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blocked by the K(+)-channel blockers apamin and tetrapentylammonium ion, and a monoclonal antibody to a 63 kDa membrane protein: reversal of blockade by K+ ionophores nigericin and valinomycin and purification of the 63 kDa antibody-binding protein.", "journal": "Biochem. J.", "date": "1994", "authors": "O'Rourke F, Soons K, Flaumenhauft R, Watras J, Baio-Larue C, Matthews E, Feinstein M B", "reference": { "type": "PubMed", "id": "8010949", "url": "https://pubmed.ncbi.nlm.nih.gov/8010949" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q8IWX8-1", "protein_name": "Calcium homeostasis endoplasmic reticulum protein", "gene_name": "CHERP", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8IWX8", "url": "https://www.uniprot.org/uniprotkb/Q8IWX8" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.8010949", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", 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Biol. 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"DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO: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:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO: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:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO: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:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0700275", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0700275", "name": "prostate cancer, hereditary", "description": "An instance of prostate cancer that is caused by an inherited genomic modification in an individual. Familial prostate cancer (FPC) is a malignant tumor of the prostate with an early onset. FPC is either asymptomatic or causes mictionary symptoms, erectile dysfunction, bone pain, venous compression and infectious or inflammatory syndrome (for the metastatic forms). It is also characterized by familial antecedents." }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:610997", "resource": "MIM", "url": "https://www.omim.org/entry/610997", "name": "Prostate cancer, hereditary, 9", "description": "Prostate cancer, hereditary, 9" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ] }, { "disease_id": "DOID:0050813", "recommended_name": { "id": "DOID:0050813", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050813", "name": "spondyloepiphyseal dysplasia with congenital joint dislocations", "description": "A spondyloepiphyseal dysplasia that is characterized by short stature of prenatal onset, joint dislocations (knees, hips, radial heads), club feet, and limitation of range of motion that can involve all large joints." }, "synonyms": [ { "id": "DOID:0050813", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050813", "name": "Humero-spinal dysostosis with congenital heart disease", "description": "" }, { "id": "DOID:0050813", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050813", "name": "CHONDRODYSPLASIA WITH MULTIPLE DISLOCATIONS", "description": "" }, { "id": "DOID:0050813", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050813", "name": "CHST3-Related Skeletal Dysplasia", "description": "" }, { "id": "DOID:0050813", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050813", "name": "Kozlowski Celermajer Tink syndrome", "description": "" }, { "id": "DOID:0050813", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050813", "name": "Omani Type", "description": "" }, { "id": "DOID:0050813", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050813", "name": "Spondyloepiphyseal Dysplasia", "description": "" }, { "id": "DOID:0050813", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050813", "name": "humero-spinal dysostosis", "description": "" }, { "id": "DOID:0050813", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050813", "name": "humerospinal dysostosis", "description": "" }, { "id": "MONDO:0007738", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007738", "name": "spondyloepiphyseal dysplasia with congenital joint dislocations", "description": "CHST3-related skeletal dysplasia is a very rare bone disorder characterized clinically by short stature of prenatal onset; dislocation of the knees, hips or elbows; club feet; limitation of range of motion of large joints; progressive kyphosis; and occasional scoliosis. In a few patients, minor heart valve dysplasia has also been described. Intellect, vision and hearing are normal." }, { "id": "MONDO:0007738", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007738", "name": "spondyloepiphyseal dysplasia", "description": "" }, { "id": "MONDO:0007738", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007738", "name": "CHST3-related skeletal dysplasia", "description": "" }, { "id": "MONDO:0007738", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007738", "name": "Humerospinal dysostosis", "description": "" }, { "id": "MONDO:0007738", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007738", "name": "SDCD, CHST3 type", "description": "" }, { "id": "MONDO:0007738", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007738", "name": "chondrodysplasia with congenital joint dislocations, CHST3 type", "description": "" }, { "id": "MONDO:0007738", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007738", "name": "chondrodysplasia with multiple dislocations", "description": "" }, { "id": "MONDO:0007738", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007738", "name": "spondyloepiphyseal dysplasia with congenital joint dislocations", "description": "" }, { "id": "MONDO:0007738", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007738", "name": "spondyloepiphyseal dysplasia with congenital joint dyslocations, CHST3 type", "description": "" }, { "id": "MONDO:0007738", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007738", "name": "Gollop Coates syndrome", "description": "" }, { "id": "MONDO:0007738", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007738", "name": "SEDCJD", "description": "" }, { "id": "MONDO:0007738", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007738", "name": "bifurcation of distal humerus with oligoectro-syndactyly", "description": "" }, { "id": "MIM:143095", "resource": "MIM", "url": "https://www.omim.org/entry/143095", "name": "Spondyloepiphyseal dysplasia with congenital joint dislocations", "description": "Spondyloepiphyseal dysplasia with congenital joint dislocations" } ], "unlinked_id_list": [], "evidence": [ { "id": "0007738", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007738" }, { "id": "CHST3", "database": "Genomics England", "url": "https://panelapp.genomicsengland.co.uk/panels/25/gene/CHST3/#!details" }, { "id": "9469", "database": "GlyCosmos", "url": "https://glycosmos.org/glycogenes/show/9469#disease" }, { "id": "0050813", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050813" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ], "filter_code": "000000000000000010000.00000000000000.000000000001000000.00001.11.000.001", "uniprot_canonical_ac": "Q7LGC8-1" } ], 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Part A", "date": "2013-10", "authors": "Tanteles George A, Dixit Abhijit, Dhar Sunil, Suri Mohnish", "reference": { "type": "PubMed", "id": "23918704", "url": "https://pubmed.ncbi.nlm.nih.gov/23918704" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q7LGC8-1", "protein_name": "Carbohydrate sulfotransferase 3", "gene_name": "CHST3", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q7LGC8", "url": "https://www.uniprot.org/uniprotkb/Q7LGC8" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "snv": [ { "evidence": [ { "id": "rs747171013", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs747171013" }, { "id": "rs747171013", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs747171013" }, { "id": "23918704", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/23918704" } ], "glycoeffect": [], "start_pos": 355, "end_pos": 355, "sequence_org": "G", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfotransferase.", "chr_id": "10", "chr_pos": "72008094", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G355", "disease": [ { "disease_id": "DOID:0050813", "recommended_name": { "id": "DOID:0050813", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050813", "name": "spondyloepiphyseal dysplasia with congenital joint dislocations", "description": "A spondyloepiphyseal dysplasia that is characterized by short stature of prenatal onset, joint dislocations (knees, hips, radial heads), club feet, and limitation of range of motion that can involve all large joints." }, "synonyms": [ { "id": "DOID:0050813", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050813", "name": "Humero-spinal dysostosis with congenital heart disease", "description": "" }, { "id": "DOID:0050813", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050813", "name": "CHONDRODYSPLASIA WITH MULTIPLE DISLOCATIONS", "description": "" }, { "id": "DOID:0050813", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050813", "name": "CHST3-Related Skeletal Dysplasia", "description": "" }, { "id": "DOID:0050813", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050813", "name": "Kozlowski Celermajer Tink syndrome", "description": "" }, { "id": "DOID:0050813", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050813", "name": "Omani Type", "description": "" }, { "id": "DOID:0050813", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050813", "name": "Spondyloepiphyseal Dysplasia", "description": "" }, { "id": "DOID:0050813", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050813", "name": "humero-spinal dysostosis", "description": "" }, { "id": "DOID:0050813", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050813", "name": "humerospinal dysostosis", "description": "" }, { "id": "MONDO:0007738", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007738", "name": "spondyloepiphyseal dysplasia with congenital joint dislocations", "description": "CHST3-related skeletal dysplasia is a very rare bone disorder characterized clinically by short stature of prenatal onset; dislocation of the knees, hips or elbows; club feet; limitation of range of motion of large joints; progressive kyphosis; and occasional scoliosis. In a few patients, minor heart valve dysplasia has also been described. Intellect, vision and hearing are normal." }, { "id": "MONDO:0007738", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007738", "name": "spondyloepiphyseal dysplasia", "description": "" }, { "id": "MONDO:0007738", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007738", "name": "CHST3-related skeletal dysplasia", "description": "" }, { "id": "MONDO:0007738", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007738", "name": "Humerospinal dysostosis", "description": "" }, { "id": "MONDO:0007738", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007738", "name": "SDCD, CHST3 type", "description": "" }, { "id": "MONDO:0007738", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007738", "name": "chondrodysplasia with congenital joint dislocations, CHST3 type", "description": "" }, { "id": "MONDO:0007738", "resource": "MONDO", "url": 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characterization.", "journal": "Gene", "date": "2001", "authors": "Mao Z, Shay B, Hekmati M, Fermon E, Taylor A, Dafni L, Heikinheimo K, Lustmann J, Fisher L W, Young M F, Deutsch D", "reference": { "type": "PubMed", "id": "11733143", "url": "https://pubmed.ncbi.nlm.nih.gov/11733143" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q9NNX1-1", "protein_name": "Tuftelin", "gene_name": "TUFT1", "tax_name": "Human" }, { "uniprot_canonical_ac": "O08970-1", "protein_name": "Tuftelin", "gene_name": "Tuft1", "tax_name": "Mouse" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9NNX1", "url": "https://www.uniprot.org/uniprotkb/Q9NNX1" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.11733143", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": 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"Tuftelin", "gene_name": "Tuft1", "tax_name": "Mouse" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9NNX1", "url": "https://www.uniprot.org/uniprotkb/Q9NNX1" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.36689522", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": 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