{ "disease_id": "DOID:0050881", "recommended_name": { "id": "DOID:0050881", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050881", "name": "inclusion body myopathy with Paget disease of bone and frontotemporal dementia", "description": "A syndrome that is characterized by progressive proximal muscle weakness, steolytic bone lesions consistent with Paget disease, and frontotemporal dementia and has_material_basis_in mutation in the valosin containing protein." }, "synonyms": [ { "id": "DOID:0050881", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050881", "name": "IBMPFD", "description": "" }, { "id": "DOID:0050881", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050881", "name": "inclusion body myopathy with Paget's disease of bone and frontotemporal dementia", "description": "" }, { "id": "MONDO:0008178", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008178", "name": "inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1", "description": "A rare autosomal dominant inherited disorder caused by mutations in the VCP gene. It can affect the muscles, bones, and brain. Patients may develop myopathy that initially involves the muscles of the hips and shoulders and as the disorder progresses it may affect the cardiac and respiratory muscles, leading to life-threatening cardiac and pulmonary failure. Approximately half of the adults develop Paget disease of bone, and approximately one-third develop frontotemporal dementia." }, { "id": "MONDO:0008178", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008178", "name": "inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia type 1", "description": "" }, { "id": "MONDO:0008178", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008178", "name": "inclusion body myopathy with early-onset paget disease and frontotemporal dementia 1", "description": "" }, { "id": "MONDO:0008178", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008178", "name": "IBMPFD1", "description": "" }, { "id": "MONDO:0008178", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008178", "name": "inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 1", "description": "" }, { "id": "MIM:167320", "resource": "MIM", "url": "https://www.omim.org/entry/167320", "name": "Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 1", "description": "Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 1" } ], "children": [ { "id": "DOID:0081121", "label": "inclusion body myopathy and brain white matter abnormalities", "link_status": true, "children": [] }, { "id": "DOID:0111384", "label": "inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 2", "link_status": true, "children": [] }, { "id": "DOID:0111385", "label": "inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 1", "link_status": true, "children": [] }, { "id": "DOID:0111386", "label": "inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 3", "link_status": true, "children": [] } ], "id_list": [ "DOID:0111384", "DOID:0050881", "DOID:0081121", "DOID:0111386", "DOID:0111385" ], "unlinked_id_list": [], "crossref": [ { "id": "DOID:0050881", "database": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050881", "categories": [] }, { "id": "MONDO:0008178", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008178", "categories": [] }, { "id": "MIM:167320", "database": "MIM", "url": "https://www.omim.org/entry/167320", "categories": [] } ], "proteins": [ { "uniprot_canonical_ac": "A0A8M1PGI6-1", "uniprot_ac": "A0A8M1PGI6", "uniprot_id": "A0A8M1PGI6_DANRE", "refseq_ac": "NP_956398", "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 A1b", "type": "synonym" }, { "name": "heterogeneous nuclear ribonucleoprotein A1b", "type": "synonym" }, { "name": "heterogeneous nuclear ribonucleoprotein A1", "type": "synonym" } ], "gene_names": [ { "name": "hnrnpa1b", "type": "recommended" }, { "name": "hnrnpa1b", "type": "synonym" }, { "name": "hnrnpa1", "type": "synonym" }, { "name": "hnrpa1", "type": "synonym" } ], "record_id": "A0A8M1PGI6-1", "evidence": [ { "id": "0050881", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050881" } ] }, { "uniprot_canonical_ac": "A0A8M9QHJ0-1", "uniprot_ac": "A0A8M9QHJ0", "uniprot_id": "A0A8M9QHJ0_DANRE", "refseq_ac": "NP_001428354", "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 A1a isoform X1", "type": "synonym" }, { "name": "heterogeneous nuclear ribonucleoprotein A1a isoform 2", "type": "synonym" } ], "gene_names": [ { "name": "hnrnpa1a", "type": "recommended" }, { "name": "hnrnpa1a", "type": "synonym" }, { "name": "zgc:66127", "type": "synonym" } ], "record_id": "A0A8M9QHJ0-1", "evidence": [ { "id": "0050881", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050881" } ] }, { "uniprot_canonical_ac": "A0A8M1P4F7-1", "uniprot_ac": "A0A8M1P4F7", "uniprot_id": "A0A8M1P4F7_DANRE", "refseq_ac": "NP_001315077", "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 A3", "type": "synonym" }, { "name": "heterogeneous nuclear ribonucleoprotein A3", "type": "synonym" }, { "name": "hnrpa3", "type": "synonym" } ], "gene_names": [ { "name": "hnrnpa3", "type": "recommended" }, { "name": "hnrnpa3", "type": "synonym" }, { "name": "zgc:153703", "type": "synonym" } ], "record_id": "A0A8M1P4F7-1", "evidence": [ { "id": "0050881", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050881" } ] }, { "uniprot_canonical_ac": "Q7ZU99-1", "uniprot_ac": "Q7ZU99", "uniprot_id": "TERA_DANRE", "refseq_ac": "NP_958889", "glycoprotein": "yes", "species": [ { "name": "Danio rerio", "taxid": 7955, "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "protein_names": [ { "name": "Transitional endoplasmic reticulum ATPase", "type": "recommended" }, { "name": "3.6.4.6", "type": "synonym" }, { "name": "Protein CDC48", "type": "synonym" }, { "name": "TER ATPase", "type": "synonym" }, { "name": "VCP", "type": "synonym" }, { "name": "Valosin-containing protein", "type": "synonym" }, { "name": "protein CDC48", "type": "synonym" }, { "name": "transitional endoplasmic reticulum ATPase", "type": "synonym" } ], "gene_names": [ { "name": "vcp", "type": "recommended" }, { "name": "CDC48", "type": "synonym" }, { "name": "cdc48", "type": "synonym" }, { "name": "si:ch211-113n10.2", "type": "synonym" }, { "name": "vcp", "type": "synonym" }, { "name": "wu:fd16d05", "type": "synonym" }, { "name": "wu:fj63d11", "type": "synonym" } ], "record_id": "Q7ZU99-1", "evidence": [ { "id": "0050881", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050881" } ] }, { "uniprot_canonical_ac": "A0AB13A7B8-1", "uniprot_ac": "A0AB13A7B8", "uniprot_id": "A0AB13A7B8_DANRE", "refseq_ac": "NP_001352456", "glycoprotein": "no", "species": [ { "name": "Danio rerio", "taxid": 7955, "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "protein_names": [ { "name": "Pro-epidermal growth factor", "type": "recommended" }, { "name": "pro-epidermal growth factor isoform 1 precursor", "type": "synonym" } ], "gene_names": [ { "name": "egf", "type": "recommended" }, { "name": "egf", "type": "synonym" }, { "name": "sb:eu639", "type": "synonym" } ], "record_id": "A0AB13A7B8-1", "evidence": [ { "id": "0050881", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050881" } ] }, { "uniprot_canonical_ac": "Q4W898-1", "uniprot_ac": "Q4W898", "uniprot_id": "Q4W898_DANRE", "refseq_ac": "NP_001019618", "glycoprotein": "no", "species": [ { "name": "Danio rerio", "taxid": 7955, "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "protein_names": [ { "name": "Lymphotoxin-alpha", "type": "recommended" }, { "name": "TNF alpha", "type": "synonym" }, { "name": "TNF-alpha 2", "type": "synonym" }, { "name": "TNF-alpha", "type": "synonym" }, { "name": "TNF-beta", "type": "synonym" }, { "name": "TNF2", "type": "synonym" }, { "name": "Tumor necrosis factor ligand superfamily member 1", "type": "synonym" }, { "name": "Tumor necrosis factor", "type": "synonym" }, { "name": "lta", "type": "synonym" }, { "name": "tumor necrosis factor (TNF superfamily, member 2)", "type": "synonym" }, { "name": "tumor necrosis factor alpha", "type": "synonym" }, { "name": "tumor necrosis factor b (TNF superfamily, member 2)", "type": "synonym" } ], "gene_names": [ { "name": "tnfb", "type": "recommended" }, { "name": "Tnf-alpha", "type": "synonym" }, { "name": "tnfa-like", "type": "synonym" }, { "name": "tnfb", "type": "synonym" }, { "name": "tnf", "type": "synonym" } ], "record_id": "Q4W898-1", "evidence": [ { "id": "0050881", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050881" } ] }, { "uniprot_canonical_ac": "Q01853-1", "uniprot_ac": "Q01853", "uniprot_id": "TERA_MOUSE", "refseq_ac": "NP_033529", "glycoprotein": "yes", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Transitional endoplasmic reticulum ATPase", "type": "recommended" }, { "name": "15S Mg(2+)-ATPase p97 subunit", "type": "synonym" }, { "name": "3.6.4.6", "type": "synonym" }, { "name": "AAA ATPase p97", "type": "synonym" }, { "name": "Inv protein", "type": "synonym" }, { "name": "TER ATPase", "type": "synonym" }, { "name": "VCP", "type": "synonym" }, { "name": "Valosin-containing protein", "type": "synonym" }, { "name": "homolog of yeast cdc48", "type": "synonym" }, { "name": "transitional endoplasmic reticulum ATPase", "type": "synonym" } ], "gene_names": [ { "name": "Vcp", "type": "recommended" }, { "name": "3110001E05", "type": "synonym" }, { "name": "CDC48", "type": "synonym" }, { "name": "Vcp", "type": "synonym" }, { "name": "p97/VCP", "type": "synonym" }, { "name": "p97", "type": "synonym" } ], "record_id": "Q01853-1", "evidence": [ { "id": "0050881", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050881" } ] }, { "uniprot_canonical_ac": "O88569-1", "uniprot_ac": "O88569", "uniprot_id": "ROA2_MOUSE", "refseq_ac": "NP_058086", "glycoprotein": "yes", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Heterogeneous nuclear ribonucleoproteins A2/B1", "type": "recommended" }, { "name": "heterogeneous nuclear ribonucleoproteins A2/B1 isoform 1", "type": "synonym" }, { "name": "heterogeneous nuclear ribonucleoproteins A2/B1", "type": "synonym" }, { "name": "heterogenous nuclear ribonucleoprotein A2/B1", "type": "synonym" }, { "name": "hnRNP A2/B1", "type": "synonym" } ], "gene_names": [ { "name": "Hnrnpa2b1", "type": "recommended" }, { "name": "9130414A06Rik", "type": "synonym" }, { "name": "Hnrnpa2b1", "type": "synonym" }, { "name": "Hnrpa2b1", "type": "synonym" }, { "name": "Hnrpa2", "type": "synonym" }, { "name": "hnrnp-A", "type": "synonym" } ], "record_id": "O88569-1", "evidence": [ { "id": "0050881", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050881" } ] }, { "uniprot_canonical_ac": "P49312-1", "uniprot_ac": "P49312", "uniprot_id": "ROA1_MOUSE", "refseq_ac": "NP_034577", "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 A1", "type": "recommended" }, { "name": "HDP-1", "type": "synonym" }, { "name": "Helix-destabilizing protein", "type": "synonym" }, { "name": "Single-strand-binding protein", "type": "synonym" }, { "name": "Topoisomerase-inhibitor suppressed", "type": "synonym" }, { "name": "helix-destabilizing protein", "type": "synonym" }, { "name": "heterogeneous nuclear ribonucleoprotein A1 isoform a", "type": "synonym" }, { "name": "hnRNP A1", "type": "synonym" }, { "name": "hnRNP core protein A1", "type": "synonym" }, { "name": "single-strand-binding protein", "type": "synonym" }, { "name": "topoisomerase-inhibitor suppressed", "type": "synonym" } ], "gene_names": [ { "name": "Hnrnpa1", "type": "recommended" }, { "name": "Fli-2", "type": "synonym" }, { "name": "HDP-1", "type": "synonym" }, { "name": "Hdp", "type": "synonym" }, { "name": "Hnrnpa1", "type": "synonym" }, { "name": "Hnrpa1", "type": "synonym" }, { "name": "Tis", "type": "synonym" }, { "name": "hnRNP A1", "type": "synonym" }, { "name": "hnrnp-A1", "type": "synonym" } ], "record_id": "P49312-1", "evidence": [ { "id": "0050881", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050881" } ] }, { "uniprot_canonical_ac": "Q8BG05-1", "uniprot_ac": "Q8BG05", "uniprot_id": "ROA3_MOUSE", "refseq_ac": "NP_444493", "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 A3", "type": "recommended" }, { "name": "heterogeneous nuclear ribonucleoprotein A3 isoform c", "type": "synonym" }, { "name": "hnRNP A3", "type": "synonym" } ], "gene_names": [ { "name": "Hnrnpa3", "type": "recommended" }, { "name": "2410013L13Rik", "type": "synonym" }, { "name": "2610209F03Rik", "type": "synonym" }, { "name": "2610510D13Rik", "type": "synonym" }, { "name": "Hnrnpa3", "type": "synonym" }, { "name": "Hnrpa3", "type": "synonym" } ], "record_id": "Q8BG05-1", "evidence": [ { "id": "0050881", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050881" } ] }, { "uniprot_canonical_ac": "P62196-1", "uniprot_ac": "P62196", "uniprot_id": "PRS8_MOUSE", "refseq_ac": "NP_032976", "glycoprotein": "yes", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "26S proteasome regulatory subunit 8", "type": "recommended" }, { "name": "26S protease regulatory subunit 8", "type": "synonym" }, { "name": "26S proteasome AAA-ATPase subunit RPT6", "type": "synonym" }, { "name": "26S proteasome regulatory subunit 8", "type": "synonym" }, { "name": "Proteasome 26S subunit ATPase 5", "type": "synonym" }, { "name": "Proteasome subunit p45", "type": "synonym" }, { "name": "mSUG1", "type": "synonym" }, { "name": "p45/SUG", "type": "synonym" }, { "name": "proteasome 26S subunit ATPase 5", "type": "synonym" }, { "name": "proteasome subunit p45", "type": "synonym" } ], "gene_names": [ { "name": "Psmc5", "type": "recommended" }, { "name": "Psmc5", "type": "synonym" }, { "name": "Rpt6", "type": "synonym" }, { "name": "Sug1", "type": "synonym" }, { "name": "mSUG1", "type": "synonym" } ], "record_id": "P62196-1", "evidence": [ { "id": "0050881", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050881" } ] }, { "uniprot_canonical_ac": "P01132-1", "uniprot_ac": "P01132", "uniprot_id": "EGF_MOUSE", "refseq_ac": "NP_034243", "glycoprotein": "yes", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Pro-epidermal growth factor", "type": "recommended" }, { "name": "EGF", "type": "synonym" }, { "name": "Pro-epidermal growth factor precursor (EGF)", "type": "synonym" }, { "name": "pro-epidermal growth factor isoform 1 preproprotein", "type": "synonym" } ], "gene_names": [ { "name": "Egf", "type": "recommended" }, { "name": "Egf", "type": "synonym" } ], "record_id": "P01132-1", "evidence": [ { "id": "0050881", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050881" } ] }, { "uniprot_canonical_ac": "P06804-1", "uniprot_ac": "P06804", "uniprot_id": "TNFA_MOUSE", "refseq_ac": "NP_001265530", "glycoprotein": "yes", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Tumor necrosis factor", "type": "recommended" }, { "name": "Cachectin", "type": "synonym" }, { "name": "N-terminal fragment", "type": "synonym" }, { "name": "NTF", "type": "synonym" }, { "name": "TNF-alpha", "type": "synonym" }, { "name": "TNF-a", "type": "synonym" }, { "name": "Tumor necrosis factor ligand superfamily member 2", "type": "synonym" }, { "name": "cachectin", "type": "synonym" }, { "name": "tumor necrosis factor isoform 2", "type": "synonym" }, { "name": "tumor necrosis factor ligand 1f", "type": "synonym" }, { "name": "tumor necrosis factor ligand superfamily member 2", "type": "synonym" }, { "name": "tumor necrosis factor-alpha", "type": "synonym" } ], "gene_names": [ { "name": "Tnf", "type": "recommended" }, { "name": "DIF", "type": "synonym" }, { "name": "TNF-alpha", "type": "synonym" }, { "name": "TNF-a", "type": "synonym" }, { "name": "TNFSF2", "type": "synonym" }, { "name": "TNFalpha", "type": "synonym" }, { "name": "Tnfa", "type": "synonym" }, { "name": "Tnfsf1a", "type": "synonym" }, { "name": "Tnfsf2", "type": "synonym" }, { "name": "Tnf", "type": "synonym" }, { "name": "Tnlg1f", "type": "synonym" } ], "record_id": "P06804-1", "evidence": [ { "id": "0050881", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050881" } ] }, { "uniprot_canonical_ac": "P55072-1", "uniprot_ac": "P55072", "uniprot_id": "TERA_HUMAN", "refseq_ac": "NP_009057", "glycoprotein": "yes", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "Transitional endoplasmic reticulum ATPase", "type": "recommended" }, { "name": "15S Mg(2+)-ATPase p97 subunit", "type": "synonym" }, { "name": "3.6.4.6", "type": "synonym" }, { "name": "TER ATPase", "type": "synonym" }, { "name": "VCP", "type": "synonym" }, { "name": "Valosin-containing protein", "type": "synonym" }, { "name": "transitional endoplasmic reticulum ATPase isoform 1", "type": "synonym" }, { "name": "transitional endoplasmic reticulum ATPase", "type": "synonym" } ], "gene_names": [ { "name": "VCP", "type": "recommended" }, { "name": "CDC48", "type": "synonym" }, { "name": "FTDALS6", "type": "synonym" }, { "name": "HEL-220", "type": "synonym" }, { "name": "HEL-S-70", "type": "synonym" }, { "name": "TERA", "type": "synonym" }, { "name": "VCP", "type": "synonym" }, { "name": "p97", "type": "synonym" } ], "record_id": "P55072-1", "evidence": [ { "id": "167320", "database": "MIM", "url": "https://www.omim.org/entry/167320" }, { "id": "0050881", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050881" } ] }, { "uniprot_canonical_ac": "Q01939-1", "uniprot_ac": "Q01939", "uniprot_id": "PRS8_YEAST", "refseq_ac": "NP_011467", "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": "26S proteasome regulatory subunit 8 homolog", "type": "recommended" }, { "name": "Protein CIM3", "type": "synonym" }, { "name": "Protein SUG1", "type": "synonym" }, { "name": "Tat-binding protein TBY1", "type": "synonym" }, { "name": "proteasome regulatory particle base subunit RPT6", "type": "synonym" } ], "gene_names": [ { "name": "RPT6", "type": "recommended" }, { "name": "CIM3", "type": "synonym" }, { "name": "CRL3", "type": "synonym" }, { "name": "RPT6", "type": "synonym" }, { "name": "SCB68", "type": "synonym" }, { "name": "SUG1", "type": "synonym" }, { "name": "TBPY", "type": "synonym" }, { "name": "TBY1", "type": "synonym" } ], "record_id": "Q01939-1", "evidence": [ { "id": "0050881", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050881" } ] }, { "uniprot_canonical_ac": "P25694-1", "uniprot_ac": "P25694", "uniprot_id": "CDC48_YEAST", "refseq_ac": "NP_010157", "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": "AAA family ATPase involved in ubiquitin-mediated protein degradation CDC48", "type": "recommended" }, { "name": "3.6.4.6", "type": "synonym" }, { "name": "AAA family ATPase CDC48", "type": "synonym" }, { "name": "Cell division control protein 48", "type": "synonym" }, { "name": "Cell division cycle protein 48", "type": "synonym" }, { "name": "Transitional endoplasmic reticulum ATPase homolog", "type": "synonym" } ], "gene_names": [ { "name": "CDC48", "type": "recommended" }, { "name": "CDC48", "type": "synonym" } ], "record_id": "P25694-1", "evidence": [ { "id": "0050881", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050881" } ] }, { "uniprot_canonical_ac": "P53883-1", "uniprot_ac": "P53883", "uniprot_id": "NOP13_YEAST", "refseq_ac": "NP_014224", "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": "Nucleolar protein 13", "type": "recommended" }, { "name": "Nop13p", "type": "synonym" } ], "gene_names": [ { "name": "NOP13", "type": "recommended" }, { "name": "N1665", "type": "synonym" }, { "name": "NOP13", "type": "synonym" } ], "record_id": "P53883-1", "evidence": [ { "id": "0050881", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050881" } ] }, { "uniprot_canonical_ac": "A7VJC2-1", "uniprot_ac": "A7VJC2", "uniprot_id": "ROA2_RAT", "refseq_ac": "NP_001098083", "glycoprotein": "yes", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "Heterogeneous nuclear ribonucleoproteins A2/B1", "type": "recommended" }, { "name": "heterogeneous nuclear ribonucleoprotein A2", "type": "synonym" }, { "name": "heterogeneous nuclear ribonucleoprotein B0a", "type": "synonym" }, { "name": "heterogeneous nuclear ribonucleoprotein B0b", "type": "synonym" }, { "name": "heterogeneous nuclear ribonucleoprotein B1", "type": "synonym" }, { "name": "heterogeneous nuclear ribonucleoproteins A2/B1", "type": "synonym" }, { "name": "hnRNP A2 / hnRNP B1", "type": "synonym" }, { "name": "hnRNP A2/B1", "type": "synonym" }, { "name": "nuclear ribonucleoprotein particle A2 protein", "type": "synonym" } ], "gene_names": [ { "name": "Hnrnpa2b1", "type": "recommended" }, { "name": "Hnrnpa2b1", "type": "synonym" }, { "name": "Hnrnp", "type": "synonym" }, { "name": "Hnrpa2b1", "type": "synonym" }, { "name": "Hnrpa2", "type": "synonym" }, { "name": "hnRNP", "type": "synonym" } ], "record_id": "A7VJC2-1", "evidence": [ { "id": "0050881", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050881" } ] }, { "uniprot_canonical_ac": "Q6URK4-1", "uniprot_ac": "Q6URK4", "uniprot_id": "ROA3_RAT", "refseq_ac": "NP_001104764", "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 A3", "type": "recommended" }, { "name": "heterogeneous nuclear ribonucleoprotein A3 isoform a", "type": "synonym" }, { "name": "hnRNP A3", "type": "synonym" } ], "gene_names": [ { "name": "Hnrnpa3", "type": "recommended" }, { "name": "LOC100911361", "type": "recommended" }, { "name": "LOC120096281", "type": "recommended" }, { "name": "Hnrnpa3", "type": "synonym" }, { "name": "Hnrpa3", "type": "synonym" }, { "name": "LOC120096281", "type": "synonym" }, { "name": "mBx", "type": "synonym" } ], "record_id": "Q6URK4-1", "evidence": [ { "id": "0050881", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050881" } ] }, { "uniprot_canonical_ac": "P04256-1", "uniprot_ac": "P04256", "uniprot_id": "ROA1_RAT", "refseq_ac": "NP_058944", "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 A1", "type": "recommended" }, { "name": "HDP", "type": "synonym" }, { "name": "Helix-destabilizing protein", "type": "synonym" }, { "name": "Single-strand RNA-binding protein", "type": "synonym" }, { "name": "helix-destabilizing protein", "type": "synonym" }, { "name": "heterogeneous nuclear ribonucleoprotein A1 isoform 2", "type": "synonym" }, { "name": "hnRNP A1", "type": "synonym" }, { "name": "hnRNP core protein A1", "type": "synonym" }, { "name": "single-strand RNA-binding protein", "type": "synonym" } ], "gene_names": [ { "name": "Hnrnpa1", "type": "recommended" }, { "name": "Hnrnpa1", "type": "synonym" }, { "name": "Hnrpa1", "type": "synonym" }, { "name": "hnRNP A1", "type": "synonym" } ], "record_id": "P04256-1", "evidence": [ { "id": "0050881", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050881" } ] }, { "uniprot_canonical_ac": "A0A8I6GJN1-1", "uniprot_ac": "A0A8I6GJN1", "uniprot_id": "A0A8I6GJN1_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": "Heterogeneous nuclear ribonucleoprotein A1", "type": "recommended" }, { "name": "Helix-destabilizing protein", "type": "synonym" }, { "name": "hnRNP core protein A1", "type": "synonym" } ], "gene_names": [ { "name": "Hnrnpa1-ps20", "type": "recommended" } ], "record_id": "A0A8I6GJN1-1", "evidence": [ { "id": "0050881", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050881" } ] }, { "uniprot_canonical_ac": "P46462-1", "uniprot_ac": "P46462", "uniprot_id": "TERA_RAT", "refseq_ac": "NP_446316", "glycoprotein": "yes", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "Transitional endoplasmic reticulum ATPase", "type": "recommended" }, { "name": "15S Mg(2+)-ATPase p97 subunit", "type": "synonym" }, { "name": "3.6.4.6", "type": "synonym" }, { "name": "TER ATPase", "type": "synonym" }, { "name": "VCP", "type": "synonym" }, { "name": "Valosin-containing protein", "type": "synonym" }, { "name": "transitional endoplasmic reticulum ATPase", "type": "synonym" } ], "gene_names": [ { "name": "Vcp", "type": "recommended" }, { "name": "Vcp", "type": "synonym" } ], "record_id": "P46462-1", "evidence": [ { "id": "0050881", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050881" } ] }, { "uniprot_canonical_ac": "P62198-1", "uniprot_ac": "P62198", "uniprot_id": "PRS8_RAT", "refseq_ac": "NP_112411", "glycoprotein": "no", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "26S proteasome regulatory subunit 8", "type": "recommended" }, { "name": "26S protease regulatory subunit 8", "type": "synonym" }, { "name": "26S proteasome AAA-ATPase subunit RPT6", "type": "synonym" }, { "name": "26S proteasome regulatory subunit 8", "type": "synonym" }, { "name": "Proteasome 26S subunit ATPase 5", "type": "synonym" }, { "name": "Proteasome subunit p45", "type": "synonym" }, { "name": "TRIP1", "type": "synonym" }, { "name": "Thyroid hormone receptor-interacting protein 1", "type": "synonym" }, { "name": "for proteasomal ATPase (SUG1)", "type": "synonym" }, { "name": "p45/SUG", "type": "synonym" }, { "name": "peptidase (prosome, macropain) 26S subunit, ATPase 5", "type": "synonym" }, { "name": "protease (prosome, macropain) 26S subunit, ATPase 5", "type": "synonym" }, { "name": "proteasomal ATPase (SUG1)", "type": "synonym" }, { "name": "proteasome (prosome, macropain) 26S subunit, ATPase, 5", "type": "synonym" }, { "name": "proteasome p45/SUG", "type": "synonym" }, { "name": "proteasome subunit p45", "type": "synonym" }, { "name": "thyroid hormone receptor-interacting protein 1", "type": "synonym" } ], "gene_names": [ { "name": "Psmc5", "type": "recommended" }, { "name": "Psmc5", "type": "synonym" }, { "name": "Sug1", "type": "synonym" } ], "record_id": "P62198-1", "evidence": [ { "id": "0050881", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050881" } ] }, { "uniprot_canonical_ac": "P07522-1", "uniprot_ac": "P07522", "uniprot_id": "EGF_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": "Pro-epidermal growth factor", "type": "recommended" }, { "name": "EGF", "type": "synonym" } ], "gene_names": [ { "name": "Egf", "type": "recommended" }, { "name": "LOC100910178", "type": "synonym" } ], "record_id": "P07522-1", "evidence": [ { "id": "0050881", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050881" } ] }, { "uniprot_canonical_ac": "P16599-1", "uniprot_ac": "P16599", "uniprot_id": "TNFA_RAT", "refseq_ac": "NP_036807", "glycoprotein": "yes", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "Tumor necrosis factor", "type": "recommended" }, { "name": "Cachectin", "type": "synonym" }, { "name": "N-terminal fragment", "type": "synonym" }, { "name": "NTF", "type": "synonym" }, { "name": "TNF-alpha", "type": "synonym" }, { "name": "TNF-a", "type": "synonym" }, { "name": "Tumor necrosis factor ligand superfamily member 2", "type": "synonym" }, { "name": "cachectin", "type": "synonym" }, { "name": "tumor necrosis factor (TNF superfamily, member 2)", "type": "synonym" }, { "name": "tumor necrosis factor ligand superfamily member 2", "type": "synonym" }, { "name": "tumor necrosis factor", "type": "synonym" } ], "gene_names": [ { "name": "Tnf", "type": "recommended" }, { "name": "RATTNF", "type": "synonym" }, { "name": "TNF-alpha", "type": "synonym" }, { "name": "Tnfa", "type": "synonym" }, { "name": "Tnfsf2", "type": "synonym" }, { "name": "Tnf", "type": "synonym" } ], "record_id": "P16599-1", "evidence": [ { "id": "0050881", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050881" } ] }, { "uniprot_canonical_ac": "Q6AYX5-1", "uniprot_ac": "Q6AYX5", "uniprot_id": "ODFP2_RAT", "refseq_ac": "NP_001138477", "glycoprotein": "no", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "Outer dense fiber protein 2", "type": "recommended" }, { "name": "84 kDa outer dense fiber protein", "type": "synonym" }, { "name": "Cenexin", "type": "synonym" }, { "name": "Outer dense fiber of sperm tails protein 2", "type": "synonym" }, { "name": "cenexin", "type": "synonym" }, { "name": "outer dense fiber of sperm tail 2", "type": "synonym" }, { "name": "outer dense fiber of sperm tails protein 2", "type": "synonym" }, { "name": "outer dense fiber protein 2 isoform 1", "type": "synonym" }, { "name": "outer dense fiber protein 2", "type": "synonym" }, { "name": "sperm outer dense fiber major protein 2", "type": "synonym" }, { "name": "testis-specific autoantigen", "type": "synonym" } ], "gene_names": [ { "name": "Odf2", "type": "recommended" }, { "name": "KKT4", "type": "synonym" }, { "name": "Odf2", "type": "synonym" }, { "name": "Odf84", "type": "synonym" } ], "record_id": "Q6AYX5-1", "evidence": [ { "id": "0050881", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050881" } ] }, { "uniprot_canonical_ac": "P07909-1", "uniprot_ac": "P07909", "uniprot_id": "ROA1_DROME", "refseq_ac": "NP_524543", "glycoprotein": "no", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "Heterogeneous nuclear ribonucleoprotein A1", "type": "recommended" }, { "name": "CG9983-PB", "type": "synonym" }, { "name": "Hrb98DE-PB", "type": "synonym" }, { "name": "PEN repeat clone P9", "type": "synonym" }, { "name": "heterogeneous nuclear ribonucleoprotein at 98DE, isoform B", "type": "synonym" }, { "name": "hnRNA-binding protein 1", "type": "synonym" }, { "name": "hnRNP A1", "type": "synonym" }, { "name": "hnRNP core protein A1-A", "type": "synonym" }, { "name": "s", "type": "synonym" } ], "gene_names": [ { "name": "Hrb98DE", "type": "recommended" }, { "name": "B1", "type": "synonym" }, { "name": "CG9983", "type": "synonym" }, { "name": "Dmel\\CG9983", "type": "synonym" }, { "name": "Dmel_CG9983", "type": "synonym" }, { "name": "E7Delta6", "type": "synonym" }, { "name": "HDP(P9)", "type": "synonym" }, { "name": "HRB98DE/hrp38", "type": "synonym" }, { "name": "HRB98DE", "type": "synonym" }, { "name": "Hrb1", "type": "synonym" }, { "name": "Hrb98 de", "type": "synonym" }, { "name": "Hrb98DE/Hrp38", "type": "synonym" }, { "name": "Hrb98DE", "type": "synonym" }, { "name": "Hrp38", "type": "synonym" }, { "name": "Pen9", "type": "synonym" }, { "name": "anon-E7Delta6", "type": "synonym" }, { "name": "hnRNP A2/B1", "type": "synonym" }, { "name": "hrb98 de", "type": "synonym" }, { "name": "hrb98DE", "type": "synonym" }, { "name": "hrb98de", "type": "synonym" }, { "name": "hrp38", "type": "synonym" }, { "name": "p9", "type": "synonym" } ], "record_id": "P07909-1", "evidence": [ { "id": "0050881", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050881" } ] }, { "uniprot_canonical_ac": "P48810-1", "uniprot_ac": "P48810", "uniprot_id": "RB87F_DROME", "refseq_ac": "NP_001163602", "glycoprotein": "no", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "Heterogeneous nuclear ribonucleoprotein 87F", "type": "recommended" }, { "name": "CG12749-PC", "type": "synonym" }, { "name": "HRP36.1 protein", "type": "synonym" }, { "name": "Hrb87F-PC", "type": "synonym" }, { "name": "Protein P11", "type": "synonym" }, { "name": "heterogeneous nuclear ribonucleoprotein at 85CD", "type": "synonym" }, { "name": "heterogeneous nuclear ribonucleoprotein at 87F, isoform C", "type": "synonym" }, { "name": "hnRNA-binding protein 2", "type": "synonym" } ], "gene_names": [ { "name": "Hrb87F", "type": "recommended" }, { "name": "A2", "type": "synonym" }, { "name": "B1", "type": "synonym" }, { "name": "CG12749", "type": "synonym" }, { "name": "Dmel\\CG12749", "type": "synonym" }, { "name": "Dmel_CG12749", "type": "synonym" }, { "name": "HRB87F/hrp36", "type": "synonym" }, { "name": "HRB87F", "type": "synonym" }, { "name": "HRP36", "type": "synonym" }, { "name": "Hrb2", "type": "synonym" }, { "name": "Hrb85CD", "type": "synonym" }, { "name": "Hrb87Fa", "type": "synonym" }, { "name": "Hrb87F", "type": "synonym" }, { "name": "Hrb87f", "type": "synonym" }, { "name": "Hrp36", "type": "synonym" }, { "name": "P11/Hrb87F", "type": "synonym" }, { "name": "P11", "type": "synonym" }, { "name": "Q14", "type": "synonym" }, { "name": "Q16", "type": "synonym" }, { "name": "hnRNP A2/B1", "type": "synonym" }, { "name": "hnRNP36", "type": "synonym" }, { "name": "hnRNPA1/A2", "type": "synonym" }, { "name": "hnRNPA1", "type": "synonym" }, { "name": "hnRNPA2/B1", "type": "synonym" }, { "name": "hnRNPA2", "type": "synonym" }, { "name": "hrb87f", "type": "synonym" }, { "name": "hrp36", "type": "synonym" }, { "name": "p38", "type": "synonym" } ], "record_id": "P48810-1", "evidence": [ { "id": "0050881", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050881" } ] }, { "uniprot_canonical_ac": "Q7KN62-1", "uniprot_ac": "Q7KN62", "uniprot_id": "TERA_DROME", "refseq_ac": "NP_001097249", "glycoprotein": "yes", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "Transitional endoplasmic reticulum ATPase TER94", "type": "recommended" }, { "name": "3.6.4.6", "type": "synonym" }, { "name": "CG2331-PC", "type": "synonym" }, { "name": "TER94-PC", "type": "synonym" }, { "name": "TRANSITIONAL ENDOPLASMIC RETICULUM ATPASE TER94", "type": "synonym" }, { "name": "Ter94", "type": "synonym" }, { "name": "VCP", "type": "synonym" }, { "name": "Valosin-Containing protein", "type": "synonym" }, { "name": "Valosin-containing protein homolog", "type": "synonym" }, { "name": "complementation group I", "type": "synonym" }, { "name": "group VIII", "type": "synonym" }, { "name": "lethal (2) 46Db", "type": "synonym" }, { "name": "p97 ATPase", "type": "synonym" }, { "name": "p97", "type": "synonym" }, { "name": "transitional endoplasmic reticulum 94, isoform C", "type": "synonym" }, { "name": "transitional endoplasmic reticulum 94", "type": "synonym" }, { "name": "transitional endoplasmic reticulum ATPase", "type": "synonym" }, { "name": "valosin containing protein", "type": "synonym" } ], "gene_names": [ { "name": "TER94", "type": "recommended" }, { "name": "(VCP)/p97", "type": "synonym" }, { "name": "22.26", "type": "synonym" }, { "name": "7.12", "type": "synonym" }, { "name": "Apple", "type": "synonym" }, { "name": "BcDNA.GM02885", "type": "synonym" }, { "name": "BcDNA:GM02885", "type": "synonym" }, { "name": "CDC48", "type": "synonym" }, { "name": "CG2331", "type": "synonym" }, { "name": "DmTER94", "type": "synonym" }, { "name": "Dmel\\CG2331", "type": "synonym" }, { "name": "Dmel_CG2331", "type": "synonym" }, { "name": "I", "type": "synonym" }, { "name": "Q7KN62", "type": "synonym" }, { "name": "TER94", "type": "synonym" }, { "name": "Ter 94", "type": "synonym" }, { "name": "Ter94", "type": "synonym" }, { "name": "Tera", "type": "synonym" }, { "name": "VCP ATPase", "type": "synonym" }, { "name": "VCP/p97", "type": "synonym" }, { "name": "VCP1", "type": "synonym" }, { "name": "VCP", "type": "synonym" }, { "name": "VIII", "type": "synonym" }, { "name": "Vcp", "type": "synonym" }, { "name": "anon-WO2004063362.65", "type": "synonym" }, { "name": "anon-WO2004063362.67", "type": "synonym" }, { "name": "cdc48", "type": "synonym" }, { "name": "dTERA", "type": "synonym" }, { "name": "dVCP", "type": "synonym" }, { "name": "dmTERA", "type": "synonym" }, { "name": "dvcp", "type": "synonym" }, { "name": "l(2)03775", "type": "synonym" }, { "name": "l(2)46CFf", "type": "synonym" }, { "name": "l(2)46CFs", "type": "synonym" }, { "name": "l(2)46Ch", "type": "synonym" }, { "name": "l(2)46Db", "type": "synonym" }, { "name": "p97", "type": "synonym" }, { "name": "pTER94", "type": "synonym" }, { "name": "ter94", "type": "synonym" }, { "name": "vcp", "type": "synonym" } ], "record_id": "Q7KN62-1", "evidence": [ { "id": "0050881", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050881" } ] }, { "uniprot_canonical_ac": "Q9VA54-1", "uniprot_ac": "Q9VA54", "uniprot_id": "Q9VA54_DROME", "refseq_ac": "NP_651811", "glycoprotein": "no", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "26S proteasome regulatory subunit 8", "type": "recommended" }, { "name": "CG2241-PA", "type": "synonym" }, { "name": "Rpt6R-PA", "type": "synonym" }, { "name": "regulatory particle triple-A ATPase 6-related", "type": "synonym" } ], "gene_names": [ { "name": "Rpt6R", "type": "recommended" }, { "name": "CG2241", "type": "synonym" }, { "name": "DmCG2241", "type": "synonym" }, { "name": "Dm_Rpt6b", "type": "synonym" }, { "name": "Dmel\\CG2241", "type": "synonym" }, { "name": "Dmel_CG2241", "type": "synonym" }, { "name": "Rpt6R", "type": "synonym" }, { "name": "Rpt6b", "type": "synonym" }, { "name": "Rpt6", "type": "synonym" }, { "name": "S8", "type": "synonym" } ], "record_id": "Q9VA54-1", "evidence": [ { "id": "0050881", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050881" } ] }, { "uniprot_canonical_ac": "O18413-1", "uniprot_ac": "O18413", "uniprot_id": "PRS8_DROME", "refseq_ac": "NP_608447", "glycoprotein": "no", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "26S proteasome regulatory subunit 8", "type": "recommended" }, { "name": "26S proteasome regulatory subunit 8", "type": "synonym" }, { "name": "CG1489-PA", "type": "synonym" }, { "name": "Pros45", "type": "synonym" }, { "name": "Rpt6-PA", "type": "synonym" }, { "name": "p42C", "type": "synonym" }, { "name": "proteasomal subunit 8", "type": "synonym" }, { "name": "regulatory particle triple-A ATPase 6", "type": "synonym" } ], "gene_names": [ { "name": "Rpt6", "type": "recommended" }, { "name": "1489", "type": "synonym" }, { "name": "CG1489", "type": "synonym" }, { "name": "DUG", "type": "synonym" }, { "name": "Dm_Rpt6a", "type": "synonym" }, { "name": "Dmel\\CG1489", "type": "synonym" }, { "name": "Dug", "type": "synonym" }, { "name": "PRS8_DROME", "type": "synonym" }, { "name": "Pros45", "type": "synonym" }, { "name": "Rpt6", "type": "synonym" }, { "name": "S8", "type": "synonym" }, { "name": "Ug", "type": "synonym" }, { "name": "dRpt6", "type": "synonym" }, { "name": "p42C", "type": "synonym" }, { "name": "pros45", "type": "synonym" }, { "name": "sug-1", "type": "synonym" }, { "name": "sug1", "type": "synonym" } ], "record_id": "O18413-1", "evidence": [ { "id": "0050881", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050881" } ] }, { "uniprot_canonical_ac": "P43234-1", "uniprot_ac": "P43234", "uniprot_id": "CATO_HUMAN", "refseq_ac": "NP_001325", "glycoprotein": "yes", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "Cathepsin O", "type": "recommended" }, { "name": "3.4.22.42", "type": "synonym" }, { "name": "cathepsin O preproprotein", "type": "synonym" } ], "gene_names": [ { "name": "CTSO", "type": "recommended" }, { "name": "CTSO1", "type": "synonym" }, { "name": "CTSO", "type": "synonym" } ], "record_id": "P43234-1", "evidence": [ { "id": "0050881", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050881" } ] }, { "uniprot_canonical_ac": "P01375-1", "uniprot_ac": "P01375", "uniprot_id": "TNFA_HUMAN", "refseq_ac": "NP_000585", "glycoprotein": "yes", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "Tumor necrosis factor", "type": "recommended" }, { "name": "APC1 protein", "type": "synonym" }, { "name": "Cachectin", "type": "synonym" }, { "name": "N-terminal fragment", "type": "synonym" }, { "name": "NTF", "type": "synonym" }, { "name": "TNF, macrophage-derived", "type": "synonym" }, { "name": "TNF, monocyte-derived", "type": "synonym" }, { "name": "TNF-alpha", "type": "synonym" }, { "name": "TNF-a", "type": "synonym" }, { "name": "Tumor necrosis factor ligand superfamily member 2", "type": "synonym" }, { "name": "tumor necrosis factor ligand 1F", "type": "synonym" }, { "name": "tumor necrosis factor ligand superfamily member 2", "type": "synonym" }, { "name": "tumor necrosis factor-alpha", "type": "synonym" }, { "name": "tumor necrosis factor", "type": "synonym" }, { "name": "tumor necrotic factor alpha", "type": "synonym" } ], "gene_names": [ { "name": "TNF", "type": "recommended" }, { "name": "DIF", "type": "synonym" }, { "name": "IMD127", "type": "synonym" }, { "name": "TNF-alpha", "type": "synonym" }, { "name": "TNFA", "type": "synonym" }, { "name": "TNFSF2", "type": "synonym" }, { "name": "TNF", "type": "synonym" }, { "name": "TNLG1F", "type": "synonym" } ], "record_id": "P01375-1", "evidence": [ { "id": "0050881", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050881" } ] }, { "uniprot_canonical_ac": "P01133-1", "uniprot_ac": "P01133", "uniprot_id": "EGF_HUMAN", "refseq_ac": "NP_001171601", "glycoprotein": "yes", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "Pro-epidermal growth factor", "type": "recommended" }, { "name": "EGF", "type": "synonym" }, { "name": "Urogastrone", "type": "synonym" }, { "name": "beta-urogastrone", "type": "synonym" }, { "name": "pro-epidermal growth factor isoform 2 precursor", "type": "synonym" }, { "name": "pro-epidermal growth factor", "type": "synonym" } ], "gene_names": [ { "name": "EGF", "type": "recommended" }, { "name": "EGF", "type": "synonym" }, { "name": "HOMG4", "type": "synonym" }, { "name": "URG", "type": "synonym" } ], "record_id": "P01133-1", "evidence": [ { "id": "0050881", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050881" } ] }, { "uniprot_canonical_ac": "P22626-1", "uniprot_ac": "P22626", "uniprot_id": "ROA2_HUMAN", "refseq_ac": "NP_002128", "glycoprotein": "yes", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "Heterogeneous nuclear ribonucleoproteins A2/B1", "type": "recommended" }, { "name": "HNRNPA2B1/MYC fusion", "type": "synonym" }, { "name": "epididymis secretory sperm binding protein", "type": "synonym" }, { "name": "heterogeneous nuclear ribonucleoproteins A2/B1 isoform A2", "type": "synonym" }, { "name": "heterogeneous nuclear ribonucleoproteins A2/B1", "type": "synonym" }, { "name": "hnRNP A2 / hnRNP B1", "type": "synonym" }, { "name": "hnRNP A2/B1", "type": "synonym" }, { "name": "nuclear ribonucleoprotein particle A2 protein", "type": "synonym" } ], "gene_names": [ { "name": "HNRNPA2B1", "type": "recommended" }, { "name": "HNRNPA2B1", "type": "synonym" }, { "name": "HNRNPA2", "type": "synonym" }, { "name": "HNRNPB1", "type": "synonym" }, { "name": "HNRPA2B1", "type": "synonym" }, { "name": "HNRPA2", "type": "synonym" }, { "name": "HNRPB1", "type": "synonym" }, { "name": "IBMPFD2", "type": "synonym" }, { "name": "OPDM2", "type": "synonym" }, { "name": "OPMD2", "type": "synonym" }, { "name": "RNPA2", "type": "synonym" }, { "name": "SNRPB1", "type": "synonym" } ], "record_id": "P22626-1", "evidence": [ { "id": "0050881", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050881" } ] }, { "uniprot_canonical_ac": "Q32P51-1", "uniprot_ac": "Q32P51", "uniprot_id": "RA1L2_HUMAN", "refseq_ac": "NP_001011724", "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 A1-like 2", "type": "recommended" }, { "name": "heterogeneous nuclear ribonucleoprotein A1-like 2", "type": "synonym" }, { "name": "hnRNP A1-like 2", "type": "synonym" }, { "name": "hnRNP core protein A1-like 2", "type": "synonym" } ], "gene_names": [ { "name": "HNRNPA1L2", "type": "recommended" }, { "name": "HNRNPA1L2", "type": "synonym" }, { "name": "HNRNPA1L", "type": "synonym" } ], "record_id": "Q32P51-1", "evidence": [ { "id": "0050881", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050881" } ] }, { "uniprot_canonical_ac": "P09651-1", "uniprot_ac": "P09651", "uniprot_id": "ROA1_HUMAN", "refseq_ac": "NP_002127", "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 A1", "type": "recommended" }, { "name": "Helix-destabilizing protein", "type": "synonym" }, { "name": "Single-strand RNA-binding protein", "type": "synonym" }, { "name": "epididymis secretory sperm binding protein", "type": "synonym" }, { "name": "helix-destabilizing protein", "type": "synonym" }, { "name": "heterogeneous nuclear ribonucleoprotein A1 isoform a", "type": "synonym" }, { "name": "heterogeneous nuclear ribonucleoprotein A1B protein", "type": "synonym" }, { "name": "heterogeneous nuclear ribonucleoprotein B2 protein", "type": "synonym" }, { "name": "heterogeneous nuclear ribonucleoprotein core protein A1", "type": "synonym" }, { "name": "hnRNP A1", "type": "synonym" }, { "name": "hnRNP core protein A1-like 3", "type": "synonym" }, { "name": "hnRNP core protein A1", "type": "synonym" }, { "name": "nuclear ribonucleoprotein particle A1 protein", "type": "synonym" }, { "name": "putative heterogeneous nuclear ribonucleoprotein A1-like 3", "type": "synonym" }, { "name": "single-strand DNA-binding protein UP1", "type": "synonym" }, { "name": "single-strand RNA-binding protein", "type": "synonym" } ], "gene_names": [ { "name": "HNRNPA1", "type": "recommended" }, { "name": "ALS19", "type": "synonym" }, { "name": "ALS20", "type": "synonym" }, { "name": "HNRNPA1", "type": "synonym" }, { "name": "HNRPA1L3", "type": "synonym" }, { "name": "HNRPA1", "type": "synonym" }, { "name": "IBMPFD3", "type": "synonym" }, { "name": "MPD3", "type": "synonym" }, { "name": "UP 1", "type": "synonym" }, { "name": "hnRNP A1", "type": "synonym" }, { "name": "hnRNP-A1", "type": "synonym" } ], "record_id": "P09651-1", "evidence": [ { "id": "0050881", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050881" } ] }, { "uniprot_canonical_ac": "P51991-1", "uniprot_ac": "P51991", "uniprot_id": "ROA3_HUMAN", "refseq_ac": "NP_001317178", "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 A3", "type": "recommended" }, { "name": "epididymis secretory sperm binding protein", "type": "synonym" }, { "name": "heterogeneous nuclear ribonucleoprotein A3 isoform a", "type": "synonym" }, { "name": "hnRNP A3", "type": "synonym" } ], "gene_names": [ { "name": "HNRNPA3", "type": "recommended" }, { "name": "2610510D13Rik", "type": "synonym" }, { "name": "D10S102", "type": "synonym" }, { "name": "FBRNP", "type": "synonym" }, { "name": "HNRNPA3", "type": "synonym" }, { "name": "HNRPA3", "type": "synonym" } ], "record_id": "P51991-1", "evidence": [ { "id": "0050881", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050881" } ] }, { "uniprot_canonical_ac": "A0A2R8Y4L2-1", "uniprot_ac": "A0A2R8Y4L2", "uniprot_id": "RA1L3_HUMAN", "refseq_ac": "NP_001383170", "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 A1-like 3", "type": "recommended" }, { "name": "Heterogeneous nuclear ribonucleoprotein A1 pseudogene 48", "type": "synonym" }, { "name": "heterogeneous nuclear ribonucleoprotein A1 pseudogene 48", "type": "synonym" }, { "name": "heterogeneous nuclear ribonucleoprotein A1-like 3", "type": "synonym" } ], "gene_names": [ { "name": "HNRNPA1L3", "type": "recommended" }, { "name": "HNRNPA1L3", "type": "synonym" }, { "name": "HNRNPA1P48", "type": "synonym" } ], "record_id": "A0A2R8Y4L2-1", "evidence": [ { "id": "0050881", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050881" } ] }, { "uniprot_canonical_ac": "P62195-1", "uniprot_ac": "P62195", "uniprot_id": "PRS8_HUMAN", "refseq_ac": "NP_001186092", "glycoprotein": "yes", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "26S proteasome regulatory subunit 8", "type": "recommended" }, { "name": "26S protease regulatory subunit 8", "type": "synonym" }, { "name": "26S proteasome AAA-ATPase subunit RPT6", "type": "synonym" }, { "name": "26S proteasome regulatory subunit 8 isoform 2", "type": "synonym" }, { "name": "26S proteasome regulatory subunit 8", "type": "synonym" }, { "name": "MSUG1 protein", "type": "synonym" }, { "name": "Proteasome 26S subunit ATPase 5", "type": "synonym" }, { "name": "Proteasome subunit p45", "type": "synonym" }, { "name": "TRIP1", "type": "synonym" }, { "name": "Tat-binding protein homolog 10", "type": "synonym" }, { "name": "Thyroid hormone receptor-interacting protein 1", "type": "synonym" }, { "name": "p45/SUG", "type": "synonym" }, { "name": "proteasome (prosome, macropain) 26S subunit, ATPase, 5", "type": "synonym" }, { "name": "proteasome 26S ATPase subunit 5", "type": "synonym" }, { "name": "proteasome subunit p45", "type": "synonym" }, { "name": "testicular tissue protein Li 149", "type": "synonym" }, { "name": "thyroid hormone receptor-interacting protein 1", "type": "synonym" }, { "name": "thyroid receptor interactor 1", "type": "synonym" } ], "gene_names": [ { "name": "PSMC5", "type": "recommended" }, { "name": "PSMC5", "type": "synonym" }, { "name": "RPT6", "type": "synonym" }, { "name": "S8", "type": "synonym" }, { "name": "SUG-1", "type": "synonym" }, { "name": "SUG1", "type": "synonym" }, { "name": "TBP10", "type": "synonym" }, { "name": "TRIP1", "type": "synonym" }, { "name": "YKNS", "type": "synonym" }, { "name": "p45/SUG", "type": "synonym" }, { "name": "p45", "type": "synonym" } ], "record_id": "P62195-1", "evidence": [ { "id": "0050881", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050881" } ] } ], "glycans": [], "biomarkers": [], "association_flag": "1000", "record_id": "doid.0050881" }