slc28a1", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MADDTPRQRESISLTPVAHGLENMGAEFLEIMEEGQLPHRHSSLPEGGGSRSKAVWKPFSRWRSLQPTVQARSLCREHWQLFEWISKGLLSTAYIGFLIVACLLDFPRALALFVITCVVLVFLAYNLLKRLLGSKLKKCVKFQGHSCLSLWLKRGLALAAGLGVILWLSLDTAQRPEQLVSFAGICVFLVLLFAGSKHHRAVSWRAVSWGLGLQFVLGLFVIRTEPGFVAFQWLGDQIRVFLSYTEAGSSFVFGEALVKDVFAFQVLPIIVFFSCVMSVLYYLGLMQWVILKIAWLMQVTMGTSATETLSVAGNIFVSQTEAPLLIRPYLADMTLSEVHVVMTGGYATIAGSLLGAYISFGIDASSLIAASVMAAPCALALSKLVYPEVEESKFRSEEGVKLTYGDAQNLVEAASAGAAISVKVVANIAANLIAFLAVLAFINAALSWLGDMVDIQGLSFQLICSYVLRPVAFLMGVAWEDCPVVAELLGIKLFLNEFVAYQELSQYKQRRLAGAEEWLGDKKQWISVRAEILTTYALCGFANFSSIGIMLGGLTSMVPQRRSDFSQIVLRALITGAFVSLVNACVAGILYVPRGVEVDCMSLLNQTVSSSSFEVYLCCRQVFQNTSLEFGQEALHNCCRFYNHTVCT", "length": 648 }, "evidence": [ { "id": "45921424", "url": "http://www.informatics.jax.org/homology/45921424", "database": "MGI" }, { "id": "O00337", "url": "https://omabrowser.org/oma/group/O00337/", "database": "OMA" } ], "common_name": "Mouse" }, { "uniprot_canonical_ac": "Q62674-1", "protein_name": "Sodium/nucleoside cotransporter 1", "gene_name": "Slc28a1", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "MADNTQRQRESISLTPMAHGLENMGAEFLESMEEGRLPHSHSSLPEGEGGLNKAERKAFSRWRSLQPTVQARSFCREHRQLFGWICKGLLSTACLGFLMVACLLDLQRALALLIITCVVLVFLAYDLLKRLLGSKLRRCVKFQGHSCLSLWLKRGLALAAGVGLILWLSLDTAQRPEQLVSFAGICVFLVLLFAGSKHHRAVSWRAVSWGLGLQFVLGLFVIRTEPGFIAFQWLGDQIQVFLSYTEAGSSFVFGEALVKDVFAFQVLPIIIFFSCVMSVLYYLGLMQWVILKIAWLMQVTMGTSATETLSVAGNIFVSQTEAPLLIRPYLADMTLSEVHVVMTGGYATIAGSLLGAYISFGIDAASLIAASVMAAPCALALSKLVYPEVEESKFRSENGVKLTYGDAQNLLEAASAGAAISVKVVANIAANLIAFLAVLAFVNAALSWLGDMVDIQGLSFQLICSYVLRPVAFLMGVAWEDCPVVAELLGIKFFLNEFVAYQELSQYKQRRLAGAEEWLGDKKQWISVRAEILTTYALCGFANFSSIGIMLGGLTSLVPQRRSDFSQIVLRALITGAFVSLLNACVAGILYVPRGVEVDCVSLLNQTVSSSSFEVYLCCRQVFQSTSSEFSQVALDNCCRFYNHTVCT", "length": 648 }, "evidence": [ { "id": "45921424", "url": "http://www.informatics.jax.org/homology/45921424", "database": "MGI" } ], "common_name": "Rat" }, { "uniprot_canonical_ac": "Q7K4A1-1", "protein_name": "Sodium/nucleoside cotransporter", "gene_name": "CNT2", "tax_id": 7227, "organism": "Drosophila melanogaster", "sequence": { "sequence": "MSAESSKGAINNGYELDHKELDIRDSEEFTEHPLDDTSEVANKKGYFEKNPKVARLVRISIYVLLHLCVVGYFSYATYHYHDITNYECYWKDNPLCGINFCTGYGMLLLLLGFIYLGLFYYYVFKPMVGHSLHRNYIKPFSKKWHNFSRTRVVSLASIALLLALLAIFVYFECRDETQKLVSLVAPCFFILCGYVFSTNRRAINWRIVITGITCQFLLGIFCIRWEVGRKIFECLGNKVATFLGYATDGAEFVFGDFLVNNNVFAFAILPVIFFFSFFISILYYMGTMQWVVIKLGWILQQILGTTVCESVTAAANIFLGMSESPLLIRPYINKLTKSEIHSIMVSGFATVSGTVLAAYLSFGASAAHLITSSVMAAPATLAISKLYMPETEESQTSSDSIELEKSQDSSLLDAASSGASNAVPIVLGIIANIVAFVAFIAFLNGLVSWFGYLVGLEQIDFEWIFSKLFIPLVWAMGVPKEDCDIIAKVVATKTIINEFVAYERLGQYIENNDITARSAGIATFAICGFANPSSLGILIGSLSAMAPHRRSTITAVAFRAFVVGSIVCFVSASFAGILIQEDDERANYNRIFEKLGRKNVTQF", "length": 603 }, "evidence": [ { "id": "O00337", "url": "https://omabrowser.org/oma/group/O00337/", "database": "OMA" } ], "common_name": "Fruit fly" } ], "go_annotation": { "categories": [ { "name": "Molecular Function", "total": 7, "go_terms": [ { "name": "cytidine transmembrane transporter activity", "id": "GO:0015212", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015212", "evidence": [ { "database": "UniProtKB", "id": "O00337", "url": "https://www.uniprot.org/uniprot/O00337" } ], "pmid": "" }, { "name": "uridine transmembrane transporter activity", "id": "GO:0015213", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015213", "evidence": [ { "database": "UniProtKB", "id": "O00337", "url": "https://www.uniprot.org/uniprot/O00337" } ], "pmid": "" }, { "name": "purine nucleobase transmembrane transporter activity", "id": "GO:0005345", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005345", "evidence": [ { "database": "UniProtKB", "id": "O00337", "url": "https://www.uniprot.org/uniprot/O00337" } ], "pmid": "" }, { "name": "nucleoside:sodium symporter activity", "id": "GO:0005415", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005415", "evidence": [ { "database": "UniProtKB", "id": "O00337", "url": "https://www.uniprot.org/uniprot/O00337" } ], "pmid": "" }, { "name": "pyrimidine- and adenosine-specific:sodium symporter activity", "id": "GO:0015389", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015389", "evidence": [ { "database": "UniProtKB", "id": "O00337", "url": "https://www.uniprot.org/uniprot/O00337" } ], "pmid": "" }, { "name": "azole transmembrane transporter activity", "id": "GO:1901474", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1901474", "evidence": [ { "database": "UniProtKB", "id": "O00337", "url": "https://www.uniprot.org/uniprot/O00337" } ], "pmid": "" }, { "name": "nucleoside transmembrane transporter activity", "id": "GO:0005337", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005337", "evidence": [ { "database": "UniProtKB", "id": "O00337", "url": "https://www.uniprot.org/uniprot/O00337" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 8, "go_terms": [ { "name": "cytidine transport", "id": "GO:0015861", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015861", "evidence": [ { "database": "UniProtKB", "id": "O00337", "url": "https://www.uniprot.org/uniprot/O00337" } ], "pmid": "" }, { "name": "uridine transport", "id": "GO:0015862", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015862", "evidence": [ { "database": "UniProtKB", "id": "O00337", "url": "https://www.uniprot.org/uniprot/O00337" } ], "pmid": "" }, { "name": "pyrimidine nucleobase transport", "id": "GO:0015855", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015855", "evidence": [ { "database": "UniProtKB", "id": "O00337", "url": "https://www.uniprot.org/uniprot/O00337" } ], "pmid": "" }, { "name": "nucleoside transmembrane transport", "id": "GO:1901642", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1901642", "evidence": [ { "database": "UniProtKB", "id": "O00337", "url": "https://www.uniprot.org/uniprot/O00337" } ], "pmid": "" }, { "name": "purine nucleobase transmembrane transport", "id": "GO:1904823", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904823", "evidence": [ { "database": "UniProtKB", "id": "O00337", "url": "https://www.uniprot.org/uniprot/O00337" } ], "pmid": "" }, { "name": "pyrimidine-containing compound transmembrane transport", "id": "GO:0072531", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072531", "evidence": [ { "database": "UniProtKB", "id": "O00337", "url": "https://www.uniprot.org/uniprot/O00337" } ], "pmid": "" }, { "name": "azole transmembrane transport", "id": "GO:0045117", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045117", "evidence": [ { "database": "UniProtKB", "id": "O00337", "url": "https://www.uniprot.org/uniprot/O00337" } ], "pmid": "" }, { "name": "nucleoside import across plasma membrane", "id": "GO:0180015", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0180015", "evidence": [ { "database": "UniProtKB", "id": "O00337", "url": "https://www.uniprot.org/uniprot/O00337" } ], "pmid": "" } ] }, { "name": "Cellular Component", "total": 5, "go_terms": [ { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "O00337", "url": "https://www.uniprot.org/uniprot/O00337" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "O00337", "url": "https://www.uniprot.org/uniprot/O00337" } ], "pmid": "" }, { "name": "nuclear speck", "id": "GO:0016607", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016607", "evidence": [ { "database": "UniProtKB", "id": "O00337", "url": "https://www.uniprot.org/uniprot/O00337" } ], "pmid": "" }, { "name": "apical plasma membrane", "id": "GO:0016324", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016324", "evidence": [ { "database": "UniProtKB", "id": "O00337", "url": "https://www.uniprot.org/uniprot/O00337" } ], "pmid": "" }, { "name": "brush border membrane", "id": "GO:0031526", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031526", "evidence": [ { "database": "UniProtKB", "id": "O00337", "url": "https://www.uniprot.org/uniprot/O00337" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [ { "start_pos": 543, "end_pos": 545, "annotation": "n_glycosylation_sequon" }, { "start_pos": 605, "end_pos": 607, "annotation": "n_glycosylation_sequon" }, { "start_pos": 643, "end_pos": 645, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [ { "annotation": "N-glycosylated. N-glycosylation is required for localization to the plasma membrane and the transporter activity.", "evidence": [ { "database": "UniProtKB", "id": "O00337", "url": "https://www.uniprot.org/uniprot/O00337" }, { "database": "PubMed", "id": "30658162", "url": "https://glygen.org/publication/PubMed/30658162" } ] } ], "interactions": [], "reactions": [ { "id": "69887", "name": "", "equation": "Na(+)(out) + uridine(out) = Na(+)(in) + uridine(in)", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [], "evidence": [ { "id": "69887", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/69887" } ] }, { "id": "69891", "name": "", "equation": "Na(+)(out) + thymidine(out) = Na(+)(in) + thymidine(in)", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [], "evidence": [ { "id": "69891", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/69891" } ] }, { "id": "69895", "name": "", "equation": "cytidine(out) + Na(+)(out) = cytidine(in) + Na(+)(in)", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [], "evidence": [ { "id": "69895", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/69895" } ] }, { "id": "69927", "name": "", "equation": "adenosine(out) + Na(+)(out) = adenosine(in) + Na(+)(in)", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [], "evidence": [ { "id": "69927", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/69927" } ] } ], "reaction_participants": [], "reaction_enzymes": [], "biomarkers": [], "synthesized_glycans": [], "cluster_types": [ { "name": "isoformset.uniprotkb", "label": "Isoforms" }, { "name": "homologset.mgi", "label": "MGI Homologs" }, { "name": "homologset.oma", "label": "OMA Homologs" } ], "sequence_features": { "n_linked_sites": [ 605, 643 ], "o_linked_sites": [], "snv_sites": [ 171, 363, 411, 429, 445, 498, 564, 607, 643, 645 ], "glycation_sites": [], "phosphorylation_sites": [], "sequon_annotation_sites": [ { "start_pos": 543, "end_pos": 545 }, { "start_pos": 605, "end_pos": 607 }, { "start_pos": 643, "end_pos": 645 } ] }, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 2 }, { "field": "total_sites", "count": 2 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 2 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 2 }, { "field": "total_sites", "count": 2 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 2 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 13 }, { "field": "total_sites", "count": 10 } ], "sort_fields": [ "start_pos", "end_pos", "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 4 }, { "field": "total_sites", "count": 4 } ], "sort_fields": [ "start_pos", "end_pos", "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 9 }, { "field": "total_sites", "count": 8 } ], "sort_fields": [ "start_pos", "end_pos", "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 29 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }