{ "uniprot_canonical_ac": "P02458-2", "uniprot_ac": "P02458", "uniprot_id": "CO2A1_HUMAN", "mass": { "chemical_mass": 141785.0, "monoisotopic_mass": 141785.0 }, "refseq": { "ac": "NP_001835", "name": "collagen alpha-1(II) chain isoform 1 precursor", "summary": "This gene encodes the alpha-1 chain of type II collagen, a fibrillar collagen found in cartilage and the vitreous humor of the eye. Mutations in this gene are associated with achondrogenesis, chondrodysplasia, early onset familial osteoarthritis, SED congenita, Langer-Saldino achondrogenesis, Kniest dysplasia, Stickler syndrome type I, and spondyloepimetaphyseal dysplasia Strudwick type. In addition, defects in processing chondrocalcin, a calcium binding protein that is the C-propeptide of this collagen molecule, are also associated with chondrodysplasia. There are two transcripts identified for this gene. [provided by RefSeq, Jul 2008].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001835" }, "gene_names": [ { "name": "COL2A1", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P02458", "id": "P02458" }, { "name": "ANFH; AOM; COL11A3; SEDC; STL1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001835", "id": "NP_001835" }, { "name": "COL2A1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001835", "id": "NP_001835" } ], "protein_names": [ { "name": "Collagen alpha-1(II) chain", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "P02458" }, { "name": "Alpha-1 type II collagen", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P02458" }, { "name": "collagen II, alpha-1 polypeptide; cartilage collagen; chondrocalcin; collagen alpha-1(II) chain; alpha-1 type II collagen; arthroophthalmopathy, progressive (Stickler syndrome); collagen, type II, alpha 1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001835", "id": "NP_001835" }, { "name": "collagen alpha-1(II) chain isoform 1 precursor", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001835", "id": "NP_001835" } ], "function": [ { "annotation": "Characteristics of a Three-Generation Family with Stickler Syndrome Type I Carrying Two Different COL2A1 Mutations. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001835", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001835" }, { "database": "PubMed", "id": "37107605", "url": "https://glygen.org/publication/PubMed/37107605" } ] }, { "annotation": "Co-occurrence of Spondyloepiphyseal Dysplasia and X-Linked Hypophosphatemia in a Three-Generation Chinese Family.", "evidence": [ { "database": "RefSeq", "id": "NP_001835", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001835" }, { "database": "PubMed", "id": "37278761", "url": "https://glygen.org/publication/PubMed/37278761" } ] }, { "annotation": "Influence of COL2A1-G1405S polymorphism on mandibular skeletal malocclusions: A genetic association study and in silico analysis.", "evidence": [ { "database": "RefSeq", "id": "NP_001835", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001835" }, { "database": "PubMed", "id": "35810711", "url": "https://glygen.org/publication/PubMed/35810711" } ] }, { "annotation": "Natural history and genetic spectrum of the Turkish metaphyseal dysplasia cohort, including rare types caused by biallelic COL10A1, COL2A1, and LBR variants.", "evidence": [ { "database": "RefSeq", "id": "NP_001835", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001835" }, { "database": "PubMed", "id": "36400164", "url": "https://glygen.org/publication/PubMed/36400164" } ] }, { "annotation": "This gene encodes the alpha-1 chain of type II collagen, a fibrillar collagen found in cartilage and the vitreous humor of the eye. Mutations in this gene are associated with achondrogenesis, chondrodysplasia, early onset familial osteoarthritis, SED congenita, Langer-Saldino achondrogenesis, Kniest dysplasia, Stickler syndrome type I, and spondyloepimetaphyseal dysplasia Strudwick type. In addition, defects in processing chondrocalcin, a calcium binding protein that is the C-propeptide of this collagen molecule, are also associated with chondrodysplasia. There are two transcripts identified for this gene. [provided by RefSeq, Jul 2008].", "evidence": [ { "database": "RefSeq", "id": "NP_001835", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001835" } ] }, { "annotation": "Type II collagen is specific for cartilaginous tissues. It is essential for the normal embryonic development of the skeleton, for linear growth and for the ability of cartilage to resist compressive forces.", "evidence": [ { "database": "UniProtKB", "id": "P02458", "url": "https://www.uniprot.org/uniprot/P02458#function" } ] } ], "disease": [ { "disease_id": "DOID:0080028", "recommended_name": { "id": "DOID:0080028", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080028", "name": "spondyloepimetaphyseal dysplasia, Strudwick type", "description": "A spondyloepimetaphyseal dysplasia that has_material_basis_in mutations in the COL2A1 gene which results_in short stature and multiple skeletal abnormalities (lordosis, scoliosis, flattened vertebrae, pectus carinatum, coxa vara, clubfoot, and abnormal epiphyses or metaphyses)." }, "synonyms": [ { "id": "MONDO:0008476", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008476", "name": "spondyloepimetaphyseal dysplasia, Strudwick type", "description": "A spondyloepimetaphyseal dysplasia characterized by disproportionate short stature from birth (with a very short trunk and shortened limbs) and skeletal abnormalities (lordosis, scoliosis, flattened vertebrae, pectus carinatum, coxa vara, clubfoot, and abnormal epiphyses or metaphyses)." }, { "id": "MONDO:0008476", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008476", "name": "spondyloepimetaphyseal dysplasia, Strudwick type", "description": "" }, { "id": "MONDO:0008476", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008476", "name": "SEMD, Strudwick type", "description": "" }, { "id": "MONDO:0008476", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008476", "name": "SEMDSTWK", "description": "" }, { "id": "MONDO:0008476", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008476", "name": "SMED Strudwick type", "description": "" }, { "id": "MONDO:0008476", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008476", "name": "SMED type 1", "description": "" }, { "id": "MONDO:0008476", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008476", "name": "Semdc", "description": "" }, { "id": "MONDO:0008476", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008476", "name": "SmD", "description": "" }, { "id": "MONDO:0008476", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008476", "name": "Smed, Strudwick type", "description": "" }, { "id": "MONDO:0008476", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008476", "name": "Smed, type 1", "description": "" }, { "id": "MONDO:0008476", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008476", "name": "Strudwick syndrome", "description": "" }, { "id": "MONDO:0008476", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008476", "name": "dappled metaphysis syndrome", "description": "" }, { "id": "MONDO:0008476", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008476", "name": "spondyloepimetaphyseal dysplasia Strudwick type", "description": "" }, { "id": "MONDO:0008476", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008476", "name": "spondyloepimetaphyseal dysplasia congenita, Strudwick type", "description": "" }, { "id": "MONDO:0008476", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008476", "name": "spondylometaepiphyseal dysplasia congenita, Strudwick type", "description": "" }, { "id": "MONDO:0008476", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008476", "name": "spondylometaphyseal dysplasia", "description": "" }, { "id": "MIM:184250", "resource": "MIM", "url": "https://www.omim.org/entry/184250", "name": "Spondyloepimetaphyseal dysplasia, Strudwick type", "description": "Spondyloepimetaphyseal dysplasia, Strudwick type" } ], "evidence": [ { "id": "184250", "database": "MIM", "url": "https://www.omim.org/entry/184250" } ] }, { "disease_id": "DOID:0080045", "recommended_name": { "id": "DOID:0080045", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080045", "name": "Kniest dysplasia", "description": "An osteochondrodysplasia that has_material_basis_in a mutation in the COL2A1 gene which results_in dwarfism with a short trunk and limbs as well as vision and hearing problems. The disease has_symptom large joints, has_symptom wide set eyes, has_symptom round flat face." }, "synonyms": [ { "id": "MONDO:0007987", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007987", "name": "Kniest dysplasia", "description": "Kniest dysplasia is a severe type II collagenopathy characterized by a short trunk and limbs, prominent joints and midface hypoplasia (round face with a flat nasal root)." }, { "id": "MONDO:0007987", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007987", "name": "Kniest dysplasia", "description": "" }, { "id": "MIM:156550", "resource": "MIM", "url": "https://www.omim.org/entry/156550", "name": "Kniest dysplasia", "description": "Kniest dysplasia" } ], "evidence": [ { "id": "156550", "database": "MIM", "url": "https://www.omim.org/entry/156550" } ] }, { "disease_id": "DOID:0080046", "recommended_name": { "id": "DOID:0080046", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080046", "name": "Stickler syndrome", "description": "A syndrome that is characterized by a distinctive facial appearance, eye abnormalities, hearing loss, and joint problems." }, "synonyms": [ { "id": "MONDO:0007160", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007160", "name": "Stickler syndrome type 1", "description": "" }, { "id": "MONDO:0007160", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007160", "name": "Stickler syndrome type 1", "description": "" }, { "id": "MONDO:0007160", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007160", "name": "STL1", "description": "" }, { "id": "MONDO:0007160", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007160", "name": "Stickler syndrome, membranous vitreous type", "description": "" }, { "id": "MONDO:0007160", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007160", "name": "Stickler syndrome, type 1", "description": "" }, { "id": "MONDO:0007160", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007160", "name": "Stickler syndrome, type I", "description": "" }, { "id": "MONDO:0007160", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007160", "name": "Stickler syndrome, vitreous type 1", "description": "" }, { "id": "MONDO:0007160", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007160", "name": "arthroophthalmopathy, hereditary progressive", "description": "" }, { "id": "MIM:108300", "resource": "MIM", "url": "https://www.omim.org/entry/108300", "name": "Stickler syndrome 1", "description": "Stickler syndrome 1" } ], "evidence": [ { "id": "108300", "database": "MIM", "url": "https://www.omim.org/entry/108300" } ] }, { "disease_id": "DOID:0080056", "recommended_name": { "id": "DOID:0080056", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080056", "name": "achondrogenesis type II", "description": "An achondrogenesis that has_material_basis_in mutations in the COL2A1 gene which results_in underdeveloped lungs, hydrops fetalis, a prominent forehead and abnormal ossification of the located_in vertebral column or located_in pelvis." }, "synonyms": [ { "id": "MONDO:0008702", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008702", "name": "achondrogenesis type II", "description": "Achondrogenesis type 2 (ACG2), a form of achondrogenesis, is a very rare and lethal skeletal dysplasia and part of the spectrum of type 2 collagen-related bone disorders, characterizedby severe micromelia, short neck with large head, small thorax, protuberant abdomen, underdeveloped lungs, distinctive facial features such as a prominent forehead, a small chin, a cleft palate (in some) and distinctive histological features of the cartilage." }, { "id": "MONDO:0008702", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008702", "name": "achondrogenesis type II", "description": "" }, { "id": "MONDO:0008702", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008702", "name": "achondrogenesis, Langer-Saldino type", "description": "" }, { "id": "MONDO:0008702", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008702", "name": "achondrogenesis, type II or hypochondrogenesis", "description": "" }, { "id": "MONDO:0008702", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008702", "name": "ACG2", "description": "" }, { "id": "MONDO:0008702", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008702", "name": "achondrogenesis type 2", "description": "" }, { "id": "MONDO:0008702", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008702", "name": "achondrogenesis, type 2", "description": "" }, { "id": "MONDO:0008702", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008702", "name": "achondrogenesis, type IB", "description": "" }, { "id": "MONDO:0008702", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008702", "name": "achondrogenesis, type IB, formerly", "description": "" }, { "id": "MONDO:0008702", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008702", "name": "achondrogenesis, type II", "description": "" }, { "id": "MONDO:0008702", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008702", "name": "chondrogenesis imperfecta", "description": "" }, { "id": "MONDO:0008702", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008702", "name": "hypochondrogenesis", "description": "" }, { "id": "MIM:200610", "resource": "MIM", "url": "https://www.omim.org/entry/200610", "name": "Achondrogenesis 2", "description": "Achondrogenesis 2" } ], "evidence": [ { "id": "200610", "database": "MIM", "url": "https://www.omim.org/entry/200610" } ] }, { "disease_id": "DOID:0080676", "recommended_name": { "id": "DOID:0080676", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080676", "name": "Stickler syndrome 1", "description": "A Stickler syndrome that has_material_basis_in heterozygous mutation in the COL2A1 gene on chromosome 12q13." }, "synonyms": [ { "id": "MONDO:0007160", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007160", "name": "Stickler syndrome type 1", "description": "" }, { "id": "MONDO:0007160", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007160", "name": "Stickler syndrome type 1", "description": "" }, { "id": "MONDO:0007160", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007160", "name": "STL1", "description": "" }, { "id": "MONDO:0007160", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007160", "name": "Stickler syndrome, membranous vitreous type", "description": "" }, { "id": "MONDO:0007160", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007160", "name": "Stickler syndrome, type 1", "description": "" }, { "id": "MONDO:0007160", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007160", "name": "Stickler syndrome, type I", "description": "" }, { "id": "MONDO:0007160", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007160", "name": "Stickler syndrome, vitreous type 1", "description": "" }, { "id": "MONDO:0007160", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007160", "name": "arthroophthalmopathy, hereditary progressive", "description": "" }, { "id": "MIM:108300", "resource": "MIM", "url": "https://www.omim.org/entry/108300", "name": "Stickler syndrome 1", "description": "Stickler syndrome 1" } ], "evidence": [ { "id": "108300", "database": "MIM", "url": "https://www.omim.org/entry/108300" } ] }, { "disease_id": "DOID:0111348", "recommended_name": { "id": "DOID:0111348", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111348", "name": "multiple epiphyseal dysplasia with myopia and deafness", "description": "A syndrome characterized by typically mild epiphyseal dysplasia, progessive myopia, retinal thinning, crenated cataracts, conductive deafness and brachydactyly that has_material_basis_in heterozygous mutation in the COL2A1 gene on chromosome 12q13.11." }, "synonyms": [ { "id": "DOID:0111348", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111348", "name": "multiple epiphyseal dysplasia-myopia-deafness syndrome", "description": "" }, { "id": "DOID:0111348", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111348", "name": "EDMMD", "description": "" }, { "id": "DOID:0111348", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111348", "name": "multiple epiphyseal dysplasia, Beighton type", "description": "" }, { "id": "MONDO:0007562", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007562", "name": "multiple epiphyseal dysplasia, Beighton type", "description": "Multiple epiphyseal dysplasia, Beighton type is a skeletal dysplasia characterized by epiphyseal dysplasia (usually mild) associated with progressive myopia, retinal thinning, crenated cataracts, conductive deafness, and stubby digits." }, { "id": "MONDO:0007562", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007562", "name": "epiphyseal dysplasia, multiple, with myopia and deafness", "description": "" }, { "id": "MONDO:0007562", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007562", "name": "multiple epiphyseal dysplasia-myopia-deafness syndrome", "description": "" }, { "id": "MONDO:0007562", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007562", "name": "EDMMD", "description": "" }, { "id": "MONDO:0007562", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007562", "name": "epiphyseal dysplasia, multiple, with myopia and conductive deafness", "description": "" }, { "id": "MIM:132450", "resource": "MIM", "url": "https://www.omim.org/entry/132450", "name": "Multiple epiphyseal dysplasia with myopia and conductive deafness", "description": "Multiple epiphyseal dysplasia with myopia and conductive deafness" } ], "evidence": [ { "id": "132450", "database": "MIM", "url": "https://www.omim.org/entry/132450" } ] }, { "disease_id": "DOID:0111508", "recommended_name": { "id": "DOID:0111508", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111508", "name": "Torrance type platyspondylic dysplasia", "description": "An osteochondrodysplasia characterized by decreased ossification of the skull base, disc-like platyspondyly, short thin ribs, hypoplastic pelvis with wide sacrosciatic notches and flat acetabular roof, and short tubular long bones with metaphyseal cupping that has_material_basis_in heterozygous mutation in the COL2A1 gene on chromosome 12q13.11." }, "synonyms": [ { "id": "DOID:0111508", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111508", "name": "PLSD-T", "description": "" }, { "id": "DOID:0111508", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111508", "name": "PLSDT", "description": "" }, { "id": "DOID:0111508", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111508", "name": "platyspondylic lethal skeletal dysplasia, Torrance type", "description": "" }, { "id": "DOID:0111508", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111508", "name": "platyspondylic dysplasia, Torrance-Luton type", "description": "" }, { "id": "DOID:0111508", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111508", "name": "thanatophoric dysplasia, Torrance variant", "description": "" }, { "id": "DOID:0111508", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111508", "name": "lethal short-limbed platyspondylic dwarfism, Torrance type", "description": "" }, { "id": "MONDO:0007895", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007895", "name": "platyspondylic dysplasia, Torrance type", "description": "" }, { "id": "MONDO:0007895", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007895", "name": "PLSD-T", "description": "" }, { "id": "MONDO:0007895", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007895", "name": "Platyspondylic dysplasia, Torrance-Luton type", "description": "" }, { "id": "MONDO:0007895", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007895", "name": "Platyspondylic lethal skeletal dysplasia, Torrance type", "description": "" }, { "id": "MONDO:0007895", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007895", "name": "platyspondylic dysplasia, Torrance type", "description": "" }, { "id": "MONDO:0007895", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007895", "name": "platyspondylic skeletal dysplasia, Torrance type", "description": "" }, { "id": "MONDO:0007895", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007895", "name": "PLSDT", "description": "" }, { "id": "MONDO:0007895", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007895", "name": "Platyspondylic lethal skeletal dysplasia Torrance type", "description": "" }, { "id": "MONDO:0007895", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007895", "name": "Platyspondylic lethal skeletal dysplasia, Luton type", "description": "" }, { "id": "MONDO:0007895", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007895", "name": "lethal short-limbed Platyspondylic dwarfism Torrance type", "description": "" }, { "id": "MONDO:0007895", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007895", "name": "lethal short-limbed Platyspondylic dwarfism, Torrance type", "description": "" }, { "id": "MONDO:0007895", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007895", "name": "thanatophoric dysplasia Torrance variant", "description": "" }, { "id": "MONDO:0007895", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007895", "name": "thanatophoric dysplasia, Luton variant", "description": "" }, { "id": "MONDO:0007895", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007895", "name": "thanatophoric dysplasia, Torrance variant", "description": "" }, { "id": "MIM:151210", "resource": "MIM", "url": "https://www.omim.org/entry/151210", "name": "Platyspondylic lethal skeletal dysplasia Torrance type", "description": "Platyspondylic lethal skeletal dysplasia Torrance type" } ], "evidence": [ { "id": "151210", "database": "MIM", "url": "https://www.omim.org/entry/151210" } ] }, { "disease_id": "DOID:0112195", "recommended_name": { "id": "DOID:0112195", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0112195", "name": "spondyloperipheral dysplasia", "description": "An osteochondrodysplasia characterized by platyspondyly, brachydactyly type E changes, bilateral short ulnae, and mild short stature that has_material_basis_in heterozygous mutation in the COL2A1 gene on chromosome 12q13.11." }, "synonyms": [ { "id": "DOID:0112195", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0112195", "name": "spondyloperipheral dysplasia-short ulna syndrome", "description": "" }, { "id": "MONDO:0010078", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010078", "name": "spondyloperipheral dysplasia", "description": "A condition caused by by truncating mutations in the C-propeptide of COL2A1. Like other type II collagen disorders it is characterized by short stature, platyspondyly and epiphyseal dysplasia. A distinguishing feature is the presence of brachydactyly with a prominent first toe." }, { "id": "MONDO:0010078", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010078", "name": "spondyloperipheral dysplasia", "description": "" }, { "id": "MONDO:0010078", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010078", "name": "spondyloperipheral dysplasia-short ulna syndrome", "description": "" }, { "id": "MONDO:0010078", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010078", "name": "spondyloperipheral dysplasia with short ulna", "description": "" }, { "id": "MIM:271700", "resource": "MIM", "url": "https://www.omim.org/entry/271700", "name": "Spondyloperipheral dysplasia", "description": "Spondyloperipheral dysplasia" } ], "evidence": [ { "id": "271700", "database": "MIM", "url": "https://www.omim.org/entry/271700" } ] }, { "disease_id": "DOID:0112281", "recommended_name": { "id": "DOID:0112281", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0112281", "name": "spondyloepiphyseal dysplasia Stanescu type", "description": "A spondyloepiphyseal dysplasia characterized by accumulation of glycoprotein in chondrocytes, progressive joint contracture with premature degenerative joint disease, generalized platyspondyly, hypoplastic pelvis, epiphyseal flattening with metaphyseal splaying of the long bones, and enlarged phalangeal epimetaphyses of the hands that has_material_basis_in heterozygous mutation in COL2A1 on chromosome 12q13.11." }, "synonyms": [ { "id": "DOID:0112281", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0112281", "name": "SEDSTN", "description": "" }, { "id": "DOID:0112281", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0112281", "name": "SED Stanescu type", "description": "" }, { "id": "MONDO:0014701", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014701", "name": "spondyloepiphyseal dysplasia, Stanescu type", "description": "" }, { "id": "MONDO:0014701", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014701", "name": "SED, Stanescu type", "description": "" }, { "id": "MONDO:0014701", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014701", "name": "SEDSTN", "description": "" }, { "id": "MONDO:0014701", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014701", "name": "spondyloepiphyseal dysplasia, Stanescu type", "description": "" }, { "id": "MIM:616583", "resource": "MIM", "url": "https://www.omim.org/entry/616583", "name": "Spondyloepiphyseal dysplasia, Stanescu type", "description": "Spondyloepiphyseal dysplasia, Stanescu type" } ], "evidence": [ { "id": "616583", "database": "MIM", "url": "https://www.omim.org/entry/616583" } ] }, { "disease_id": "DOID:14415", "recommended_name": { "id": "DOID:14415", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14415", "name": "Legg-Calve-Perthes disease", "description": "An osteochondrosis that results_in death and fracture located_in hip joint." }, "synonyms": [ { "id": "DOID:14415", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14415", "name": "Calve - Perthes' disease", "description": "" }, { "id": "DOID:14415", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14415", "name": "Coxa plana", "description": "" }, { "id": "DOID:14415", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14415", "name": "Juvenile osteochond-hip/pelvis", "description": "" }, { "id": "DOID:14415", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14415", "name": "Juvenile osteochondrosis of hip and/or pelvis", "description": "" }, { "id": "DOID:14415", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14415", "name": "Perthe's disease", "description": "" }, { "id": "DOID:14415", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14415", "name": "Perthes disease", "description": "" }, { "id": "DOID:14415", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14415", "name": "juvenile osteochondrosis of hip and pelvis", "description": "" }, { "id": "DOID:14415", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14415", "name": "osteochondrosis of Legg-Calve-Perthes", "description": "" }, { "id": "DOID:14415", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14415", "name": "pseudocoxalgia", "description": "" }, { "id": "MONDO:0007885", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007885", "name": "Legg-Calve-Perthes disease", "description": "A hip region disease that is characterized by uni- or bilateral avascular necrosis (AVN) of the femoral head in children. In a small percentage of cases, mutations in the COL2A1 gene were found to be responsible." }, { "id": "MONDO:0007885", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007885", "name": "Calve - Perthes' disease", "description": "" }, { "id": "MONDO:0007885", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007885", "name": "Legg-Calve-Perthes disease", "description": "" }, { "id": "MONDO:0007885", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007885", "name": "Osteochondrosis of the capital femoral epiphysis", "description": "" }, { "id": "MONDO:0007885", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007885", "name": "Perthe's disease", "description": "" }, { "id": "MONDO:0007885", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007885", "name": "Perthes disease", "description": "" }, { "id": "MONDO:0007885", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007885", "name": "Pseudocoxalgia", "description": "" }, { "id": "MONDO:0007885", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007885", "name": "aseptic necrosis of the capital femoral epiphysis", "description": "" }, { "id": "MONDO:0007885", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007885", "name": "coxa plana", "description": "" }, { "id": "MONDO:0007885", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007885", "name": "juvenile osteochond-hip/pelvis", "description": "" }, { "id": "MONDO:0007885", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007885", "name": "juvenile osteochondrosis of hip and pelvis", "description": "" }, { "id": "MONDO:0007885", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007885", "name": "juvenile osteochondrosis of hip and/or pelvis", "description": "" }, { "id": "MONDO:0007885", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007885", "name": "osteochondritis of the capital femoral epiphysis", "description": "" }, { "id": "MONDO:0007885", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007885", "name": "osteochondrosis of Legg-Calve-Perthes", "description": "" }, { "id": "MONDO:0007885", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007885", "name": "pseudocoxalgia", "description": "" }, { "id": "MONDO:0007885", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007885", "name": "LCPD", "description": "" }, { "id": "MONDO:0007885", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007885", "name": "Lcp", "description": "" }, { "id": "MONDO:0007885", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007885", "name": "Legg-CALVE-Perthes disease", "description": "" }, { "id": "MONDO:0007885", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007885", "name": "Legg-Calve-Perthes symptom", "description": "" }, { "id": "MONDO:0007885", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007885", "name": "Legg-Calve-Perthes syndrome", "description": "" }, { "id": "MONDO:0007885", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007885", "name": "Legg-Calv-Perthes disease", "description": "" }, { "id": "MONDO:0007885", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007885", "name": "Legg-Perthes disease", "description": "" }, { "id": "MONDO:0007885", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007885", "name": "osteochondritis deformans", "description": "" }, { "id": "MIM:150600", "resource": "MIM", "url": "https://www.omim.org/entry/150600", "name": "Legg-Calve-Perthes disease", "description": "Legg-Calve-Perthes disease" } ], "evidence": [ { "id": "150600", "database": "MIM", "url": "https://www.omim.org/entry/150600" } ] }, { "disease_id": "DOID:14789", "recommended_name": { "id": "DOID:14789", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14789", "name": "spondyloepiphyseal dysplasia congenita", "description": "A spondyloepiphyseal dysplasia characterized by disproportionate short stature (short trunk), abnormal epiphyses, and flattened vertebral bodies that has_material_basis_in heterozygous mutation in the COL2A1 gene on chromosome 12q13.11." }, "synonyms": [ { "id": "DOID:14789", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14789", "name": "Late Spondyloepiphyseal Dysplasia", "description": "" }, { "id": "MONDO:0008471", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008471", "name": "spondyloepiphyseal dysplasia congenita", "description": "A chondrodysplasia characterized by disproportionate short stature, abnormal epiphyses and flattened vertebral bodies." }, { "id": "MONDO:0008471", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008471", "name": "SED congenita", "description": "" }, { "id": "MONDO:0008471", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008471", "name": "SEDC", "description": "" }, { "id": "MONDO:0008471", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008471", "name": "Spranger-Wiedemann disease", "description": "" }, { "id": "MONDO:0008471", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008471", "name": "spondyloepiphyseal dysplasia congenita", "description": "" }, { "id": "MONDO:0008471", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008471", "name": "spondyloepiphyseal dysplasia, congenital type", "description": "" }, { "id": "MONDO:0008471", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008471", "name": "congenital spondyloepiphyseal dysplasia", "description": "" }, { "id": "MIM:183900", "resource": "MIM", "url": "https://www.omim.org/entry/183900", "name": "Spondyloepiphyseal dysplasia congenital type", "description": "Spondyloepiphyseal dysplasia congenital type" } ], "evidence": [ { "id": "183900", "database": "MIM", "url": "https://www.omim.org/entry/183900" } ] }, { "disease_id": "MONDO:0011496", "recommended_name": { "id": "MONDO:0011496", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011496", "name": "mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis", "description": "Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis is a type 2 collagen-related bone disorder characterized by precocious, generalized osteoarthritis (with onset as early as childhood) and mild, dysplastic spinal changes (flattening of vertebrae, irregular endplates and wedge-shaped deformities) resulting in a mildly short trunk." }, "synonyms": [ { "id": "MONDO:0011496", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011496", "name": "Namaqualand hip dysplasia", "description": "" }, { "id": "MONDO:0011496", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011496", "name": "OSCDP", "description": "" }, { "id": "MONDO:0011496", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011496", "name": "osteoarthritis with mild chondrodysplasia", "description": "" }, { "id": "MIM:604864", "resource": "MIM", "url": "https://www.omim.org/entry/604864", "name": "Osteoarthritis with mild chondrodysplasia", "description": "Osteoarthritis with mild chondrodysplasia" } ], "evidence": [ { "id": "604864", "database": "MIM", "url": "https://www.omim.org/entry/604864" } ] }, { "disease_id": "MONDO:0012206", "recommended_name": { "id": "MONDO:0012206", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012206", "name": "Czech dysplasia, metatarsal type", "description": "Czech dysplasia, metatarsal type is a form of skeletal dysplasia characterized by severe arthropathy beginning in childhood and hypoplasia/dysplasia of the third, fourth and/or fifth toes." }, "synonyms": [ { "id": "MONDO:0012206", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012206", "name": "Czech dysplasia, metatarsal type", "description": "" }, { "id": "MONDO:0012206", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012206", "name": "Czech dysplasia", "description": "" }, { "id": "MONDO:0012206", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012206", "name": "Czech dysplasia metatarsal type", "description": "" }, { "id": "MONDO:0012206", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012206", "name": "pseudorheumatoid dysplasia progressive, with hypoplastic toes", "description": "" }, { "id": "MONDO:0012206", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012206", "name": "pseudorheumatoid dysplasia, progressive, with hypoplastic toes", "description": "" }, { "id": "MONDO:0012206", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012206", "name": "spondyloepiphyseal dysplasia with precocious osteoarthritis", "description": "" }, { "id": "MIM:609162", "resource": "MIM", "url": "https://www.omim.org/entry/609162", "name": "Czech dysplasia", "description": "Czech dysplasia" } ], "evidence": [ { "id": "609162", "database": "MIM", "url": "https://www.omim.org/entry/609162" } ] }, { "disease_id": "MONDO:0012287", "recommended_name": { "id": "MONDO:0012287", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012287", "name": "Stickler syndrome, type I, nonsyndromic ocular", "description": "" }, "synonyms": [ { "id": "MONDO:0012287", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012287", "name": "Stickler syndrome, type i, nonsyndromic ocular", "description": "" }, { "id": "MONDO:0012287", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012287", "name": "Stickler syndrome, atypical", "description": "" }, { "id": "MONDO:0012287", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012287", "name": "Stickler syndrome, type I, predominantly ocular", "description": "" }, { "id": "MONDO:0012287", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012287", "name": "rhegmatogenous retinal detachment, autosomal dominant", "description": "" }, { "id": "MIM:609508", "resource": "MIM", "url": "https://www.omim.org/entry/609508", "name": "Rhegmatogenous retinal detachment autosomal dominant", "description": "Rhegmatogenous retinal detachment autosomal dominant" } ], "evidence": [ { "id": "609508", "database": "MIM", "url": "https://www.omim.org/entry/609508" } ] }, { "disease_id": "MONDO:0031001", "recommended_name": { "id": "MONDO:0031001", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0031001", "name": "vitreoretinopathy with phalangeal epiphyseal dysplasia", "description": "" }, "synonyms": [ { "id": "MONDO:0031001", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0031001", "name": "VPED", "description": "" }, { "id": "MIM:619248", "resource": "MIM", "url": "https://www.omim.org/entry/619248", "name": "Vitreoretinopathy with phalangeal epiphyseal dysplasia", "description": "Vitreoretinopathy with phalangeal epiphyseal dysplasia" } ], "evidence": [ { "id": "619248", "database": "MIM", "url": "https://www.omim.org/entry/619248" } ] }, { "disease_id": "MONDO:0054550", "recommended_name": { "id": "MONDO:0054550", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0054550", "name": "avascular necrosis of femoral head, primary, 1", "description": "" }, "synonyms": [ { "id": "MONDO:0054550", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0054550", "name": "avascular necrosis of femoral head, primary, 1", "description": "" }, { "id": "MONDO:0054550", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0054550", "name": "avascular necrosis of the femoral head", "description": "" }, { "id": "MONDO:0054550", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0054550", "name": "ANFH1", "description": "" }, { "id": "MONDO:0054550", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0054550", "name": "Femoral head, avascular necrosis of", "description": "" }, { "id": "MONDO:0054550", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0054550", "name": "femoral head, aseptic necrosis of", "description": "" }, { "id": "MONDO:0054550", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0054550", "name": "ischaemic necrosis of femoral head", "description": "" }, { "id": "MONDO:0054550", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0054550", "name": "ischemic necrosis of femoral head", "description": "" }, { "id": "MONDO:0054550", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0054550", "name": "osteonecrosis of femoral head", "description": "" }, { "id": "MIM:608805", "resource": "MIM", "url": "https://www.omim.org/entry/608805", "name": "Avascular necrosis of femoral head, primary, 1", "description": "Avascular necrosis of femoral head, primary, 1" } ], "evidence": [ { "id": "608805", "database": "MIM", "url": "https://www.omim.org/entry/608805" } ] } ], "snv": [ { "evidence": [ { "id": "P02458", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P02458" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 1130, "end_pos": 1130, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "K", "sequence_mut": "N", "comment": "Somatic mutation passed 1 out of 6 filters: o-glyco-site-loss (K->N).", "chr_id": "12", "chr_pos": "47976857", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "K1130", "disease": [ { "disease_id": "DOID:1319", "recommended_name": { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "brain cancer", "description": "A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain." }, "synonyms": [ { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "BT - Brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "adult brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "adult malignant brain neoplasm", "description": 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"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", 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"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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"10.1007/s00018-021-03863-1", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1007/s00018-021-03863-1" } ] }, { "glytoucan_ac": "G62765YT", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "high-energy collision-induced dissociation", "start_pos": 1388, "start_aa": "Asn", "end_pos": 1388, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1388", "evidence": [ { "id": "P02458", "database": "UniCarbKB", "url": "" }, { "id": "34089345", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34089345" }, { "id": "10.1007/s00018-021-03863-1", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1007/s00018-021-03863-1" } ] }, { "glytoucan_ac": "G64527OM", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 1388, "start_aa": "Asn", "end_pos": 1388, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1388", "evidence": [ { "id": "1126", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1126" }, { "id": "29741879", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29741879" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 1388, "start_aa": "Asn", "end_pos": 1388, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1388", "evidence": [ { "id": "P02458", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P02458#ptm_processing" }, { "id": "24190977", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/24190977" }, { "id": "GLY_000143", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000143" }, { "id": "23090970", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23090970" } ] }, { "glytoucan_ac": "", "type": "O-linked", "subtype": "O-galactosylation", "site_category": "predicted", "site_seq": "K", "relation": "attached", "comment": "O-linked (Gal...) hydroxylysine O-galactosylation", "start_pos": 190, "start_aa": "Lys", "end_pos": 190, "end_aa": "Lys", "residue": "Lys", "site_lbl": "Lys190", "evidence": [ { "id": "P02458", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P02458#ptm_processing" } ] }, { "glytoucan_ac": "", "type": "O-linked", "subtype": "O-galactosylation", "site_category": "predicted", "site_seq": "K", "relation": "attached", "comment": "O-linked (Gal...) hydroxylysine O-galactosylation", "start_pos": 287, "start_aa": "Lys", "end_pos": 287, "end_aa": "Lys", "residue": "Lys", "site_lbl": "Lys287", "evidence": [ { "id": "P02458", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P02458#ptm_processing" } ] }, { "glytoucan_ac": "", "type": "O-linked", "subtype": "O-galactosylation", "site_category": "predicted", "site_seq": "K", "relation": "attached", "comment": "O-linked (Gal...) hydroxylysine O-galactosylation", "start_pos": 299, "start_aa": "Lys", "end_pos": 299, "end_aa": "Lys", "residue": "Lys", "site_lbl": "Lys299", "evidence": [ { "id": "P02458", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P02458#ptm_processing" } ] }, { "glytoucan_ac": "", "type": "O-linked", "subtype": "O-galactosylation", "site_category": "predicted", "site_seq": "K", "relation": "attached", "comment": "O-linked (Gal...) hydroxylysine O-galactosylation", "start_pos": 308, "start_aa": "Lys", "end_pos": 308, "end_aa": "Lys", "residue": "Lys", "site_lbl": "Lys308", "evidence": [ { "id": "P02458", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P02458#ptm_processing" } ] }, { "glytoucan_ac": "", "type": "O-linked", "subtype": "O-galactosylation", "site_category": "predicted", "site_seq": "K", "relation": "attached", "comment": "O-linked (Gal...) hydroxylysine O-galactosylation", "start_pos": 374, "start_aa": "Lys", "end_pos": 374, "end_aa": "Lys", "residue": "Lys", "site_lbl": "Lys374", "evidence": [ { "id": "P02458", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P02458#ptm_processing" } ] }, { "glytoucan_ac": "", "type": "O-linked", "subtype": "O-galactosylation", "site_category": "predicted", "site_seq": "K", "relation": "attached", "comment": "O-linked (Gal...) hydroxylysine O-galactosylation", "start_pos": 608, "start_aa": "Lys", "end_pos": 608, "end_aa": "Lys", "residue": "Lys", "site_lbl": "Lys608", "evidence": [ { "id": "P02458", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P02458#ptm_processing" } ] }, { "glytoucan_ac": "", "type": "O-linked", "subtype": "O-galactosylation", "site_category": "predicted", "site_seq": "K", "relation": "attached", "comment": "O-linked (Gal...) hydroxylysine O-galactosylation", "start_pos": 620, "start_aa": "Lys", "end_pos": 620, "end_aa": "Lys", "residue": "Lys", "site_lbl": "Lys620", "evidence": [ { "id": "P02458", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P02458#ptm_processing" } ] }, { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 788, "start_aa": "Thr", "end_pos": 788, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr788", "evidence": [ { "id": "P02458", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P02458" }, { "id": "38253038", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/38253038" } ] }, { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 814, "start_aa": "Ser", "end_pos": 814, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser814", "evidence": [ { "id": "P02458", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P02458" }, { "id": "38253038", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/38253038" } ] } ], "phosphorylation": [], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_reported_with_glycan", "glycoprotein_predicted", "glycoprotein_reported" ], "publication": [ { "title": "Tumor cells express pauci- and oligomannosidic N-glycans in glycoproteins recognized by the mannose receptor (CD206)", "journal": "Cell Mol Life Sci", "date": "2021", "authors": "Stavenhagen K., Laan L.C., Gao C., Mehta A.Y., Heimburg-Molinaro J., Glickman J.N., van Die I., Cummings R.D.", "evidence": [ { "database": "UniCarbKB", "id": "P02458", "url": "" } ], "reference": [ { "type": "DOI", "id": "10.1007/s00018-021-03863-1", "url": "https://glygen.org/publication/DOI/10.1007/s00018-021-03863-1" } ] }, { "title": "Binding of the G domains of laminin alpha1 and alpha2 chains and perlecan to heparin, sulfatides, alpha-dystroglycan and several extracellular matrix proteins.", "journal": "The EMBO journal", "date": "1999", "authors": "Talts JF, Andac Z, Gohring W, Brancaccio A, Timpl R", "evidence": [ { "database": "Reactome", "id": "R-HSA-3000178", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3000178" } ], "reference": [ { "type": "PubMed", "id": "10022829", "url": "https://glygen.org/publication/PubMed/10022829" } ] }, { "title": "Antiangiogenic activity of restin, NC10 domain of human collagen XV: comparison to endostatin.", "journal": "Biochemical and biophysical research communications", "date": "1999", "authors": "Ramchandran R, Dhanabal M, Volk R, Waterman MJ, Segal M, Lu H, Knebelmann B, Sukhatme VP", "evidence": [ { "database": "Reactome", "id": "R-HSA-1442490", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1442490" } ], "reference": [ { "type": "PubMed", "id": "10049780", "url": "https://glygen.org/publication/PubMed/10049780" } ] }, { "title": "The integrin alpha9beta1 mediates adhesion to activated endothelial cells and transendothelial neutrophil migration through interaction with vascular cell adhesion molecule-1.", "journal": "The Journal of cell biology", "date": "1999", "authors": "Taooka Y, Chen J, Yednock T, Sheppard D", "evidence": [ { "database": "Reactome", "id": "R-HSA-216083", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-216083" } ], "reference": [ { "type": "PubMed", "id": "10209034", "url": "https://glygen.org/publication/PubMed/10209034" } ] }, { "title": "Agrin in Alzheimer's disease: altered solubility and abnormal distribution within microvasculature and brain parenchyma.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1999", "authors": "Donahue JE, Berzin TM, Rafii MS, Glass DJ, Yancopoulos GD, Fallon JR, Stopa EG", "evidence": [ { "database": "Reactome", "id": "R-HSA-3000178", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3000178" } ], "reference": [ { "type": "PubMed", "id": "10339611", "url": "https://glygen.org/publication/PubMed/10339611" } ] }, { "title": "Alpha 2 beta 1 integrin mediates dermal fibroblast attachment to type VII collagen via a 158-amino-acid segment of the NC1 domain.", "journal": "Experimental cell research", "date": "1999", "authors": "Chen M, O'Toole EA, Li YY, Woodley DT", "evidence": [ { "database": "Reactome", "id": "R-HSA-216083", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-216083" } ], "reference": [ { "type": "PubMed", "id": "10366422", "url": "https://glygen.org/publication/PubMed/10366422" } ] }, { "title": "The leukocyte integrin alpha D beta 2 binds VCAM-1: evidence for a binding interface between I domain and VCAM-1.", "journal": "Journal of immunology (Baltimore, Md. : 1950)", "date": "1999", "authors": "Van der Vieren M, Crowe DT, Hoekstra D, Vazeux R, Hoffman PA, Grayson MH, Bochner BS, Gallatin WM, Staunton DE", "evidence": [ { "database": "Reactome", "id": "R-HSA-216083", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-216083" } ], "reference": [ { "type": "PubMed", "id": "10438935", "url": "https://glygen.org/publication/PubMed/10438935" } ] }, { "title": "Mammalian BMP-1/Tolloid-related metalloproteinases, including novel family member mammalian Tolloid-like 2, have differential enzymatic activities and distributions of expression relevant to patterning and skeletogenesis.", "journal": "Developmental biology", "date": "1999", "authors": "Scott IC, Blitz IL, Pappano WN, Imamura Y, Clark TG, Steiglitz BM, Thomas CL, Maas SA, Takahara K, Cho KW, Greenspan DS", "evidence": [ { "database": "Reactome", "id": "R-HSA-1650814", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1650814" } ], "reference": [ { "type": "PubMed", "id": "10479448", "url": "https://glygen.org/publication/PubMed/10479448" } ] }, { "title": "Identification and molecular cloning of p75/AIRM1, a novel member of the sialoadhesin family that functions as an inhibitory receptor in human natural killer cells.", "journal": "The Journal of experimental medicine", "date": "1999", "authors": "Falco M, Biassoni R, Bottino C, Vitale M, Sivori S, Augugliaro R, Moretta L, Moretta A", "evidence": [ { "database": "Reactome", "id": "R-HSA-198933", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-198933" } ], "reference": [ { "type": "PubMed", "id": "10499918", "url": "https://glygen.org/publication/PubMed/10499918" } ] }, { "title": "Mechanism of action and in vivo role of platelet-derived growth factor.", "journal": "Physiological reviews", "date": "1999", "authors": "Heldin CH, Westermark B", "evidence": [ { "database": "Reactome", "id": "R-HSA-186797", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-186797" } ], "reference": [ { "type": "PubMed", "id": "10508235", "url": "https://glygen.org/publication/PubMed/10508235" } ] }, { "title": "HGF induces FAK activation and integrin-mediated adhesion in MTLn3 breast carcinoma cells.", "journal": "International journal of cancer", "date": "1999", "authors": "Beviglia L, Kramer RH", "evidence": [ { "database": "Reactome", "id": "R-HSA-8874081", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8874081" } ], "reference": [ { "type": "PubMed", "id": "10521801", "url": "https://glygen.org/publication/PubMed/10521801" } ] }, { "title": "Characteristics of fibrinogen binding to the domain of CD11c, an alpha subunit of p150,95.", "journal": "Biochemical and biophysical research communications", "date": "1999", "authors": "Nham SU", "evidence": [ { "database": "Reactome", "id": "R-HSA-216083", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-216083" } ], "reference": [ { "type": "PubMed", "id": "10543983", "url": "https://glygen.org/publication/PubMed/10543983" } ] }, { "title": "Catalytic activities and substrate specificity of the human membrane type 4 matrix metalloproteinase catalytic domain.", "journal": "The Journal of biological chemistry", "date": "1999", 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of ligand", "id": "GO:0097192", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097192", "evidence": [ { "database": "UniProtKB", "id": "P02458", "url": "https://www.uniprot.org/uniprot/P02458" } ], "pmid": "" }, { "name": "notochord development", "id": "GO:0030903", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030903", "evidence": [ { "database": "UniProtKB", "id": "P02458", "url": "https://www.uniprot.org/uniprot/P02458" } ], "pmid": "" }, { "name": "cartilage development involved in endochondral bone morphogenesis", "id": "GO:0060351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060351", "evidence": [ { "database": "UniProtKB", "id": "P02458", "url": "https://www.uniprot.org/uniprot/P02458" } ], "pmid": "" }, { "name": "limb bud formation", "id": "GO:0060174", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060174", "evidence": [ { "database": "UniProtKB", "id": "P02458", "url": "https://www.uniprot.org/uniprot/P02458" } ], "pmid": "" }, { "name": "proteoglycan metabolic 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