{ "uniprot_canonical_ac": "O75197-1", "uniprot_ac": "O75197", "uniprot_id": "LRP5_HUMAN", "mass": { "chemical_mass": 179145.0, "monoisotopic_mass": 179145.0 }, "refseq": { "ac": "NP_001278831", "name": "low-density lipoprotein receptor-related protein 5 isoform 2", "summary": "This gene encodes a transmembrane low-density lipoprotein receptor that binds and internalizes ligands in the process of receptor-mediated endocytosis. This protein also acts as a co-receptor with Frizzled protein family members for transducing signals by Wnt proteins and was originally cloned on the basis of its association with type 1 diabetes mellitus in humans. This protein plays a key role in skeletal homeostasis and many bone density related diseases are caused by mutations in this gene. Mutations in this gene also cause familial exudative vitreoretinopathy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2014].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001278831" }, "gene_names": [ { "name": "LRP5", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O75197", "id": "O75197" }, { "name": "BMND1; EVR1; EVR4; HBM; LR3; LRP-5; LRP-7; LRP7; OPPG; OPS; OPTA1; PCLD4; VBCH2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001278831", "id": "NP_001278831" }, { "name": "LR3", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O75197", "id": "O75197" }, { "name": "LRP5", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001278831", "id": "NP_001278831" }, { "name": "LRP7", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O75197", "id": "O75197" } ], "protein_names": [ { "name": "Low-density lipoprotein receptor-related protein 5", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O75197" }, { "name": "LRP-5", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O75197" }, { "name": "LRP-7", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O75197" }, { "name": "Low-density lipoprotein receptor-related protein 7", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O75197" }, { "name": "low density lipoprotein receptor-related protein 7; low density lipoprotein receptor-related protein 5", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001278831", "id": "NP_001278831" }, { "name": "low-density lipoprotein receptor-related protein 5 isoform 2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001278831", "id": "NP_001278831" } ], "function": [ { "annotation": "Acts as a coreceptor with members of the frizzled family of seven-transmembrane spanning receptors to transduce signal by Wnt proteins (PubMed:11336703, PubMed:11448771, PubMed:15778503, PubMed:11719191, PubMed:15908424, PubMed:16252235). Activates the canonical Wnt signaling pathway that controls cell fate determination and self-renewal during embryonic development and adult tissue regeneration (PubMed:11336703, PubMed:11719191). In particular, may play an important role in the development of the posterior patterning of the epiblast during gastrulation (By similarity). During bone development, regulates osteoblast proliferation and differentiation thus determining bone mass (PubMed:11719191). Mechanistically, the formation of the signaling complex between Wnt ligand, frizzled receptor and LRP5 coreceptor promotes the recruitment of AXIN1 to LRP5, stabilizing beta-catenin/CTNNB1 and activating TCF/LEF-mediated transcriptional programs (PubMed:11336703, PubMed:25920554, PubMed:24706814, PubMed:14731402). Acts as a coreceptor for non-Wnt proteins, such as norrin/NDP. Binding of norrin/NDP to frizzled 4/FZD4-LRP5 receptor complex triggers beta-catenin/CTNNB1-dependent signaling known to be required for retinal vascular development (PubMed:27228167, PubMed:16252235). Plays a role in controlling postnatal vascular regression in retina via macrophage-induced endothelial cell apoptosis (By similarity).", "evidence": [ { "database": "UniProtKB", "id": "O75197", "url": "https://www.uniprot.org/uniprot/O75197#function" }, { "database": "UniProtKB", "id": "Q91VN0", "url": "https://www.uniprot.org/uniprot/Q91VN0#function" }, { "database": "PubMed", "id": "27228167", "url": "https://glygen.org/publication/PubMed/27228167" }, { "database": "PubMed", "id": "16252235", "url": "https://glygen.org/publication/PubMed/16252235" }, { "database": "PubMed", "id": "15778503", "url": "https://glygen.org/publication/PubMed/15778503" }, { "database": "PubMed", "id": "11336703", "url": "https://glygen.org/publication/PubMed/11336703" }, { "database": "PubMed", "id": "15908424", "url": "https://glygen.org/publication/PubMed/15908424" }, { "database": "PubMed", "id": "11448771", "url": "https://glygen.org/publication/PubMed/11448771" }, { "database": "PubMed", "id": "14731402", "url": "https://glygen.org/publication/PubMed/14731402" }, { "database": "PubMed", "id": "24706814", "url": "https://glygen.org/publication/PubMed/24706814" }, { "database": "PubMed", "id": "11719191", "url": "https://glygen.org/publication/PubMed/11719191" }, { "database": "PubMed", "id": "25920554", "url": "https://glygen.org/publication/PubMed/25920554" } ] }, { "annotation": "Genetic detection of two novel LRP5 pathogenic variants in patients with familial exudative vitreoretinopathy. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001278831", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001278831" }, { "database": "PubMed", "id": "38030997", "url": "https://glygen.org/publication/PubMed/38030997" } ] }, { "annotation": "Human Placental LRP5 and Sclerostin are Increased in Gestational Diabetes Mellitus Pregnancies.", "evidence": [ { "database": "RefSeq", "id": "NP_001278831", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001278831" }, { "database": "PubMed", "id": "36947076", "url": "https://glygen.org/publication/PubMed/36947076" } ] }, { "annotation": "LRP5, Bone Mass Polymorphisms and Skeletal Disorders. Review article Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001278831", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001278831" }, { "database": "PubMed", "id": "37895195", "url": "https://glygen.org/publication/PubMed/37895195" } ] }, { "annotation": "LRP5, SLC6A3, and SOX10 Expression in Conventional Ameloblastoma. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001278831", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001278831" }, { "database": "PubMed", "id": "37628576", "url": "https://glygen.org/publication/PubMed/37628576" } ] }, { "annotation": "LRP5-/6 gene polymorphisms and its association with risk of abnormal bone mass in postmenopausal women. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001278831", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001278831" }, { "database": "PubMed", "id": "37202775", "url": "https://glygen.org/publication/PubMed/37202775" } ] }, { "annotation": "This gene encodes a transmembrane low-density lipoprotein receptor that binds and internalizes ligands in the process of receptor-mediated endocytosis. This protein also acts as a co-receptor with Frizzled protein family members for transducing signals by Wnt proteins and was originally cloned on the basis of its association with type 1 diabetes mellitus in humans. This protein plays a key role in skeletal homeostasis and many bone density related diseases are caused by mutations in this gene. Mutations in this gene also cause familial exudative vitreoretinopathy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2014].", "evidence": [ { "database": "RefSeq", "id": "NP_001278831", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001278831" } ] } ], "disease": [ { "disease_id": "DOID:0050535", "recommended_name": { "id": "DOID:0050535", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050535", "name": "exudative vitreoretinopathy", "description": "A retinal vascular disease characterized by the prevention of blood vessel formation at the edges of the retina and the hemorrhage of the blood vessels in the retina." }, "synonyms": [ { "id": "DOID:0050535", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050535", "name": "FEVR", "description": "" }, { "id": "DOID:0050535", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050535", "name": "familial exudative vitreoretinopathy", "description": "" }, { "id": "MONDO:0007589", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007589", "name": "exudative vitreoretinopathy 1", "description": "" }, { "id": "MONDO:0007589", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007589", "name": "exudative vitreoretinopathy 1", "description": "" }, { "id": "MONDO:0007589", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007589", "name": "exudative vitreoretinopathy type 1", "description": "" }, { "id": "MONDO:0007589", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007589", "name": "Criswick-Schepens syndrome", "description": "" }, { "id": "MONDO:0007589", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007589", "name": "EVR1", "description": "" }, { "id": "MONDO:0007589", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007589", "name": "FEVR, autosomal dominant", "description": "" }, { "id": "MONDO:0007589", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007589", "name": "exudative vitreoretinopathy, familial, autosomal dominant", "description": "" }, { "id": "MONDO:0007589", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007589", "name": "retinopathy of prematurity", "description": "" }, { "id": "MIM:133780", "resource": "MIM", "url": "https://www.omim.org/entry/133780", "name": "Vitreoretinopathy, exudative 1", "description": "Vitreoretinopathy, exudative 1" } ], "evidence": [ { "id": "133780", "database": "MIM", "url": "https://www.omim.org/entry/133780" } ] }, { "disease_id": "DOID:0060849", "recommended_name": { "id": "DOID:0060849", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060849", "name": "osteoporosis-pseudoglioma syndrome", "description": "A syndrome characterized by congenital or infancy-onset blindness, very low bone mass, decreased trabecular bone volume, severe juvenile-onset osteoporosis and spontaneous fractures, pseudoglioma, microphthalmia that has_material_basis_in homozygous or compound heterozygous mutation in the LRP5 gene on chromosome 11q13." }, "synonyms": [ { "id": "DOID:0060849", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060849", "name": "OPPG", "description": "" }, { "id": "DOID:0060849", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060849", "name": "ocular form of osteogenesis imperfecta", "description": "" }, { "id": "MONDO:0009820", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009820", "name": "osteoporosis-pseudoglioma syndrome", "description": "Osteoporosis pseudoglioma syndrome is a very rare autosomal recessive disorder characterized by congenital or infancy-onset blindness and severe juvenile-onset osteoporosis and spontaneous fractures." }, { "id": "MONDO:0009820", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009820", "name": "OPPG", "description": "" }, { "id": "MONDO:0009820", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009820", "name": "ocular form of osteogenesis imperfecta", "description": "" }, { "id": "MONDO:0009820", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009820", "name": "osteoporosis-pseudoglioma syndrome", "description": "" }, { "id": "MONDO:0009820", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009820", "name": "Ops", "description": "" }, { "id": "MONDO:0009820", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009820", "name": "osteogenesis imperfecta ocular form", "description": "" }, { "id": "MONDO:0009820", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009820", "name": "osteogenesis imperfecta, ocular form", "description": "" }, { "id": "MONDO:0009820", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009820", "name": "osteoporosis pseudoglioma syndrome", "description": "" }, { "id": "MONDO:0009820", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009820", "name": "pseudoglioma with bone fragility", "description": "" }, { "id": "MIM:259770", "resource": "MIM", "url": "https://www.omim.org/entry/259770", "name": "Osteoporosis-pseudoglioma syndrome", "description": "Osteoporosis-pseudoglioma syndrome" } ], "evidence": [ { "id": "259770", "database": "MIM", "url": "https://www.omim.org/entry/259770" } ] }, { "disease_id": "DOID:0080037", "recommended_name": { "id": "DOID:0080037", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080037", "name": "Worth syndrome", "description": "A hyperostosis that has_material_basis_in a mutation in the LRP5 gene which results_in increased bone density and bony structures located_in palate." }, "synonyms": [ { "id": "DOID:0080037", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080037", "name": "autosomal dominant endosteal hyperostosis", "description": "" }, { "id": "DOID:0080037", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080037", "name": "autosomal dominant osteosclerosis", "description": "" }, { "id": "DOID:0080037", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080037", "name": "benign form of Worth hyperostosis corticalis generalisata with torus platinus", "description": "" }, { "id": "DOID:0080037", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080037", "name": "Worth's syndrome", "description": "" }, { "id": "MONDO:0007764", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007764", "name": "autosomal dominant osteosclerosis, Worth type", "description": "A sclerozing bone disorder characterized by generalized skeletal densification, particularly of the cranial vault and tubular long bones, which is not associated to an increased risk of fracture." }, { "id": "MONDO:0007764", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007764", "name": "Ostosclrose autosomique dominante type Worth", "description": "" }, { "id": "MONDO:0007764", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007764", "name": "Worth syndrome", "description": "" }, { "id": "MONDO:0007764", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007764", "name": "Worth's syndrome", "description": "" }, { "id": "MONDO:0007764", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007764", "name": "autosomal dominant endosteal hyperostosis", "description": "" }, { "id": "MONDO:0007764", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007764", "name": "autosomal dominant osteosclerosis", "description": "" }, { "id": "MONDO:0007764", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007764", "name": "benign form of Worth hyperostosis corticalis generalisata with torus platinus", "description": "" }, { "id": "MONDO:0007764", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007764", "name": "endosteal hyperostosis, Worth type", "description": "" }, { "id": "MONDO:0007764", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007764", "name": "hyperostosis, endosteal", "description": "" }, { "id": "MONDO:0007764", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007764", "name": "VBCH2", "description": "" }, { "id": "MONDO:0007764", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007764", "name": "Van Buchem disease type 2", "description": "" }, { "id": "MONDO:0007764", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007764", "name": "Van Buchem disease, type 2", "description": "" }, { "id": "MONDO:0007764", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007764", "name": "endosteal hyperostosis, autosomal dominant", "description": "" }, { "id": "MONDO:0007764", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007764", "name": "hyperostosis corticalis generalisata, benign form of Worth with torus palatinus", "description": "" }, { "id": "MONDO:0007764", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007764", "name": "hyperostosis corticalis generalisata, benign form of Worth, with torus palatinus", "description": "" }, { "id": "MONDO:0007764", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007764", "name": "osteosclerosis of the skull and enlarged mandible", "description": "" }, { "id": "MONDO:0007764", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007764", "name": "osteosclerosis, autosomal dominant", "description": "" }, { "id": "MONDO:0007764", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007764", "name": "osteosclerosis, autosomal dominant, Worth type", "description": "" }, { "id": "MONDO:0007764", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007764", "name": "autosomal dominant osteosclerosis, Worth type", "description": "A sclerozing bone disorder characterized by generalized skeletal densification, particularly of the cranial vault and tubular long bones, which is not associated to an increased risk of fracture." }, { "id": "MONDO:0007764", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007764", "name": "Ostosclrose autosomique dominante type Worth", "description": "" }, { "id": "MONDO:0007764", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007764", "name": "Worth syndrome", "description": "" }, { "id": "MONDO:0007764", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007764", "name": "Worth's syndrome", "description": "" }, { "id": "MONDO:0007764", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007764", "name": "autosomal dominant endosteal hyperostosis", "description": "" }, { "id": "MONDO:0007764", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007764", "name": "autosomal dominant osteosclerosis", "description": "" }, { "id": "MONDO:0007764", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007764", "name": "benign form of Worth hyperostosis corticalis generalisata with torus platinus", "description": "" }, { "id": "MONDO:0007764", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007764", "name": "endosteal hyperostosis, Worth type", "description": "" }, { "id": "MONDO:0007764", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007764", "name": "hyperostosis, endosteal", "description": "" }, { "id": "MONDO:0007764", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007764", "name": "VBCH2", "description": "" }, { "id": "MONDO:0007764", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007764", "name": "Van Buchem disease type 2", "description": "" }, { "id": "MONDO:0007764", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007764", "name": "Van Buchem disease, type 2", "description": "" }, { "id": "MONDO:0007764", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007764", "name": "endosteal hyperostosis, autosomal dominant", "description": "" }, { "id": "MONDO:0007764", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007764", "name": "hyperostosis corticalis generalisata, benign form of Worth with torus palatinus", "description": "" }, { "id": "MONDO:0007764", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007764", "name": "hyperostosis corticalis generalisata, benign form of Worth, with torus palatinus", "description": "" }, { "id": "MONDO:0007764", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007764", "name": "osteosclerosis of the skull and enlarged mandible", "description": "" }, { "id": "MONDO:0007764", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007764", "name": "osteosclerosis, autosomal dominant", "description": "" }, { "id": "MONDO:0007764", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007764", "name": "osteosclerosis, autosomal dominant, Worth type", "description": "" }, { "id": "MIM:144750", "resource": "MIM", "url": "https://www.omim.org/entry/144750", "name": "Endosteal hyperostosis, Worth type", "description": "Endosteal hyperostosis, Worth type" }, { "id": "MIM:607636", "resource": "MIM", "url": "https://www.omim.org/entry/607636", "name": "Van Buchem disease 2", "description": "Van Buchem disease 2" } ], "evidence": [ { "id": "144750", "database": "MIM", "url": "https://www.omim.org/entry/144750" }, { "id": "607636", "database": "MIM", "url": "https://www.omim.org/entry/607636" } ] }, { "disease_id": "DOID:0110937", "recommended_name": { "id": "DOID:0110937", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110937", "name": "autosomal dominant osteopetrosis 1", "description": "An osteopetrosis characterized by autosomal dominant inheritance of generalized osteosclerosis that is most pronounced in the cranial vault, absence of increased fractures and has_material_basis_in heterozygous mutation in the LRP5 gene on chromosome 11q13." }, "synonyms": [ { "id": "DOID:0110937", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110937", "name": "OPTA1", "description": "" }, { "id": "DOID:0110937", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110937", "name": "autosomal dominant osteopetrosis type 1", "description": "" }, { "id": "MONDO:0011877", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011877", "name": "autosomal dominant osteopetrosis 1", "description": "Autosomal dominant osteopetrosis type I (ADO I) is a sclerosing bone disorder characterized by skeletal densification that predominantly involves the cranial vault." }, { "id": "MONDO:0011877", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011877", "name": "LRP5 osteopetrosis (disease)", "description": "" }, { "id": "MONDO:0011877", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011877", "name": "OPTA1", "description": "" }, { "id": "MONDO:0011877", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011877", "name": "autosomal dominant osteopetrosis type 1", "description": "" }, { "id": "MONDO:0011877", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011877", "name": "osteopetrosis (disease) caused by mutation in LRP5", "description": "" }, { "id": "MONDO:0011877", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011877", "name": "osteopetrosis, autosomal dominant type 1", "description": "" }, { "id": "MONDO:0011877", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011877", "name": "osteopetrosis autosomal dominant type 1", "description": "" }, { "id": "MONDO:0011877", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011877", "name": "osteopetrosis, autosomal dominant 1", "description": "" }, { "id": "MONDO:0011877", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011877", "name": "osteopetrosis, autosomal dominant, type 1", "description": "" }, { "id": "MIM:607634", "resource": "MIM", "url": "https://www.omim.org/entry/607634", "name": "Osteopetrosis, autosomal dominant 1", "description": "Osteopetrosis, autosomal dominant 1" } ], "evidence": [ { "id": "607634", "database": "MIM", "url": "https://www.omim.org/entry/607634" } ] }, { "disease_id": "DOID:0111411", "recommended_name": { "id": "DOID:0111411", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111411", "name": "exudative vitreoretinopathy 4", "description": "An exudative vitreoretinopathy that has_material_basis_in homozygous, compound heterozygous, or heterozygous mutation in the LRP5 gene on chromosome 11q13.2." }, "synonyms": [ { "id": "DOID:0111411", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111411", "name": "EVR4", "description": "" }, { "id": "MONDO:0011151", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011151", "name": "exudative vitreoretinopathy 4", "description": "" }, { "id": "MONDO:0011151", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011151", "name": "exudative vitreoretinopathy 4", "description": "" }, { "id": "MONDO:0011151", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011151", "name": "exudative vitreoretinopathy type 4", "description": "" }, { "id": "MONDO:0011151", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011151", "name": "EVR4", "description": "" }, { "id": "MIM:601813", "resource": "MIM", "url": "https://www.omim.org/entry/601813", "name": "Vitreoretinopathy, exudative 4", "description": "Vitreoretinopathy, exudative 4" } ], "evidence": [ { "id": "601813", "database": "MIM", "url": "https://www.omim.org/entry/601813" } ] }, { "disease_id": "DOID:0111412", "recommended_name": { "id": "DOID:0111412", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111412", "name": "exudative vitreoretinopathy 1", "description": "An exudative vitreoretinopathy that has_material_basis_in heterozygous mutation in the FZD4 gene on chromosome 11q14.2." }, "synonyms": [ { "id": "DOID:0111412", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111412", "name": "EVR1", "description": "" }, { "id": "MONDO:0007589", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007589", "name": "exudative vitreoretinopathy 1", "description": "" }, { "id": "MONDO:0007589", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007589", "name": "exudative vitreoretinopathy 1", "description": "" }, { "id": "MONDO:0007589", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007589", "name": "exudative vitreoretinopathy type 1", "description": "" }, { "id": "MONDO:0007589", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007589", "name": "Criswick-Schepens syndrome", "description": "" }, { "id": "MONDO:0007589", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007589", "name": "EVR1", "description": "" }, { "id": "MONDO:0007589", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007589", "name": "FEVR, autosomal dominant", "description": "" }, { "id": "MONDO:0007589", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007589", "name": "exudative vitreoretinopathy, familial, autosomal dominant", "description": "" }, { "id": "MONDO:0007589", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007589", "name": "retinopathy of prematurity", "description": "" }, { "id": "MIM:133780", "resource": "MIM", "url": "https://www.omim.org/entry/133780", "name": "Vitreoretinopathy, exudative 1", "description": "Vitreoretinopathy, exudative 1" } ], "evidence": [ { "id": "133780", "database": "MIM", "url": "https://www.omim.org/entry/133780" } ] }, { "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": "166710", "database": "MIM", "url": "https://www.omim.org/entry/166710" } ] }, { "disease_id": "DOID:13533", "recommended_name": { "id": "DOID:13533", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:13533", "name": "osteopetrosis", "description": "An osteosclerosis that has_material_basis_in lack of bone resorption which results_in abnormally hard and brittle bones." }, "synonyms": [ { "id": "DOID:13533", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:13533", "name": "Albers-Schonberg disease", "description": "" }, { "id": "DOID:13533", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:13533", "name": "marble bone", "description": "" }, { "id": "MONDO:0011877", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011877", "name": "autosomal dominant osteopetrosis 1", "description": "Autosomal dominant osteopetrosis type I (ADO I) is a sclerosing bone disorder characterized by skeletal densification that predominantly involves the cranial vault." }, { "id": "MONDO:0011877", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011877", "name": "LRP5 osteopetrosis (disease)", "description": "" }, { "id": "MONDO:0011877", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011877", "name": "OPTA1", "description": "" }, { "id": "MONDO:0011877", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011877", "name": "autosomal dominant osteopetrosis type 1", "description": "" }, { "id": "MONDO:0011877", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011877", "name": "osteopetrosis (disease) caused by mutation in LRP5", "description": "" }, { "id": "MONDO:0011877", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011877", "name": "osteopetrosis, autosomal dominant type 1", "description": "" }, { "id": "MONDO:0011877", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011877", "name": "osteopetrosis autosomal dominant type 1", "description": "" }, { "id": "MONDO:0011877", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011877", "name": "osteopetrosis, autosomal dominant 1", "description": "" }, { "id": "MONDO:0011877", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011877", "name": "osteopetrosis, autosomal dominant, type 1", "description": "" }, { "id": "MONDO:0009815", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009815", "name": "autosomal recessive osteopetrosis 1", "description": "Any autosomal recessive malignant osteopetrosis in which the cause of the disease is a mutation in the TCIRG1 gene." }, { "id": "MONDO:0009815", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009815", "name": "OPTB1", "description": "" }, { "id": "MONDO:0009815", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009815", "name": "TCIRG1 autosomal recessive malignant osteopetrosis", "description": "" }, { "id": "MONDO:0009815", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009815", "name": "TCIRG1 autosomal recessive osteopetrosis", "description": "" }, { "id": "MONDO:0009815", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009815", "name": "autosomal recessive Albers-Schonberg disease", "description": "" }, { "id": "MONDO:0009815", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009815", "name": "autosomal recessive malignant osteopetrosis caused by mutation in TCIRG1", "description": "" }, { "id": "MONDO:0009815", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009815", "name": "autosomal recessive osteopetrosis 1", "description": "" }, { "id": "MONDO:0009815", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009815", "name": "autosomal recessive osteopetrosis caused by mutation in TCIRG1", "description": "" }, { "id": "MONDO:0009815", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009815", "name": "autosomal recessive osteopetrosis type 1", "description": "" }, { "id": "MONDO:0009815", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009815", "name": "infantile malignant osteopetrosis 1", "description": "" }, { "id": "MONDO:0009815", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009815", "name": "osteopetrosis, autosomal recessive type 1", "description": "" }, { "id": "MONDO:0009815", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009815", "name": "Albers-Schonberg disease, autosomal recessive", "description": "" }, { "id": "MONDO:0009815", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009815", "name": "marble bones autosomal recessive", "description": "" }, { "id": "MONDO:0009815", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009815", "name": "marble bones, autosomal recessive", "description": "" }, { "id": "MONDO:0009815", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009815", "name": "osteopetrosis autosomal recessive 1", "description": "" }, { "id": "MONDO:0009815", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009815", "name": "osteopetrosis infantile malignant 1", "description": "" }, { "id": "MONDO:0009815", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009815", "name": "osteopetrosis, autosomal recessive 1", "description": "" }, { "id": "MONDO:0009815", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009815", "name": "osteopetrosis, infantile malignant 1", "description": "" }, { "id": "MIM:607634", "resource": "MIM", "url": "https://www.omim.org/entry/607634", "name": "Osteopetrosis, autosomal dominant 1", "description": "Osteopetrosis, autosomal dominant 1" }, { "id": "MIM:259700", "resource": "MIM", "url": "https://www.omim.org/entry/259700", "name": "Osteopetrosis, autosomal recessive 1", "description": "Osteopetrosis, autosomal recessive 1" } ], "evidence": [ { "id": "607634", "database": "MIM", "url": "https://www.omim.org/entry/607634" } ] }, { "disease_id": "MONDO:0044271", "recommended_name": { "id": "MONDO:0044271", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044271", "name": "obsolete bone mineral density quantitative trait locus 1", "description": "" }, "synonyms": [ { "id": "MONDO:0044271", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044271", "name": "bone mineral density variability 1", "description": "" }, { "id": "MONDO:0044271", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044271", "name": "BMND1", "description": "" }, { "id": "MONDO:0044271", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044271", "name": "bone mineral density quantitative trait locus 1", "description": "" }, { "id": "MONDO:0044271", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044271", "name": "high bone Mass", "description": "" }, { "id": "MONDO:0044271", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044271", "name": "osteoporosis, susceptibility to", "description": "" }, { "id": "MIM:601884", "resource": "MIM", "url": "https://www.omim.org/entry/601884", "name": "High bone mass trait", "description": "High bone mass trait" } ], "evidence": [ { "id": "601884", "database": "MIM", "url": "https://www.omim.org/entry/601884" } ] }, { "disease_id": "MONDO:0044327", "recommended_name": { "id": "MONDO:0044327", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044327", "name": "polycystic liver disease 4 with or without kidney cysts", "description": "An autosomal dominant disease characterized by adult-onset of liver cysts arising from the bile duct epithelium, caused by heterozygous mutation in the LRP5 gene. Some patients may develop a few kidney cysts, but these are often incidental and do not result in renal failure." }, "synonyms": [ { "id": "MONDO:0044327", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044327", "name": "polycystic liver disease 4 with or without kidney cysts", "description": "" }, { "id": "MONDO:0044327", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044327", "name": "PCLD4", "description": "" }, { "id": "MIM:617875", "resource": "MIM", "url": "https://www.omim.org/entry/617875", "name": "Polycystic liver disease 4 with or without kidney cysts", "description": "Polycystic liver disease 4 with or without kidney cysts" } ], "evidence": [ { "id": "617875", "database": "MIM", "url": "https://www.omim.org/entry/617875" } ] } ], "snv": [ { "evidence": [ { "id": "rs371729974", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs371729974" }, { "id": "rs371729974", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs371729974" }, { "id": "rs371729974", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs371729974#frequency_tab" }, { "id": "rs371729974", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs371729974" } ], "glycoeffect": [ "n-glyco-sequon-loss", "n-glyco-sequon-gain" ], "start_pos": 138, "end_pos": 138, "sequence_org": "N", "sequence_mut": "S", "comment": "Somatic mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NGT->SGT); n-glyco-sequon-gain (NLN->NLS).", "chr_id": "11", "chr_pos": "68348168", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N138", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "rs147758521", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs147758521" }, { "id": "rs147758521", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs147758521" }, { "id": "rs147758521", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs147758521" }, { "id": "rs147758521", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs147758521#frequency_tab" }, { "id": "rs147758521", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs147758521" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 1006, "end_pos": 1006, "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (DGT->NGT).", "chr_id": "11", "chr_pos": "68416516", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "0.0002", "site_lbl": "D1006", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "O75197", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O75197" }, { "id": "rs1209062729", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1209062729" }, { "id": "rs1209062729", "database": "NCI-TCGA", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1209062729" }, { "id": "rs1209062729", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1209062729" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 1028, "end_pos": 1028, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "D", "sequence_mut": "N", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-gain (DLS->NLS).", "chr_id": "11", "chr_pos": "68423543", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "D1028", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": 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"id": "MONDO:0009815", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009815", "name": "osteopetrosis, autosomal recessive type 1", "description": "" }, { "id": "MONDO:0009815", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009815", "name": "Albers-Schonberg disease, autosomal recessive", "description": "" }, { "id": "MONDO:0009815", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009815", "name": "marble bones autosomal recessive", "description": "" }, { "id": "MONDO:0009815", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009815", "name": "marble bones, autosomal recessive", "description": "" }, { "id": "MONDO:0009815", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009815", "name": "osteopetrosis autosomal recessive 1", "description": "" }, { "id": "MONDO:0009815", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009815", "name": "osteopetrosis infantile malignant 1", "description": "" }, { "id": "MONDO:0009815", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009815", "name": "osteopetrosis, autosomal recessive 1", "description": "" }, { "id": "MONDO:0009815", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009815", "name": "osteopetrosis, infantile malignant 1", "description": "" }, { "id": "MIM:607634", "resource": "MIM", "url": "https://www.omim.org/entry/607634", "name": "Osteopetrosis, autosomal dominant 1", "description": "Osteopetrosis, autosomal dominant 1" }, { "id": "MIM:259700", "resource": "MIM", "url": "https://www.omim.org/entry/259700", "name": "Osteopetrosis, autosomal recessive 1", "description": "Osteopetrosis, autosomal recessive 1" } ] }, { "disease_id": "DOID:0111412", "recommended_name": { "id": "DOID:0111412", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111412", "name": "exudative vitreoretinopathy 1", "description": "An exudative vitreoretinopathy that has_material_basis_in heterozygous mutation in the FZD4 gene on chromosome 11q14.2." }, "synonyms": [ { "id": "DOID:0111412", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111412", "name": "EVR1", "description": "" }, { "id": "MONDO:0007589", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007589", "name": "exudative vitreoretinopathy 1", "description": "" }, { "id": "MONDO:0007589", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007589", "name": "exudative vitreoretinopathy 1", "description": "" }, { "id": "MONDO:0007589", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007589", "name": "exudative vitreoretinopathy type 1", "description": "" }, { "id": "MONDO:0007589", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007589", "name": "Criswick-Schepens syndrome", "description": "" }, { "id": "MONDO:0007589", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007589", "name": "EVR1", "description": "" }, { "id": "MONDO:0007589", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007589", "name": "FEVR, autosomal dominant", "description": "" }, { "id": "MONDO:0007589", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007589", "name": "exudative vitreoretinopathy, familial, autosomal dominant", "description": "" }, { "id": "MONDO:0007589", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007589", "name": "retinopathy of prematurity", "description": "" }, { "id": "MIM:133780", "resource": "MIM", "url": "https://www.omim.org/entry/133780", "name": "Vitreoretinopathy, exudative 1", "description": "Vitreoretinopathy, exudative 1" } ] }, { "disease_id": "DOID:0050535", "recommended_name": { "id": "DOID:0050535", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050535", "name": "exudative vitreoretinopathy", "description": "A retinal vascular disease characterized by the prevention of blood vessel formation at the edges of the retina and the hemorrhage of the blood vessels in the retina." }, "synonyms": [ { "id": "DOID:0050535", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050535", "name": "FEVR", "description": "" }, { "id": "DOID:0050535", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050535", "name": "familial exudative vitreoretinopathy", "description": "" }, { "id": "MONDO:0007589", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007589", "name": "exudative vitreoretinopathy 1", "description": "" }, { "id": "MONDO:0007589", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007589", "name": "exudative vitreoretinopathy 1", "description": "" }, { "id": "MONDO:0007589", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007589", "name": "exudative vitreoretinopathy type 1", "description": "" }, { "id": "MONDO:0007589", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007589", "name": "Criswick-Schepens syndrome", "description": "" }, { "id": "MONDO:0007589", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007589", "name": "EVR1", "description": "" }, { "id": "MONDO:0007589", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007589", "name": "FEVR, autosomal dominant", "description": "" }, { "id": "MONDO:0007589", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007589", "name": "exudative vitreoretinopathy, familial, autosomal dominant", "description": "" }, { "id": "MONDO:0007589", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007589", "name": "retinopathy of prematurity", "description": "" }, { "id": "MIM:133780", "resource": "MIM", "url": "https://www.omim.org/entry/133780", "name": "Vitreoretinopathy, exudative 1", "description": "Vitreoretinopathy, exudative 1" } ] }, { "disease_id": "DOID:0111411", "recommended_name": { "id": "DOID:0111411", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111411", "name": "exudative vitreoretinopathy 4", "description": "An exudative vitreoretinopathy that has_material_basis_in homozygous, compound heterozygous, or heterozygous mutation in the LRP5 gene on chromosome 11q13.2." }, "synonyms": [ { "id": "DOID:0111411", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111411", "name": "EVR4", "description": "" }, { "id": "MONDO:0011151", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011151", "name": "exudative vitreoretinopathy 4", "description": "" }, { "id": "MONDO:0011151", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011151", "name": "exudative vitreoretinopathy 4", "description": "" }, { "id": "MONDO:0011151", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011151", "name": "exudative vitreoretinopathy type 4", "description": "" }, { "id": "MONDO:0011151", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011151", "name": "EVR4", "description": "" }, { "id": "MIM:601813", "resource": "MIM", "url": "https://www.omim.org/entry/601813", "name": "Vitreoretinopathy, exudative 4", "description": "Vitreoretinopathy, exudative 4" } ] }, { "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" } ] }, { "disease_id": "DOID:0060849", "recommended_name": { "id": "DOID:0060849", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060849", "name": "osteoporosis-pseudoglioma syndrome", "description": "A syndrome characterized by congenital or infancy-onset blindness, very low bone mass, decreased trabecular bone volume, severe juvenile-onset osteoporosis and spontaneous fractures, pseudoglioma, microphthalmia that has_material_basis_in homozygous or compound heterozygous mutation in the LRP5 gene on chromosome 11q13." }, "synonyms": [ { "id": "DOID:0060849", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060849", "name": "OPPG", "description": "" }, { "id": "DOID:0060849", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060849", "name": "ocular form of osteogenesis imperfecta", "description": "" }, { "id": "MONDO:0009820", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009820", "name": "osteoporosis-pseudoglioma syndrome", "description": "Osteoporosis pseudoglioma syndrome is a very rare autosomal recessive disorder characterized by congenital or infancy-onset blindness and severe juvenile-onset osteoporosis and spontaneous fractures." }, { "id": "MONDO:0009820", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009820", "name": "OPPG", "description": "" }, { "id": "MONDO:0009820", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009820", "name": "ocular form of osteogenesis imperfecta", "description": "" }, { "id": "MONDO:0009820", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009820", "name": "osteoporosis-pseudoglioma syndrome", "description": "" }, { "id": "MONDO:0009820", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009820", "name": "Ops", "description": "" }, { "id": "MONDO:0009820", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009820", "name": "osteogenesis imperfecta ocular form", "description": "" }, { "id": "MONDO:0009820", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009820", "name": "osteogenesis imperfecta, ocular form", "description": "" }, { "id": "MONDO:0009820", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009820", "name": "osteoporosis pseudoglioma syndrome", "description": "" }, { "id": "MONDO:0009820", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009820", "name": "pseudoglioma with bone fragility", "description": "" }, { "id": "MIM:259770", "resource": "MIM", "url": "https://www.omim.org/entry/259770", "name": "Osteoporosis-pseudoglioma syndrome", "description": "Osteoporosis-pseudoglioma syndrome" } ] }, { "disease_id": "DOID:0080037", "recommended_name": { "id": "DOID:0080037", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080037", "name": "Worth syndrome", "description": "A hyperostosis that has_material_basis_in a mutation in the LRP5 gene which results_in increased bone density and bony structures located_in palate." }, "synonyms": [ { "id": "DOID:0080037", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080037", "name": "autosomal dominant endosteal hyperostosis", "description": "" }, { "id": "DOID:0080037", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080037", "name": "autosomal dominant osteosclerosis", "description": "" }, { "id": "DOID:0080037", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080037", "name": "benign form of Worth hyperostosis corticalis generalisata with torus platinus", "description": "" }, { "id": "DOID:0080037", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080037", "name": "Worth's syndrome", "description": "" }, { "id": "MONDO:0007764", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007764", "name": "autosomal dominant osteosclerosis, Worth type", "description": "A sclerozing bone disorder characterized by generalized skeletal densification, particularly of the cranial vault and tubular long bones, which is not associated to an increased risk of fracture." }, { "id": "MONDO:0007764", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007764", "name": "Ostosclrose autosomique dominante type Worth", "description": "" }, { "id": "MONDO:0007764", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007764", "name": "Worth syndrome", "description": "" }, { "id": "MONDO:0007764", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007764", "name": "Worth's syndrome", "description": "" }, { "id": "MONDO:0007764", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007764", "name": "autosomal dominant endosteal hyperostosis", "description": "" }, { "id": "MONDO:0007764", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007764", "name": "autosomal dominant osteosclerosis", "description": "" }, { "id": "MONDO:0007764", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007764", "name": "benign form of Worth hyperostosis corticalis generalisata with torus platinus", "description": "" }, { "id": "MONDO:0007764", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007764", "name": "endosteal hyperostosis, Worth type", "description": "" }, { "id": "MONDO:0007764", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007764", "name": "hyperostosis, endosteal", "description": "" }, { "id": "MONDO:0007764", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007764", "name": "VBCH2", "description": "" }, { "id": "MONDO:0007764", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007764", "name": "Van Buchem disease type 2", "description": "" }, { "id": "MONDO:0007764", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007764", "name": "Van Buchem disease, type 2", "description": "" }, { "id": "MONDO:0007764", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007764", "name": "endosteal hyperostosis, autosomal dominant", "description": "" }, { "id": "MONDO:0007764", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007764", "name": "hyperostosis corticalis generalisata, benign form of Worth with torus palatinus", "description": "" }, { "id": "MONDO:0007764", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007764", "name": "hyperostosis corticalis generalisata, benign form of Worth, with torus palatinus", "description": "" }, { "id": "MONDO:0007764", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007764", "name": "osteosclerosis of the skull and enlarged mandible", "description": "" }, { "id": "MONDO:0007764", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007764", "name": "osteosclerosis, autosomal dominant", "description": "" }, { "id": "MONDO:0007764", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007764", "name": "osteosclerosis, autosomal dominant, Worth type", "description": "" }, { "id": "MONDO:0007764", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007764", "name": "autosomal dominant osteosclerosis, Worth type", "description": "A sclerozing bone disorder characterized by generalized skeletal densification, particularly of the cranial vault and tubular long bones, which is not associated to an increased risk of fracture." }, { "id": "MONDO:0007764", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007764", "name": "Ostosclrose autosomique dominante type Worth", "description": "" }, { "id": "MONDO:0007764", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007764", "name": "Worth syndrome", "description": "" }, { "id": "MONDO:0007764", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007764", "name": "Worth's syndrome", "description": "" }, { "id": "MONDO:0007764", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007764", "name": "autosomal dominant endosteal hyperostosis", "description": "" }, { "id": "MONDO:0007764", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007764", "name": "autosomal dominant osteosclerosis", "description": "" }, { "id": "MONDO:0007764", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007764", "name": "benign form of Worth hyperostosis corticalis generalisata with torus platinus", "description": "" }, { "id": "MONDO:0007764", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007764", "name": "endosteal hyperostosis, Worth type", "description": "" }, { "id": "MONDO:0007764", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007764", "name": "hyperostosis, endosteal", "description": "" }, { "id": "MONDO:0007764", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007764", "name": "VBCH2", "description": "" }, { "id": "MONDO:0007764", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007764", "name": "Van Buchem disease type 2", "description": "" }, { "id": "MONDO:0007764", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007764", "name": "Van Buchem disease, type 2", "description": "" }, { "id": "MONDO:0007764", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007764", "name": "endosteal hyperostosis, autosomal dominant", "description": "" }, { "id": "MONDO:0007764", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007764", "name": "hyperostosis corticalis generalisata, benign form of Worth with torus palatinus", "description": "" }, { "id": "MONDO:0007764", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007764", "name": "hyperostosis corticalis generalisata, benign form of Worth, with torus palatinus", "description": "" }, { "id": "MONDO:0007764", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007764", "name": "osteosclerosis of the skull and enlarged 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"MIM", "url": "https://www.omim.org/entry/133780", "name": "Vitreoretinopathy, exudative 1", "description": "Vitreoretinopathy, exudative 1" } ] }, { "disease_id": "DOID:0111411", "recommended_name": { "id": "DOID:0111411", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111411", "name": "exudative vitreoretinopathy 4", "description": "An exudative vitreoretinopathy that has_material_basis_in homozygous, compound heterozygous, or heterozygous mutation in the LRP5 gene on chromosome 11q13.2." }, "synonyms": [ { "id": "DOID:0111411", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111411", "name": "EVR4", "description": "" }, { "id": "MONDO:0011151", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011151", "name": "exudative vitreoretinopathy 4", "description": "" }, { "id": "MONDO:0011151", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011151", "name": "exudative vitreoretinopathy 4", "description": "" }, { "id": "MONDO:0011151", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011151", "name": "exudative vitreoretinopathy type 4", "description": "" }, { "id": "MONDO:0011151", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011151", "name": "EVR4", "description": "" }, { "id": "MIM:601813", "resource": "MIM", "url": "https://www.omim.org/entry/601813", "name": "Vitreoretinopathy, exudative 4", "description": "Vitreoretinopathy, exudative 4" } ] }, { "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" } ] }, { "disease_id": "DOID:0060849", "recommended_name": { "id": "DOID:0060849", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060849", "name": "osteoporosis-pseudoglioma syndrome", "description": "A syndrome characterized by congenital or infancy-onset blindness, very low bone mass, decreased trabecular bone volume, severe juvenile-onset osteoporosis and spontaneous fractures, pseudoglioma, microphthalmia that has_material_basis_in homozygous or compound heterozygous mutation in the LRP5 gene on chromosome 11q13." }, "synonyms": [ { "id": "DOID:0060849", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060849", "name": "OPPG", "description": "" }, { "id": "DOID:0060849", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060849", "name": "ocular form of osteogenesis imperfecta", "description": "" }, { "id": "MONDO:0009820", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009820", "name": "osteoporosis-pseudoglioma syndrome", "description": "Osteoporosis pseudoglioma syndrome is a very rare autosomal recessive disorder characterized by congenital or infancy-onset blindness and severe juvenile-onset osteoporosis and spontaneous fractures." }, { "id": "MONDO:0009820", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009820", "name": "OPPG", "description": "" }, { "id": "MONDO:0009820", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009820", "name": "ocular form of osteogenesis imperfecta", "description": "" }, { "id": "MONDO:0009820", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009820", "name": "osteoporosis-pseudoglioma syndrome", "description": "" }, { "id": "MONDO:0009820", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009820", "name": "Ops", "description": "" }, { "id": "MONDO:0009820", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009820", "name": "osteogenesis imperfecta ocular form", "description": "" }, { "id": "MONDO:0009820", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009820", "name": "osteogenesis imperfecta, ocular form", "description": "" }, { "id": "MONDO:0009820", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009820", "name": "osteoporosis pseudoglioma syndrome", "description": "" }, { "id": "MONDO:0009820", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009820", "name": "pseudoglioma with bone fragility", "description": "" }, { "id": "MIM:259770", "resource": "MIM", "url": "https://www.omim.org/entry/259770", "name": "Osteoporosis-pseudoglioma syndrome", "description": "Osteoporosis-pseudoglioma syndrome" } ] }, { "disease_id": "DOID:0080037", "recommended_name": { "id": "DOID:0080037", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080037", "name": "Worth syndrome", "description": "A hyperostosis that has_material_basis_in a mutation in the LRP5 gene which results_in increased bone density and bony structures located_in palate." }, "synonyms": [ { "id": "DOID:0080037", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080037", "name": "autosomal dominant endosteal hyperostosis", "description": "" }, { "id": "DOID:0080037", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080037", "name": "autosomal dominant osteosclerosis", "description": "" }, { "id": "DOID:0080037", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080037", "name": "benign form of Worth hyperostosis corticalis generalisata with torus platinus", "description": "" }, { "id": "DOID:0080037", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080037", "name": "Worth's syndrome", "description": "" }, { "id": "MONDO:0007764", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007764", "name": "autosomal dominant osteosclerosis, Worth type", "description": "A sclerozing bone disorder characterized by generalized skeletal densification, particularly of the cranial vault and tubular long bones, which is not associated to an increased risk of fracture." }, { "id": "MONDO:0007764", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007764", "name": "Ostosclrose autosomique dominante type Worth", "description": "" }, { "id": "MONDO:0007764", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007764", "name": "Worth syndrome", "description": "" }, { "id": "MONDO:0007764", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007764", "name": "Worth's syndrome", "description": "" }, { "id": "MONDO:0007764", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007764", "name": "autosomal dominant endosteal hyperostosis", "description": "" }, { "id": "MONDO:0007764", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007764", "name": "autosomal dominant osteosclerosis", "description": "" }, { "id": "MONDO:0007764", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007764", "name": "benign form of Worth hyperostosis corticalis generalisata with torus platinus", "description": "" }, { "id": "MONDO:0007764", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007764", "name": "endosteal hyperostosis, Worth type", "description": "" }, { "id": "MONDO:0007764", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007764", "name": "hyperostosis, endosteal", "description": "" }, { "id": "MONDO:0007764", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007764", "name": "VBCH2", "description": "" }, { "id": "MONDO:0007764", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007764", "name": "Van Buchem disease type 2", "description": "" }, { "id": "MONDO:0007764", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007764", "name": "Van Buchem disease, type 2", "description": "" }, { "id": "MONDO:0007764", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007764", "name": "endosteal hyperostosis, autosomal dominant", "description": "" }, { "id": "MONDO:0007764", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007764", "name": "hyperostosis corticalis generalisata, benign form of Worth with torus palatinus", "description": "" }, { "id": "MONDO:0007764", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007764", "name": "hyperostosis corticalis generalisata, benign form of Worth, with torus palatinus", "description": "" }, { "id": "MONDO:0007764", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007764", "name": "osteosclerosis of the skull and enlarged mandible", "description": "" }, { "id": "MONDO:0007764", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007764", "name": "osteosclerosis, autosomal dominant", "description": "" }, { "id": "MONDO:0007764", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007764", "name": "osteosclerosis, autosomal dominant, Worth type", "description": "" }, { "id": "MONDO:0007764", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007764", "name": "autosomal dominant osteosclerosis, Worth type", "description": "A sclerozing bone disorder characterized by generalized skeletal densification, particularly of the cranial vault and tubular long bones, which is not associated to an increased risk of fracture." }, { "id": "MONDO:0007764", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007764", "name": "Ostosclrose autosomique dominante type Worth", "description": "" }, { "id": "MONDO:0007764", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007764", "name": "Worth syndrome", "description": "" }, { "id": "MONDO:0007764", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007764", "name": "Worth's syndrome", "description": "" }, { "id": "MONDO:0007764", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007764", "name": "autosomal dominant endosteal hyperostosis", "description": "" }, { "id": "MONDO:0007764", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007764", "name": "autosomal dominant osteosclerosis", "description": "" }, { "id": "MONDO:0007764", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007764", "name": "benign form of Worth hyperostosis corticalis generalisata with torus platinus", "description": "" }, { "id": "MONDO:0007764", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007764", "name": "endosteal hyperostosis, Worth type", "description": "" }, { "id": "MONDO:0007764", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007764", "name": "hyperostosis, endosteal", "description": "" }, { "id": "MONDO:0007764", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007764", "name": "VBCH2", "description": "" }, { "id": "MONDO:0007764", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007764", "name": "Van Buchem disease type 2", "description": "" }, { "id": "MONDO:0007764", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007764", "name": "Van Buchem disease, type 2", "description": "" }, { "id": "MONDO:0007764", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007764", "name": "endosteal hyperostosis, autosomal dominant", "description": "" }, { "id": "MONDO:0007764", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007764", "name": "hyperostosis corticalis generalisata, benign form of Worth with torus palatinus", "description": "" }, { "id": "MONDO:0007764", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007764", "name": "hyperostosis corticalis generalisata, benign form of Worth, with torus palatinus", "description": "" }, { "id": "MONDO:0007764", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007764", "name": "osteosclerosis of the skull and enlarged mandible", "description": "" }, { "id": "MONDO:0007764", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007764", "name": "osteosclerosis, autosomal dominant", "description": "" }, { "id": "MONDO:0007764", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007764", "name": "osteosclerosis, autosomal dominant, Worth type", "description": "" }, { "id": "MIM:144750", "resource": "MIM", "url": "https://www.omim.org/entry/144750", "name": "Endosteal hyperostosis, Worth type", "description": "Endosteal hyperostosis, Worth type" }, { "id": "MIM:607636", "resource": "MIM", "url": "https://www.omim.org/entry/607636", "name": "Van Buchem disease 2", "description": "Van Buchem disease 2" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs771960523", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs771960523" }, { "id": "rs771960523", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs771960523" }, { "id": "rs771960523", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs771960523#frequency_tab" }, { "id": "rs771960523", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs771960523" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 95, "end_pos": 95, "sequence_org": "T", "sequence_mut": "P", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NQT->NQP).", "chr_id": "11", "chr_pos": "68348038", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T95", "keywords": [ "ebi", "germline" ] } ], "mutagenesis": [], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "79.66", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000162337", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000162337" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "54.6", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000162337", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000162337" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "76", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000162337", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000162337" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "49.96", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000162337", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000162337" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "91.59", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000162337", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000162337" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "85.75", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000162337", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000162337" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "54.2", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000162337", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000162337" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "87.12", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000162337", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000162337" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "91.69", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000162337", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000162337" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "54.81", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000162337", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000162337" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "90.62", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000162337", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000162337" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "93.56", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000162337", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000162337" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "91.67", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000162337", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000162337" } ] } ], "expression_disease": [ { "significant": "No", "trend": "down", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "O75197", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75197" } ], "disease": [ { "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 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"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, 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"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": 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}, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": 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Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] } ] }, { "significant": "No", "trend": "down", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "O75197", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75197" } ], "disease": [ { "disease_id": "DOID:1781", "recommended_name": { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid cancer", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage." }, "synonyms": [ { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid gland cancer", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", 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"name": "Colorectal cancer", "description": "Colorectal cancer" } ] } ] } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O75197", "url": "https://www.uniprot.org/uniprot/O75197" } ], "common_name": "Human" } ], "gene": [ { "name": "LRP5", "url": "https://www.uniprot.org/uniprot/O75197", "locus": { "chromosome": "11", "start_pos": 68449275, "end_pos": 68312591, "strand": "-", "evidence": [ { "database": "Ensembl Gene", "id": "ENSG00000162337", "url": "https://www.ensembl.org/id/ENSG00000162337" } ] } } ], "crossref": [ { "id": "ENSG00000162337", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000162337", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "O75197", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O75197", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "cd00112", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd00112", "database": "CDD", "categories": [ "Protein Classification" ] }, { "id": "CHEMBL4295675", "url": "https://www.ebi.ac.uk/chembldb/target/inspect/CHEMBL4295675", "database": "ChEMBL", "categories": [ "Other" ] }, { "id": "LRP5", "url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=LRP5", "database": "GeneCards", "categories": [ "Gene Annotation", "Organism-specific" ] }, { "id": "4041", "url": "https://www.ncbi.nlm.nih.gov/gene/4041", "database": "GeneID", "categories": [ "Genome Annotation" ] }, { "id": "1468", "url": "https://glyconnect.expasy.org/browser/proteins/1468", "database": "GlyConnect", "categories": [ "Glycoproteomics", "Glycan" ] }, { "id": "6697", "url": "https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=6697", "database": "HGNC", "categories": [ "Organism-specific" ] }, { "id": "O75197", "url": "https://www.ebi.ac.uk/intact/interactors/id:O75197*", "database": "IntAct", "categories": [ "Other" ] }, { "id": "IPR000033", "url": "https://www.ebi.ac.uk/interpro/entry/IPR000033", 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"PTHR46513:SF13", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR46513:SF13", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PF00057", "url": "http://pfam.xfam.org/family/PF00057", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF00058", "url": "http://pfam.xfam.org/family/PF00058", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF14670", "url": "http://pfam.xfam.org/family/PF14670", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "O75197", "url": "https://pharos.nih.gov/targets/O75197", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR_O75197", "url": "http://purl.obolibrary.org/obo/PR_O75197", "database": "PRO", "categories": [ "Protein" ] }, { "id": "R-HSA-201681", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-201681", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-3772470", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3772470", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-4641262", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-4641262", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-4641263", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-4641263", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-5339717", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5339717", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-5340588", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5340588", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "NP_001278831", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001278831", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "E9PHY1", "url": "https://www.uniprot.org/uniprot/E9PHY1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "E9PHY1-1", "url": "https://www.uniprot.org/uniprot/E9PHY1-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H0YE98", "url": "https://www.uniprot.org/uniprot/H0YE98", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H0YE98-1", "url": "https://www.uniprot.org/uniprot/H0YE98-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O75197", "url": "https://www.uniprot.org/uniprot/O75197", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O75197-1", "url": "https://www.uniprot.org/uniprot/O75197-1", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MEAAPPGPPWPLLLLLLLLLALCGCPAPAAASPLLLFANRRDVRLVDAGGVKLESTIVVSGLEDAAAVDFQFSKGAVYWTDVSEEAIKQTYLNQTGAAVQNVVISGLVSPDGLACDWVGKKLYWTDSETNRIEVANLNGTSRKVLFWQDLDQPRAIALDPAHGYMYWTDWGETPRIERAGMDGSTRKIIVDSDIYWPNGLTIDLEEQKLYWADAKLSFIHRANLDGSFRQKVVEGSLTHPFALTLSGDTLYWTDWQTRSIHACNKRTGGKRKEILSALYSPMDIQVLSQERQPFFHTRCEEDNGGCSHLCLLSPSEPFYTCACPTGVQLQDNGRTCKAGAEEVLLLARRTDLRRISLDTPDFTDIVLQVDDIRHAIAIDYDPLEGYVYWTDDEVRAIRRAYLDGSGAQTLVNTEINDPDGIAVDWVARNLYWTDTGTDRIEVTRLNGTSRKILVSEDLDEPRAIALHPVMGLMYWTDWGENPKIECANLDGQERRVLVNASLGWPNGLALDLQEGKLYWGDAKTDKIEVINVDGTKRRTLLEDKLPHIFGFTLLGDFIYWTDWQRRSIERVHKVKASRDVIIDQLPDLMGLKAVNVAKVVGTNPCADRNGGCSHLCFFTPHATRCGCPIGLELLSDMKTCIVPEAFLVFTSRAAIHRISLETNNNDVAIPLTGVKEASALDFDVSNNHIYWTDVSLKTISRAFMNGSSVEHVVEFGLDYPEGMAVDWMGKNLYWADTGTNRIEVARLDGQFRQVLVWRDLDNPRSLALDPTKGYIYWTEWGGKPRIVRAFMDGTNCMTLVDKVGRANDLTIDYADQRLYWTDLDTNMIESSNMLGQERVVIADDLPHPFGLTQYSDYIYWTDWNLHSIERADKTSGRNRTLIQGHLDFVMDILVFHSSRQDGLNDCMHNNGQCGQLCLAIPGGHRCGCASHYTLDPSSRNCSPPTTFLLFSQKSAISRMIPDDQHSPDLILPLHGLRNVKAIDYDPLDKFIYWVDGRQNIKRAKDDGTQPFVLTSLSQGQNPDRQPHDLSIDIYSRTLFWTCEATNTINVHRLSGEAMGVVLRGDRDKPRAIVVNAERGYLYFTNMQDRAAKIERAALDGTEREVLFTTGLIRPVALVVDNTLGKLFWVDADLKRIESCDLSGANRLTLEDANIVQPLGLTILGKHLYWIDRQQQMIERVEKTTGDKRTRIQGRVAHLTGIHAVEEVSLEEFSAHPCARDNGGCSHICIAKGDGTPRCSCPVHLVLLQNLLTCGEPPTCSPDQFACATGEIDCIPGAWRCDGFPECDDQSDEEGCPVCSAAQFPCARGQCVDLRLRCDGEADCQDRSDEADCDAICLPNQFRCASGQCVLIKQQCDSFPDCIDGSDELMCEITKPPSDDSPAHSSAIGPVIGIILSLFVMGGVYFVCQRVVCQRYAGANGPFPHEYVSGTPHVPLNFIAPGGSQHGPFTGIACGKSMMSSVSLMGGRGGVPLYDRNHVTGASSSSSSSTKATLYPPILNPPPSPATDPSLYNMDMFYSSNIPATARPYRPYIIRGMAPPTTPCSTDVCDSDYSASRWKASKYYLDLNSDSDPYPPPPTPHSQYLSAEDSCPPSPATERSYFHLFPPPPSPCTDSS", "length": 1615, "header": "sp|O75197-1|LRP5_HUMAN Isoform 1 of Low-density lipoprotein receptor-related protein 5 OS=Homo sapiens OX=9606 GN=LRP5 PE=1 SV=2 CANONICAL=O75197-1" }, "isoforms": [ { "isoform_ac": "E9PHY1-1", "url": "", "sequence": { "sequence": "MEAAPPGPPWPLLLLLLLLLALCGCPAPAAASPLLLFANRRDVRLVDAGGVKLESTIVVSGLEDAAAVDFQFSKGAVYWTDVSEEAIKQTYLNQTGAAVQNVVISGLVSPDGLACDWVGKKLYWTDSETNRIEVANLNGTSRKVLFWQDLDQPRAIALDPAHGYMYWTDWGETPRIERAGMDGSTRKIIVDSDIYWPNGLTIDLEEQKLYWADAKLSFIHRANLDGSFRQKVVEGSLTHPFALTLSGDTLYWTDWQTRSIHACNKRTGGKRKEILSALYSPMDIQVLSQERQPFFHTRCEEDNGGCSHLCLLSPSEPFYTCACPTGVQLQDNGRTCKAGAEEVLLLARRTDLRRISLDTPDFTDIVLQVDDIRHAIAIDYDPLEGYVYWTDDEVRAIRRAYLDGSGAQTLVNTEINDPDGIAVDWVARNLYWTDTGTDRIEVTRLNGTSRKILVSEDLDEPRAIALHPVMG", "length": 471, "header": "tr|E9PHY1-1|LRP5_HUMAN Computationally mapped isoform of Low-density lipoprotein receptor-related protein 5 OS=Homo sapiens OX=9606 GN=LRP5 PE=1 SV=1 CANONICAL=O75197-1" }, "locus": { "chromosome": "11", "start_pos": 68403483, "end_pos": 68312715, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000529993.5", "url": "https://www.ensembl.org/id/ENST00000529993.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000436652.1", "url": "https://www.ensembl.org/id/ENSP00000436652.1" } ] } }, { "isoform_ac": "H0YE98-1", "url": "", "sequence": { "sequence": "XSSSSSSTKATLYPPGLGSGCMLSRMALETHISPTPFGKLHVGLGCRQWHLWKILNPPPSPATDPSLYNMDMFYSSNIPATARPYRPYIIRGMAPPTTPCSTDVCDSDYSASRWKASKYYLDLNSDSDPYPPPPTPHSQYLSAEDSCPPSPATERSYFHLFPPPPSPCTDSS", "length": 172, "header": "tr|H0YE98-1|LRP5_HUMAN Computationally mapped isoform of Low-density lipoprotein receptor-related protein 5 OS=Homo sapiens OX=9606 GN=LRP5 PE=1 SV=1 CANONICAL=O75197-1" }, "locus": { "chromosome": "11", "start_pos": 68449068, "end_pos": 68439873, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000529702.1", "url": "https://www.ensembl.org/id/ENST00000529702.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000435315.1", "url": "https://www.ensembl.org/id/ENSP00000435315.1" } ] } }, { "isoform_ac": "O75197-1", "url": "", "sequence": { "sequence": 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"length": 1615, "header": "sp|O75197-1|LRP5_HUMAN Isoform 1 of Low-density lipoprotein receptor-related protein 5 OS=Homo sapiens OX=9606 GN=LRP5 PE=1 SV=2 CANONICAL=O75197-1" }, "locus": { "chromosome": "11", "start_pos": 68449067, "end_pos": 68312715, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000294304.12", "url": "https://www.ensembl.org/id/ENST00000294304.12" }, { "database": "Ensembl Peptide", "id": "ENSP00000294304.6", "url": "https://www.ensembl.org/id/ENSP00000294304.6" } ] } } ], "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 1122, "start_aa": "Thr", "end_pos": 1122, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr1122", "evidence": [ { "id": "O75197", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O75197" }, { "id": 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"title": "A new secreted protein that binds to Wnt proteins and inhibits their activities.", "journal": "Nature", "date": "1999", "authors": "Hsieh JC, Kodjabachian L, Rebbert ML, Rattner A, Smallwood PM, Samos CH, Nusse R, Dawid IB, Nathans J", "evidence": [ { "database": "Reactome", "id": "R-HSA-3772470", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3772470" } ], "reference": [ { "type": "PubMed", "id": "10201374", "url": "https://glygen.org/publication/PubMed/10201374" } ] }, { "title": "Interaction of frizzled related protein (FRP) with Wnt ligands and the frizzled receptor suggests alternative mechanisms for FRP inhibition of Wnt signaling.", "journal": "The Journal of biological chemistry", "date": "1999", "authors": "Bafico A, Gazit A, Pramila T, Finch PW, Yaniv A, Aaronson SA", "evidence": [ { "database": "Reactome", "id": "R-HSA-3772470", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3772470" } ], "reference": [ { "type": "PubMed", "id": "10347172", "url": 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}, { "title": "A GSK3-binding peptide from FRAT1 selectively inhibits the GSK3-catalysed phosphorylation of axin and beta-catenin.", "journal": "FEBS letters", "date": "1999", "authors": "Thomas GM, Frame S, Goedert M, Nathke I, Polakis P, Cohen P", "evidence": [ { "database": "Reactome", "id": "R-HSA-4641262", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-4641262" } ], "reference": [ { "type": "PubMed", "id": "10481074", "url": "https://glygen.org/publication/PubMed/10481074" } ] }, { "title": "A GSK3beta phosphorylation site in axin modulates interaction with beta-catenin and Tcf-mediated gene expression.", "journal": "Biochemical and biophysical research communications", "date": "1999", "authors": "Jho Eh, Lomvardas S, Costantini F", "evidence": [ { "database": "Reactome", "id": "R-HSA-4641262", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-4641262" } ], "reference": [ { "type": "PubMed", "id": "10581160", "url": "https://glygen.org/publication/PubMed/10581160" } ] }, { "title": "Interaction among GSK-3, GBP, axin, and APC in Xenopus axis specification.", "journal": "The Journal of cell biology", "date": "2000", "authors": "Farr GH 3rd, Ferkey DM, Yost C, Pierce SB, Weaver C, Kimelman D", "evidence": [ { "database": "Reactome", "id": "R-HSA-4641262", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-4641262" } ], "reference": [ { "type": "PubMed", "id": "10684251", "url": "https://glygen.org/publication/PubMed/10684251" } ] }, { "title": "GSK-3beta-dependent phosphorylation of adenomatous polyposis coli gene product can be modulated by beta-catenin and protein phosphatase 2A complexed with Axin.", "journal": "Oncogene", "date": "2000", "authors": "Ikeda S, Kishida M, Matsuura Y, Usui H, Kikuchi A", "evidence": [ { "database": "Reactome", "id": "R-HSA-4641262", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-4641262" } ], "reference": [ { "type": "PubMed", "id": "10698523", "url": "https://glygen.org/publication/PubMed/10698523" } ] }, { "title": "LDL-receptor-related proteins in Wnt signal transduction.", "journal": "Nature", "date": "2000", "authors": "Tamai K, Semenov M, Kato Y, Spokony R, Liu C, Katsuyama Y, Hess F, Saint-Jeannet JP, He X", "evidence": [ { "database": "Reactome", "id": "R-HSA-201681", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-201681" } ], "reference": [ { "type": "PubMed", "id": "11029007", "url": "https://glygen.org/publication/PubMed/11029007" } ] }, { "title": "Mutual antagonism between dickkopf1 and dickkopf2 regulates Wnt/beta-catenin signalling.", "journal": "Current biology : CB", "date": "2000", "authors": "Wu W, Glinka A, Delius H, Niehrs C", "evidence": [ { "database": "Reactome", "id": "R-HSA-3772470", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3772470" } ], "reference": [ { "type": "PubMed", "id": "11137016", "url": "https://glygen.org/publication/PubMed/11137016" } ] }, { "title": "Low-density lipoprotein receptor-related protein-5 binds to Axin and regulates the canonical Wnt signaling pathway.", "journal": "Molecular cell", "date": "2001", "authors": "Mao J, Wang J, Liu B, Pan W, Farr GH 3rd, Flynn C, Yuan H, Takada S, Kimelman D, Li L, Wu D", "evidence": [ { "database": "UniProtKB", "id": "O75197", "url": "https://www.uniprot.org/uniprot/O75197" }, { "database": "Reactome", "id": "R-HSA-4641262", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-4641262" } ], "reference": [ { "type": "PubMed", "id": "11336703", "url": "https://glygen.org/publication/PubMed/11336703" } ] }, { "title": "LDL-receptor-related protein 6 is a receptor for Dickkopf proteins.", "journal": "Nature", "date": "2001", "authors": "Mao B, Wu W, Li Y, Hoppe D, Stannek P, Glinka A, Niehrs C", "evidence": [ { "database": "Reactome", "id": "R-HSA-201681", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-201681" } ], "reference": [ { "type": "PubMed", "id": "11357136", "url": "https://glygen.org/publication/PubMed/11357136" } ] }, { "title": "The sequence and gene characterization of a 400-kb candidate region for IDDM4 on chromosome 11q13.", "journal": "Genomics", "date": "2001", "authors": "Twells R C, Metzker M L, Brown S D, Cox R, Garey C, Hammond H, Hey P J, Levy E, Nakagawa Y, Philips M S, Todd J A, Hess J F", "evidence": [ { "database": "UniProtKB", "id": "O75197", "url": "https://www.uniprot.org/uniprot/O75197" } ], "reference": [ { "type": "PubMed", "id": "11401438", "url": "https://glygen.org/publication/PubMed/11401438" } ] }, { "title": "Novel mechanism of Wnt signalling inhibition mediated by Dickkopf-1 interaction with LRP6/Arrow.", "journal": "Nature cell biology", "date": "2001", "authors": "Bafico A, Liu G, Yaniv A, Gazit A, Aaronson SA", "evidence": [ { "database": "Reactome", "id": "R-HSA-3772470", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3772470" } ], "reference": [ { "type": "PubMed", "id": "11433302", "url": "https://glygen.org/publication/PubMed/11433302" } ] }, { "title": "Head inducer Dickkopf-1 is a ligand for Wnt coreceptor LRP6.", "journal": "Current biology : CB", "date": "2001", "authors": "Semenov MV, Tamai K, Brott BK, Kuhl M, Sokol S, He X", "evidence": [ { "database": "UniProtKB", "id": "O75197", "url": "https://www.uniprot.org/uniprot/O75197" }, { "database": "Reactome", "id": "R-HSA-201681", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-201681" } ], "reference": [ { "type": "PubMed", "id": "11448771", "url": "https://glygen.org/publication/PubMed/11448771" } ] }, { "title": "Armadillo nuclear import is regulated by cytoplasmic anchor Axin and nuclear anchor dTCF/Pan.", "journal": "Development (Cambridge, England)", "date": "2001", "authors": "Tolwinski NS, Wieschaus E", "evidence": [ { "database": "Reactome", "id": "R-HSA-201681", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-201681" } ], "reference": [ { "type": "PubMed", "id": "11493532", "url": "https://glygen.org/publication/PubMed/11493532" } ] }, { "title": "Identification of the Axin and Frat binding region of glycogen synthase kinase-3.", "journal": "The Journal of biological chemistry", "date": "2002", "authors": "Fraser E, Young N, Dajani R, Franca-Koh J, Ryves J, Williams RS, Yeo M, Webster MT, Richardson C, Smalley MJ, Pearl LH, Harwood A, Dale TC", "evidence": [ { "database": "Reactome", "id": "R-HSA-4641262", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-4641262" } ], "reference": [ { "type": "PubMed", "id": "11707456", "url": "https://glygen.org/publication/PubMed/11707456" } ] }, { "title": "LDL receptor-related protein 5 (LRP5) affects bone accrual and eye development.", "journal": "Cell", "date": "2001", "authors": "Gong Y, Slee RB, Fukai N, Rawadi G, Roman-Roman S, Reginato AM, Wang H, Cundy T, Glorieux FH, Lev D, Zacharin M, Oexle K, Marcelino J, Suwairi W, Heeger S, Sabatakos G, Apte S, Adkins WN, Allgrove J, Arslan-Kirchner M, Batch JA, Beighton P, Black GC, Boles RG, Boon LM, Borrone C, Brunner HG, Carle GF, Dallapiccola B, De Paepe A, Floege B, Halfhide ML, Hall B, Hennekam RC, Hirose T, Jans A, Juppner H, Kim CA, Keppler-Noreuil K, Kohlschuetter A, LaCombe D, Lambert M, Lemyre E, Letteboer T, Peltonen L, Ramesar RS, Romanengo M, Somer H, Steichen-Gersdorf E, Steinmann B, Sullivan B, Superti-Furga A, Swoboda W, van den Boogaard MJ, Van Hul W, Vikkula M, Votruba M, Zabel B, Garcia T, Baron R, Olsen BR, Warman ML", "evidence": [ { "database": "UniProtKB", "id": "O75197", "url": "https://www.uniprot.org/uniprot/O75197" } ], "reference": [ { "type": "PubMed", "id": "11719191", "url": "https://glygen.org/publication/PubMed/11719191" } ] }, { "title": "The structure of phosphorylated GSK-3beta complexed with a peptide, FRATtide, that inhibits beta-catenin phosphorylation.", "journal": "Structure (London, England : 1993)", "date": "2001", "authors": "Bax B, Carter PS, Lewis C, Guy AR, Bridges A, Tanner R, Pettman G, Mannix C, Culbert AA, Brown MJ, Smith DG, Reith AD", "evidence": [ { "database": "Reactome", "id": "R-HSA-4641262", 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}, { "title": "Second cysteine-rich domain of Dickkopf-2 activates canonical Wnt signaling pathway via LRP-6 independently of dishevelled.", "journal": "The Journal of biological chemistry", "date": "2002", "authors": "Li L, Mao J, Sun L, Liu W, Wu D", "evidence": [ { "database": "Reactome", "id": "R-HSA-3772470", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3772470" } ], "reference": [ { "type": "PubMed", "id": "11742004", "url": "https://glygen.org/publication/PubMed/11742004" } ] }, { "title": "Glycogen synthase kinase-3 beta mutagenesis identifies a common binding domain for GBP and Axin.", "journal": "The Journal of biological chemistry", "date": "2002", "authors": "Ferkey DM, Kimelman D", "evidence": [ { "database": "Reactome", "id": "R-HSA-4641262", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-4641262" } ], "reference": [ { "type": "PubMed", "id": "11861647", "url": "https://glygen.org/publication/PubMed/11861647" } ] }, { "title": "High bone density due to a mutation in LDL-receptor-related protein 5.", "journal": "The New England journal of medicine", "date": "2002", "authors": "Boyden LM, Mao J, Belsky J, Mitzner L, Farhi A, Mitnick MA, Wu D, Insogna K, Lifton RP", "evidence": [ { "database": "UniProtKB", "id": "O75197", "url": "https://www.uniprot.org/uniprot/O75197" } ], "reference": [ { "type": "PubMed", "id": "12015390", "url": "https://glygen.org/publication/PubMed/12015390" } ] }, { "title": "Kremen proteins are Dickkopf receptors that regulate Wnt/beta-catenin signalling.", "journal": "Nature", "date": "2002", "authors": "Mao B, Wu W, Davidson G, Marhold J, Li M, Mechler BM, Delius H, Hoppe D, Stannek P, Walter C, Glinka A, Niehrs C", "evidence": [ { "database": "Reactome", "id": "R-HSA-3772470", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3772470" } ], "reference": [ { "type": "PubMed", "id": "12050670", "url": "https://glygen.org/publication/PubMed/12050670" } ] }, { "title": "Regulation of Wnt/LRP signaling by distinct domains of Dickkopf proteins.", "journal": "Molecular and cellular biology", "date": "2002", "authors": "Brott BK, Sokol SY", "evidence": [ { "database": "Reactome", "id": "R-HSA-3772470", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3772470" } ], "reference": [ { "type": "PubMed", "id": "12167704", "url": "https://glygen.org/publication/PubMed/12167704" } ] }, { "title": "Ligand receptor interactions in the Wnt signaling pathway in Drosophila.", "journal": "The Journal of biological chemistry", "date": "2002", "authors": "Wu CH, Nusse R", "evidence": [ { "database": "Reactome", "id": "R-HSA-201681", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-201681" } ], "reference": [ { "type": "PubMed", "id": "12205098", "url": "https://glygen.org/publication/PubMed/12205098" } ] }, { "title": "The ins and outs of APC and beta-catenin nuclear transport.", "journal": "EMBO reports", "date": "2002", "authors": "Henderson BR, Fagotto F", "evidence": [ { "database": 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"O75197", "url": "https://www.uniprot.org/uniprot/O75197" } ], "reference": [ { "type": "PubMed", "id": "28192794", "url": "https://glygen.org/publication/PubMed/28192794" } ] }, { "title": "Isolated polycystic liver disease genes define effectors of polycystin-1 function.", "journal": "The Journal of clinical investigation", "date": "2017", "authors": "Besse W, Dong K, Choi J, Punia S, Fedeles SV, Choi M, Gallagher AR, Huang EB, Gulati A, Knight J, Mane S, Tahvanainen E, Tahvanainen P, Sanna-Cherchi S, Lifton RP, Watnick T, Pei YP, Torres VE, Somlo S", "evidence": [ { "database": "UniProtKB", "id": "O75197", "url": "https://www.uniprot.org/uniprot/O75197" } ], "reference": [ { "type": "PubMed", "id": "28375157", "url": "https://glygen.org/publication/PubMed/28375157" } ] }, { "title": "Reanalysis of Global Proteomic and Phosphoproteomic Data Identified a Large Number of Glycopeptides.", "journal": "Analytical chemistry", "date": "2018", "authors": "Hu Y, Shah P, Clark DJ, Ao M, Zhang 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postmenopausal women.", "journal": "Journal of orthopaedic surgery and research", "date": "2023-05-18", "authors": "Li Jun, Liu Zebing, Ren Yanxia, Shao Han, Li Siyuan", "evidence": [ { "database": "RefSeq", "id": "NP_001278831", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001278831" } ], "reference": [ { "type": "PubMed", "id": "37202775", "url": "https://glygen.org/publication/PubMed/37202775" } ] }, { "title": "LRP5, SLC6A3, and SOX10 Expression in Conventional Ameloblastoma.", "journal": "Genes", "date": "2023-07-26", "authors": "Correa-Arzate Lorena, Portilla-Robertson Javier, Ram\u00edrez-Jarqu\u00edn Josu\u00e9 Orlando, Jacinto-Alem\u00e1n Luis Fernando, Mej\u00eda-Vel\u00e1zquez Claudia Patricia, Villanueva-S\u00e1nchez Francisco Germ\u00e1n, Rodr\u00edguez-V\u00e1zquez Mariana", "evidence": [ { "database": "RefSeq", "id": "NP_001278831", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001278831" } ], "reference": [ { "type": "PubMed", "id": "37628576", "url": "https://glygen.org/publication/PubMed/37628576" } ] }, { "title": "LRP5, Bone Mass Polymorphisms and Skeletal Disorders.", "journal": "Genes", "date": "2023-09-23", "authors": "Littman Jake, Yang Wentian, Olansen Jon, Phornphutkul Chanika, Aaron Roy K", "evidence": [ { "database": "RefSeq", "id": "NP_001278831", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001278831" } ], "reference": [ { "type": "PubMed", "id": "37895195", "url": "https://glygen.org/publication/PubMed/37895195" } ] }, { "title": "Genetic detection of two novel LRP5 pathogenic variants in patients with familial exudative vitreoretinopathy.", "journal": "BMC ophthalmology", "date": "2023-11-29", "authors": "Li Jiayu, Wang Chanjuan, Zhang Shaochi, Cai Bo, Pan Bo, Sun Caihong, Qi Xiaolong, Ma Chunmei, Fang Wei, Jin Kangxin, Bi Xiaojun, Jin Zibing, Zhuang Wenjuan", "evidence": [ { "database": "RefSeq", "id": "NP_001278831", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001278831" } ], "reference": [ { "type": "PubMed", "id": "38030997", "url": "https://glygen.org/publication/PubMed/38030997" } ] }, { "title": "Studying the O-GlcNAcome of human placentas using banked tissue samples.", "journal": "Glycobiology", "date": "2024-01-22", "authors": "Luna Sarai, Malard Florian, Pereckas Michaela, Aoki Mayumi, Aoki Kazahiro, Olivier-Van Stichelen Stephanie", "evidence": [ { "database": "O-GlcNAc Database", "id": "O75197", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O75197" } ], "reference": [ { "type": "PubMed", "id": "38253038", "url": "https://glygen.org/publication/PubMed/38253038" } ] }, { "title": "Activation of a novel proto-oncogene, Frat1, contributes to progression of mouse T-cell lymphomas.", "journal": "The EMBO journal", "date": "1997", "authors": "Jonkers J, Korswagen HC, Acton D, Breuer M, Berns A", "evidence": [ { "database": "Reactome", "id": "R-HSA-4641262", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-4641262" } ], "reference": [ { "type": "PubMed", "id": 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Commun.", "date": "1998", "authors": "Dong Y, Lathrop W, Weaver D, Qiu Q, Cini J, Bertolini D, Chen D", "evidence": [ { "database": "UniProtKB", "id": "O75197", "url": "https://www.uniprot.org/uniprot/O75197" } ], "reference": [ { "type": "PubMed", "id": "9790987", "url": "https://glygen.org/publication/PubMed/9790987" } ] } ], "pathway": [ { "id": "hsa:4041", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:4041", "resource": "KEGG Pathway" }, { "id": "R-HSA-201681", "name": "TCF dependent signaling in response to WNT", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-201681", "resource": "Reactome", "description": "TCF dependent signaling in response to WNT" }, { "id": "R-HSA-3772470", "name": "Negative regulation of TCF-dependent signaling by WNT ligand antagonists", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3772470", "resource": "Reactome", "description": "Negative regulation of TCF-dependent signaling by WNT ligand antagonists" }, { 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{ "database": "UniProtKB", "id": "O75197", "url": "https://www.uniprot.org/uniprot/O75197" } ], "pmid": "" }, { "name": "cell-cell adhesion", "id": "GO:0098609", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098609", "evidence": [ { "database": "UniProtKB", "id": "O75197", "url": "https://www.uniprot.org/uniprot/O75197" } ], "pmid": "" }, { "name": "osteoblast development", "id": "GO:0002076", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002076", "evidence": [ { "database": "UniProtKB", "id": "O75197", "url": "https://www.uniprot.org/uniprot/O75197" } ], "pmid": "" }, { "name": "cholesterol homeostasis", "id": "GO:0042632", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042632", "evidence": [ { "database": "UniProtKB", "id": "O75197", "url": "https://www.uniprot.org/uniprot/O75197" } ], "pmid": "" }, { "name": "positive regulation of DNA-templated transcription", "id": "GO:0045893", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045893", "evidence": [ { "database": "UniProtKB", 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