{ "disease_id": "DOID:0050629", "recommended_name": { "id": "DOID:0050629", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050629", "name": "Aicardi-Goutieres syndrome", "description": "A syndrome that is a genetically heterogeneous encephalopathy characterized in its most severe form by cerebral atrophy, leukodystrophy, intracranial calcifications, chronic cerebrospinal fluid lymphocytosis, increased CSF alpha-interferon, and negative serologic investigations for common prenatal infections." }, "synonyms": [ { "id": "DOID:0050629", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050629", "name": "Cree encephalitis", "description": "" }, { "id": "DOID:0050629", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050629", "name": "AGS", "description": "" }, { "id": "MONDO:0009165", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009165", "name": "Aicardi-Goutieres 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"" }, { "id": "MONDO:0012429", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012429", "name": "RNASEH2B Aicardi-Goutieres syndrome", "description": "" }, { "id": "MONDO:0012429", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012429", "name": "AGS2", "description": "" }, { "id": "MONDO:0012429", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012429", "name": "RNASEH2B-related Aicardi-Goutieres syndrome", "description": "" }, { "id": "MONDO:0012471", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012471", "name": "Aicardi-Goutieres syndrome 3", "description": "Any Aicardi-Goutieres syndrome in which the cause of the disease is a mutation in the RNASEH2C gene." }, { "id": "MONDO:0012471", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012471", "name": "Aicardi-Goutieres syndrome 3", "description": "" }, { "id": "MONDO:0012471", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012471", "name": "Aicardi-Goutieres syndrome caused by mutation in RNASEH2C", "description": "" }, { "id": "MONDO:0012471", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012471", "name": "Aicardi-Goutieres syndrome type 3", "description": "" }, { "id": "MONDO:0012471", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012471", "name": "RNASEH2C Aicardi-Goutieres syndrome", "description": "" }, { "id": "MONDO:0012471", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012471", "name": "AGS3", "description": "" }, { "id": "MONDO:0012471", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012471", "name": "RNASEH2C -related Aicardi-Goutieres syndrome", "description": "" }, { "id": "MONDO:0012472", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012472", "name": "Aicardi-Goutieres syndrome 4", "description": "Any 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"MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012472", "name": "RNASEH2A-related Aicardi-Goutieres syndrome", "description": "" }, { "id": "MONDO:0013059", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013059", "name": "Aicardi-Goutieres syndrome 5", "description": "Any Aicardi-Goutieres syndrome in which the cause of the disease is a mutation in the SAMHD1 gene." }, { "id": "MONDO:0013059", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013059", "name": "Aicardi-Goutieres syndrome 5", "description": "" }, { "id": "MONDO:0013059", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013059", "name": "Aicardi-Goutieres syndrome caused by mutation in SAMHD1", "description": "" }, { "id": "MONDO:0013059", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013059", "name": "Aicardi-Goutieres syndrome type 5", "description": "" }, { "id": "MONDO:0013059", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013059", "name": "SAMHD1 Aicardi-Goutieres syndrome", "description": "" }, { "id": "MONDO:0013059", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013059", "name": "AGS5", "description": "" }, { "id": "MONDO:0013059", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013059", "name": "SAMHD1-related Aicardi-Goutieres syndrome", "description": "" }, { "id": "MONDO:0014007", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014007", "name": "Aicardi-Goutieres syndrome 6", "description": "Any Aicardi-Goutieres syndrome in which the cause of the disease is a mutation in the ADAR gene." }, { "id": "MONDO:0014007", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014007", "name": "ADAR Aicardi-Goutieres syndrome", "description": "" }, { "id": "MONDO:0014007", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014007", "name": "Adar Aicardi-Goutieres syndrome", "description": "" }, { "id": "MONDO:0014007", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014007", "name": "Aicardi-Goutieres syndrome 6", "description": "" }, { "id": "MONDO:0014007", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014007", "name": "Aicardi-Goutieres syndrome caused by mutation in ADAR", "description": "" }, { "id": "MONDO:0014007", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014007", "name": "Aicardi-Goutieres syndrome caused by mutation in Adar", "description": "" }, { "id": "MONDO:0014007", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014007", "name": "Aicardi-Goutieres syndrome type 6", "description": "" }, { "id": "MONDO:0014007", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014007", "name": "AGS6", "description": "" }, { "id": "MONDO:0014367", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014367", "name": "Aicardi-Goutieres syndrome 7", "description": "Any Aicardi-Goutieres syndrome in which the cause of the disease is a mutation in the IFIH1 gene." }, { "id": "MONDO:0014367", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014367", "name": "Aicardi-Goutieres syndrome 7", "description": "" }, { "id": "MONDO:0014367", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014367", "name": "Aicardi-Goutieres syndrome caused by mutation in IFIH1", "description": "" }, { "id": "MONDO:0014367", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014367", "name": "Aicardi-Goutieres syndrome type 7", "description": "" }, { "id": "MONDO:0014367", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014367", "name": "IFIH1 Aicardi-Goutieres syndrome", "description": "" }, { "id": "MONDO:0014367", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014367", "name": "AGS7", "description": "" }, { "id": "MIM:225750", "resource": "MIM", "url": "https://www.omim.org/entry/225750", "name": "Aicardi-Goutieres syndrome 1", "description": "Aicardi-Goutieres syndrome 1" }, { "id": "MIM:610181", "resource": "MIM", "url": "https://www.omim.org/entry/610181", "name": "Aicardi-Goutieres syndrome 2", "description": "Aicardi-Goutieres syndrome 2" }, { "id": "MIM:610329", "resource": "MIM", "url": "https://www.omim.org/entry/610329", "name": "Aicardi-Goutieres syndrome 3", "description": "Aicardi-Goutieres syndrome 3" }, { "id": "MIM:610333", "resource": "MIM", "url": "https://www.omim.org/entry/610333", "name": "Aicardi-Goutieres syndrome 4", "description": "Aicardi-Goutieres syndrome 4" }, { "id": "MIM:612952", "resource": "MIM", "url": "https://www.omim.org/entry/612952", "name": "Aicardi-Goutieres syndrome 5", "description": "Aicardi-Goutieres syndrome 5" }, { "id": "MIM:615010", "resource": "MIM", "url": "https://www.omim.org/entry/615010", "name": "Aicardi-Goutieres syndrome 6", "description": "Aicardi-Goutieres syndrome 6" }, { "id": "MIM:615846", "resource": "MIM", "url": "https://www.omim.org/entry/615846", "name": "Aicardi-Goutieres syndrome 7", "description": "Aicardi-Goutieres syndrome 7" } ], "children": [], "id_list": [ "DOID:0050629" ], "unlinked_id_list": [], "crossref": [ { "id": "DOID:0050629", "database": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050629", "categories": [] }, { "id": "MONDO:0009165", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009165", "categories": [] }, { "id": "MONDO:0012429", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012429", "categories": [] }, { "id": "MONDO:0012471", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012471", "categories": [] }, { "id": "MONDO:0012472", "database": "MONDO", "url": 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"MIM:615010", "database": "MIM", "url": "https://www.omim.org/entry/615010", "categories": [] }, { "id": "MIM:615846", "database": "MIM", "url": "https://www.omim.org/entry/615846", "categories": [] } ], "proteins": [ { "uniprot_canonical_ac": "Q502K2-1", "uniprot_ac": "Q502K2", "uniprot_id": "SAMH1_DANRE", "refseq_ac": "", "glycoprotein": "no", "species": [ { "name": "Danio rerio", "taxid": 7955, "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "protein_names": [ { "name": "Deoxynucleoside triphosphate triphosphohydrolase SAMHD1", "type": "recommended" }, { "name": "3.1.5.-", "type": "synonym" }, { "name": "dNTPase", "type": "synonym" } ], "gene_names": [ { "name": "samhd1", "type": "recommended" }, { "name": "si:dkeyp-44b8.8", "type": "synonym" } ], "record_id": "Q502K2-1", "evidence": [ { "id": "0050629", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050629" } ] }, { "uniprot_canonical_ac": 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"name": "rnaseh2c", "type": "recommended" }, { "name": "fc08g11", "type": "synonym" }, { "name": "im:5617510", "type": "synonym" }, { "name": "rnaseh2c", "type": "synonym" }, { "name": "si:dkey-147f20.5", "type": "synonym" }, { "name": "wu:fc08g11", "type": "synonym" } ], "record_id": "E9QD20-1", "evidence": [ { "id": "0050629", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050629" } ] }, { "uniprot_canonical_ac": "Q91XB0-1", "uniprot_ac": "Q91XB0", "uniprot_id": "TREX1_MOUSE", "refseq_ac": "NP_001012236", "glycoprotein": "no", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Three-prime repair exonuclease 1", "type": "recommended" }, { "name": "3'-5' exonuclease TREX1", "type": "synonym" }, { "name": "3.1.11.2", "type": "synonym" }, { "name": "DNase III", "type": "synonym" }, { "name": "three prime exonuclease 1", "type": "synonym" }, { "name": "three-prime repair exonuclease 1", "type": "synonym" }, { "name": "trophoblast expressed 1", "type": "synonym" } ], "gene_names": [ { "name": "Trex1", "type": "recommended" }, { "name": "Trex1", "type": "synonym" } ], "record_id": "Q91XB0-1", "evidence": [ { "id": "0050629", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050629" } ] }, { "uniprot_canonical_ac": "Q99MU3-1", "uniprot_ac": "Q99MU3", "uniprot_id": "DSRAD_MOUSE", "refseq_ac": "NP_001139768", "glycoprotein": "yes", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Double-stranded RNA-specific adenosine deaminase", "type": "recommended" }, { "name": "3.5.4.37", "type": "synonym" }, { "name": "DRADA", "type": "synonym" }, { "name": "RNA adenosine deaminase 1", "type": "synonym" }, { "name": "RNA-specific adenosine deaminase p110 form", "type": 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musculus [10090]" } ], "protein_names": [ { "name": "Interferon-induced helicase C domain-containing protein 1", "type": "recommended" }, { "name": "3.6.4.13", "type": "synonym" }, { "name": "Helicard", "type": "synonym" }, { "name": "Helicase with 2 CARD domains", "type": "synonym" }, { "name": "Interferon induced with helicase C domain protein 1", "type": "synonym" }, { "name": "MDA-5", "type": "synonym" }, { "name": "Melanoma differentiation-associated protein 5", "type": "synonym" }, { "name": "RIG-I-like receptor 2", "type": "synonym" }, { "name": "RLR-2", "type": "synonym" }, { "name": "helicase with 2 CARD domains", "type": "synonym" }, { "name": "interferon induced with helicase C domain protein 1", "type": "synonym" }, { "name": "interferon-induced helicase C domain-containing protein 1 isoform 2", "type": "synonym" }, { "name": "interferon-induced helicase C domain-containing protein 1", "type": "synonym" }, { "name": "melanoma differentiation-associated protein 5", "type": 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"dNTPase", "type": "synonym" }, { "name": "mSAMHD1", "type": "synonym" } ], "gene_names": [ { "name": "Samhd1", "type": "recommended" }, { "name": "Mg21", "type": "synonym" } ], "record_id": "Q60710-1", "evidence": [ { "id": "0050629", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050629" } ] }, { "uniprot_canonical_ac": "Q9CWY8-1", "uniprot_ac": "Q9CWY8", "uniprot_id": "RNH2A_MOUSE", "refseq_ac": "NP_081463", "glycoprotein": "no", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Ribonuclease H2 subunit A", "type": "recommended" }, { "name": "3.1.26.4", "type": "synonym" }, { "name": "RNase H2 subunit A", "type": "synonym" }, { "name": "RNase HI large subunit", "type": "synonym" }, { "name": "Ribonuclease HI large subunit", "type": "synonym" }, { "name": "Ribonuclease HI subunit A", "type": "synonym" }, { "name": "ribonuclease H2 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"common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "Double-stranded RNA-specific adenosine deaminase", "type": "recommended" }, { "name": "136 kDa double-stranded RNA-binding protein", "type": "synonym" }, { "name": "3.5.4.37", "type": "synonym" }, { "name": "DRADA", "type": "synonym" }, { "name": "IFI-4", "type": "synonym" }, { "name": "Interferon-inducible protein 4", "type": "synonym" }, { "name": "K88DSRBP", "type": "synonym" }, { "name": "adenosine deaminase acting on RNA 1-A", "type": "synonym" }, { "name": "double-stranded RNA-specific adenosine deaminase isoform d", "type": "synonym" }, { "name": "dsRNA adenosine deaminase", "type": "synonym" }, { "name": "dsRNA adeonosine deaminase", "type": "synonym" }, { "name": "interferon-induced protein 4", "type": "synonym" }, { "name": "interferon-inducible protein 4", "type": "synonym" }, { "name": "p136", "type": "synonym" } ], "gene_names": [ { "name": "ADAR", 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], "record_id": "Q05635-1", "evidence": [ { "id": "0050629", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050629" } ] }, { "uniprot_canonical_ac": "P53942-1", "uniprot_ac": "P53942", "uniprot_id": "RNH2A_YEAST", "refseq_ac": "NP_014327", "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": "Ribonuclease H2 subunit A", "type": "recommended" }, { "name": "3.1.26.4", "type": "synonym" }, { "name": "RNase H(201)", "type": "synonym" }, { "name": "RNase H(35)", "type": "synonym" }, { "name": "RNase H2 subunit A", "type": "synonym" }, { "name": "RNase HI large subunit", "type": "synonym" }, { "name": "Ribonuclease HI large subunit", "type": "synonym" }, { "name": "Ribonuclease HI subunit A", "type": "synonym" }, { "name": "ribonuclease H2 catalytic subunit RNH201", "type": 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phenotype protein 1", "type": "synonym" } ], "gene_names": [ { "name": "MPH1", "type": "recommended" }, { "name": "MPH1", "type": "synonym" }, { "name": "YIB2C", "type": "synonym" } ], "record_id": "P40562-1", "evidence": [ { "id": "0050629", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050629" } ] }, { "uniprot_canonical_ac": "P55266-1", "uniprot_ac": "P55266", "uniprot_id": "DSRAD_RAT", "refseq_ac": "NP_112268", "glycoprotein": "yes", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "Double-stranded RNA-specific adenosine deaminase", "type": "recommended" }, { "name": "3.5.4.37", "type": "synonym" }, { "name": "DRADA", "type": "synonym" }, { "name": "double-stranded RNA-specific adenosine deaminase", "type": "synonym" } ], "gene_names": [ { "name": "Adar", "type": "recommended" }, { "name": "Adar", "type": "synonym" }, { "name": "Dsrad", "type": "synonym" } ], "record_id": "P55266-1", "evidence": [ { "id": "0050629", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050629" } ] }, { "uniprot_canonical_ac": "G3V6W5-1", "uniprot_ac": "G3V6W5", "uniprot_id": "G3V6W5_RAT", "refseq_ac": "NP_001102669", "glycoprotein": "no", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "Interferon-induced helicase C domain-containing protein 1", "type": "recommended" }, { "name": "3.6.4.13", "type": "synonym" }, { "name": "Helicase with 2 CARD domains", "type": "synonym" }, { "name": "Melanoma differentiation-associated protein 5", "type": "synonym" }, { "name": "RIG-I-like receptor 2", "type": "synonym" }, { "name": "interferon-induced helicase C domain-containing protein 1", "type": "synonym" } ], "gene_names": [ { "name": "Ifih1", "type": "recommended" }, { "name": "Ifih1", "type": "synonym" }, { "name": "RGD1560496", "type": "synonym" } ], "record_id": "G3V6W5-1", "evidence": [ { "id": "0050629", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050629" } ] }, { "uniprot_canonical_ac": "Q5XI96-1", "uniprot_ac": "Q5XI96", "uniprot_id": "RNH2B_RAT", "refseq_ac": "NP_001007008", "glycoprotein": "no", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "Ribonuclease H2 subunit B", "type": "recommended" }, { "name": "RNase H2 subunit B", "type": "synonym" }, { "name": "Ribonuclease HI subunit B", "type": "synonym" }, { "name": "ribonuclease H2 subunit B", "type": "synonym" }, { "name": "ribonuclease HI subunit B", "type": "synonym" } ], "gene_names": [ { "name": "Rnaseh2b", "type": "recommended" }, { "name": "Rnaseh2b", "type": "synonym" } ], "record_id": "Q5XI96-1", "evidence": [ { "id": "0050629", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050629" } ] }, { "uniprot_canonical_ac": "D3Z898-1", "uniprot_ac": "D3Z898", "uniprot_id": "D3Z898_RAT", "refseq_ac": "NP_001178672", "glycoprotein": "no", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "Deoxynucleoside triphosphate triphosphohydrolase SAMHD1", "type": "recommended" }, { "name": "SAM domain and HD domain, 1", "type": "synonym" }, { "name": "SAM domain and HD domain-containing protein 1", "type": "synonym" }, { "name": "deoxynucleoside triphosphate triphosphohydrolase SAMHD1", "type": "synonym" } ], "gene_names": [ { "name": "Samhd1", "type": "recommended" }, { "name": "Samhd1", "type": "synonym" } ], "record_id": "D3Z898-1", "evidence": [ { "id": "0050629", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050629" } ] }, { "uniprot_canonical_ac": "D4A434-1", "uniprot_ac": "D4A434", "uniprot_id": "D4A434_RAT", "refseq_ac": "NP_001388632", "glycoprotein": "no", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "AYP1 protein", "type": "synonym" }, { "name": "Ribonuclease H2, subunit C", "type": "synonym" }, { "name": "ribonuclease H2 subunit C", "type": "synonym" } ], "gene_names": [ { "name": "Rnaseh2c", "type": "recommended" }, { "name": "Rnaseh2c", "type": "synonym" } ], "record_id": "D4A434-1", "evidence": [ { "id": "0050629", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050629" } ] }, { "uniprot_canonical_ac": "Q5U209-1", "uniprot_ac": "Q5U209", "uniprot_id": "RNH2A_RAT", "refseq_ac": "NP_001013252", "glycoprotein": "no", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "Ribonuclease H2 subunit A", "type": "recommended" }, { "name": "3.1.26.4", "type": "synonym" }, { "name": "RNase H2 subunit A", "type": "synonym" }, { "name": "RNase HI large subunit", "type": "synonym" }, { "name": "Ribonuclease HI large subunit", "type": "synonym" }, { "name": "Ribonuclease HI subunit A", "type": "synonym" }, { "name": "ribonuclease H2 subunit A", "type": "synonym" }, { "name": "ribonuclease H2, large subunit", "type": "synonym" }, { "name": "ribonuclease HI large subunit", "type": "synonym" }, { "name": "ribonuclease HI subunit A", "type": "synonym" } ], "gene_names": [ { "name": "Rnaseh2a", "type": "recommended" }, { "name": "Thsd8", "type": "recommended" }, { "name": "Rnaseh2a", "type": "synonym" } ], "record_id": "Q5U209-1", "evidence": [ { "id": "0050629", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050629" } ] }, { "uniprot_canonical_ac": "Q5BK16-1", "uniprot_ac": "Q5BK16", "uniprot_id": "Q5BK16_RAT", "refseq_ac": "NP_001020160", "glycoprotein": "no", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "exodeoxyribonuclease III", "type": "recommended" }, { "name": "3.1.11.2", "type": "synonym" }, { "name": "three-prime repair exonuclease 1", "type": "synonym" } ], "gene_names": [ { "name": "Trex1", "type": "recommended" }, { "name": "RGD1309596", "type": "synonym" }, { "name": "Trex1", "type": "synonym" } ], "record_id": "Q5BK16-1", "evidence": [ { "id": "0050629", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050629" } ] }, { "uniprot_canonical_ac": "A1Z802-1", "uniprot_ac": "A1Z802", "uniprot_id": "A1Z802_DROME", "refseq_ac": "NP_610522", "glycoprotein": "no", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "CG12924-PA", "type": "synonym" }, { "name": "Lsm11-PA", "type": "synonym" }, { "name": "Lsm11", "type": "synonym" } ], "gene_names": [ { "name": "Lsm11", "type": "recommended" }, { "name": "CG12924", "type": "synonym" }, { "name": "DLsm11", "type": "synonym" }, { "name": "Dmel\\CG12924", "type": "synonym" }, { "name": "Dmel_CG12924", "type": "synonym" }, { "name": "LSM11", "type": "synonym" }, { "name": "Lsm11", "type": "synonym" }, { "name": "dLsm11", "type": "synonym" } ], "record_id": "A1Z802-1", "evidence": [ { "id": "0050629", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050629" } ] }, { "uniprot_canonical_ac": "Q9VYA4-1", "uniprot_ac": "Q9VYA4", "uniprot_id": "Q9VYA4_DROME", "refseq_ac": "NP_001285220", "glycoprotein": "no", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "Ribonuclease H2 subunit B", "type": "recommended" }, { "name": "CG11164-PB", "type": "synonym" }, { "name": "Ribonuclease HI subunit B", "type": "synonym" }, { "name": "uncharacterized protein, isoform B", "type": "synonym" } ], "gene_names": [ { "name": "Dmel\\CG11164", "type": "recommended" }, { "name": "CG11164", "type": "synonym" }, { "name": "Dmel\\CG11164", "type": "synonym" }, { "name": "Dmel_CG11164", "type": "synonym" } ], "record_id": "Q9VYA4-1", "evidence": [ { "id": "0050629", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050629" } ] }, { "uniprot_canonical_ac": "Q9VVY4-1", "uniprot_ac": "Q9VVY4", "uniprot_id": "Q9VVY4_DROME", "refseq_ac": "NP_001137974", "glycoprotein": "no", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "3.1.5.1", "type": "synonym" }, { "name": "CG9670-PB", "type": "synonym" }, { "name": "Falten, isoform B", "type": "synonym" }, { "name": "Falten, isoform C", "type": "synonym" }, { "name": "Falten, isoform D", "type": "synonym" }, { "name": "fal-PB", "type": "synonym" }, { "name": "falten, isoform B", "type": "synonym" } ], "gene_names": [ { "name": "fal", "type": "recommended" }, { "name": "CG9670", "type": "synonym" }, { "name": "Dmel\\CG9670", "type": "synonym" }, { "name": "Dmel_CG9670", "type": "synonym" }, { "name": "Q9VVY4_DROME", "type": "synonym" }, { "name": "fal", "type": "synonym" } ], "record_id": "Q9VVY4-1", "evidence": [ { "id": "0050629", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050629" } ] }, { "uniprot_canonical_ac": "Q9VPP5-1", "uniprot_ac": "Q9VPP5", "uniprot_id": "RNH2A_DROME", "refseq_ac": "NP_608521", "glycoprotein": "no", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "Ribonuclease H2 subunit A", "type": "recommended" }, { "name": "3.1.26.4", "type": "synonym" }, { "name": "CG13690-PA", "type": "synonym" }, { "name": "RNase H2 subunit A", "type": "synonym" }, { "name": "RNase HI large subunit", "type": "synonym" }, { "name": "Ribonuclease HI large subunit", "type": "synonym" }, { "name": "Ribonuclease HI subunit A", "type": "synonym" }, { "name": "uncharacterized protein", "type": "synonym" } ], "gene_names": [ { "name": "CG13690", "type": "synonym" }, { "name": "Dmel\\CG13690", "type": "synonym" } ], "record_id": "Q9VPP5-1", "evidence": [ { "id": "0050629", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050629" } ] }, { "uniprot_canonical_ac": "A1ZAW6-1", "uniprot_ac": "A1ZAW6", "uniprot_id": "A1ZAW6_DROME", "refseq_ac": "NP_725699", "glycoprotein": "no", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "CG30105-PA", "type": "synonym" }, { "name": "Uncharacterized protein", "type": "synonym" }, { "name": "uncharacterized protein", "type": "synonym" } ], "gene_names": [ { "name": "BcDNA:RE11282", "type": "recommended" }, { "name": "BcDNA:RE11282", "type": "synonym" }, { "name": "CG30105", "type": "synonym" }, { "name": "Dmel\\CG30105", "type": "synonym" }, { "name": "Dmel_CG30105", "type": "synonym" } ], "record_id": "A1ZAW6-1", "evidence": [ { "id": "0050629", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050629" } ] }, { "uniprot_canonical_ac": "Q9VQJ7-1", "uniprot_ac": "Q9VQJ7", "uniprot_id": "Q9VQJ7_DROME", "refseq_ac": "NP_001285571", "glycoprotein": "no", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "Exonuclease domain-containing protein", "type": "recommended" }, { "name": "CG3165-PB", "type": "synonym" }, { "name": "uncharacterized protein, isoform B", "type": "synonym" } ], "gene_names": [ { "name": "Dmel\\CG3165", "type": "recommended" }, { "name": "CG3165", "type": "synonym" }, { "name": "Dmel\\CG3165", "type": "synonym" }, { "name": "Dmel_CG3165", "type": "synonym" }, { "name": "TREX", "type": "synonym" } ], "record_id": "Q9VQJ7-1", "evidence": [ { "id": "0050629", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050629" } ] }, { "uniprot_canonical_ac": "P83369-1", "uniprot_ac": "P83369", "uniprot_id": "LSM11_HUMAN", "refseq_ac": "NP_775762", "glycoprotein": "no", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "U7 snRNA-associated Sm-like protein LSm11", "type": "recommended" }, { "name": "U7 snRNA-associated Sm-like protein LSm11", "type": "synonym" } ], "gene_names": [ { "name": "LSM11", "type": "recommended" }, { "name": "AGS8", "type": "synonym" }, { "name": "LSM11", "type": "synonym" } ], "record_id": "P83369-1", "evidence": [ { "id": "0050629", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050629" } ] } ], "glycans": [], "biomarkers": [], "association_flag": "1000", "record_id": "doid.0050629" }