{ "disease_id": "DOID:0060786", "recommended_name": { "id": "DOID:0060786", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0060786", "name": "hypomyelinating leukodystrophy", "description": "A leukodystrophy characterized by improper formation of the myelin sheath in the central nervous system resulting in T2 hyperintensity and variable T1 signal on magnetic resonance imaging." }, "synonyms": [ { "id": "DOID:0060786", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0060786", "name": "HLD", "description": "" }, { "id": "MONDO:0010714", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010714", "name": "Pelizaeus-Merzbacher spectrum disorder", "description": "An X-linked leukodystrophy characterized by developmental delay, nystagmus, hypotonia, spasticity, and variable intellectual deficit. 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"https://monarchinitiative.org/disease/MONDO:0010714", "name": "Pelizaeus-Merzbacher spectrum disorder", "description": "" }, { "id": "MONDO:0010714", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010714", "name": "Sudanophilic leukodystrophy, Paelizeus-Merzbacher type", "description": "" }, { "id": "MONDO:0010714", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010714", "name": "diffuse familial brain sclerosis", "description": "" }, { "id": "MONDO:0010714", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010714", "name": "sudanophilic leukodystrophy, Paelizeus-Merzbacher type", "description": "" }, { "id": "MONDO:0010714", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010714", "name": "Pelizaeus Merzbacher disease", "description": "" }, { "id": "MIM:312080", "resource": "MIM", "url": "https://www.omim.org/entry/312080", "name": "Leukodystrophy, hypomyelinating, 1", "description": "Leukodystrophy, hypomyelinating, 1" } ], "children": [ { "id": "DOID:0060787", "label": "hypomyelinating leukodystrophy 2", "link_status": true, "children": [] }, { "id": "DOID:0060788", "label": "hypomyelinating leukodystrophy 10", "link_status": true, "children": [] }, { "id": "DOID:0060789", "label": "hypomyelinating leukodystrophy 4", "link_status": true, "children": [] }, { "id": "DOID:0060790", "label": "hypomyelinating leukodystrophy 3", "link_status": true, "children": [] }, { "id": "DOID:0060791", "label": "hypomyelinating leukodystrophy 9", "link_status": true, "children": [] }, { "id": "DOID:0060792", "label": "hypomyelinating leukodystrophy 11", "link_status": true, "children": [] }, { "id": "DOID:0060793", "label": "hypomyelinating leukodystrophy 5", "link_status": true, "children": [] }, { "id": "DOID:0060794", "label": "hypomyelinating leukodystrophy 7", "link_status": true, "children": [] }, { "id": "DOID:0060795", "label": "hypomyelinating leukodystrophy 13", "link_status": true, "children": [] }, { "id": "DOID:0060796", "label": "hypomyelinating leukodystrophy 12", "link_status": true, "children": [] }, { "id": "DOID:0060797", "label": "hypomyelinating leukodystrophy 8", "link_status": true, "children": [] }, { "id": "DOID:0060798", "label": "hypomyelinating leukodystrophy 6", "link_status": true, "children": [] }, { "id": "DOID:0070397", "label": "hypomyelinating leukodystrophy 23", "link_status": true, "children": [] }, { "id": "DOID:0070398", "label": "hypomyelinating leukodystrophy 15", "link_status": true, "children": [] }, { "id": "DOID:0070399", "label": "hypomyelinating leukodystrophy 18", "link_status": true, "children": [] }, { "id": "DOID:0070400", "label": "hypomyelinating leukodystrophy 19", "link_status": true, "children": [] }, { "id": "DOID:0070401", "label": "hypomyelinating leukodystrophy 25", "link_status": true, "children": [] }, { "id": "DOID:0070402", "label": "hypomyelinating leukodystrophy 22", "link_status": true, "children": [] }, { "id": "DOID:0070403", "label": "hypomyelinating leukodystrophy 26", "link_status": true, "children": [] }, { "id": "DOID:0070404", "label": "hypomyelinating leukodystrophy 17", "link_status": true, "children": [] }, { "id": "DOID:0070405", "label": "hypomyelinating leukodystrophy 16", "link_status": true, "children": [] }, { "id": "DOID:0070406", "label": "hypomyelinating leukodystrophy 24", "link_status": true, "children": [] }, { "id": "DOID:0070407", "label": "hypomyelinating leukodystrophy 21", "link_status": true, "children": [] }, { "id": "DOID:0080296", "label": "hypomyelinating leukodystrophy 14", "link_status": true, "children": [] }, { "id": "DOID:0112153", "label": "hypomyelinating leukodystrophy 20", "link_status": true, "children": [] }, { "id": "DOID:3210", "label": "Pelizaeus-Merzbacher disease", "link_status": true, "children": [] } ], "id_list": [ "DOID:0060792", "DOID:3210", "DOID:0060789", "DOID:0070402", "DOID:0060797", 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polymerase I 194 kDa subunit", "type": "synonym" }, { "name": "RNA polymerase I subunit A1", "type": "synonym" }, { "name": "RPA194", "type": "synonym" } ], "gene_names": [ { "name": "Polr1a", "type": "recommended" }, { "name": "194kDa", "type": "synonym" }, { "name": "2900087K15Rik", "type": "synonym" }, { "name": "3010014K16Rik", "type": "synonym" }, { "name": "Polr1a", "type": "synonym" }, { "name": "RPA194", "type": "synonym" }, { "name": "Rpa1", "type": "synonym" }, { "name": "Rpo1-4", "type": "synonym" }, { "name": "mRPA1", "type": "synonym" } ], "record_id": "O35134-1", "evidence": [ { "id": "0060786", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060786" } ] }, { "uniprot_canonical_ac": "P59470-1", "uniprot_ac": "P59470", "uniprot_id": "RPC2_MOUSE", "refseq_ac": "NP_081699", "glycoprotein": "yes", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], 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"record_id": "P04051-1", "evidence": [ { "id": "0060786", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060786" } ] }, { "uniprot_canonical_ac": "P07703-1", "uniprot_ac": "P07703", "uniprot_id": "RPAC1_YEAST", "refseq_ac": "NP_015435", "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": "DNA-directed RNA polymerases I and III subunit RPAC1", "type": "recommended" }, { "name": "AC40", "type": "synonym" }, { "name": "C37", "type": "synonym" }, { "name": "C40", "type": "synonym" }, { "name": "DNA-directed RNA polymerase core subunit RPC40", "type": "synonym" }, { "name": "DNA-directed RNA polymerases I and III 40 kDa polypeptide", "type": "synonym" }, { "name": "RNA polymerases I and III subunit AC1", "type": "synonym" } ], "gene_names": [ { "name": "RPC40", "type": 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subunit C11", "type": "synonym" } ], "gene_names": [ { "name": "RPC11", "type": "recommended" }, { "name": "RPC11", "type": "synonym" }, { "name": "YD9609.01C", "type": "synonym" } ], "record_id": "Q04307-1", "evidence": [ { "id": "0060786", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060786" } ] }, { "uniprot_canonical_ac": "P10964-1", "uniprot_ac": "P10964", "uniprot_id": "RPA1_YEAST", "refseq_ac": "NP_014986", "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": "DNA-directed RNA polymerase I subunit RPA190", "type": "recommended" }, { "name": "2.7.7.6", "type": "synonym" }, { "name": "A190", "type": "synonym" }, { "name": "DNA-directed RNA polymerase I 190 kDa polypeptide", "type": "synonym" }, { "name": "DNA-directed RNA polymerase I core subunit RPA190", 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"synonym" }, { "name": "DNA-directed RNA polymerase I largest subunit", "type": "synonym" }, { "name": "DNA-directed RNA polymerase I subunit A", "type": "synonym" }, { "name": "DNA-directed RNA polymerase I subunit RPA1", "type": "synonym" }, { "name": "RNA polymerase 1-4", "type": "synonym" }, { "name": "RNA polymerase I 194 kDa subunit", "type": "synonym" }, { "name": "RNA polymerase I subunit A1", "type": "synonym" }, { "name": "RPA194", "type": "synonym" }, { "name": "polymerase (RNA) I polypeptide A", "type": "synonym" }, { "name": "polymerase (RNA) I subunit A", "type": "synonym" } ], "gene_names": [ { "name": "Polr1a", "type": "recommended" }, { "name": "Polr1a", "type": "synonym" }, { "name": "Rpa1", "type": "synonym" }, { "name": "Rpo1-4", "type": "synonym" } ], "record_id": "O54889-1", "evidence": [ { "id": "0060786", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060786" } ] }, { "uniprot_canonical_ac": "A0ABK0L8N3-1", "uniprot_ac": "A0ABK0L8N3", 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"A0ABK0M2B2_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": "DNA-directed RNA polymerase III subunit RPC10", "type": "recommended" }, { "name": "DNA-directed RNA polymerase III subunit K", "type": "synonym" }, { "name": "RNA polymerase III subunit C11", "type": "synonym" } ], "gene_names": [ { "name": "Polr3k", "type": "recommended" } ], "record_id": "A0ABK0M2B2-1", "evidence": [ { "id": "0060786", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060786" } ] }, { "uniprot_canonical_ac": "E9PTB6-1", "uniprot_ac": "E9PTB6", "uniprot_id": "E9PTB6_RAT", "refseq_ac": "NP_001401818", "glycoprotein": "yes", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "DNA-directed RNA polymerase subunit", "type": "recommended" }, { "name": "2.7.7.6", "type": "synonym" }, { "name": "DNA-directed RNA polymerase III subunit RPC1", "type": "synonym" }, { "name": "polymerase (RNA) III (DNA directed) polypeptide A, 155kDa", "type": "synonym" }, { "name": "polymerase (RNA) III subunit A", "type": "synonym" } ], "gene_names": [ { "name": "Polr3a", "type": "recommended" }, { "name": "Polr3a", "type": "synonym" }, { "name": "RGD1305574", "type": "synonym" } ], "record_id": "E9PTB6-1", "evidence": [ { "id": "0060786", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060786" } ] }, { "uniprot_canonical_ac": "D3ZXB2-1", "uniprot_ac": "D3ZXB2", "uniprot_id": "D3ZXB2_RAT", "refseq_ac": "NP_001417712", "glycoprotein": "no", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "Sphingolipid delta(4)-desaturase DES1", "type": "recommended" }, { "name": "1.14.19.17", "type": "synonym" }, { "name": "Degenerative spermatocyte homolog 1", "type": "synonym" }, { "name": "Dihydroceramide desaturase-1", "type": "synonym" }, { "name": "Retinol isomerase", "type": "synonym" }, { "name": "sphingolipid delta(4)-desaturase DES1", "type": "synonym" }, { "name": "uncharacterized protein LOC289322", "type": "synonym" } ], "gene_names": [ { "name": "Degs1l2", "type": "recommended" }, { "name": "Degs1l2", "type": "synonym" }, { "name": "RGD1564463", "type": "synonym" } ], "record_id": "D3ZXB2-1", "evidence": [ { "id": "0060786", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060786" } ] }, { "uniprot_canonical_ac": "Q5XIF5-1", "uniprot_ac": "Q5XIF5", "uniprot_id": "DEGS1_RAT", "refseq_ac": "NP_445775", "glycoprotein": "no", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "Sphingolipid delta(4)-desaturase DES1", "type": "recommended" }, { "name": "1.14.19.17", "type": "synonym" }, { "name": "5.2.1.-", "type": "synonym" }, { "name": "Degenerative spermatocyte homolog 1", "type": "synonym" }, { "name": "Degenerative spermatocyte-like protein RDES", "type": "synonym" }, { "name": "Dihydroceramide desaturase-1", "type": "synonym" }, { "name": "Retinol isomerase", "type": "synonym" }, { "name": "degenerative spermatocyte homolog 1, lipid desaturase", "type": "synonym" }, { "name": "degenerative spermatocyte-like protein RDES", "type": "synonym" }, { "name": "dihydroceramide desaturase-1", "type": "synonym" }, { "name": "retinol isomerase", "type": "synonym" }, { "name": "sphingolipid delta(4)-desaturase DES1", "type": "synonym" } ], "gene_names": [ { "name": "Degs1", "type": "recommended" }, { "name": "Degs1", "type": "synonym" }, { "name": "Degs", "type": "synonym" }, { "name": "Des1", "type": "synonym" } ], "record_id": "Q5XIF5-1", "evidence": [ { "id": "0060786", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060786" } ] }, { "uniprot_canonical_ac": "M0R9Z4-1", "uniprot_ac": "M0R9Z4", "uniprot_id": "M0R9Z4_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": "Delta(4)-desaturase, sphingolipid 1 like 1", "type": "synonym" } ], "gene_names": [ { "name": "Degs1l1", "type": "recommended" }, { "name": "LOC498300", "type": "synonym" } ], "record_id": "M0R9Z4-1", "evidence": [ { "id": "0060786", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060786" } ] }, { "uniprot_canonical_ac": "P91875-1", "uniprot_ac": "P91875", "uniprot_id": "RPA1_DROME", "refseq_ac": "NP_523743", "glycoprotein": "yes", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "DNA-directed RNA polymerase I subunit A", "type": "recommended" }, { "name": "2.7.7.6", "type": "synonym" }, { "name": "CG10122-PA", "type": "synonym" }, { "name": "DNA-directed RNA polymerase I largest subunit", "type": "synonym" }, { "name": "Polr1A-PA", "type": "synonym" }, { "name": "RNA polymerase I subunit A1", "type": "synonym" }, { "name": "RNA polymerase I subunit A", "type": "synonym" }, { "name": "RNA polymerase I subunit", "type": "synonym" }, { "name": "RNA polymerase I", "type": "synonym" } ], "gene_names": [ { "name": "PolR1A", "type": "recommended" }, { "name": "153129_at", "type": "synonym" }, { "name": "CG10122", "type": "synonym" }, { "name": "DmRPA1", "type": "synonym" }, { "name": "Dmel\\CG10122", "type": "synonym" }, { "name": "Polr1A", "type": "synonym" }, { "name": "RPA190", "type": "synonym" }, { "name": "RPA1", "type": "synonym" }, { "name": "RpI1", "type": "synonym" }, { "name": "Rpl1", "type": "synonym" } ], "record_id": "P91875-1", "evidence": [ { "id": "0060786", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060786" } ] }, { "uniprot_canonical_ac": "A8JUY3-1", "uniprot_ac": "A8JUY3", "uniprot_id": "A8JUY3_DROME", "refseq_ac": "NP_001096987", "glycoprotein": "no", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "DNA-directed RNA polymerase subunit", "type": "recommended" }, { "name": "2.7.7.6", "type": "synonym" }, { "name": "CG17209-PC", "type": "synonym" }, { "name": "Polr3A-PC", "type": "synonym" }, { "name": "RNA polymerase III subunit A", "type": "synonym" }, { "name": "RNA polymerase III subunit C160", "type": "synonym" } ], "gene_names": [ { "name": "Polr3A", "type": "recommended" }, { "name": "C160", "type": "synonym" }, { "name": "CG17209", "type": "synonym" }, { "name": "Dmel\\CG17209", "type": "synonym" }, { "name": "Dmel_CG17209", "type": "synonym" }, { "name": "PolR3A", "type": "synonym" }, { "name": "Polr3A", "type": "synonym" }, { "name": "RPO31", "type": "synonym" }, { "name": "RpIIIC160", "type": "synonym" }, { "name": "Rpc160", "type": "synonym" }, { "name": "dC160", "type": "synonym" } ], "record_id": "A8JUY3-1", "evidence": [ { "id": "0060786", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060786" } ] }, { "uniprot_canonical_ac": "A1ZBX4-1", "uniprot_ac": "A1ZBX4", "uniprot_id": "A1ZBX4_DROME", "refseq_ac": "NP_001027443", "glycoprotein": "no", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "DNA-directed RNA polymerase subunit", "type": "recommended" }, { "name": "CG33785-PA", "type": "synonym" }, { "name": "Polr3K-PA", "type": "synonym" }, { "name": "RNA polymerase III subunit K", "type": "synonym" } ], "gene_names": [ { "name": "Polr3K", "type": "recommended" }, { "name": "CG10438a", "type": "synonym" }, { "name": "CG10438", "type": "synonym" }, { "name": "CG30144", "type": "synonym" }, { "name": "CG33005-ORFA", "type": "synonym" }, { "name": "CG33005ORFA", "type": "synonym" }, { "name": "CG33005", "type": "synonym" }, { "name": "CG33785", "type": "synonym" }, { "name": "Dmel\\CG33785", "type": "synonym" }, { "name": "Dmel_CG33785", "type": "synonym" }, { "name": "Dromel_CG33786_FBtr0091786_uORF", "type": "synonym" }, { "name": "Polr3K", "type": "synonym" }, { "name": "RPC11", "type": "synonym" } ], "record_id": "A1ZBX4-1", "evidence": [ { "id": "0060786", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060786" } ] }, { "uniprot_canonical_ac": "P25167-1", "uniprot_ac": "P25167", "uniprot_id": "RPC2_DROME", "refseq_ac": "NP_523706", 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"name": "C128", "type": "synonym" }, { "name": "CG8344", "type": "synonym" }, { "name": "DmRP128", "type": "synonym" }, { "name": "Dmel\\CG8344", "type": "synonym" }, { "name": "Polr3B", "type": "synonym" }, { "name": "RET1", "type": "synonym" }, { "name": "RP128", "type": "synonym" }, { "name": "RPC2", "type": "synonym" }, { "name": "Rp128", "type": "synonym" }, { "name": "RpIII128", "type": "synonym" } ], "record_id": "P25167-1", "evidence": [ { "id": "0060786", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060786" } ] }, { "uniprot_canonical_ac": "Q94515-1", "uniprot_ac": "Q94515", "uniprot_id": "DEGS1_DROME", "refseq_ac": "NP_476594", "glycoprotein": "no", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "Sphingolipid delta(4)-desaturase DES1", "type": "recommended" }, { "name": "1.14.19.17", "type": "synonym" }, { "name": "CG9078-PA", "type": "synonym" }, { "name": "DES-1", "type": "synonym" }, { "name": "Degenerative spermatocyte homolog 1", "type": "synonym" }, { "name": "Dihydroceramide desaturase-1", "type": "synonym" }, { "name": "degenerating spermatocyte", "type": "synonym" }, { "name": "degenerative spermatocyte", "type": "synonym" }, { "name": "ifc-PA", "type": "synonym" }, { "name": "infertile crescent, isoform A", "type": "synonym" }, { "name": "infertile crescent", "type": "synonym" }, { "name": "sphingolipid delta 4 desaturase", "type": "synonym" }, { "name": "sphingosine Delta-4 desaturase", "type": "synonym" } ], "gene_names": [ { "name": "ifc", "type": "recommended" }, { "name": "CG9078", "type": "synonym" }, { "name": "DES-1", "type": "synonym" }, { "name": "Des-1", "type": "synonym" }, { "name": "Des1", "type": "synonym" }, { "name": "Dmel\\CG9078", "type": "synonym" }, { "name": "Dmel_CG9078", "type": "synonym" }, { "name": "Ifc", "type": "synonym" }, { 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"name": "DNA-directed RNA polymerase III subunit B", "type": "synonym" }, { "name": "DNA-directed RNA polymerase III subunit RPC2 isoform 2", "type": "synonym" }, { "name": "DNA-directed RNA polymerase III subunit RPC2", "type": "synonym" }, { "name": "RNA polymerase III subunit C2", "type": "synonym" }, { "name": "interphase nucleus and mitotic apparatus associated protein", "type": "synonym" }, { "name": "polymerase (RNA) III (DNA directed) polypeptide B", "type": "synonym" }, { "name": "polymerase (RNA) III subunit B", "type": "synonym" } ], "gene_names": [ { "name": "POLR3B", "type": "recommended" }, { "name": "C128", "type": "synonym" }, { "name": "CMT1I", "type": "synonym" }, { "name": "HLD8", "type": "synonym" }, { "name": "INMAP", "type": "synonym" }, { "name": "POLR3B", "type": "synonym" }, { "name": "RPC2", "type": "synonym" } ], "record_id": "Q9NW08-1", "evidence": [ { "id": "0060786", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060786" } ] }, { 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"Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "DNA-directed RNA polymerase III subunit RPC1", "type": "recommended" }, { "name": "2.7.7.6", "type": "synonym" }, { "name": "DNA-directed RNA polymerase III largest subunit", "type": "synonym" }, { "name": "DNA-directed RNA polymerase III subunit A", "type": "synonym" }, { "name": "DNA-directed RNA polymerase III subunit RPC1", "type": "synonym" }, { "name": "RNA polymerase III 155 kDa subunit", "type": "synonym" }, { "name": "RNA polymerase III subunit C160", "type": "synonym" }, { "name": "RNA polymerase III subunit C1", "type": "synonym" }, { "name": "RNA polymerase III subunit RPC155-D", "type": "synonym" }, { "name": "RPC155", "type": "synonym" }, { "name": "polymerase (RNA) III (DNA directed) polypeptide A, 155kDa", "type": "synonym" }, { "name": "polymerase (RNA) III subunit A", "type": "synonym" } ], "gene_names": [ { "name": "POLR3A", "type": "recommended" }, { "name": "ADDH", "type": "synonym" }, { "name": "C160", "type": "synonym" }, { "name": "HLD7", "type": "synonym" }, { "name": "POLR3A", "type": "synonym" }, { "name": "RPC155", "type": "synonym" }, { "name": "RPC1", "type": "synonym" }, { "name": "WDRTS", "type": "synonym" }, { "name": "hRPC155", "type": "synonym" } ], "record_id": "O14802-1", "evidence": [ { "id": "0060786", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060786" } ] }, { "uniprot_canonical_ac": "O15121-1", "uniprot_ac": "O15121", "uniprot_id": "DEGS1_HUMAN", "refseq_ac": "NP_003667", "glycoprotein": "yes", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "Sphingolipid delta(4)-desaturase DES1", "type": "recommended" }, { "name": "1.14.19.17", "type": "synonym" }, { "name": "5.2.1.-", "type": "synonym" }, { "name": "Cell migration-inducing gene 15 protein", "type": "synonym" }, { "name": "Degenerative spermatocyte homolog 1", "type": "synonym" }, { "name": "Dihydroceramide desaturase-1", "type": "synonym" }, { "name": "Membrane lipid desaturase", "type": "synonym" }, { "name": "Retinol isomerase", "type": "synonym" }, { "name": "cell migration-inducing gene 15 protein", "type": "synonym" }, { "name": "degenerative spermatocyte homolog 1, lipid desaturase", "type": "synonym" }, { "name": "degenerative spermatocyte homolog, lipid desaturase", "type": "synonym" }, { "name": "dihydroceramide desaturase 1", "type": "synonym" }, { "name": "membrane fatty acid (lipid) desaturase", "type": "synonym" }, { "name": "membrane lipid desaturase", "type": "synonym" }, { "name": "migration-inducing gene 15 protein", "type": "synonym" }, { "name": "retinol isomerase", "type": "synonym" }, { "name": "sphingolipid delta 4 desaturase", "type": "synonym" }, { "name": "sphingolipid delta(4)-desaturase 1", "type": "synonym" }, { "name": "sphingolipid delta(4)-desaturase DES1 isoform 1", "type": "synonym" } ], "gene_names": [ { "name": "DEGS1", "type": "recommended" }, { "name": "DEGS-1", "type": "synonym" }, { "name": "DEGS1", "type": "synonym" }, { "name": "DEGS", "type": "synonym" }, { "name": "DES1", "type": "synonym" }, { "name": "Des-1", "type": "synonym" }, { "name": "FADS7", "type": "synonym" }, { "name": "HLD18", "type": "synonym" }, { "name": "MIG15", "type": "synonym" }, { "name": "MLD", "type": "synonym" } ], "record_id": "O15121-1", "evidence": [ { "id": "0060786", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060786" } ] }, { "uniprot_canonical_ac": "O95602-1", "uniprot_ac": "O95602", "uniprot_id": "RPA1_HUMAN", "refseq_ac": "NP_056240", "glycoprotein": "yes", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "DNA-directed RNA polymerase I subunit RPA1", "type": "recommended" }, { "name": "2.7.7.6", "type": "synonym" }, { "name": "A190", "type": "synonym" }, { "name": "DNA-directed RNA polymerase I largest subunit", "type": "synonym" }, { "name": "DNA-directed RNA polymerase I subunit A1", "type": "synonym" }, { "name": "DNA-directed RNA polymerase I subunit A", "type": "synonym" }, { "name": "DNA-directed RNA polymerase I subunit RPA1", "type": "synonym" }, { "name": "RNA polymerase I 194 kDa subunit", "type": "synonym" }, { "name": "RNA polymerase I subunit A1", "type": "synonym" }, { "name": "RPA194", "type": "synonym" }, { "name": "polymerase (RNA) I polypeptide A, 194kDa", "type": "synonym" }, { "name": "polymerase (RNA) I subunit A", "type": "synonym" } ], "gene_names": [ { "name": "POLR1A", "type": "recommended" }, { "name": "A190", "type": "synonym" }, { "name": "AFDCIN", "type": "synonym" }, { "name": "HLD27", "type": "synonym" }, { "name": "POLR1A", "type": "synonym" }, { "name": "RPA190", "type": "synonym" }, { "name": "RPA194", "type": "synonym" }, { "name": "RPA1", "type": "synonym" }, { "name": "RPO1-4", "type": "synonym" }, { "name": "RPO14", "type": "synonym" } ], "record_id": "O95602-1", "evidence": [ { "id": "0060786", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060786" } ] } ], "glycans": [], "biomarkers": [], "association_flag": "1000", "record_id": "doid.0060786" }