[ { "title": "[One of the etiological factors of digestive tract cancers in Chinese: the missense mutation Val384Asp in the hMLH1 gene].", "journal": "Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics", "date": "2000", "authors": "Wang Y, Zhou J, Li Z, Wang J, Li J, Gao C, Gao P", "reference": { "type": "PubMed", "id": "10751526", "url": "https://pubmed.ncbi.nlm.nih.gov/10751526" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P40692-1", "protein_name": "DNA mismatch repair protein Mlh1", "gene_name": "MLH1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P40692", "url": "https://www.uniprot.org/uniprotkb/P40692" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.10751526", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], 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Med.", "date": "2007", "authors": "Hitchins Megan P, Wong Justin J L, Suthers Graeme, Suter Catherine M, Martin David I K, Hawkins Nicholas J, Ward Robyn L", "reference": { "type": "PubMed", "id": "17301300", "url": "https://pubmed.ncbi.nlm.nih.gov/17301300" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P40692-1", "protein_name": "DNA mismatch repair protein Mlh1", "gene_name": "MLH1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P40692", "url": "https://www.uniprot.org/uniprotkb/P40692" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.17301300", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "uniprot_canonical_ac", 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"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": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] }, { "disease_id": "DOID:0070274", "recommended_name": { "id": "DOID:0070274", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070274", "name": "hereditary nonpolyposis colorectal cancer type 2", "description": "A Lynch syndrome that has_material_basis_in heterozygous mutation in the MLH1 gene on chromosome 3p22.2." }, "synonyms": [ { "id": "DOID:0070274", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070274", "name": "COCA2", "description": "" }, { "id": "DOID:0070274", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070274", "name": "FCC2", "description": "" }, { "id": "DOID:0070274", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070274", "name": "HNPCC2", "description": "" }, { "id": "DOID:0070274", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070274", "name": "familial nonpolyposis colon cancer type 2", "description": "" }, { "id": "MONDO:0012249", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012249", "name": "Lynch syndrome 2", "description": "An autosomal dominant hereditary neoplastic syndrome caused by pathogenic variants in the MLH1 mismatch repair gene. It is characterized by an increased risk of colorectal cancer in the absence of extensive polyposis, endometrial, ovarian, gastric, small intestinal, and urinary tract cancers, often occurring at younger ages." }, { "id": "MONDO:0012249", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012249", "name": "Hereditary non-polyposis colon cancer type 2", "description": "" }, { "id": "MONDO:0012249", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012249", "name": "Hereditary nonpolyposis colorectal cancer type 2", "description": "" }, { "id": "MONDO:0012249", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012249", "name": "Lynch 2 syndrome", "description": "" }, { "id": "MONDO:0012249", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012249", "name": "MLH1-related Lynch syndrome", "description": "" }, { "id": "MONDO:0012249", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012249", "name": "colorectal cancer, hereditary nonpolyposis, type 2", "description": "" }, { "id": "MONDO:0012249", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012249", "name": "familial non-polyposis colon cancer type 2", "description": "" }, { "id": "MONDO:0012249", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012249", "name": "COCA2", "description": "" }, { "id": "MONDO:0012249", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012249", "name": "HNPCC2", "description": "" }, { "id": "MIM:609310", "resource": "MIM", "url": "https://www.omim.org/entry/609310", "name": "Lynch syndrome 2", "description": "Lynch syndrome 2" } ], "unlinked_id_list": [], "evidence": [ { "id": "609310", "database": "MIM", "url": "https://www.omim.org/entry/609310" }, { "id": "0070274", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070274" } ] }, { "disease_id": "DOID:3883", "recommended_name": { "id": "DOID:3883", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3883", "name": "Lynch syndrome", "description": "A syndrome that is characterized by an increased risk for colon cancer and cancers of the endometrium, ovary, stomach, small intestine, hepatobiliary tract, urinary tract, brain, and skin and has_material_basis_in mutation of mismatch repair genes that increases the risk of many types of cancers." }, "synonyms": [ { "id": "DOID:3883", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3883", "name": "Hereditary Defective Mismatch Repair syndrome", "description": "" }, { "id": "DOID:3883", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3883", "name": "hereditary nonpolyposis colorectal cancer", "description": "" }, { "id": "DOID:3883", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3883", "name": "hereditary nonpolyposis colorectal neoplasm", "description": "" }, { "id": "DOID:3883", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3883", "name": "Hereditary non-polyposis colon cancer", "description": "" }, { "id": "DOID:3883", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3883", "name": "Hereditary non-polyposis colon cancer syndrome", "description": "" }, { "id": "DOID:3883", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3883", "name": "Hereditary non-polyposis colorectal cancer", "description": "" }, { "id": "DOID:3883", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3883", "name": "Hereditary nonpolyposis colon cancer", "description": "" }, { "id": "DOID:3883", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3883", "name": "Hereditary nonpolyposis colon cancer syndrome", "description": "" }, { "id": "DOID:3883", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3883", "name": "Hereditary nonpolyposis colorectal cancer syndrome", "description": "" }, { "id": "DOID:3883", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3883", "name": "Hereditary non-polyposis colorectal cancer syndrome", "description": "" }, { "id": "DOID:3883", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:3883", "name": "HNPCC", "description": "" }, { "id": "MONDO:0007356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007356", "name": "Lynch syndrome 1", "description": "An autosomal dominant hereditary neoplastic syndrome caused by pathogenic variants in the MSH2 mismatch repair gene. It is characterized by an increased risk of colorectal cancer in the absense of extensive polyposis, endometrial, ovarian, gastric, small intestinal, and urinary tract cancers, often occuring at younger ages." }, { "id": "MONDO:0007356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007356", "name": "HNPCC1", "description": "" }, { "id": "MONDO:0007356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007356", "name": "Hereditary non-polyposis colon cancer type 1", "description": "" }, { "id": "MONDO:0007356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007356", "name": "Lynch 1 syndrome", "description": "" }, { "id": "MONDO:0007356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007356", "name": "Lynch syndrome 1", "description": "" }, { "id": "MONDO:0007356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007356", "name": "Lynch syndrome type 1", "description": "" }, { "id": "MONDO:0007356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007356", "name": "MSH2-related Lynch syndrome", "description": "" }, { "id": "MONDO:0007356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007356", "name": "familial non-polyposis colon cancer type 1", "description": "" }, { "id": "MONDO:0007356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007356", "name": "hereditary nonpolyposis colorectal cancer type 1", "description": "" }, { "id": "MONDO:0007356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007356", "name": "COCA1", "description": "" }, { "id": "MIM:120435", "resource": "MIM", "url": "https://www.omim.org/entry/120435", "name": "Lynch syndrome 1", "description": "Lynch syndrome 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "3883", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3883" } ] }, { "disease_id": "DOID:0070271", "recommended_name": { "id": "DOID:0070271", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070271", "name": "Lynch syndrome 1", "description": "A Lynch syndrome that has_material_basis_in heterozygous mutations in the MSH2 gene on chromosome 2p21-p16." }, "synonyms": [ { "id": "DOID:0070271", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070271", "name": "FCC1", "description": "" }, { "id": "DOID:0070271", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070271", "name": "HNPCC1", "description": "" }, { "id": "DOID:0070271", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070271", "name": "familial nonpolyposis colon cancer type 1", "description": "" }, { "id": "DOID:0070271", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070271", "name": "hereditary nonpolyposis colorectal cancer type 1", "description": "" }, { "id": "DOID:0070271", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070271", "name": "COCA1", "description": "" }, { "id": "MONDO:0007356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007356", "name": "Lynch syndrome 1", "description": "An autosomal dominant hereditary neoplastic syndrome caused by pathogenic variants in the MSH2 mismatch repair gene. It is characterized by an increased risk of colorectal cancer in the absense of extensive polyposis, endometrial, ovarian, gastric, small intestinal, and urinary tract cancers, often occuring at younger ages." }, { "id": "MONDO:0007356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007356", "name": "HNPCC1", "description": "" }, { "id": "MONDO:0007356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007356", "name": "Hereditary non-polyposis colon cancer type 1", "description": "" }, { "id": "MONDO:0007356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007356", "name": "Lynch 1 syndrome", "description": "" }, { "id": "MONDO:0007356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007356", "name": "Lynch syndrome 1", "description": "" }, { "id": "MONDO:0007356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007356", "name": "Lynch syndrome type 1", "description": "" }, { "id": "MONDO:0007356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007356", "name": "MSH2-related Lynch syndrome", "description": "" }, { "id": "MONDO:0007356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007356", "name": "familial non-polyposis colon cancer type 1", "description": "" }, { "id": "MONDO:0007356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007356", "name": "hereditary nonpolyposis colorectal cancer type 1", "description": "" }, { "id": "MONDO:0007356", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007356", "name": "COCA1", "description": "" }, { "id": "MIM:120435", "resource": "MIM", "url": "https://www.omim.org/entry/120435", "name": "Lynch syndrome 1", "description": "Lynch syndrome 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "120435", "database": "MIM", "url": "https://www.omim.org/entry/120435" }, { "id": "0070271", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070271" } ] }, { "disease_id": "DOID:0112182", "recommended_name": { "id": "DOID:0112182", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112182", "name": "mismatch repair cancer syndrome", "description": "A syndrome characterized by predisposition for development of a broad spectrum of malignancies during childhood, including mainly brain, hematological and gastrointestinal cancers that has_material_basis_in homozygous or compound heterozygous mutation in the mismatch repair genes MLH1, MSH2, MSH6, or PMS2 on chromosomes 3p22.2, 2p21-p16, 2p16.3, and 7p22.1, respectively." }, "synonyms": [ { "id": "DOID:0112182", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112182", "name": "BTP1 syndrome", "description": "" }, { "id": "DOID:0112182", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112182", "name": "BTPS1", "description": "" }, { "id": "DOID:0112182", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112182", "name": "CMMR-D syndrome", "description": "" }, { "id": "DOID:0112182", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112182", "name": "CMMRDS", "description": "" }, { "id": "DOID:0112182", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112182", "name": "MMR deficiency", "description": "" }, { "id": "DOID:0112182", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112182", "name": "Turcot syndrome", "description": "" }, { "id": "DOID:0112182", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112182", "name": "brain tumor-polyposis syndrome 1", "description": "" }, { "id": "DOID:0112182", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112182", "name": "childhood cancer syndrome", "description": "" }, { "id": "DOID:0112182", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112182", "name": "constitutional mismatch repair deficiency syndrome", "description": "" }, { "id": "MONDO:0010159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010159", "name": "mismatch repair cancer syndrome 1", "description": "An autosomal recessive constitutional mismatch repair deficiency syndrome caused by pathogenic variants in the MLH1 mismatch repair gene. It is characterized by a high risk of childhood cancers, including hematological malignancies and brain tumors, as well as colorectal cancers with polyposis." }, { "id": "MONDO:0010159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010159", "name": "BTP1 syndrome", "description": "" }, { "id": "MONDO:0010159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010159", "name": "MLH1-related constitutional mismatch repair deficiency syndrome", "description": "" }, { "id": "MONDO:0010159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010159", "name": "MMRCS1", "description": "" }, { "id": "MONDO:0010159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010159", "name": "Turcot Syndrome", "description": "" }, { "id": "MONDO:0010159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010159", "name": "brain tumor-polyposis syndrome 1", "description": "" }, { "id": "MONDO:0010159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010159", "name": "mismatch repair cancer syndrome 1", "description": "" }, { "id": "MONDO:0010159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010159", "name": "CNS tumors with familial polyposis of the colon", "description": "" }, { "id": "MONDO:0010159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010159", "name": "CNS tumours with familial polyposis of the colon", "description": "" }, { "id": "MONDO:0010159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010159", "name": "MMRCS", "description": "" }, { "id": "MONDO:0010159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010159", "name": "brain tumor-polyposis syndrome", "description": "" }, { "id": "MONDO:0010159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010159", "name": "glioma-polyposis 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[] } ] }, { "title": "Mutational analysis of the hMLH1 gene using an automated two-dimensional DNA typing system.", "journal": "Human mutation", "date": "1997", "authors": "Sasaki S, Tokino T, Miyatsu T, Muto T, Nakamura Y", "reference": { "type": "PubMed", "id": "9067757", "url": "https://pubmed.ncbi.nlm.nih.gov/9067757" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P40692-1", "protein_name": "DNA mismatch repair protein Mlh1", "gene_name": "MLH1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P40692", "url": "https://www.uniprot.org/uniprotkb/P40692" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.9067757", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": 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human compound heterozygote for two MLH1 missense mutations.", "journal": "Nature genetics", "date": "1997", "authors": "Hackman P, Tannergard P, Osei-Mensa S, Chen J, Kane MF, Kolodner R, Lambert B, Hellgren D, Lindblom A", "reference": { "type": "PubMed", "id": "9326924", "url": "https://pubmed.ncbi.nlm.nih.gov/9326924" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P40692-1", "protein_name": "DNA mismatch repair protein Mlh1", "gene_name": "MLH1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P40692", "url": "https://www.uniprot.org/uniprotkb/P40692" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.9326924", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": 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Katarzyna, Kazimierczak Urszula, Tomela Katarzyna, Przyby\u0142a Anna, Koz\u0142owska Anna Karolina, Galus \u0141ukasz, Kwinta \u0141ukasz, Dondajewska Ewelina, G\u0105bka-Buszek Agnieszka, \u017bakowska Monika, Mackiewicz Andrzej", "reference": { "type": "PubMed", "id": "30377573", "url": "https://pubmed.ncbi.nlm.nih.gov/30377573" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P00352-1", "protein_name": "Aldehyde dehydrogenase 1A1", "gene_name": "ALDH1A1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P00352", "url": "https://www.uniprot.org/uniprotkb/P00352" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.30377573", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { 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