{ "uniprot_canonical_ac": "A0A6H2EEY2-1", "uniprot_ac": "A0A6H2EEY2", "uniprot_id": "A0A6H2EEY2_DROME", "mass": { "chemical_mass": 74767.0, "monoisotopic_mass": 74767.0 }, "refseq": { "ac": "NP_001014629", "name": "daughters against dpp, isoform C", "summary": "", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001014629" }, "gene_names": [ { "name": "Dad", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/A0A6H2EEY2", "id": "A0A6H2EEY2" }, { "name": "1883; anon-EST:fe1F5; CG5201; dad; DAD; Dmel\\CG5201; EP(3)3196; EP3196; l(3)j1E4; Smad7", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001014629", "id": "NP_001014629" }, { "name": "1883", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/A0A6H2EEY2", "id": "A0A6H2EEY2" }, { "name": "CG5201", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/A0A6H2EEY2", "id": "A0A6H2EEY2" }, { "name": "DAD", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/A0A6H2EEY2", "id": "A0A6H2EEY2" }, { "name": "Dad", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001014629", "id": "NP_001014629" }, { "name": "Dmel\\CG5201", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/A0A6H2EEY2", "id": "A0A6H2EEY2" }, { "name": "Dmel_CG5201", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/A0A6H2EEY2", "id": "A0A6H2EEY2" }, { "name": "EP(3)3196", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/A0A6H2EEY2", "id": "A0A6H2EEY2" }, { "name": "EP3196", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/A0A6H2EEY2", "id": "A0A6H2EEY2" }, { "name": "anon-EST:fe1F5", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/A0A6H2EEY2", "id": "A0A6H2EEY2" }, { "name": "dad", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/A0A6H2EEY2", "id": "A0A6H2EEY2" }, { "name": "l(3)j1E4", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/A0A6H2EEY2", "id": "A0A6H2EEY2" } ], "protein_names": [ { "name": "Mothers against decapentaplegic homolog", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "A0A6H2EEY2" }, { "name": "CG5201-PC; Dad-PC; daughters against Dpp; daughter against dpp; anon-fast-evolving-1F5", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001014629", "id": "NP_001014629" }, { "name": "MAD homolog", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "A0A6H2EEY2" }, { "name": "Mothers against DPP homolog", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "A0A6H2EEY2" }, { "name": "SMAD family member", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "A0A6H2EEY2" }, { "name": "daughters against dpp, isoform C", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001014629", "id": "NP_001014629" } ], "function": [], "disease": [ { "disease_id": "DOID:0050156", "recommended_name": { "id": "DOID:0050156", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050156", "name": "idiopathic pulmonary fibrosis", "description": "A pulmonary fibrosis that is characterized by scarring of the lung." }, "synonyms": [ { "id": "DOID:0050156", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050156", "name": "FIBROCYSTIC PULMONARY DYSPLASIA", "description": "" }, { "id": "DOID:0050156", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050156", "name": "IDIOPATHIC PULMONARY FIBROSIS, FAMILIAL", "description": "" }, { "id": "DOID:0050156", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050156", "name": "cryptogenic fibrosing alveolitis", "description": "" }, { "id": "MONDO:0800029", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0800029", "name": "interstitial lung disease 2", "description": "A nonneoplastic pulmonary disease that is characterized by the formation of scar tissue within the lungs in the absence of any known cause." }, { "id": "MONDO:0800029", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0800029", "name": "CFA", "description": "" }, { "id": "MONDO:0800029", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0800029", "name": "ILD2", "description": "" }, { "id": "MONDO:0800029", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0800029", "name": "IPF", "description": "" }, { "id": "MONDO:0800029", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0800029", "name": "UIP", "description": "" }, { "id": "MONDO:0800029", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0800029", "name": "cryptogenic fibrosing alveolitis", "description": "" }, { "id": "MONDO:0800029", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0800029", "name": "fibrocystic pulmonary dysplasia", "description": "" }, { "id": "MONDO:0800029", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0800029", "name": "fibrosing alveolitis, cryptogenic", "description": "" }, { "id": "MONDO:0800029", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0800029", "name": "idiopathic pulmonary fibrosis, familial", "description": "" }, { "id": "MONDO:0800029", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0800029", "name": "interstitial pneumonitis, usual", "description": "" }, { "id": "MONDO:0800029", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0800029", "name": "usual interstitial pneumonia", "description": "" }, { "id": "MONDO:0800029", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0800029", "name": "Hamman-rich disease", "description": "" }, { "id": "MONDO:0800029", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0800029", "name": "familial idiopathic pulmonary fibrosis", "description": "" }, { "id": "MONDO:0800029", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0800029", "name": "fibrosing alveolitis", "description": "" }, { "id": "MONDO:0800029", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0800029", "name": "pulmonary fibrosis, idiopathic", "description": "" }, { "id": "MIM:178500", "resource": "MIM", "url": "https://www.omim.org/entry/178500", "name": "Interstitial lung disease 2", "description": "Interstitial lung disease 2" } ], "evidence": [ { "id": "0050156", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0050156" } ] }, { "disease_id": "DOID:0080334", "recommended_name": { "id": "DOID:0080334", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080334", "name": "aortic valve disease 2", "description": "A bicuspid aortic valve disease that has_material_basis_in heterozygous mutation in the SMAD6 gene on chromosome 15q22." }, "synonyms": [ { "id": "MONDO:0013902", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013902", "name": "aortic valve disease 2", "description": "Any aortic valve disease in which the cause of the disease is a mutation in the SMAD6 gene." }, { "id": "MONDO:0013902", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013902", "name": "SMAD6 aortic valve disease", "description": "" }, { "id": "MONDO:0013902", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013902", "name": "aortic valve disease 2", "description": "" }, { "id": "MONDO:0013902", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013902", "name": "aortic valve disease caused by mutation in SMAD6", "description": "" }, { "id": "MONDO:0013902", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013902", "name": "aortic valve disease type 2", "description": "" }, { "id": "MONDO:0013902", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013902", "name": "AOVD2", "description": "" }, { "id": "MONDO:0013902", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013902", "name": "aortic valve stenosis", "description": "" }, { "id": "MONDO:0013902", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013902", "name": "bicuspid aortic valve", "description": "" }, { "id": "MIM:614823", "resource": "MIM", "url": "https://www.omim.org/entry/614823", "name": "Aortic valve disease 2", "description": "Aortic valve disease 2" } ], "evidence": [ { "id": "0080334", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0080334" } ] }, { "disease_id": "DOID:10952", "recommended_name": { "id": "DOID:10952", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10952", "name": "nephritis", "description": "A kidney disease that is characterized by an inflammation of the kidneys." }, "synonyms": [], "evidence": [ { "id": "10952", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:10952" } ] }, { "disease_id": "DOID:1380", "recommended_name": { "id": "DOID:1380", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1380", "name": "endometrial cancer", "description": "A uterine cancer that is located_in tissues lining the uterus." }, "synonyms": [ { "id": "DOID:1380", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1380", "name": "endometrial Ca", "description": "" }, { "id": "DOID:1380", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1380", "name": "endometrial neoplasm", "description": "" }, { "id": "DOID:1380", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1380", "name": "malignant endometrial neoplasm", "description": "" }, { "id": "DOID:1380", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1380", "name": "malignant neoplasm of endometrium", "description": "" }, { "id": "DOID:1380", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1380", "name": "neoplasm of endometrium", "description": "" }, { "id": "DOID:1380", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1380", "name": "primary malignant neoplasm of endometrium", "description": "" }, { "id": "DOID:1380", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1380", "name": "tumor of Endometrium", "description": "" }, { "id": "MONDO:0011962", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011962", "name": "endometrial cancer", "description": "Primary or metastatic malignant neoplasm involving the endometrium (mucous membrane that lines the endometrial cavity)." }, { "id": "MONDO:0011962", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011962", "name": "endometrial neoplasm", "description": "" }, { "id": "MONDO:0011962", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011962", "name": "neoplasm of endometrium", "description": "" }, { "id": "MONDO:0011962", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011962", "name": "tumor of endometrium", "description": "" }, { "id": "MONDO:0011962", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011962", "name": "tumour of endometrium", "description": "" }, { "id": "MONDO:0011962", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011962", "name": "cancer of endometrium", "description": "" }, { "id": "MONDO:0011962", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011962", "name": "endometrial Ca", "description": "" }, { "id": "MONDO:0011962", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011962", "name": "endometrial cancer", "description": "" }, { "id": "MONDO:0011962", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011962", "name": "endometrial cancer, familial, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0011962", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011962", "name": "endometrial cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0011962", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011962", "name": "endometrial carcinoma, somatic", "description": "" }, { "id": "MONDO:0011962", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011962", "name": "endometrium cancer", "description": "" }, { "id": "MONDO:0011962", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011962", "name": "malignant endometrial neoplasm", "description": "" }, { "id": "MONDO:0011962", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011962", "name": "malignant endometrium neoplasm", "description": "" }, { "id": "MONDO:0011962", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011962", "name": "malignant neoplasm of endometrium", "description": "" }, { "id": "MONDO:0011962", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011962", "name": "primary malignant neoplasm of endometrium", "description": "" }, { "id": "MIM:608089", "resource": "MIM", "url": "https://www.omim.org/entry/608089", "name": "Endometrial cancer", "description": "Endometrial cancer" } ], "evidence": [ { "id": "1380", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:1380" } ] }, { "disease_id": "DOID:1793", "recommended_name": { "id": "DOID:1793", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1793", "name": "pancreatic cancer", "description": "An endocrine gland cancer located_in the pancreas." }, "synonyms": [ { "id": "DOID:1793", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1793", "name": "Ca body of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1793", "name": "Ca head of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1793", "name": "Ca tail of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of body of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of head of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of tail of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1793", "name": "pancreas neoplasm", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1793", "name": "pancreatic neoplasm", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1793", "name": "pancreatic tumor", "description": "" } ], "evidence": [ { "id": "1793", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:1793" } ] }, { "disease_id": "DOID:2340", "recommended_name": { "id": "DOID:2340", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2340", "name": "craniosynostosis", "description": "A synostosis that results_in premature fusion located_in skull." }, "synonyms": [ { "id": "DOID:2340", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2340", "name": "Premature closure of cranial sutures", "description": "" }, { "id": "MONDO:0014128", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014128", "name": "TCF12-related craniosynostosis", "description": "Any syndromic craniosynostosis in which the cause of the disease is a mutation in the TCF12 gene." }, { "id": "MONDO:0014128", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014128", "name": "TCF12 craniosynostosis", "description": "" }, { "id": "MONDO:0014128", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014128", "name": "TCF12-related craniosynostosis", "description": "" }, { "id": "MONDO:0014128", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014128", "name": "craniosynostosis 3", "description": "" }, { "id": "MONDO:0014128", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014128", "name": "craniosynostosis caused by mutation in TCF12", "description": "" }, { "id": "MONDO:0014128", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014128", "name": "craniosynostosis type 3", "description": "" }, { "id": "MONDO:0014128", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014128", "name": "CRS3", "description": "" }, { "id": "MONDO:0011481", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011481", "name": "craniosynostosis 2", "description": "A form of syndromic craniosynostosis, characterized by a highly variable craniosynostosis with frontal bossing, turribrachycephaly and cloverleaf skull anomaly. Hypoplasia of the supraorbital ridges, cleft palate, extra teeth and limb anomalies (triphalangeal thumb, 3-4 syndactyly of the hands, a short first metatarsal, middle phalangeal agenesis in the feet) have also been described. Associated problems include headache, poor vision, and seizures. Intelligence is normal." }, { "id": "MONDO:0011481", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011481", "name": "CRS2", "description": "" }, { "id": "MONDO:0011481", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011481", "name": "MSX2-related craniosynostosis", "description": "" }, { "id": "MONDO:0011481", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011481", "name": "Warman-Mulliken-Hayward syndrome", "description": "" }, { "id": "MONDO:0011481", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011481", "name": "craniosynostosis 2", "description": "" }, { "id": "MONDO:0011481", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011481", "name": "craniosynostosis type 2", "description": "" }, { "id": "MONDO:0011481", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011481", "name": "craniosynostosis, Warman type", "description": "" }, { "id": "MONDO:0011481", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011481", "name": "Warman Mulliken Hayward syndrome", "description": "" }, { "id": "MONDO:0011481", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011481", "name": "craniosynostosis Warman type", "description": "" }, { "id": "MONDO:0010929", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010929", "name": "craniosynostosis 4", "description": "Any craniosynostosis in which the cause of the disease is a mutation in the ERF gene." }, { "id": "MONDO:0010929", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010929", "name": "ERF craniosynostosis", "description": "" }, { "id": "MONDO:0010929", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010929", "name": "ERF-related craniosynostosis", "description": "" }, { "id": "MONDO:0010929", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010929", "name": "craniosynostosis 4", "description": "" }, { "id": "MONDO:0010929", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010929", "name": "craniosynostosis caused by mutation in ERF", "description": "" }, { "id": "MONDO:0010929", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010929", "name": "craniosynostosis type 4", "description": "" }, { "id": "MONDO:0010929", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010929", "name": "CRS4", "description": "" }, { "id": "MONDO:0010903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010903", "name": "craniosynostosis, Adelaide type", "description": "" }, { "id": "MONDO:0010903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010903", "name": "craniosynostosis, Adelaide type", "description": "" }, { "id": "MONDO:0010903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010903", "name": "CRSA", "description": "" }, { "id": "MONDO:0008426", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008426", "name": "Shprintzen-Goldberg syndrome", "description": "Shprintzen-Goldberg syndrome (SGS) is a very rare genetic disorder characterized by craniosynostosis, craniofacial and skeletal abnormalities, marfanoid habitus, cardiac anomalies, neurological abnormalities, and intellectual disability." }, { "id": "MONDO:0008426", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008426", "name": "Marfanoid craniosynostosis syndrome", "description": "" }, { "id": "MONDO:0008426", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008426", "name": "SGS", "description": "" }, { "id": "MONDO:0008426", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008426", "name": "Shprintzen-Goldberg syndrome", "description": "" }, { "id": "MONDO:0008426", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008426", "name": "Marfanoid disorder with craniosynostosis type 1", "description": "" }, { "id": "MONDO:0008426", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008426", "name": "Marfanoid disorder with craniosynostosis, type 1", "description": "" }, { "id": "MONDO:0008426", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008426", "name": "Marfanoid-craniosynostosis syndrome", "description": "" }, { "id": "MONDO:0008426", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008426", "name": "Shprintzen-Goldberg craniosynostosis syndrome", "description": "" }, { "id": "MONDO:0008426", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008426", "name": "Shprintzen-Goldberg marfanoid syndrome", "description": "" }, { "id": "MONDO:0008426", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008426", "name": "craniosynostosis with arachnodactyly and abdominal hernias", "description": "" }, { "id": "MONDO:0007399", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007399", "name": "TWIST1-related craniosynostosis", "description": "Any craniosynostosis in which the cause of the disease is a mutation in the TWIST1 gene." }, { "id": "MONDO:0007399", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007399", "name": "TWIST1-related craniosynostosis", "description": "" }, { "id": "MONDO:0007399", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007399", "name": "craniosynostosis 1", "description": "" }, { "id": "MONDO:0007399", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007399", "name": "craniosynostosis type 1", "description": "" }, { "id": "MONDO:0007399", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007399", "name": "CRS", "description": "" }, { "id": "MONDO:0007399", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007399", "name": "CRS1", "description": "" }, { "id": "MONDO:0007399", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007399", "name": "craniostenosis", "description": "" }, { "id": "MIM:615314", "resource": "MIM", "url": "https://www.omim.org/entry/615314", "name": "Craniosynostosis 3", "description": "Craniosynostosis 3" }, { "id": "MIM:604757", "resource": "MIM", "url": "https://www.omim.org/entry/604757", "name": "Craniosynostosis 2", "description": "Craniosynostosis 2" }, { "id": "MIM:600775", "resource": "MIM", "url": "https://www.omim.org/entry/600775", "name": "Craniosynostosis 4", "description": "Craniosynostosis 4" }, { "id": "MIM:182212", "resource": "MIM", "url": "https://www.omim.org/entry/182212", "name": "Shprintzen-Goldberg craniosynostosis syndrome", "description": "Shprintzen-Goldberg craniosynostosis syndrome" }, { "id": "MIM:123100", "resource": "MIM", "url": "https://www.omim.org/entry/123100", "name": "Craniosynostosis 1", "description": "Craniosynostosis 1" } ], "evidence": [ { "id": "2340", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:2340" } ] }, { "disease_id": "DOID:4074", "recommended_name": { "id": "DOID:4074", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4074", "name": "pancreatic adenocarcinoma", "description": "A pancreatic carcinoma that derives_from epithelial cells of glandular origin." }, "synonyms": [ { "id": "DOID:4074", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4074", "name": "pancreas adenocarcinoma", "description": "" } ], "evidence": [ { "id": "4074", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:4074" } ] }, { "disease_id": "DOID:5082", "recommended_name": { "id": "DOID:5082", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5082", "name": "liver cirrhosis", "description": "" }, "synonyms": [ { "id": "DOID:5082", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5082", "name": "Cirrhosis", "description": "" }, { "id": "DOID:5082", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5082", "name": "cirrhosis of liver", "description": "" }, { "id": "MONDO:0005155", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005155", "name": "cirrhosis of liver", "description": "A disorder characterized by replacement of the liver parenchyma with fibrous tissue and regenerative nodules. It is usually caused by alcoholism, hepatitis B, and hepatitis C. Complications include the development of ascites, esophageal varices, bleeding, and hepatic encephalopathy." }, { "id": "MONDO:0005155", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005155", "name": "cirrhosis", "description": "" }, { "id": "MONDO:0005155", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005155", "name": "cirrhosis of liver", "description": "" }, { "id": "MONDO:0005155", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005155", "name": "liver cirrhosis", "description": "" } ], "evidence": [ { "id": "5082", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:5082" } ] }, { "disease_id": "DOID:6432", "recommended_name": { "id": "DOID:6432", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:6432", "name": "pulmonary hypertension", "description": "A hypertension characterized by an increase of blood pressure in the pulmonary artery, pulmonary vein or pulmonary capillaries." }, "synonyms": [], "evidence": [ { "id": "6432", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:6432" } ] }, { "disease_id": "DOID:684", "recommended_name": { "id": "DOID:684", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:684", "name": "hepatocellular carcinoma", "description": "A liver carcinoma that has_material_basis_in undifferentiated hepatocytes and located_in the liver." }, "synonyms": [ { "id": "DOID:684", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:684", "name": "Hepatoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatocellular carcinoma", "description": "A malignant tumor that arises from hepatocytes. Hepatocellular carcinoma is relatively rare in the United States but very common in all African countries south of the Sahara and in Southeast Asia. Most cases are seen in patients over the age of 50 years, but this tumor can also occur in younger individuals and even in children. Hepatocellular carcinoma is more common in males than females and is associated with hepatitis B, hepatitis C, chronic alcohol abuse and cirrhosis. Serum elevation of alpha-fetoprotein occurs in a large percentage of patients with hepatocellular carcinoma. Grossly, hepatocellular carcinoma may present as a single mass, as multiple nodules, or as diffuse liver involvement. Microscopically, there is a wide range of differentiation from tumor to tumor (well differentiated to poorly differentiated tumors). Hepatocellular carcinomas quickly metastasize to regional lymph nodes and lung. The overall median survival of untreated liver cell carcinoma is about 4 months. The most effective treatment of hepatocellular carcinoma is complete resection of the tumor. Lately, an increasing number of tumors have been treated with liver transplantation." }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "HCC", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "cancer, hepatocellular", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "carcinoma of liver", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "carcinoma of liver cells", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "carcinoma of the liver cells", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "carcinoma, hepatocellular, malignant", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatoblastoma, somatic", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatocellular adenocarcinoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatocellular cancer", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatocellular cancer, somatic", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatocellular carcinoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatocellular carcinoma, childhood type, somatic", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatocellular carcinoma, somatic", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "liver carcinoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "liver cell cancer (hepatocellular carcinoma)", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "liver cell carcinoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "primary carcinoma of liver cells", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "primary carcinoma of the liver cells", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "adult hepatoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "adult primary hepatocellular carcinoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatoblastoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatoblastoma caused by somatic mutation", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "liver and intrahepatic bile duct carcinoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "liver cancer", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatocellular carcinoma", "description": "A malignant tumor that arises from hepatocytes. Hepatocellular carcinoma is relatively rare in the United States but very common in all African countries south of the Sahara and in Southeast Asia. Most cases are seen in patients over the age of 50 years, but this tumor can also occur in younger individuals and even in children. Hepatocellular carcinoma is more common in males than females and is associated with hepatitis B, hepatitis C, chronic alcohol abuse and cirrhosis. Serum elevation of alpha-fetoprotein occurs in a large percentage of patients with hepatocellular carcinoma. Grossly, hepatocellular carcinoma may present as a single mass, as multiple nodules, or as diffuse liver involvement. Microscopically, there is a wide range of differentiation from tumor to tumor (well differentiated to poorly differentiated tumors). Hepatocellular carcinomas quickly metastasize to regional lymph nodes and lung. The overall median survival of untreated liver cell carcinoma is about 4 months. The most effective treatment of hepatocellular carcinoma is complete resection of the tumor. Lately, an increasing number of tumors have been treated with liver transplantation." }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "HCC", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "cancer, hepatocellular", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "carcinoma of liver", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "carcinoma of liver cells", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "carcinoma of the liver cells", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "carcinoma, hepatocellular, malignant", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatoblastoma, somatic", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatocellular adenocarcinoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatocellular cancer", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatocellular cancer, somatic", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatocellular carcinoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatocellular carcinoma, childhood type, somatic", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatocellular carcinoma, somatic", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "liver carcinoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "liver cell cancer (hepatocellular carcinoma)", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "liver cell carcinoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "primary carcinoma of liver cells", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "primary carcinoma of the liver cells", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "adult hepatoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "adult primary hepatocellular carcinoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatoblastoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatoblastoma caused by somatic mutation", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "liver and intrahepatic bile duct carcinoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "liver cancer", "description": "" }, { "id": "MIM:114550", "resource": "MIM", "url": "https://www.omim.org/entry/114550", "name": "Hepatocellular carcinoma", "description": "Hepatocellular carcinoma" } ], "evidence": [ { "id": "684", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:684" } ] }, { "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": "" 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CANONICAL=A0A6H2EEY2-1" }, "locus": { "chromosome": "3R", "start_pos": 17069132, "end_pos": 17057711, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "FBtr0083393", "url": "https://www.ensembl.org/id/FBtr0083393" }, { "database": "Ensembl Peptide", "id": "FBpp0082834", "url": "https://www.ensembl.org/id/FBpp0082834" } ] } } ], "glycosylation": [], "phosphorylation": [], "glycation": [], "keywords": [], "publication": [], "pathway": [ { "id": "dme:Dmel_CG5201", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+dme:Dmel_CG5201", "resource": "KEGG Pathway" }, { "id": "R-DME-201451", "name": "Signaling by BMP", "url": "https://www.reactome.org/PathwayBrowser/#R-DME-201451", "resource": "Reactome", "description": "Signaling by BMP" }, { "id": "R-DME-2173788", "name": "Downregulation of TGF-beta receptor signaling", "url": "https://www.reactome.org/PathwayBrowser/#R-DME-2173788", "resource": "Reactome", "description": "Downregulation of TGF-beta 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