{ "disease_id": "DOID:0080418", "recommended_name": { "id": "DOID:0080418", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080418", "name": "developmental and epileptic encephalopathy 54", "description": "A developmental and epileptic encephalopathy characterized by delayed psychomotor development, early-onset refractory seizures, and severe intellectual disability that has_material_basis_in heterozygous mutation in the HNRNPU gene on chromosome 1q44." }, "synonyms": [ { "id": "DOID:0080418", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080418", "name": "DEE54", "description": "" }, { "id": "DOID:0080418", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080418", "name": "early infantile epileptic encephalopathy 54", "description": "" }, { "id": "MONDO:0033363", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0033363", "name": "developmental and epileptic encephalopathy, 54", "description": "" }, { "id": "MONDO:0033363", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0033363", "name": "DEE54", "description": "" }, { "id": "MONDO:0033363", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0033363", "name": "EIEE54", "description": "" }, { "id": "MONDO:0033363", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0033363", "name": "HNRNPU-Related Disorder", "description": "" }, { "id": "MONDO:0033363", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0033363", "name": "developmental and epileptic encephalopathy 54", "description": "" }, { "id": "MONDO:0033363", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0033363", "name": "epileptic encephalopathy, early infantile, 54", "description": "" }, { "id": "MIM:617391", "resource": "MIM", "url": "https://www.omim.org/entry/617391", "name": "Developmental and epileptic encephalopathy 54", "description": "Developmental and epileptic encephalopathy 54" } ], "children": [], "id_list": [ "DOID:0080418" ], "unlinked_id_list": [], "crossref": [ { "id": "DOID:0080418", "database": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080418", "categories": [] }, { "id": "MONDO:0033363", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0033363", "categories": [] }, { "id": "MIM:617391", "database": "MIM", "url": "https://www.omim.org/entry/617391", "categories": [] } ], "proteins": [ { "uniprot_canonical_ac": "E1JGL8-1", "uniprot_ac": "E1JGL8", "uniprot_id": "E1JGL8_DROME", "refseq_ac": "NP_001163196", "glycoprotein": "yes", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "CG30122-PC", "resource": "RefSeq", "type": "synonym" }, { "name": "Uncharacterized protein, isoform C", "resource": "UniProtKB", "type": "synonym" }, { "name": "uncharacterized protein, isoform C", "resource": "RefSeq", "type": "synonym" } ], "gene_names": [ { "name": "CG5477", "resource": "UniProtKB", "type": "recommended" }, { "name": "Dmel\\CG30122", "resource": "UniProtKB", "type": "recommended" }, { "name": "hnRNP U", "resource": "UniProtKB", "type": "recommended" }, { "name": "CG18610; cg30122; CG5477; Dmel\\CG30122; hnRNP U; HNRNPU1; LD11002; SAF-A", "resource": "RefSeq", "type": "synonym" }, { "name": "CG18610", "resource": "UniProtKB", "type": "synonym" }, { "name": "CG30122", "resource": "RefSeq", "type": "synonym" }, { "name": "CG30122", "resource": "UniProtKB", "type": "synonym" }, { "name": "CG5477", "resource": "UniProtKB", "type": "synonym" }, { "name": "Dmel\\CG30122", "resource": "UniProtKB", "type": "synonym" }, { "name": "Dmel_CG30122", "resource": "UniProtKB", "type": "synonym" }, { "name": "LD11002", "resource": "UniProtKB", "type": "synonym" }, { "name": "SAF-A", "resource": "UniProtKB", "type": "synonym" }, { "name": "hnRNP U", "resource": "UniProtKB", "type": "synonym" } ], "evidence": [ { "id": "0080418", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0080418" } ] }, { "uniprot_canonical_ac": "Q8VEK3-1", "uniprot_ac": "Q8VEK3", "uniprot_id": "HNRPU_MOUSE", "refseq_ac": "NP_058085", "glycoprotein": "yes", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Heterogeneous nuclear ribonucleoprotein U", "resource": "UniProtKB", "type": "recommended" }, { "name": "SAF-A", "resource": "UniProtKB", "type": "synonym" }, { "name": "Scaffold-attachment factor A", "resource": "UniProtKB", "type": "synonym" }, { "name": "heterogeneous nuclear ribonucleoprotein U", "resource": "RefSeq", "type": "synonym" }, { "name": "heterogenous nuclear ribonucleoprotein U; nuclear matrix protein sp120; scaffold attachment factor A", "resource": "RefSeq", "type": "synonym" }, { "name": "hnRNP U", "resource": "UniProtKB", "type": "synonym" } ], "gene_names": [ { "name": "Hnrnpu", "resource": "UniProtKB", "type": "recommended" }, { "name": "Gm28062", "resource": "UniProtKB", "type": "synonym" }, { "name": "Hnrnpu", "resource": "RefSeq", "type": "synonym" }, { "name": "Hnrpu", "resource": "UniProtKB", "type": "synonym" }, { "name": "hnRNP U; Hnrpu; SAFA; Sp120", "resource": "RefSeq", "type": "synonym" } ], "evidence": [ { "id": "0080418", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0080418" } ] }, { "uniprot_canonical_ac": "Q00839-1", "uniprot_ac": "Q00839", "uniprot_id": "HNRPU_HUMAN", "refseq_ac": "NP_004492", "glycoprotein": "yes", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "Heterogeneous nuclear ribonucleoprotein U", "resource": "UniProtKB", "type": "recommended" }, { "name": "GRIP120", "resource": "UniProtKB", "type": "synonym" }, { "name": "Nuclear p120 ribonucleoprotein", "resource": "UniProtKB", "type": "synonym" }, { "name": "SAF-A", "resource": "UniProtKB", "type": "synonym" }, { "name": "Scaffold-attachment factor A", "resource": "UniProtKB", "type": "synonym" }, { "name": "heterogeneous nuclear ribonucleoprotein U isoform b", "resource": "RefSeq", "type": "synonym" }, { "name": "hnRNP U", "resource": "UniProtKB", "type": "synonym" }, { "name": "p120 nuclear protein; heterogeneous nuclear ribonucleoprotein U (scaffold attachment factor A); nuclear p120 ribonucleoprotein; HNRNPU antisense RNA 1", "resource": "RefSeq", "type": "synonym" }, { "name": "p120", "resource": "UniProtKB", "type": "synonym" }, { "name": "pp120", "resource": "UniProtKB", "type": "synonym" } ], "gene_names": [ { "name": "HNRNPU", "resource": "UniProtKB", "type": "recommended" }, { "name": "C1orf199", "resource": "UniProtKB", "type": "synonym" }, { "name": "DEE54; EIEE54; GRIP120; hnRNP U; HNRNPU-AS1; HNRPU; pp120; SAF-A; SAFA; U21.1", "resource": "RefSeq", "type": "synonym" }, { "name": "HNRNPU", "resource": "RefSeq", "type": "synonym" }, { "name": "HNRPU", "resource": "UniProtKB", "type": "synonym" }, { "name": "SAFA", "resource": "UniProtKB", "type": "synonym" }, { "name": "U21.1", "resource": "UniProtKB", "type": "synonym" } ], "evidence": [ { "id": "0080418", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0080418" }, { "id": "617391", "database": "MIM", "url": "https://www.omim.org/entry/617391" } ] }, { "uniprot_canonical_ac": "E7F3J2-1", "uniprot_ac": "E7F3J2", "uniprot_id": "E7F3J2_DANRE", "refseq_ac": "XP_694691", "glycoprotein": "no", "species": [ { "name": "Danio rerio", "taxid": 7955, "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "protein_names": [ { "name": "Heterogeneous nuclear ribonucleoprotein U isoform X1", "resource": "UniProtKB", "type": "synonym" }, { "name": "Heterogeneous nuclear ribonucleoprotein Ua", "resource": "UniProtKB", "type": "synonym" }, { "name": "heterogeneous nuclear ribonucleoprotein U isoform X1", "resource": "RefSeq", "type": "synonym" } ], "gene_names": [ { "name": "hnrnpua", "resource": "UniProtKB", "type": "recommended" }, { "name": "hnrnpua", "resource": "RefSeq", "type": "synonym" } ], "evidence": [ { "id": "0080418", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0080418" } ] }, { "uniprot_canonical_ac": "Q5RHQ7-1", "uniprot_ac": "Q5RHQ7", "uniprot_id": "Q5RHQ7_DANRE", "refseq_ac": "NP_001028767", "glycoprotein": "no", "species": [ { "name": "Danio rerio", "taxid": 7955, "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "protein_names": [ { "name": "Heterogeneous nuclear ribonucleoprotein Ub", "resource": "UniProtKB", "type": "synonym" }, { "name": "heterogeneous nuclear ribonucleoprotein Ub", "resource": "RefSeq", "type": "synonym" }, { "name": "nuclear ribonucleoprotein U-like protein; heterogeneous nuclear ribonucleoprotein U", "resource": "RefSeq", "type": "synonym" } ], "gene_names": [ { "name": "hnrnpub", "resource": "UniProtKB", "type": "recommended" }, { "name": "hnrnpu; hnrpu; wu:fa66f11; wu:fc18b08; wu:fi89c08; zgc:111835; zgc:136480", "resource": "RefSeq", "type": "synonym" }, { "name": "hnrnpub", "resource": "RefSeq", "type": "synonym" }, { "name": "hnrnpu", "resource": "UniProtKB", "type": "synonym" }, { "name": "hnrpu", "resource": "UniProtKB", "type": "synonym" }, { "name": "wu:fa66f11", "resource": "UniProtKB", "type": "synonym" }, { "name": "wu:fc18b08", "resource": "UniProtKB", "type": "synonym" }, { "name": "wu:fi89c08", "resource": "UniProtKB", "type": "synonym" }, { "name": "zgc:111835", "resource": "UniProtKB", "type": "synonym" }, { "name": "zgc:136480", "resource": "UniProtKB", "type": "synonym" } ], "evidence": [ { "id": "0080418", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0080418" } ] }, { "uniprot_canonical_ac": "Q6IMY8-1", "uniprot_ac": "Q6IMY8", "uniprot_id": "HNRPU_RAT", "refseq_ac": "NP_476480", "glycoprotein": "yes", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "Heterogeneous nuclear ribonucleoprotein U", "resource": "UniProtKB", "type": "recommended" }, { "name": "SAF-A", "resource": "UniProtKB", "type": "synonym" }, { "name": "SP120", "resource": "UniProtKB", "type": "synonym" }, { "name": "Scaffold-attachment factor A", "resource": "UniProtKB", "type": "synonym" }, { "name": "heterogeneous nuclear ribonucleoprotein U", "resource": "RefSeq", "type": "synonym" }, { "name": "hnRNP U", "resource": "UniProtKB", "type": "synonym" }, { "name": "system N1 Na+ and H+-coupled glutamine transporter; transporter protein; transporter protein; system N1 Na+ and H+-coupled glutamine transporter; scaffold-attachment factor A", "resource": "RefSeq", "type": "synonym" } ], "gene_names": [ { "name": "Hnrnpu", "resource": "UniProtKB", "type": "recommended" }, { "name": "Hnrnpu", "resource": "RefSeq", "type": "synonym" }, { "name": "Hnrpu", "resource": "UniProtKB", "type": "synonym" }, { "name": "hnRNP U; Hnrpu; SAF-A; SN1; SP120", "resource": "RefSeq", "type": "synonym" }, { "name": "rCG_20317", "resource": "UniProtKB", "type": "synonym" } ], "evidence": [ { "id": "0080418", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0080418" } ] } ], "glycans": [], "biomarkers": [], "association_flag": "1000", "record_id": "doid.0080418" }