{ "uniprot_canonical_ac": "P21576-1", "uniprot_ac": "P21576", "uniprot_id": "VPS1_YEAST", "mass": { "chemical_mass": 78737.0, "monoisotopic_mass": 78737.0 }, "refseq": { "ac": "NP_012926", "name": "dynamin-like GTPase VPS1", "summary": "", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_012926" }, "gene_names": [ { "name": "VPS1", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P21576", "id": "P21576" }, { "name": "GRD1; LAM1; SPO15; VPL1; VPT26", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_012926", "id": "NP_012926" }, { "name": "LAM1", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P21576", "id": "P21576" }, { "name": "SPO15", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P21576", "id": "P21576" }, { "name": "VPS1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_012926", "id": "NP_012926" } ], "protein_names": [ { "name": "Vacuolar protein sorting-associated protein 1", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "P21576" }, { "name": "dynamin-like GTPase VPS1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_012926", "id": "NP_012926" } ], "function": [ { "annotation": "Essential for protein sorting in meiotic cell division of S.cerevisiae; it binds microtubules. Could also be involved in microtubule-associated motility. Necessary for membrane protein retention in a late Golgi compartment. Interacts with the MVP1 protein.", "evidence": [ { "database": "UniProtKB", "id": "P21576", "url": "https://www.uniprot.org/uniprot/P21576#function" }, { "database": "PubMed", "id": "8344247", "url": "https://glygen.org/publication/PubMed/8344247" } ] } ], "disease": [ { "disease_id": "DOID:0060558", "recommended_name": { "id": "DOID:0060558", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060558", "name": "lethal congenital contracture syndrome", "description": "A syndrome characterized by congenital nonprogressive joint contractures. The contractures can involve the upper or lower limbs and/or the vertebral column, leading to various degrees of flexion or extension limitations evident at birth." }, "synonyms": [ { "id": "MONDO:0009670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009670", "name": "lethal congenital contracture syndrome 1", "description": "Lethal congenital contracture syndrome type 1 is a rare, genetic arthrogryposis syndrome characterized by total fetal akinesia (detectable since the 13th week of gestation) accompanied by hydrops, micrognathia, pulmonary hypoplasia, pterygia and multiple joint contractures (usually flexion contractures in the elbows and extension in the knees), leading invariably to death before the 32nd week of gestation. Lack of anterior horn motoneurons, severe atrophy of the ventral spinal cord and severe skeletal muscle hypoplasia are characteristic neuropathological findings, with no evidence of other organ structural anomalies." }, { "id": "MONDO:0009670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009670", "name": "GLE1 lethal congenital contracture syndrome", "description": "" }, { "id": "MONDO:0009670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009670", "name": "Herva disease", "description": "" }, { "id": "MONDO:0009670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009670", "name": "LCCS1", "description": "" }, { "id": "MONDO:0009670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009670", "name": "lethal congenital contracture syndrome 1", "description": "" }, { "id": "MONDO:0009670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009670", "name": "lethal congenital contracture syndrome caused by mutation in GLE1", "description": "" }, { "id": "MONDO:0009670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009670", "name": "lethal congenital contracture syndrome type 1", "description": "" }, { "id": "MONDO:0009670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009670", "name": "multiple contracture syndrome, Finnish type", "description": "" }, { "id": "MONDO:0009670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009670", "name": "Lccs", "description": "" }, { "id": "MONDO:0009670", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009670", "name": "lethal autosomal recessive syndrome of multiple congenital contractures", "description": "" }, { "id": "MIM:253310", "resource": "MIM", "url": "https://www.omim.org/entry/253310", "name": "Lethal congenital contracture syndrome 1", "description": "Lethal congenital contracture syndrome 1" } ], "evidence": [ { "id": "0060558", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0060558" } ] }, { "disease_id": "DOID:0070376", "recommended_name": { "id": "DOID:0070376", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070376", "name": "developmental and epileptic encephalopathy 31B", "description": "A developmental and epileptic encephalopathy characterized by early-onset epilepsy, generalized muscular hypotonia, visual impairment, and severe neurodevelopmental delay that has_material_basis_in homozygous mutation in the DNM1 gene on chromosome 9q34." }, "synonyms": [ { "id": "DOID:0070376", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070376", "name": "DEE31B", "description": "" }, { "id": "MONDO:0957248", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0957248", "name": "developmental and epileptic encephalopathy 31B", "description": "" }, { "id": "MIM:620352", "resource": "MIM", "url": "https://www.omim.org/entry/620352", "name": "Developmental and epileptic encephalopathy 31B", "description": "Developmental and epileptic encephalopathy 31B" } ], "evidence": [ { "id": "0070376", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0070376" } ] }, { "disease_id": "DOID:0080437", "recommended_name": { "id": "DOID:0080437", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080437", "name": "developmental and epileptic encephalopathy 31A", "description": "A developmental and epileptic encephalopathy characterized by onset in the first months or years of life of refractory seizures and global developmental delay from early infancy that has_material_basis_in heterozygous mutation in the DNM1 gene on chromosome 9q34." }, "synonyms": [ { "id": "DOID:0080437", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080437", "name": "early infantile epileptic encephalopathy 31", "description": "" }, { "id": "DOID:0080437", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080437", "name": "DEE31", "description": "" }, { "id": "DOID:0080437", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080437", "name": "DEE31A", "description": "" }, { "id": "DOID:0080437", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080437", "name": "developmental and epileptic encephalopathy 31", "description": "" }, { "id": "MONDO:0014598", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014598", "name": "developmental and epileptic encephalopathy, 31", "description": "Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the DNM1 gene." }, { "id": "MONDO:0014598", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014598", "name": "DEE31", "description": "" }, { "id": "MONDO:0014598", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014598", "name": "DNM1 early infantile epileptic encephalopathy", "description": "" }, { "id": "MONDO:0014598", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014598", "name": "EIEE31", "description": "" }, { "id": "MONDO:0014598", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014598", "name": "developmental and epileptic encephalopathy 31", "description": "" }, { "id": "MONDO:0014598", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014598", "name": "early infantile epileptic encephalopathy caused by mutation in DNM1", "description": "" }, { "id": "MONDO:0014598", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014598", "name": "epileptic encephalopathy, early infantile, 31", "description": "" }, { "id": "MONDO:0014598", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014598", "name": "epileptic encephalopathy, early infantile, type 31", "description": "" }, { "id": "MIM:616346", "resource": "MIM", "url": "https://www.omim.org/entry/616346", "name": "Developmental and epileptic encephalopathy 31A", "description": "Developmental and epileptic encephalopathy 31A" } ], "evidence": [ { "id": "0080437", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0080437" } ] }, { "disease_id": "DOID:0110197", "recommended_name": { "id": "DOID:0110197", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110197", "name": "Charcot-Marie-Tooth disease dominant intermediate B", "description": "A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in mutation in the gene encoding dynamin-2 (DNM2)." }, "synonyms": [ { "id": "DOID:0110197", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110197", "name": "CMTDI1", "description": "" }, { "id": "DOID:0110197", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110197", "name": "CMTDIB", "description": "" }, { "id": "DOID:0110197", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110197", "name": "DI-CMTB", "description": "" }, { "id": "DOID:0110197", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110197", "name": "Charcot-Marie-Tooth neuropathy dominant intermediate B", "description": "" }, { "id": "MONDO:0011674", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011674", "name": "Charcot-Marie-Tooth disease dominant intermediate B", "description": "Autosomal dominant intermediate Charcot-Marie-Tooth disease type B is a rare hereditary motor and sensory neuropathy characterized by intermediate motor median nerve conduction velocities (usually between 25 and 45 m/s) and signs of both demyelination and axonal degeneration in nerve biopsies. It presents with mild to moderately severe, slowly progressive usual clinical features of Charcot-Marie-Tooth disease (muscle weakness and atrophy of the distal extremities, distal sensory loss, reduced or absent deep tendon reflexes, and feet deformities). Other findings include asymptomatic neutropenia and early-onset cataracts." }, { "id": "MONDO:0011674", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011674", "name": "CMTDI1", "description": "" }, { "id": "MONDO:0011674", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011674", "name": "CMTDIB", "description": "" }, { "id": "MONDO:0011674", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011674", "name": "Charcot-Marie-Tooth disease caused by mutation in DNM2", "description": "" }, { "id": "MONDO:0011674", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011674", "name": "Charcot-Marie-Tooth disease dominant intermediate type B", "description": "" }, { "id": "MONDO:0011674", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011674", "name": "Charcot-Marie-Tooth disease, axonal type 2M", "description": "" }, { "id": "MONDO:0011674", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011674", "name": "Charcot-Marie-Tooth disease, dominant Intermediate type B", "description": "" }, { "id": "MONDO:0011674", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011674", "name": "Charcot-Marie-Tooth neuropathy dominant intermediate B", "description": "" }, { "id": "MONDO:0011674", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011674", "name": "DI-CMTB", "description": "" }, { "id": "MONDO:0011674", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011674", "name": "DNM2 Charcot-Marie-Tooth disease", "description": "" }, { "id": "MONDO:0011674", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011674", "name": "Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2M", "description": "" }, { "id": "MONDO:0011674", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011674", "name": "Charcot-Marie-Tooth disease, axonal, type 2M", "description": "" }, { "id": "MONDO:0011674", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011674", "name": "Charcot-Marie-Tooth disease, dominant Intermediate B, with neutropenia", "description": "" }, { "id": "MONDO:0011674", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011674", "name": "Charcot-Marie-Tooth disease, dominant intermediate B", "description": "" }, { "id": "MONDO:0011674", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011674", "name": "Charcot-Marie-Tooth neuropathy, axonal, type 2M", "description": "" }, { "id": "MONDO:0011674", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011674", "name": "Charcot-Marie-Tooth neuropathy, dominant Intermediate B", "description": "" }, { "id": "MONDO:0011674", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011674", "name": "Charcot-Marie-Tooth neuropathy, dominant Intermediate B, with neutropenia", "description": "" }, { "id": "MONDO:0011674", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011674", "name": "Cmtdi1", "description": "" }, { "id": "MONDO:0011674", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011674", "name": "DNM2-related intermediate Charcot-Marie-Tooth neuropathy", "description": "" }, { "id": "MONDO:0011674", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011674", "name": "Di-CMTB", "description": "" }, { "id": "MONDO:0011674", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011674", "name": "autosomal dominant intermediate Charcot-Marie-Tooth disease type B", "description": "" }, { "id": "MIM:606482", "resource": "MIM", "url": "https://www.omim.org/entry/606482", "name": "Charcot-Marie-Tooth disease, dominant intermediate B", "description": "Charcot-Marie-Tooth disease, dominant intermediate B" } ], "evidence": [ { "id": "0110197", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0110197" } ] }, { "disease_id": "DOID:0111223", "recommended_name": { "id": "DOID:0111223", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111223", "name": "centronuclear myopathy 1", "description": "An autosomal dominant centronuclear myopathy characterized by slowly progressive muscle wasting and weakness involving mainly the limb girdle, trunk, and neck muscles that has_material_basis_in heterozygous mutation in DNM2 on 19p13.2." }, "synonyms": [ { "id": "DOID:0111223", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111223", "name": "CNM1", "description": "" }, { "id": "MONDO:0008048", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008048", "name": "autosomal dominant centronuclear myopathy", "description": "An inherited neuromuscular disorder defined by numerous centrally placed nuclei on muscle biopsy and clinical features of a congenital myopathy." }, { "id": "MONDO:0008048", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008048", "name": "AD-CNM", "description": "" }, { "id": "MONDO:0008048", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008048", "name": "CNM1", "description": "" }, { "id": "MONDO:0008048", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008048", "name": "autosomal dominant centronuclear myopathy", "description": "" }, { "id": "MONDO:0008048", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008048", "name": "autosomal dominant centronuclear myopathy caused by mutation in MYF6", "description": "" }, { "id": "MONDO:0008048", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008048", "name": "centronuclear myopathy 1", "description": "" }, { "id": "MONDO:0008048", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008048", "name": "centronuclear myopathy, autosomal dominant", "description": "" }, { "id": "MONDO:0008048", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008048", "name": "centronuclear myopathy, autosomal, modifier of", "description": "" }, { "id": "MONDO:0008048", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008048", "name": "myopathy, centronuclear, 1", "description": "" }, { "id": "MONDO:0008048", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008048", "name": "myopathy, centronuclear, 3", "description": "" }, { "id": "MONDO:0008048", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008048", "name": "myopathy, centronuclear, autosomal dominant", "description": "" }, { "id": "MONDO:0008048", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008048", "name": "myopathy, centronuclear, type 1", "description": "" }, { "id": "MONDO:0008048", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008048", "name": "myopathy, centronuclear, type 3", "description": "" }, { "id": "MONDO:0008048", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008048", "name": "myotubular myopathy, autosomal dominant", "description": "" }, { "id": "MONDO:0008048", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008048", "name": "CNM3", "description": "" }, { "id": "MONDO:0008048", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008048", "name": "DNM2-related centronuclear myopathy", "description": "" }, { "id": "MONDO:0008048", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008048", "name": "autosomal dominant centronuclear myopathy", "description": "An inherited neuromuscular disorder defined by numerous centrally placed nuclei on muscle biopsy and clinical features of a congenital myopathy." }, { "id": "MONDO:0008048", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008048", "name": "AD-CNM", "description": "" }, { "id": "MONDO:0008048", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008048", "name": "CNM1", "description": "" }, { "id": "MONDO:0008048", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008048", "name": "autosomal dominant centronuclear myopathy", "description": "" }, { "id": "MONDO:0008048", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008048", "name": "autosomal dominant centronuclear myopathy caused by mutation in MYF6", "description": "" }, { "id": "MONDO:0008048", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008048", "name": "centronuclear myopathy 1", "description": "" }, { "id": "MONDO:0008048", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008048", "name": "centronuclear myopathy, autosomal dominant", "description": "" }, { "id": "MONDO:0008048", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008048", "name": "centronuclear myopathy, autosomal, modifier of", "description": "" }, { "id": "MONDO:0008048", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008048", "name": "myopathy, centronuclear, 1", "description": "" }, { "id": "MONDO:0008048", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008048", "name": "myopathy, centronuclear, 3", "description": "" }, { "id": "MONDO:0008048", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008048", "name": "myopathy, centronuclear, autosomal dominant", "description": "" }, { "id": "MONDO:0008048", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008048", "name": "myopathy, centronuclear, type 1", "description": "" }, { "id": "MONDO:0008048", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008048", "name": "myopathy, centronuclear, type 3", "description": "" }, { "id": "MONDO:0008048", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008048", "name": "myotubular myopathy, autosomal dominant", "description": "" }, { "id": "MONDO:0008048", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008048", "name": "CNM3", "description": "" }, { "id": "MONDO:0008048", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008048", "name": "DNM2-related centronuclear myopathy", "description": "" }, { "id": "MIM:160150", "resource": "MIM", "url": "https://www.omim.org/entry/160150", "name": "Myopathy, centronuclear, 1", "description": "Myopathy, centronuclear, 1" } ], "evidence": [ { "id": "0111223", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0111223" } ] }, { "disease_id": "DOID:0112202", "recommended_name": { "id": "DOID:0112202", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0112202", "name": "developmental and epileptic encephalopathy", "description": "An electroclinical syndrome characterized by epileptiform activity and at least one other pathology that together contribute to cognitive and behavioral impairments including developmental delay or regression with onset anywhere from birth to adulthood." }, "synonyms": [ { "id": "MONDO:0010632", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010632", "name": "developmental and epileptic encephalopathy, 1", "description": "Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the ARX gene." }, { "id": "MONDO:0010632", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010632", "name": "ARX early infantile epileptic encephalopathy", "description": "" }, { "id": "MONDO:0010632", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010632", "name": "DEE1", "description": "" }, { "id": "MONDO:0010632", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010632", "name": "EIEE1", "description": "" }, { "id": "MONDO:0010632", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010632", "name": "developmental and epileptic encephalopathy 1, X-linked recessive", "description": "" }, { "id": "MONDO:0010632", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010632", "name": "early infantile epileptic encephalopathy caused by mutation in ARX", "description": "" }, { "id": "MONDO:0010632", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010632", "name": "early infantile epileptic encephalopathy caused by mutation in arx", "description": "" }, { "id": "MONDO:0010632", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010632", "name": "epileptic encephalopathy, early infantile, 1", "description": "" }, { "id": "MONDO:0010632", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010632", "name": "epileptic encephalopathy, early infantile, type 1", "description": "" }, { "id": "MONDO:0010632", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010632", "name": "Ohtahara syndrome, X-linked", "description": "" }, { "id": "MONDO:0010632", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010632", "name": "West syndrome, X-linked", "description": "" }, { "id": "MONDO:0010632", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010632", "name": "XMESID", "description": "" }, { "id": "MONDO:0010632", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010632", "name": "infantile epileptic-dyskinetic encephalopathy", "description": "" }, { "id": "MONDO:0010632", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010632", "name": "infantile spasm syndrome, X-linked 1", "description": "" }, { "id": "MIM:308350", "resource": "MIM", "url": "https://www.omim.org/entry/308350", "name": "Developmental and epileptic encephalopathy 1", "description": "Developmental and epileptic encephalopathy 1" } ], "evidence": [ { "id": "0112202", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0112202" } ] }, { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, on chromosome 7", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "predisposing for prostate cancer", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate carcinoma", "description": "Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma." }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate carcinoma", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, somatic", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, hereditary", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer aggressiveness", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "Prca1", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer susceptibility, X-linked", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" } ], "evidence": [ { "id": "10283", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ] }, { "disease_id": "DOID:10652", "recommended_name": { "id": "DOID:10652", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10652", "name": "Alzheimer's disease", "description": "A tauopathy that is characterized by memory lapses, confusion, emotional instability and progressive loss of mental ability and results in progressive memory loss, impaired thinking, disorientation, and changes in personality and mood starting and leads in advanced cases to a profound decline in cognitive and physical functioning and is marked histologically by the degeneration of brain neurons especially in the cerebral cortex and by the presence of neurofibrillary tangles and plaques containing beta-amyloid." }, "synonyms": [ { "id": "DOID:10652", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10652", "name": "Alzheimer disease", "description": "" }, { "id": "DOID:10652", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10652", "name": "Alzheimers dementia", "description": "" } ], "evidence": [ { "id": "10652", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:10652" } ] }, { "disease_id": "DOID:11166", "recommended_name": { "id": "DOID:11166", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11166", "name": "Human papillomavirus infectious disease", "description": "A viral infectious disease that has_material_basis_in human papillomaviruses, which establish productive infections only in the stratified epithelium of the skin or mucous membranes. These viruses cause warts and sometimes tumors. They are transmitted_by sexual contact." }, "synonyms": [ { "id": "DOID:11166", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11166", "name": "HPV", "description": "" } ], "evidence": [ { "id": "11166", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:11166" } ] }, { "disease_id": "DOID:11252", "recommended_name": { "id": "DOID:11252", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11252", "name": "microcytic anemia", "description": "" }, "synonyms": [ { "id": "MONDO:0008788", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008788", "name": "IRIDA syndrome", "description": "IRIDA (Iron-refractory iron deficiency anemia) syndrome is a rare autosomal recessive iron metabolism disorder characterized by iron deficiency anemia (hypochromic, microcytic) that is often unresponsive to oral iron intake and partially responsive to parenteral iron treatment." }, { "id": "MONDO:0008788", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008788", "name": "IRIDA syndrome", "description": "" }, { "id": "MONDO:0008788", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008788", "name": "iron-refractory iron deficiency anaemia", "description": "" }, { "id": "MONDO:0008788", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008788", "name": "iron-refractory iron deficiency anemia", "description": "" }, { "id": "MONDO:0008788", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008788", "name": "IRIDA", "description": "" }, { "id": "MONDO:0008788", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008788", "name": "anemia, hypochromic microcytic, with defect in iron metabolism", "description": "" }, { "id": "MONDO:0008788", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008788", "name": "iron-handling disorder, hereditary", "description": "" }, { "id": "MONDO:0008788", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008788", "name": "pseudo-iron-deficiency Anaemia", "description": "" }, { "id": "MONDO:0008788", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008788", "name": "pseudo-iron-deficiency Anemia", "description": "" }, { "id": "MIM:206200", "resource": "MIM", "url": "https://www.omim.org/entry/206200", "name": "Iron-refractory iron deficiency anemia", "description": "Iron-refractory iron deficiency anemia" } ], "evidence": [ { "id": "11252", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:11252" } ] }, { "disease_id": "DOID:14717", "recommended_name": { "id": "DOID:14717", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14717", "name": "centronuclear myopathy", "description": "A congenital structural myopathy characterized by abnormally located nuclei in skeletal muscle cells. The nuclei are located in the center of the cell, instead of their normal location at the periphery." }, "synonyms": [ { "id": "DOID:14717", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14717", "name": "myotubular myopathy", "description": "" } ], "evidence": [ { "id": "14717", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:14717" } ] }, { "disease_id": "DOID:1827", "recommended_name": { "id": "DOID:1827", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1827", "name": "idiopathic generalized epilepsy", "description": "An epilepsy syndrome that is characterised by generalised seizures with no apparent cause which arise from many independent foci (multifocal epilepsies) or from epileptic circuits that involve the whole brain." }, "synonyms": [ { "id": "DOID:1827", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1827", "name": "Generalised epilepsy", "description": "" }, { "id": "MONDO:0005579", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005579", "name": "epilepsy, idiopathic generalized", "description": "A chronic condition characterized by recurrent generalized seizures." }, { "id": "MONDO:0005579", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005579", "name": "EIG", "description": "" }, { "id": "MONDO:0005579", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005579", "name": "epilepsy, idiopathic generalized", "description": "" }, { "id": "MONDO:0005579", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005579", "name": "generalised epilepsy", "description": "" }, { "id": "MONDO:0005579", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005579", "name": "generalized epilepsy", "description": "" }, { "id": "MONDO:0005579", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005579", "name": "idiopathic generalised epilepsy", "description": "" }, { "id": "MONDO:0005579", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005579", "name": "idiopathic generalized epilepsy", "description": "" } ], "evidence": [ { "id": "1827", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:1827" } ] }, { "disease_id": "DOID:2476", "recommended_name": { "id": "DOID:2476", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2476", "name": "hereditary spastic paraplegia", "description": "A paraplegia that is characterized by progressive stiffness and contraction (spasticity) in the lower limbs." }, "synonyms": [ { "id": "DOID:2476", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2476", "name": "French settlement disease", "description": "" }, { "id": "DOID:2476", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2476", "name": "Strumpell-Lorrain disease", "description": "" }, { "id": "DOID:2476", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2476", "name": "familial spastic paraplegia", "description": "" }, { "id": "DOID:2476", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2476", "name": "hereditary spastic paraparesis", "description": "" }, { "id": "MONDO:0010559", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010559", "name": "MASA syndrome", "description": "MASA syndrome (Mental retardation, Aphasia, Spastic paraplegia, Adducted thumbs) is a historical term used to describe a phenotype now considered to be part of the X-linked L1 clinical spectrum (L1 syndrome). MASA is characterized by mild to moderate intellectual deficit, delayed development of speech, hypotonia progressing to spasticity or spastic paraplegia, adducted thumbs, and mild to moderate distension of the cerebral ventricles." }, { "id": "MONDO:0010559", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010559", "name": "Gareis-Mason syndrome", "description": "" }, { "id": "MONDO:0010559", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010559", "name": "MASA syndrome", "description": "" }, { "id": "MONDO:0010559", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010559", "name": "X-linked complicated hereditary spastic paraplegia type 1", "description": "" }, { "id": "MONDO:0010559", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010559", "name": "X-linked corpus callosum agenesis", "description": "" }, { "id": "MONDO:0010559", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010559", "name": "X-linked spastic paraplegia 1", "description": "" }, { "id": "MONDO:0010559", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010559", "name": "hereditary spastic paraplegia 1", "description": "" }, { "id": "MONDO:0010559", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010559", "name": "intellectual disability-aphasia-shuffling gait-adducted thumbs syndrome", "description": "" }, { "id": "MONDO:0010559", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010559", "name": "masa syndrome, X-linked recessive", "description": "" }, { "id": "MONDO:0010559", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010559", "name": "spastic paraplegia, X-linked", "description": "" }, { "id": "MONDO:0010559", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010559", "name": "CRASH syndrome", "description": "" }, { "id": "MONDO:0010559", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010559", "name": "CRASH syndrome, X-linked recessive", "description": "" }, { "id": "MONDO:0010559", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010559", "name": "Clasped thumb and intellectual disability", "description": "" }, { "id": "MONDO:0010559", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010559", "name": "Clasped thumb and mental retardation", "description": "" }, { "id": "MONDO:0010559", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010559", "name": "adducted thumb with intellectual disability", "description": "" }, { "id": "MONDO:0010559", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010559", "name": "adducted thumb with mental retardation", "description": "" }, { "id": "MONDO:0010559", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010559", "name": "intellectual disability aphasia shuffling Gait adducted thumbs (MASA)", "description": "" }, { "id": "MONDO:0010559", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010559", "name": "intellectual disability, aphasia, shuffling Gait, and adducted thumbs", "description": "" }, { "id": "MONDO:0010559", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010559", "name": "mental retardation aphasia shuffling Gait adducted thumbs (MASA)", "description": "" }, { "id": "MONDO:0010559", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010559", "name": "mental retardation, aphasia, shuffling Gait, and adducted thumbs", "description": "" }, { "id": "MONDO:0010559", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010559", "name": "spastic paraplegia 1", "description": "" }, { "id": "MONDO:0010559", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010559", "name": "spastic paraplegia 1, X-linked", "description": "" }, { "id": "MONDO:0010559", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010559", "name": "thumb congenital clasped with intellectual disability", "description": "" }, { "id": "MONDO:0010559", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010559", "name": "thumb congenital clasped with mental retardation", "description": "" }, { "id": "MONDO:0010559", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010559", "name": "thumb, congenital Clasped, with intellectual disability", "description": "" }, { "id": "MONDO:0010559", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010559", "name": "thumb, congenital Clasped, with mental retardation", "description": "" }, { "id": "MIM:303350", "resource": "MIM", "url": "https://www.omim.org/entry/303350", "name": "MASA syndrome", "description": "MASA syndrome" } ], "evidence": [ { "id": "2476", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:2476" } ] }, { "disease_id": "DOID:2975", "recommended_name": { "id": "DOID:2975", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2975", "name": "cystic kidney disease", "description": "" }, "synonyms": [ { "id": "DOID:2975", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2975", "name": "renal Cyst", "description": "" } ], "evidence": [ { "id": "2975", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:2975" } ] }, { "disease_id": "DOID:409", "recommended_name": { "id": "DOID:409", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:409", "name": "liver disease", "description": "" }, "synonyms": [ { "id": "DOID:409", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:409", "name": "disorder of liver", "description": "" }, { "id": "DOID:409", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:409", "name": "hepatic disorder", "description": "" } ], "evidence": [ { "id": "409", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:409" } ] }, { "disease_id": "DOID:423", "recommended_name": { "id": "DOID:423", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:423", "name": "myopathy", "description": "A muscular disease in which the muscle fibers do not function resulting in muscular weakness." }, "synonyms": [], "evidence": [ { "id": "423", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:423" } ] }, { "disease_id": "DOID:4492", "recommended_name": { "id": "DOID:4492", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4492", "name": "avian influenza", "description": "An influenza that results in infection located in respiratory tract of humans, domestic and wild birds, has_material_basis_in Influenza A virus, which is transmitted by contact with infected poultry. Five strains of avian influenza A viruses (H5N1, H7N3, H7N2, H7N7 and H9N2) are known to cause human infections. The infection has_symptom fever, has_symptom cough, has_symptom sore throat, has_symptom muscle aches, has_symptom nausea, has_symptom diarrhea, has_symptom vomiting, has_symptom neurologic changes, has_symptom pneumonia, and has_symptom acute respiratory distress." }, "synonyms": [ { "id": "DOID:4492", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4492", "name": "avian flu", "description": "" }, { "id": "DOID:4492", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4492", "name": "bird flu", "description": "" } ], "evidence": [ { "id": "4492", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:4492" } ] }, { "disease_id": "DOID:854", "recommended_name": { "id": "DOID:854", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:854", "name": "collagen disease", "description": "A connective tissue disease that characterized by connective tissue disease that has_material_basis_in inheritable defects in collagen." }, "synonyms": [ { "id": "DOID:854", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:854", "name": "collagen disorder", "description": "" } ], "evidence": [ { "id": "854", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:854" } ] }, { "disease_id": "DOID:986", "recommended_name": { "id": "DOID:986", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:986", "name": "alopecia areata", "description": "An autoimmune disease resulting in the loss of hair on the scalp and elsewhere on the body initially causing bald spots." }, "synonyms": [ { "id": "DOID:986", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:986", "name": "Circumscribed alopecia", "description": "" }, { "id": "MONDO:0007082", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007082", "name": "alopecia areata 1", "description": "" }, { "id": "MONDO:0007082", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007082", "name": "alopecia areata 1", "description": "" }, { "id": "MONDO:0007082", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007082", "name": "AA1", "description": "" }, { "id": "MONDO:0007082", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007082", "name": "alopecia universalis", "description": "" }, { "id": "MONDO:0012551", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012551", "name": "alopecia areata 2", "description": "" }, { "id": "MONDO:0012551", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012551", "name": "AA2", "description": "" }, { "id": "MONDO:0012551", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012551", "name": "alopecia areata 2", "description": "" } ], "evidence": [ { "id": "986", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:986" } ] } ], "snv": [], "mutagenesis": [], "expression_tissue": [], "expression_disease": [], "species": [ { "name": "Saccharomyces cerevisiae S288C", "taxid": 559292, "evidence": [ { "database": "UniProtKB", "id": "P21576", "url": "https://www.uniprot.org/uniprot/P21576" } ], "common_name": "Yeast" } ], "gene": [ { "name": "VPS1", "url": "https://www.uniprot.org/uniprot/P21576", "locus": { "chromosome": "XI", "start_pos": 440608, "end_pos": 442722, "strand": "+", "evidence": [ { "database": "Ensembl Gene", "id": "YKR001C", "url": "https://www.ensembl.org/id/YKR001C" } ] } } ], "crossref": [ { "id": "cd08771", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd08771", "database": "CDD", "categories": [ "Protein Classification" ] }, { "id": "853870", "url": "https://www.ncbi.nlm.nih.gov/gene/853870", "database": "GeneID", "categories": [ "Genome Annotation" ] }, { "id": "P21576", "url": "https://www.ebi.ac.uk/intact/interactors/id:P21576*", "database": "IntAct", "categories": [ "Other" ] }, { "id": "IPR000375", "url": "https://www.ebi.ac.uk/interpro/entry/IPR000375", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR001401", "url": "https://www.ebi.ac.uk/interpro/entry/IPR001401", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR003130", "url": "https://www.ebi.ac.uk/interpro/entry/IPR003130", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR019762", "url": "https://www.ebi.ac.uk/interpro/entry/IPR019762", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR020850", "url": "https://www.ebi.ac.uk/interpro/entry/IPR020850", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR022812", "url": "https://www.ebi.ac.uk/interpro/entry/IPR022812", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR027417", "url": "https://www.ebi.ac.uk/interpro/entry/IPR027417", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR030381", "url": "https://www.ebi.ac.uk/interpro/entry/IPR030381", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR045063", "url": "https://www.ebi.ac.uk/interpro/entry/IPR045063", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "sce:YKR001C", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+sce:YKR001C", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "P21576", "url": "https://oglcnac.org/atlas/detail/P21576", "database": "O-GlcNAc Atlas", "categories": [ "Glycoproteomics" ] }, { "id": "P21576", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P21576", "database": "O-GlcNAc Database", "categories": [ "Glycoproteomics" ] }, { "id": "IQRRKEC", "url": "https://omabrowser.org/oma/group/IQRRKEC/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "1052588at2759", "url": "http://www.orthodb.org/?query=1052588at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR11566", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11566", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR11566:SF220", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11566:SF220", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PF00350", "url": "http://pfam.xfam.org/family/PF00350", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF01031", "url": "http://pfam.xfam.org/family/PF01031", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF02212", "url": "http://pfam.xfam.org/family/PF02212", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PR_P21576", "url": "http://purl.obolibrary.org/obo/PR_P21576", "database": "PRO", "categories": [ "Protein" ] }, { "id": "NP_012926", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_012926", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "S000001709", "url": "https://www.yeastgenome.org/locus/S000001709", "database": "SGD", "categories": [ "Organism-specific" ] }, { "id": "P21576", "url": "https://www.uniprot.org/uniprot/P21576", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P21576-1", "url": "https://www.uniprot.org/uniprot/P21576-1", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MDEHLISTINKLQDALAPLGGGSQSPIDLPQITVVGSQSSGKSSVLENIVGRDFLPRGTGIVTRRPLVLQLINRRPKKSEHAKVNQTANELIDLNINDDDKKKDESGKHQNEGQSEDNKEEWGEFLHLPGKKFYNFDEIRKEIVKETDKVTGANSGISSVPINLRIYSPHVLTLTLVDLPGLTKVPVGDQPPDIERQIKDMLLKYISKPNAIILSVNAANTDLANSDGLKLAREVDPEGTRTIGVLTKVDLMDQGTDVIDILAGRVIPLRYGYIPVINRGQKDIEHKKTIREALENERKFFENHPSYSSKAHYCGTPYLAKKLNSILLHHIRQTLPEIKAKIEATLKKYQNELINLGPETMDSASSVVLSMITDFSNEYAGILDGEAKELSSQELSGGARISYVFHETFKNGVDSLDPFDQIKDSDIRTIMYNSSGSAPSLFVGTEAFEVLVKQQIRRFEEPSLRLVTLVFDELVRMLKQIISQPKYSRYPALREAISNQFIQFLKDATIPTNEFVVDIIKAEQTYINTAHPDLLKGSQAMVMVEEKLHPRQVAVDPKTGKPLPTQPSSSKAPVMEEKSGFFGGFFSTKNKKKLAALESPPPVLKATGQMTERETMETEVIKLLISSYFSIVKRTIADIIPKALMLKLIVKSKTDIQKVLLEKLYGKQDIEELTKENDITIQRRKECKKMVEILRNASQIVSSV", "length": 704, "header": "sp|P21576-1|VPS1_YEAST Isoform 1 of Vacuolar protein sorting-associated protein 1 OS=Saccharomyces cerevisiae S288C OX=559292 GN=VPS1 PE=1 SV=2 CANONICAL=P21576-1" }, "isoforms": [ { "isoform_ac": "P21576-1", "url": "", "sequence": { "sequence": "MDEHLISTINKLQDALAPLGGGSQSPIDLPQITVVGSQSSGKSSVLENIVGRDFLPRGTGIVTRRPLVLQLINRRPKKSEHAKVNQTANELIDLNINDDDKKKDESGKHQNEGQSEDNKEEWGEFLHLPGKKFYNFDEIRKEIVKETDKVTGANSGISSVPINLRIYSPHVLTLTLVDLPGLTKVPVGDQPPDIERQIKDMLLKYISKPNAIILSVNAANTDLANSDGLKLAREVDPEGTRTIGVLTKVDLMDQGTDVIDILAGRVIPLRYGYIPVINRGQKDIEHKKTIREALENERKFFENHPSYSSKAHYCGTPYLAKKLNSILLHHIRQTLPEIKAKIEATLKKYQNELINLGPETMDSASSVVLSMITDFSNEYAGILDGEAKELSSQELSGGARISYVFHETFKNGVDSLDPFDQIKDSDIRTIMYNSSGSAPSLFVGTEAFEVLVKQQIRRFEEPSLRLVTLVFDELVRMLKQIISQPKYSRYPALREAISNQFIQFLKDATIPTNEFVVDIIKAEQTYINTAHPDLLKGSQAMVMVEEKLHPRQVAVDPKTGKPLPTQPSSSKAPVMEEKSGFFGGFFSTKNKKKLAALESPPPVLKATGQMTERETMETEVIKLLISSYFSIVKRTIADIIPKALMLKLIVKSKTDIQKVLLEKLYGKQDIEELTKENDITIQRRKECKKMVEILRNASQIVSSV", "length": 704, "header": "sp|P21576-1|VPS1_YEAST Isoform 1 of Vacuolar protein sorting-associated protein 1 OS=Saccharomyces cerevisiae S288C OX=559292 GN=VPS1 PE=1 SV=2 CANONICAL=P21576-1" }, "locus": { "chromosome": "XI", "start_pos": 442722, "end_pos": 440611, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "YKR001C_mRNA", "url": "https://www.ensembl.org/id/YKR001C_mRNA" }, { "database": "Ensembl Peptide", "id": "YKR001C", "url": "https://www.ensembl.org/id/YKR001C" } ] } } ], "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 568, "start_aa": "Ser", "end_pos": 568, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser568", "evidence": [ { "id": "P21576", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/P21576" }, { "id": "33229814", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33229814" } ] }, { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 569, "start_aa": "Ser", "end_pos": 569, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser569", "evidence": [ { "id": "P21576", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/P21576" }, { "id": "33229814", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33229814" } ] }, { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 570, "start_aa": "Ser", "end_pos": 570, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser570", "evidence": [ { "id": "P21576", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/P21576" }, { "id": "33229814", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33229814" } ] }, { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "", "relation": "attached", "comment": "O-GlcNAcylation", "evidence": [ { "id": "P21576", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P21576" }, { "id": "33229814", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33229814" } ] } ], "phosphorylation": [ { "start_pos": 570, "end_pos": 570, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "SGD", "id": "P21576", "url": "https://www.yeastgenome.org/locus/P21576" }, { "database": "iPTMnet", "id": "P21576", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P21576" }, { "database": "PubMed", "id": "23749301", "url": "https://glygen.org/publication/PubMed/23749301" } ], "site_lbl": "Ser570" }, { "start_pos": 579, "end_pos": 579, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "P21576", "url": "https://www.uniprot.org/uniprot/P21576" }, { "database": "PubMed", "id": "18407956", "url": "https://glygen.org/publication/PubMed/18407956" }, { "database": "iPTMnet", "id": "P21576", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P21576" }, { "database": "PubMed", "id": "19779198", "url": "https://glygen.org/publication/PubMed/19779198" }, { "database": "SGD", "id": "P21576", "url": "https://www.yeastgenome.org/locus/P21576" } ], "site_lbl": "Ser579" }, { "start_pos": 599, "end_pos": 599, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "P21576", "url": "https://www.uniprot.org/uniprot/P21576" }, { "database": "PubMed", "id": "18407956", "url": "https://glygen.org/publication/PubMed/18407956" }, { "database": "PubMed", "id": "19779198", "url": "https://glygen.org/publication/PubMed/19779198" }, { "database": "iPTMnet", "id": "P21576", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P21576" }, { "database": "PubMed", "id": "15665377", "url": "https://glygen.org/publication/PubMed/15665377" }, { "database": "PubMed", "id": "17563356", "url": "https://glygen.org/publication/PubMed/17563356" }, { "database": "PubMed", "id": "19795423", "url": "https://glygen.org/publication/PubMed/19795423" }, { "database": "PubMed", "id": "19823750", "url": "https://glygen.org/publication/PubMed/19823750" }, { "database": "PubMed", "id": "20702584", "url": "https://glygen.org/publication/PubMed/20702584" }, { "database": "PubMed", "id": "21126336", "url": "https://glygen.org/publication/PubMed/21126336" }, { "database": "PubMed", "id": "21177495", "url": "https://glygen.org/publication/PubMed/21177495" }, { "database": "PubMed", "id": "26711254", "url": "https://glygen.org/publication/PubMed/26711254" }, { "database": "PubMed", "id": "31009484", "url": "https://glygen.org/publication/PubMed/31009484" }, { "database": "SGD", "id": "P21576", "url": "https://www.yeastgenome.org/locus/P21576" }, { "database": "PubMed", "id": "23749301", "url": "https://glygen.org/publication/PubMed/23749301" } ], "site_lbl": "Ser599" } ], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_reported_with_glycan" ], "publication": [ { "title": "DNA sequencing and analysis of a 24.7 kb segment encompassing centromere CEN11 of Saccharomyces cerevisiae reveals nine previously unknown open reading frames.", "journal": "Yeast", "date": "1992", "authors": "Duesterhoeft A., Philippsen P.", "evidence": [ { "database": "UniProtKB", "id": "P21576", "url": "https://www.uniprot.org/uniprot/P21576" } ], "reference": [ { "type": "PubMed", "id": "1441752", "url": "https://glygen.org/publication/PubMed/1441752" } ] }, { "title": "Global analysis of protein expression in yeast.", "journal": "Nature", "date": "2003", "authors": "Dephoure N., Weissman J.S., Howson R.W., Huh W.-K., O'Shea E.K., Belle A., Bower K., Ghaemmaghami S.", "evidence": [ { "database": "UniProtKB", "id": "P21576", "url": "https://www.uniprot.org/uniprot/P21576" } ], "reference": [ { "type": "PubMed", "id": "14562106", "url": "https://glygen.org/publication/PubMed/14562106" } ] }, { "title": "Quantitative phosphoproteomics applied to the yeast pheromone signaling pathway.", "journal": "Molecular & cellular proteomics : MCP", "date": "2005-03", "authors": "Gruhler Albrecht, Olsen Jesper V, Mohammed Shabaz, Mortensen Peter, Faergeman Nils J, Mann Matthias, Jensen Ole N", "evidence": [ { "database": "iPTMnet", "id": "P21576", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P21576" } ], "reference": [ { "type": "PubMed", "id": "15665377", "url": "https://glygen.org/publication/PubMed/15665377" } ] }, { "title": "Proteome-wide identification of in vivo targets of DNA damage checkpoint kinases.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2007-06-19", "authors": "Smolka Marcus B, Albuquerque Claudio P, Chen Sheng-hong, Zhou Huilin", "evidence": [ { "database": "iPTMnet", "id": "P21576", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P21576" } ], "reference": [ { "type": "PubMed", "id": "17563356", "url": "https://glygen.org/publication/PubMed/17563356" } ] }, { "title": "A dynamin-like protein encoded by the yeast sporulation gene SPO15.", "journal": "Nature", "date": "1991", "authors": "Yeh E.Y., Driscoll R., Bloom K.S., Coltrera M., Olins A.", "evidence": [ { "database": "UniProtKB", "id": "P21576", "url": "https://www.uniprot.org/uniprot/P21576" } ], "reference": [ { "type": "PubMed", "id": "1825352", "url": "https://glygen.org/publication/PubMed/1825352" } ] }, { "title": "A multidimensional chromatography technology for in-depth phosphoproteome analysis.", "journal": "Molecular & cellular proteomics : MCP", "date": "2008-07", "authors": "Albuquerque Claudio P, Smolka Marcus B, Payne Samuel H, Bafna Vineet, Eng Jimmy, Zhou Huilin", "evidence": [ { "database": "UniProtKB", "id": "P21576", "url": "https://www.uniprot.org/uniprot/P21576" }, { "database": "iPTMnet", "id": "P21576", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P21576" } ], "reference": [ { "type": "PubMed", "id": "18407956", "url": "https://glygen.org/publication/PubMed/18407956" } ] }, { "title": "Global analysis of Cdk1 substrate phosphorylation sites provides insights into evolution.", "journal": "Science (New York, N.Y.)", "date": "2009-09-25", "authors": "Holt Liam J, Tuch Brian B, Vill\u00e9n Judit, Johnson Alexander D, Gygi Steven P, Morgan David O", "evidence": [ { "database": "UniProtKB", "id": "P21576", "url": "https://www.uniprot.org/uniprot/P21576" }, { "database": "iPTMnet", "id": "P21576", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P21576" } ], "reference": [ { "type": "PubMed", "id": "19779198", "url": "https://glygen.org/publication/PubMed/19779198" } ] }, { "title": "High-accuracy identification and bioinformatic analysis of in vivo protein phosphorylation sites in yeast.", "journal": "Proteomics", "date": "2009-10", "authors": "Gnad Florian, de Godoy Lyris M F, Cox J\u00fcrgen, Neuhauser Nadin, Ren Shubin, Olsen Jesper V, Mann Matthias", "evidence": [ { "database": "iPTMnet", "id": "P21576", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P21576" } ], "reference": [ { "type": "PubMed", "id": "19795423", "url": "https://glygen.org/publication/PubMed/19795423" } ] }, { "title": "Global analysis of the yeast osmotic stress response by quantitative proteomics.", "journal": "Molecular bioSystems", "date": "2009-11", "authors": "Soufi Boumediene, Kelstrup Christian D, Stoehr Gabriele, Fr\u00f6hlich Florian, Walther Tobias C, Olsen Jesper V", "evidence": [ { "database": "iPTMnet", "id": "P21576", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P21576" } ], "reference": [ { "type": "PubMed", "id": "19823750", "url": "https://glygen.org/publication/PubMed/19823750" } ] }, { "title": "The rapamycin-sensitive phosphoproteome reveals that TOR controls protein kinase A toward some but not all substrates.", "journal": "Molecular biology of the cell", "date": "2010-10-01", "authors": "Soulard Alexandre, Cremonesi Alessio, Moes Suzette, Sch\u00fctz Fr\u00e9d\u00e9ric, Jen\u00f6 Paul, Hall Michael N", "evidence": [ { "database": "iPTMnet", "id": "P21576", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P21576" } ], "reference": [ { "type": "PubMed", "id": "20702584", "url": "https://glygen.org/publication/PubMed/20702584" } ] }, { "title": "A putative GTP binding protein homologous to interferon-inducible Mx proteins performs an essential function in yeast protein sorting.", "journal": "Cell", "date": "1990", "authors": "Raymond C.K., O'Hara P.J., Gilbert T., Rothman J.H., Stevens T.H.", "evidence": [ { "database": "UniProtKB", "id": "P21576", "url": "https://www.uniprot.org/uniprot/P21576" } ], "reference": [ { "type": "PubMed", "id": "2112425", "url": "https://glygen.org/publication/PubMed/2112425" } ] }, { "title": "Perturbation of the yeast N-acetyltransferase NatB induces elevation of protein phosphorylation levels.", "journal": "BMC genomics", "date": "2010-12-02", "authors": "Helbig Andreas O, Rosati Sara, Pijnappel Pim W W M, van Breukelen Bas, Timmers Marc H T H, Mohammed Shabaz, Slijper Monique, Heck Albert J R", "evidence": [ { "database": "iPTMnet", "id": "P21576", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P21576" } ], "reference": [ { "type": "PubMed", "id": "21126336", "url": "https://glygen.org/publication/PubMed/21126336" } ] }, { "title": "Phosphoproteomic analysis reveals interconnected system-wide responses to perturbations of kinases and phosphatases in yeast.", "journal": "Science signaling", "date": "2010-12-21", "authors": "Bodenmiller Bernd, Wanka Stefanie, Kraft Claudine, Urban J\u00f6rg, Campbell David, Pedrioli Patrick G, Gerrits Bertran, Picotti Paola, Lam Henry, Vitek Olga, Brusniak Mi-Youn, Roschitzki Bernd, Zhang Chao, Shokat Kevan M, Schlapbach Ralph, Colman-Lerner Alejandro, Nolan Garry P, Nesvizhskii Alexey I, Peter Matthias, Loewith Robbie, von Mering Christian, Aebersold Ruedi", "evidence": [ { "database": "iPTMnet", "id": "P21576", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P21576" } ], "reference": [ { "type": "PubMed", "id": "21177495", "url": "https://glygen.org/publication/PubMed/21177495" } ] }, { "title": "Global analysis of phosphorylation and ubiquitylation cross-talk in protein degradation.", "journal": "Nature methods", "date": "2013-07", "authors": "Swaney Danielle L, Beltrao Pedro, Starita Lea, Guo Ailan, Rush John, Fields Stanley, Krogan Nevan J, Vill\u00e9n Judit", "evidence": [ { "database": "iPTMnet", "id": "P21576", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P21576" } ], "reference": [ { "type": "PubMed", "id": "23749301", "url": "https://glygen.org/publication/PubMed/23749301" } ] }, { "title": "The reference genome sequence of Saccharomyces cerevisiae: Then and now.", "journal": "G3 (Bethesda)", "date": "2014", "authors": "Engel Stacia R, Dietrich Fred S, Fisk Dianna G, Binkley Gail, Balakrishnan Rama, Costanzo Maria C, Dwight Selina S, Hitz Benjamin C, Karra Kalpana, Nash Robert S, Weng Shuai, Wong Edith D, Lloyd Paul, Skrzypek Marek S, Miyasato Stuart R, Simison Matt, Cherry J Michael", "evidence": [ { "database": "UniProtKB", "id": "P21576", "url": "https://www.uniprot.org/uniprot/P21576" } ], "reference": [ { "type": "PubMed", "id": "24374639", "url": "https://glygen.org/publication/PubMed/24374639" } ] }, { "title": "Phosphorylation Regulates the Endocytic Function of the Yeast Dynamin-Related Protein Vps1.", "journal": "Molecular and cellular biology", "date": "2015-12-28", "authors": "Smaczynska-de Rooij Iwona I, Marklew Christopher J, Allwood Ellen G, Palmer Sarah E, Booth Wesley I, Mishra Ritu, Goldberg Martin W, Ayscough Kathryn R", "evidence": [ { "database": "iPTMnet", "id": "P21576", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P21576" } ], "reference": [ { "type": "PubMed", "id": "26711254", "url": "https://glygen.org/publication/PubMed/26711254" } ] }, { "title": "Mutation of key lysine residues in the Insert B region of the yeast dynamin Vps1 disrupts lipid binding and causes defects in endocytosis.", "journal": "PloS one", "date": "2019", "authors": "Smaczynska-de Rooij Iwona I, Marklew Christopher J, Palmer Sarah E, Allwood Ellen G, Ayscough Kathryn R", "evidence": [ { "database": "iPTMnet", "id": "P21576", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P21576" } ], "reference": [ { "type": "PubMed", "id": "31009484", "url": "https://glygen.org/publication/PubMed/31009484" } ] }, { "title": "Identification of novel O-GlcNAc transferase substrates using yeast cells expressing OGT.", "journal": "The Journal of general and applied microbiology", "date": "2021-04-16", "authors": "Li Feng, Yang Ganglong, Tachikawa Hiroyuki, Shao Kankai, Yang Yan, Gao Xiao-Dong, Nakanishi Hideki", "evidence": [ { "database": "O-GlcNAc Database", "id": "P21576", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P21576" }, { "database": "O-GlcNAc Atlas", "id": "P21576", "url": "https://oglcnac.org/atlas/detail/P21576" } ], "reference": [ { "type": "PubMed", "id": "33229814", "url": "https://glygen.org/publication/PubMed/33229814" } ] }, { "title": "Complete DNA sequence of yeast chromosome XI.", "journal": "Nature", "date": "1994", "authors": "Ansorge W., Duesterhoeft A., Mewes H.-W., Obermaier B., Wiemann S., Legrain P., Zimmermann J., Xu G., Rose M., Planta R.J., Colleaux L., Rieger M., Fukuhara H., Portetelle D., Mueller S., Becker I., Feldmann H., Kleine K., Gonzalez A., Hewitt N., Schwager C., Voss H., Jimenez A., Erfle H., Jauniaux J.-C., Jacquier A., Dion C., Maia e Silva A., Pallier C., Stegemann J., Andre B., Cheret G., Sor F., Haasemann M., Koetter P., Entian K.-D., Baladron V., Vilela C., Thierry A., Louis E.J., Hollenberg C.P., Marck C., Santos M.A., Soares H., Philippsen P., Poehlmann R., Vandenbol M., Domdey H., Garcia-Ramirez J.J., Pohl T.M., James C.M., Pfeiffer F., Ghazvini M., Ballesta J.P.G., Bossier P., Daignan-Fornier B., Dujon B., Esteban P.F., Fernandes L., Goffeau A., Hegemann J.H., Hilger F., Oliver S.G., Remacha M.A., Revuelta J.L., Rodrigues-Pousada C., Vissers S., del Rey F., van Dyck L., Alexandraki D., Bolotin-Fukuhara M., Duesterhus S., Guerreiro P., Kirchrath L., Purnelle B., Ramezani Rad M., Skala J., Tzermia M., Urrestarazu L.A., Banrevi A., Bolle P.-A., Bou G., Boyer J., Buitrago M.J., Fobo G.M., Fritz C., Gabel C., Gaillon L., Garcia-Cantalejo J.M., Gent M.E., Grothues D., Horaitis O., Indge K.J., Keuchel H., Liebl S., Moestl D., Monnier A.-L., Pascolo S., Pohl F.M., Puzos V., Rasmussen S.W., Richard G.-F., Rupp T., Sensen C., Tettelin H., Valens M., van Vliet-Reedijk J.C., von Wettstein D.", "evidence": [ { "database": "UniProtKB", "id": "P21576", "url": "https://www.uniprot.org/uniprot/P21576" } ], "reference": [ { "type": "PubMed", "id": "8196765", "url": "https://glygen.org/publication/PubMed/8196765" } ] }, { "title": "Vps1p, a member of the dynamin GTPase family, is necessary for Golgi membrane protein retention in Saccharomyces cerevisiae.", "journal": "EMBO J.", "date": "1993", "authors": "Payne G.S., Wilsbach K.", "evidence": [ { "database": "UniProtKB", "id": "P21576", "url": "https://www.uniprot.org/uniprot/P21576" } ], "reference": [ { "type": "PubMed", "id": "8344247", "url": "https://glygen.org/publication/PubMed/8344247" } ] } ], "pathway": [ { "id": "sce:YKR001C", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+sce:YKR001C", "resource": "KEGG Pathway" } ], "orthologs": [], "go_annotation": { "categories": [ { "name": "Biological Process", "total": 10, "go_terms": [ { "name": "vacuolar transport", "id": "GO:0007034", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007034", 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