{ "uniprot_canonical_ac": "P07315-1", "uniprot_ac": "P07315", "uniprot_id": "CRGC_HUMAN", "mass": { "chemical_mass": 20879.0, "monoisotopic_mass": 20879.0 }, "refseq": { "ac": "NP_066269", "name": "gamma-crystallin C", "summary": "This gene encodes a member of the beta/gamma-crystallin family of proteins. Crystallins constitute the major proteins of vertebrate eye lens and maintain the transparency and refractive index of the lens. This gene and several family members are present in a gene cluster on chromosome 2. Mutations in this gene have been shown to cause multiple types of cataract, including Coppock-like cataract and zonular pulverulent cataract, among others. [provided by RefSeq, Jan 2015].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_066269" }, "gene_names": [ { "name": "CRYGC", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P07315", "id": "P07315" }, { "name": "CCL; CRYG3; CTRCT2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_066269", "id": "NP_066269" }, { "name": "CRYG3", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P07315", "id": "P07315" }, { "name": "CRYGC", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_066269", "id": "NP_066269" } ], "protein_names": [ { "name": "Gamma-crystallin C", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "P07315" }, { "name": "Gamma-C-crystallin", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P07315" }, { "name": "Gamma-crystallin 2-1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P07315" }, { "name": "Gamma-crystallin 3", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P07315" }, { "name": "gamma-crystallin 3; gamma-crystallin 2-1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_066269", "id": "NP_066269" }, { "name": "gamma-crystallin C", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_066269", "id": "NP_066269" } ], "function": [ { "annotation": "A novel CRYGC E128* mutation underlying an autosomal dominant nuclear cataract in a south Indian kindred.", "evidence": [ { "database": "RefSeq", "id": "NP_066269", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_066269" }, { "database": "PubMed", "id": "32811259", "url": "https://glygen.org/publication/PubMed/32811259" } ] }, { "annotation": "Cataract-causing mutations L45P and Y46D impair the thermal stability of gammaC-crystallin.", "evidence": [ { "database": "RefSeq", "id": "NP_066269", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_066269" }, { "database": "PubMed", "id": "33422942", "url": "https://glygen.org/publication/PubMed/33422942" } ] }, { "annotation": "Cataract-causing mutations L45P and Y46D promote gammaC-crystallin aggregation by disturbing hydrogen bonds network in the second Greek key motif.", "evidence": [ { "database": "RefSeq", "id": "NP_066269", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_066269" }, { "database": "PubMed", "id": "33278449", "url": "https://glygen.org/publication/PubMed/33278449" } ] }, { "annotation": "Crystallins are the dominant structural components of the vertebrate eye lens.", "evidence": [ { "database": "UniProtKB", "id": "P07315", "url": "https://www.uniprot.org/uniprot/P07315#function" } ] }, { "annotation": "The Y46D Mutation Destabilizes Dense Packing of the Second Greek Key Pair of Human gammaC-Crystallin Causing Congenital Nuclear Cataracts.", "evidence": [ { "database": "RefSeq", "id": "NP_066269", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_066269" }, { "database": "PubMed", "id": "37184593", "url": "https://glygen.org/publication/PubMed/37184593" } ] }, { "annotation": "This gene encodes a member of the beta/gamma-crystallin family of proteins. Crystallins constitute the major proteins of vertebrate eye lens and maintain the transparency and refractive index of the lens. This gene and several family members are present in a gene cluster on chromosome 2. Mutations in this gene have been shown to cause multiple types of cataract, including Coppock-like cataract and zonular pulverulent cataract, among others. [provided by RefSeq, Jan 2015].", "evidence": [ { "database": "RefSeq", "id": "NP_066269", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_066269" } ] } ], "disease": [ { "disease_id": "DOID:0110235", "recommended_name": { "id": "DOID:0110235", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110235", "name": "cataract 2 multiple types", "description": "A cataract that has_material_basis_in heterozygous mutation in the CRYGC gene on chromosome 2q33." }, "synonyms": [ { "id": "DOID:0110235", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110235", "name": "CTRCT2", "description": "" }, { "id": "DOID:0110235", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110235", "name": "cataract 2 multiple types with or without microcornea", "description": "" }, { "id": "MONDO:0100436", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100436", "name": "cataract 2, multiple types", "description": "Any cataract in which the cause of the disease is a mutation in the CRYGC gene." }, { "id": "MONDO:0100436", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100436", "name": "CTRCT2", "description": "" }, { "id": "MONDO:0100436", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100436", "name": "cataract 2 multiple types", "description": "" }, { "id": "MONDO:0100436", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100436", "name": "cataract 2 multiple types with or without microcornea", "description": "" }, { "id": "MONDO:0100436", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100436", "name": "cataract 2, multiple types, with or without microcornea", "description": "" }, { "id": "MONDO:0100436", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100436", "name": "cataract, Coppock-like", "description": "" }, { "id": "MIM:604307", "resource": "MIM", "url": "https://www.omim.org/entry/604307", "name": "Cataract 2, multiple types", "description": "Cataract 2, multiple types" } ], "evidence": [ { "id": "604307", "database": "MIM", "url": "https://www.omim.org/entry/604307" } ] } ], "snv": [], "mutagenesis": [], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "42.85", "present": "ABSENT", "evidence": [ { "database": "Bgee", "id": "ENSG00000163254", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000163254" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "56.97", "present": "ABSENT", "evidence": [ { "database": "Bgee", "id": "ENSG00000163254", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000163254" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "27.66", "present": "ABSENT", "evidence": [ { "database": "Bgee", "id": "ENSG00000163254", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000163254" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "49.96", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000163254", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000163254" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "17.43", "present": "ABSENT", "evidence": [ { "database": "Bgee", "id": "ENSG00000163254", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000163254" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "24.74", "present": "ABSENT", "evidence": [ { "database": "Bgee", "id": "ENSG00000163254", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000163254" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "47.76", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000163254", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000163254" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "32.46", "present": "ABSENT", "evidence": [ { "database": "Bgee", "id": "ENSG00000163254", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000163254" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "21.77", "present": "ABSENT", "evidence": [ { "database": "Bgee", "id": "ENSG00000163254", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000163254" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "47.6", "present": "ABSENT", "evidence": [ { "database": "Bgee", "id": "ENSG00000163254", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000163254" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "27.2", "present": "ABSENT", "evidence": [ { "database": "Bgee", "id": "ENSG00000163254", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000163254" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "17.81", "present": "ABSENT", "evidence": [ { "database": "Bgee", "id": "ENSG00000163254", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000163254" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "19.7", "present": "ABSENT", "evidence": [ { "database": "Bgee", "id": "ENSG00000163254", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000163254" } ] } ], "expression_disease": [ { "significant": "No", "trend": "down", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "P07315", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P07315" } ], "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, intestinal", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Head and neck cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11934", "evidence": [ { "database": "BioXpress", "id": "P07315", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P07315" } ], "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": "No", "trend": "up", "name": "Lung cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1324", "evidence": [ { "database": "BioXpress", "id": "P07315", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P07315" } ], "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "adenocarcinoma of lung, susceptibility to", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "Nonsmall cell lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "alveolar cell carcinoma", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung neoplasm", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ] } ] }, { "significant": "No", "trend": "up", "name": "Breast cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1612", "evidence": [ { "database": "BioXpress", "id": "P07315", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P07315" } ], "disease": [ { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "A thoracic cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] } ] }, { "significant": "No", "trend": "up", "name": "Kidney cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:263", "evidence": [ { "database": "BioXpress", "id": "P07315", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P07315" } ], "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": "Uterine cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:363", "evidence": [ { "database": "BioXpress", "id": "P07315", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P07315" } ], "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": "No", "trend": "up", "name": "Esophageal cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:5041", "evidence": [ { "database": "BioXpress", "id": "P07315", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P07315" } ], "disease": [ { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Aerodigestive tract cancer, susceptibility to", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Escc, susceptibility to", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, susceptibility to", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "gastric cardia adenocarcinoma, susceptibility to", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ] } ] }, { "significant": "No", "trend": "up", "name": "Colorectal cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:9256", "evidence": [ { "database": "BioXpress", "id": "P07315", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P07315" } ], "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "large intestine cancer", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ] } ] } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P07315", "url": "https://www.uniprot.org/uniprot/P07315" } ], "common_name": "Human" } ], "gene": [ { "name": "CRYGC", "url": "https://www.uniprot.org/uniprot/P07315", "locus": { "chromosome": "2", "start_pos": 208128137, "end_pos": 208129828, "strand": "+", "evidence": [ { "database": "Ensembl Gene", "id": "ENSG00000163254", "url": "https://www.ensembl.org/id/ENSG00000163254" } ] } } ], "crossref": [ { "id": "ENSG00000163254", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000163254", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "CHEMBL4296285", "url": "https://www.ebi.ac.uk/chembldb/target/inspect/CHEMBL4296285", "database": "ChEMBL", "categories": [ "Other" ] }, { "id": "CRYGC", "url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=CRYGC", "database": "GeneCards", "categories": [ "Gene Annotation", "Organism-specific" ] }, { "id": "1420", "url": "https://www.ncbi.nlm.nih.gov/gene/1420", "database": "GeneID", "categories": [ "Genome Annotation" ] }, { "id": "2410", "url": "https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=2410", "database": "HGNC", "categories": [ "Organism-specific" ] }, { "id": "P07315", "url": "https://www.ebi.ac.uk/intact/interactors/id:P07315*", "database": "IntAct", "categories": [ "Other" ] }, { "id": "IPR001064", "url": "https://www.ebi.ac.uk/interpro/entry/IPR001064", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR011024", "url": "https://www.ebi.ac.uk/interpro/entry/IPR011024", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "hsa:1420", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:1420", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "123680", "url": "http://www.omim.org/entry/123680", "database": "MIM", "categories": [ "Other" ] }, { "id": "604307", "url": "http://www.omim.org/entry/604307", "database": "MIM", "categories": [ "Other" ] }, { "id": "NX_P07315", "url": "https://www.nextprot.org/entry/NX_P07315", "database": "neXtProt", "categories": [ "Protein", "Organism-specific" ] }, { "id": "P07315", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P07315", "database": "O-GlcNAc Database", "categories": [ "Glycoproteomics" ] }, { "id": "CYECTTD", "url": "https://omabrowser.org/oma/group/CYECTTD/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "3998747at2759", "url": "http://www.orthodb.org/?query=3998747at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR11818", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11818", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR11818:SF32", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11818:SF32", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "2NBR", "url": "https://www.rcsb.org/structure/2NBR", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "PF00030", "url": "http://pfam.xfam.org/family/PF00030", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "P07315", "url": "https://pharos.nih.gov/targets/P07315", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR_P07315", "url": "http://purl.obolibrary.org/obo/PR_P07315", "database": "PRO", "categories": [ "Protein" ] }, { "id": "NP_066269", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_066269", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "P07315", "url": "https://www.uniprot.org/uniprot/P07315", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P07315-1", "url": "https://www.uniprot.org/uniprot/P07315-1", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MGKITFYEDRAFQGRSYETTTDCPNLQPYFSRCNSIRVESGCWMLYERPNYQGQQYLLRRGEYPDYQQWMGLSDSIRSCCLIPQTVSHRLRLYEREDHKGLMMELSEDCPSIQDRFHLSEIRSLHVLEGCWVLYELPNYRGRQYLLRPQEYRRCQDWGAMDAKAGSLRRVVDLY", "length": 174, "header": "sp|P07315-1|CRGC_HUMAN Isoform 1 of Gamma-crystallin C OS=Homo sapiens OX=9606 GN=CRYGC PE=1 SV=2 CANONICAL=P07315-1" }, "isoforms": [ { "isoform_ac": "P07315-1", "url": "", "sequence": { "sequence": "MGKITFYEDRAFQGRSYETTTDCPNLQPYFSRCNSIRVESGCWMLYERPNYQGQQYLLRRGEYPDYQQWMGLSDSIRSCCLIPQTVSHRLRLYEREDHKGLMMELSEDCPSIQDRFHLSEIRSLHVLEGCWVLYELPNYRGRQYLLRPQEYRRCQDWGAMDAKAGSLRRVVDLY", "length": 174, "header": "sp|P07315-1|CRGC_HUMAN Isoform 1 of Gamma-crystallin C OS=Homo sapiens OX=9606 GN=CRYGC PE=1 SV=2 CANONICAL=P07315-1" }, "locus": { "chromosome": "2", "start_pos": 208129792, "end_pos": 208128206, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000282141.4", "url": "https://www.ensembl.org/id/ENST00000282141.4" }, { "database": "Ensembl Peptide", "id": "ENSP00000282141.3", "url": "https://www.ensembl.org/id/ENSP00000282141.3" } ] } } ], "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "", "relation": "attached", "comment": "O-GlcNAcylation", "evidence": [ { "id": "P07315", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P07315" }, { "id": "30379171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30379171" } ] } ], "phosphorylation": [ { "start_pos": 63, "end_pos": 63, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Tyr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P07315", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P07315" }, { "database": "PubMed", "id": "12060738", "url": "https://glygen.org/publication/PubMed/12060738" }, { "database": "phospho.ELM", "id": "P07315", "url": "http://phospho.elm.eu.org/byAccession/P07315.html" } ], "site_lbl": "Tyr63" }, { "start_pos": 66, "end_pos": 66, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Tyr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P07315", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P07315" }, { "database": "PubMed", "id": "12060738", "url": "https://glygen.org/publication/PubMed/12060738" }, { "database": "phospho.ELM", "id": "P07315", "url": "http://phospho.elm.eu.org/byAccession/P07315.html" } ], "site_lbl": "Tyr66" } ], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_reported_with_glycan" ], "publication": [ { "title": "The gamma-crystallins and human cataracts: a puzzle made clearer.", "journal": "American journal of human genetics", "date": "1999", "authors": "Heon E, Priston M, Schorderet DF, Billingsley GD, Girard PO, Lubsen N, Munier FL", "evidence": [ { "database": "UniProtKB", "id": "P07315", "url": "https://www.uniprot.org/uniprot/P07315" } ], "reference": [ { "type": "PubMed", "id": "10521291", "url": "https://glygen.org/publication/PubMed/10521291" } ] }, { "title": "A 5-base insertion in the gammaC-crystallin gene is associated with autosomal dominant variable zonular pulverulent cataract.", "journal": "Hum. Genet.", "date": "2000", "authors": "Ren Z, Li A, Shastry B S, Padma T, Ayyagari R, Scott M H, Parks M M, Kaiser-Kupfer M I, Hejtmancik J F", "evidence": [ { "database": "UniProtKB", "id": "P07315", "url": "https://www.uniprot.org/uniprot/P07315" } ], "reference": [ { "type": "PubMed", "id": "10914683", "url": "https://glygen.org/publication/PubMed/10914683" } ] }, { "title": "Novel mutations in the gamma-crystallin genes cause autosomal dominant congenital cataracts.", "journal": "Journal of medical genetics", "date": "2002", "authors": "Santhiya ST, Shyam Manohar M, Rawlley D, Vijayalakshmi P, Namperumalsamy P, Gopinath PM, Loster J, Graw J", "evidence": [ { "database": "UniProtKB", "id": "P07315", "url": "https://www.uniprot.org/uniprot/P07315" } ], "reference": [ { "type": "PubMed", "id": "12011157", "url": "https://glygen.org/publication/PubMed/12011157" } ] }, { "title": "Shotgun identification of protein modifications from protein complexes and lens tissue.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2002", "authors": "MacCoss MJ, McDonald WH, Saraf A, Sadygov R, Clark JM, Tasto JJ, Gould KL, Wolters D, Washburn M, Weiss A, Clark JI, Yates JR 3rd", "evidence": [ { "database": "iPTMnet", "id": "P07315", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P07315" } ], "reference": [ { "type": "PubMed", "id": "12060738", "url": "https://glygen.org/publication/PubMed/12060738" } ] }, { "title": "Homology models of human gamma-crystallins: structural study of the extensive charge network in gamma-crystallins.", "journal": "Biochem. Biophys. Res. Commun.", "date": "2003", "authors": "Salim A, Zaidi ZH", "evidence": [ { "database": "UniProtKB", "id": "P07315", "url": "https://www.uniprot.org/uniprot/P07315" } ], "reference": [ { "type": "PubMed", "id": "12507494", "url": "https://glygen.org/publication/PubMed/12507494" } ] }, { "title": "Alteration of protein-protein interactions of congenital cataract crystallin mutants.", "journal": "Investigative ophthalmology & visual science", "date": "2003", "authors": "Fu L, Liang JJ", "evidence": [ { "database": "UniProtKB", "id": "P07315", "url": "https://www.uniprot.org/uniprot/P07315" } ], "reference": [ { "type": "PubMed", "id": "12601044", "url": "https://glygen.org/publication/PubMed/12601044" } ] }, { "title": "Methylation and carbamylation of human gamma-crystallins.", "journal": "Protein science : a publication of the Protein Society", "date": "2003", "authors": "Lapko VN, Smith DL, Smith JB", "evidence": [ { "database": "UniProtKB", "id": "P07315", "url": "https://www.uniprot.org/uniprot/P07315" } ], "reference": [ { "type": "PubMed", "id": "12876325", "url": "https://glygen.org/publication/PubMed/12876325" } ] }, { "title": "Crystallin gene mutations in Indian families with inherited pediatric cataract.", "journal": "Molecular vision", "date": "2008", "authors": "Devi RR, Yao W, Vijayalakshmi P, Sergeev YV, Sundaresan P, Hejtmancik JF", "evidence": [ { "database": "UniProtKB", "id": "P07315", "url": "https://www.uniprot.org/uniprot/P07315" } ], "reference": [ { "type": "PubMed", "id": "18587492", "url": "https://glygen.org/publication/PubMed/18587492" } ] }, { "title": "Mutation screening and genotype phenotype correlation of alpha-crystallin, gamma-crystallin and GJA8 gene in congenital cataract.", "journal": "Mol. Vis.", "date": "2011", "authors": "Kumar Manoj, Agarwal Tushar, Khokhar Sudarshan, Kumar Manoj, Kaur Punit, Roy Tara Sankar, Dada Rima", "evidence": [ { "database": "UniProtKB", "id": "P07315", "url": "https://www.uniprot.org/uniprot/P07315" } ], "reference": [ { "type": "PubMed", "id": "21423869", "url": "https://glygen.org/publication/PubMed/21423869" } ] }, { "title": "A novel mutation impairing the tertiary structure and stability of gammaC-crystallin (CRYGC) leads to cataract formation in humans and zebrafish lens.", "journal": "Human mutation", "date": "2012", "authors": "Li XQ, Cai HC, Zhou SY, Yang JH, Xi YB, Gao XB, Zhao WJ, Li P, Zhao GY, Tong Y, Bao FC, Ma Y, Wang S, Yan YB, Lu CL, Ma X", "evidence": [ { "database": "UniProtKB", "id": "P07315", "url": "https://www.uniprot.org/uniprot/P07315" } ], "reference": [ { "type": "PubMed", "id": "22052681", "url": "https://glygen.org/publication/PubMed/22052681" } ] }, { "title": "A nonsense mutation of CRYGC associated with autosomal dominant congenital nuclear cataracts and microcornea in a Chinese pedigree.", "journal": "Mol. Vis.", "date": "2012", "authors": "Guo Yuanyuan, Su Dongmei, Li Qian, Yang Zhenfei, Ma Zicheng, Ma Xu, Zhu Siquan", "evidence": [ { "database": "UniProtKB", "id": "P07315", "url": "https://www.uniprot.org/uniprot/P07315" } ], "reference": [ { "type": "PubMed", "id": "22876111", "url": "https://glygen.org/publication/PubMed/22876111" } ] }, { "title": "Nucleotide sequence of the rat gamma-crystallin gene region and comparison with an orthologous human region.", "journal": "Gene", "date": "1989", "authors": "den Dunnen JT, van Neck JW, Cremers FP, Lubsen NH, Schoenmakers JG", "evidence": [ { "database": "UniProtKB", "id": "P07315", "url": "https://www.uniprot.org/uniprot/P07315" } ], "reference": [ { "type": "PubMed", "id": "2777080", "url": "https://glygen.org/publication/PubMed/2777080" } ] }, { "title": "Mutations in crystallin genes result in congenital cataract associated with other ocular abnormalities.", "journal": "Molecular vision", "date": "2017", "authors": "Sun Z, Zhou Q, Li H, Yang L, Wu S, Sui R", "evidence": [ { "database": "UniProtKB", "id": "P07315", "url": "https://www.uniprot.org/uniprot/P07315" } ], "reference": [ { "type": "PubMed", "id": "29386872", "url": "https://glygen.org/publication/PubMed/29386872" } ] }, { "title": "Clinical and genetic characteristics of Chinese patients with familial or sporadic pediatric cataract.", "journal": "Orphanet journal of rare diseases", "date": "2018", "authors": "Li J, Leng Y, Han S, Yan L, Lu C, Luo Y, Zhang X, Cao L", "evidence": [ { "database": "UniProtKB", "id": "P07315", "url": "https://www.uniprot.org/uniprot/P07315" } ], "reference": [ { "type": "PubMed", "id": "29914532", "url": "https://glygen.org/publication/PubMed/29914532" } ] }, { "title": "A triarylphosphine-trimethylpiperidine reagent for the one-step derivatization and enrichment of protein post-translational modifications and identification by mass spectrometry.", "journal": "Chemical communications (Cambridge, England)", "date": "2018", "authors": "Huo B, Zhang W, Zhao X, Dong H, Yu Y, Wang J, Qian X, Qin W", "evidence": [ { "database": "O-GlcNAc Database", "id": "P07315", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P07315" } ], "reference": [ { "type": "PubMed", "id": "30379171", "url": "https://glygen.org/publication/PubMed/30379171" } ] }, { "title": "A novel CRYGC E128* mutation underlying an autosomal dominant nuclear cataract in a south Indian kindred.", "journal": "Ophthalmic genetics", "date": "2020", "authors": "Kandaswamy DK, Vasantha K, Graw J, Santhiya ST", "evidence": [ { "database": "RefSeq", "id": "NP_066269", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_066269" } ], "reference": [ { "type": "PubMed", "id": "32811259", "url": "https://glygen.org/publication/PubMed/32811259" } ] }, { "title": "The genetic landscape of crystallins in congenital cataract.", "journal": "Orphanet journal of rare diseases", "date": "2020", "authors": "Berry V, Ionides A, Pontikos N, Georgiou M, Yu J, Ocaka LA, Moore AT, Quinlan RA, Michaelides M", "evidence": [ { "database": "UniProtKB", "id": "P07315", "url": "https://www.uniprot.org/uniprot/P07315" } ], "reference": [ { "type": "PubMed", "id": "33243271", "url": "https://glygen.org/publication/PubMed/33243271" } ] }, { "title": "Cataract-causing mutations L45P and Y46D promote gammaC-crystallin aggregation by disturbing hydrogen bonds network in the second Greek key motif.", "journal": "International journal of biological macromolecules", "date": "2021", "authors": "Fu C, Xu J, Jia Z, Yao K, Chen X", "evidence": [ { "database": "RefSeq", "id": "NP_066269", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_066269" } ], "reference": [ { "type": "PubMed", "id": "33278449", "url": "https://glygen.org/publication/PubMed/33278449" } ] }, { "title": "Cataract-causing mutations L45P and Y46D impair the thermal stability of gammaC-crystallin.", "journal": "Biochemical and biophysical research communications", "date": "2021", "authors": "Fu C, Xu J, Yang X, Chen X, Yao K", "evidence": [ { "database": "RefSeq", "id": "NP_066269", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_066269" } ], "reference": [ { "type": "PubMed", "id": "33422942", "url": "https://glygen.org/publication/PubMed/33422942" } ] }, { "title": "The Y46D Mutation Destabilizes Dense Packing of the Second Greek Key Pair of Human \u03b3C-Crystallin Causing Congenital Nuclear Cataracts.", "journal": "Biochemistry", "date": "2023-05-15", "authors": "Vendra Venkata Pulla Rao, Ostrowski Christian, Clark Rebecca, Dyba Marzena, Tarasov Sergey G, Hejtmancik J Fielding", "evidence": [ { "database": "RefSeq", "id": "NP_066269", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_066269" } ], "reference": [ { "type": "PubMed", "id": "37184593", "url": "https://glygen.org/publication/PubMed/37184593" } ] }, { "title": "Structural and evolutionary relationships among five members of the human gamma-crystallin gene family.", "journal": "Mol. Cell. Biol.", "date": "1985", "authors": "Meakin SO, Breitman ML, Tsui LC", "evidence": [ { "database": "UniProtKB", "id": "P07315", "url": "https://www.uniprot.org/uniprot/P07315" } ], "reference": [ { "type": "PubMed", "id": "4033658", "url": "https://glygen.org/publication/PubMed/4033658" } ] }, { "title": "Two human gamma-crystallin genes are linked and riddled with Alu-repeats.", "journal": "Gene", "date": "1985", "authors": "den Dunnen J T, Moormann R J, Cremers F P, Schoenmakers J G", "evidence": [ { "database": "UniProtKB", "id": "P07315", "url": "https://www.uniprot.org/uniprot/P07315" } ], "reference": [ { "type": "PubMed", "id": "4065573", "url": "https://glygen.org/publication/PubMed/4065573" } ] }, { "title": "Sequence analysis of betaA3, betaB3, and betaA4 crystallins completes the identification of the major proteins in young human lens.", "journal": "J. Biol. Chem.", "date": "1997", "authors": "Lampi KJ, Ma Z, Shih M, Shearer TR, Smith JB, Smith DL, David LL", "evidence": [ { "database": "UniProtKB", "id": "P07315", "url": "https://www.uniprot.org/uniprot/P07315" } ], "reference": [ { "type": "PubMed", "id": "8999933", "url": "https://glygen.org/publication/PubMed/8999933" } ] } ], "pathway": [ { "id": "hsa:1420", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:1420", "resource": "KEGG Pathway" } ], "orthologs": [ { "uniprot_canonical_ac": "P02529-1", "protein_name": "Gamma-crystallin C", "gene_name": "Crygc", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "MGKITFYEDRGFQGRCYECSSDCPNLQTYFSRCNSIRVDSGCWMLYERPNYQGHQYFLRRGDYPDYQQWMGFSDSIRSCRLIPHTGSHRMRLYEKEDHKGVMMELSEDCSCIQDRFHLSEVRSLHVLEGCWVLYEMPNYRGRQYLLRPQEYRRYHDWGAVDAKAGSLRRVVDLY", "length": 174 }, "evidence": [ { "id": "45917619", "url": "http://www.informatics.jax.org/homology/45917619", "database": "MGI" } ], "common_name": "Rat" }, { "uniprot_canonical_ac": "Q61597-1", "protein_name": "Gamma-crystallin C", "gene_name": "Crygc", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MGKITFFEDRSFQGRCYECSSDCPNLQTYFSRCNSVRVDSGCWMLYERPNYQGHQYFLRRGEYPDYQQWMGFSDSIRSCRLIPHAGSHRMRLYEKEDHKGVMMELSEDCSCIQDRFHLSEVRSLQVLEGCWVLYEMPNYRGRQYLLRPQEYRRFQDWGSVDAKAGSLRRVVDLY", "length": 174 }, "evidence": [ { "id": "45917619", "url": "http://www.informatics.jax.org/homology/45917619", "database": "MGI" } ], "common_name": "Mouse" } ], "go_annotation": { "categories": [ { "name": "Cellular Component", "total": 2, "go_terms": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "P07315", "url": "https://www.uniprot.org/uniprot/P07315" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "P07315", "url": "https://www.uniprot.org/uniprot/P07315" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 2, "go_terms": [ { "name": "visual perception", "id": "GO:0007601", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007601", "evidence": [ { "database": "UniProtKB", "id": "P07315", "url": "https://www.uniprot.org/uniprot/P07315" } ], "pmid": "" }, { "name": "lens development in camera-type eye", "id": "GO:0002088", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002088", "evidence": [ { "database": "UniProtKB", "id": "P07315", "url": "https://www.uniprot.org/uniprot/P07315" } ], "pmid": "" } ] }, { "name": "Molecular Function", "total": 1, "go_terms": [ { "name": "structural constituent of eye lens", "id": "GO:0005212", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005212", "evidence": [ { "database": "UniProtKB", "id": "P07315", "url": "https://www.uniprot.org/uniprot/P07315" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [], "ptm_annotation": [], "interactions": [], "reactions": [], "reaction_participants": [], "reaction_enzymes": [], "biomarkers": [], "synthesized_glycans": [], "cluster_types": [ { "name": "homologset.mgi", "label": "MGI Homologs" } ], "sequence_features": { "n_linked_sites": [], "o_linked_sites": [], "snv_sites": [], "glycation_sites": [], "phosphorylation_sites": [ 63, 66 ], "sequon_annotation_sites": [] }, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "o_linked_glycan_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "o_linked_glycan_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 2 }, { "field": "total_sites", "count": 2 } ], "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": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "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": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 23 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }