{ "disease_id": "DOID:0080108", "recommended_name": { "id": "DOID:0080108", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080108", "name": "myoglobinuria", "description": "A myopathy that is characterized by an increased urinary excretion of myoglobin." }, "synonyms": [ { "id": "MONDO:0008046", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008046", "name": "autosomal dominant myoglobinuria", "description": "Autosomal dominant myoglobinuria is a rare metabolic myopathy characterized by episodic myalgia with myoglobinuria which is induced by fever, viral or bacterial infection, prolonged exercise or alcohol abuse, and could, on occasion, lead to acute renal failure. Between episodes, patients may be asymptomatic or could present elevated creatine kinase levels and mild muscle weakness. There have been no further descriptions in the literature since 1997." }, { "id": "MONDO:0008046", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008046", "name": "myoglobinuria, autosomal dominant", "description": "" }, { "id": "MONDO:0009992", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009992", "name": "myoglobinuria, acute recurrent, autosomal recessive", "description": "" }, { "id": "MONDO:0009992", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009992", "name": "myoglobinuria, acute recurrent, autosomal recessive", "description": "" }, { "id": "MONDO:0010791", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010791", "name": "myoglobinuria, recurrent", "description": "An inborn error of metabolism characterized by abnormal urinary excretion of myoglobin due to acute destruction of skeletal muscle fibers. The exact prevalence remains unknown. In the majority of cases, the disease manifests in childhood and is often triggered by exertion or infection (febrile illness). Hypertonia, muscle stiffness and muscle pain, impaired kidney function and elevated levels of serum creatine kinase are common clinical features. Mutations in the mitochondrial DNA-encoded cytochrome C oxidase genes (MT-CO1 and MT-CO2) should be considered in patients with recurrent myoglobinuria. Recently, mutations in the LPIN1 gene (chromosome 2p21) have been reported to have a causative role in three patients with recurrent episodes of myoglobinuria, originating from consanguineous families. The disorder may occur sporadically, or be inherited in either a recessive or dominant manner." }, { "id": "MONDO:0010791", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010791", "name": "myoglobinuria, recurrent", "description": "" }, { "id": "MONDO:0010791", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010791", "name": "myoglobinuria recurrent", "description": "" }, { "id": "MIM:268200", "resource": "MIM", "url": "https://www.omim.org/entry/268200", "name": "Myoglobinuria, acute recurrent, autosomal recessive", "description": "Myoglobinuria, acute recurrent, autosomal recessive" }, { "id": "MIM:550500", "resource": "MIM", "url": "https://www.omim.org/entry/550500", "name": "Recurrent myoglobinuria mitochondrial", "description": "Recurrent myoglobinuria mitochondrial" } ], "children": [], "id_list": [ "DOID:0080108" ], "unlinked_id_list": [], "crossref": [ { "id": "DOID:0080108", "database": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080108", "categories": [] }, { "id": "MONDO:0008046", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008046", "categories": [] }, { "id": "MONDO:0009992", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009992", "categories": [] }, { "id": "MONDO:0010791", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010791", "categories": [] }, { "id": "MIM:268200", "database": "MIM", "url": "https://www.omim.org/entry/268200", "categories": [] }, { "id": "MIM:550500", "database": "MIM", "url": "https://www.omim.org/entry/550500", "categories": [] } ], "proteins": [ { "uniprot_canonical_ac": "A0A8M2BAN1-1", "uniprot_ac": "A0A8M2BAN1", "uniprot_id": "A0A8M2BAN1_DANRE", "refseq_ac": "XP_005163511", "glycoprotein": "yes", "species": [ { "name": "Danio rerio", "taxid": 7955, "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "protein_names": [ { "name": "phosphatidate phosphatase", "type": "recommended" }, { "name": "3.1.3.4", "type": "synonym" }, { "name": "phosphatidate phosphatase LPIN2 isoform X1", "type": "synonym" } ], "gene_names": [ { "name": "lpin2", "type": "recommended" }, { "name": "lpin2", "type": "synonym" } ], "record_id": "A0A8M2BAN1-1", "evidence": [ { "id": "0080108", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080108" } ] }, { "uniprot_canonical_ac": "A0A8M9P333-1", "uniprot_ac": "A0A8M9P333", "uniprot_id": "A0A8M9P333_DANRE", "refseq_ac": "XP_021324377", "glycoprotein": "no", "species": [ { "name": "Danio rerio", "taxid": 7955, "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "protein_names": [ { "name": "phosphatidate phosphatase", "type": "recommended" }, { "name": "3.1.3.4", "type": "synonym" }, { "name": "phosphatidate phosphatase LPIN1 isoform X1", "type": "synonym" } ], "gene_names": [ { "name": "lpin1b", "type": "recommended" }, { "name": "lpin1b", "type": "synonym" } ], "record_id": "A0A8M9P333-1", "evidence": [ { "id": "0080108", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080108" } ] }, { "uniprot_canonical_ac": "A0AB32TSJ5-1", "uniprot_ac": "A0AB32TSJ5", "uniprot_id": "A0AB32TSJ5_DANRE", "refseq_ac": "XP_068077886", "glycoprotein": "yes", "species": [ { "name": "Danio rerio", "taxid": 7955, "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "protein_names": [ { "name": "phosphatidate phosphatase", "type": "recommended" }, { "name": "3.1.3.4", "type": "synonym" }, { "name": "zgc:123305 isoform X1", "type": "synonym" } ], "gene_names": [ { "name": "zgc:123305", "type": "synonym" } ], "record_id": "A0AB32TSJ5-1", "evidence": [ { "id": "0080108", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080108" } ] }, { "uniprot_canonical_ac": "A0A8M2BHF6-1", "uniprot_ac": "A0A8M2BHF6", "uniprot_id": "A0A8M2BHF6_DANRE", "refseq_ac": "XP_005169649", "glycoprotein": "no", "species": [ { "name": "Danio rerio", "taxid": 7955, "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "protein_names": [ { "name": "Glutathione reductase", "type": "recommended" }, { "name": "1.8.1.7", "type": "synonym" }, { "name": "glutathione reductase, mitochondrial isoform X1", "type": "synonym" } ], "gene_names": [ { "name": "gsr", "type": "recommended" }, { "name": "gsr", "type": "synonym" }, { "name": "zgc:110010", "type": "synonym" } ], "record_id": "A0A8M2BHF6-1", "evidence": [ { "id": "0080108", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080108" } ] }, { "uniprot_canonical_ac": "O70250-1", "uniprot_ac": "O70250", "uniprot_id": "PGAM2_MOUSE", "refseq_ac": "NP_061358", "glycoprotein": "yes", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Phosphoglycerate mutase 2", "type": "recommended" }, { "name": "5.4.2.11", "type": "synonym" }, { "name": "5.4.2.4", "type": "synonym" }, { "name": "BPG-dependent PGAM 2", "type": "synonym" }, { "name": "Muscle-specific phosphoglycerate mutase", "type": "synonym" }, { "name": "PGAM-M", "type": "synonym" }, { "name": "Phosphoglycerate mutase isozyme M", "type": "synonym" }, { "name": "muscle-specific phosphoglycerate mutase", "type": "synonym" }, { "name": "phosphoglycerate mutase 2", "type": "synonym" }, { "name": "phosphoglycerate mutase isozyme M", "type": "synonym" }, { "name": "phosphoglycerate mutase muscle-specific subunit", "type": "synonym" } ], "gene_names": [ { "name": "Pgam2", "type": "recommended" }, { "name": "Pgam2", "type": "synonym" } ], "record_id": "O70250-1", "evidence": [ { "id": "0080108", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080108" } ] }, { "uniprot_canonical_ac": "Q99PI5-1", "uniprot_ac": "Q99PI5", "uniprot_id": "LPIN2_MOUSE", "refseq_ac": "NP_075020", "glycoprotein": "yes", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Phosphatidate phosphatase LPIN2", "type": "recommended" }, { "name": "3.1.3.4", "type": "synonym" }, { "name": "Lipin-2", "type": "synonym" }, { "name": "phosphatidate phosphatase LPIN2 isoform 2", "type": "synonym" }, { "name": "phosphatidate phosphatase LPIN2", "type": "synonym" } ], "gene_names": [ { "name": "Lpin2", "type": "recommended" }, { "name": "2610511G02Rik", "type": "synonym" }, { "name": "Lpin2", "type": "synonym" } ], "record_id": "Q99PI5-1", "evidence": [ { "id": "0080108", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080108" } ] }, { "uniprot_canonical_ac": "Q91ZP3-1", "uniprot_ac": "Q91ZP3", "uniprot_id": "LPIN1_MOUSE", "refseq_ac": "NP_001123884", "glycoprotein": "yes", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Phosphatidate phosphatase LPIN1", "type": "recommended" }, { "name": "3.1.3.4", "type": "synonym" }, { "name": "Fatty liver dystrophy protein", "type": "synonym" }, { "name": "Lipin-1", "type": "synonym" }, { "name": "fatty liver dystrophy protein", "type": "synonym" }, { "name": "phosphatidate phosphatase LPIN1 isoform a", "type": "synonym" }, { "name": "phosphatidate phosphatase LPIN1", "type": "synonym" } ], "gene_names": [ { "name": "Lpin1", "type": "recommended" }, { "name": "Flde", "type": "synonym" }, { "name": "Lipin1", "type": "synonym" }, { "name": "Lpin1", "type": "synonym" }, { "name": "fld", "type": "synonym" } ], "record_id": "Q91ZP3-1", "evidence": [ { "id": "0080108", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080108" } ] }, { "uniprot_canonical_ac": "Q99PI4-1", "uniprot_ac": "Q99PI4", "uniprot_id": "LPIN3_MOUSE", "refseq_ac": "NP_001186047", "glycoprotein": "yes", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Phosphatidate phosphatase LPIN3", "type": "recommended" }, { "name": "3.1.3.4", "type": "synonym" }, { "name": "Lipin-3", "type": "synonym" }, { "name": "phosphatidate phosphatase LPIN3", "type": "synonym" } ], "gene_names": [ { "name": "Lpin3", "type": "recommended" }, { "name": "9130206L11Rik", "type": "synonym" }, { "name": "Lpin3", "type": "synonym" }, { "name": "mKIAA4023", "type": "synonym" } ], "record_id": "Q99PI4-1", "evidence": [ { "id": "0080108", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080108" } ] }, { "uniprot_canonical_ac": "P47791-1", "uniprot_ac": "P47791", "uniprot_id": "GSHR_MOUSE", "refseq_ac": "NP_034474", "glycoprotein": "yes", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Glutathione reductase, mitochondrial", "type": "recommended" }, { "name": "1.8.1.7", "type": "synonym" }, { "name": "GRase", "type": "synonym" }, { "name": "GR", "type": "synonym" }, { "name": "glutathione reductase 1", "type": "synonym" }, { "name": "glutathione reductase, mitochondrial precursor", "type": "synonym" }, { "name": "glutathione reductase, mitochondrial", "type": "synonym" } ], "gene_names": [ { "name": "Gsr", "type": "recommended" }, { "name": "D8Ertd238e", "type": "synonym" }, { "name": "Gr-1", "type": "synonym" }, { "name": "Gr1", "type": "synonym" }, { "name": "Gsr", "type": "synonym" } ], "record_id": "P47791-1", "evidence": [ { "id": "0080108", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080108" } ] }, { "uniprot_canonical_ac": "P00395-1", "uniprot_ac": "P00395", "uniprot_id": "COX1_HUMAN", "refseq_ac": "YP_003024028", "glycoprotein": "yes", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "Cytochrome c oxidase subunit 1", "type": "recommended" }, { "name": "7.1.1.9", "type": "synonym" }, { "name": "Cytochrome c oxidase polypeptide I", "type": "synonym" }, { "name": "cytochrome c oxidase subunit I", "type": "synonym" } ], "gene_names": [ { "name": "MT-CO1", "type": "recommended" }, { "name": "COI", "type": "synonym" }, { "name": "COX1", "type": "synonym" }, { "name": "COXI", "type": "synonym" }, { "name": "MTCO1", "type": "synonym" } ], "record_id": "P00395-1", "evidence": [ { "id": "550500", "database": "MIM", "url": "https://www.omim.org/entry/550500" } ] }, { "uniprot_canonical_ac": "P00414-1", "uniprot_ac": "P00414", "uniprot_id": "COX3_HUMAN", "refseq_ac": "YP_003024032", "glycoprotein": "yes", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "Cytochrome c oxidase subunit 3", "type": "recommended" }, { "name": "7.1.1.9", "type": "synonym" }, { "name": "Cytochrome c oxidase polypeptide III", "type": "synonym" }, { "name": "cytochrome c oxidase subunit III", "type": "synonym" } ], "gene_names": [ { "name": "MT-CO3", "type": "recommended" }, { "name": "COIII", "type": "synonym" }, { "name": "COX3", "type": "synonym" }, { "name": "COXIII", "type": "synonym" }, { "name": "MTCO3", "type": "synonym" } ], "record_id": "P00414-1", "evidence": [ { "id": "550500", "database": "MIM", "url": "https://www.omim.org/entry/550500" } ] }, { "uniprot_canonical_ac": "Q14693-1", "uniprot_ac": "Q14693", "uniprot_id": "LPIN1_HUMAN", "refseq_ac": "NP_001248356", "glycoprotein": "yes", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "Phosphatidate phosphatase LPIN1", "type": "recommended" }, { "name": "3.1.3.4", "type": "synonym" }, { "name": "Lipin-1", "type": "synonym" }, { "name": "phosphatidate phosphatase LPIN1 isoform 2", "type": "synonym" }, { "name": "phosphatidate phosphatase LPIN1", "type": "synonym" } ], "gene_names": [ { "name": "LPIN1", "type": "recommended" }, { "name": "KIAA0188", "type": "synonym" }, { "name": "LPIN1", "type": "synonym" }, { "name": "PAP1", "type": "synonym" } ], "record_id": "Q14693-1", "evidence": [ { "id": "268200", "database": "MIM", "url": "https://www.omim.org/entry/268200" }, { "id": "0080108", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080108" } ] }, { "uniprot_canonical_ac": "P32567-1", "uniprot_ac": "P32567", "uniprot_id": "PAH1_YEAST", "refseq_ac": "NP_013888", "glycoprotein": "yes", "species": [ { "name": "Saccharomyces cerevisiae S288C", "taxid": 559292, "common_name": "Baker's yeast", "glygen_name": "Yeast", "reference_species": "Saccharomyces cerevisiae S288C [559292]" } ], "protein_names": [ { "name": "Phosphatidic acid phosphohydrolase 1", "type": "recommended" }, { "name": "3.1.3.4", "type": "synonym" }, { "name": "PAP1", "type": "synonym" }, { "name": "Protein SMP2", "type": "synonym" }, { "name": "phosphatidate phosphatase PAH1", "type": "synonym" } ], "gene_names": [ { "name": "PAH1", "type": "recommended" }, { "name": "PAH1", "type": "synonym" }, { "name": "PAP1", "type": "synonym" }, { "name": "SMP2", "type": "synonym" }, { "name": "YM8520.14C", "type": "synonym" } ], "record_id": "P32567-1", "evidence": [ { "id": "0080108", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080108" } ] }, { "uniprot_canonical_ac": "P00950-1", "uniprot_ac": "P00950", "uniprot_id": "PMG1_YEAST", "refseq_ac": "NP_012770", "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": "Phosphoglycerate mutase 1", "type": "recommended" }, { "name": "5.4.2.11", "type": "synonym" }, { "name": "BPG-dependent PGAM 1", "type": "synonym" }, { "name": "MPGM 1", "type": "synonym" }, { "name": "PGAM 1", "type": "synonym" }, { "name": "Phosphoglyceromutase 1", "type": "synonym" }, { "name": "phosphoglycerate mutase GPM1", "type": "synonym" } ], "gene_names": [ { "name": "GPM1", "type": "recommended" }, { "name": "GPM1", "type": "synonym" }, { "name": "GPM", "type": "synonym" }, { "name": "YKL607", "type": "synonym" } ], "record_id": "P00950-1", "evidence": [ { "id": "0080108", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080108" } ] }, { "uniprot_canonical_ac": "Q12008-1", "uniprot_ac": "Q12008", "uniprot_id": "PMG2_YEAST", "refseq_ac": "NP_010263", "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": "Phosphoglycerate mutase 2", "type": "recommended" }, { "name": "5.4.2.11", "type": "synonym" }, { "name": "BPG-dependent PGAM 2", "type": "synonym" }, { "name": "MPGM 2", "type": "synonym" }, { "name": "PGAM 2", "type": "synonym" }, { "name": "Phosphoglyceromutase 2", "type": "synonym" }, { "name": "phosphoglycerate mutase family protein GPM2", "type": "synonym" } ], "gene_names": [ { "name": "GPM2", "type": "recommended" }, { "name": "D2835", "type": "synonym" }, { "name": "GPM2", "type": "synonym" } ], "record_id": "Q12008-1", "evidence": [ { "id": "0080108", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080108" } ] }, { "uniprot_canonical_ac": "P41921-1", "uniprot_ac": "P41921", "uniprot_id": "GSHR_YEAST", "refseq_ac": "NP_015234", "glycoprotein": "yes", "species": [ { "name": "Saccharomyces cerevisiae S288C", "taxid": 559292, "common_name": "Baker's yeast", "glygen_name": "Yeast", "reference_species": "Saccharomyces cerevisiae S288C [559292]" } ], "protein_names": [ { "name": "Glutathione reductase", "type": "recommended" }, { "name": "1.8.1.7", "type": "synonym" }, { "name": "GRase", "type": "synonym" }, { "name": "GR", "type": "synonym" }, { "name": "glutathione-disulfide reductase GLR1", "type": "synonym" } ], "gene_names": [ { "name": "GLR1", "type": "recommended" }, { "name": "GLR1", "type": "synonym" }, { "name": "LPG17W", "type": "synonym" }, { "name": "LPG17", "type": "synonym" } ], "record_id": "P41921-1", "evidence": [ { "id": "0080108", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080108" } ] }, { "uniprot_canonical_ac": "P70619-1", "uniprot_ac": "P70619", "uniprot_id": "GSHR_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": "Glutathione reductase", "type": "recommended" }, { "name": "1.8.1.7", "type": "synonym" }, { "name": "GRase", "type": "synonym" }, { "name": "GR", "type": "synonym" } ], "gene_names": [ { "name": "Gsr", "type": "recommended" } ], "record_id": "P70619-1", "evidence": [ { "id": "0080108", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080108" } ] }, { "uniprot_canonical_ac": "P16290-1", "uniprot_ac": "P16290", "uniprot_id": "PGAM2_RAT", "refseq_ac": "NP_059024", "glycoprotein": "yes", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "Phosphoglycerate mutase 2", "type": "recommended" }, { "name": "5.4.2.11", "type": "synonym" }, { "name": "5.4.2.4", "type": "synonym" }, { "name": "BPG-dependent PGAM 2", "type": "synonym" }, { "name": "Muscle-specific phosphoglycerate mutase", "type": "synonym" }, { "name": "PGAM-M", "type": "synonym" }, { "name": "Phosphoglycerate mutase isozyme M", "type": "synonym" }, { "name": "isozyme MM", "type": "synonym" }, { "name": "muscle-specific phosphoglycerate mutase", "type": "synonym" }, { "name": "phosphoglycerate mutase 2 (muscle)", "type": "synonym" }, { "name": "phosphoglycerate mutase 2", "type": "synonym" }, { "name": "phosphoglycerate mutase isozyme M", "type": "synonym" }, { "name": "type MM phosphoglycerate mutase", "type": "synonym" } ], "gene_names": [ { "name": "Pgam2", "type": "recommended" }, { "name": "D14Mgh1", "type": "synonym" }, { "name": "PGAM-M", "type": "synonym" }, { "name": "Pgam2", "type": "synonym" }, { "name": "Pgmut", "type": "synonym" } ], "record_id": "P16290-1", "evidence": [ { "id": "0080108", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080108" } ] }, { "uniprot_canonical_ac": "D3ZYB4-1", "uniprot_ac": "D3ZYB4", "uniprot_id": "D3ZYB4_RAT", "refseq_ac": "NP_001101706", "glycoprotein": "no", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "phosphatidate phosphatase", "type": "recommended" }, { "name": "3.1.3.4", "type": "synonym" }, { "name": "phosphatidate phosphatase LPIN2", "type": "synonym" } ], "gene_names": [ { "name": "Lpin2", "type": "recommended" }, { "name": "Lpin2", "type": "synonym" } ], "record_id": "D3ZYB4-1", "evidence": [ { "id": "0080108", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080108" } ] }, { "uniprot_canonical_ac": "A0A8J8YGA4-1", "uniprot_ac": "A0A8J8YGA4", "uniprot_id": "A0A8J8YGA4_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": "phosphatidate phosphatase", "type": "recommended" }, { "name": "3.1.3.4", "type": "synonym" } ], "gene_names": [ { "name": "Lpin3", "type": "recommended" } ], "record_id": "A0A8J8YGA4-1", "evidence": [ { "id": "0080108", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080108" } ] }, { "uniprot_canonical_ac": "F7FDH2-1", "uniprot_ac": "F7FDH2", "uniprot_id": "F7FDH2_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": "phosphatidate phosphatase", "type": "recommended" }, { "name": "3.1.3.4", "type": "synonym" } ], "gene_names": [ { "name": "Lpin1", "type": "recommended" } ], "record_id": "F7FDH2-1", "evidence": [ { "id": "0080108", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080108" } ] }, { "uniprot_canonical_ac": "Q9VGB6-1", "uniprot_ac": "Q9VGB6", "uniprot_id": "Q9VGB6_DROME", "refseq_ac": "NP_652041", "glycoprotein": "no", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "Phosphoglycerate mutase", "type": "recommended" }, { "name": "5.4.2.11", "type": "synonym" }, { "name": "5.4.2.4", "type": "synonym" }, { "name": "CG17645-PA", "type": "synonym" }, { "name": "Pglym87-PA", "type": "synonym" }, { "name": "phosphoglyceromutase 87", "type": "synonym" } ], "gene_names": [ { "name": "Pgam2", "type": "recommended" }, { "name": "CG17645", "type": "synonym" }, { "name": "Dmel\\CG17645", "type": "synonym" }, { "name": "Dmel_CG17645", "type": "synonym" }, { "name": "Pglym87", "type": "synonym" }, { "name": "Pglym", "type": "synonym" }, { "name": "pglym87", "type": "synonym" } ], "record_id": "Q9VGB6-1", "evidence": [ { "id": "0080108", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080108" } ] }, { "uniprot_canonical_ac": "Q9VAN7-1", "uniprot_ac": "Q9VAN7", "uniprot_id": "Q9VAN7_DROME", "refseq_ac": "NP_001034075", "glycoprotein": "no", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "Phosphoglycerate mutase", "type": "recommended" }, { "name": "5.4.2.11", "type": "synonym" }, { "name": "5.4.2.4", "type": "synonym" }, { "name": "CG1721-PC", "type": "synonym" }, { "name": "Pglym78-PC", "type": "synonym" }, { "name": "phosphoglycerate mutase", "type": "synonym" }, { "name": "phosphoglycerol mutase", "type": "synonym" }, { "name": "phosphoglyceromutase 78, isoform C", "type": "synonym" }, { "name": "phosphoglyceromutase", "type": "synonym" }, { "name": "phosphogylcerate mutase 78", "type": "synonym" } ], "gene_names": [ { "name": "Pgam1", "type": "recommended" }, { "name": "CG1721", "type": "synonym" }, { "name": "Dmel\\CG1721", "type": "synonym" }, { "name": "Dmel_CG1721", "type": "synonym" }, { "name": "PGAM", "type": "synonym" }, { "name": "PGLYM", "type": "synonym" }, { "name": "Pglym78", "type": "synonym" }, { "name": "Pglym", "type": "synonym" }, { "name": "pglym78", "type": "synonym" } ], "record_id": "Q9VAN7-1", "evidence": [ { "id": "0080108", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080108" } ] }, { "uniprot_canonical_ac": "Q12926-1", "uniprot_ac": "Q12926", "uniprot_id": "ELAV2_HUMAN", "refseq_ac": "NP_001164666", "glycoprotein": "yes", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "ELAV-like protein 2", "type": "recommended" }, { "name": "ELAV (embryonic lethal, abnormal vision, Drosophila)-like 2 (Hu antigen B)", "type": "synonym" }, { "name": "ELAV like neuron-specific RNA binding protein 2", "type": "synonym" }, { "name": "ELAV-like neuronal protein 1", "type": "synonym" }, { "name": "ELAV-like protein 2 isoform b", "type": "synonym" }, { "name": "ELAV-like protein 2", "type": "synonym" }, { "name": "Hu-antigen B", "type": "synonym" }, { "name": "HuB", "type": "synonym" }, { "name": "Nervous system-specific RNA-binding protein Hel-N1", "type": "synonym" }, { "name": "hu-antigen B", "type": "synonym" }, { "name": "nervous system-specific RNA-binding protein Hel-N1", "type": "synonym" } ], "gene_names": [ { "name": "ELAVL2", "type": "recommended" }, { "name": "ELAVL2", "type": "synonym" }, { "name": "HEL-N1", "type": "synonym" }, { "name": "HELN1", "type": "synonym" }, { "name": "HUB", "type": "synonym" } ], "record_id": "Q12926-1", "evidence": [ { "id": "0080108", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080108" } ] }, { "uniprot_canonical_ac": "Q92539-1", "uniprot_ac": "Q92539", "uniprot_id": "LPIN2_HUMAN", "refseq_ac": "NP_055461", "glycoprotein": "no", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "Phosphatidate phosphatase LPIN2", "type": "recommended" }, { "name": "3.1.3.4", "type": "synonym" }, { "name": "Lipin-2", "type": "synonym" }, { "name": "phosphatidate phosphatase LPIN2", "type": "synonym" } ], "gene_names": [ { "name": "LPIN2", "type": "recommended" }, { "name": "CRMO1", "type": "synonym" }, { "name": "KIAA0249", "type": "synonym" }, { "name": "LPIN2", "type": "synonym" }, { "name": "MJDS", "type": "synonym" } ], "record_id": "Q92539-1", "evidence": [ { "id": "0080108", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080108" } ] }, { "uniprot_canonical_ac": "Q9BQK8-1", "uniprot_ac": "Q9BQK8", "uniprot_id": "LPIN3_HUMAN", "refseq_ac": "NP_001288789", "glycoprotein": "yes", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "Phosphatidate phosphatase LPIN3", "type": "recommended" }, { "name": "3.1.3.4", "type": "synonym" }, { "name": "Lipin-3-like", "type": "synonym" }, { "name": "Lipin-3", "type": "synonym" }, { "name": "phosphatidate phosphatase LPIN3 isoform 1", "type": "synonym" }, { "name": "phosphatidate phosphatase LPIN3", "type": "synonym" } ], "gene_names": [ { "name": "LPIN3", "type": "recommended" }, { "name": "LIPN3L", "type": "synonym" }, { "name": "LPIN3", "type": "synonym" }, { "name": "SMP2", "type": "synonym" }, { "name": "dJ620E11.2", "type": "synonym" } ], "record_id": "Q9BQK8-1", "evidence": [ { "id": "0080108", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080108" } ] }, { "uniprot_canonical_ac": "P00390-1", "uniprot_ac": "P00390", "uniprot_id": "GSHR_HUMAN", "refseq_ac": "NP_000628", "glycoprotein": "yes", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "Glutathione reductase, mitochondrial", "type": "recommended" }, { "name": "1.8.1.7", "type": "synonym" }, { "name": "GRase", "type": "synonym" }, { "name": "GR", "type": "synonym" }, { "name": "epididymis luminal protein 75", "type": "synonym" }, { "name": "epididymis secretory sperm binding protein Li 122m", "type": "synonym" }, { "name": "glutathione S-reductase", "type": "synonym" }, { "name": "glutathione reductase, mitochondrial isoform 1 precursor", "type": "synonym" }, { "name": "glutathione reductase, mitochondrial", "type": "synonym" } ], "gene_names": [ { "name": "GSR", "type": "recommended" }, { "name": "CNSHA10", "type": "synonym" }, { "name": "GLUR", "type": "synonym" }, { "name": "GRD1", "type": "synonym" }, { "name": "GR", "type": "synonym" }, { "name": "GSRD", "type": "synonym" }, { "name": "GSR", "type": "synonym" }, { "name": "HEL-75", "type": "synonym" }, { "name": "HEL-S-122m", "type": "synonym" } ], "record_id": "P00390-1", "evidence": [ { "id": "0080108", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080108" } ] }, { "uniprot_canonical_ac": "P15259-1", "uniprot_ac": "P15259", "uniprot_id": "PGAM2_HUMAN", "refseq_ac": "NP_000281", "glycoprotein": "no", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "Phosphoglycerate mutase 2", "type": "recommended" }, { "name": "5.4.2.11", "type": "synonym" }, { "name": "5.4.2.4", "type": "synonym" }, { "name": "BPG-dependent PGAM 2", "type": "synonym" }, { "name": "Muscle-specific phosphoglycerate mutase", "type": "synonym" }, { "name": "PGAM-M", "type": "synonym" }, { "name": "Phosphoglycerate mutase isozyme M", "type": "synonym" }, { "name": "muscle-specific phosphoglycerate mutase", "type": "synonym" }, { "name": "phosphoglycerate mutase 2 (muscle)", "type": "synonym" }, { "name": "phosphoglycerate mutase 2", "type": "synonym" }, { "name": "phosphoglycerate mutase isozyme M", "type": "synonym" } ], "gene_names": [ { "name": "PGAM2", "type": "recommended" }, { "name": "GSD10", "type": "synonym" }, { "name": "PGAM-M", "type": "synonym" }, { "name": "PGAM2", "type": "synonym" }, { "name": "PGAMM", "type": "synonym" } ], "record_id": "P15259-1", "evidence": [ { "id": "0080108", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080108" } ] } ], "glycans": [], "biomarkers": [], "association_flag": "1000", "record_id": "doid.0080108" }