{ "disease_id": "DOID:0110033", "recommended_name": { "id": "DOID:0110033", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110033", "name": "autosomal recessive Alport syndrome", "description": "An Alport syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the COL4A3 or the COL4A4 gene, both of which map to chromosome 2q." }, "synonyms": [ { "id": "MONDO:0008762", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008762", "name": "autosomal recessive Alport syndrome", "description": "Autosomal recessive Alport syndrome isa genetic condition characterized by kidney disease, hearing loss, and eye abnormalities. Most affected individuals experience progressive loss of kidney function, usually resulting in end-stage kidney disease. People with Alport syndrome frequently develop sensorineural hearing loss in late childhood or early adolescence. The eye abnormalities seen in this condition seldom lead to vision loss. Alport syndrome can have different patterns of inheritance. About15 percentof Alport syndrome cases are inherited in an autosomal recessive pattern and are caused bymutations in both copies of the COL4A3 or COL4A4 genes. Treatment is based on the symptoms present and may include medications to delay the progression of kidney disease. In most cases, a kidney transplant is eventually needed." }, { "id": "MONDO:0008762", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008762", "name": "Alport syndrome 2, autosomal recessive", "description": "" }, { "id": "MONDO:0008762", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008762", "name": "Alport syndrome, autosomal recessive", "description": "" }, { "id": "MONDO:0008762", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008762", "name": "Alport syndrome autosomal recessive", "description": "" }, { "id": "MONDO:0008762", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008762", "name": "Alport syndrome recessive type", "description": "" }, { "id": "MONDO:0008762", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008762", "name": "nephropathy and deafness", "description": "" }, { "id": "MIM:203780", "resource": "MIM", "url": "https://www.omim.org/entry/203780", "name": "Alport syndrome 2, autosomal recessive", "description": "Alport syndrome 2, autosomal recessive" } ], "children": [], "id_list": [ "DOID:0110033" ], "unlinked_id_list": [], "crossref": [ { "id": "DOID:0110033", "database": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110033", "categories": [] }, { "id": "MONDO:0008762", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008762", "categories": [] }, { "id": "MIM:203780", "database": "MIM", "url": "https://www.omim.org/entry/203780", "categories": [] } ], "proteins": [ { "uniprot_canonical_ac": "P08120-1", "uniprot_ac": "P08120", "uniprot_id": "CO4A1_DROME", "refseq_ac": "NP_723044", "glycoprotein": "yes", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "Collagen alpha-1(IV) chain", "resource": "UniProtKB", "type": "recommended" }, { "name": "CG4145-PA; Col4a1-PA; collagenIV a1; collagen type IV; collagen IV; collagen IV alpha1; laminin alpha3,5; type IV collagen, alpha-chain; preprocollagen alpha1(IV); collagen IVa1; procollagen IV", "resource": "RefSeq", "type": "synonym" }, { "name": "Collagen type IV alpha 1", "resource": "UniProtKB", "type": "synonym" }, { "name": "collagen type IV alpha 1, isoform A", "resource": "RefSeq", "type": "synonym" } ], "gene_names": [ { "name": "Col4a1", "resource": "UniProtKB", "type": "recommended" }, { "name": "CG4145", "resource": "UniProtKB", "type": "synonym" }, { "name": "Cg25C", "resource": "UniProtKB", "type": "synonym" }, { "name": "Col4a1", "resource": "RefSeq", "type": "synonym" }, { "name": "DCg1", "resource": "UniProtKB", "type": "synonym" }, { "name": "alpha(IV)1/Cg25C; alpha1; cg25c; cg25C; Cg25c; Cg25C; CG25C; CG4145; Cgc25; Cgc25C; Col IV alpha(1); col4a1; Col4A1; COL4A1; Col4alpha1; ColIValpha1; Coll; Coll IV; CT12803; Dcg; Dcg-1; dcg1; Dcg1; DCg1; Dmel\\CG4145; gp125", "resource": "RefSeq", "type": "synonym" } ], "evidence": [ { "id": "0110033", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0110033" } ] }, { "uniprot_canonical_ac": "Q9V492-1", "uniprot_ac": "Q9V492", "uniprot_id": "MPV17_DROME", "refseq_ac": "NP_651944", "glycoprotein": "no", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "Mitochondrial inner membrane protein Mpv17", "resource": "UniProtKB", "type": "recommended" }, { "name": "CG11077-PA; Mpv17-PA", "resource": "RefSeq", "type": "synonym" }, { "name": "Mpv17-like protein", "resource": "UniProtKB", "type": "synonym" }, { "name": "dMpv17", "resource": "UniProtKB", "type": "synonym" }, { "name": "mitochondrial inner membrane protein MPV17", "resource": "RefSeq", "type": "synonym" } ], "gene_names": [ { "name": "Mpv17", "resource": "UniProtKB", "type": "recommended" }, { "name": "CG11077; Dmel\\CG11077; dMpv17; MPV17; PMP22", "resource": "RefSeq", "type": "synonym" }, { "name": "CG11077", "resource": "UniProtKB", "type": "synonym" }, { "name": "Mpv17", "resource": "RefSeq", "type": "synonym" } ], "evidence": [ { "id": "0110033", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0110033" } ] }, { "uniprot_canonical_ac": "Q9QZR9-1", "uniprot_ac": "Q9QZR9", "uniprot_id": "CO4A4_MOUSE", "refseq_ac": "NP_031761", "glycoprotein": "yes", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Collagen alpha-4(IV) chain", "resource": "UniProtKB", "type": "recommended" }, { "name": "collagen alpha-4(IV) chain precursor", "resource": "RefSeq", "type": "synonym" }, { "name": "collagen alpha-4(IV) chain; procollagen, type IV, alpha 4", "resource": "RefSeq", "type": "synonym" } ], "gene_names": [ { "name": "Col4a4", "resource": "UniProtKB", "type": "recommended" }, { "name": "Col4a4", "resource": "RefSeq", "type": "synonym" }, { "name": "E130010M05Rik; [a]4(IV)", "resource": "RefSeq", "type": "synonym" } ], "evidence": [ { "id": "0110033", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0110033" } ] }, { "uniprot_canonical_ac": "P19258-1", "uniprot_ac": "P19258", "uniprot_id": "MPV17_MOUSE", "refseq_ac": "NP_001281253", "glycoprotein": "no", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Mitochondrial inner membrane protein Mpv17", "resource": "UniProtKB", "type": "recommended" }, { "name": "Mpv-17", "resource": "UniProtKB", "type": "synonym" }, { "name": "Protein Mpv17", "resource": "UniProtKB", "type": "synonym" }, { "name": "mitochondrial inner membrane protein Mpv17 isoform 1", "resource": "RefSeq", "type": "synonym" }, { "name": "protein Mpv17; mitochondrial inner membrane protein Mpv17", "resource": "RefSeq", "type": "synonym" } ], "gene_names": [ { "name": "Mpv17", "resource": "UniProtKB", "type": "recommended" }, { "name": "Mpv17", "resource": "RefSeq", "type": "synonym" }, { "name": "Tg.Mpv17", "resource": "RefSeq", "type": "synonym" } ], "evidence": [ { "id": "0110033", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0110033" } ] }, { "uniprot_canonical_ac": "Q9QZS0-1", "uniprot_ac": "Q9QZS0", "uniprot_id": "CO4A3_MOUSE", "refseq_ac": "NP_031760", "glycoprotein": "yes", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Collagen alpha-3(IV) chain", "resource": "UniProtKB", "type": "recommended" }, { "name": "collagen alpha-3(IV) chain precursor", "resource": "RefSeq", "type": "synonym" }, { "name": "tumstatin; collagen alpha-3(IV) chain; collagen type IV alpha3 chain; procollagen, type IV, alpha 3", "resource": "RefSeq", "type": "synonym" } ], "gene_names": [ { "name": "Col4a3", "resource": "UniProtKB", "type": "recommended" }, { "name": "Col4a3", "resource": "RefSeq", "type": "synonym" }, { "name": "alpha3(IV); [a]3(IV)", "resource": "RefSeq", "type": "synonym" } ], "evidence": [ { "id": "0110033", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0110033" } ] }, { "uniprot_canonical_ac": "Q06563-1", "uniprot_ac": "Q06563", "uniprot_id": "SYM1_YEAST", "refseq_ac": "NP_013352", "glycoprotein": "no", "species": [ { "name": "Saccharomyces cerevisiae S288C", "taxid": 559292, "common_name": "Baker's yeast", "glygen_name": "Yeast", "reference_species": "Saccharomyces cerevisiae S288C [559292]" } ], "protein_names": [ { "name": "Protein SYM1", "resource": "UniProtKB", "type": "recommended" }, { "name": "Stress-inducible yeast MPV17 protein 1", "resource": "UniProtKB", "type": "synonym" }, { "name": "ethanol metabolism protein", "resource": "RefSeq", "type": "synonym" } ], "gene_names": [ { "name": "SYM1", "resource": "UniProtKB", "type": "recommended" }, { "name": "SYM1", "resource": "RefSeq", "type": "synonym" } ], "evidence": [ { "id": "0110033", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0110033" } ] }, { "uniprot_canonical_ac": "Q01955-1", "uniprot_ac": "Q01955", "uniprot_id": "CO4A3_HUMAN", "refseq_ac": "NP_000082", "glycoprotein": "yes", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "Collagen alpha-3(IV) chain", "resource": "UniProtKB", "type": "recommended" }, { "name": "Goodpasture antigen", "resource": "UniProtKB", "type": "synonym" }, { "name": "collagen alpha-3(IV) chain precursor", "resource": "RefSeq", "type": "synonym" }, { "name": "collagen alpha-3(IV) chain; collagen IV, alpha-3 polypeptide; tumstatin; collagen, type IV, alpha 3 (Goodpasture antigen)", "resource": "RefSeq", "type": "synonym" } ], "gene_names": [ { "name": "COL4A3", "resource": "UniProtKB", "type": "recommended" }, { "name": "ATS2; ATS3; ATS3A; ATS3B; BFH2", "resource": "RefSeq", "type": "synonym" }, { "name": "COL4A3", "resource": "RefSeq", "type": "synonym" } ], "evidence": [ { "id": "0110033", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0110033" } ] }, { "uniprot_canonical_ac": "P53420-1", "uniprot_ac": "P53420", "uniprot_id": "CO4A4_HUMAN", "refseq_ac": "NP_000083", "glycoprotein": "yes", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "Collagen alpha-4(IV) chain", "resource": "UniProtKB", "type": "recommended" }, { "name": "Collagen IV, alpha-4 polypeptide; collagen of basement membrane, alpha-4 chain; collagen, type IV, alpha 4; collagen alpha-4(IV) chain", "resource": "RefSeq", "type": "synonym" }, { "name": "collagen alpha-4(IV) chain precursor", "resource": "RefSeq", "type": "synonym" } ], "gene_names": [ { "name": "COL4A4", "resource": "UniProtKB", "type": "recommended" }, { "name": "ATS2; BFH; BFH1; CA44", "resource": "RefSeq", "type": "synonym" }, { "name": "COL4A4", "resource": "RefSeq", "type": "synonym" } ], "evidence": [ { "id": "0110033", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0110033" }, { "id": "203780", "database": "MIM", "url": "https://www.omim.org/entry/203780" } ] }, { "uniprot_canonical_ac": "P39210-1", "uniprot_ac": "P39210", "uniprot_id": "MPV17_HUMAN", "refseq_ac": "NP_002428", "glycoprotein": "no", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "Mitochondrial inner membrane protein Mpv17", "resource": "UniProtKB", "type": "recommended" }, { "name": "Mpv17, human homolog of glomerulosclerosis and nephrotic syndrome; protein Mpv17; MpV17 mitochondrial inner membrane protein; MPV17, mitochondrial inner membrane protein", "resource": "RefSeq", "type": "synonym" }, { "name": "Protein Mpv17", "resource": "UniProtKB", "type": "synonym" }, { "name": "mitochondrial inner membrane protein Mpv17", "resource": "RefSeq", "type": "synonym" } ], "gene_names": [ { "name": "MPV17", "resource": "UniProtKB", "type": "recommended" }, { "name": "CMT2EE; MTDPS6; SYM1", "resource": "RefSeq", "type": "synonym" }, { "name": "MPV17", "resource": "RefSeq", "type": "synonym" }, { "name": "hCG_23713", "resource": "UniProtKB", "type": "synonym" } ], "evidence": [ { "id": "0110033", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0110033" } ] }, { "uniprot_canonical_ac": "A0A8N7TBD4-1", "uniprot_ac": "A0A8N7TBD4", "uniprot_id": "A0A8N7TBD4_DANRE", "refseq_ac": "XP_694013", "glycoprotein": "yes", "species": [ { "name": "Danio rerio", "taxid": 7955, "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "protein_names": [ { "name": "Collagen alpha-5(IV) chain", "resource": "UniProtKB", "type": "synonym" }, { "name": "collagen alpha-5(IV) chain", "resource": "RefSeq", "type": "synonym" } ], "gene_names": [ { "name": "col4a3", "resource": "UniProtKB", "type": "recommended" }, { "name": "col4a3", "resource": "RefSeq", "type": "synonym" } ], "evidence": [ { "id": "0110033", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0110033" } ] }, { "uniprot_canonical_ac": "X1WFR7-1", "uniprot_ac": "X1WFR7", "uniprot_id": "X1WFR7_DANRE", "refseq_ac": "XP_009290110", "glycoprotein": "yes", "species": [ { "name": "Danio rerio", "taxid": 7955, "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "protein_names": [ { "name": "Collagen alpha-4(IV) chain", "resource": "UniProtKB", "type": "synonym" }, { "name": "Collagen, type IV, alpha 4", "resource": "UniProtKB", "type": "synonym" }, { "name": "collagen alpha-4(IV) chain isoform X1", "resource": "RefSeq", "type": "synonym" } ], "gene_names": [ { "name": "col4a4", "resource": "UniProtKB", "type": "recommended" }, { "name": "col4a4", "resource": "RefSeq", "type": "synonym" } ], "evidence": [ { "id": "0110033", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0110033" } ] }, { "uniprot_canonical_ac": "Q5TZ51-1", "uniprot_ac": "Q5TZ51", "uniprot_id": "MPV17_DANRE", "refseq_ac": "NP_957459", "glycoprotein": "no", "species": [ { "name": "Danio rerio", "taxid": 7955, "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "protein_names": [ { "name": "Mitochondrial inner membrane protein Mpv17", "resource": "UniProtKB", "type": "recommended" }, { "name": "Protein Mpv17", "resource": "UniProtKB", "type": "synonym" }, { "name": "mitochondrial inner membrane protein Mpv17", "resource": "RefSeq", "type": "synonym" }, { "name": "protein Mpv17; MpV17 transgene, murine homolog, glomerulosclerosis; transparent; MpV17 mitochondrial inner membrane protein", "resource": "RefSeq", "type": "synonym" } ], "gene_names": [ { "name": "mpv17", "resource": "UniProtKB", "type": "recommended" }, { "name": "mpv17", "resource": "RefSeq", "type": "synonym" }, { "name": "roy; zgc:63573", "resource": "RefSeq", "type": "synonym" }, { "name": "zgc:63573", "resource": "UniProtKB", "type": "synonym" } ], "evidence": [ { "id": "0110033", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0110033" } ] }, { "uniprot_canonical_ac": "F1LRJ1-1", "uniprot_ac": "F1LRJ1", "uniprot_id": "F1LRJ1_RAT", "refseq_ac": "NP_001400917", "glycoprotein": "yes", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "Collagen type IV alpha 3 chain", "resource": "UniProtKB", "type": "synonym" }, { "name": "collagen alpha-3(IV) chain precursor", "resource": "RefSeq", "type": "synonym" }, { "name": "collagen, type IV, alpha 3 (Goodpasture antigen); procollagen, type IV, alpha 3; collagen alpha-3(IV) chain; collagen alpha-3(IV) chain-like", "resource": "RefSeq", "type": "synonym" } ], "gene_names": [ { "name": "Col4a3", "resource": "UniProtKB", "type": "recommended" }, { "name": "Col4a3", "resource": "RefSeq", "type": "synonym" }, { "name": "LOC100911572", "resource": "UniProtKB", "type": "synonym" } ], "evidence": [ { "id": "0110033", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0110033" } ] }, { "uniprot_canonical_ac": "A0A0G2K742-1", "uniprot_ac": "A0A0G2K742", "uniprot_id": "A0A0G2K742_RAT", "refseq_ac": "", "glycoprotein": "yes", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "Collagen type IV alpha 4 chain", "resource": "UniProtKB", "type": "synonym" } ], "gene_names": [ { "name": "Col4a4", "resource": "UniProtKB", "type": "recommended" } ], "evidence": [ { "id": "0110033", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0110033" } ] }, { "uniprot_canonical_ac": "Q5BK62-1", "uniprot_ac": "Q5BK62", "uniprot_id": "MPV17_RAT", "refseq_ac": "NP_001091710", "glycoprotein": "no", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "Mitochondrial inner membrane protein Mpv17", "resource": "UniProtKB", "type": "recommended" }, { "name": "Protein Mpv17", "resource": "UniProtKB", "type": "synonym" }, { "name": "mitochondrial inner membrane protein Mpv17", "resource": "RefSeq", "type": "synonym" }, { "name": "protein Mpv17; Mpv17 transgene, kidney disease mutant-like; MPV17 mitochondrial membrane protein-like; MpV17 mitochondrial inner membrane protein", "resource": "RefSeq", "type": "synonym" } ], "gene_names": [ { "name": "Mpv17", "resource": "UniProtKB", "type": "recommended" }, { "name": "Mpv17l", "resource": "RefSeq", "type": "synonym" }, { "name": "Mpv17l", "resource": "UniProtKB", "type": "synonym" }, { "name": "Mpv17", "resource": "RefSeq", "type": "synonym" } ], "evidence": [ { "id": "0110033", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0110033" } ] }, { "uniprot_canonical_ac": "A0A096MKF9-1", "uniprot_ac": "A0A096MKF9", "uniprot_id": "A0A096MKF9_RAT", "refseq_ac": "", "glycoprotein": "no", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "Complement C2", "resource": "UniProtKB", "type": "recommended" }, { "name": "3.4.21.43", "resource": "UniProtKB", "type": "synonym" }, { "name": "C3/C5 convertase", "resource": "UniProtKB", "type": "synonym" } ], "gene_names": [ { "name": "C2", "resource": "UniProtKB", "type": "recommended" }, { "name": "Cfb", "resource": "UniProtKB", "type": "recommended" }, { "name": "C2", "resource": "UniProtKB", "type": "synonym" }, { "name": "Cfb", "resource": "UniProtKB", "type": "synonym" } ], "evidence": [ { "id": "0110033", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0110033" } ] }, { "uniprot_canonical_ac": "P04640-1", "uniprot_ac": "P04640", "uniprot_id": "OSTCN_RAT", "refseq_ac": "NP_038200", "glycoprotein": "no", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "Osteocalcin", "resource": "UniProtKB", "type": "recommended" }, { "name": "BGP", "resource": "UniProtKB", "type": "synonym" }, { "name": "Bone Gla protein", "resource": "UniProtKB", "type": "synonym" }, { "name": "Gamma-carboxyglutamic acid-containing protein", "resource": "UniProtKB", "type": "synonym" }, { "name": "gamma-carboxyglutamic acid-containing protein; bone Gla-protein; osteocalcin; bone gamma-carboxyglutamate protein 2; bone gamma-carboxyglutamate (gla) protein (osteocalcin); bone gamma-carboxyglutamic acid (Gla) protein (osteocalcin)", "resource": "RefSeq", "type": "synonym" }, { "name": "osteocalcin preproprotein", "resource": "RefSeq", "type": "synonym" } ], "gene_names": [ { "name": "Bglap", "resource": "UniProtKB", "type": "recommended" }, { "name": "Bglap2; Bgp; Bgpr; Bgpra", "resource": "RefSeq", "type": "synonym" }, { "name": "Bglap2", "resource": "UniProtKB", "type": "synonym" }, { "name": "Bglap", "resource": "RefSeq", "type": "synonym" } ], "evidence": [ { "id": "0110033", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0110033" } ] } ], "glycans": [], "biomarkers": [], "association_flag": "1000", "record_id": "doid.0110033" }