{ "uniprot_canonical_ac": "Q9JIL9-1", "uniprot_ac": "Q9JIL9", "uniprot_id": "NBN_RAT", "mass": { "chemical_mass": 83150.0, "monoisotopic_mass": 83150.0 }, "refseq": { "ac": "NP_620228", "name": "nibrin", "summary": "", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_620228" }, "gene_names": [ { "name": "Nbn", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/Q9JIL9", "id": "Q9JIL9" }, { "name": "Nbn", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_620228", "id": "NP_620228" }, { "name": "Nbs1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_620228", "id": "NP_620228" }, { "name": "Nbs1", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/Q9JIL9", "id": "Q9JIL9" } ], "protein_names": [ { "name": "Nibrin", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "Q9JIL9" }, { "name": "Nijmegen breakage syndrome protein 1 homolog", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q9JIL9" }, { "name": "nibrin", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_620228", "id": "NP_620228" }, { "name": "nijmegen breakage syndrome protein 1 homolog", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_620228", "id": "NP_620228" } ], "function": [ { "annotation": "Component of the MRE11-RAD50-NBN (MRN complex) which plays a critical role in the cellular response to DNA damage and the maintenance of chromosome integrity. The complex is involved in double-strand break (DSB) repair, DNA recombination, maintenance of telomere integrity, cell cycle checkpoint control and meiosis.", "evidence": [ { "database": "UniProtKB", "id": "G3V766", "url": "https://www.uniprot.org/uniprot/G3V766#function" }, { "database": "UniProtKB", "id": "PIRNR011869", "url": "https://www.uniprot.org/uniprot/PIRNR011869#function" }, { "database": "UniProtKB", "id": "A0A8I6AGS6", "url": "https://www.uniprot.org/uniprot/A0A8I6AGS6#function" }, { "database": "UniProtKB", "id": "Q9JIL9", "url": "https://www.uniprot.org/uniprot/Q9JIL9#function" }, { "database": "UniProtKB", "id": "O60934", "url": "https://www.uniprot.org/uniprot/O60934#function" } ] } ], "disease": [ { "disease_id": "DOID:0014667", "recommended_name": { "id": "DOID:0014667", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0014667", "name": "disease of metabolism", "description": "A disease that involving errors in metabolic processes of building or degradation of molecules." }, "synonyms": [ { "id": "DOID:0014667", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0014667", "name": "metabolic disease", "description": "" } ], "evidence": [ { "id": "0014667", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0014667" } ] }, { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, on chromosome 7", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "predisposing for prostate cancer", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate carcinoma", "description": "Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma." }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate carcinoma", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, somatic", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, hereditary", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer aggressiveness", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "Prca1", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer susceptibility, X-linked", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" } ], "evidence": [ { "id": "10283", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ] }, { "disease_id": "DOID:10652", "recommended_name": { "id": "DOID:10652", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10652", "name": "Alzheimer's disease", "description": "A tauopathy that is characterized by memory lapses, confusion, emotional instability and progressive loss of mental ability and results in progressive memory loss, impaired thinking, disorientation, and changes in personality and mood starting and leads in advanced cases to a profound decline in cognitive and physical functioning and is marked histologically by the degeneration of brain neurons especially in the cerebral cortex and by the presence of neurofibrillary tangles and plaques containing beta-amyloid." }, "synonyms": [ { "id": "DOID:10652", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10652", "name": "Alzheimer disease", "description": "" }, { "id": "DOID:10652", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10652", "name": "Alzheimers dementia", "description": "" } ], "evidence": [ { "id": "10652", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:10652" } ] }, { "disease_id": "DOID:12449", "recommended_name": { "id": "DOID:12449", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12449", "name": "aplastic anemia", "description": "An anemia that is characterized by a deficiency of red blood cells, white blood cells and platelets produced by bone marrow." }, "synonyms": [ { "id": "MONDO:0012197", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012197", "name": "idiopathic aplastic anemia", "description": "Aplastic anemia without a known cause." }, { "id": "MONDO:0012197", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012197", "name": "idiopathic aplastic aplasia", "description": "" }, { "id": "MONDO:0012197", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012197", "name": "idiopathic bone marrow failure", "description": "" }, { "id": "MONDO:0012197", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012197", "name": "anaemia aplastic", "description": "" }, { "id": "MONDO:0012197", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012197", "name": "anemia aplastic", "description": "" }, { "id": "MONDO:0012197", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012197", "name": "aplastic Anemia, susceptibility to", "description": "" }, { "id": "MONDO:0012197", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012197", "name": "aplastic anaemia", "description": "" }, { "id": "MONDO:0012197", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012197", "name": "aplastic anaemia idiopathic", "description": "" }, { "id": "MONDO:0012197", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012197", "name": "aplastic anemia", "description": "" }, { "id": "MONDO:0012197", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012197", "name": "aplastic anemia idiopathic", "description": "" }, { "id": "MONDO:0012197", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012197", "name": "secondary aplastic anaemia", "description": "" }, { "id": "MONDO:0012197", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012197", "name": "secondary aplastic anemia", "description": "" }, { "id": "MIM:609135", "resource": "MIM", "url": "https://www.omim.org/entry/609135", "name": "Aplastic anemia", "description": "Aplastic anemia" } ], "evidence": [ { "id": "12449", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:12449" } ] }, { "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" } ], "evidence": [ { "id": "1612", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ] }, { "disease_id": "DOID:1993", "recommended_name": { "id": "DOID:1993", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1993", "name": "rectum cancer", "description": "A colorectal cancer that is located_in the rectum." }, "synonyms": [ { "id": "DOID:1993", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1993", "name": "carcinoma of rectum", "description": "" }, { "id": "DOID:1993", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1993", "name": "carcinoma of the rectum", "description": "" }, { "id": "DOID:1993", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1993", "name": "malignant Rectal tumor", "description": "" }, { "id": "DOID:1993", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1993", "name": "malignant neoplasm of rectum", "description": "" }, { "id": "DOID:1993", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1993", "name": "malignant rectum tumor", "description": "" }, { "id": "DOID:1993", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1993", "name": "malignant tumor of rectum", "description": "" }, { "id": "DOID:1993", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1993", "name": "rectal cancer", "description": "" } ], "evidence": [ { "id": "1993", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:1993" } ] }, { "disease_id": "DOID:2394", "recommended_name": { "id": "DOID:2394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2394", "name": "ovarian cancer", "description": "A female reproductive organ cancer that is located_in the ovary." }, "synonyms": [ { "id": "DOID:2394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2394", "name": "malignant Ovarian tumor", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2394", "name": "malignant tumour of ovary", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2394", "name": "ovarian neoplasm", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2394", "name": "ovary neoplasm", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2394", "name": "primary ovarian cancer", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2394", "name": "tumor of the Ovary", "description": "" }, { "id": "MONDO:0011931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011931", "name": "ovarian cancer, susceptibility to, 1", "description": "" }, { "id": "MONDO:0011931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011931", "name": "OVCAS1", "description": "" }, { "id": "MONDO:0011931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011931", "name": "ovarian cancer, susceptibility to", "description": "" }, { "id": "MONDO:0011931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011931", "name": "ovarian cancer, susceptibility to, 1", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian cancer", "description": "A primary or metastatic malignant neoplasm involving the ovary. Most primary malignant ovarian neoplasms are either carcinomas (serous, mucinous, or endometrioid adenocarcinomas) or malignant germ cell tumors. Metastatic malignant neoplasms to the ovary include carcinomas, lymphomas, and melanomas." }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian neoplasm", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovary neoplasm", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "tumor of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "tumour of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "cancer of ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "cancer of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant neoplasm of ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant neoplasm of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant ovarian neoplasm", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant ovarian tumor", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant ovarian tumour", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant ovary neoplasm", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant tumor of ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant tumor of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant tumour of ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant tumour of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian cancer", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian cancer, somatic", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian malignant tumor", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian malignant tumour", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovary cancer", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian cancer, epithelial", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "primary ovarian cancer", "description": "" }, { "id": "MIM:167000", "resource": "MIM", "url": "https://www.omim.org/entry/167000", "name": "Ovarian cancer", "description": "Ovarian cancer" } ], "evidence": [ { "id": "2394", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:2394" } ] }, { "disease_id": "DOID:5603", "recommended_name": { "id": "DOID:5603", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5603", "name": "T-cell acute lymphoblastic leukemia", "description": "An acute lymphoblastic leukemia that is characterized by too many T-cell lymphoblasts found in the bone marrow and blood." }, "synonyms": [ { "id": "DOID:5603", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5603", "name": "T-cell leukemia", "description": "" }, { "id": "DOID:5603", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5603", "name": "acute T cell leukemia", "description": "" }, { "id": "DOID:5603", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5603", "name": "precursor T-lymphoblastic lymphoma/leukemia", "description": "" }, { "id": "DOID:5603", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5603", "name": "Precursor T Lymphoblastic Leukemia", "description": "" }, { "id": "DOID:5603", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5603", "name": "T Acute Lymphoblastic Leukemia", "description": "" }, { "id": "DOID:5603", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5603", "name": "T-cell acute lymphocytic leukaemia", "description": "" }, { "id": "DOID:5603", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5603", "name": "T-cell lymphoblastic leukemia/lymphoma", "description": "" } ], "evidence": [ { "id": "5603", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:5603" } ] }, { "disease_id": "DOID:7400", "recommended_name": { "id": "DOID:7400", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:7400", "name": "Nijmegen breakage syndrome", "description": "A syndrome characterized by chromosomal instability, microcephaly, growth retardation, immunodeficiency, cellular hypersensitivity to X-rays, and predisposition to cancer that has_material_basis_in homozygous or compound heterozygous mutation in NBN on chromosome 8q21.3." }, "synonyms": [ { "id": "DOID:7400", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:7400", "name": "microcephaly-immunodeficiency-lymphoreticuloma syndrome", "description": "" }, { "id": "DOID:7400", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:7400", "name": "Berlin breakage syndrome", "description": "" }, { "id": "DOID:7400", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:7400", "name": "immunodeficiency-microcephaly-chromosomal instability syndrome", "description": "" }, { "id": "DOID:7400", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:7400", "name": "NBS", "description": "" }, { "id": "DOID:7400", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:7400", "name": "Seemanova syndrome II", "description": "" }, { "id": "DOID:7400", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:7400", "name": "Seemanova syndrome type 2", "description": "" }, { "id": "DOID:7400", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:7400", "name": "ataxia-telangiectasia variant", "description": "" }, { "id": "DOID:7400", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:7400", "name": "Microcephaly, normal intelligence and immunodeficiency", "description": "" }, { "id": "MONDO:0009623", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009623", "name": "Nijmegen breakage syndrome", "description": "Nijmegen breakage syndrome is a rare genetic disease presenting at birth with microcephaly, dysmorphic facial features, becoming more noticeable with age, growth delay, and later-onset complications such as malignancies and infections." }, { "id": "MONDO:0009623", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009623", "name": "AT V1", "description": "" }, { "id": "MONDO:0009623", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009623", "name": "Berlin breakage syndrome", "description": "" }, { "id": "MONDO:0009623", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009623", "name": "NBs", "description": "" }, { "id": "MONDO:0009623", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009623", "name": "Nijmegen breakage syndrome", "description": "" }, { "id": "MONDO:0009623", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009623", "name": "Seemanova syndrome", "description": "" }, { "id": "MONDO:0009623", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009623", "name": "Seemanova syndrome type 2", "description": "" }, { "id": "MONDO:0009623", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009623", "name": "ataxia-telangiectasia, variant 1", "description": "" }, { "id": "MONDO:0009623", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009623", "name": "immunodeficiency-microcephaly-chromosomal instability syndrome", "description": "" }, { "id": "MONDO:0009623", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009623", "name": "microcephaly, normal intelligence and immunodeficiency", "description": "" }, { "id": "MONDO:0009623", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009623", "name": "microcephaly-immunodeficiency-lymphoreticuloma syndrome", "description": "" }, { "id": "MONDO:0009623", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009623", "name": "Nonsyndromal microcephaly autosomal recessive with normal intelligence", "description": "" }, { "id": "MONDO:0009623", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009623", "name": "Nonsyndromal microcephaly, autosomal recessive, with normal intelligence", "description": "" }, { "id": "MONDO:0009623", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009623", "name": "Seemanova syndrome 2", "description": "" }, { "id": "MONDO:0009623", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009623", "name": "ataxia-telangiectasia variant V1", "description": "" }, { "id": "MONDO:0009623", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009623", "name": "ataxia-telangiectasia variant V2", "description": "" }, { "id": "MONDO:0009623", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009623", "name": "immunodeficiency, microcephaly, and chromosomal instability", "description": "" }, { "id": "MONDO:0009623", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009623", "name": "microcephaly immunodeficiency lymphoreticuloma", "description": "" }, { "id": "MONDO:0009623", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009623", "name": "microcephaly with normal intelligence immunodeficiency and lymphoreticular malignancies", "description": "" }, { "id": "MONDO:0009623", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009623", "name": "microcephaly with normal intelligence, immunodeficiency, and lymphoreticular malignancies", "description": "" }, { "id": "MIM:251260", "resource": "MIM", "url": "https://www.omim.org/entry/251260", "name": "Nijmegen breakage syndrome", "description": "Nijmegen breakage syndrome" } ], "evidence": [ { "id": "7400", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:7400" } ] }, { "disease_id": "DOID:9952", "recommended_name": { "id": "DOID:9952", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9952", "name": "acute lymphoblastic leukemia", "description": "A acute leukemia that is characterized by over production of lymphoblasts." }, "synonyms": [ { "id": "DOID:9952", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9952", "name": "ALL", "description": "" }, { "id": "DOID:9952", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9952", "name": "precursor lymphoblastic lymphoma/leukemia", "description": "" }, { "id": "DOID:9952", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9952", "name": "acute lymphoblastic leukaemia", "description": "" }, { "id": "DOID:9952", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9952", "name": "acute lymphocytic leukaemia", "description": "" }, { "id": "MONDO:0009539", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009539", "name": "lymphoblastic leukemia, acute, with lymphomatous features", "description": "" }, { "id": "MONDO:0009539", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009539", "name": "leukemia, acute lymphoblastic", "description": "" }, { "id": "MONDO:0009539", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009539", "name": "lymphoblastic leukemia, acute, with lymphomatous features", "description": "" }, { "id": "MONDO:0009539", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009539", "name": "lall", "description": "" }, { "id": "MONDO:0009539", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009539", "name": "lymphomatous All", "description": "" }, { "id": "MONDO:0013108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013108", "name": "leukemia, acute lymphocytic, susceptibility to, 1", "description": "" }, { "id": "MONDO:0013108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013108", "name": "T-cell acute lymphoblastic leukemia, somatic", "description": "" }, { "id": "MONDO:0013108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013108", "name": "leukemia, T-cell acute lymphoblastic, somatic", "description": "" }, { "id": "MONDO:0013108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013108", "name": "leukemia, T-cell acute lymphocytic, somatic", "description": "" }, { "id": "MONDO:0013108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013108", "name": "leukemia, acute lymphoblastic, somatic", "description": "" }, { "id": "MONDO:0013108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013108", "name": "leukemia, acute lymphocytic, Philadelphia chromosome positive, somatic", "description": "" }, { "id": "MONDO:0013108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013108", "name": "leukemia, acute lymphocytic, susceptibility to, 1", "description": "" }, { "id": "MONDO:0013108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013108", "name": "ALL", "description": "" }, { "id": "MONDO:0013108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013108", "name": "All1", "description": "" }, { "id": "MONDO:0013108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013108", "name": "leukemia, B-cell acute lymphoblastic, susceptibility to", "description": "" }, { "id": "MONDO:0013108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013108", "name": "leukemia, T-cell acute lymphoblastic, susceptibility to", "description": "" }, { "id": "MONDO:0013108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013108", "name": "leukemia, acute lymphoblastic", "description": "" }, { "id": "MONDO:0013108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013108", "name": "leukemia, acute lymphoblastic, B-Hyperdiploid, susceptibility to", "description": "" }, { "id": "MONDO:0013108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013108", "name": "leukemia, acute lymphoblastic, susceptibility to, 1", "description": "" }, { "id": "MIM:613065", "resource": "MIM", "url": "https://www.omim.org/entry/613065", "name": "Leukemia, acute lymphoblastic", "description": "Leukemia, acute lymphoblastic" } ], "evidence": [ { "id": "9952", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:9952" } ] } ], "snv": [], "mutagenesis": [], "expression_tissue": [], "expression_disease": [], "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "evidence": [ { "database": "UniProtKB", "id": "Q9JIL9", "url": "https://www.uniprot.org/uniprot/Q9JIL9" } ], "common_name": "Rat" } ], "gene": [ { "name": "Nbn", "url": "https://www.uniprot.org/uniprot/Q9JIL9", "locus": { "chromosome": "5", "start_pos": 29494150, "end_pos": 29459457, "strand": "-", "evidence": [ { "database": "Ensembl Gene", "id": "ENSRNOG00000008580", "url": "https://www.ensembl.org/id/ENSRNOG00000008580" } ] } } ], "crossref": [ { "id": "ENSRNOG00000008580", "url": "https://bgee.org/?page=gene&gene_id=ENSRNOG00000008580", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "cd17741", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd17741", "database": "CDD", "categories": [ "Protein Classification" ] }, { "id": "cd22667", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd22667", "database": "CDD", "categories": [ "Protein Classification" ] }, { "id": "85482", "url": "https://www.ncbi.nlm.nih.gov/gene/85482", "database": "GeneID", "categories": [ "Genome Annotation" ] }, { "id": "IPR000253", "url": "https://www.ebi.ac.uk/interpro/entry/IPR000253", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR008984", "url": "https://www.ebi.ac.uk/interpro/entry/IPR008984", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR013908", "url": "https://www.ebi.ac.uk/interpro/entry/IPR013908", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR016592", "url": "https://www.ebi.ac.uk/interpro/entry/IPR016592", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR032429", "url": "https://www.ebi.ac.uk/interpro/entry/IPR032429", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR036420", "url": "https://www.ebi.ac.uk/interpro/entry/IPR036420", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR040227", "url": "https://www.ebi.ac.uk/interpro/entry/IPR040227", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR043014", "url": "https://www.ebi.ac.uk/interpro/entry/IPR043014", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "rno:85482", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+rno:85482", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "KKNFKMF", "url": "https://omabrowser.org/oma/group/KKNFKMF/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "2787263at2759", "url": "http://www.orthodb.org/?query=2787263at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR12162", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR12162", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR12162:SF0", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR12162:SF0", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PF00498", "url": "http://pfam.xfam.org/family/PF00498", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF08599", "url": "http://pfam.xfam.org/family/PF08599", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF16508", "url": "http://pfam.xfam.org/family/PF16508", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PR_Q9JIL9", "url": "http://purl.obolibrary.org/obo/PR_Q9JIL9", "database": "PRO", "categories": [ "Protein" ] }, { "id": "R-RNO-2559586", "url": "https://www.reactome.org/PathwayBrowser/#R-RNO-2559586", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-RNO-5685938", "url": "https://www.reactome.org/PathwayBrowser/#R-RNO-5685938", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-RNO-5685939", "url": "https://www.reactome.org/PathwayBrowser/#R-RNO-5685939", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-RNO-5685942", "url": "https://www.reactome.org/PathwayBrowser/#R-RNO-5685942", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-RNO-5693537", "url": "https://www.reactome.org/PathwayBrowser/#R-RNO-5693537", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-RNO-5693548", "url": "https://www.reactome.org/PathwayBrowser/#R-RNO-5693548", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-RNO-5693565", "url": "https://www.reactome.org/PathwayBrowser/#R-RNO-5693565", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-RNO-5693568", "url": "https://www.reactome.org/PathwayBrowser/#R-RNO-5693568", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-RNO-5693571", "url": "https://www.reactome.org/PathwayBrowser/#R-RNO-5693571", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-RNO-5693579", "url": "https://www.reactome.org/PathwayBrowser/#R-RNO-5693579", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-RNO-5693607", "url": "https://www.reactome.org/PathwayBrowser/#R-RNO-5693607", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-RNO-5693616", "url": "https://www.reactome.org/PathwayBrowser/#R-RNO-5693616", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-RNO-6804756", "url": "https://www.reactome.org/PathwayBrowser/#R-RNO-6804756", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-RNO-69473", "url": "https://www.reactome.org/PathwayBrowser/#R-RNO-69473", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "NP_620228", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_620228", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "621420", "url": "http://rgd.mcw.edu/tools/genes/genes_view.cgi?id=621420", "database": "RGD", "categories": [ "Organism-specific" ] }, { "id": "A0A8I6AGS6", "url": "https://www.uniprot.org/uniprot/A0A8I6AGS6", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8I6AGS6-1", "url": "https://www.uniprot.org/uniprot/A0A8I6AGS6-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "G3V766", "url": "https://www.uniprot.org/uniprot/G3V766", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "G3V766-1", "url": "https://www.uniprot.org/uniprot/G3V766-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q9JIL9", "url": "https://www.uniprot.org/uniprot/Q9JIL9", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q9JIL9-1", "url": "https://www.uniprot.org/uniprot/Q9JIL9-1", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MWKLLPAASAAPGEPCRLLAGVEYIVGRKNCAILIENDQSISRNHAVLRVNFPVTSLSQTDEIPTLTIKDNSKYGTFINEEKMQNGLSSTLKTGDRVTFGVFESKFRVEYEPLVVCSSCLDVSGKTVLNQAILQLGGLTANSWTEECTHLAMSSVKVTIKTICALICGRPIVKPEYFSEFLKAVESKTQPPEIESFYPPIDEPAIGNKSVDLSGRRERKQIFKGKTFVFLNAKQHKKLGSAVVFGGGEARLMAEGGEEEQSFFSAPGTCVVDVGITNTQLIITDSQRKWIHLIMDILQRHGLRPIPEAEIGLAVIFMTTESYCNPQGQPCTEVKTTTPGPSLSQGLSANGKVIPSAPMNMTTYVADTESEPADTCMSLSERPEEVKIFGLDQNSRKLLQGTCNIKETSNQSSNSNNAASNTLVRGKAPNYQLSPMKCPAASKNKDWSSQQQLNSIKNYFQPCSRKRERDEENPEQSSCKSSRVELSCSLLEQTQPAGPSLWKSKDHESQSETLDRASNASSVGGIDIKPNGKSPDSKSFSTEDLRARKRKEVDLSTEEEVLEELLRSTKPELAVQVKVEKQEADVSIRKKPRMDAERNQHLNGGPVPESNSALQEDETGKKDELQIEAWSTKREVSNTDELQDSSEELPRKLLLTEFRSLVVHNNSSRNLCVLNGRGELKNFKKFKKATCPGAGKLPHIIGGSDLIGHHARKNTELEEWLKHEMEVQKQQAKEDSLADDLFRYNPNVKRR", "length": 750, "header": "sp|Q9JIL9-1|NBN_RAT Isoform 1 of Nibrin OS=Rattus norvegicus OX=10116 GN=Nbn PE=1 SV=2 CANONICAL=Q9JIL9-1" }, "isoforms": [ { "isoform_ac": "A0A8I6AGS6-1", "url": "", "sequence": { "sequence": "MDVCVCVCVCVCVCVYVCACTYVYVYLTFIYFCFPLGEPCRLLAGVEYIVGRKNCAILIENDQSISRNHAVLRVNFPVTSLSQTDEIPTLTIKDNSKYGTFINEEKMLNGLSSTLKTGDRVTFGVFESKFRVEYEPLVVCSSCLDVSGKTVLNQAILQLGGLTANSWTEECTHLAMSSVKVTIKTICALICGRPIVKPEYFSEFLKAVESKTQPPEIESFYPPIDEPAIGNKSVDLSGRRERKQIFKGKTFVFLNAKQHKKLGSAVVFGGGEARLMAEGGEEEQSFFSAPGTCVVDVGITNTQLIITDSQRKWIHLIMDILQRHGLRPIPEAEIGLAVIFMTTESYCNPQGQPCTEVKTTTPGPSLSQGLSANGKVIPSAPMNMTTYVADTESEPADTCMSLSERPEEVKIFGLDQNSRKLLQGTCNIKETSNQSSNSNNAASNTLVRGKAPNYQLSPMKCPAASKNKDWSSQQQLNSIKNYFQPCSRKRERDEENPEQSSCKSSRVELSCSLLEQTQPAGPSLWKSKDHESQSETLDRASNASSVGGIDIKPNGKSPDSKSFSTEDLRARKRKEVDLSTEEEVLEELLRSTKPELAVQVKVEKQEADVSIRKKPRMDAERNQHLNGGPVPESNSALQEDETGKKDELQIEAWSTKREVSNTDELPDSSEELPRKLLLTEFRSLVVHNNSSRNLCVLNGRGELKNFKKFKKATCPGAGKLPHIIGGSDLIGHHARKNTELEEWLKHEMEKRKTEAKENGRKRGAERDGRRACV", "length": 773, "header": "tr|A0A8I6AGS6-1|NBN_RAT Computationally mapped isoform of Nibrin OS=Rattus norvegicus OX=10116 GN=Nbn PE=1 SV=1 CANONICAL=Q9JIL9-1" }, "locus": { "chromosome": "5", "start_pos": 29491602, "end_pos": 29464003, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENSRNOT00000111074.1", "url": "https://www.ensembl.org/id/ENSRNOT00000111074.1" }, { "database": "Ensembl Peptide", "id": "ENSRNOP00000091774.1", "url": "https://www.ensembl.org/id/ENSRNOP00000091774.1" } ] } }, { "isoform_ac": "G3V766-1", "url": "", "sequence": { "sequence": "MRFRSVLLAFRRTPRRPKLTEHGSWVVGAEIGAHRNSGGEPCRLLAGVEYIVGRKNCAILIENDQSISRNHAVLRVNFPVTSLSQTDEIPTLTIKDNSKYGTFINEEKMLNGLSSTLKTGDRVTFGVFESKFRVEYEPLVVCSSCLDVSGKTVLNQAILQLGGLTANSWTEECTHLAMSSVKVTIKTICALICGRPIVKPEYFSEFLKAVESKTQPPEIESFYPPIDEPAIGNKSVDLSGRRERKQIFKGKTFVFLNAKQHKKLGSAVVFGGGEARLMAEGGEEEQSFFSAPGTCVVDVGITNTQLIITDSQRKWIHLIMDILQRHGLRPIPEAEIGLAVIFMTTESYCNPQGQPCTEVKTTTPGPSLSQGLSANGKVIPSAPMNMTTYVADTESEPADTCMSLSERPEEVKIFGLDQNSRKLLQGTCNIKETSNQSSNSNNAASNTLVRGKAPNYQLSPMKCPAASKNKDWSSQQQLNSIKNYFQPCSRKRERDEENPEQSSCKSSRVELSCSLLEQTQPAGPSLWKSKDHESQSETLDRASNASSVGGIDIKPNGKSPDSKSFSTEDLRARKRKEVDLSTEEEVLEELLRSTKPELAVQVKVEKQEADVSIRKKPRMDAERNQHLNGGPVPESNSALQEDETGKKDELQIEAWSTKREVSNTDELPDSSEELPRKLLLTEFRSLVVHNNSSRNLCVLNGRGELKNFKKFKKATCPGAGKLPHIIGGSDLIGHHARKNTELEEWLKHEMEVQKQQAKEDSLADDLFRYNPNVKRR", "length": 776, "header": "tr|G3V766-1|NBN_RAT Computationally mapped isoform of Nibrin OS=Rattus norvegicus OX=10116 GN=Nbn PE=1 SV=2 CANONICAL=Q9JIL9-1" }, "locus": { "chromosome": "5", "start_pos": 29493811, "end_pos": 29459811, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENSRNOT00000012377.5", "url": "https://www.ensembl.org/id/ENSRNOT00000012377.5" }, { "database": "Ensembl Peptide", "id": "ENSRNOP00000012377.3", "url": "https://www.ensembl.org/id/ENSRNOP00000012377.3" } ] } }, { "isoform_ac": "Q9JIL9-1", "url": "", "sequence": { "sequence": "MWKLLPAASAAPGEPCRLLAGVEYIVGRKNCAILIENDQSISRNHAVLRVNFPVTSLSQTDEIPTLTIKDNSKYGTFINEEKMQNGLSSTLKTGDRVTFGVFESKFRVEYEPLVVCSSCLDVSGKTVLNQAILQLGGLTANSWTEECTHLAMSSVKVTIKTICALICGRPIVKPEYFSEFLKAVESKTQPPEIESFYPPIDEPAIGNKSVDLSGRRERKQIFKGKTFVFLNAKQHKKLGSAVVFGGGEARLMAEGGEEEQSFFSAPGTCVVDVGITNTQLIITDSQRKWIHLIMDILQRHGLRPIPEAEIGLAVIFMTTESYCNPQGQPCTEVKTTTPGPSLSQGLSANGKVIPSAPMNMTTYVADTESEPADTCMSLSERPEEVKIFGLDQNSRKLLQGTCNIKETSNQSSNSNNAASNTLVRGKAPNYQLSPMKCPAASKNKDWSSQQQLNSIKNYFQPCSRKRERDEENPEQSSCKSSRVELSCSLLEQTQPAGPSLWKSKDHESQSETLDRASNASSVGGIDIKPNGKSPDSKSFSTEDLRARKRKEVDLSTEEEVLEELLRSTKPELAVQVKVEKQEADVSIRKKPRMDAERNQHLNGGPVPESNSALQEDETGKKDELQIEAWSTKREVSNTDELQDSSEELPRKLLLTEFRSLVVHNNSSRNLCVLNGRGELKNFKKFKKATCPGAGKLPHIIGGSDLIGHHARKNTELEEWLKHEMEVQKQQAKEDSLADDLFRYNPNVKRR", "length": 750, "header": "sp|Q9JIL9-1|NBN_RAT Isoform 1 of Nibrin OS=Rattus norvegicus OX=10116 GN=Nbn PE=1 SV=2 CANONICAL=Q9JIL9-1" }, "locus": {} } ], "glycosylation": [], "phosphorylation": [ { "start_pos": 337, "end_pos": 337, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "Phosphothreonine", "evidence": [ { "database": "UniProtKB", "id": "Q9JIL9", "url": "https://www.uniprot.org/uniprot/Q9JIL9" } ], "site_lbl": "Thr337" }, { "start_pos": 343, "end_pos": 343, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine; by ATM", "evidence": [ { "database": "UniProtKB", "id": "Q9JIL9", "url": "https://www.uniprot.org/uniprot/Q9JIL9" } ], "site_lbl": "Ser343" }, { "start_pos": 347, "end_pos": 347, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q9JIL9", "url": "https://www.uniprot.org/uniprot/Q9JIL9" } ], "site_lbl": "Ser347" }, { "start_pos": 433, "end_pos": 433, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q9JIL9", "url": "https://www.uniprot.org/uniprot/Q9JIL9" }, { "database": "PubMed", "id": "22673903", "url": "https://glygen.org/publication/PubMed/22673903" }, { "database": "iPTMnet", "id": "Q9JIL9", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9JIL9" } ], "site_lbl": "Ser433" }, { "start_pos": 508, "end_pos": 508, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q9JIL9", "url": "https://www.uniprot.org/uniprot/Q9JIL9" } ], "site_lbl": "Ser508" }, { "start_pos": 517, "end_pos": 517, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q9JIL9", "url": "https://www.uniprot.org/uniprot/Q9JIL9" } ], "site_lbl": "Ser517" } ], "glycation": [], "keywords": [], "publication": [ { "title": "The MRE11-NBS1-RAD50 pathway is perturbed in SV40 large T antigen-immortalized AT-1, AT-2 and HL-1 cardiomyocytes.", "journal": "Nucleic Acids Res.", "date": "2000", "authors": "Claycomb W.C., Egeland D.B., Lanson N.A. Jr., Royals B.A.", "evidence": [ { "database": "UniProtKB", "id": "Q9JIL9", "url": "https://www.uniprot.org/uniprot/Q9JIL9" } ], "reference": [ { "type": "PubMed", "id": "10908350", "url": "https://glygen.org/publication/PubMed/10908350" } ] }, { "title": "Quantitative maps of protein phosphorylation sites across 14 different rat organs and tissues.", "journal": "Nature communications", "date": "2012", "authors": "Lundby A, Secher A, Lage K, Nordsborg NB, Dmytriyev A, Lundby C, Olsen JV", "evidence": [ { "database": "UniProtKB", "id": "Q9JIL9", "url": "https://www.uniprot.org/uniprot/Q9JIL9" }, { "database": "UniProtKB", "id": "G3V766", "url": "https://www.uniprot.org/uniprot/G3V766" }, { "database": "iPTMnet", "id": "Q9JIL9", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9JIL9" } ], "reference": [ { "type": "PubMed", "id": "22673903", "url": "https://glygen.org/publication/PubMed/22673903" } ] } ], "pathway": [ { "id": "rno:85482", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+rno:85482", "resource": "KEGG Pathway" }, { "id": "R-RNO-2559586", "name": "DNA Damage/Telomere Stress Induced Senescence", "url": "https://www.reactome.org/PathwayBrowser/#R-RNO-2559586", "resource": "Reactome", "description": "DNA Damage/Telomere Stress Induced Senescence" }, { "id": "R-RNO-5685938", "name": "HDR through Single Strand Annealing (SSA)", "url": "https://www.reactome.org/PathwayBrowser/#R-RNO-5685938", "resource": "Reactome", "description": "HDR through Single Strand Annealing (SSA)" }, { "id": "R-RNO-5685939", "name": "HDR through MMEJ (alt-NHEJ)", "url": "https://www.reactome.org/PathwayBrowser/#R-RNO-5685939", "resource": "Reactome", "description": "HDR through MMEJ (alt-NHEJ)" }, { "id": "R-RNO-5685942", "name": "HDR through Homologous Recombination (HRR)", "url": "https://www.reactome.org/PathwayBrowser/#R-RNO-5685942", "resource": "Reactome", "description": "HDR through Homologous Recombination (HRR)" }, { "id": "R-RNO-5693537", "name": "Resolution of D-Loop Structures", "url": "https://www.reactome.org/PathwayBrowser/#R-RNO-5693537", "resource": "Reactome", "description": "Resolution of D-Loop Structures" }, { "id": "R-RNO-5693548", "name": "Sensing of DNA Double Strand Breaks", "url": "https://www.reactome.org/PathwayBrowser/#R-RNO-5693548", "resource": "Reactome", "description": "Sensing of DNA Double Strand Breaks" }, { "id": "R-RNO-5693565", "name": "Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks", "url": "https://www.reactome.org/PathwayBrowser/#R-RNO-5693565", "resource": "Reactome", "description": "Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks" }, { "id": "R-RNO-5693568", "name": "Resolution of D-loop Structures through Holliday Junction Intermediates", "url": "https://www.reactome.org/PathwayBrowser/#R-RNO-5693568", "resource": "Reactome", "description": "Resolution of D-loop Structures through Holliday Junction Intermediates" }, { "id": "R-RNO-5693571", "name": "Nonhomologous End-Joining (NHEJ)", "url": "https://www.reactome.org/PathwayBrowser/#R-RNO-5693571", "resource": "Reactome", "description": "Nonhomologous End-Joining (NHEJ)" }, { "id": "R-RNO-5693579", "name": "Homologous DNA Pairing and Strand Exchange", "url": "https://www.reactome.org/PathwayBrowser/#R-RNO-5693579", "resource": "Reactome", "description": "Homologous DNA Pairing and Strand Exchange" }, { "id": "R-RNO-5693607", "name": "Processing of DNA double-strand break ends", "url": "https://www.reactome.org/PathwayBrowser/#R-RNO-5693607", "resource": "Reactome", "description": "Processing of DNA double-strand break ends" }, { "id": "R-RNO-5693616", "name": "Presynaptic phase of homologous DNA pairing and strand exchange", "url": "https://www.reactome.org/PathwayBrowser/#R-RNO-5693616", "resource": "Reactome", "description": "Presynaptic phase of homologous DNA pairing and strand exchange" }, { "id": "R-RNO-6804756", "name": "Regulation of TP53 Activity through Phosphorylation", "url": "https://www.reactome.org/PathwayBrowser/#R-RNO-6804756", "resource": "Reactome", "description": "Regulation of TP53 Activity through Phosphorylation" }, { "id": "R-RNO-69473", "name": "G2/M DNA damage checkpoint", "url": "https://www.reactome.org/PathwayBrowser/#R-RNO-69473", "resource": "Reactome", "description": "G2/M DNA damage checkpoint" } ], "orthologs": [ { "uniprot_canonical_ac": "O60934-1", "protein_name": "Nibrin", "gene_name": "NBN", "tax_id": 9606, "organism": "Homo sapiens", "sequence": { "sequence": "MWKLLPAAGPAGGEPYRLLTGVEYVVGRKNCAILIENDQSISRNHAVLTANFSVTNLSQTDEIPVLTLKDNSKYGTFVNEEKMQNGFSRTLKSGDGITFGVFGSKFRIEYEPLVACSSCLDVSGKTALNQAILQLGGFTVNNWTEECTHLVMVSVKVTIKTICALICGRPIVKPEYFTEFLKAVESKKQPPQIESFYPPLDEPSIGSKNVDLSGRQERKQIFKGKTFIFLNAKQHKKLSSAVVFGGGEARLITEENEEEHNFFLAPGTCVVDTGITNSQTLIPDCQKKWIQSIMDMLQRQGLRPIPEAEIGLAVIFMTTKNYCDPQGHPSTGLKTTTPGPSLSQGVSVDEKLMPSAPVNTTTYVADTESEQADTWDLSERPKEIKVSKMEQKFRMLSQDAPTVKESCKTSSNNNSMVSNTLAKMRIPNYQLSPTKLPSINKSKDRASQQQQTNSIRNYFQPSTKKRERDEENQEMSSCKSARIETSCSLLEQTQPATPSLWKNKEQHLSENEPVDTNSDNNLFTDTDLKSIVKNSASKSHAAEKLRSNKKREMDDVAIEDEVLEQLFKDTKPELEIDVKVQKQEEDVNVRKRPRMDIETNDTFSDEAVPESSKISQENEIGKKRELKEDSLWSAKEISNNDKLQDDSEMLPKKLLLTEFRSLVIKNSTSRNPSGINDDYGQLKNFKKFKKVTYPGAGKLPHIIGGSDLIAHHARKNTELEEWLRQEMEVQNQHAKEESLADDLFRYNPYLKRRR", "length": 754 }, "evidence": [ { "id": "45233183", "url": "http://www.informatics.jax.org/homology/45233183", "database": "MGI" } ], "common_name": "Human" }, { "uniprot_canonical_ac": "Q9R207-1", "protein_name": "Nibrin", "gene_name": "Nbn", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MWKLLPAAGAAPGEPYRLLAGVEYVVGRKNCGILIENDQSISRNHAVLTVNFPVTSLSQTDEIPTLTIKDNSKYGTFVNEEKMQTGLSCTLKTGDRVTFGVFESKFRVEYEPLVVCSSCLDVSGKTVLNQAILQLGGLTANNWTEECTHLVMSAVKVTIKTICALICGRPIIKPEYFSEFLKAVESKKQPPDIESFYPPIDEPAIGSKSVDLSGRHERKQIFKGKTFVFLNAKQHKKLSSAVAFGGGEARLMAEDDEEEQSFFSAPGTCVVDVGITNTQLIISHSQKKWIHLIMDTLQRNGLRPIPEAEIGLAVIFMTTENYCNPQGQPCTELKTTTPGPSLSQVLSANGKIIPSAPVNMTTYVADTESEPADTCMPLSERPEEVKIPGLEQSSRKLSQETFNIKEAPKPSSKANNVASDTLVRGKTPSYQLSPMKFPVANKNKDWTSQQQQNSIKNYFQPCTRKRERDEDNPELSSCKSSRMELSCSLLEQTQPAGPSLWKSKEHQSQNATLDREADTSSVGGMDIELNRKSPDRKPLPTETLRPRKRKDVDLATEEEVLEELLRSTKPELAVQVKVEKQEADDTIRKKPRMDAERNRPLNGGSEPESNSALQEDEREKKDELQTESWSTKHEIANSDGLQDSSEELPRKLLLTEFRSLVVSNHNSTSRNLCVNECGPLKNFKKFKKATFPGAGKLPHIIGGSDLVGHHARKNTELEEWLKQEMEVQKQQAKEESLADDLFRYNPNVKRR", "length": 751 }, "evidence": [ { "id": "45233183", "url": "http://www.informatics.jax.org/homology/45233183", "database": "MGI" } ], "common_name": "Mouse" } ], "go_annotation": { "categories": [ { "name": "Cellular Component", "total": 10, "go_terms": [ { "name": "nucleolus", "id": "GO:0005730", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005730", "evidence": [ { "database": "UniProtKB", "id": "Q9JIL9", "url": "https://www.uniprot.org/uniprot/Q9JIL9" } ], "pmid": "" }, { "name": "Golgi apparatus", "id": "GO:0005794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005794", "evidence": [ { "database": "UniProtKB", "id": "Q9JIL9", "url": "https://www.uniprot.org/uniprot/Q9JIL9" } ], "pmid": "" }, { "name": "PML body", "id": "GO:0016605", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016605", "evidence": [ { "database": "UniProtKB", "id": "Q9JIL9", "url": "https://www.uniprot.org/uniprot/Q9JIL9" } ], "pmid": "" }, { "name": "site of double-strand break", "id": "GO:0035861", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035861", "evidence": [ { "database": "UniProtKB", "id": "Q9JIL9", "url": "https://www.uniprot.org/uniprot/Q9JIL9" } ], "pmid": "" }, { "name": "replication fork", "id": "GO:0005657", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005657", "evidence": [ { "database": "UniProtKB", "id": "Q9JIL9", "url": "https://www.uniprot.org/uniprot/Q9JIL9" } ], "pmid": "" }, { "name": "nuclear inclusion body", "id": "GO:0042405", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042405", "evidence": [ { "database": "UniProtKB", "id": "Q9JIL9", "url": "https://www.uniprot.org/uniprot/Q9JIL9" } ], "pmid": "" }, { "name": "chromosome, telomeric region", "id": "GO:0000781", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000781", "evidence": [ { "database": "UniProtKB", "id": "Q9JIL9", "url": "https://www.uniprot.org/uniprot/Q9JIL9" } ], "pmid": "" }, { "name": "Mre11 complex", "id": "GO:0030870", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030870", "evidence": [ { "database": "UniProtKB", "id": "Q9JIL9", "url": "https://www.uniprot.org/uniprot/Q9JIL9" } ], "pmid": "" }, { "name": "BRCA1-C complex", "id": "GO:0070533", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070533", "evidence": [ { "database": "UniProtKB", "id": "Q9JIL9", "url": "https://www.uniprot.org/uniprot/Q9JIL9" } ], "pmid": "" }, { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q9JIL9", "url": "https://www.uniprot.org/uniprot/Q9JIL9" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 25, "go_terms": [ { "name": "neuromuscular process controlling balance", "id": "GO:0050885", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050885", "evidence": [ { "database": "UniProtKB", "id": "Q9JIL9", "url": "https://www.uniprot.org/uniprot/Q9JIL9" } ], "pmid": "" }, { "name": "positive regulation of kinase activity", "id": "GO:0033674", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033674", "evidence": [ { "database": "UniProtKB", "id": "Q9JIL9", "url": "https://www.uniprot.org/uniprot/Q9JIL9" } ], "pmid": "" }, { "name": "double-strand break repair", "id": "GO:0006302", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006302", "evidence": [ { "database": "UniProtKB", "id": "Q9JIL9", "url": "https://www.uniprot.org/uniprot/Q9JIL9" } ], "pmid": "" }, { "name": "intrinsic apoptotic signaling pathway", "id": "GO:0097193", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097193", "evidence": [ { "database": "UniProtKB", "id": "Q9JIL9", "url": "https://www.uniprot.org/uniprot/Q9JIL9" } ], "pmid": "" }, { "name": "isotype switching", "id": "GO:0045190", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045190", "evidence": [ { "database": "UniProtKB", "id": "Q9JIL9", "url": "https://www.uniprot.org/uniprot/Q9JIL9" } ], "pmid": "" }, { "name": "DNA duplex unwinding", "id": "GO:0032508", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032508", "evidence": [ { "database": "UniProtKB", "id": "Q9JIL9", "url": "https://www.uniprot.org/uniprot/Q9JIL9" } ], "pmid": "" }, { "name": "neuroblast proliferation", "id": "GO:0007405", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007405", "evidence": [ { "database": "UniProtKB", "id": "Q9JIL9", "url": "https://www.uniprot.org/uniprot/Q9JIL9" } ], "pmid": "" }, { "name": "mitotic G2 DNA damage checkpoint signaling", "id": "GO:0007095", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007095", "evidence": [ { "database": "UniProtKB", "id": "Q9JIL9", "url": "https://www.uniprot.org/uniprot/Q9JIL9" } ], "pmid": "" }, { "name": "t-circle formation", "id": "GO:0090656", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090656", "evidence": [ { "database": "UniProtKB", "id": "Q9JIL9", "url": "https://www.uniprot.org/uniprot/Q9JIL9" } ], "pmid": "" }, { "name": "positive regulation of protein autophosphorylation", "id": "GO:0031954", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031954", "evidence": [ { "database": "UniProtKB", "id": "Q9JIL9", "url": "https://www.uniprot.org/uniprot/Q9JIL9" } ], "pmid": "" }, { "name": "blastocyst growth", "id": "GO:0001832", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001832", "evidence": [ { "database": "UniProtKB", "id": "Q9JIL9", "url": "https://www.uniprot.org/uniprot/Q9JIL9" } ], "pmid": "" }, { "name": "meiotic cell cycle", "id": "GO:0051321", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051321", "evidence": [ { "database": "UniProtKB", "id": "Q9JIL9", "url": "https://www.uniprot.org/uniprot/Q9JIL9" } ], "pmid": "" }, { "name": "negative regulation of telomere capping", "id": "GO:1904354", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904354", "evidence": [ { "database": "UniProtKB", "id": "Q9JIL9", "url": "https://www.uniprot.org/uniprot/Q9JIL9" } ], "pmid": "" }, { "name": "positive regulation of telomere maintenance", "id": "GO:0032206", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032206", "evidence": [ { "database": "UniProtKB", "id": "Q9JIL9", "url": "https://www.uniprot.org/uniprot/Q9JIL9" } ], "pmid": "" }, { "name": "telomeric 3' overhang formation", "id": "GO:0031860", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031860", "evidence": [ { "database": "UniProtKB", "id": "Q9JIL9", "url": "https://www.uniprot.org/uniprot/Q9JIL9" } ], "pmid": "" }, { "name": "telomere maintenance", "id": "GO:0000723", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000723", "evidence": [ { "database": "UniProtKB", "id": "Q9JIL9", "url": "https://www.uniprot.org/uniprot/Q9JIL9" } ], "pmid": "" }, { "name": "in utero embryonic development", "id": "GO:0001701", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001701", "evidence": [ { "database": "UniProtKB", "id": "Q9JIL9", "url": "https://www.uniprot.org/uniprot/Q9JIL9" } ], "pmid": "" }, { "name": "positive regulation of cell population proliferation", "id": "GO:0008284", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008284", "evidence": [ { "database": "UniProtKB", "id": "Q9JIL9", "url": "https://www.uniprot.org/uniprot/Q9JIL9" } ], "pmid": "" }, { "name": "negative regulation of neuron differentiation", "id": "GO:0045665", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045665", "evidence": [ { "database": "UniProtKB", "id": "Q9JIL9", "url": "https://www.uniprot.org/uniprot/Q9JIL9" } ], "pmid": "" }, { "name": "double-strand break repair via homologous recombination", "id": "GO:0000724", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000724", "evidence": [ { "database": "UniProtKB", "id": "Q9JIL9", "url": "https://www.uniprot.org/uniprot/Q9JIL9" } ], "pmid": "" }, { "name": "response to xenobiotic stimulus", "id": "GO:0009410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009410", "evidence": [ { "database": "UniProtKB", "id": "Q9JIL9", "url": "https://www.uniprot.org/uniprot/Q9JIL9" } ], "pmid": "" }, { "name": "DNA damage checkpoint signaling", "id": "GO:0000077", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000077", "evidence": [ { "database": "UniProtKB", "id": "Q9JIL9", "url": "https://www.uniprot.org/uniprot/Q9JIL9" } ], "pmid": "" }, { "name": "telomere maintenance via telomere trimming", "id": "GO:0090737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090737", "evidence": [ { "database": "UniProtKB", "id": "Q9JIL9", "url": "https://www.uniprot.org/uniprot/Q9JIL9" } ], "pmid": "" }, { "name": "regulation of fibroblast proliferation", "id": "GO:0048145", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048145", "evidence": [ { "database": "UniProtKB", "id": "Q9JIL9", "url": "https://www.uniprot.org/uniprot/Q9JIL9" } ], "pmid": "" }, { "name": "negative regulation of viral entry into host cell", "id": "GO:0046597", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046597", "evidence": [ { "database": "UniProtKB", "id": "Q9JIL9", "url": "https://www.uniprot.org/uniprot/Q9JIL9" } ], "pmid": "" } ] }, { "name": "Molecular Function", "total": 2, "go_terms": [ { "name": "damaged DNA binding", "id": "GO:0003684", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003684", "evidence": [ { "database": "UniProtKB", "id": "Q9JIL9", "url": "https://www.uniprot.org/uniprot/Q9JIL9" } ], "pmid": "" }, { "name": "DNA-binding transcription factor binding", "id": "GO:0140297", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140297", "evidence": [ { "database": "UniProtKB", "id": "Q9JIL9", "url": "https://www.uniprot.org/uniprot/Q9JIL9" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [ { "start_pos": 207, "end_pos": 209, "annotation": "n_glycosylation_sequon" }, { "start_pos": 359, "end_pos": 361, "annotation": "n_glycosylation_sequon" }, { "start_pos": 409, "end_pos": 411, "annotation": "n_glycosylation_sequon" }, { "start_pos": 518, "end_pos": 520, "annotation": "n_glycosylation_sequon" }, { "start_pos": 664, "end_pos": 666, "annotation": "n_glycosylation_sequon" }, { "start_pos": 665, "end_pos": 667, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [ { "annotation": "Phosphorylated by ATM in response of ionizing radiation, and such phosphorylation is responsible intra-S phase checkpoint control and telomere maintenance.", "evidence": [ { "database": "UniProtKB", "id": "Q9JIL9", "url": "https://www.uniprot.org/uniprot/Q9JIL9" }, { "database": "PubMed", "id": "O60934", "url": "https://glygen.org/publication/PubMed/O60934" } ] } ], "interactions": [], "reactions": [], "reaction_participants": [], "reaction_enzymes": [], "biomarkers": [], "synthesized_glycans": [], "cluster_types": [ { "name": "isoformset.uniprotkb", "label": "Isoforms" }, { "name": "homologset.mgi", "label": "MGI Homologs" } ], "section_stats": [ { "table_id": "glycosylation", "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", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 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": 6 }, { "field": "total_sites", "count": 6 } ], "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": 2 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }