{
    "uniprot_canonical_ac": "A0A0G2JSV3-1", 
    "ptm_annotation": [], 
    "sequence": {
        "header": "tr|A0A0G2JSV3-1|A0A0G2JSV3_RAT Isoform 1 of Ribose-phosphate diphosphokinase  OS=Rattus norvegicus OX=10116 GN=LOC314140 PE=1 SV=1 CANONICAL=A0A0G2JSV3-1", 
        "length": 318, 
        "sequence": "MPNIKIFSGSSHQDLSQKIADRLGLELGKVVTKKFSNQETCVEIGESVRGEDVYIVQSGCGEINDNLMELLIMINACKIASASRVTAVIPCFPYARQDKKDKSRAPISAKLVANMLSVAGADHIITMDLHASQIQGFFDIPVDNLYAEPAVLKWIRENISEWKNCTIVSPDAGGAKRVTSIADRLNVDFALIHKERKKANEVDRMVLVGDVKDRVAILVDDMADTCGTICHAADKLLSAGATRVYAILTHGIFSGPAISRINNACFEAVVVTNTIPQEDKMKHCSKIQVIDISMILAEAIRRTHNGESVSYLFSHVPL"
    }, 
    "uniprot_id": "A0A0G2JSV3_RAT", 
    "enzyme_annotation": [
        {
            "ec": "2.7.6.1", 
            "activity": ""
        }, 
        {
            "ec": "2.7.6.1", 
            "activity": "ATP + D-ribose 5-phosphate = AMP + 5-phospho-alpha-D-ribose 1-diphosphate."
        }
    ], 
    "glycation": [], 
    "keywords": [], 
    "species": [
        {
            "common_name": "Rat", 
            "evidence": [
                {
                    "url": "https://www.uniprot.org/uniprot/A0A0G2JSV3", 
                    "id": "A0A0G2JSV3", 
                    "database": "UniProtKB"
                }
            ], 
            "name": "Rattus norvegicus", 
            "taxid": 10116
        }
    ], 
    "publication": [], 
    "uniprot_ac": "A0A0G2JSV3", 
    "site_annotation": [
        {
            "end_pos": 160, 
            "annotation": "n_glycosylation_sequon", 
            "start_pos": 158
        }, 
        {
            "end_pos": 166, 
            "annotation": "n_glycosylation_sequon", 
            "start_pos": 164
        }
    ], 
    "isoforms": [
        {
            "url": "https://www.uniprot.org/uniprot/A0A0G2JSV3#A0A0G2JSV3-1", 
            "isoform_ac": "A0A0G2JSV3-1", 
            "locus": {
                "end_pos": 78179595, 
                "strand": "-", 
                "start_pos": 78180548, 
                "chromosome": "6", 
                "evidence": [
                    {
                        "url": "https://www.ensembl.org/id/ENSRNOT00000083110", 
                        "id": "ENSRNOT00000083110", 
                        "database": "Ensembl Transcript"
                    }, 
                    {
                        "url": "https://www.ensembl.org/id/ENSRNOP00000069706", 
                        "id": "ENSRNOP00000069706", 
                        "database": "Ensembl Peptide"
                    }
                ]
            }, 
            "sequence": {
                "header": "tr|A0A0G2JSV3-1|A0A0G2JSV3_RAT Isoform 1 of Ribose-phosphate diphosphokinase  OS=Rattus norvegicus OX=10116 GN=LOC314140 PE=1 SV=1 CANONICAL=A0A0G2JSV3-1", 
                "length": 318, 
                "sequence": "MPNIKIFSGSSHQDLSQKIADRLGLELGKVVTKKFSNQETCVEIGESVRGEDVYIVQSGCGEINDNLMELLIMINACKIASASRVTAVIPCFPYARQDKKDKSRAPISAKLVANMLSVAGADHIITMDLHASQIQGFFDIPVDNLYAEPAVLKWIRENISEWKNCTIVSPDAGGAKRVTSIADRLNVDFALIHKERKKANEVDRMVLVGDVKDRVAILVDDMADTCGTICHAADKLLSAGATRVYAILTHGIFSGPAISRINNACFEAVVVTNTIPQEDKMKHCSKIQVIDISMILAEAIRRTHNGESVSYLFSHVPL"
            }
        }
    ], 
    "pathway": [
        {
            "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+rno:314140", 
            "resource": "KEGG Pathway", 
            "id": "rno:314140", 
            "name": ""
        }, 
        {
            "url": "https://www.reactome.org/PathwayBrowser/#R-RNO-73843", 
            "resource": "Reactome", 
            "id": "R-RNO-73843", 
            "name": "5-Phosphoribose 1-diphosphate biosynthesis"
        }
    ], 
    "function": [
        {
            "url": "https://www.uniprot.org/uniprot/A0A0G2JSV3#function", 
            "annotation": "Catalyzes the synthesis of phosphoribosylpyrophosphate (PRPP) that is essential for nucleotide synthesis.", 
            "evidence": [
                {
                    "url": "https://www.uniprot.org/uniprot/A0A0G2JSV3#function", 
                    "id": "A0A0G2JSV3", 
                    "database": "UniProtKB"
                }
            ]
        }
    ], 
    "orthologs": [
        {
            "uniprot_canonical_ac": "G3UXL2-1", 
            "protein_name": "Ribose-phosphate diphosphokinase", 
            "sequence": {
                "length": 318, 
                "sequence": "MSNIKIFSGSSHQDLSQKIADRLGLELGKVVTKKFSNQETCVEIGESVRGEDVYIVQSGCGEINDNLMELLIMINACKIASASRVTAVIPCFPYARQDKKDKSRAPISAKLVANMLSVAGADHIITMDLHASQIQGFFDIPVDNLYAEPAVLKWIRENISEWRNCTIVSPDAGGAKRVTSIADRLNVDFALIHKERKKANEVDRMVLVGDVKDRVAILVDDMADTCGTICHAADKLLSAGATRVYAILTHGIFSGPAISRINNACFEAVVVTNTIPQEDKMKHCSKIQVIDISMILAEAIRRTHNGESVSYLFSHVPL"
            }, 
            "evidence": [
                {
                    "url": "http://www.informatics.jax.org/homology/68565", 
                    "id": "68565", 
                    "database": "MGI"
                }, 
                {
                    "url": "https://omabrowser.org/oma/group/A0A0G2JSV3/", 
                    "id": "A0A0G2JSV3", 
                    "database": "OMA"
                }
            ], 
            "common_name": "Mouse", 
            "organism": "Mus musculus", 
            "gene_name": "Prps1l3", 
            "tax_id": 10090
        }
    ], 
    "interactions": [], 
    "synthesized_glycans": [], 
    "snv": [], 
    "cluster_types": [
        {
            "name": "homologset.mgi", 
            "label": "MGI Homologs"
        }, 
        {
            "name": "homologset.oma", 
            "label": "OMA Homologs"
        }
    ], 
    "refseq": {
        "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001009694.1", 
        "ac": "NP_001009694.1", 
        "name": "ribose-phosphate pyrophosphokinase 1", 
        "summary": ""
    }, 
    "go_annotation": {
        "categories": [
            {
                "go_terms": [
                    {
                        "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", 
                        "pmid": "21873635", 
                        "evidence": [
                            {
                                "url": "https://www.uniprot.org/uniprot/A0A0G2JSV3", 
                                "id": "A0A0G2JSV3", 
                                "database": "UniProtKB"
                            }
                        ], 
                        "name": "ATP binding", 
                        "id": "GO:0005524"
                    }, 
                    {
                        "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004749", 
                        "pmid": "21873635", 
                        "evidence": [
                            {
                                "url": "https://www.uniprot.org/uniprot/A0A0G2JSV3", 
                                "id": "A0A0G2JSV3", 
                                "database": "UniProtKB"
                            }
                        ], 
                        "name": "ribose phosphate diphosphokinase activity", 
                        "id": "GO:0004749"
                    }, 
                    {
                        "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000287", 
                        "pmid": "", 
                        "evidence": [
                            {
                                "url": "https://www.uniprot.org/uniprot/A0A0G2JSV3", 
                                "id": "A0A0G2JSV3", 
                                "database": "UniProtKB"
                            }
                        ], 
                        "name": "magnesium ion binding", 
                        "id": "GO:0000287"
                    }, 
                    {
                        "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016301", 
                        "pmid": "", 
                        "evidence": [
                            {
                                "url": "https://www.uniprot.org/uniprot/A0A0G2JSV3", 
                                "id": "A0A0G2JSV3", 
                                "database": "UniProtKB"
                            }
                        ], 
                        "name": "kinase activity", 
                        "id": "GO:0016301"
                    }
                ], 
                "total": 4, 
                "name": "Molecular Function"
            }, 
            {
                "go_terms": [
                    {
                        "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002189", 
                        "pmid": "21873635", 
                        "evidence": [
                            {
                                "url": "https://www.uniprot.org/uniprot/A0A0G2JSV3", 
                                "id": "A0A0G2JSV3", 
                                "database": "UniProtKB"
                            }
                        ], 
                        "name": "ribose phosphate diphosphokinase complex", 
                        "id": "GO:0002189"
                    }, 
                    {
                        "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", 
                        "pmid": "21873635", 
                        "evidence": [
                            {
                                "url": "https://www.uniprot.org/uniprot/A0A0G2JSV3", 
                                "id": "A0A0G2JSV3", 
                                "database": "UniProtKB"
                            }
                        ], 
                        "name": "cytoplasm", 
                        "id": "GO:0005737"
                    }
                ], 
                "total": 2, 
                "name": "Cellular Component"
            }, 
            {
                "go_terms": [
                    {
                        "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006015", 
                        "pmid": "21873635", 
                        "evidence": [
                            {
                                "url": "https://www.uniprot.org/uniprot/A0A0G2JSV3", 
                                "id": "A0A0G2JSV3", 
                                "database": "UniProtKB"
                            }
                        ], 
                        "name": "5-phosphoribose 1-diphosphate biosynthetic process", 
                        "id": "GO:0006015"
                    }, 
                    {
                        "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006164", 
                        "pmid": "21873635", 
                        "evidence": [
                            {
                                "url": "https://www.uniprot.org/uniprot/A0A0G2JSV3", 
                                "id": "A0A0G2JSV3", 
                                "database": "UniProtKB"
                            }
                        ], 
                        "name": "purine nucleotide biosynthetic process", 
                        "id": "GO:0006164"
                    }, 
                    {
                        "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009165", 
                        "pmid": "21873635", 
                        "evidence": [
                            {
                                "url": "https://www.uniprot.org/uniprot/A0A0G2JSV3", 
                                "id": "A0A0G2JSV3", 
                                "database": "UniProtKB"
                            }
                        ], 
                        "name": "nucleotide biosynthetic process", 
                        "id": "GO:0009165"
                    }, 
                    {
                        "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009156", 
                        "pmid": "", 
                        "evidence": [
                            {
                                "url": "https://www.uniprot.org/uniprot/A0A0G2JSV3", 
                                "id": "A0A0G2JSV3", 
                                "database": "UniProtKB"
                            }
                        ], 
                        "name": "ribonucleoside monophosphate biosynthetic process", 
                        "id": "GO:0009156"
                    }, 
                    {
                        "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009116", 
                        "pmid": "", 
                        "evidence": [
                            {
                                "url": "https://www.uniprot.org/uniprot/A0A0G2JSV3", 
                                "id": "A0A0G2JSV3", 
                                "database": "UniProtKB"
                            }
                        ], 
                        "name": "nucleoside metabolic process", 
                        "id": "GO:0009116"
                    }
                ], 
                "total": 5, 
                "name": "Biological Process"
            }
        ]
    }, 
    "gene_names": [
        {
            "url": "https://www.ncbi.nlm.nih.gov/protein/A0A0G2JSV3", 
            "type": "synonym", 
            "resource": "RefSeq", 
            "name": "LOC314140"
        }, 
        {
            "url": "https://www.uniprot.org/uniprot/A0A0G2JSV3", 
            "type": "recommended", 
            "resource": "UniProtKB", 
            "name": "LOC314140"
        }
    ], 
    "pro_annotation": [], 
    "crossref": [
        {
            "url": "https://bgee.org/?page=gene&gene_id=ENSRNOG00000056011", 
            "id": "ENSRNOG00000056011", 
            "database": "Bgee"
        }, 
        {
            "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd06223", 
            "id": "cd06223", 
            "database": "CDD"
        }, 
        {
            "url": "https://www.ncbi.nlm.nih.gov/gene/314140", 
            "id": "314140", 
            "database": "GeneID"
        }, 
        {
            "url": "https://www.ebi.ac.uk/interpro/entry/IPR000836", 
            "id": "IPR000836", 
            "database": "InterPro"
        }, 
        {
            "url": "https://www.ebi.ac.uk/interpro/entry/IPR000842", 
            "id": "IPR000842", 
            "database": "InterPro"
        }, 
        {
            "url": "https://www.ebi.ac.uk/interpro/entry/IPR005946", 
            "id": "IPR005946", 
            "database": "InterPro"
        }, 
        {
            "url": "https://www.ebi.ac.uk/interpro/entry/IPR029057", 
            "id": "IPR029057", 
            "database": "InterPro"
        }, 
        {
            "url": "https://www.ebi.ac.uk/interpro/entry/IPR029099", 
            "id": "IPR029099", 
            "database": "InterPro"
        }, 
        {
            "url": "https://www.ebi.ac.uk/interpro/entry/IPR037515", 
            "id": "IPR037515", 
            "database": "InterPro"
        }, 
        {
            "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+rno:314140", 
            "id": "rno:314140", 
            "database": "KEGG Pathway"
        }, 
        {
            "url": "https://omabrowser.org/oma/group/DIYIIMQ/", 
            "id": "DIYIIMQ", 
            "database": "OMA"
        }, 
        {
            "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR10210", 
            "id": "PTHR10210", 
            "database": "PANTHER"
        }, 
        {
            "url": "http://pfam.xfam.org/family/PF13793", 
            "id": "PF13793", 
            "database": "Pfam"
        }, 
        {
            "url": "http://pfam.xfam.org/family/PF14572", 
            "id": "PF14572", 
            "database": "Pfam"
        }, 
        {
            "url": "https://www.reactome.org/PathwayBrowser/#R-RNO-73843", 
            "id": "R-RNO-73843", 
            "database": "Reactome"
        }, 
        {
            "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001009694.1", 
            "id": "NP_001009694.1", 
            "database": "RefSeq"
        }, 
        {
            "url": "http://rgd.mcw.edu/tools/genes/genes_view.cgi?id=1359636", 
            "id": "1359636", 
            "database": "RGD"
        }, 
        {
            "url": "https://www.uniprot.org/uniprot/A0A0G2JSV3", 
            "id": "A0A0G2JSV3", 
            "database": "UniProtKB"
        }
    ], 
    "expression_disease": [], 
    "glycosylation": [], 
    "mutagenesis": [], 
    "disease": [
        {
            "synonyms": [
                {
                    "id": "MONDO:0010533", 
                    "url": "https://monarchinitiative.org/disease/MONDO:0010533", 
                    "resource": "MONDO", 
                    "name": "mental retardation, X-linked, syndromic 18", 
                    "description": ""
                }, 
                {
                    "id": "MONDO:0010533", 
                    "url": "https://monarchinitiative.org/disease/MONDO:0010533", 
                    "resource": "MONDO", 
                    "name": "ataxia, fatal X-linked, with deafness and loss of vision", 
                    "description": ""
                }, 
                {
                    "id": "MONDO:0010533", 
                    "url": "https://monarchinitiative.org/disease/MONDO:0010533", 
                    "resource": "MONDO", 
                    "name": "mental retardation, X-linked, syndromic, Arts type", 
                    "description": ""
                }, 
                {
                    "id": "MONDO:0010533", 
                    "url": "https://monarchinitiative.org/disease/MONDO:0010533", 
                    "resource": "MONDO", 
                    "name": "MRXSARTS", 
                    "description": ""
                }, 
                {
                    "id": "MONDO:0010533", 
                    "url": "https://monarchinitiative.org/disease/MONDO:0010533", 
                    "resource": "MONDO", 
                    "name": "fatal X-linked ataxia with deafness and loss of vision", 
                    "description": ""
                }, 
                {
                    "id": "MONDO:0010533", 
                    "url": "https://monarchinitiative.org/disease/MONDO:0010533", 
                    "resource": "MONDO", 
                    "name": "Arts syndrome; Arts", 
                    "description": ""
                }, 
                {
                    "id": "MONDO:0010533", 
                    "url": "https://monarchinitiative.org/disease/MONDO:0010533", 
                    "resource": "MONDO", 
                    "name": "syndromic X-linked mental retardation 18", 
                    "description": ""
                }, 
                {
                    "id": "MONDO:0010533", 
                    "url": "https://monarchinitiative.org/disease/MONDO:0010533", 
                    "resource": "MONDO", 
                    "name": "Arts", 
                    "description": ""
                }, 
                {
                    "id": "MONDO:0010533", 
                    "url": "https://monarchinitiative.org/disease/MONDO:0010533", 
                    "resource": "MONDO", 
                    "name": "X-linked fatal ataxia with deafness and loss of vision", 
                    "description": ""
                }, 
                {
                    "id": "MONDO:0010533", 
                    "url": "https://monarchinitiative.org/disease/MONDO:0010533", 
                    "resource": "MONDO", 
                    "name": "MRXS18", 
                    "description": ""
                }, 
                {
                    "id": "MONDO:0010533", 
                    "url": "https://monarchinitiative.org/disease/MONDO:0010533", 
                    "resource": "MONDO", 
                    "name": "syndromic X-linked mental retardation Arts type", 
                    "description": ""
                }, 
                {
                    "id": "MONDO:0010533", 
                    "url": "https://monarchinitiative.org/disease/MONDO:0010533", 
                    "resource": "MONDO", 
                    "name": "lethal ataxia with deafness and optic atrophy", 
                    "description": ""
                }, 
                {
                    "id": "MONDO:0010533", 
                    "url": "https://monarchinitiative.org/disease/MONDO:0010533", 
                    "resource": "MONDO", 
                    "name": "lethal ataxia-deafness-optic atrophy", 
                    "description": ""
                }, 
                {
                    "id": "DOID:0050647", 
                    "url": "http://disease-ontology.org/term/DOID:0050647", 
                    "resource": "Disease Ontology", 
                    "name": "fatal X-linked ataxia with deafness and loss of vision", 
                    "description": ""
                }, 
                {
                    "id": "DOID:0050647", 
                    "url": "http://disease-ontology.org/term/DOID:0050647", 
                    "resource": "Disease Ontology", 
                    "name": "ARTS", 
                    "description": ""
                }, 
                {
                    "id": "DOID:0050647", 
                    "url": "http://disease-ontology.org/term/DOID:0050647", 
                    "resource": "Disease Ontology", 
                    "name": "Lethal ataxia with deafness and optic atrophy", 
                    "description": ""
                }, 
                {
                    "id": "DOID:0050647", 
                    "url": "http://disease-ontology.org/term/DOID:0050647", 
                    "resource": "Disease Ontology", 
                    "name": "MRXS18", 
                    "description": ""
                }, 
                {
                    "id": "DOID:0050647", 
                    "url": "http://disease-ontology.org/term/DOID:0050647", 
                    "resource": "Disease Ontology", 
                    "name": "MRXSARTS", 
                    "description": ""
                }, 
                {
                    "id": "DOID:0050647", 
                    "url": "http://disease-ontology.org/term/DOID:0050647", 
                    "resource": "Disease Ontology", 
                    "name": "syndromic X-linked mental retardation 18", 
                    "description": ""
                }, 
                {
                    "id": "DOID:0050647", 
                    "url": "http://disease-ontology.org/term/DOID:0050647", 
                    "resource": "Disease Ontology", 
                    "name": "syndromic X-linked mental retardation Arts type", 
                    "description": ""
                }
            ], 
            "recommended_name": {
                "id": "DOID:0050647", 
                "url": "http://disease-ontology.org/term/DOID:0050647", 
                "resource": "Disease Ontology", 
                "name": "Arts syndrome", 
                "description": "An X-linked disease that is characterized by profound congenital sensorineural hearing impairment, early-onset hypotonia, delayed motor development, mild to moderate intellectual disability, ataxia, and increased risk of infection and has_material_basis_in mutations of the PRPS1 gene."
            }, 
            "evidence": [
                {
                    "url": "https://www.alliancegenome.org/gene/0050647#disease-associations", 
                    "id": "0050647", 
                    "database": "Alliance of Genome Resources"
                }
            ]
        }, 
        {
            "synonyms": [
                {
                    "id": "MONDO:0010699", 
                    "url": "https://monarchinitiative.org/disease/MONDO:0010699", 
                    "resource": "MONDO", 
                    "name": "CMT5X", 
                    "description": ""
                }, 
                {
                    "id": "MONDO:0010699", 
                    "url": "https://monarchinitiative.org/disease/MONDO:0010699", 
                    "resource": "MONDO", 
                    "name": "Charcot-Marie-Tooth disease, X-linked recessive, type 5", 
                    "description": ""
                }, 
                {
                    "id": "MONDO:0010699", 
                    "url": "https://monarchinitiative.org/disease/MONDO:0010699", 
                    "resource": "MONDO", 
                    "name": "optic atrophy, polyneuropathy, and deafness", 
                    "description": ""
                }, 
                {
                    "id": "MONDO:0010699", 
                    "url": "https://monarchinitiative.org/disease/MONDO:0010699", 
                    "resource": "MONDO", 
                    "name": "optic atrophy, sensorineural hearing loss and polyneuropathy", 
                    "description": ""
                }, 
                {
                    "id": "MONDO:0010699", 
                    "url": "https://monarchinitiative.org/disease/MONDO:0010699", 
                    "resource": "MONDO", 
                    "name": "Charcot-Marie-Tooth disease X-linked recessive type 5", 
                    "description": ""
                }, 
                {
                    "id": "MONDO:0010699", 
                    "url": "https://monarchinitiative.org/disease/MONDO:0010699", 
                    "resource": "MONDO", 
                    "name": "X-linked Charcot-Marie-Tooth disease type 5", 
                    "description": ""
                }, 
                {
                    "id": "MONDO:0010699", 
                    "url": "https://monarchinitiative.org/disease/MONDO:0010699", 
                    "resource": "MONDO", 
                    "name": "Charcot-Marie-Tooth disease, X-linked recessive, 5", 
                    "description": ""
                }, 
                {
                    "id": "MONDO:0010699", 
                    "url": "https://monarchinitiative.org/disease/MONDO:0010699", 
                    "resource": "MONDO", 
                    "name": "Charcot-Marie-Tooth neuropathy X type 5", 
                    "description": ""
                }, 
                {
                    "id": "MONDO:0010699", 
                    "url": "https://monarchinitiative.org/disease/MONDO:0010699", 
                    "resource": "MONDO", 
                    "name": "CMTX5", 
                    "description": ""
                }, 
                {
                    "id": "MONDO:0010699", 
                    "url": "https://monarchinitiative.org/disease/MONDO:0010699", 
                    "resource": "MONDO", 
                    "name": "Charcot-Marie-Tooth neuropathy X-linked recessive 5", 
                    "description": ""
                }, 
                {
                    "id": "MONDO:0010699", 
                    "url": "https://monarchinitiative.org/disease/MONDO:0010699", 
                    "resource": "MONDO", 
                    "name": "familial opticoacoustic nerve degeneration and polyneuropathy", 
                    "description": ""
                }, 
                {
                    "id": "MONDO:0010699", 
                    "url": "https://monarchinitiative.org/disease/MONDO:0010699", 
                    "resource": "MONDO", 
                    "name": "Charcot-Marie-Tooth neuropathy, X-linked recessive, 5", 
                    "description": ""
                }, 
                {
                    "id": "MONDO:0010699", 
                    "url": "https://monarchinitiative.org/disease/MONDO:0010699", 
                    "resource": "MONDO", 
                    "name": "Rosenberg-Chutorian syndrome", 
                    "description": ""
                }, 
                {
                    "id": "MONDO:0010699", 
                    "url": "https://monarchinitiative.org/disease/MONDO:0010699", 
                    "resource": "MONDO", 
                    "name": "Charcot-Marie-Tooth disease, X-linked recessive, 5; CMTX5", 
                    "description": ""
                }, 
                {
                    "id": "DOID:0110210", 
                    "url": "http://disease-ontology.org/term/DOID:0110210", 
                    "resource": "Disease Ontology", 
                    "name": "Charcot-Marie-Tooth neuropathy X-linked recessive 5", 
                    "description": ""
                }, 
                {
                    "id": "DOID:0110210", 
                    "url": "http://disease-ontology.org/term/DOID:0110210", 
                    "resource": "Disease Ontology", 
                    "name": "CMT5X", 
                    "description": ""
                }, 
                {
                    "id": "DOID:0110210", 
                    "url": "http://disease-ontology.org/term/DOID:0110210", 
                    "resource": "Disease Ontology", 
                    "name": "CMTX5", 
                    "description": ""
                }, 
                {
                    "id": "DOID:0110210", 
                    "url": "http://disease-ontology.org/term/DOID:0110210", 
                    "resource": "Disease Ontology", 
                    "name": "Rosenberg-Chutorian syndrome", 
                    "description": ""
                }, 
                {
                    "id": "DOID:0110210", 
                    "url": "http://disease-ontology.org/term/DOID:0110210", 
                    "resource": "Disease Ontology", 
                    "name": "X-linked Charcot-Marie-Tooth disease type 5", 
                    "description": ""
                }, 
                {
                    "id": "DOID:0110210", 
                    "url": "http://disease-ontology.org/term/DOID:0110210", 
                    "resource": "Disease Ontology", 
                    "name": "optic atrophy, polyneuropathy, and deafness", 
                    "description": ""
                }
            ], 
            "recommended_name": {
                "id": "DOID:0110210", 
                "url": "http://disease-ontology.org/term/DOID:0110210", 
                "resource": "Disease Ontology", 
                "name": "Charcot-Marie-Tooth disease X-linked recessive 5", 
                "description": "A Charcot-Marie-Tooth disease X-linked that has_material_basis_in loss-of-function mutation in the PRPS1 gene on chromosome Xq22."
            }, 
            "evidence": [
                {
                    "url": "https://www.alliancegenome.org/gene/0110210#disease-associations", 
                    "id": "0110210", 
                    "database": "Alliance of Genome Resources"
                }
            ]
        }, 
        {
            "synonyms": [
                {
                    "id": "MONDO:0010395", 
                    "url": "https://monarchinitiative.org/disease/MONDO:0010395", 
                    "resource": "MONDO", 
                    "name": "PRPS1 superactivity", 
                    "description": ""
                }, 
                {
                    "id": "MONDO:0010395", 
                    "url": "https://monarchinitiative.org/disease/MONDO:0010395", 
                    "resource": "MONDO", 
                    "name": "gout, PRPS-related", 
                    "description": ""
                }, 
                {
                    "id": "MONDO:0010395", 
                    "url": "https://monarchinitiative.org/disease/MONDO:0010395", 
                    "resource": "MONDO", 
                    "name": "PRPP synthetase superactivity", 
                    "description": ""
                }, 
                {
                    "id": "DOID:0111260", 
                    "url": "http://disease-ontology.org/term/DOID:0111260", 
                    "resource": "Disease Ontology", 
                    "name": "PRPP synthetase superactivity", 
                    "description": ""
                }, 
                {
                    "id": "DOID:0111260", 
                    "url": "http://disease-ontology.org/term/DOID:0111260", 
                    "resource": "Disease Ontology", 
                    "name": "PRPS1 superactivity", 
                    "description": ""
                }
            ], 
            "recommended_name": {
                "id": "DOID:0111260", 
                "url": "http://disease-ontology.org/term/DOID:0111260", 
                "resource": "Disease Ontology", 
                "name": "phosphoribosylpyrophosphate synthetase superactivity", 
                "description": "An inherited metabolic disorder characterized by increased synthesis of phosphoribosylpyrophosphate resulting in increased production of uric acid and purine that has_material_basis_in X-linked recessive inheritance of mutations in PRPS1 on Xq22.3 that result in increased activity of the gene. The mild form of the disease has late-juvenile or early adult onset while the more severe form has infantile or early-childhood onset."
            }, 
            "evidence": [
                {
                    "url": "https://www.alliancegenome.org/gene/0111260#disease-associations", 
                    "id": "0111260", 
                    "database": "Alliance of Genome Resources"
                }
            ]
        }, 
        {
            "synonyms": [
                {
                    "id": "MONDO:0010577", 
                    "url": "https://monarchinitiative.org/disease/MONDO:0010577", 
                    "resource": "MONDO", 
                    "name": "deafness, X-linked 1", 
                    "description": ""
                }, 
                {
                    "id": "MONDO:0010577", 
                    "url": "https://monarchinitiative.org/disease/MONDO:0010577", 
                    "resource": "MONDO", 
                    "name": "deafness, X-linked 2, sensorineural congenital", 
                    "description": ""
                }, 
                {
                    "id": "MONDO:0010577", 
                    "url": "https://monarchinitiative.org/disease/MONDO:0010577", 
                    "resource": "MONDO", 
                    "name": "deafness, X-linked type 1", 
                    "description": ""
                }, 
                {
                    "id": "MONDO:0010577", 
                    "url": "https://monarchinitiative.org/disease/MONDO:0010577", 
                    "resource": "MONDO", 
                    "name": "deafness, X-linked 1; DFNX1", 
                    "description": ""
                }, 
                {
                    "id": "MONDO:0010577", 
                    "url": "https://monarchinitiative.org/disease/MONDO:0010577", 
                    "resource": "MONDO", 
                    "name": "DFNX1", 
                    "description": ""
                }, 
                {
                    "id": "DOID:0111739", 
                    "url": "http://disease-ontology.org/term/DOID:0111739", 
                    "resource": "Disease Ontology", 
                    "name": "DFN2", 
                    "description": ""
                }, 
                {
                    "id": "DOID:0111739", 
                    "url": "http://disease-ontology.org/term/DOID:0111739", 
                    "resource": "Disease Ontology", 
                    "name": "DFNX1", 
                    "description": ""
                }, 
                {
                    "id": "DOID:0111739", 
                    "url": "http://disease-ontology.org/term/DOID:0111739", 
                    "resource": "Disease Ontology", 
                    "name": "X-linked sensorineural congenital deafness 2", 
                    "description": ""
                }
            ], 
            "recommended_name": {
                "id": "DOID:0111739", 
                "url": "http://disease-ontology.org/term/DOID:0111739", 
                "resource": "Disease Ontology", 
                "name": "X-linked deafness 1", 
                "description": "An X-linked nonsyndromic deafness characterized by congenital profound sensorineural hearing loss in males and mild to moderate high-frequency hearing loss in heterozygous females that has_material_basis_in mutation in PRPS1 on chromosome Xq22.3."
            }, 
            "evidence": [
                {
                    "url": "https://www.alliancegenome.org/gene/0111739#disease-associations", 
                    "id": "0111739", 
                    "database": "Alliance of Genome Resources"
                }
            ]
        }, 
        {
            "synonyms": [
                {
                    "id": "MONDO:0019200", 
                    "url": "https://monarchinitiative.org/disease/MONDO:0019200", 
                    "resource": "MONDO", 
                    "name": "pericentral pigmentary retinopathy", 
                    "description": ""
                }, 
                {
                    "id": "MONDO:0019200", 
                    "url": "https://monarchinitiative.org/disease/MONDO:0019200", 
                    "resource": "MONDO", 
                    "name": "Rod-cone dystrophy", 
                    "description": ""
                }, 
                {
                    "id": "DOID:10584", 
                    "url": "http://disease-ontology.org/term/DOID:10584", 
                    "resource": "Disease Ontology", 
                    "name": "pericentral pigmentary retinopathy", 
                    "description": ""
                }
            ], 
            "recommended_name": {
                "id": "DOID:10584", 
                "url": "http://disease-ontology.org/term/DOID:10584", 
                "resource": "Disease Ontology", 
                "name": "retinitis pigmentosa", 
                "description": "A retinal degeneration characterized by the gradual deterioration of the photoreceptors or the retinal pigment epithelium of the retina leading to progressive sight loss."
            }, 
            "evidence": [
                {
                    "url": "https://www.alliancegenome.org/gene/10584#disease-associations", 
                    "id": "10584", 
                    "database": "Alliance of Genome Resources"
                }
            ]
        }, 
        {
            "synonyms": [
                {
                    "id": "DOID:13189", 
                    "url": "http://disease-ontology.org/term/DOID:13189", 
                    "resource": "Disease Ontology", 
                    "name": "Articular gout", 
                    "description": ""
                }, 
                {
                    "id": "DOID:13189", 
                    "url": "http://disease-ontology.org/term/DOID:13189", 
                    "resource": "Disease Ontology", 
                    "name": "Gouty arthropathy", 
                    "description": ""
                }, 
                {
                    "id": "DOID:13189", 
                    "url": "http://disease-ontology.org/term/DOID:13189", 
                    "resource": "Disease Ontology", 
                    "name": "gouty arthritis", 
                    "description": ""
                }
            ], 
            "recommended_name": {
                "id": "DOID:13189", 
                "url": "http://disease-ontology.org/term/DOID:13189", 
                "resource": "Disease Ontology", 
                "name": "gout", 
                "description": "An arthritis that has_material_basis_in uric acid crystal deposits located_in joint."
            }, 
            "evidence": [
                {
                    "url": "https://www.alliancegenome.org/gene/13189#disease-associations", 
                    "id": "13189", 
                    "database": "Alliance of Genome Resources"
                }
            ]
        }
    ], 
    "phosphorylation": [], 
    "mass": {
        "monoisotopic_mass": 34806.0, 
        "chemical_mass": 34806.0
    }, 
    "expression_tissue": [], 
    "gene": [
        {
            "url": "https://www.uniprot.org/uniprot/A0A0G2JSV3", 
            "name": "LOC314140", 
            "locus": {
                "end_pos": 78180924, 
                "strand": "+", 
                "start_pos": 78172762, 
                "chromosome": "6", 
                "evidence": [
                    {
                        "url": "https://www.ensembl.org/id/ENSRNOG00000056011", 
                        "id": "ENSRNOG00000056011", 
                        "database": "Ensembl Gene"
                    }
                ]
            }
        }
    ], 
    "protein_names": [
        {
            "url": "https://www.uniprot.org/uniprot/A0A0G2JSV3#names_and_taxonomy", 
            "type": "synonym", 
            "resource": "UniProtKB", 
            "name": "2.7.6.1"
        }, 
        {
            "url": "https://www.uniprot.org/uniprot/A0A0G2JSV3#names_and_taxonomy", 
            "type": "recommended", 
            "resource": "UniProtKB", 
            "name": "Ribose-phosphate diphosphokinase"
        }, 
        {
            "url": "https://www.ncbi.nlm.nih.gov/protein/A0A0G2JSV3", 
            "type": "synonym", 
            "resource": "RefSeq", 
            "name": "ribose-phosphate pyrophosphokinase 1"
        }
    ]
}