{ "uniprot_canonical_ac": "O96008-1", "uniprot_ac": "O96008", "uniprot_id": "TOM40_HUMAN", "mass": { "chemical_mass": 37893.0, "monoisotopic_mass": 37893.0 }, "refseq": { "ac": "NP_001122388", "name": "mitochondrial import receptor subunit TOM40 homolog", "summary": "The protein encoded by this gene is localized in the outer membrane of the mitochondria. It is the channel-forming subunit of the translocase of the mitochondrial outer membrane (TOM) complex that is essential for import of protein precursors into mitochondria. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Aug 2015].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001122388" }, "gene_names": [ { "name": "TOMM40", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O96008", "id": "O96008" }, { "name": "C19orf1; D19S1177E; PER-EC1; PEREC1; TOM40", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001122388", "id": "NP_001122388" }, { "name": "C19orf1", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O96008", "id": "O96008" }, { "name": "PEREC1", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O96008", "id": "O96008" }, { "name": "TOM40", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O96008", "id": "O96008" }, { "name": "TOMM40", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001122388", "id": "NP_001122388" } ], "protein_names": [ { "name": "Mitochondrial import receptor subunit TOM40 homolog", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O96008" }, { "name": "Protein Haymaker", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O96008" }, { "name": "Translocase of outer membrane 40 kDa subunit homolog", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O96008" }, { "name": "mitochondrial import receptor subunit TOM40 homolog", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001122388", "id": "NP_001122388" }, { "name": "mitochondrial outer membrane protein; p38.5; protein Haymaker; translocase of outer mitochondrial membrane 40 homolog; translocase of outer membrane 40 kDa subunit homolog", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001122388", "id": "NP_001122388" }, { "name": "p38.5", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O96008" } ], "function": [ { "annotation": "Alzheimer's disease cortical morphological phenotypes are associated with TOMM40'523-APOE haplotypes.", "evidence": [ { "database": "RefSeq", "id": "NP_001122388", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001122388" }, { "database": "PubMed", "id": "37804609", "url": "https://glygen.org/publication/PubMed/37804609" } ] }, { "annotation": "Channel-forming protein essential for import of protein precursors into mitochondria (PubMed:15644312, PubMed:31206022). Plays a role in the assembly of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I) by forming a complex with BCAP31 and mediating the translocation of Complex I components from the cytosol to the mitochondria (PubMed:31206022).", "evidence": [ { "database": "UniProtKB", "id": "O96008", "url": "https://www.uniprot.org/uniprot/O96008#function" }, { "database": "PubMed", "id": "31206022", "url": "https://glygen.org/publication/PubMed/31206022" }, { "database": "PubMed", "id": "15644312", "url": "https://glygen.org/publication/PubMed/15644312" } ] }, { "annotation": "Genotypic Effects of the TOMM40'523 Variant and APOE on Longitudinal Cognitive Change over 4 Years: The TOMMORROW Study.", "evidence": [ { "database": "RefSeq", "id": "NP_001122388", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001122388" }, { "database": "PubMed", "id": "37874111", "url": "https://glygen.org/publication/PubMed/37874111" } ] }, { "annotation": "MicroRNA-22-3p Restrains the Proliferation, Phenotypic Transformation, and Migration of Vascular Smooth Muscle Cells by Manipulating TOMM40.", "evidence": [ { "database": "RefSeq", "id": "NP_001122388", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001122388" }, { "database": "PubMed", "id": "36450556", "url": "https://glygen.org/publication/PubMed/36450556" } ] }, { "annotation": "TOMM40 '523 Genotype Distinguishes Patterns of Cognitive Improvement for Executive Function in APOEvarepsilon3 Homozygotes.", "evidence": [ { "database": "RefSeq", "id": "NP_001122388", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001122388" }, { "database": "PubMed", "id": "37718796", "url": "https://glygen.org/publication/PubMed/37718796" } ] }, { "annotation": "TOMM40 Genetic Variants Cause Neuroinflammation in Alzheimer's Disease. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001122388", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001122388" }, { "database": "PubMed", "id": "36835494", "url": "https://glygen.org/publication/PubMed/36835494" } ] }, { "annotation": "The protein encoded by this gene is localized in the outer membrane of the mitochondria. It is the channel-forming subunit of the translocase of the mitochondrial outer membrane (TOM) complex that is essential for import of protein precursors into mitochondria. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Aug 2015].", "evidence": [ { "database": "RefSeq", "id": "NP_001122388", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001122388" } ] } ], "disease": [], "snv": [ { "evidence": [ { "id": "rs1319065867", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1319065867" }, { "id": "rs1319065867", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1319065867" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 198, "end_pos": 198, "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (DFT->NFT).", "chr_id": "19", "chr_pos": "44894015", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D198", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1599945163", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1599945163" }, { "id": "rs1599945163", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1599945163" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 297, "end_pos": 297, "sequence_org": "T", "sequence_mut": "P", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (T->P).", "chr_id": "19", "chr_pos": "44901253", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T297", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1211297703", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1211297703" }, { "id": "rs1211297703", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1211297703#frequency_tab" }, { "id": "rs1211297703", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1211297703" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 51, "end_pos": 51, "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (SRS->NRS).", "chr_id": "19", "chr_pos": "44891567", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S51", "keywords": [ "ebi", "germline" ] } ], "mutagenesis": [], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "87.3", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000130204", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000130204" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "81.22", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000130204", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000130204" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "88.53", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000130204", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000130204" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "90.27", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000130204", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000130204" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "89.58", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000130204", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000130204" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "90.4", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000130204", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000130204" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "94.28", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000130204", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000130204" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "84.53", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000130204", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000130204" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "87.48", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000130204", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000130204" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "86.69", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000130204", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000130204" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "86.41", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000130204", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000130204" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "89.78", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000130204", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000130204" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "89.42", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000130204", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000130204" } ] } ], "expression_disease": [ { "significant": "Yes", "trend": "up", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "O96008", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O96008" } ], "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": 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"MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate carcinoma", "description": "Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma." }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate carcinoma", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, somatic", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, hereditary", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer aggressiveness", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL 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"name": "Prca1", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer susceptibility, X-linked", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, 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"http://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, intestinal", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Urinary bladder cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11054", "evidence": [ { "database": "BioXpress", "id": "O96008", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O96008" } ], "disease": [ { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Head and neck cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11934", "evidence": [ { "database": "BioXpress", "id": "O96008", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O96008" } ], "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": "O96008", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O96008" } ], "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "adenocarcinoma of lung, susceptibility to", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine 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"resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "Nonsmall cell lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "alveolar cell carcinoma", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung neoplasm", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Breast cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1612", "evidence": [ { "database": "BioXpress", "id": "O96008", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O96008" } ], "disease": [ { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "A thoracic cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "O96008", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O96008" } ], "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": "O96008", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O96008" } ], "disease": [ { "disease_id": "DOID:263", "recommended_name": { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "kidney cancer", "description": "A urinary system cancer that is located_in the kidney." }, "synonyms": [ { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant neoplasm of kidney except pelvis", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant tumour of kidney", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "renal cancer", "description": "" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ { "database": "BioXpress", "id": "O96008", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O96008" } ], "disease": [ { "disease_id": "DOID:3571", "recommended_name": { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "liver cancer", "description": "A hepatobiliary system cancer that is located_in the liver." }, "synonyms": [ { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Ca liver - primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Resectable malignant neoplasm of Liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "hepatic cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "hepatic neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant hepato-biliary neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant tumor of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": 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"https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O96008" } ], "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": "O96008", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O96008" } ], "disease": [ { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": 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"https://www.uniprot.org/uniprot/K7EJ57", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "K7EJ57-1", "url": "https://www.uniprot.org/uniprot/K7EJ57-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "K7EKG4", "url": "https://www.uniprot.org/uniprot/K7EKG4", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "K7EKG4-1", "url": "https://www.uniprot.org/uniprot/K7EKG4-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "K7EKG6", "url": "https://www.uniprot.org/uniprot/K7EKG6", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "K7EKG6-1", "url": "https://www.uniprot.org/uniprot/K7EKG6-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O96008", "url": "https://www.uniprot.org/uniprot/O96008", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O96008-1", "url": "https://www.uniprot.org/uniprot/O96008-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O96008-2", "url": "https://www.uniprot.org/uniprot/O96008-2", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MGNVLAASSPPAGPPPPPAPALVGLPPPPPSPPGFTLPPLGGSLGAGTSTSRSSERTPGAATASASGAAEDGACGCLPNPGTFEECHRKCKELFPIQMEGVKLTVNKGLSNHFQVNHTVALSTIGESNYHFGVTYVGTKQLSPTEAFPVLVGDMDNSGSLNAQVIHQLGPGLRSKMAIQTQQSKFVNWQVDGEYRGSDFTAAVTLGNPDVLVGSGILVAHYLQSITPCLALGGELVYHRRPGEEGTVMSLAGKYTLNNWLATVTLGQAGMHATYYHKASDQLQVGVEFEASTRMQDTSVSFGYQLDLPKANLLFKGSVDSNWIVGATLEKKLPPLPLTLALGAFLNHRKNKFQCGFGLTIG", "length": 361, "header": "sp|O96008-1|TOM40_HUMAN Isoform 1 of Mitochondrial import receptor subunit TOM40 homolog OS=Homo sapiens OX=9606 GN=TOMM40 PE=1 SV=1 CANONICAL=O96008-1" }, "isoforms": [ { "isoform_ac": "K7EJ57-1", "url": "", "sequence": { "sequence": "MGNVLAASSPPAGPPPPPAPALVGLPPPPPSPPGFTLPPLGGSLGAGTSTSRSSERTPGAATASASGAAEDGACGCLPNPGTFEECHRKCKELFPIQMEGVKLTVNKGLSNHFQVNHTVALSTIGESNYHFGVTYVGTKQLSPTEAFPVLVGDMDNSGSLNAQVIHQLGPGLRSKMAIQTQQSKFVNWQVDGEYRGSDFTAAVTLGNPDVLVGS", "length": 214, "header": "tr|K7EJ57-1|K7EJ57_HUMAN Computationally mapped isoform of Translocase of outer mitochondrial membrane 40 OS=Homo sapiens OX=9606 GN=TOMM40 PE=1 SV=8 CANONICAL=O96008-1" }, "locus": { "chromosome": "19", "start_pos": 44894065, "end_pos": 44891416, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000589649.1", "url": "https://www.ensembl.org/id/ENST00000589649.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000465032.1", "url": "https://www.ensembl.org/id/ENSP00000465032.1" } ] } }, { "isoform_ac": "K7EKG4-1", "url": "", "sequence": { "sequence": "XQVIHQLGPGLRSKMAIQTQQSKFVNWQVDGEYRGSDFTAAVTLGNPDVLVGSGILVAHYLQSITPCLALGGELVYHRRPGEEGTVMSLAGKYTLNNWLATVTLGQAGMHATYYHKASDQLQVGVEFEASTRMQDTSVSFGYQLDLPKANLLFKGKGLGSPTRETGRR", "length": 168, "header": "tr|K7EKG4-1|K7EKG4_HUMAN Computationally mapped isoform of Mitochondrial import receptor subunit TOM40 homolog OS=Homo sapiens OX=9606 GN=TOMM40 PE=1 SV=1 CANONICAL=O96008-1" }, "locus": { "chromosome": "19", "start_pos": 44901352, "end_pos": 44893829, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000592041.1", "url": "https://www.ensembl.org/id/ENST00000592041.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000465608.1", "url": "https://www.ensembl.org/id/ENSP00000465608.1" } ] } }, { "isoform_ac": "K7EKG6-1", "url": "", "sequence": { "sequence": "MGNVLAASSPPAGPPPPPAPALVGLPPPPPSPPGFT", "length": 36, "header": "tr|K7EKG6-1|K7EKG6_HUMAN Computationally mapped isoform of Translocase of outer mitochondrial membrane 40 OS=Homo sapiens OX=9606 GN=TOMM40 PE=4 SV=8 CANONICAL=O96008-1" }, "locus": { "chromosome": "19", "start_pos": 44891523, "end_pos": 44891416, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000589253.1", "url": "https://www.ensembl.org/id/ENST00000589253.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000465611.1", "url": "https://www.ensembl.org/id/ENSP00000465611.1" } ] } }, { "isoform_ac": "O96008-1", "url": "", "sequence": { "sequence": "MGNVLAASSPPAGPPPPPAPALVGLPPPPPSPPGFTLPPLGGSLGAGTSTSRSSERTPGAATASASGAAEDGACGCLPNPGTFEECHRKCKELFPIQMEGVKLTVNKGLSNHFQVNHTVALSTIGESNYHFGVTYVGTKQLSPTEAFPVLVGDMDNSGSLNAQVIHQLGPGLRSKMAIQTQQSKFVNWQVDGEYRGSDFTAAVTLGNPDVLVGSGILVAHYLQSITPCLALGGELVYHRRPGEEGTVMSLAGKYTLNNWLATVTLGQAGMHATYYHKASDQLQVGVEFEASTRMQDTSVSFGYQLDLPKANLLFKGSVDSNWIVGATLEKKLPPLPLTLALGAFLNHRKNKFQCGFGLTIG", "length": 361, "header": "sp|O96008-1|TOM40_HUMAN Isoform 1 of Mitochondrial import receptor subunit TOM40 homolog OS=Homo sapiens OX=9606 GN=TOMM40 PE=1 SV=1 CANONICAL=O96008-1" }, "locus": { "chromosome": "19", "start_pos": 44903166, "end_pos": 44891416, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000405636.6", "url": "https://www.ensembl.org/id/ENST00000405636.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000385184.2", "url": "https://www.ensembl.org/id/ENSP00000385184.2" } ] } }, { "isoform_ac": "O96008-2", "url": "", "sequence": { "sequence": "MGNVLAASSPPAGPPPPPAPALVGLPPPPPSPPGFTLPPLGGSLGAGTSTSRSSERTPGAATASASGAAEDGACGCLPNPGTFEECHRKCKELFPIQMEGVKLTVNKGLSNHFQVNHTVALSTIGESNYHFGVTYVGTKQLSPTEAFPVLVGDMDNSGSLNAQVIHQLGPGLRSKMAIQTQQSKFVNWQVDGEYRGSDFTAAVTLGNPDVLVGSGILVAHYLQSITPCLALGGELVYHRRPGEEGTVMSLAGKYTLNNWLATVTLGQAGMHATYYHKASDQLQVGVEFEASTRMQDTSVSFGYQLDLPKANLLFKGKGLGSPTRETGRR", "length": 329, "header": "sp|O96008-2|TOM40_HUMAN Isoform 2 of Mitochondrial import receptor subunit TOM40 homolog OS=Homo sapiens OX=9606 GN=TOMM40 PE=1 SV=1 CANONICAL=O96008-1" }, "locus": { "chromosome": "19", "start_pos": 44901351, "end_pos": 44891416, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000592434.5", "url": "https://www.ensembl.org/id/ENST00000592434.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000466084.1", "url": "https://www.ensembl.org/id/ENSP00000466084.1" } ] } } ], "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 297, "start_aa": "Thr", "end_pos": 297, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr297", "evidence": [ { "id": "O96008", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O96008" }, { "id": "23301498", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23301498" }, { "id": "35138101", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35138101" }, { "id": "34725712", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34725712" }, { "id": "34229054", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34229054" }, { "id": "35083852", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35083852" }, { "id": "33465208", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33465208" }, { "id": "O96008", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/O96008" } ] }, { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 298, "start_aa": "Ser", "end_pos": 298, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser298", "evidence": [ { "id": "O96008", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/O96008" }, { "id": "33465208", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33465208" } ] } ], "phosphorylation": [ { "start_pos": 338, "end_pos": 338, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O96008", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O96008" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Thr338" }, { "start_pos": 36, "end_pos": 36, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O96008", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O96008" }, { "database": "PubMed", "id": "32387766", "url": "" } ], "site_lbl": "Thr36" }, { "start_pos": 54, "end_pos": 54, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O96008", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O96008" }, { "database": "PubMed", "id": "22419819", "url": "https://glygen.org/publication/PubMed/22419819" } ], "site_lbl": "Ser54" } ], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_reported_with_glycan" ], "publication": [ { "title": "Sequencing of 42kb of the APO E-C2 gene cluster reveals a new gene: PEREC1.", "journal": "DNA Seq.", "date": "1998", "authors": "Freitas EM, Zhang WJ, Lalonde JP, Tay GK, Gaudieri S, Ashworth LK, Van Bockxmeer FM, Dawkins RL", "evidence": [ { "database": "UniProtKB", "id": "O96008", "url": "https://www.uniprot.org/uniprot/O96008" } ], "reference": [ { "type": "PubMed", "id": "10520737", "url": "https://glygen.org/publication/PubMed/10520737" } ] }, { "title": "Genetic identity and differential expression of p38.5 (Haymaker) in human malignant and non-malignant cells.", "journal": "Int. J. Cancer", "date": "2001", "authors": "Das B, Tao SZ, Mushnitsky R, Norin AJ", "evidence": [ { "database": "UniProtKB", "id": "O96008", "url": "https://www.uniprot.org/uniprot/O96008" } ], "reference": [ { "type": "PubMed", "id": "11745481", "url": "https://glygen.org/publication/PubMed/11745481" } ] }, { "title": "Insertion and assembly of human tom7 into the preprotein translocase complex of the outer mitochondrial membrane.", "journal": "J. Biol. Chem.", "date": "2002", "authors": "Johnston AJ, Hoogenraad J, Dougan DA, Truscott KN, Yano M, Mori M, Hoogenraad NJ, Ryan MT", "evidence": [ { "database": "UniProtKB", "id": "O96008", "url": "https://www.uniprot.org/uniprot/O96008" } ], "reference": [ { "type": "PubMed", "id": "12198123", "url": "https://glygen.org/publication/PubMed/12198123" } ] }, { "title": "Organization and function of the small Tim complexes acting along the import pathway of metabolite carriers into mammalian mitochondria.", "journal": "The Journal of biological chemistry", "date": "2004", "authors": "Muhlenbein N, Hofmann S, Rothbauer U, Bauer MF", "evidence": [ { "database": "Reactome", "id": "R-HSA-1268020", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1268020" } ], "reference": [ { "type": "PubMed", "id": "14726512", "url": "https://glygen.org/publication/PubMed/14726512" } ] }, { "title": "The calcium-binding aspartate/glutamate carriers, citrin and aralar1, are new substrates for the DDP1/TIMM8a-TIMM13 complex.", "journal": "Human molecular genetics", "date": "2004", "authors": "Roesch K, Hynds PJ, Varga R, Tranebjaerg L, Koehler CM", "evidence": [ { "database": "Reactome", "id": "R-HSA-1268020", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1268020" } ], "reference": [ { "type": "PubMed", "id": "15254020", "url": "https://glygen.org/publication/PubMed/15254020" } ] }, { "title": "Dissection of the mitochondrial import and assembly pathway for human Tom40.", "journal": "The Journal of biological chemistry", "date": "2005", "authors": "Humphries AD, Streimann IC, Stojanovski D, Johnston AJ, Yano M, Hoogenraad NJ, Ryan MT", "evidence": [ { "database": "UniProtKB", "id": "O96008", "url": "https://www.uniprot.org/uniprot/O96008" }, { "database": "Reactome", "id": "R-HSA-1268020", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1268020" } ], "reference": [ { "type": "PubMed", "id": "15644312", "url": "https://glygen.org/publication/PubMed/15644312" } ] }, { "title": "Augmenter of liver regeneration: a flavin-dependent sulfhydryl oxidase with cytochrome c reductase activity.", "journal": "Biochemistry", "date": "2005", "authors": "Farrell SR, Thorpe C", "evidence": [ { "database": "Reactome", "id": "R-HSA-1268020", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1268020" } ], "reference": [ { "type": "PubMed", "id": "15683237", "url": "https://glygen.org/publication/PubMed/15683237" } ] }, { "title": "Functional and mutational characterization of human MIA40 acting during import into the mitochondrial intermembrane space.", "journal": "Journal of molecular biology", "date": "2005", "authors": "Hofmann S, Rothbauer U, Muhlenbein N, Baiker K, Hell K, Bauer MF", "evidence": [ { "database": "Reactome", "id": "R-HSA-1268020", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1268020" } ], "reference": [ { "type": "PubMed", "id": "16185709", "url": "https://glygen.org/publication/PubMed/16185709" } ] }, { "title": "Degradation of the amyloid beta-protein by the novel mitochondrial peptidasome, PreP.", "journal": "The Journal of biological chemistry", "date": "2006", "authors": "Falkevall A, Alikhani N, Bhushan S, Pavlov PF, Busch K, Johnson KA, Eneqvist T, Tjernberg L, Ankarcrona M, Glaser E", "evidence": [ { "database": "Reactome", "id": "R-HSA-1268020", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1268020" } ], "reference": [ { "type": "PubMed", "id": "16849325", "url": "https://glygen.org/publication/PubMed/16849325" } ] }, { "title": "Conserved roles of Sam50 and metaxins in VDAC biogenesis.", "journal": "EMBO reports", "date": "2007", "authors": "Kozjak-Pavlovic V, Ross K, Benlasfer N, Kimmig S, Karlas A, Rudel T", "evidence": [ { "database": "Reactome", "id": "R-HSA-1268020", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1268020" } ], "reference": [ { "type": "PubMed", "id": "17510655", "url": "https://glygen.org/publication/PubMed/17510655" } ] }, { "title": "Multiple pathways for sorting mitochondrial precursor proteins.", "journal": "EMBO reports", "date": "2008", "authors": "Bolender N, Sickmann A, Wagner R, Meisinger C, Pfanner N", "evidence": [ { "database": "Reactome", "id": "R-HSA-1268020", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1268020" } ], "reference": [ { "type": "PubMed", "id": "18174896", "url": "https://glygen.org/publication/PubMed/18174896" } ] }, { "title": "Identification of Tom5 and Tom6 in the preprotein translocase complex of human mitochondrial outer membrane.", "journal": "Biochem. Biophys. Res. Commun.", "date": "2008", "authors": "Kato H, Mihara K", "evidence": [ { "database": "UniProtKB", "id": "O96008", "url": "https://www.uniprot.org/uniprot/O96008" } ], "reference": [ { "type": "PubMed", "id": "18331822", "url": "https://glygen.org/publication/PubMed/18331822" } ] }, { "title": "Step-size analyses of the mitochondrial Hsp70 import motor reveal the Brownian ratchet in operation.", "journal": "The Journal of biological chemistry", "date": "2008", "authors": "Yamano K, Kuroyanagi-Hasegawa M, Esaki M, Yokota M, Endo T", "evidence": [ { "database": "Reactome", "id": "R-HSA-1268020", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1268020" } ], "reference": [ { "type": "PubMed", "id": "18678864", "url": "https://glygen.org/publication/PubMed/18678864" } ] }, { "title": "The mitochondrial disulfide relay system protein GFER is mutated in autosomal-recessive myopathy with cataract and combined respiratory-chain deficiency.", "journal": "American journal of human genetics", "date": "2009", "authors": "Di Fonzo A, Ronchi D, Lodi T, Fassone E, Tigano M, Lamperti C, Corti S, Bordoni A, Fortunato F, Nizzardo M, Napoli L, Donadoni C, Salani S, Saladino F, Moggio M, Bresolin N, Ferrero I, Comi GP", "evidence": [ { "database": "Reactome", "id": "R-HSA-1268020", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1268020" } ], "reference": [ { "type": "PubMed", "id": "19409522", "url": "https://glygen.org/publication/PubMed/19409522" } ] }, { "title": "Mitochondrial accumulation of polyubiquitinated proteins and differential regulation of apoptosis by polyubiquitination sites Lys-48 and -63.", "journal": "Journal of cellular and molecular medicine", "date": "2009", "authors": "Sun F, Kanthasamy A, Anantharam V, Kanthasamy AG", "evidence": [ { "database": "Reactome", "id": "R-HSA-5205685", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5205685" } ], "reference": [ { "type": "PubMed", "id": "19432818", "url": "https://glygen.org/publication/PubMed/19432818" } ] }, { "title": "Multiple pathways for mitochondrial protein traffic.", "journal": "Biological chemistry", "date": "2009", "authors": "Endo T, Yamano K", "evidence": [ { "database": "Reactome", "id": "R-HSA-1268020", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1268020" } ], "reference": [ { "type": "PubMed", "id": "19453276", "url": "https://glygen.org/publication/PubMed/19453276" } ] }, { "title": "Roles of Tom70 in import of presequence-containing mitochondrial proteins.", "journal": "The Journal of biological chemistry", "date": "2009", "authors": "Yamamoto H, Fukui K, Takahashi H, Kitamura S, Shiota T, Terao K, Uchida M, Esaki M, Nishikawa S, Yoshihisa T, Yamano K, Endo T", "evidence": [ { "database": "Reactome", "id": "R-HSA-1268020", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1268020" } ], "reference": [ { "type": "PubMed", "id": "19767391", "url": "https://glygen.org/publication/PubMed/19767391" } ] }, { "title": "Genetic and biochemical studies of SNPs of the mitochondrial A beta-degrading protease, hPreP.", "journal": "Neuroscience letters", "date": "2010", "authors": "Pinho CM, Bjork BF, Alikhani N, Backman HG, Eneqvist T, Fratiglioni L, Glaser E, Graff C", "evidence": [ { "database": "Reactome", "id": "R-HSA-1268020", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1268020" } ], "reference": [ { "type": "PubMed", "id": "19962426", "url": "https://glygen.org/publication/PubMed/19962426" } ] }, { "title": "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.", "journal": "Science signaling", "date": "2010", "authors": "Olsen JV, Vermeulen M, Santamaria A, Kumar C, Miller ML, Jensen LJ, Gnad F, Cox J, Jensen TS, Nigg EA, Brunak S, Mann M", "evidence": [ { "database": "iPTMnet", "id": "O96008-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O96008-1" } ], "reference": [ { "type": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ] }, { "title": "PINK1 is selectively stabilized on impaired mitochondria to activate Parkin.", "journal": "PLoS biology", "date": "2010", "authors": "Narendra DP, Jin SM, Tanaka A, Suen DF, Gautier CA, Shen J, Cookson MR, Youle RJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-5205685", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5205685" } ], "reference": [ { "type": "PubMed", "id": "20126261", "url": "https://glygen.org/publication/PubMed/20126261" } ] }, { "title": "Structure of the human sulfhydryl oxidase augmenter of liver regeneration and characterization of a human mutation causing an autosomal recessive myopathy .", "journal": "Biochemistry", "date": "2010", "authors": "Daithankar VN, Schaefer SA, Dong M, Bahnson BJ, Thorpe C", "evidence": [ { "database": "Reactome", "id": "R-HSA-1268020", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1268020" } ], "reference": [ { "type": "PubMed", "id": 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"sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 3 }, { "field": "total_sites", "count": 3 } ], "sort_fields": [ "start_pos", "end_pos", "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 3 }, { "field": "total_sites", "count": 3 } ], "sort_fields": [ "start_pos", "end_pos", "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": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 3 }, { "field": "total_sites", "count": 3 } ], "sort_fields": [ "start_pos", "end_pos", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { 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