{ "uniprot_canonical_ac": "P49001-1", "uniprot_ac": "P49001", "uniprot_id": "BMP2_RAT", "mass": { "chemical_mass": 44383.0, "monoisotopic_mass": 44383.0 }, "refseq": { "ac": "NP_058874", "name": "bone morphogenetic protein 2 precursor", "summary": "", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_058874" }, "gene_names": [ { "name": "Bmp2", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P49001", "id": "P49001" }, { "name": "Bmp-2", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P49001", "id": "P49001" }, { "name": "Bmp2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_058874", "id": "NP_058874" } ], "protein_names": [ { "name": "Bone morphogenetic protein 2", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "P49001" }, { "name": "BMP-2; BMP-2A; bone morphogenetic protein 2A", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_058874", "id": "NP_058874" }, { "name": "BMP-2A", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P49001" }, { "name": "BMP-2", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P49001" }, { "name": "Bone morphogenetic protein 2A", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P49001" }, { "name": "bone morphogenetic protein 2 precursor", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_058874", "id": "NP_058874" } ], "function": [ { "annotation": "Enhanced Bone Regeneration by Bone Morphogenetic Protein-2 after Pretreatment with Low-Intensity Pulsed Ultrasound in Distraction Osteogenesis.", "evidence": [ { "database": "RefSeq", "id": "NP_058874", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_058874" }, { "database": "PubMed", "id": "35594008", "url": "https://glygen.org/publication/PubMed/35594008" } ] }, { "annotation": "Growth factor of the TGF-beta superfamily that plays essential roles in many developmental processes, including cardiogenesis, neurogenesis, and osteogenesis. Induces cartilage and bone formation. Initiates the canonical BMP signaling cascade by associating with type I receptor BMPR1A and type II receptor BMPR2. Once all three components are bound together in a complex at the cell surface, BMPR2 phosphorylates and activates BMPR1A. In turn, BMPR1A propagates signal by phosphorylating SMAD1/5/8 that travel to the nucleus and act as activators and repressors of transcription of target genes. Also acts to promote expression of HAMP, via the interaction with its receptor BMPR1A/ALK3 (By similarity). Can also signal through non-canonical pathways such as ERK/MAP kinase signaling cascade that regulates osteoblast differentiation. Stimulates also the differentiation of myoblasts into osteoblasts via the EIF2AK3-EIF2A-ATF4 pathway by stimulating EIF2A phosphorylation which leads to increased expression of ATF4 which plays a central role in osteoblast differentiation.", "evidence": [ { "database": "UniProtKB", "id": "P49001", "url": "https://www.uniprot.org/uniprot/P49001#function" }, { "database": "UniProtKB", "id": "P21274", "url": "https://www.uniprot.org/uniprot/P21274#function" }, { "database": "UniProtKB", "id": "P12643", "url": "https://www.uniprot.org/uniprot/P12643#function" } ] }, { "annotation": "H3K27me3-modulated Hofbauer cell BMP2 signalling enhancement compensates for shallow trophoblast invasion in preeclampsia.", "evidence": [ { "database": "RefSeq", "id": "NP_058874", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_058874" }, { "database": "PubMed", "id": "37331163", "url": "https://glygen.org/publication/PubMed/37331163" } ] }, { "annotation": "Imbalance in Bone Morphogenic Proteins 2 and 7 Is Associated with Renal and Cardiovascular Damage in Chronic Kidney Disease. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_058874", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_058874" }, { "database": "PubMed", "id": "36613483", "url": "https://glygen.org/publication/PubMed/36613483" } ] }, { "annotation": "Sustained release of BMP-2 using self-assembled layer-by-layer film-coated implants enhances bone regeneration over burst release.", "evidence": [ { "database": "RefSeq", "id": "NP_058874", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_058874" }, { "database": "PubMed", "id": "35981926", "url": "https://glygen.org/publication/PubMed/35981926" } ] }, { "annotation": "The impact of IGF-1 on alveolar bone remodeling and BMP-2 expression in orthodontic tooth movement in diabetic rats.", "evidence": [ { "database": "RefSeq", "id": "NP_058874", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_058874" }, { "database": "PubMed", "id": "36421043", "url": "https://glygen.org/publication/PubMed/36421043" } ] } ], "disease": [ { "disease_id": "DOID:0050591", "recommended_name": { "id": "DOID:0050591", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050591", "name": "tooth agenesis", "description": "A tooth disease characterized by failure to develop one or more missing teeth." }, "synonyms": [ { "id": "DOID:0050591", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050591", "name": "familial tooth agenesis", "description": "" }, { "id": "DOID:0050591", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050591", "name": "hypodontia", "description": "" }, { "id": "DOID:0050591", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050591", "name": "oligodontia", "description": "" }, { "id": "DOID:0050591", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050591", "name": "selective tooth agenesis", "description": "" }, { "id": "MONDO:0010741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010741", "name": "tooth agenesis, selective, X-linked, 1", "description": "Any tooth agenesis in which the cause of the disease is a mutation in the EDA gene." }, { "id": "MONDO:0010741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010741", "name": "EDA tooth agenesis", "description": "" }, { "id": "MONDO:0010741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010741", "name": "tooth agenesis caused by mutation in EDA", "description": "" }, { "id": "MONDO:0010741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010741", "name": "tooth agenesis, selective, X-linked 1, X-linked dominant", "description": "" }, { "id": "MONDO:0010741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010741", "name": "tooth agenesis, selective, X-linked, 1", "description": "" }, { "id": "MONDO:0010741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010741", "name": "tooth agenesis, selective, X-linked, type 1", "description": "" }, { "id": "MONDO:0010741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010741", "name": "STHAGX1", "description": "" }, { "id": "MONDO:0010741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010741", "name": "hypodontia/oligodontia, X-linked, 1", "description": "" }, { "id": "MONDO:0007881", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007881", "name": "tooth agenesis, selective, 4", "description": "Any tooth agenesis in which the cause of the disease is a mutation in the WNT10A gene." }, { "id": "MONDO:0007881", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007881", "name": "WNT10A tooth agenesis", "description": "" }, { "id": "MONDO:0007881", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007881", "name": "tooth agenesis caused by mutation in WNT10A", "description": "" }, { "id": "MONDO:0007881", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007881", "name": "tooth agenesis, selective, 4", "description": "" }, { "id": "MONDO:0007881", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007881", "name": "tooth agenesis, selective, type 4", "description": "" }, { "id": "MONDO:0007881", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007881", "name": "STHAG4", "description": "" }, { "id": "MONDO:0007881", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007881", "name": "lateral incisors, absence of", "description": "" }, { "id": "MONDO:0007881", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007881", "name": "lateral incisors, pegged or missing", "description": "" }, { "id": "MONDO:0007881", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007881", "name": "succedaneous teeth, agenesis of", "description": "" }, { "id": "MONDO:0007881", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007881", "name": "tooth agenesis, selective, 4, with or without ectodermal dysplasia", "description": "" }, { "id": "MONDO:0011477", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011477", "name": "tooth agenesis, selective, 3", "description": "Any tooth agenesis in which the cause of the disease is a mutation in the PAX9 gene." }, { "id": "MONDO:0011477", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011477", "name": "PAX9 tooth agenesis", "description": "" }, { "id": "MONDO:0011477", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011477", "name": "tooth agenesis caused by mutation in PAX9", "description": "" }, { "id": "MONDO:0011477", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011477", "name": "tooth agenesis, selective, 3", "description": "" }, { "id": "MONDO:0011477", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011477", "name": "tooth agenesis, selective, type 3", "description": "" }, { "id": "MONDO:0011477", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011477", "name": "STHAG3", "description": "" }, { "id": "MONDO:0011477", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011477", "name": "hypodontia/oligodontia 3", "description": "" }, { "id": "MONDO:0011265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011265", "name": "tooth agenesis, selective, 2", "description": "" }, { "id": "MONDO:0011265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011265", "name": "STHAG2", "description": "" }, { "id": "MONDO:0011265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011265", "name": "tooth agenesis, selective, 2", "description": "" }, { "id": "MONDO:0011265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011265", "name": "hypodontia/oligodontia 2", "description": "" }, { "id": "MONDO:0012583", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012583", "name": "tooth agenesis, selective, 5", "description": "" }, { "id": "MONDO:0012583", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012583", "name": "STHAG5", "description": "" }, { "id": "MONDO:0012583", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012583", "name": "tooth agenesis, selective, 5", "description": "" }, { "id": "MONDO:0012583", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012583", "name": "he-Zhao deficiency", "description": "" }, { "id": "MONDO:0012583", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012583", "name": "hypodontia/oligodontia 5", "description": "" }, { "id": "MONDO:0007129", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007129", "name": "tooth agenesis, selective, 1", "description": "Any tooth agenesis in which the cause of the disease is a mutation in the MSX1 gene." }, { "id": "MONDO:0007129", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007129", "name": "MSX1 tooth agenesis", "description": "" }, { "id": "MONDO:0007129", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007129", "name": "tooth agenesis caused by mutation in MSX1", "description": "" }, { "id": "MONDO:0007129", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007129", "name": "tooth agenesis, selective, 1", "description": "" }, { "id": "MONDO:0007129", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007129", "name": "tooth agenesis, selective, 1, with or without orofacial cleft", "description": "" }, { "id": "MONDO:0007129", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007129", "name": "tooth agenesis, selective, type 1", "description": "" }, { "id": "MONDO:0007129", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007129", "name": "STHAG1", "description": "" }, { "id": "MONDO:0007129", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007129", "name": "hypodontia/oligodontia 1", "description": "" }, { "id": "MONDO:0007129", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007129", "name": "hypodontia/oligodontia with orofacial cleft", "description": "" }, { "id": "MONDO:0007129", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007129", "name": "second premolars and third molars, absence of", "description": "" }, { "id": "MONDO:0007129", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007129", "name": "tooth agenesis, familial", "description": "" }, { "id": "MONDO:0007129", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007129", "name": "tooth agenesis, selective, with orofacial cleft", "description": "" }, { "id": "MIM:313500", "resource": "MIM", "url": "https://www.omim.org/entry/313500", "name": "Tooth agenesis, selective, X-linked, 1", "description": "Tooth agenesis, selective, X-linked, 1" }, { "id": "MIM:150400", "resource": "MIM", "url": "https://www.omim.org/entry/150400", "name": "Tooth agenesis, selective, 4", "description": "Tooth agenesis, selective, 4" }, { "id": "MIM:604625", "resource": "MIM", "url": "https://www.omim.org/entry/604625", "name": "Tooth agenesis, selective, 3", "description": "Tooth agenesis, selective, 3" }, { "id": "MIM:106600", "resource": "MIM", "url": "https://www.omim.org/entry/106600", "name": "Tooth agenesis, selective, 1", "description": "Tooth agenesis, selective, 1" } ], "evidence": [ { "id": "0050591", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0050591" } ] }, { "disease_id": "DOID:0050787", "recommended_name": { "id": "DOID:0050787", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050787", "name": "juvenile polyposis syndrome", "description": "A gastrointestinal system disease that is characterized by predisposition to hamartomatous benign polyps in the gastrointestinal tract, specifically in the stomach, small intestine, colon, and rectum." }, "synonyms": [ { "id": "MONDO:0017380", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0017380", "name": "juvenile polyposis syndrome", "description": "Juvenile gastrointestinal polyposis (JIP) is a rare condition characterized by the presence of juvenile hamartomatous polyps in the gastrointestinal (GI) tract." }, { "id": "MONDO:0017380", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0017380", "name": "JIP", "description": "" }, { "id": "MONDO:0017380", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0017380", "name": "jPS", "description": "" }, { "id": "MONDO:0017380", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0017380", "name": "juvenile gastrointestinal polyposis", "description": "" }, { "id": "MONDO:0017380", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0017380", "name": "juvenile intestinal polyposis", "description": "" }, { "id": "MONDO:0017380", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0017380", "name": "juvenile multiple polyps syndrome", "description": "" }, { "id": "MONDO:0017380", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0017380", "name": "juvenile polyposis", "description": "" }, { "id": "MONDO:0017380", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0017380", "name": "juvenile polyposis syndrome", "description": "" }, { "id": "MONDO:0017380", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0017380", "name": "polyposis, juvenile intestinal", "description": "" }, { "id": "MONDO:0017380", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0017380", "name": "PJI", "description": "" }, { "id": "MONDO:0017380", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0017380", "name": "polyposis familial of entire gastrointestinal tract", "description": "" }, { "id": "MONDO:0017380", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0017380", "name": "polyposis juvenile intestinal", "description": "" }, { "id": "MIM:174900", "resource": "MIM", "url": "https://www.omim.org/entry/174900", "name": "Juvenile polyposis syndrome", "description": "Juvenile polyposis syndrome" } ], "evidence": [ { "id": "0050787", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0050787" } ] }, { "disease_id": "DOID:0110965", "recommended_name": { "id": "DOID:0110965", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110965", "name": "brachydactyly type A2", "description": "A brachydactyly characterized by autosomal dominant inheritance of malformations of the middle phalanx of the index finger and anomalies of the second toe that has_material_basis_in heterozygous mutation in the BMPR1B gene on chromosome 4q or in the GDF5 gene on chromosome 20q11 or heterozygous duplication in a regulatory element of BMP2 on chromosome 20p12." }, "synonyms": [ { "id": "DOID:0110965", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110965", "name": "BDA2", "description": "" }, { "id": "DOID:0110965", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110965", "name": "Mohr-Wriedt type brachydactyly", "description": "" }, { "id": "DOID:0110965", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110965", "name": "brachymesophalangy II", "description": "" }, { "id": "MONDO:0007216", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007216", "name": "brachydactyly type A2", "description": "Brachydactyly type A2 (BDA2) is a congenital malformation characterized by shortening (hypoplasia or aplasia) of the middle phalanges of the index finger and, sometimes, of the little finger." }, { "id": "MONDO:0007216", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007216", "name": "BDA2", "description": "" }, { "id": "MONDO:0007216", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007216", "name": "Mohr-Wriedt type brachydactyly", "description": "" }, { "id": "MONDO:0007216", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007216", "name": "brachydactyly, Mohr-Wriedt type", "description": "" }, { "id": "MONDO:0007216", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007216", "name": "brachymesophalangy II", "description": "" }, { "id": "MONDO:0007216", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007216", "name": "Brachymesophalangy 2", "description": "" }, { "id": "MONDO:0007216", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007216", "name": "Brachymesophalangy type 2", "description": "" }, { "id": "MONDO:0007216", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007216", "name": "brachydactyly, type A2", "description": "" }, { "id": "MIM:112600", "resource": "MIM", "url": "https://www.omim.org/entry/112600", "name": "Brachydactyly A2", "description": "Brachydactyly A2" } ], "evidence": [ { "id": "0110965", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0110965" } ] }, { "disease_id": "DOID:0111029", "recommended_name": { "id": "DOID:0111029", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111029", "name": "hemochromatosis type 1", "description": "A hemochromatosis that has_material_basis_in homozygous or compound heterozygous mutation in the HFE gene on chromosome 6p22." }, "synonyms": [ { "id": "DOID:0111029", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111029", "name": "HFE1", "description": "" }, { "id": "DOID:0111029", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111029", "name": "symptomatic form of classic hemochromatosis", "description": "" }, { "id": "DOID:0111029", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111029", "name": "symptomatic form of hemochromatosis type 1", "description": "" }, { "id": "DOID:0111029", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111029", "name": "symptomatic form of HFE-related hereditary hemochromatosis", "description": "" }, { "id": "MONDO:0021001", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021001", "name": "hemochromatosis type 1", "description": "Hemochromatosis type 1 (classic) is the most common form of hereditary hemochromatosis (HH), a group of diseases characterized by excessive tissue iron deposition. Due to its incidence (1/200-1/1000), it is not considered as a rare disease, unlike the other subforms of the disease" }, { "id": "MONDO:0021001", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021001", "name": "C282Y/C282Y hemochromatosis", "description": "" }, { "id": "MONDO:0021001", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021001", "name": "HFE-associated hereditary hemochromatosis", "description": "" }, { "id": "MONDO:0021001", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021001", "name": "HFE-related hemochromatosis", "description": "" }, { "id": "MONDO:0021001", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021001", "name": "HFE1", "description": "" }, { "id": "MONDO:0021001", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021001", "name": "classic hemochromatosis", "description": "" }, { "id": "MONDO:0021001", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021001", "name": "hemochromatosis", "description": "" }, { "id": "MONDO:0021001", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021001", "name": "hemochromatosis type 1", "description": "" }, { "id": "MONDO:0021001", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021001", "name": "hemochromatosis, type 1", "description": "" }, { "id": "MONDO:0021001", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021001", "name": "hfe hemochromatosis, modifier of", "description": "" }, { "id": "MONDO:0021001", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021001", "name": "symptomatic form of hemochromatosis type 1", "description": "" }, { "id": "MONDO:0021001", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021001", "name": "symptomatic form of HFE-related hereditary hemochromatosis", "description": "" }, { "id": "MONDO:0021001", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021001", "name": "symptomatic form of classic hemochromatosis", "description": "" }, { "id": "MIM:235200", "resource": "MIM", "url": "https://www.omim.org/entry/235200", "name": "Hemochromatosis 1", "description": "Hemochromatosis 1" } ], "evidence": [ { "id": "0111029", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0111029" } ] }, { "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:10286", "recommended_name": { "id": "DOID:10286", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10286", "name": "prostate carcinoma", "description": "A prostate cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells." }, "synonyms": [ { "id": "DOID:10286", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10286", "name": "cancer of prostate", "description": "" }, { "id": "DOID:10286", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10286", "name": "carcinoma of prostate", "description": "" } ], "evidence": [ { "id": "10286", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:10286" } ] }, { "disease_id": "DOID:10763", "recommended_name": { "id": "DOID:10763", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10763", "name": "hypertension", "description": "An artery disease characterized by chronic elevated blood pressure in the arteries." }, "synonyms": [ { "id": "DOID:10763", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10763", "name": "HTN", "description": "" }, { "id": "DOID:10763", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10763", "name": "hyperpiesia", "description": "" }, { "id": "DOID:10763", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10763", "name": "vascular hypertensive disorder", "description": "" } ], "evidence": [ { "id": "10763", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:10763" } ] }, { "disease_id": "DOID:11476", "recommended_name": { "id": "DOID:11476", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11476", "name": "osteoporosis", "description": "A bone resorption disease characterized by decreased density of normally mineralized bone which results_in the thinning of bone tissue and decreased mechanical strength." }, "synonyms": [ { "id": "MONDO:0005298", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005298", "name": "osteoporosis", "description": "A condition of reduced bone mass, with decreased cortical thickness and a decrease in the number and size of the trabeculae of cancellous bone (but normal chemical composition), resulting in increased fracture incidence. Osteoporosis is classified as primary (Type 1, postmenopausal osteoporosis; Type 2, age-associated osteoporosis; and idiopathic, which can affect juveniles, premenopausal women, and middle-aged men) and secondary osteoporosis (which results from an identifiable cause of bone mass loss)." }, { "id": "MONDO:0005298", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005298", "name": "bone mineral density variation QTL, osteoporosis", "description": "" }, { "id": "MONDO:0005298", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005298", "name": "osteoporosis, postmenopausal", "description": "" }, { "id": "MONDO:0005298", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005298", "name": "osteoporosis, postmenopausal, susceptibility", "description": "" }, { "id": "MONDO:0005298", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005298", "name": "osteoporosis, susceptibility to", "description": "" }, { "id": "MONDO:0005298", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005298", "name": "fracture, hip, susceptibility to", "description": "" }, { "id": "MONDO:0005298", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005298", "name": "osteoporosis, involutional", "description": "" }, { "id": "MIM:166710", "resource": "MIM", "url": "https://www.omim.org/entry/166710", "name": "Osteoporosis", "description": "Osteoporosis" } ], "evidence": [ { "id": "11476", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:11476" } ] }, { "disease_id": "DOID:12185", "recommended_name": { "id": "DOID:12185", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12185", "name": "otosclerosis", "description": "An otitis interna characterized by isolated endochondral bone sclerosis of the labyrinthine capsule." }, "synonyms": [ { "id": "MONDO:0008164", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008164", "name": "otosclerosis 1", "description": "" }, { "id": "MONDO:0008164", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008164", "name": "OTSC1", "description": "" }, { "id": "MONDO:0008164", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008164", "name": "otosclerosis 1", "description": "" }, { "id": "MONDO:0008164", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008164", "name": "OTS", "description": "" } ], "evidence": [ { "id": "12185", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:12185" } ] }, { "disease_id": "DOID:14323", "recommended_name": { "id": "DOID:14323", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14323", "name": "Marfan syndrome", "description": "A connective tissue disease that is characterized by tall stature, elongated extremities, mitral valve prolapse, aortic dilatation, aortic dissection, and subluxation of the lens." }, "synonyms": [ { "id": "DOID:14323", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14323", "name": "Marfan's syndrome", "description": "" }, { "id": "MONDO:0007947", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007947", "name": "Marfan syndrome", "description": "A disorder of the connective tissue. Connective tissue provides strength and flexibility to structures throughout the body such as bones, ligaments, muscles, walls of blood vessels, and heart valves. Marfan syndrome affects most organs and tissues, especially the skeleton, lungs, eyes, heart, and the large blood vessel that distributes blood from the heart to the rest of the body (the aorta). It is caused by mutations in the FBN1 gene, which provides instructions for making a protein called fibrillin-1. Marfan syndrome is inherited in an autosomal dominant pattern. At least 25% of cases are due to a new (de novo) mutation. Treatment is based on the signs and symptoms in each person." }, { "id": "MONDO:0007947", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007947", "name": "MFS", "description": "" }, { "id": "MONDO:0007947", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007947", "name": "MFS1", "description": "" }, { "id": "MONDO:0007947", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007947", "name": "Marfan syndrome", "description": "" }, { "id": "MONDO:0007947", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007947", "name": "Marfan syndrome type 1", "description": "" }, { "id": "MONDO:0007947", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007947", "name": "Marfan syndrome, type 1", "description": "" }, { "id": "MONDO:0007947", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007947", "name": "Marfan's syndrome", "description": "" }, { "id": "MIM:154700", "resource": "MIM", "url": "https://www.omim.org/entry/154700", "name": "Marfan syndrome", "description": "Marfan syndrome" } ], "evidence": [ { "id": "14323", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:14323" } ] }, { "disease_id": "DOID:8398", "recommended_name": { "id": "DOID:8398", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8398", "name": "osteoarthritis", "description": "An arthritis that has_material_basis_in worn out cartilage located_in joint." }, "synonyms": [ { "id": "DOID:8398", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8398", "name": "Osteoarthrosis and allied disorder", "description": "" }, { "id": "DOID:8398", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8398", "name": "degenerative arthritis", "description": "" }, { "id": "DOID:8398", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8398", "name": "degenerative joint disease", "description": "" }, { "id": "DOID:8398", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8398", "name": "hypertrophic arthritis", "description": "" }, { "id": "DOID:8398", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8398", "name": "osteoarthrosis", "description": "" } ], "evidence": [ { "id": "8398", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:8398" } ] } ], "snv": [], "mutagenesis": [], "expression_tissue": [], "expression_disease": [], "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "evidence": [ { "database": "UniProtKB", "id": "P49001", "url": "https://www.uniprot.org/uniprot/P49001" } ], "common_name": "Rat" } ], "gene": [ { "name": "Bmp2", "url": "https://www.uniprot.org/uniprot/P49001", "locus": { "chromosome": "3", "start_pos": 120821397, "end_pos": 120812882, 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"MVAGTRCLLVLLLPQVLLGGAAGLIPELGRKKFAGASRPLSRPSEDVLSEFELRLLSMFGLKQRPTPSKDVVVPPYMLDLYRRHSGQPGALAPDHRLERAASRANTVLSFHHEEAIEELSEMSGKTSRRFFFNLSSVPTDEFLTSAELQIFREQMQEALGNSSFQHRINIYEIIKPATASSKFPVTRLLDTRLVTQNTSQWESFDVTPAVMRWTAQGHTNHGFVVEVAHLEEKPGVSKRHVRISRSLHQDEHSWSQVRPLLVTFGHDGKGHPLHKREKRQAKHKQRKRLKSSCKRHPLYVDFSDVGWNDWIVAPPGYHAFYCHGECPFPLADHLNSTNHAIVQTLVNSVNSKIPKACCVPTELSAISMLYLDENEKVVLKNYQDMVVEGCGCR", "length": 393, "header": "sp|P49001-1|BMP2_RAT Isoform 1 of Bone morphogenetic protein 2 OS=Rattus norvegicus OX=10116 GN=Bmp2 PE=2 SV=1 CANONICAL=P49001-1" }, "isoforms": [ { "isoform_ac": "G3V8W4-1", "url": "", "sequence": { "sequence": "MVAGTRCLLVLLLPQVLLGGAAGLIPELGRKKFAGASGRPLSRPSDDVLSEFELRLLSMFGLKQRPTPSKDVVVPPYMLDLYRRHSGQPGAPAPDHRLERAASRANTVRSFHHEEAIEELPEMSGKTSRRFFFNLSSVPTDEFLTSAELQIFREQMQEALGNSSFQHRINIYEIIKPATASSKFPVTRLLDTRLVTQNTSQWESFDVTPAVMRWTAQGHTNHGFVVEVAHLEEKPGVSKRHVRISRSLHQDEHSWSQVRPLLVTFGHDGKGHPLHKREKRQAKHKQRKRLKSSCKRHPLYVDFSDVGWNDWIVAPPGYHAFYCHGECPFPLADHLNSTNHAIVQTLVNSVNSKIPKACCVPTELSAISMLYLDENEKVVLKNYQDMVVEGCGCR", "length": 394, "header": "tr|G3V8W4-1|G3V8W4_RAT Computationally mapped isoform of Bone morphogenetic protein 2 OS=Rattus norvegicus OX=10116 GN=Bmp2 PE=3 SV=1 CANONICAL=P49001-1" }, "locus": { "chromosome": "3", "start_pos": 120821382, "end_pos": 120813990, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENSRNOT00000108290.1", "url": "https://www.ensembl.org/id/ENSRNOT00000108290.1" }, { "database": "Ensembl Peptide", "id": "ENSRNOP00000081600.1", "url": "https://www.ensembl.org/id/ENSRNOP00000081600.1" } ] } }, { "isoform_ac": "P49001-1", "url": "", "sequence": { "sequence": "MVAGTRCLLVLLLPQVLLGGAAGLIPELGRKKFAGASRPLSRPSEDVLSEFELRLLSMFGLKQRPTPSKDVVVPPYMLDLYRRHSGQPGALAPDHRLERAASRANTVLSFHHEEAIEELSEMSGKTSRRFFFNLSSVPTDEFLTSAELQIFREQMQEALGNSSFQHRINIYEIIKPATASSKFPVTRLLDTRLVTQNTSQWESFDVTPAVMRWTAQGHTNHGFVVEVAHLEEKPGVSKRHVRISRSLHQDEHSWSQVRPLLVTFGHDGKGHPLHKREKRQAKHKQRKRLKSSCKRHPLYVDFSDVGWNDWIVAPPGYHAFYCHGECPFPLADHLNSTNHAIVQTLVNSVNSKIPKACCVPTELSAISMLYLDENEKVVLKNYQDMVVEGCGCR", "length": 393, "header": "sp|P49001-1|BMP2_RAT Isoform 1 of Bone morphogenetic protein 2 OS=Rattus norvegicus OX=10116 GN=Bmp2 PE=2 SV=1 CANONICAL=P49001-1" }, "locus": {} } ], "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 133, "start_aa": "Asn", "end_pos": 133, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn133", "evidence": [ { "id": "P49001", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P49001#ptm_processing" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 161, "start_aa": "Asn", "end_pos": 161, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn161", "evidence": [ { "id": "P49001", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P49001#ptm_processing" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 197, "start_aa": "Asn", "end_pos": 197, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn197", "evidence": [ { "id": "P49001", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P49001#ptm_processing" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 335, "start_aa": "Asn", "end_pos": 335, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn335", "evidence": [ { "id": "P49001", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P49001#ptm_processing" } ] } ], "phosphorylation": [ { "start_pos": 85, "end_pos": 85, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "P49001", "url": "https://www.uniprot.org/uniprot/P49001" } ], "site_lbl": "Ser85" } ], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_predicted" ], "publication": [ { "title": "Enhanced Bone Regeneration by Bone Morphogenetic Protein-2 after Pretreatment with Low-Intensity Pulsed Ultrasound in Distraction Osteogenesis.", "journal": "Tissue engineering and regenerative medicine", "date": "2022", "authors": "Han JJ, Yang HJ, Hwang SJ", "evidence": [ { "database": "RefSeq", "id": "NP_058874", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_058874" } ], "reference": [ { "type": "PubMed", "id": "35594008", "url": "https://glygen.org/publication/PubMed/35594008" } ] }, { "title": "Sustained release of BMP-2 using self-assembled layer-by-layer film-coated implants enhances bone regeneration over burst release.", "journal": "Biomaterials", "date": "2022", "authors": "Howard MT, Wang S, Berger AG, Martin JR, Jalili-Firoozinezhad S, Padera RF, Hammond PT", "evidence": [ { "database": "RefSeq", "id": "NP_058874", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_058874" } ], "reference": [ { "type": "PubMed", "id": "35981926", "url": "https://glygen.org/publication/PubMed/35981926" } ] }, { "title": "The impact of IGF-1 on alveolar bone remodeling and BMP-2 expression in orthodontic tooth movement in diabetic rats.", "journal": "Advances in clinical and experimental medicine : official organ Wroclaw Medical University", "date": "2022-11-24", "authors": "Wang Mengxi, Qiu Yanfen, Gao Lili, Qi Feng, Bi Liangjia", "evidence": [ { "database": "RefSeq", "id": "NP_058874", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_058874" } ], "reference": [ { "type": "PubMed", "id": "36421043", "url": "https://glygen.org/publication/PubMed/36421043" } ] }, { "title": "Imbalance in Bone Morphogenic Proteins 2 and 7 Is Associated with Renal and Cardiovascular Damage in Chronic Kidney Disease.", "journal": "International journal of molecular sciences", "date": "2022-12-20", "authors": "Manzano-Lista Francisco Javier, Sanz-G\u00f3mez Marta, Gonz\u00e1lez-Moreno Daniel, Vega-Mart\u00edn Elena, Gil-Ortega Marta, Schulz Angela, Rubio Miguel \u00c1ngel, Ruiz-Hurtado Gema, Ruilope Luis Miguel, Ar\u00e1nguez Isabel, Kreutz Reinhold, Fern\u00e1ndez-Alfonso Mar\u00eda S", "evidence": [ { "database": "RefSeq", "id": "NP_058874", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_058874" } ], "reference": [ { "type": "PubMed", "id": "36613483", "url": "https://glygen.org/publication/PubMed/36613483" } ] }, { "title": "H3K27me3-modulated Hofbauer cell BMP2 signalling enhancement compensates for shallow trophoblast invasion in preeclampsia.", "journal": "EBioMedicine", "date": "2023-07", "authors": "Deng Jianye, Zhao Hong-Jin, Zhong Ying, Hu Cuiping, Meng Jinlai, Wang Chunling, Lan Xiangxin, Wang Xiyao, Chen Zi-Jiang, Yan Junhao, Wang Wei, Li Yan", "evidence": [ { "database": "RefSeq", "id": "NP_058874", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_058874" } ], "reference": [ { "type": "PubMed", "id": "37331163", "url": "https://glygen.org/publication/PubMed/37331163" } ] } ], "pathway": [ { "id": "rno:29373", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+rno:29373", "resource": "KEGG Pathway" }, { "id": "R-RNO-201451", "name": "Signaling by BMP", "url": "https://www.reactome.org/PathwayBrowser/#R-RNO-201451", "resource": "Reactome", "description": "Signaling by BMP" }, { "id": "R-RNO-2129379", "name": 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"https://www.uniprot.org/uniprot/P49001" } ], "pmid": "" }, { "name": "heart development", "id": "GO:0007507", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007507", "evidence": [ { "database": "UniProtKB", "id": "P49001", "url": "https://www.uniprot.org/uniprot/P49001" } ], "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": "P49001", "url": "https://www.uniprot.org/uniprot/P49001" } ], "pmid": "" }, { "name": "negative regulation of cell population proliferation", "id": "GO:0008285", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008285", "evidence": [ { "database": "UniProtKB", "id": "P49001", "url": "https://www.uniprot.org/uniprot/P49001" } ], "pmid": "" }, { "name": "positive regulation of gene expression", "id": "GO:0010628", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010628", "evidence": [ { "database": "UniProtKB", "id": "P49001", "url": "https://www.uniprot.org/uniprot/P49001" } ], "pmid": "" }, { "name": "negative regulation of gene expression", "id": "GO:0010629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010629", "evidence": [ { "database": "UniProtKB", "id": "P49001", "url": "https://www.uniprot.org/uniprot/P49001" } ], "pmid": "" }, { "name": "positive regulation of cell migration", "id": "GO:0030335", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030335", "evidence": [ { "database": "UniProtKB", "id": "P49001", "url": "https://www.uniprot.org/uniprot/P49001" } ], "pmid": "" }, { "name": "positive regulation of protein binding", "id": "GO:0032092", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032092", "evidence": [ { "database": "UniProtKB", "id": "P49001", "url": "https://www.uniprot.org/uniprot/P49001" } ], "pmid": "" }, { "name": "positive regulation of apoptotic process", "id": "GO:0043065", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043065", "evidence": [ { "database": "UniProtKB", "id": "P49001", "url": "https://www.uniprot.org/uniprot/P49001" } ], "pmid": "" }, { "name": "positive regulation of MAPK cascade", "id": "GO:0043410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043410", "evidence": [ { "database": "UniProtKB", "id": "P49001", "url": "https://www.uniprot.org/uniprot/P49001" } ], "pmid": "" }, { "name": "positive regulation of fat cell differentiation", "id": "GO:0045600", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045600", "evidence": [ { "database": "UniProtKB", "id": "P49001", "url": "https://www.uniprot.org/uniprot/P49001" } ], "pmid": "" }, { "name": "positive regulation of neuron differentiation", "id": "GO:0045666", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045666", "evidence": [ { "database": "UniProtKB", "id": "P49001", "url": "https://www.uniprot.org/uniprot/P49001" } ], "pmid": "" }, { "name": "positive regulation of transcription by RNA polymerase II", "id": "GO:0045944", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045944", "evidence": [ { "database": "UniProtKB", "id": "P49001", "url": "https://www.uniprot.org/uniprot/P49001" } ], "pmid": "" }, { "name": "positive regulation of DNA-binding transcription factor activity", "id": "GO:0051091", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051091", "evidence": [ { "database": "UniProtKB", "id": "P49001", "url": "https://www.uniprot.org/uniprot/P49001" } ], "pmid": "" }, { "name": "positive regulation of ERK1 and ERK2 cascade", "id": "GO:0070374", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070374", "evidence": [ { "database": "UniProtKB", "id": "P49001", "url": "https://www.uniprot.org/uniprot/P49001" } ], "pmid": "" }, { "name": "negative regulation of canonical Wnt signaling pathway", "id": "GO:0090090", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090090", "evidence": [ { "database": "UniProtKB", "id": "P49001", "url": "https://www.uniprot.org/uniprot/P49001" } ], "pmid": "" }, { "name": "response to hypoxia", "id": "GO:0001666", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001666", "evidence": [ { "database": "UniProtKB", "id": "P49001", "url": "https://www.uniprot.org/uniprot/P49001" } ], "pmid": "" }, { "name": "regulation of DNA-templated transcription", "id": "GO:0006355", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006355", "evidence": [ { "database": "UniProtKB", "id": "P49001", "url": "https://www.uniprot.org/uniprot/P49001" } ], "pmid": "" }, { "name": "negative regulation of DNA-templated transcription", "id": "GO:0045892", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045892", "evidence": [ { "database": "UniProtKB", "id": "P49001", "url": "https://www.uniprot.org/uniprot/P49001" } ], "pmid": "" }, { "name": "response to bacterium", "id": "GO:0009617", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009617", "evidence": [ { "database": "UniProtKB", "id": "P49001", "url": "https://www.uniprot.org/uniprot/P49001" } ], "pmid": "" }, { "name": "response to mechanical stimulus", "id": "GO:0009612", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009612", "evidence": [ { "database": "UniProtKB", "id": "P49001", "url": "https://www.uniprot.org/uniprot/P49001" } ], "pmid": "" }, { "name": "response to retinoic acid", "id": "GO:0032526", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032526", "evidence": [ { "database": "UniProtKB", "id": "P49001", "url": "https://www.uniprot.org/uniprot/P49001" } ], "pmid": "" }, { "name": "positive regulation of DNA-templated transcription", "id": "GO:0045893", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045893", "evidence": [ { "database": "UniProtKB", "id": "P49001", "url": "https://www.uniprot.org/uniprot/P49001" } ], "pmid": "" }, { "name": "cellular response to growth factor stimulus", "id": "GO:0071363", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071363", "evidence": [ { "database": "UniProtKB", "id": "P49001", "url": "https://www.uniprot.org/uniprot/P49001" } ], "pmid": "" }, { "name": "positive regulation of endothelial cell proliferation", "id": "GO:0001938", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001938", "evidence": [ { "database": "UniProtKB", "id": "P49001", "url": "https://www.uniprot.org/uniprot/P49001" } ], "pmid": "" }, { "name": "animal organ morphogenesis", "id": "GO:0009887", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009887", "evidence": [ { "database": "UniProtKB", "id": "P49001", "url": "https://www.uniprot.org/uniprot/P49001" } ], "pmid": "" }, { "name": "BMP signaling pathway", "id": "GO:0030509", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030509", "evidence": [ { "database": "UniProtKB", "id": "P49001", "url": "https://www.uniprot.org/uniprot/P49001" } ], "pmid": "" }, { "name": "positive regulation of osteoblast proliferation", "id": "GO:0033690", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033690", "evidence": [ { "database": "UniProtKB", "id": "P49001", "url": "https://www.uniprot.org/uniprot/P49001" } ], "pmid": "" }, { "name": "cardiac muscle tissue morphogenesis", "id": "GO:0055008", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055008", "evidence": [ { "database": "UniProtKB", "id": "P49001", "url": "https://www.uniprot.org/uniprot/P49001" } ], "pmid": "" }, { "name": "SMAD protein signal transduction", "id": "GO:0060395", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060395", "evidence": [ { "database": "UniProtKB", "id": "P49001", "url": "https://www.uniprot.org/uniprot/P49001" } ], "pmid": "" }, { "name": "Wnt signaling pathway", "id": "GO:0016055", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016055", "evidence": [ { "database": "UniProtKB", "id": "P49001", "url": "https://www.uniprot.org/uniprot/P49001" } ], "pmid": "" }, { "name": "positive regulation of bone mineralization", "id": "GO:0030501", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030501", "evidence": [ { "database": "UniProtKB", "id": "P49001", "url": "https://www.uniprot.org/uniprot/P49001" } ], "pmid": "" }, { "name": "transcription by RNA polymerase II", "id": "GO:0006366", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006366", "evidence": [ { "database": "UniProtKB", "id": "P49001", "url": "https://www.uniprot.org/uniprot/P49001" } ], "pmid": "" }, { "name": "endocardial cushion morphogenesis", "id": "GO:0003203", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003203", "evidence": [ { "database": "UniProtKB", "id": "P49001", "url": "https://www.uniprot.org/uniprot/P49001" } ], "pmid": "" }, { "name": "positive regulation of pathway-restricted SMAD protein phosphorylation", "id": "GO:0010862", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010862", "evidence": [ { "database": "UniProtKB", "id": "P49001", "url": "https://www.uniprot.org/uniprot/P49001" } ], "pmid": "" }, { "name": "cellular response to BMP stimulus", "id": "GO:0071773", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071773", "evidence": [ { "database": "UniProtKB", "id": "P49001", "url": "https://www.uniprot.org/uniprot/P49001" } ], "pmid": "" }, { "name": "odontogenesis of dentin-containing tooth", "id": "GO:0042475", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042475", "evidence": [ { "database": "UniProtKB", "id": "P49001", "url": "https://www.uniprot.org/uniprot/P49001" } ], "pmid": "" }, { "name": "negative regulation of smooth muscle cell proliferation", "id": "GO:0048662", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048662", "evidence": [ { "database": "UniProtKB", "id": "P49001", "url": "https://www.uniprot.org/uniprot/P49001" } ], "pmid": "" }, { "name": "bone development", "id": "GO:0060348", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060348", "evidence": [ { "database": "UniProtKB", "id": "P49001", "url": "https://www.uniprot.org/uniprot/P49001" } ], "pmid": "" }, { "name": "cellular response to mechanical stimulus", "id": "GO:0071260", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071260", "evidence": [ { "database": "UniProtKB", "id": "P49001", "url": "https://www.uniprot.org/uniprot/P49001" } ], "pmid": "" }, { "name": "positive regulation of p38MAPK cascade", "id": "GO:1900745", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1900745", "evidence": [ { "database": "UniProtKB", "id": "P49001", "url": "https://www.uniprot.org/uniprot/P49001" } ], "pmid": "" }, { "name": "atrioventricular valve morphogenesis", "id": "GO:0003181", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003181", "evidence": [ { "database": "UniProtKB", "id": "P49001", "url": "https://www.uniprot.org/uniprot/P49001" } ], "pmid": "" }, { "name": "positive regulation of osteoblast differentiation", "id": "GO:0045669", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045669", "evidence": [ { "database": "UniProtKB", "id": "P49001", "url": "https://www.uniprot.org/uniprot/P49001" } ], "pmid": "" }, { "name": "cardiac muscle cell differentiation", "id": "GO:0055007", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055007", "evidence": [ { "database": "UniProtKB", "id": "P49001", "url": "https://www.uniprot.org/uniprot/P49001" } ], "pmid": "" }, { "name": "pathway-restricted SMAD protein phosphorylation", "id": "GO:0060389", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060389", "evidence": [ { "database": "UniProtKB", "id": "P49001", "url": "https://www.uniprot.org/uniprot/P49001" } ], "pmid": "" }, { "name": "BMP signaling pathway involved in heart development", "id": "GO:0061312", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061312", "evidence": [ { "database": "UniProtKB", "id": "P49001", "url": "https://www.uniprot.org/uniprot/P49001" } ], "pmid": "" }, { "name": "osteoblast differentiation", "id": "GO:0001649", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001649", "evidence": [ { "database": "UniProtKB", "id": "P49001", "url": "https://www.uniprot.org/uniprot/P49001" } ], "pmid": "" }, { "name": "epithelial to mesenchymal transition", "id": "GO:0001837", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001837", "evidence": [ { "database": "UniProtKB", "id": "P49001", "url": "https://www.uniprot.org/uniprot/P49001" } ], "pmid": "" }, { "name": "chondrocyte differentiation", "id": "GO:0002062", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002062", "evidence": [ { "database": "UniProtKB", "id": "P49001", "url": "https://www.uniprot.org/uniprot/P49001" } ], "pmid": "" }, { "name": "negative regulation of MAP kinase activity", "id": "GO:0043407", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043407", "evidence": [ { "database": "UniProtKB", "id": "P49001", "url": "https://www.uniprot.org/uniprot/P49001" } ], "pmid": "" }, { "name": "negative regulation of fat cell differentiation", "id": "GO:0045599", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045599", "evidence": [ { "database": "UniProtKB", "id": "P49001", "url": "https://www.uniprot.org/uniprot/P49001" } ], "pmid": "" }, { "name": "positive regulation of epithelial to mesenchymal transition", "id": "GO:0010718", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010718", "evidence": [ { "database": "UniProtKB", "id": "P49001", "url": "https://www.uniprot.org/uniprot/P49001" } ], "pmid": "" }, { "name": "inner ear development", "id": "GO:0048839", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048839", "evidence": [ { "database": "UniProtKB", "id": "P49001", "url": "https://www.uniprot.org/uniprot/P49001" } ], "pmid": "" }, { "name": "negative regulation of transforming growth factor beta receptor signaling pathway", "id": "GO:0030512", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030512", "evidence": [ { "database": "UniProtKB", "id": "P49001", "url": "https://www.uniprot.org/uniprot/P49001" } ], "pmid": "" }, { "name": "cardiac epithelial to mesenchymal transition", "id": "GO:0060317", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060317", "evidence": [ { "database": "UniProtKB", "id": "P49001", "url": "https://www.uniprot.org/uniprot/P49001" } ], "pmid": "" }, { "name": "cellular response to organic cyclic compound", "id": "GO:0071407", "url": 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