{ "disease_id": "DOID:0050888", "recommended_name": { "id": "DOID:0050888", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050888", "name": "syndromic intellectual disability", "description": "An intellectual disability that is characterized by the presence of associated medical and behavioral sign and symptoms." }, "synonyms": [], "children": [ { "id": "DOID:0060309", "label": "syndromic X-linked intellectual disability", "link_status": true, "children": [ { "id": "DOID:0050647", "label": "Arts syndrome", "link_status": true, "children": [] }, { "id": "DOID:0050681", "label": "Borjeson-Forssman-Lehmann syndrome", "link_status": true, "children": [] }, { "id": "DOID:0050764", "label": "Armfield syndrome", "link_status": true, "children": [] }, { "id": "DOID:0060179", "label": "Renpenning syndrome", "link_status": true, "children": [] }, { "id": "DOID:0060799", "label": "syndromic X-linked intellectual disability Lubs type", "link_status": true, "children": [] }, { "id": "DOID:0060800", "label": "syndromic X-linked intellectual disability 5", "link_status": true, "children": [] }, { "id": "DOID:0060801", "label": "MEHMO syndrome", "link_status": true, "children": [] }, { "id": "DOID:0060802", "label": "syndromic X-linked intellectual disability Snyder type", "link_status": true, "children": [] }, { "id": "DOID:0060805", "label": "Prieto syndrome", "link_status": true, "children": [] }, { "id": "DOID:0060806", "label": "syndromic X-linked intellectual disability Hedera type", "link_status": true, "children": [] }, { "id": "DOID:0060807", "label": "syndromic X-linked intellectual disability Najm type", "link_status": true, "children": [] }, { "id": "DOID:0060809", "label": "syndromic X-linked intellectual disability Claes-Jensen type", "link_status": true, "children": [] }, { "id": "DOID:0060810", "label": "syndromic X-linked intellectual disability type 10", "link_status": true, "children": [] }, { "id": "DOID:0060811", "label": "syndromic X-linked intellectual disability Turner type", "link_status": true, "children": [] }, { "id": "DOID:0060812", "label": "syndromic X-linked intellectual disability Siderius type", "link_status": true, "children": [] }, { "id": "DOID:0060814", "label": "Wilson-Turner syndrome", "link_status": true, "children": [] }, { "id": "DOID:0060815", "label": "Wieacker-Wolff syndrome", "link_status": true, "children": [] }, { "id": "DOID:0060816", "label": "corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome", "link_status": true, "children": [] }, { "id": "DOID:0060817", "label": "syndromic X-linked intellectual disability 34", "link_status": true, "children": [] }, { "id": "DOID:0060820", "label": "syndromic X-linked intellectual disability Nascimento type", "link_status": true, "children": [] }, { "id": "DOID:0060821", "label": "syndromic X-linked intellectual disability 14", "link_status": true, "children": [] }, { "id": "DOID:0060822", "label": "syndromic X-linked intellectual disability Cabezas type", "link_status": true, "children": [] }, { "id": "DOID:0060823", "label": "syndromic X-linked intellectual disability 94", "link_status": true, "children": [] }, { "id": "DOID:0060824", "label": "syndromic X-linked intellectual disability Raymond type", "link_status": true, "children": [] }, { "id": "DOID:0060825", "label": "Christianson syndrome", "link_status": true, "children": [] }, { "id": "DOID:0060826", "label": "syndromic X-linked intellectual disability Shashi type", "link_status": true, "children": [] }, { "id": "DOID:0060827", "label": "X-linked intellectual disability-psychosis-macroorchidism syndrome", "link_status": true, "children": [] }, { "id": "DOID:0061015", "label": "female-restricted Wieacker-Wolff syndrome", "link_status": true, "children": [] }, { "id": "DOID:0070422", "label": "syndromic X-linked intellectual disability Pilorge type", "link_status": true, "children": [] }, { "id": "DOID:0070538", "label": "syndromic X-linked intellectual developmental disorder bain type", "link_status": true, "children": [] }, { "id": "DOID:0080241", "label": "syndromic X-linked mental retardation 35", "link_status": true, "children": [] }, { "id": "DOID:0080242", "label": "syndromic X-linked mental retardation Hough type", "link_status": true, "children": [] }, { "id": "DOID:0080311", "label": "Billuart-type X-linked syndromic intellectual developmental disorder", "link_status": true, "children": [] }, { "id": "DOID:0080982", "label": "X-linked intellectual disability-hypotonic facies syndrome-1", "link_status": true, "children": [] }, { "id": "DOID:0080984", "label": "X-linked intellectual developmental disorder 109", "link_status": true, "children": [] }, { "id": "DOID:0080985", "label": "syndromic X-linked intellectual disorder Lujan-Fryns-type", "link_status": true, "children": [] }, { "id": "DOID:0081123", "label": "X-linked mental retardation Gustavson type", "link_status": true, "children": [] 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true, "children": [] }, { "id": "DOID:14744", "label": "Partington syndrome", "link_status": true, "children": [] } ] }, { "id": "DOID:0061146", "label": "Pan-Chung-Bellen syndrome", "link_status": true, "children": [] }, { "id": "DOID:0070653", "label": "Fliedner-Zweier syndrome", "link_status": true, "children": [] }, { "id": "DOID:0070654", "label": "desmosterolosis", "link_status": true, "children": [] }, { "id": "DOID:0070677", "label": "Ferguson-Bonni neurodevelopmental syndrome", "link_status": true, "children": [] }, { "id": "DOID:0080312", "label": "neurodevelopmental disorder with midbrain and hindbrain malformations", "link_status": true, "children": [] }, { "id": "DOID:0080473", "label": "developmental delay and seizures with or without movement abnormalities", "link_status": true, "children": [] }, { "id": "DOID:0081301", "label": "intellectual developmental disorder with ocular anomalies and distinctive facial features", "link_status": true, "children": [] }, { "id": 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"type": "synonym" }, { "name": "26S proteasome regulatory subunit RPN6-A", "type": "synonym" }, { "name": "proteasome (prosome, macropain) 216S subunit, non-ATPase, 11a", "type": "synonym" }, { "name": "proteasome (prosome, macropain) 26S subunit, non-ATPase, 11a", "type": "synonym" }, { "name": "proteasome 216S subunit, non-ATPase, 11a", "type": "synonym" } ], "gene_names": [ { "name": "psmd11a", "type": "recommended" }, { "name": "im:7148232", "type": "synonym" }, { "name": "psmd11a", "type": "synonym" }, { "name": "wu:fb44g10", "type": "synonym" }, { "name": "wu:fc16c05", "type": "synonym" } ], "record_id": "F6P3G4-1", "evidence": [ { "id": "0050888", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050888" } ] }, { "uniprot_canonical_ac": "A0A8M9NYQ0-1", "uniprot_ac": "A0A8M9NYQ0", "uniprot_id": "A0A8M9NYQ0_DANRE", "refseq_ac": "XP_021322132", "glycoprotein": "no", "species": [ { "name": "Danio rerio", "taxid": 7955, "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "protein_names": [ { "name": "Protein furry homolog isoform X1", "type": "synonym" }, { "name": "protein furry homolog isoform X1", "type": "synonym" } ], "gene_names": [ { "name": "frya", "type": "recommended" }, { "name": "frya", "type": "synonym" } ], "record_id": "A0A8M9NYQ0-1", "evidence": [ { "id": "0050888", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050888" } ] }, { "uniprot_canonical_ac": "A0AC58I3F5-1", "uniprot_ac": "A0AC58I3F5", "uniprot_id": "A0AC58I3F5_DANRE", "refseq_ac": "XP_073788777", "glycoprotein": "yes", "species": [ { "name": "Danio rerio", "taxid": 7955, "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "protein_names": [ { "name": "Protein furry homolog-like isoform X1", "type": "synonym" }, { "name": "protein furry homolog-like isoform X1", "type": "synonym" } ], "gene_names": [ { "name": "fryl", "type": "recommended" }, { "name": "fc84g03", "type": "synonym" }, { "name": "fryl", "type": "synonym" }, { "name": "im:6912409", "type": "synonym" }, { "name": "si:dkey-90m5.7", "type": "synonym" }, { "name": "wu:fc84g03", "type": "synonym" } ], "record_id": "A0AC58I3F5-1", "evidence": [ { "id": "0050888", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050888" } ] }, { "uniprot_canonical_ac": "A0AB32TIX3-1", "uniprot_ac": "A0AB32TIX3", "uniprot_id": "A0AB32TIX3_DANRE", "refseq_ac": "XP_068074707", "glycoprotein": "yes", "species": [ { "name": "Danio rerio", "taxid": 7955, "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "protein_names": [ { "name": "Protein furry homolog isoform X1", "type": "synonym" }, { "name": "protein furry homolog isoform X1", "type": "synonym" } ], "gene_names": [ { "name": "fryb", "type": "recommended" }, { "name": "fryb", "type": "synonym" } ], "record_id": "A0AB32TIX3-1", "evidence": [ { "id": "0050888", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050888" } ] }, { "uniprot_canonical_ac": "A0A8M9Q713-1", "uniprot_ac": "A0A8M9Q713", "uniprot_id": "A0A8M9Q713_DANRE", "refseq_ac": "NP_001334536", "glycoprotein": "no", "species": [ { "name": "Danio rerio", "taxid": 7955, "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "protein_names": [ { "name": "[histone H3]-trimethyl-L-lysine(4) demethylase", "type": "recommended" }, { "name": "1.14.11.67", "type": "synonym" }, { "name": "jumonji, AT rich interactive domain 1B (Rbp2 like)", "type": "synonym" }, { "name": "jumonji, AT rich interactive domain 1Ba (Rbp2 like)", "type": "synonym" }, { "name": "lysine (K)-specific demethylase 5Ba", "type": "synonym" } ], "gene_names": [ { "name": "kdm5ba", "type": "recommended" }, { "name": "id:ibd5050", "type": "synonym" }, { "name": "jarid1ba", "type": "synonym" }, { "name": "jarid1b", "type": "synonym" }, { "name": "kdm5ba", "type": "synonym" }, { "name": "wu:fd15c05", "type": "synonym" } ], "record_id": "A0A8M9Q713-1", "evidence": [ { "id": "0050888", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050888" } ] }, { "uniprot_canonical_ac": "Q6PSS4-1", "uniprot_ac": "Q6PSS4", "uniprot_id": "Q6PSS4_DANRE", "refseq_ac": "NP_001013278", "glycoprotein": "yes", "species": [ { "name": "Danio rerio", "taxid": 7955, "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "protein_names": [ { "name": "GABA(A) receptor associated protein", "type": "synonym" }, { "name": "GABA(A) receptor-associated protein a", "type": "synonym" } ], "gene_names": [ { "name": "gabarapa", "type": "recommended" }, { "name": "gabarapa", "type": "synonym" }, { "name": "gabarap", "type": "synonym" }, { "name": "mg:bb02b03", "type": "synonym" } ], "record_id": "Q6PSS4-1", "evidence": [ { "id": "0050888", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050888" } ] }, { "uniprot_canonical_ac": "A0A8M2B358-1", "uniprot_ac": "A0A8M2B358", "uniprot_id": "A0A8M2B358_DANRE", "refseq_ac": "XP_073774611", "glycoprotein": "yes", "species": [ { "name": "Danio rerio", "taxid": 7955, "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "protein_names": [ { "name": "Uncharacterized protein srcap isoform X1", "type": "synonym" }, { "name": "uncharacterized protein srcap isoform X1", "type": "synonym" } ], "gene_names": [ { "name": "srcap", "type": "recommended" }, { "name": "srcap", "type": "synonym" } ], "record_id": "A0A8M2B358-1", "evidence": [ { "id": "0050888", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050888" } ] }, { "uniprot_canonical_ac": "A0AC58II20-1", "uniprot_ac": "A0AC58II20", "uniprot_id": "A0AC58II20_DANRE", "refseq_ac": "XP_073793894", "glycoprotein": "yes", "species": [ { "name": "Danio rerio", "taxid": 7955, "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "protein_names": [ { "name": "Histone-lysine N-methyltransferase, H3 lysine-79 specific", "type": "recommended" }, { "name": "2.1.1.360", "type": "synonym" }, { "name": "Histone H3-K79 methyltransferase", "type": "synonym" }, { "name": "histone-lysine N-methyltransferase, H3 lysine-79 specific isoform X1", "type": "synonym" } ], "gene_names": [ { "name": "dot1l", "type": "recommended" }, { "name": "dot1l", "type": "synonym" } ], "record_id": "A0AC58II20-1", "evidence": [ { "id": "0050888", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050888" } ] }, { "uniprot_canonical_ac": "A0A8M3AVF1-1", "uniprot_ac": "A0A8M3AVF1", "uniprot_id": "A0A8M3AVF1_DANRE", "refseq_ac": "XP_009302476", "glycoprotein": "yes", "species": [ { "name": "Danio rerio", "taxid": 7955, "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "protein_names": [ { "name": "E1A-binding protein p400 isoform X1", "type": "synonym" } ], "gene_names": [ { "name": "ep400", "type": "recommended" }, { "name": "ep400", "type": "synonym" } ], "record_id": "A0A8M3AVF1-1", "evidence": [ { "id": "0050888", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050888" } ] }, { "uniprot_canonical_ac": "A0A8M1PAI6-1", "uniprot_ac": "A0A8M1PAI6", "uniprot_id": "A0A8M1PAI6_DANRE", "refseq_ac": "NP_001338603", "glycoprotein": "yes", "species": [ { "name": "Danio rerio", "taxid": 7955, "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "protein_names": [ { "name": "GTP binding protein 2", "type": "synonym" }, { "name": "GTP-binding protein 2b", "type": "synonym" } ], "gene_names": [ { "name": "gtpbp2b", "type": "recommended" }, { "name": "gtpbp2b", "type": "synonym" }, { "name": "gtpbp2", "type": "synonym" }, { "name": "si:ch211-151i8.2", "type": "synonym" }, { "name": 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matrix protein SNEV", "type": "synonym" }, { "name": "pre-mRNA-processing factor 19 isoform 1", "type": "synonym" }, { "name": "prp19 beta", "type": "synonym" }, { "name": "senescence evasion factor", "type": "synonym" } ], "gene_names": [ { "name": "Prpf19", "type": "recommended" }, { "name": "D19Wsu55e", "type": "synonym" }, { "name": "NMP200", "type": "synonym" }, { "name": "PSO4", "type": "synonym" }, { "name": "Prp19", "type": "synonym" }, { "name": "Prpf19", "type": "synonym" }, { "name": "Snev", "type": "synonym" } ], "record_id": "Q99KP6-1", "evidence": [ { "id": "0050888", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050888" } ] }, { "uniprot_canonical_ac": "Q8BG32-1", "uniprot_ac": "Q8BG32", "uniprot_id": "PSD11_MOUSE", "refseq_ac": "NP_848731", "glycoprotein": "yes", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "26S proteasome non-ATPase regulatory subunit 11", "type": "recommended" }, { "name": "26S proteasome non-ATPase regulatory subunit 11", "type": "synonym" }, { "name": "26S proteasome regulatory subunit RPN6", "type": "synonym" }, { "name": "26S proteasome regulatory subunit S9", "type": "synonym" }, { "name": "26S proteasome regulatory subunit p44.5", "type": "synonym" } ], "gene_names": [ { "name": "Psmd11", "type": "recommended" }, { "name": "1700089D09Rik", "type": "synonym" }, { "name": "1810019E17Rik", "type": "synonym" }, { "name": "2610024G20Rik", "type": "synonym" }, { "name": "2810055C24Rik", "type": "synonym" }, { "name": "P44.5", "type": "synonym" }, { "name": "Psmd11", "type": "synonym" }, { "name": "S9", "type": "synonym" } ], "record_id": "Q8BG32-1", "evidence": [ { "id": "0050888", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050888" } ] }, { "uniprot_canonical_ac": "Q8BRN9-1", "uniprot_ac": "Q8BRN9", "uniprot_id": "C2D1B_MOUSE", "refseq_ac": "NP_796019", "glycoprotein": "yes", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Coiled-coil and C2 domain-containing protein 1B", "type": "recommended" }, { "name": "FRE under dual repression-binding protein 2", "type": "synonym" }, { "name": "Five prime repressor element under dual repression-binding protein 2", "type": "synonym" }, { "name": "Freud-2", "type": "synonym" }, { "name": "coiled-coil and C2 domain-containing protein 1B", "type": "synonym" }, { "name": "five prime repressor element under dual repression-binding protein 2", "type": "synonym" }, { "name": "freud-2", "type": "synonym" } ], "gene_names": [ { "name": "Cc2d1b", "type": "recommended" }, { "name": "A830039B04Rik", "type": "synonym" }, { "name": "Cc2d1b", "type": "synonym" }, { "name": "Freud2", "type": "synonym" }, { "name": "Kiaa1836", "type": "synonym" } ], "record_id": "Q8BRN9-1", "evidence": [ { "id": "0050888", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050888" } ] }, { "uniprot_canonical_ac": "Q8K1A6-1", "uniprot_ac": "Q8K1A6", "uniprot_id": "C2D1A_MOUSE", "refseq_ac": "NP_666082", "glycoprotein": "yes", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Coiled-coil and C2 domain-containing protein 1A", "type": "recommended" }, { "name": "5-HT1A receptor", "type": "synonym" }, { "name": "FRE under dual repression-binding protein 1", "type": "synonym" }, { "name": "Five prime repressor element under dual repression-binding protein 1", "type": "synonym" }, { "name": "Freud-1", "type": "synonym" }, { "name": "coiled-coil and C2 domain-containing protein 1A isoform 1", "type": "synonym" }, { "name": "coiled-coil and C2 domain-containing protein 1A", "type": "synonym" }, { "name": "five prime repressor element under dual repression-binding protein 1", "type": "synonym" }, { "name": "five' repressor element under dual repression binding protein 1", "type": "synonym" }, { "name": "putative NFkB activating protein", "type": "synonym" } ], "gene_names": [ { "name": "Cc2d1a", "type": "recommended" }, { "name": "Cc2d1a", "type": "synonym" }, { "name": "Freud-1", "type": "synonym" }, { "name": "Tape", "type": "synonym" } ], "record_id": "Q8K1A6-1", "evidence": [ { "id": "0050888", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050888" } ] }, { "uniprot_canonical_ac": "P41230-1", "uniprot_ac": "P41230", "uniprot_id": "KDM5C_MOUSE", "refseq_ac": "NP_038696", "glycoprotein": "yes", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Lysine-specific demethylase 5C", "type": "recommended" }, { "name": "1.14.11.67", "type": "synonym" }, { "name": "Histone demethylase JARID1C", "type": "synonym" }, { "name": "Jumonji/ARID domain-containing protein 1C", "type": "synonym" }, { "name": "Protein SmcX", "type": "synonym" }, { "name": "Protein Xe169", "type": "synonym" }, { "name": "[histone H3]-trimethyl-L-lysine(4) demethylase 5C", "type": "synonym" }, { "name": "histone demethylase JARID1C", "type": "synonym" }, { "name": "jumonji, AT rich interactive domain 1C (Rbp2 like)", "type": "synonym" }, { "name": "jumonji/ARID domain-containing protein 1C", "type": "synonym" }, { "name": "lysine (K)-specific demethylase 5C", "type": "synonym" }, { "name": "lysine-specific demethylase 5C isoform 1", "type": "synonym" }, { "name": "lysine-specific demethylase 5C", "type": "synonym" }, { "name": "selected mouse cDNA on the X", "type": "synonym" } ], "gene_names": [ { "name": "Kdm5c", "type": "recommended" }, { "name": "D930009K15Rik", "type": "synonym" }, { "name": "Jarid1c", "type": "synonym" }, { "name": "Kdm5c", "type": "synonym" }, { "name": "Kiaa0234", "type": "synonym" }, { "name": "Smcx", "type": "synonym" }, { "name": "Xe169", "type": "synonym" }, { "name": "mKIAA0234", "type": "synonym" } ], "record_id": "P41230-1", "evidence": [ { "id": "0050888", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050888" } ] }, { "uniprot_canonical_ac": "Q9Z255-1", "uniprot_ac": "Q9Z255", "uniprot_id": "UBE2A_MOUSE", "refseq_ac": "NP_062642", "glycoprotein": "no", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Ubiquitin-conjugating enzyme E2 A", "type": "recommended" }, { "name": "2.3.2.23", "type": "synonym" }, { "name": "E2 ubiquitin-conjugating enzyme A", "type": "synonym" }, { "name": "HR6A", "type": "synonym" }, { "name": "RAD6 homolog A", "type": "synonym" }, { "name": "Ubiquitin carrier protein A", "type": "synonym" }, { "name": "Ubiquitin-protein ligase A", "type": "synonym" }, { "name": "mHR6A", "type": "synonym" }, { "name": "ubiquitin carrier protein A", "type": "synonym" }, { "name": "ubiquitin-conjugating enzyme E2 A isoform 1", "type": "synonym" }, { "name": "ubiquitin-conjugating enzyme E2A (RAD6 homolog)", "type": "synonym" }, { "name": "ubiquitin-conjugating enzyme HR6A", "type": "synonym" }, { "name": "ubiquitin-protein ligase A", "type": "synonym" } ], "gene_names": [ { "name": "Ube2a", "type": "recommended" }, { "name": "HHR6A", "type": "synonym" }, { "name": "HR6A", "type": "synonym" }, { "name": "Mhr6a", "type": "synonym" }, { "name": "Rad6a", "type": "synonym" }, { "name": "Ube2a", "type": "synonym" } ], "record_id": "Q9Z255-1", "evidence": [ { "id": "0050888", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050888" } ] }, { "uniprot_canonical_ac": "Q3UXZ9-1", "uniprot_ac": "Q3UXZ9", "uniprot_id": "KDM5A_MOUSE", "refseq_ac": "NP_666109", "glycoprotein": "no", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Lysine-specific demethylase 5A", "type": "recommended" }, { "name": "1.14.11.67", "type": "synonym" }, { "name": "Histone demethylase JARID1A", "type": "synonym" }, { "name": "Jumonji/ARID domain-containing protein 1A", "type": "synonym" }, { "name": "RBBP-2", "type": "synonym" }, { "name": "Retinoblastoma-binding protein 2", "type": "synonym" }, { "name": "[histone H3]-trimethyl-L-lysine(4) demethylase 5A", "type": "synonym" }, { "name": "histone demethylase JARID1A", "type": "synonym" }, { "name": "jumonji, AT rich interactive domain 1A (Rbp2 like)", "type": "synonym" }, { "name": "jumonji/ARID domain-containing protein 1A", "type": "synonym" }, { "name": "lysine (K)-specific demethylase 5A", "type": "synonym" }, { "name": "lysine-specific demethylase 5A", "type": "synonym" }, { "name": "retinoblastoma binding protein 2", "type": "synonym" } ], "gene_names": [ { "name": "Kdm5a", "type": "recommended" }, { "name": "Jarid1a", "type": "synonym" }, { "name": "Kdm5a", "type": "synonym" }, { "name": "RBP2", "type": "synonym" }, { "name": "Rbbp2", "type": "synonym" }, { "name": "Rbp2", "type": "synonym" } ], "record_id": "Q3UXZ9-1", "evidence": [ { "id": "0050888", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050888" } ] }, { "uniprot_canonical_ac": "O88685-1", "uniprot_ac": "O88685", "uniprot_id": "PRS6A_MOUSE", "refseq_ac": "NP_032974", "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 6A", "type": "recommended" }, { "name": "26S protease regulatory subunit 6A", "type": "synonym" }, { "name": "26S proteasome AAA-ATPase subunit RPT5", "type": "synonym" }, { "name": "26S proteasome regulatory subunit 6A", "type": "synonym" }, { "name": "Proteasome 26S subunit ATPase 3", "type": "synonym" }, { "name": "TAT-binding protein 1", "type": "synonym" }, { "name": "TBP-1", "type": "synonym" }, { "name": "Tat binding protein 1", "type": "synonym" }, { "name": "Tat-binding protein 1", "type": "synonym" }, { "name": "proteasome 26S subunit ATPase 3", "type": "synonym" } ], "gene_names": [ { "name": "Psmc3", "type": "recommended" }, { "name": "Psmc3", "type": "synonym" }, { "name": "TBP-1", "type": "synonym" }, { "name": "Tbp1", "type": "synonym" } ], "record_id": "O88685-1", "evidence": [ { "id": "0050888", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050888" } ] }, { "uniprot_canonical_ac": "Q3UJK4-1", "uniprot_ac": "Q3UJK4", "uniprot_id": "GTPB2_MOUSE", "refseq_ac": "NP_001139451", "glycoprotein": "yes", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "GTP-binding protein 2", "type": "recommended" }, { "name": "GTP-binding protein 2 isoform 2", "type": "synonym" }, { "name": "GTP-binding-like protein 2", "type": "synonym" } ], "gene_names": [ { "name": "Gtpbp2", "type": "recommended" }, { "name": "Gtpbp2", "type": "synonym" }, { "name": "nmf205", "type": "synonym" } ], "record_id": "Q3UJK4-1", "evidence": [ { "id": "0050888", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050888" } ] }, { "uniprot_canonical_ac": "Q9DCD6-1", "uniprot_ac": "Q9DCD6", "uniprot_id": "GBRAP_MOUSE", "refseq_ac": "NP_062723", "glycoprotein": "yes", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Gamma-aminobutyric acid receptor-associated protein", "type": "recommended" }, { "name": "GABA(A) receptor-associated protein", "type": "synonym" }, { "name": "GABA-A receptor-associated protein", "type": "synonym" }, { "name": "gamma-aminobutyric acid receptor-associated protein", "type": "synonym" }, { "name": "gamma-aminobutyric acid reseptor associated protein", "type": "synonym" } ], "gene_names": [ { "name": "Gabarap", "type": "recommended" }, { "name": "Gabarap", "type": "synonym" } ], "record_id": "Q9DCD6-1", "evidence": [ { "id": "0050888", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050888" } ] }, { "uniprot_canonical_ac": "A0A087WQ44-1", "uniprot_ac": "A0A087WQ44", "uniprot_id": "A0A087WQ44_MOUSE", "refseq_ac": "NP_001291195", "glycoprotein": "yes", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Snf2-related CBP activator protein", "type": "synonym" }, { "name": "Snf2-related CREBBP activator protein", "type": "synonym" }, { "name": "helicase SRCAP", "type": "synonym" } ], "gene_names": [ { "name": "Srcap", "type": "recommended" }, { "name": "B930091H02Rik", "type": "synonym" }, { "name": "D030022P06Rik", "type": "synonym" }, { "name": "F630004O05Rik", "type": "synonym" }, { "name": "Srcap", "type": "synonym" } ], "record_id": "A0A087WQ44-1", "evidence": [ { "id": "0050888", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050888" } ] }, { "uniprot_canonical_ac": "P63147-1", "uniprot_ac": "P63147", "uniprot_id": "UBE2B_MOUSE", "refseq_ac": "NP_033484", "glycoprotein": "no", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Ubiquitin-conjugating enzyme E2 B", "type": "recommended" }, { "name": "2.3.2.23", "type": "synonym" }, { "name": "E2 ubiquitin-conjugating enzyme B", "type": "synonym" }, { "name": "E214K", "type": "synonym" }, { "name": "HR6B", "type": "synonym" }, { "name": "RAD6 homolog B", "type": "synonym" }, { "name": "Ubiquitin carrier protein B", "type": "synonym" }, { "name": "Ubiquitin-protein ligase B", "type": "synonym" }, { "name": "mHR6B", "type": "synonym" }, { "name": "ubiquitin carrier protein B", "type": "synonym" }, { "name": "ubiquitin-conjugating enzyme E2 B isoform 1", "type": "synonym" }, { "name": "ubiquitin-conjugating enzyme E2B, RAD6 homology", "type": "synonym" }, { "name": "ubiquitin-protein ligase B", "type": "synonym" } ], "gene_names": [ { "name": "Ube2b", "type": "recommended" }, { "name": "E2-14k", "type": "synonym" }, { "name": "E214K", "type": "synonym" }, { "name": "HR6B", "type": "synonym" }, { "name": "Rad6b", "type": "synonym" }, { "name": "Ube2b", "type": "synonym" }, { "name": "mHR6B", "type": "synonym" } ], "record_id": "P63147-1", "evidence": [ { "id": "0050888", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050888" } ] }, { "uniprot_canonical_ac": "F8VQ05-1", "uniprot_ac": "F8VQ05", "uniprot_id": "F8VQ05_MOUSE", "refseq_ac": "NP_082470", "glycoprotein": "yes", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "FRY like transcription coactivator", "type": "synonym" }, { "name": "furry homolog-like", "type": "synonym" }, { "name": "protein furry homolog-like", "type": "synonym" } ], "gene_names": [ { "name": "Fryl", "type": "recommended" }, { "name": "2010313D22Rik", "type": "synonym" }, { "name": "2310004H21Rik", "type": "synonym" }, { "name": "2510002A14Rik", "type": "synonym" }, { "name": "9030227G01Rik", "type": "synonym" }, { "name": "Fryl", "type": "synonym" }, { "name": "mKIAA0826", "type": "synonym" } ], "record_id": "F8VQ05-1", "evidence": [ { "id": "0050888", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050888" } ] }, { "uniprot_canonical_ac": "Q80Y84-1", "uniprot_ac": "Q80Y84", "uniprot_id": "KDM5B_MOUSE", "refseq_ac": "NP_690855", "glycoprotein": "yes", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Lysine-specific demethylase 5B", "type": "recommended" }, { "name": "1.14.11.67", "type": "synonym" }, { "name": "Histone demethylase JARID1B", "type": "synonym" }, { "name": "Jumonji/ARID domain-containing protein 1B", "type": "synonym" }, { "name": "PLU-1", "type": "synonym" }, { "name": "[histone H3]-trimethyl-L-lysine(4) demethylase 5B", "type": "synonym" }, { "name": "histone demethylase JARID1B", "type": "synonym" }, { "name": "jumonji, AT rich interactive domain 1B (Rbp2 like)", "type": "synonym" }, { "name": "jumonji/ARID domain-containing protein 1B", "type": "synonym" }, { "name": "lysine (K)-specific demethylase 5B", "type": "synonym" }, { "name": "lysine-specific demethylase 5B", "type": "synonym" }, { "name": "putative DNA/chromatin binding motif 1", "type": "synonym" } ], "gene_names": [ { "name": "Kdm5b", "type": "recommended" }, { "name": "2010009J12Rik", "type": "synonym" }, { "name": "2210016I17Rik", "type": "synonym" }, { "name": "D1Ertd202e", "type": "synonym" }, { "name": "Jarid1b", "type": "synonym" }, { "name": "Kdm5b", "type": "synonym" }, { "name": "Kiaa4034", "type": "synonym" }, { "name": "PLU-1", "type": "synonym" }, { "name": "PUT1", "type": "synonym" }, { "name": "Plu1", "type": "synonym" }, { "name": "RBBP2H1A", "type": "synonym" }, { "name": "Rb-Bp2", "type": "synonym" }, { "name": "mKIAA4034", "type": "synonym" } ], "record_id": "Q80Y84-1", "evidence": [ { "id": "0050888", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050888" } ] }, { "uniprot_canonical_ac": "Q8CHI8-1", "uniprot_ac": "Q8CHI8", "uniprot_id": "EP400_MOUSE", "refseq_ac": "NP_083613", "glycoprotein": "yes", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "E1A-binding protein p400", "type": "recommended" }, { "name": "3.6.4.-", "type": "synonym" }, { "name": "Domino homolog", "type": "synonym" }, { "name": "E1A-binding protein p400 isoform 1", "type": "synonym" }, { "name": "domino homolog", "type": "synonym" }, { "name": "mDomino", "type": "synonym" }, { "name": "p400 kDa SWI2/SNF2-related protein", "type": "synonym" } ], "gene_names": [ { "name": "Ep400", "type": "recommended" }, { "name": "1700020J09Rik", "type": "synonym" }, { "name": "Ep400", "type": "synonym" }, { "name": "Kiaa1498", "type": "synonym" }, { "name": "mDomino", "type": "synonym" }, { "name": "mKIAA1498", "type": "synonym" }, { "name": "p400", "type": "synonym" } ], "record_id": "Q8CHI8-1", "evidence": [ { "id": "0050888", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050888" } ] }, { "uniprot_canonical_ac": "Q6XZL8-1", "uniprot_ac": "Q6XZL8", "uniprot_id": "DOT1L_MOUSE", "refseq_ac": "NP_955354", "glycoprotein": "yes", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Histone-lysine N-methyltransferase, H3 lysine-79 specific", "type": "recommended" }, { "name": "2.1.1.360", "type": "synonym" }, { "name": "DOT1-like histone H3 methyltransferase", "type": "synonym" }, { "name": "DOT1-like, histone H3 methyltransferase", "type": "synonym" }, { "name": "histone H3 methyltransferase DOT1", "type": "synonym" }, { "name": "histone methyltransferase DOT1L", "type": "synonym" }, { "name": "histone-lysine N-methyltransferase, H3 lysine-79 specific", "type": "synonym" } ], "gene_names": [ { "name": "Dot1l", "type": "recommended" }, { "name": "A630076O07", "type": "synonym" }, { "name": "Dot1l", "type": "synonym" }, { "name": "Dot1", "type": "synonym" }, { "name": "KMT4", "type": "synonym" }, { "name": "mDot1", "type": "synonym" } ], "record_id": "Q6XZL8-1", "evidence": [ { "id": "0050888", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050888" } ] }, { "uniprot_canonical_ac": "B9EJ80-1", "uniprot_ac": "B9EJ80", "uniprot_id": "PDZD8_MOUSE", "refseq_ac": "NP_001028394", "glycoprotein": "yes", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "PDZ domain-containing protein 8", "type": "recommended" }, { "name": "PDZ domain-containing protein 8", "type": "synonym" } ], "gene_names": [ { "name": "Pdzd8", "type": "recommended" }, { "name": "A630041P07Rik", "type": "synonym" }, { "name": "Pdzd8", "type": "synonym" }, { "name": "Pdzk8", "type": "synonym" } ], "record_id": "B9EJ80-1", "evidence": [ { "id": "0050888", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050888" } ] }, { "uniprot_canonical_ac": "Q62240-1", "uniprot_ac": "Q62240", "uniprot_id": "KDM5D_MOUSE", "refseq_ac": "NP_035549", "glycoprotein": "no", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Lysine-specific demethylase 5D", "type": "recommended" }, { "name": "1.14.11.67", "type": "synonym" }, { "name": "H-Y", "type": "synonym" }, { "name": "Histocompatibility Y antigen", "type": "synonym" }, { "name": "Histone demethylase JARID1D", "type": "synonym" }, { "name": "Jumonji/ARID domain-containing protein 1D", "type": "synonym" }, { "name": "Protein SmcY", "type": "synonym" }, { "name": "[histone H3]-trimethyl-L-lysine(4) demethylase 5D", "type": "synonym" }, { "name": "histocompatibility Y antigen", "type": "synonym" }, { "name": "histone demethylase JARID1D", "type": "synonym" }, { "name": "jumonji, AT rich interactive domain 1D (Rbp2 like)", "type": "synonym" }, { "name": "jumonji/ARID domain-containing protein 1D", "type": "synonym" }, { "name": "lysine (K)-specific demethylase 5D", "type": "synonym" }, { "name": "lysine-specific demethylase 5D", "type": "synonym" }, { "name": "protein SmcY", "type": "synonym" }, { "name": "selected mouse cDNA on the Y", "type": "synonym" } ], "gene_names": [ { "name": "Kdm5d", "type": "recommended" }, { "name": "H-Y", "type": "synonym" }, { "name": "HY", "type": "synonym" }, { "name": "Hya", "type": "synonym" }, { "name": "Jarid1d", "type": "synonym" }, { "name": "Kdm5d", "type": "synonym" }, { "name": "Smcy", "type": "synonym" } ], "record_id": "Q62240-1", "evidence": [ { "id": "0050888", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050888" } ] }, { "uniprot_canonical_ac": "E9Q8I9-1", "uniprot_ac": "E9Q8I9", "uniprot_id": "FRY_MOUSE", "refseq_ac": "NP_766475", "glycoprotein": "yes", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Protein furry homolog", "type": "recommended" }, { "name": "furry homolog", "type": "synonym" }, { "name": "protein furry homolog", "type": "synonym" } ], "gene_names": [ { "name": "Fry", "type": "recommended" }, { "name": "13CDNA73", "type": "synonym" }, { "name": "9330186A19Rik", "type": "synonym" }, { "name": "D930046M03", "type": "synonym" }, { "name": "Fry", "type": "synonym" }, { "name": "Kiaa4143", "type": "synonym" }, { "name": "cg003", "type": "synonym" }, { "name": "mKIAA4143", "type": "synonym" } ], "record_id": "E9Q8I9-1", "evidence": [ { "id": "0050888", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050888" } ] }, { "uniprot_canonical_ac": "Q61214-1", "uniprot_ac": "Q61214", "uniprot_id": "DYR1A_MOUSE", "refseq_ac": "NP_001106860", "glycoprotein": "no", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Dual specificity tyrosine-phosphorylation-regulated kinase 1A", "type": "recommended" }, { "name": "2.7.11.23", "type": "synonym" }, { "name": "2.7.12.1", "type": "synonym" }, { "name": "Dual specificity YAK1-related kinase", "type": "synonym" }, { "name": "MNBH", "type": "synonym" }, { "name": "MP86", "type": "synonym" }, { "name": "Protein kinase minibrain homolog", "type": "synonym" }, { "name": "dual specificity YAK1-related kinase", "type": "synonym" }, { "name": "dual specificity tyrosine-phosphorylation-regulated kinase 1A isoform 1", "type": "synonym" }, { "name": "dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1a", "type": "synonym" }, { "name": "protein kinase minibrain homolog", "type": "synonym" } ], "gene_names": [ { "name": "Dyrk1a", "type": "recommended" }, { "name": "2310043O08Rik", "type": "synonym" }, { "name": "D16Ertd272e", "type": "synonym" }, { "name": "D16Ertd493e", "type": "synonym" }, { "name": "Dyrk1a", "type": "synonym" }, { "name": "Dyrk", "type": "synonym" }, { "name": "Gm10783", "type": "synonym" }, { "name": "Mnbh", "type": "synonym" }, { "name": "Mp86", "type": "synonym" }, { "name": "mmb", "type": "synonym" } ], "record_id": "Q61214-1", "evidence": [ { "id": "0050888", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050888" } ] }, { "uniprot_canonical_ac": "Q8VHH5-1", "uniprot_ac": "Q8VHH5", "uniprot_id": "AGAP3_MOUSE", "refseq_ac": "", "glycoprotein": "yes", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 3", "type": "recommended" }, { "name": "AGAP-3", "type": "synonym" }, { "name": "CRAG", "type": "synonym" }, { "name": "CRAM-associated GTPase", "type": "synonym" }, { "name": "Centaurin-gamma-3", "type": "synonym" }, { "name": "Cnt-g3", "type": "synonym" }, { "name": "MR1-interacting protein", "type": "synonym" }, { "name": "MRIP-1", "type": "synonym" } ], "gene_names": [ { "name": "Agap3", "type": "recommended" }, { "name": "Centg3", "type": "synonym" } ], "record_id": "Q8VHH5-1", "evidence": [ { "id": "0050888", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050888" } ] }, { "uniprot_canonical_ac": "Q3UHD9-1", "uniprot_ac": "Q3UHD9", "uniprot_id": "AGAP2_MOUSE", "refseq_ac": "NP_001028435", "glycoprotein": "yes", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 2", "type": "recommended" }, { "name": "AGAP-2", "type": "synonym" }, { "name": "Centaurin-gamma-1", "type": "synonym" }, { "name": "Cnt-g1", "type": "synonym" }, { "name": "PIKE", "type": "synonym" }, { "name": "Phosphatidylinositol 3-kinase enhancer", "type": "synonym" }, { "name": "arf-GAP with GTPase, ANK repeat and PH domain-containing protein 2 isoform 1", "type": "synonym" }, { "name": "arf-GAP with GTPase, ANK repeat and PH domain-containing protein 2", "type": "synonym" }, { "name": "centaurin, gamma 1", "type": "synonym" }, { "name": "phosphatidylinositol 3-kinase enhancer", "type": "synonym" } ], "gene_names": [ { "name": "Agap2", "type": "recommended" }, { "name": "AGAP-2", "type": "synonym" }, { "name": "Agap2", "type": "synonym" }, { "name": "Centg1", "type": "synonym" }, { "name": "Kiaa0167", "type": "synonym" }, { "name": "PIKE", "type": "synonym" }, { "name": "cnt-g1", "type": "synonym" }, { "name": "mKIAA0167", "type": "synonym" } ], "record_id": "Q3UHD9-1", "evidence": [ { "id": "0050888", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050888" } ] }, { "uniprot_canonical_ac": "Q9Z188-1", "uniprot_ac": "Q9Z188", "uniprot_id": "DYR1B_MOUSE", "refseq_ac": "NP_001033046", "glycoprotein": "yes", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Dual specificity tyrosine-phosphorylation-regulated kinase 1B", "type": "recommended" }, { "name": "2.7.12.1", "type": "synonym" }, { "name": "dual specificity tyrosine-phosphorylation-regulated kinase 1B isoform p69", "type": "synonym" }, { "name": "dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1b", "type": "synonym" } ], "gene_names": [ { "name": "Dyrk1b", "type": "recommended" }, { "name": "Dyrk1b", "type": "synonym" }, { "name": "Mirk", "type": "synonym" } ], "record_id": "Q9Z188-1", "evidence": [ { "id": "0050888", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050888" } ] }, { "uniprot_canonical_ac": "Q8BXK8-1", "uniprot_ac": "Q8BXK8", "uniprot_id": "AGAP1_MOUSE", "refseq_ac": "NP_001032213", "glycoprotein": "yes", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 1", "type": "recommended" }, { "name": "AGAP-1", "type": "synonym" }, { "name": "Centaurin-gamma-2", "type": "synonym" }, { "name": "Cnt-g2", "type": "synonym" }, { "name": "arf-GAP with GTPase, ANK repeat and PH domain-containing protein 1 isoform 2", "type": "synonym" }, { "name": "arf-GAP with GTPase, ANK repeat and PH domain-containing protein 1", "type": "synonym" }, { "name": "centaurin-gamma-2", "type": "synonym" }, { "name": "cnt-g2", "type": "synonym" } ], "gene_names": [ { "name": "Agap1", "type": "recommended" }, { "name": "Agap1", "type": "synonym" }, { "name": "Centg2", "type": "synonym" }, { "name": "Ggap1", "type": "synonym" }, { "name": "Kiaa1099", "type": "synonym" }, { "name": "mKIAA1099", "type": "synonym" } ], "record_id": "Q8BXK8-1", "evidence": [ { "id": "0050888", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050888" } ] }, { "uniprot_canonical_ac": "Q61188-1", "uniprot_ac": "Q61188", "uniprot_id": "EZH2_MOUSE", "refseq_ac": "NP_031997", "glycoprotein": "yes", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Histone-lysine N-methyltransferase EZH2", "type": "recommended" }, { "name": "2.1.1.356", "type": "synonym" }, { "name": "ENX-1", "type": "synonym" }, { "name": "Enhancer of zeste homolog 2", "type": "synonym" }, { "name": "enhancer of zeste homolog 2", "type": "synonym" }, { "name": "histone-lysine N-methyltransferase EZH2 isoform 1", "type": "synonym" }, { "name": "histone-lysine N-methyltransferase EZH2", "type": "synonym" } ], "gene_names": [ { "name": "Ezh2", "type": "recommended" }, { "name": "Enx-1", "type": "synonym" }, { "name": "Enx1h", "type": "synonym" }, { "name": "Ezh2", "type": "synonym" }, { "name": "KMT6", "type": "synonym" }, { "name": "mKIAA4065", "type": "synonym" } ], "record_id": "Q61188-1", "evidence": [ { "id": "0050888", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050888" } ] }, { "uniprot_canonical_ac": "P70351-1", "uniprot_ac": "P70351", "uniprot_id": "EZH1_MOUSE", "refseq_ac": "NP_031996", "glycoprotein": "yes", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Histone-lysine N-methyltransferase EZH1", "type": "recommended" }, { "name": "2.1.1.356", "type": "synonym" }, { "name": "ENX-2", "type": "synonym" }, { "name": "Enhancer of zeste homolog 1", "type": "synonym" }, { "name": "enhancer of zeste homolog 1", "type": "synonym" }, { "name": "histone-lysine N-methyltransferase EZH1 isoform 1", "type": "synonym" }, { "name": "histone-lysine N-methyltransferase EZH1", "type": "synonym" } ], "gene_names": [ { "name": "Ezh1", "type": "recommended" }, { "name": "ENX-2", "type": "synonym" }, { "name": "Enx2", "type": "synonym" }, { "name": "Ezh1", "type": "synonym" } ], "record_id": "P70351-1", "evidence": [ { "id": "0050888", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050888" } ] }, { "uniprot_canonical_ac": "Q9CR96-1", "uniprot_ac": "Q9CR96", "uniprot_id": "TM208_MOUSE", "refseq_ac": "NP_079762", "glycoprotein": "no", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Transmembrane protein 208", "type": "recommended" }, { "name": "transmembrane protein 208 isoform 3", "type": "synonym" } ], "gene_names": [ { "name": "Tmem208", "type": "recommended" }, { "name": "1700006C06Rik", "type": "synonym" }, { "name": "2610030K20Rik", "type": "synonym" }, { "name": "Hspc171", "type": "synonym" }, { "name": "Tmem208", "type": "synonym" } ], "record_id": "Q9CR96-1", "evidence": [ { "id": "0050888", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050888" } ] }, { "uniprot_canonical_ac": "Q9EPU0-1", "uniprot_ac": "Q9EPU0", "uniprot_id": "RENT1_MOUSE", "refseq_ac": "NP_001116301", "glycoprotein": "yes", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Regulator of nonsense transcripts 1", "type": "recommended" }, { "name": "5.6.2.3", "type": "synonym" }, { "name": "5.6.2.5", "type": "synonym" }, { "name": "ATP-dependent helicase RENT1", "type": "synonym" }, { "name": "Double-stranded nucleic acid 5'-3' helicase Upf1", "type": "synonym" }, { "name": "NORF1", "type": "synonym" }, { "name": "Nonsense mRNA reducing factor 1", "type": "synonym" }, { "name": "UPF1 regulator of nonsense transcripts homolog", "type": "synonym" }, { "name": "Up-frameshift suppressor 1 homolog", "type": "synonym" }, { "name": "mUpf1", "type": "synonym" }, { "name": "regulator of nonsense transcripts 1 (Nonsense mRNA reducing factor 1) (NORF1) (Up-frameshift suppressor 1 homolog)", "type": "synonym" }, { "name": "regulator of nonsense transcripts 1 isoform a", "type": "synonym" } ], "gene_names": [ { "name": "Upf1", "type": "recommended" }, { "name": "B430202H16Rik", "type": "synonym" }, { "name": "NORF1", "type": "synonym" }, { "name": "PNORF-1", "type": "synonym" }, { "name": "Rent1", "type": "synonym" }, { "name": "Upf1", "type": "synonym" }, { "name": "Upflp", "type": "synonym" } ], "record_id": "Q9EPU0-1", "evidence": [ { "id": "0050888", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050888" } ] }, { "uniprot_canonical_ac": "Q0KK59-1", "uniprot_ac": "Q0KK59", "uniprot_id": "UNC79_MOUSE", "refseq_ac": "NP_001074486", "glycoprotein": "yes", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Protein unc-79 homolog", "type": "recommended" }, { "name": "modifier of locomotor activity 3", "type": "synonym" }, { "name": "protein unc-79 homolog", "type": "synonym" } ], "gene_names": [ { "name": "Unc79", "type": "recommended" }, { "name": "9030205A07Rik", "type": "synonym" }, { "name": "Kiaa1409", "type": "synonym" }, { "name": "Mlca3", "type": "synonym" }, { "name": "Unc79", "type": "synonym" } ], "record_id": "Q0KK59-1", "evidence": [ { "id": "0050888", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050888" } ] }, { "uniprot_canonical_ac": "Q7TS68-1", "uniprot_ac": "Q7TS68", "uniprot_id": "NSUN6_MOUSE", "refseq_ac": "NP_001159413", "glycoprotein": "no", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "tRNA (cytosine(72)-C(5))-methyltransferase NSUN6", "type": "recommended" }, { "name": "2.1.1.-", "type": "synonym" }, { "name": "NOL1/NOP2/Sun domain family 6", "type": "synonym" }, { "name": "NOL1/NOP2/Sun domain family member 6", "type": "synonym" }, { "name": "putative methyltransferase NSUN6", "type": "synonym" }, { "name": "tRNA (cytosine(72)-C(5))-methyltransferase NSUN6 isoform a", "type": "synonym" }, { "name": "tRNA (cytosine(72)-C(5))-methyltransferase NSUN6", "type": "synonym" } ], "gene_names": [ { "name": "Nsun6", "type": "recommended" }, { "name": "4933403D21Rik", "type": "synonym" }, { "name": "4933414E04Rik", "type": "synonym" }, { "name": "NOPD1", "type": "synonym" }, { "name": "Nsun6", "type": "synonym" } ], "record_id": "Q7TS68-1", "evidence": [ { "id": "0050888", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050888" } ] }, { "uniprot_canonical_ac": "Q9CQW1-1", "uniprot_ac": "Q9CQW1", "uniprot_id": "YKT6_MOUSE", "refseq_ac": "NP_062635", "glycoprotein": "no", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Synaptobrevin homolog YKT6", "type": "recommended" }, { "name": "2.3.1.-", "type": "synonym" }, { "name": "YKT6 homolog", "type": "synonym" }, { "name": "prenylated SNARE protein (Ykt6)", "type": "synonym" }, { "name": "synaptobrevin homolog YKT6", "type": "synonym" } ], "gene_names": [ { "name": "Ykt6", "type": "recommended" }, { "name": "0610042I15Rik", "type": "synonym" }, { "name": "1810013M05Rik", "type": "synonym" }, { "name": "Ykt6", "type": "synonym" } ], "record_id": "Q9CQW1-1", "evidence": [ { "id": "0050888", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050888" } ] }, { "uniprot_canonical_ac": "Q9ES56-1", "uniprot_ac": "Q9ES56", "uniprot_id": "TPPC4_MOUSE", "refseq_ac": "NP_068561", "glycoprotein": "no", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Trafficking protein particle complex subunit 4", "type": "recommended" }, { "name": "Synbindin", "type": "synonym" }, { "name": "TRS23 homolog", "type": "synonym" }, { "name": "synbindin", "type": "synonym" }, { "name": "syndecan binding protein 2", "type": "synonym" }, { "name": "trafficking protein particle complex subunit 4 isoform 1", "type": "synonym" }, { "name": "trafficking protein particle complex subunit 4", "type": "synonym" } ], "gene_names": [ { "name": "Trappc4", "type": "recommended" }, { "name": "1500017G03Rik", "type": "synonym" }, { "name": "HSPC172", "type": "synonym" }, { "name": "PTD009", "type": "synonym" }, { "name": "Sbdn", "type": "synonym" }, { "name": "Sbd", "type": "synonym" }, { "name": "Sdcbp2", "type": "synonym" }, { "name": "TRS23", "type": "synonym" }, { "name": "Trappc4", "type": "synonym" } ], "record_id": "Q9ES56-1", "evidence": [ { "id": "0050888", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050888" } ] }, { "uniprot_canonical_ac": "A0A087WPF7-1", "uniprot_ac": "A0A087WPF7", "uniprot_id": "AUTS2_MOUSE", "refseq_ac": "NP_001350409", "glycoprotein": "yes", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Autism susceptibility gene 2 protein homolog", "type": "recommended" }, { "name": "autism susceptibility gene 2 protein homolog", "type": "synonym" } ], "gene_names": [ { "name": "Auts2", "type": "recommended" }, { "name": "2700063G02Rik", "type": "synonym" }, { "name": "A730011F23Rik", "type": "synonym" }, { "name": "Auts2", "type": "synonym" }, { "name": "D830032G16Rik", "type": "synonym" }, { "name": "Kiaa0442", "type": "synonym" } ], "record_id": "A0A087WPF7-1", "evidence": [ { "id": "0050888", "database": "AGR", "url": 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"RPN6_YEAST", "refseq_ac": "NP_010186", "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 RPN6", "type": "recommended" }, { "name": "Proteasome non-ATPase subunit 4", "type": "synonym" }, { "name": "proteasome regulatory particle lid subunit RPN6", "type": "synonym" } ], "gene_names": [ { "name": "RPN6", "type": "recommended" }, { "name": "D2381", "type": "synonym" }, { "name": "NAS4", "type": "synonym" }, { "name": "RPN6", "type": "synonym" } ], "record_id": "Q12377-1", "evidence": [ { "id": "0050888", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050888" } ] }, { "uniprot_canonical_ac": "P32523-1", "uniprot_ac": "P32523", "uniprot_id": "PRP19_YEAST", "refseq_ac": "NP_013064", "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": "Pre-mRNA-processing factor 19", "type": "recommended" }, { "name": "2.3.2.27", "type": "synonym" }, { "name": "E3 ubiquitin-protein ligase PRP19", "type": "synonym" }, { "name": "RING-type E3 ubiquitin transferase PRP19", "type": "synonym" } ], "gene_names": [ { "name": "PRP19", "type": "recommended" }, { "name": "PRP19", "type": "synonym" }, { "name": "PSO4", "type": "synonym" } ], "record_id": "P32523-1", "evidence": [ { "id": "0050888", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050888" } ] }, { "uniprot_canonical_ac": "P06104-1", "uniprot_ac": "P06104", "uniprot_id": "UBC2_YEAST", "refseq_ac": "NP_011457", "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": "Ubiquitin-conjugating enzyme E2 2", "type": "recommended" }, { "name": "2.3.2.23", "type": "synonym" }, { "name": "E2 ubiquitin-conjugating enzyme 2", "type": "synonym" }, { "name": "E2 ubiquitin-conjugating protein RAD6", "type": "synonym" }, { "name": "Radiation sensitivity protein 6", "type": "synonym" }, { "name": "Ubiquitin carrier protein UBC2", "type": "synonym" }, { "name": "Ubiquitin-protein ligase UBC2", "type": "synonym" } ], "gene_names": [ { "name": "RAD6", "type": "recommended" }, { "name": "PSO8", "type": "synonym" }, { "name": "RAD6", "type": "synonym" }, { "name": "UBC2", "type": "synonym" } ], "record_id": "P06104-1", "evidence": [ { "id": "0050888", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050888" } ] }, { "uniprot_canonical_ac": "Q04089-1", "uniprot_ac": "Q04089", "uniprot_id": "DOT1_YEAST", "refseq_ac": "NP_010728", 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{ "id": "0050888", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050888" } ] }, { "uniprot_canonical_ac": "P47156-1", "uniprot_ac": "P47156", "uniprot_id": "JHD2_YEAST", "refseq_ac": "NP_012653", "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": "Histone demethylase JHD2", "type": "recommended" }, { "name": "1.14.11.67", "type": "synonym" }, { "name": "Jumonji/ARID domain-containing protein 2", "type": "synonym" }, { "name": "[histone H3]-trimethyl-L-lysine(4) demethylase JHD2", "type": "synonym" }, { "name": "histone demethylase", "type": "synonym" } ], "gene_names": [ { "name": "JHD2", "type": "recommended" }, { "name": "J2035", "type": "synonym" }, { "name": "JHD2", "type": "synonym" }, { "name": "KDM5", "type": "synonym" } ], "record_id": "P47156-1", "evidence": [ { "id": "0050888", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050888" } ] }, { "uniprot_canonical_ac": "Q05471-1", "uniprot_ac": "Q05471", "uniprot_id": "SWR1_YEAST", "refseq_ac": "NP_010621", "glycoprotein": "yes", "species": [ { "name": "Saccharomyces cerevisiae S288C", "taxid": 559292, "common_name": "Baker's yeast", "glygen_name": "Yeast", "reference_species": "Saccharomyces cerevisiae S288C [559292]" } ], "protein_names": [ { "name": "Chromatin remodeling protein SWR1", "type": "recommended" }, { "name": "3.6.4.-", "type": "synonym" }, { "name": "Swi2/Snf2-related 1", "type": "synonym" }, { "name": "chromatin-remodeling protein SWR1", "type": "synonym" } ], "gene_names": [ { "name": "SWR1", "type": "recommended" }, { "name": "D9651.6", "type": "synonym" }, { "name": "SWR1", "type": "synonym" } ], "record_id": "Q05471-1", "evidence": [ { "id": "0050888", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050888" } ] }, 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"database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050888" } ] }, { "uniprot_canonical_ac": "D4ABV1-1", "uniprot_ac": "D4ABV1", "uniprot_id": "D4ABV1_RAT", "refseq_ac": "NP_001013243", "glycoprotein": "yes", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "GTP-binding protein 2", "type": "recommended" }, { "name": "GTP-binding protein 2", "type": "synonym" } ], "gene_names": [ { "name": "Gtpbp2", "type": "recommended" }, { "name": "Gtpbp2", "type": "synonym" } ], "record_id": "D4ABV1-1", "evidence": [ { "id": "0050888", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050888" } ] }, { "uniprot_canonical_ac": "P63149-1", "uniprot_ac": "P63149", "uniprot_id": "UBE2B_RAT", "refseq_ac": "NP_112400", "glycoprotein": "no", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "Ubiquitin-conjugating enzyme E2 B", "type": "recommended" }, { "name": "2.3.2.23", "type": "synonym" }, { "name": "E2 ubiquitin-conjugating enzyme B", "type": "synonym" }, { "name": "E2(14k)", "type": "synonym" }, { "name": "HR6B", "type": "synonym" }, { "name": "RAD6 homolog B", "type": "synonym" }, { "name": "Ubiquitin carrier protein B", "type": "synonym" }, { "name": "Ubiquitin-conjugating enzyme E2(14k)", "type": "synonym" }, { "name": "Ubiquitin-protein ligase B", "type": "synonym" }, { "name": "ubiquitin carrier protein B", "type": "synonym" }, { "name": "ubiquitin conjugating enzyme", "type": "synonym" }, { "name": "ubiquitin-conjugating enzyme E2 B", "type": "synonym" }, { "name": "ubiquitin-conjugating enzyme E2(14k)", "type": "synonym" }, { "name": "ubiquitin-conjugating enzyme E2B (RAD6 homolog, S. cerevisiae)", "type": "synonym" }, { "name": "ubiquitin-conjugating enzyme E2B, RAD6 homology", "type": "synonym" }, { "name": "ubiquitin-protein ligase B", "type": "synonym" } ], "gene_names": [ { "name": "Ube2b", "type": "recommended" }, { "name": "HR6B", "type": "synonym" }, { "name": "Rad6b", "type": "synonym" }, { "name": "Ube2b", "type": "synonym" } ], "record_id": "P63149-1", "evidence": [ { "id": "0050888", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050888" } ] }, { "uniprot_canonical_ac": "A0A0G2JU09-1", "uniprot_ac": "A0A0G2JU09", "uniprot_id": "A0A0G2JU09_RAT", "refseq_ac": "XP_063127443", "glycoprotein": "yes", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "E1A-binding protein p400", "type": "recommended" }, { "name": "Domino homolog", "type": "synonym" }, { "name": "E1A-binding protein p400 isoform X3", "type": "synonym" }, { "name": "p400 kDa SWI2/SNF2-related protein", "type": "synonym" } ], "gene_names": [ { "name": "Ep400", "type": "recommended" }, { "name": "Ep400", "type": "synonym" } ], "record_id": "A0A0G2JU09-1", "evidence": [ { "id": "0050888", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050888" } ] }, { "uniprot_canonical_ac": "A0A0G2K6V2-1", "uniprot_ac": "A0A0G2K6V2", "uniprot_id": "A0A0G2K6V2_RAT", "refseq_ac": "XP_063136662", "glycoprotein": "no", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "[histone H3]-trimethyl-L-lysine(4) demethylase", "type": "recommended" }, { "name": "1.14.11.67", "type": "synonym" }, { "name": "lysine demethylase 5D isoform X1", "type": "synonym" } ], "gene_names": [ { "name": "Kdm5d", "type": "recommended" }, { "name": "Jarid1d", "type": "synonym" }, { "name": "Kdm5d", "type": "synonym" } ], "record_id": "A0A0G2K6V2-1", "evidence": [ { "id": "0050888", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050888" } ] }, { "uniprot_canonical_ac": "A0A096MJZ8-1", "uniprot_ac": "A0A096MJZ8", "uniprot_id": "A0A096MJZ8_RAT", "refseq_ac": "NP_001264106", "glycoprotein": "no", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "Lysine-specific demethylase 5A", "type": "recommended" }, { "name": "1.14.11.67", "type": "synonym" }, { "name": "Histone demethylase JARID1A", "type": "synonym" }, { "name": "Jumonji/ARID domain-containing protein 1A", "type": "synonym" }, { "name": "Retinoblastoma-binding protein 2", "type": "synonym" }, { "name": "[histone H3]-trimethyl-L-lysine(4) demethylase 5A", "type": "synonym" }, { "name": "jumonji, AT rich interactive domain 1A (Rbp2 like)", "type": "synonym" }, { "name": "lysine (K)-specific demethylase 5A", "type": "synonym" }, { "name": "lysine-specific demethylase 5A isoform 1", "type": "synonym" }, { "name": "lysine-specific demethylase 5A", "type": "synonym" } ], "gene_names": [ { "name": "Kdm5a", "type": "recommended" }, { "name": "Jarid1a", "type": "synonym" }, { "name": "Kdm5a", "type": "synonym" } ], "record_id": "A0A096MJZ8-1", "evidence": [ { "id": "0050888", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050888" } ] }, { "uniprot_canonical_ac": "A0ABK0LYB6-1", "uniprot_ac": "A0ABK0LYB6", "uniprot_id": "A0ABK0LYB6_RAT", "refseq_ac": "NP_001406701", "glycoprotein": "no", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "Lysine-specific demethylase 5C", "type": "recommended" }, { "name": "1.14.11.67", "type": "synonym" }, { "name": "Histone demethylase JARID1C", "type": "synonym" }, { "name": "Jumonji/ARID domain-containing protein 1C", "type": "synonym" }, { "name": "Protein SmcX", "type": "synonym" }, { "name": "Protein Xe169", "type": "synonym" }, { "name": "[histone H3]-trimethyl-L-lysine(4) demethylase 5C", "type": "synonym" }, { "name": "lysine (K)-specific demethylase 5C", "type": "synonym" }, { "name": "lysine-specific demethylase 5C", "type": "synonym" } ], "gene_names": [ { "name": "Kdm5c", "type": "recommended" }, { "name": "Kdm5c", "type": "synonym" }, { "name": "RGD1560601", "type": "synonym" } ], "record_id": "A0ABK0LYB6-1", "evidence": [ { "id": "0050888", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050888" } ] }, { "uniprot_canonical_ac": "F7EWP1-1", "uniprot_ac": "F7EWP1", "uniprot_id": "F7EWP1_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": "E2 ubiquitin-conjugating enzyme", "type": "recommended" }, 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"https://www.alliancegenome.org/disease/DOID:0050888" } ] }, { "uniprot_canonical_ac": "A0A8I5XZV4-1", "uniprot_ac": "A0A8I5XZV4", "uniprot_id": "A0A8I5XZV4_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": "Zinc finger, MYND-type containing 8", "type": "synonym" } ], "gene_names": [ { "name": "Zmynd8", "type": "recommended" } ], "record_id": "A0A8I5XZV4-1", "evidence": [ { "id": "0050888", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050888" } ] }, { "uniprot_canonical_ac": "D3ZXY2-1", "uniprot_ac": "D3ZXY2", "uniprot_id": "D3ZXY2_RAT", "refseq_ac": "NP_001100916", "glycoprotein": "no", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "PDZ domain-containing protein 8", "type": "recommended" }, { "name": "PDZ domain-containing protein 8", "type": "synonym" } ], "gene_names": [ { "name": "Pdzd8", "type": "recommended" }, { "name": "Pdzd8", "type": "synonym" }, { "name": "Pdzk8", "type": "synonym" } ], "record_id": "D3ZXY2-1", "evidence": [ { "id": "0050888", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050888" } ] }, { "uniprot_canonical_ac": "Q63569-1", "uniprot_ac": "Q63569", "uniprot_id": "PRS6A_RAT", "refseq_ac": "NP_113783", "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 6A", "type": "recommended" }, { "name": "26S protease regulatory subunit 6A", "type": "synonym" }, { "name": "26S proteasome AAA-ATPase subunit RPT5", "type": "synonym" }, { "name": "26S proteasome regulatory subunit 6A", "type": "synonym" }, { "name": "Proteasome 26S subunit ATPase 3", "type": "synonym" }, { "name": "Spermatogenic cell/sperm-associated Tat-binding protein homolog SATA", "type": "synonym" }, { "name": "TAT-binding protein 1", "type": "synonym" }, { "name": "TBP-1", "type": "synonym" }, { "name": "Tat-binding protein 1", "type": "synonym" }, { "name": "proteasome (prosome, macropain) 26S subunit, ATPase 3", "type": "synonym" }, { "name": "spermatogenic cell/sperm-associated TAT-binding protein homolog SATA", "type": "synonym" } ], "gene_names": [ { "name": "Psmc3", "type": "recommended" }, { "name": "Psmc3", "type": "synonym" }, { "name": "Tbp1", "type": "synonym" } ], "record_id": "Q63569-1", "evidence": [ { "id": "0050888", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050888" } ] }, { "uniprot_canonical_ac": "A0A0G2K3N6-1", "uniprot_ac": "A0A0G2K3N6", "uniprot_id": "A0A0G2K3N6_RAT", "refseq_ac": "XP_063128368", "glycoprotein": "no", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "Lysine-specific demethylase 5B", "type": "recommended" }, { "name": "1.14.11.67", "type": "synonym" }, { "name": "Histone demethylase JARID1B", "type": "synonym" }, { "name": "Jumonji/ARID domain-containing protein 1B", "type": "synonym" }, { "name": "PLU-1", "type": "synonym" }, { "name": "[histone H3]-trimethyl-L-lysine(4) demethylase 5B", "type": "synonym" }, { "name": "lysine-specific demethylase 5B isoform X1", "type": "synonym" } ], "gene_names": [ { "name": "Kdm5b", "type": "recommended" }, { "name": "Jarid1b", "type": "synonym" }, { "name": "Kdm5b", "type": "synonym" }, { "name": "RGD1565602", "type": "synonym" } ], "record_id": "A0A0G2K3N6-1", "evidence": [ { "id": "0050888", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050888" } ] }, { "uniprot_canonical_ac": "A0A8I6G1L6-1", "uniprot_ac": 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"gene_names": [ { "name": "Dot1l", "type": "recommended" }, { "name": "Dot1l", "type": "synonym" } ], "record_id": "A0A8I5ZRT2-1", "evidence": [ { "id": "0050888", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050888" } ] }, { "uniprot_canonical_ac": "P60517-1", "uniprot_ac": "P60517", "uniprot_id": "GBRAP_RAT", "refseq_ac": "NP_742033", "glycoprotein": "yes", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "Gamma-aminobutyric acid receptor-associated protein", "type": "recommended" }, { "name": "GABA(A) receptor-associated protein", "type": "synonym" }, { "name": "gamma-aminobutyric acid receptor-associated protein", "type": "synonym" } ], "gene_names": [ { "name": "Gabarap", "type": "recommended" }, { "name": "Gabarap", "type": "synonym" } ], "record_id": "P60517-1", "evidence": [ { "id": "0050888", "database": "AGR", 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15", "type": "recommended" }, { "name": "Basic helix-loop-helix transcription factor (bHlH)", "type": "synonym" }, { "name": "Class B basic helix-loop-helix protein 8", "type": "synonym" }, { "name": "MIST-1", "type": "synonym" }, { "name": "Muscle, intestine and stomach expression 1", "type": "synonym" }, { "name": "bHLHa15", "type": "synonym" }, { "name": "bHLHb8", "type": "synonym" }, { "name": "basic helix-loop-helix domain containing, class B, 8", "type": "synonym" }, { "name": "class A basic helix-loop-helix protein 15", "type": "synonym" }, { "name": "class B basic helix-loop-helix protein 8", "type": "synonym" }, { "name": "muscle, intestine and stomach expression 1", "type": "synonym" } ], "gene_names": [ { "name": "Bhlha15", "type": "recommended" }, { "name": "Bhlha15", "type": "synonym" }, { "name": "Bhlhb8", "type": "synonym" }, { "name": "Mist1", "type": "synonym" }, { "name": "bHlH", "type": "synonym" } ], "record_id": "P70562-1", "evidence": [ { "id": "0050888", 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"Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "Trafficking protein particle complex subunit", "type": "recommended" }, { "name": "CG9298-PA", "type": "synonym" }, { "name": "TRAPP subunit 23 ortholog", "type": "synonym" }, { "name": "TRAPP subunit 23", "type": "synonym" }, { "name": "Trs23-PA", "type": "synonym" } ], "gene_names": [ { "name": "Trs23", "type": "recommended" }, { "name": "CG9298", "type": "synonym" }, { "name": "Dmel\\CG9298", "type": "synonym" }, { "name": "Dmel_CG9298", "type": "synonym" }, { "name": "TRAPPC4", "type": "synonym" }, { "name": "TRS23", "type": "synonym" }, { "name": "Trs23p", "type": "synonym" }, { "name": "Trs23", "type": "synonym" } ], "record_id": "Q9VLI9-1", "evidence": [ { "id": "0050888", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050888" } ] }, { "uniprot_canonical_ac": "Q9VF82-1", "uniprot_ac": "Q9VF82", "uniprot_id": "Q9VF82_DROME", "refseq_ac": "NP_650450", "glycoprotein": "no", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "Trafficking protein particle complex subunit 6B", "type": "recommended" }, { "name": "CG6196-PA", "type": "synonym" }, { "name": "TRAPP subunit 33 ortholog", "type": "synonym" }, { "name": "TRAPP subunit 33", "type": "synonym" }, { "name": "Trs33-PA", "type": "synonym" } ], "gene_names": [ { "name": "Trs33", "type": "recommended" }, { "name": "BcDNA:RH37427", "type": "synonym" }, { "name": "CG6196", "type": "synonym" }, { "name": "Dmel\\CG6196", "type": "synonym" }, { "name": "Dmel_CG6196", "type": "synonym" }, { "name": "TRAPPC6", "type": "synonym" }, { "name": "Trs33p", "type": "synonym" }, { "name": "Trs33", "type": "synonym" }, { "name": "dTrs33", "type": "synonym" } ], "record_id": "Q9VF82-1", "evidence": [ { "id": "0050888", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050888" } ] }, { "uniprot_canonical_ac": "Q9W3Y6-1", "uniprot_ac": "Q9W3Y6", "uniprot_id": "Q9W3Y6_DROME", "refseq_ac": "NP_572329", "glycoprotein": "yes", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "APC7-PA", "type": "synonym" }, { "name": "Anaphase promoting complex subunit 7, isoform A", "type": "synonym" }, { "name": "CG14444-PA", "type": "synonym" }, { "name": "anaphase promoting complex 7", "type": "synonym" }, { "name": "anaphase promoting complex subunit 7, isoform A", "type": "synonym" } ], "gene_names": [ { "name": "APC7", "type": "recommended" }, { "name": "APC7", "type": "synonym" }, { "name": "Apc7", "type": "synonym" }, { "name": "CG14444", "type": "synonym" }, { "name": "Dmel\\CG14444", "type": "synonym" }, { "name": "Dmel_CG14444", "type": "synonym" } ], "record_id": "Q9W3Y6-1", "evidence": [ { "id": "0050888", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050888" } ] }, { "uniprot_canonical_ac": "X2JDY8-1", "uniprot_ac": "X2JDY8", "uniprot_id": "RHGF_DROME", "refseq_ac": "NP_573070", "glycoprotein": "no", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "Rho GTPase-activating protein Graf", "type": "recommended" }, { "name": "CG8948-PA", "type": "synonym" }, { "name": "GRAF ortholog", "type": "synonym" }, { "name": "GTPase regulator associated with FAK, isoform A", "type": "synonym" }, { "name": "GTPase regulator associated with focal adhesion kinase ortholog", "type": "synonym" }, { "name": "GTPase regulator associated with focal adhesion kinase", "type": "synonym" }, { "name": "Graf-PA", "type": "synonym" } ], "gene_names": [ { "name": "Graf", "type": "recommended" }, { "name": "CG8948", "type": "synonym" }, { "name": "D-Graf", "type": "synonym" }, { "name": "Dmel\\CG8948", "type": "synonym" }, { "name": "Graf", "type": "synonym" }, { "name": "Q9VXQ2_DROME", "type": "synonym" }, { "name": "graf", "type": "synonym" } ], "record_id": "X2JDY8-1", "evidence": [ { "id": "0050888", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050888" } ] }, { "uniprot_canonical_ac": "Q7JVP4-1", "uniprot_ac": "Q7JVP4", "uniprot_id": "BRDH_DROME", "refseq_ac": "NP_001286155", "glycoprotein": "yes", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "Bromodomain-containing protein homolog", "type": "recommended" }, { "name": "Br140-PB", "type": "synonym" }, { "name": "Bromodomain-containing protein, 140kD, isoform B", "type": "synonym" }, { "name": "CG1845-PB", "type": "synonym" }, { "name": "Protein Br140", "type": "synonym" } ], "gene_names": [ { "name": "Br140", "type": "recommended" }, { "name": "Br140", "type": "synonym" }, { "name": "CG1845", "type": "synonym" }, { "name": "Dmel\\CG1845", "type": "synonym" } ], "record_id": "Q7JVP4-1", "evidence": [ { "id": "0050888", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050888" } ] }, { "uniprot_canonical_ac": "Q8IPS4-1", "uniprot_ac": "Q8IPS4", "uniprot_id": "Q8IPS4_DROME", "refseq_ac": "NP_730761", "glycoprotein": "no", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "SAM-dependent MTase RsmB/NOP-type domain-containing protein", "type": "recommended" }, { "name": "CG11109-PB", "type": "synonym" }, { "name": "uncharacterized protein, isoform B", "type": "synonym" } ], "gene_names": [ { "name": "Nsun6", "type": "recommended" }, { "name": "CG11109", "type": "synonym" }, { "name": "CT31087", "type": "synonym" }, { "name": "Dmel\\CG11109", "type": "synonym" }, { "name": "Dmel_CG11109", "type": "synonym" } ], "record_id": "Q8IPS4-1", "evidence": [ { "id": "0050888", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050888" } ] }, { "uniprot_canonical_ac": "P42124-1", "uniprot_ac": "P42124", "uniprot_id": "EZ_DROME", "refseq_ac": "NP_001137932", "glycoprotein": "no", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "Histone-lysine N-methyltransferase E(z)", "type": "recommended" }, { "name": "2.1.1.356", "type": "synonym" }, { "name": "CG6502-PB", "type": "synonym" }, { "name": "E(z)-PB", "type": "synonym" }, { "name": "Lysine N-methyltransferase 6", "type": "synonym" }, { "name": "Protein enhancer of zeste", "type": "synonym" }, { "name": "enhancer of zeste, isoform B", "type": "synonym" }, { "name": "enhancer of zeste", "type": "synonym" }, { "name": "enhancer of zest", "type": "synonym" }, { "name": "enhancer-of-zeste", "type": "synonym" }, { "name": "polycombeotic", "type": "synonym" } ], "gene_names": [ { "name": "E(z)", "type": "recommended" }, { "name": "2", "type": "synonym" }, { "name": "CG6502", "type": "synonym" }, { "name": "Dmel\\CG6502", "type": "synonym" }, { "name": "Dmel_CG6502", "type": "synonym" }, { "name": "E(Z)", "type": "synonym" }, { "name": "E(z)1", "type": "synonym" }, { "name": "E(z)", "type": "synonym" }, { "name": "EZH1/2", "type": "synonym" }, { "name": "EZH2", "type": "synonym" }, { "name": "EZ", "type": "synonym" }, { "name": "E[z]", "type": "synonym" }, { "name": "Ezh2", "type": "synonym" }, { "name": "Ez", "type": "synonym" }, { "name": "KMT6", "type": "synonym" }, { "name": "Su(z)301", "type": "synonym" }, { "name": "dE(z)", "type": "synonym" }, { "name": "l(3)1902", "type": "synonym" }, { "name": "l(3)67Fa", "type": "synonym" }, { "name": "l(3)B12", "type": "synonym" }, { "name": "l(3)SG17", "type": "synonym" }, { "name": "l(3)ds12", "type": "synonym" }, { "name": "pco/E(z)", "type": "synonym" }, { "name": "pco", "type": "synonym" } ], "record_id": "P42124-1", "evidence": [ { "id": "0050888", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050888" } ] }, { "uniprot_canonical_ac": "Q9NGC3-1", "uniprot_ac": "Q9NGC3", "uniprot_id": "CEG1A_DROME", "refseq_ac": "NP_523562", "glycoprotein": "no", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "Centaurin-gamma-1A", "type": "recommended" }, { "name": "CG31811-PA", "type": "synonym" }, { "name": "CenG1A-PA", "type": "synonym" }, { "name": "centaurin gamma 1A, isoform A", "type": "synonym" }, { "name": "centaurin gamma 1A", "type": "synonym" }, { "name": "centaurin gamma-1A", "type": "synonym" } ], "gene_names": [ { "name": "CenG1A", "type": "recommended" }, { "name": "AGAP", "type": "synonym" }, { "name": "BG:DS08220.1", "type": "synonym" }, { "name": "CG16866", "type": "synonym" }, { "name": "CG16867", "type": "synonym" }, { "name": "CG31811", "type": "synonym" }, { "name": "CG7982", "type": "synonym" }, { "name": "CenG1A", "type": "synonym" }, { "name": "CenG1a", "type": "synonym" }, { "name": "Dmel\\CG31811", "type": "synonym" }, { "name": "cenG1A", "type": "synonym" }, { "name": "cenG1a", "type": "synonym" }, { "name": "cenG", "type": "synonym" }, { "name": "ceng1A", "type": "synonym" } ], "record_id": "Q9NGC3-1", "evidence": [ { "id": "0050888", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050888" } ] }, { "uniprot_canonical_ac": "Q9W3M8-1", "uniprot_ac": "Q9W3M8", "uniprot_id": "Q9W3M8_DROME", "refseq_ac": "NP_572423", "glycoprotein": "no", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "2.3.1.225", "type": "synonym" }, { "name": "CG1515-PA", "type": "synonym" }, { "name": "YKT6 ortholog", "type": "synonym" }, { "name": "YKT6 v-SNARE", "type": "synonym" }, { "name": "Ykt6-PA", "type": "synonym" }, { "name": "lethal (1) G0155", "type": "synonym" } ], "gene_names": [ { "name": "Ykt6", "type": "recommended" }, { "name": "CG1515", "type": "synonym" }, { "name": "Dmel\\CG1515", "type": "synonym" }, { "name": "Dmel_CG1515", "type": "synonym" }, { "name": "YKT6", "type": "synonym" }, { "name": "Ykt6p", "type": "synonym" }, { "name": "Ykt6", "type": "synonym" }, { "name": "cg1515", "type": "synonym" }, { "name": "l(1)G0155", "type": "synonym" } ], "record_id": "Q9W3M8-1", "evidence": [ { "id": "0050888", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050888" } ] }, { "uniprot_canonical_ac": "Q9VYS3-1", "uniprot_ac": "Q9VYS3", "uniprot_id": "RENT1_DROME", "refseq_ac": "NP_001285145", "glycoprotein": "yes", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "Regulator of nonsense transcripts 1 homolog", "type": "recommended" }, { "name": "5.6.2.3", "type": "synonym" }, { "name": "5.6.2.5", "type": "synonym" }, { "name": "CG1559-PB", "type": "synonym" }, { "name": "Double-stranded nucleic acid 5'-3' helicase Upf1", "type": "synonym" }, { "name": "Upf1 RNA helicase, isoform B", "type": "synonym" }, { "name": "Upf1-PB", "type": "synonym" }, { "name": "up-frameshift suppressor 1", "type": "synonym" } ], "gene_names": [ { "name": "Upf1", "type": "recommended" }, { "name": "CG1559", "type": "synonym" }, { "name": "Dm-Upf1", "type": "synonym" }, { "name": "DmUpf1", "type": "synonym" }, { "name": "Dmel\\CG1559", "type": "synonym" }, { "name": "Dmel_CG1559", "type": "synonym" }, { "name": "UPF1", "type": "synonym" }, { "name": "Upf1p", "type": "synonym" }, { "name": "Upf1", "type": "synonym" }, { "name": "dUPF1", "type": "synonym" }, { "name": "smg-2", "type": "synonym" }, { "name": "upf1", "type": "synonym" } ], "record_id": "Q9VYS3-1", "evidence": [ { "id": "0050888", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050888" } ] }, { "uniprot_canonical_ac": "A1ZA77-1", "uniprot_ac": "A1ZA77", "uniprot_id": "TM208_DROME", "refseq_ac": "NP_611072", "glycoprotein": "no", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "Transmembrane protein 208", "type": "recommended" }, { "name": "CG8320-PA", "type": "synonym" }, { "name": "uncharacterized protein", "type": "synonym" } ], "gene_names": [ { "name": "Tmem208", "type": "recommended" }, { "name": "CG8320", "type": "synonym" }, { "name": "Dmel\\CG8320", "type": "synonym" } ], "record_id": "A1ZA77-1", "evidence": [ { "id": "0050888", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050888" } ] }, { "uniprot_canonical_ac": "P49657-1", "uniprot_ac": "P49657", "uniprot_id": "MNB_DROME", "refseq_ac": "NP_001014750", "glycoprotein": "yes", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "Serine/threonine-protein kinase minibrain", "type": "recommended" }, { "name": "2.7.12.1", "type": "synonym" }, { "name": "CG42273-PG", "type": "synonym" }, { "name": "Dual-specificity tyrosine phosphorylation-regulated kinase 1A", "type": "synonym" }, { "name": "minibrain kinase", "type": "synonym" }, { "name": "minibrain, isoform G", "type": "synonym" }, { "name": "minibrain", "type": "synonym" }, { "name": "mnb-PG", "type": "synonym" } ], "gene_names": [ { "name": "mnb", "type": "recommended" }, { "name": "CG42273", "type": "synonym" }, { "name": "CG7826", "type": "synonym" }, { "name": "CG7835", "type": "synonym" }, { "name": "DYRK1A", "type": "synonym" }, { "name": "DYRK1", "type": "synonym" }, { "name": "Dm1", "type": "synonym" }, { "name": "DmDyrk1A", "type": "synonym" }, { "name": "Dmel\\CG42273", "type": "synonym" }, { "name": "Dmel_CG42273", "type": "synonym" }, { "name": "Dyrk1A", "type": "synonym" }, { "name": "Dyrk1a", "type": "synonym" }, { "name": "Dyrk1", "type": "synonym" }, { "name": "ME-IV", "type": "synonym" }, { "name": "MNB", "type": "synonym" }, { "name": "Minibrain", "type": "synonym" }, { "name": "Mnb", "type": "synonym" }, { "name": "min", "type": "synonym" }, { "name": "mnb", "type": "synonym" } ], "record_id": "P49657-1", "evidence": [ { "id": "0050888", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050888" } ] }, { "uniprot_canonical_ac": "Q9VDY5-1", "uniprot_ac": "Q9VDY5", "uniprot_id": "Q9VDY5_DROME", "refseq_ac": "NP_650795", "glycoprotein": "yes", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "CG5237-PC", "type": "synonym" }, { "name": "Uncoordinated 79, isoform C", "type": "synonym" }, { "name": "unc79-PC", "type": "synonym" }, { "name": "uncoordinated 79, isoform C", "type": "synonym" } ], "gene_names": [ { "name": "unc79", "type": "recommended" }, { "name": "CG5237", "type": "synonym" }, { "name": "DUNC79", "type": "synonym" }, { "name": "Dmel\\CG5237", "type": "synonym" }, { "name": "Dmel_CG5237", "type": "synonym" }, { "name": "Dunc79", "type": "synonym" }, { "name": "UNC79", "type": "synonym" }, { "name": "anon-WO0153538.74", "type": "synonym" }, { "name": "anon-WO0172774.15", "type": "synonym" }, { "name": "dunc79", "type": "synonym" }, { "name": "unc79", "type": "synonym" } ], "record_id": "Q9VDY5-1", "evidence": [ { "id": "0050888", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050888" } ] }, { "uniprot_canonical_ac": "Q9VMJ7-1", "uniprot_ac": "Q9VMJ7", "uniprot_id": "KDM5_DROME", "refseq_ac": "NP_001245908", "glycoprotein": "yes", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "Lysine-specific demethylase 5", "type": "recommended" }, { "name": "1.14.11.67", "type": "synonym" }, { "name": "CG9088-PC", "type": "synonym" }, { "name": "Histone demethylase lid", "type": "synonym" }, { "name": "Jumonji/ARID domain-containing protein lid", "type": "synonym" }, { "name": "Kdm5-PC", "type": "synonym" }, { "name": "Protein little imaginal disks", "type": "synonym" }, { "name": "Retinoblastoma-binding protein 2 homolog", "type": "synonym" }, { "name": "[histone H3]-trimethyl-L-lysine(4) demethylase Kdm5", "type": "synonym" }, { "name": "lid", "type": "synonym" }, { "name": "little imaginal discs", "type": "synonym" }, { "name": "little imaginal disks", "type": "synonym" }, { "name": "lysine demethylase 5, isoform C", "type": "synonym" } ], "gene_names": [ { "name": "Kdm5", "type": "recommended" }, { "name": "CG9088", "type": "synonym" }, { "name": "Dmel\\CG9088", "type": "synonym" }, { "name": "Dmel_CG9088", "type": "synonym" }, { "name": "KDM5", "type": "synonym" }, { "name": "Kdm5", "type": "synonym" }, { "name": "LID", "type": "synonym" }, { "name": "Lid/KDM5", "type": "synonym" }, { "name": "Lid", "type": "synonym" }, { "name": "dJARID1", "type": "synonym" }, { "name": "dKDM5/LID", "type": "synonym" }, { "name": "dKDM5", "type": "synonym" }, { "name": "kdm5", "type": "synonym" }, { "name": "l(2)10424", "type": "synonym" }, { "name": "lid", "type": "synonym" } ], "record_id": "Q9VMJ7-1", "evidence": [ { "id": "0050888", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050888" } ] }, { "uniprot_canonical_ac": "P25153-1", "uniprot_ac": "P25153", "uniprot_id": "UBCD6_DROME", "refseq_ac": "NP_001246916", "glycoprotein": "no", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "Ubiquitin-conjugating enzyme E2-17 kDa", "type": "recommended" }, { "name": "2.3.2.23", "type": "synonym" }, { "name": "CG2013-PC", "type": "synonym" }, { "name": "E2 ubiquitin-conjugating enzyme 6", "type": "synonym" }, { "name": "RAD6 homolog", "type": "synonym" }, { "name": "Ubc6-PC", "type": "synonym" }, { "name": "Ubiquitin carrier protein", "type": "synonym" }, { "name": "Ubiquitin-protein ligase", "type": "synonym" }, { "name": "dRad6", "type": "synonym" }, { "name": "ubiquitin conjugating enzyme 6, isoform C", "type": "synonym" }, { "name": "ubiquitin conjugating enzyme", "type": "synonym" } ], "gene_names": [ { "name": "Ubc6", "type": "recommended" }, { "name": "BcDNA:RE56673", "type": "synonym" }, { "name": "CG2013", "type": "synonym" }, { "name": "Dhr6", "type": "synonym" }, { "name": "Dmel\\CG2013", "type": "synonym" }, { "name": "Dmel_CG2013", "type": "synonym" }, { "name": "RAD6", "type": "synonym" }, { "name": "Rad6a", "type": "synonym" }, { "name": "Rad6", "type": "synonym" }, { "name": "UBC6", "type": "synonym" }, { "name": "Ubc6", "type": "synonym" }, { "name": "UbcD6", "type": "synonym" }, { "name": "Ubcd6", "type": "synonym" }, { "name": "dRAD6", "type": "synonym" }, { "name": "dRad6", "type": "synonym" } ], "record_id": "P25153-1", "evidence": [ { "id": "0050888", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050888" } ] }, { "uniprot_canonical_ac": "Q9W2S2-1", "uniprot_ac": "Q9W2S2", "uniprot_id": "Q9W2S2_DROME", "refseq_ac": "NP_727447", "glycoprotein": "yes", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "Atg8a-PA", "type": "synonym" }, { "name": "Autophagy-related 8a, isoform A", "type": "synonym" }, { "name": "Autophagy-specific gene 8a", "type": "synonym" }, { "name": "CG32672-PA", "type": "synonym" }, { "name": "autophagy-related 8 protein", "type": "synonym" }, { "name": "autophagy-related 8a", "type": "synonym" } ], "gene_names": [ { "name": "Atg8a", "type": "recommended" }, { "name": "ATG8/LC3", "type": "synonym" }, { "name": "ATG8A", "type": "synonym" }, { "name": "ATG8a", "type": "synonym" }, { "name": "ATG8", "type": "synonym" }, { "name": "Atg-8a", "type": "synonym" }, { "name": "Atg8/LC3", "type": "synonym" }, { "name": "Atg8A", "type": "synonym" }, { "name": "Atg8alpha", "type": "synonym" }, { "name": "Atg8a", "type": "synonym" }, { "name": "Atg8", "type": "synonym" }, { "name": "BcDNA:LD05816", "type": "synonym" }, { "name": "CG1534", "type": "synonym" }, { "name": "CG32672", "type": "synonym" }, { "name": "DmAtg8a", "type": "synonym" }, { "name": "Dmel\\CG32672", "type": "synonym" }, { "name": "Dmel_CG32672", "type": "synonym" }, { "name": "DrAtg8a", "type": "synonym" }, { "name": "LC3/Atg8", "type": "synonym" }, { "name": "LC3", "type": "synonym" }, { "name": "agt8a", "type": "synonym" }, { "name": "atg8A", "type": "synonym" }, { "name": "atg8a", "type": "synonym" }, { "name": "atg8", "type": "synonym" }, { "name": "dAtg8a", "type": "synonym" }, { "name": "dAtg8", "type": "synonym" } ], "record_id": "Q9W2S2-1", "evidence": [ { "id": "0050888", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050888" } ] }, { "uniprot_canonical_ac": "Q7KRS9-1", "uniprot_ac": "Q7KRS9", "uniprot_id": "ZMYD8_DROME", "refseq_ac": "NP_651881", "glycoprotein": "yes", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "MYND-type zinc finger-containing chromatin reader Zmynd8", "type": "recommended" }, { "name": "CG1815-PC", "type": "synonym" }, { "name": "Zmynd8-PC", "type": "synonym" }, { "name": "zinc finger MYND-type containing 8, isoform C", "type": "synonym" } ], "gene_names": [ { "name": "Zmynd8", "type": "recommended" }, { "name": "CG1815", "type": "synonym" }, { "name": "Dmel\\CG1815", "type": "synonym" }, { "name": "Zmynd8", "type": "synonym" }, { "name": "cg1815", "type": "synonym" } ], "record_id": "Q7KRS9-1", "evidence": [ { "id": "0050888", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050888" } ] }, { "uniprot_canonical_ac": "Q8INR6-1", "uniprot_ac": "Q8INR6", "uniprot_id": "DOT1L_DROME", 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"name": "0732/14", "type": "synonym" }, { "name": "14", "type": "synonym" }, { "name": "BcDNA:SD05230", "type": "synonym" }, { "name": "CG10272", "type": "synonym" }, { "name": "CG33324", "type": "synonym" }, { "name": "CG42803", "type": "synonym" }, { "name": "DOT1L", "type": "synonym" }, { "name": "Dmel\\CG42803", "type": "synonym" }, { "name": "Dmel_CG42803", "type": "synonym" }, { "name": "EN3-1", "type": "synonym" }, { "name": "Gpp", "type": "synonym" }, { "name": "anon-WO0118547.319", "type": "synonym" }, { "name": "dDOT1L", "type": "synonym" }, { "name": "dDot1", "type": "synonym" }, { "name": "gpp", "type": "synonym" }, { "name": "grp", "type": "synonym" }, { "name": "l(3)03342", "type": "synonym" }, { "name": "l(3)S073214b", "type": "synonym" }, { "name": "l(3)sA3484", "type": "synonym" } ], "record_id": "Q8INR6-1", "evidence": [ { "id": "0050888", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050888" } ] }, { "uniprot_canonical_ac": "Q9VT28-1", "uniprot_ac": "Q9VT28", "uniprot_id": "FRY_DROME", "refseq_ac": "NP_729520", "glycoprotein": "yes", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "Protein furry", "type": "recommended" }, { "name": "CG32045-PB", "type": "synonym" }, { "name": "fry-PB", "type": "synonym" }, { "name": "furry, isoform B", "type": "synonym" }, { "name": "furry", "type": "synonym" }, { "name": "suppressor of GMR-sina 3-7", "type": "synonym" } ], "gene_names": [ { "name": "fry", "type": "recommended" }, { "name": "CG14171", "type": "synonym" }, { "name": "CG32045", "type": "synonym" }, { "name": "CG6774", "type": "synonym" }, { "name": "CG6780", "type": "synonym" }, { "name": "Dmel\\CG32045", "type": "synonym" }, { "name": "Dmel_CG32045", "type": "synonym" }, { "name": "Fry", "type": "synonym" }, { "name": "RE-B", "type": "synonym" }, { "name": "SS3-7", "type": "synonym" }, { "name": "fry", "type": "synonym" }, { "name": "l(3)02240", "type": "synonym" }, { "name": "yeti", "type": "synonym" } ], "record_id": "Q9VT28-1", "evidence": [ { "id": "0050888", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050888" } ] }, { "uniprot_canonical_ac": "Q9V3V6-1", "uniprot_ac": "Q9V3V6", "uniprot_id": "Q9V3V6_DROME", "refseq_ac": "NP_524464", "glycoprotein": "no", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "5.6.1.5", "type": "synonym" }, { "name": "CG10370-PA", "type": "synonym" }, { "name": "Regulatory particle triple-A ATPase 5", "type": "synonym" }, { "name": "Rpt5-PA", "type": "synonym" }, { "name": "Tat-binding protein-1", "type": "synonym" }, { "name": "proteasome 26S regulatory subunit 6A", "type": "synonym" }, { "name": "regulatory particle triple-A ATPase 5", "type": "synonym" } ], "gene_names": [ { "name": "Rpt5", "type": "recommended" }, { "name": "BcDNA.GH12068", "type": "synonym" }, { "name": "BcDNA:GH12068", "type": "synonym" }, { "name": "CG10370", "type": "synonym" }, { "name": "DmTBP-1", "type": "synonym" }, { "name": "Dm_Rpt5a", "type": "synonym" }, { "name": "Dm_Rpt5b", "type": "synonym" }, { "name": "Dmel\\CG10370", "type": "synonym" }, { "name": "Dmel_CG10370", "type": "synonym" }, { "name": "Pros26S-RS6A", "type": "synonym" }, { "name": "Pros26S", "type": "synonym" }, { "name": "RPT5", "type": "synonym" }, { "name": "Rpt5", "type": "synonym" }, { "name": "S6'", "type": "synonym" }, { "name": "TBP-1", "type": "synonym" }, { "name": "Tbp-1", "type": "synonym" }, { "name": "Tbp1", "type": "synonym" }, { "name": "anon-WO0153538.10", "type": "synonym" }, { "name": "anon-WO0153538.8", "type": "synonym" }, { "name": "anon-WO0153538.9", "type": "synonym" }, { "name": "dRpt5", "type": "synonym" }, { "name": "l(3)04210", "type": "synonym" }, { "name": "p50", "type": "synonym" }, { "name": "tbp-1", "type": "synonym" } ], "record_id": "Q9V3V6-1", "evidence": [ { "id": "0050888", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050888" } ] }, { "uniprot_canonical_ac": "Q9VYR9-1", "uniprot_ac": "Q9VYR9", "uniprot_id": "PDZD8_DROME", "refseq_ac": "NP_572771", "glycoprotein": "yes", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "PDZ domain-containing protein 8", "type": "recommended" }, { "name": "CG10362-PA", "type": "synonym" }, { "name": "PDZ domain containing 8", "type": "synonym" }, { "name": "Pdzd8-PA", "type": "synonym" } ], "gene_names": [ { "name": "Pdzd8", "type": "recommended" }, { "name": "CG10362", "type": "synonym" }, { "name": "Dmel\\CG10362", "type": "synonym" }, { "name": "Pdzd8", "type": 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"name": "27/4", "type": "synonym" }, { "name": "4", "type": "synonym" }, { "name": "8", "type": "synonym" }, { "name": "CG9696", "type": "synonym" }, { "name": "DOM-A", "type": "synonym" }, { "name": "DOM", "type": "synonym" }, { "name": "Dmel\\CG9696", "type": "synonym" }, { "name": "Dmel_CG9696", "type": "synonym" }, { "name": "DomA", "type": "synonym" }, { "name": "Domino", "type": "synonym" }, { "name": "Dom", "type": "synonym" }, { "name": "anon-WO0172774.190", "type": "synonym" }, { "name": "dDom", "type": "synonym" }, { "name": "dEP400", "type": "synonym" }, { "name": "dom", "type": "synonym" }, { "name": "l(2)81/8", "type": "synonym" }, { "name": "l(2)k02704", "type": "synonym" }, { "name": "l(2)k08108", "type": "synonym" }, { "name": "p400", "type": "synonym" } ], "record_id": "Q9NDJ2-1", "evidence": [ { "id": "0050888", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050888" } ] }, { "uniprot_canonical_ac": "Q9VKJ9-1", "uniprot_ac": "Q9VKJ9", "uniprot_id": "C2D1_DROME", "refseq_ac": "NP_609488", "glycoprotein": "yes", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "Coiled-coil and C2 domain-containing protein 1-like", "type": "recommended" }, { "name": "CG4713-PA", "type": "synonym" }, { "name": "Lethal (2) giant discs 1 protein", "type": "synonym" }, { "name": "l(2)gd1-PA", "type": "synonym" }, { "name": "leathal giant disc", "type": "synonym" }, { "name": "lethal (2) SH0495", "type": "synonym" }, { "name": "lethal (2) giant discs 1, isoform A", "type": "synonym" }, { "name": "lethal (2) giant discs", "type": "synonym" }, { "name": "lethal giant discs", "type": "synonym" }, { "name": "lethal(2) giant discs", "type": "synonym" }, { "name": "lethal(2)giant discs 1", "type": "synonym" } ], "gene_names": [ { "name": "l(2)gd1", "type": "recommended" }, { "name": "CG4713", "type": "synonym" }, { "name": "Dmel\\CG4713", "type": "synonym" }, { "name": "Dmel_CG4713", "type": "synonym" }, { "name": "Lgd", "type": "synonym" }, { "name": "SH495", "type": "synonym" }, { "name": "gd", "type": "synonym" }, { "name": "l(2)SH0495", "type": "synonym" }, { "name": "l(2)SH2 0495", "type": "synonym" }, { "name": "l(2)gd1", "type": "synonym" }, { "name": "l(2)gd", "type": "synonym" }, { "name": "l(2)giant disc", "type": "synonym" }, { "name": "l[[2]]gd", "type": "synonym" }, { "name": "lgd", "type": "synonym" } ], "record_id": "Q9VKJ9-1", "evidence": [ { "id": "0050888", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050888" } ] }, { "uniprot_canonical_ac": "Q7KLV9-1", "uniprot_ac": "Q7KLV9", "uniprot_id": "PSD11_DROME", "refseq_ac": "NP_001246325", "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 non-ATPase regulatory subunit 11", "type": "recommended" }, { "name": "26S proteasome regulatory complex subunit p42B", "type": "synonym" }, { "name": "26S proteasome regulatory subunit Rpn6", "type": "synonym" }, { "name": "CG10149-PC", "type": "synonym" }, { "name": "Rpn6-PC", "type": "synonym" }, { "name": "proteasome p44.5 subunit", "type": "synonym" }, { "name": "regulatory particle non-ATPase 6, isoform C", "type": "synonym" } ], "gene_names": [ { "name": "Rpn6", "type": "recommended" }, { "name": "BcDNA.LD18931", "type": "synonym" }, { "name": "BcDNA:LD18931", "type": "synonym" }, { "name": "CG10149", "type": "synonym" }, { "name": "CG5289", "type": "synonym" }, { "name": "Dmel\\CG10149", "type": "synonym" }, { "name": "Dmel_CG10149", "type": "synonym" }, { "name": "Pros44.5", "type": "synonym" }, { "name": "RPN6", "type": "synonym" }, { "name": "Rpn6", "type": "synonym" }, { "name": "S9", "type": "synonym" }, { "name": 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], "record_id": "P53634-1", "evidence": [ { "id": "0050888", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050888" } ] }, { "uniprot_canonical_ac": "O00231-1", "uniprot_ac": "O00231", "uniprot_id": "PSD11_HUMAN", "refseq_ac": "NP_001257411", "glycoprotein": "yes", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "26S proteasome non-ATPase regulatory subunit 11", "type": "recommended" }, { "name": "26S proteasome non-ATPase regulatory subunit 11", "type": "synonym" }, { "name": "26S proteasome regulatory subunit 9", "type": "synonym" }, { "name": "26S proteasome regulatory subunit RPN6", "type": "synonym" }, { "name": "26S proteasome regulatory subunit S9", "type": "synonym" }, { "name": "26S proteasome regulatory subunit p44.5", "type": "synonym" }, { "name": "proteasome (prosome, macropain) 26S subunit, non-ATPase, 11", "type": 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{ "name": "coiled-coil and C2 domain-containing protein 1B isoform 2", "type": "synonym" }, { "name": "coiled-coil and C2 domain-containing protein 1B", "type": "synonym" }, { "name": "five prime repressor element under dual repression-binding protein 2", "type": "synonym" }, { "name": "freud-2", "type": "synonym" }, { "name": "lethal (2) giant discs homolog 1", "type": "synonym" } ], "gene_names": [ { "name": "CC2D1B", "type": "recommended" }, { "name": "CC2D1B", "type": "synonym" }, { "name": "KIAA1836", "type": "synonym" }, { "name": "LGD1", "type": "synonym" }, { "name": "Lgd1", "type": "synonym" } ], "record_id": "Q5T0F9-1", "evidence": [ { "id": "0050888", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050888" } ] }, { "uniprot_canonical_ac": "Q6P1N0-1", "uniprot_ac": "Q6P1N0", "uniprot_id": "C2D1A_HUMAN", "refseq_ac": "NP_060191", "glycoprotein": "yes", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "Coiled-coil and C2 domain-containing protein 1A", "type": "recommended" }, { "name": "Akt kinase-interacting protein 1", "type": "synonym" }, { "name": "FRE under dual repression-binding protein 1", "type": "synonym" }, { "name": "Five prime repressor element under dual repression-binding protein 1", "type": "synonym" }, { "name": "Freud-1", "type": "synonym" }, { "name": "Putative NF-kappa-B-activating protein 023N", "type": "synonym" }, { "name": "TBK1-associated protein in endolysosomes", "type": "synonym" }, { "name": "coiled-coil and C2 domain-containing protein 1A isoform 1", "type": "synonym" }, { "name": "coiled-coil and C2 domain-containing protein 1A", "type": "synonym" }, { "name": "five prime repressor element under dual repression-binding protein 1", "type": "synonym" }, { "name": "five repressor element under dual repression-binding protein 1", "type": "synonym" }, { "name": "lethal (2) giant discs homolog 2", "type": "synonym" }, { "name": "putative NF-kappa-B-activating protein 023N", "type": "synonym" }, { "name": "putative NFkB activating protein", "type": "synonym" } ], "gene_names": [ { "name": "CC2D1A", "type": "recommended" }, { "name": "AKI1", "type": "synonym" }, { "name": "Aki-1", "type": "synonym" }, { "name": "CC2D1A", "type": "synonym" }, { "name": "FREUD-1", "type": "synonym" }, { "name": "Freud-1/Aki1", "type": "synonym" }, { "name": "LGD2", "type": "synonym" }, { "name": "Lgd2", "type": "synonym" }, { "name": "MRT3", "type": "synonym" }, { "name": "TAPE", "type": "synonym" } ], "record_id": "Q6P1N0-1", "evidence": [ { "id": "0050888", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050888" } ] }, { "uniprot_canonical_ac": "Q9UMS4-1", "uniprot_ac": "Q9UMS4", "uniprot_id": "PRP19_HUMAN", "refseq_ac": "NP_055317", "glycoprotein": "yes", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "Pre-mRNA-processing factor 19", "type": "recommended" }, { "name": "2.3.2.27", "type": "synonym" }, { "name": "Nuclear matrix protein 200", "type": "synonym" }, { "name": "PRP19/PSO4 homolog", "type": "synonym" }, { "name": "PRP19/PSO4 pre-mRNA processing factor 19 homolog", "type": "synonym" }, { "name": "RING-type E3 ubiquitin transferase PRP19", "type": "synonym" }, { "name": "Senescence evasion factor", "type": "synonym" }, { "name": "hPso4", "type": "synonym" }, { "name": "nuclear matrix protein 200", "type": "synonym" }, { "name": "nuclear matrix protein NMP200 related to splicing factor PRP19", "type": "synonym" }, { "name": "pre-mRNA-processing factor 19", "type": "synonym" }, { "name": "psoralen 4", "type": "synonym" }, { "name": "senescence evasion factor", "type": "synonym" } ], "gene_names": [ { "name": "PRPF19", "type": "recommended" }, { "name": "NMP200", "type": "synonym" }, { "name": "PRP19", "type": "synonym" }, { "name": "PRPF19", "type": "synonym" }, { "name": "PSO4", "type": "synonym" }, { "name": "SNEV", "type": "synonym" }, { "name": "UBOX4", "type": "synonym" }, { "name": "hPSO4", "type": "synonym" } ], "record_id": "Q9UMS4-1", "evidence": [ { "id": "0050888", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050888" } ] }, { "uniprot_canonical_ac": "Q9BY66-1", "uniprot_ac": "Q9BY66", "uniprot_id": "KDM5D_HUMAN", "refseq_ac": "NP_001140177", "glycoprotein": "no", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "Lysine-specific demethylase 5D", "type": "recommended" }, { "name": "1.14.11.67", "type": "synonym" }, { "name": "H-Y", "type": "synonym" }, { "name": "Histocompatibility Y antigen", "type": "synonym" }, { "name": "Histone demethylase JARID1D", "type": "synonym" }, { "name": "Jumonji, AT rich interactive 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"type": "synonym" }, { "name": "HY", "type": "synonym" }, { "name": "JARID1D", "type": "synonym" }, { "name": "KDM5D", "type": "synonym" }, { "name": "KIAA0234", "type": "synonym" }, { "name": "SMCY", "type": "synonym" } ], "record_id": "Q9BY66-1", "evidence": [ { "id": "0050888", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050888" } ] }, { "uniprot_canonical_ac": "P17980-1", "uniprot_ac": "P17980", "uniprot_id": "PRS6A_HUMAN", "refseq_ac": "NP_002795", "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 6A", "type": "recommended" }, { "name": "26S protease regulatory subunit 6A", "type": "synonym" }, { "name": "26S proteasome AAA-ATPase subunit RPT5", "type": "synonym" }, { "name": "26S proteasome regulatory subunit 6A", "type": "synonym" }, { "name": "Proteasome 26S subunit ATPase 3", "type": "synonym" }, { "name": "Proteasome subunit P50", "type": "synonym" }, { "name": "TBP-1", "type": "synonym" }, { "name": "Tat-binding protein 1", "type": "synonym" }, { "name": "human immunodeficiency virus tat transactivator binding protein-1", "type": "synonym" }, { "name": "proteasome (prosome, macropain) 26S subunit, ATPase, 3", "type": "synonym" }, { "name": "proteasome subunit P50", "type": "synonym" }, { "name": "testicular secretory protein Li 42", "type": "synonym" } ], "gene_names": [ { "name": "PSMC3", "type": "recommended" }, { "name": "DCIDP", "type": "synonym" }, { "name": "EBNDS", "type": "synonym" }, { "name": "PSMC3", "type": "synonym" }, { "name": "RPT5", "type": "synonym" }, { "name": "TBP1", "type": "synonym" } ], "record_id": "P17980-1", "evidence": [ { "id": "0050888", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050888" } ] }, { "uniprot_canonical_ac": "Q96L91-1", "uniprot_ac": "Q96L91", "uniprot_id": "EP400_HUMAN", "refseq_ac": "NP_056224", "glycoprotein": "yes", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "E1A-binding protein p400", "type": "recommended" }, { "name": "3.6.4.-", "type": "synonym" }, { "name": "CAG repeat protein 32", "type": "synonym" }, { "name": "Domino homolog", "type": "synonym" }, { "name": "E1A-binding protein p400", "type": "synonym" }, { "name": "Trinucleotide repeat-containing gene 12 protein", "type": "synonym" }, { "name": "domino homolog", "type": "synonym" }, { "name": "hDomino(p400)", "type": "synonym" }, { "name": "hDomino", "type": "synonym" }, { "name": "p400 SWI2/SNF2-related protein", "type": "synonym" }, { "name": "p400 kDa SWI2/SNF2-related protein", "type": "synonym" }, { "name": "trinucleotide repeat containing 12", "type": "synonym" }, { "name": "trinucleotide repeat-containing gene 12 protein", "type": "synonym" } ], 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}, { "name": "furry-like", "type": "synonym" }, { "name": "mor2 cell polarity protein homolog", "type": "synonym" }, { "name": "protein furry homolog-like", "type": "synonym" } ], "gene_names": [ { "name": "FRYL", "type": "recommended" }, { "name": "AF4P12", "type": "synonym" }, { "name": "AF4p12", "type": "synonym" }, { "name": "FRYL", "type": "synonym" }, { "name": "KIAA0826", "type": "synonym" }, { "name": "MOR2", "type": "synonym" }, { "name": "PCBS", "type": "synonym" } ], "record_id": "O94915-1", "evidence": [ { "id": "0050888", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050888" } ] }, { "uniprot_canonical_ac": "Q9ULU4-1", "uniprot_ac": "Q9ULU4", "uniprot_id": "ZMYD8_HUMAN", "refseq_ac": "NP_001268700", "glycoprotein": "yes", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "MYND-type zinc finger-containing chromatin reader ZMYND8", "type": "recommended" }, { "name": "CTCL tumor antigen se14-3", "type": "synonym" }, { "name": "CTCL-associated antigen se14-3", "type": "synonym" }, { "name": "Cutaneous T-cell lymphoma-associated antigen se14-3", "type": "synonym" }, { "name": "MYND-type zinc finger-containing chromatin reader ZMYND8 isoform e", "type": "synonym" }, { "name": "MYND-type zinc finger-containing chromatin reader ZMYND8", "type": "synonym" }, { "name": "Protein kinase C-binding protein 1", "type": "synonym" }, { "name": "RACK like clone 7", "type": "synonym" }, { "name": "Rack7", "type": "synonym" }, { "name": "Transcription coregulator ZMYND8", "type": "synonym" }, { "name": "Zinc finger MYND domain-containing protein 8", "type": "synonym" }, { "name": "cutaneous T-cell lymphoma-associated antigen se14-3", "type": "synonym" }, { "name": "predicted protein of HQ2893", "type": "synonym" }, { "name": "protein kinase C-binding protein 1", "type": "synonym" }, { "name": "transcription coregulator ZMYND8", "type": "synonym" }, { "name": "zinc finger MYND domain-containing protein 8", "type": "synonym" } ], "gene_names": [ { "name": "ZMYND8", "type": "recommended" }, { "name": "KIAA1125", "type": "synonym" }, { "name": "PRKCBP1", "type": "synonym" }, { "name": "PRO2893", "type": "synonym" }, { "name": "RACK7", "type": "synonym" }, { "name": "ZMYND8", "type": "synonym" } ], "record_id": "Q9ULU4-1", "evidence": [ { "id": "0050888", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050888" } ] }, { "uniprot_canonical_ac": "P41229-1", "uniprot_ac": "P41229", "uniprot_id": "KDM5C_HUMAN", "refseq_ac": "NP_001140174", "glycoprotein": "yes", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "Lysine-specific demethylase 5C", "type": "recommended" }, { "name": "1.14.11.67", "type": "synonym" }, { "name": "Histone demethylase JARID1C", "type": "synonym" }, { "name": "JmjC domain-containing protein SMCX", "type": "synonym" }, { "name": "Jumonji, AT rich interactive domain 1C (RBP2-like)", "type": "synonym" }, { "name": "Jumonji/ARID domain-containing protein 1C", "type": "synonym" }, { "name": "Protein SmcX", "type": "synonym" }, { "name": "Protein Xe169", "type": "synonym" }, { "name": "Smcx homolog, X chromosome", "type": "synonym" }, { "name": "Smcy homolog, X-linked", "type": "synonym" }, { "name": "[histone H3]-trimethyl-L-lysine(4) demethylase 5C", "type": "synonym" }, { "name": "histone demethylase JARID1C", "type": "synonym" }, { "name": "lysine (K)-specific demethylase 5C", "type": "synonym" }, { "name": "lysine-specific demethylase 5C isoform 2", "type": "synonym" }, { "name": "lysine-specific demethylase 5C", "type": "synonym" } ], "gene_names": [ { "name": "KDM5C", "type": "recommended" }, { "name": "DXS1272E", "type": "synonym" }, { "name": "JARID1C", "type": "synonym" }, { "name": "KDM5C", "type": "synonym" }, { "name": "MRX13", "type": "synonym" }, { "name": "MRXJ", "type": "synonym" }, { "name": "MRXS16", "type": "synonym" }, { "name": "MRXSCJ", "type": "synonym" }, { "name": "MRXSJ", "type": "synonym" }, { "name": "SMCX", "type": "synonym" }, { "name": "XE169", "type": "synonym" } ], "record_id": "P41229-1", "evidence": [ { "id": "0050888", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050888" } ] }, { "uniprot_canonical_ac": "Q6ZRS2-1", "uniprot_ac": "Q6ZRS2", "uniprot_id": "SRCAP_HUMAN", "refseq_ac": "NP_006653", "glycoprotein": "yes", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "Chromatin remodeling protein SRCAP", "type": "recommended" }, { "name": "3.6.4.-", "type": "synonym" }, { "name": "Domino homolog 2", "type": "synonym" }, { "name": "Snf2-related CBP activator protein", "type": "synonym" }, { "name": "Snf2-related CBP activator", "type": "synonym" }, { "name": "Swi2/Snf2-related ATPase homolog, domino homolog 1", "type": "synonym" }, { "name": "chromatin remodeling protein SRCAP", "type": "synonym" }, { "name": "domino homolog 2", "type": "synonym" }, { "name": "helicase SRCAP", "type": "synonym" } ], "gene_names": [ { "name": "SRCAP", "type": "recommended" }, { "name": "DEHMBA", "type": "synonym" }, { "name": "DOMO1", "type": "synonym" }, { "name": "FLHS", "type": "synonym" }, { "name": "KIAA0309", "type": "synonym" }, { "name": "SRCAP", "type": "synonym" }, { "name": "SWR1", "type": "synonym" } ], "record_id": "Q6ZRS2-1", "evidence": [ { "id": "0050888", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050888" } ] }, { "uniprot_canonical_ac": "P63146-1", "uniprot_ac": "P63146", "uniprot_id": "UBE2B_HUMAN", "refseq_ac": "NP_003328", "glycoprotein": "no", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", 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"Anaphase-promoting complex subunit 7", "type": "recommended" }, { "name": "APC7", "type": "synonym" }, { "name": "Cyclosome subunit 7", "type": "synonym" }, { "name": "anaphase-promoting complex subunit 7 isoform b", "type": "synonym" }, { "name": "cyclosome subunit 7", "type": "synonym" } ], "gene_names": [ { "name": "ANAPC7", "type": "recommended" }, { "name": "ANAPC7", "type": "synonym" }, { "name": "APC7", "type": "synonym" }, { "name": "FERBON", "type": "synonym" } ], "record_id": "Q9UJX3-1", "evidence": [ { "id": "0050888", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050888" } ] }, { "uniprot_canonical_ac": "O60890-1", "uniprot_ac": "O60890", "uniprot_id": "OPHN1_HUMAN", "refseq_ac": "NP_002538", "glycoprotein": "yes", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "Oligophrenin-1", "type": "recommended" }, { "name": "oligophrenin-1 isoform 1", "type": "synonym" }, { "name": "oligophrenin-1, Rho-GTPase activating protein", "type": "synonym" } ], "gene_names": [ { "name": "OPHN1", "type": "recommended" }, { "name": "ARHGAP41", "type": "synonym" }, { "name": "MRX60", "type": "synonym" }, { "name": "MRXSBL", "type": "synonym" }, { "name": "OPHN1", "type": "synonym" }, { "name": "OPN1", "type": "synonym" } ], "record_id": "O60890-1", "evidence": [ { "id": "0050888", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050888" } ] }, { "uniprot_canonical_ac": "P55201-1", "uniprot_ac": "P55201", "uniprot_id": "BRPF1_HUMAN", "refseq_ac": "NP_001003694", "glycoprotein": "yes", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "Peregrin", "type": "recommended" }, { "name": "Bromodomain and PHD finger-containing protein 1", "type": "synonym" }, { "name": "Protein Br140", "type": "synonym" }, { "name": "bromodomain-containing protein, 140kD", "type": "synonym" }, { "name": "peregrin isoform 1", "type": "synonym" }, { "name": "peregrin", "type": "synonym" } ], "gene_names": [ { "name": "BRPF1", "type": "recommended" }, { "name": "BR140", "type": "synonym" }, { "name": "BRPF1", "type": "synonym" }, { "name": "IDDDFP", "type": "synonym" } ], "record_id": "P55201-1", "evidence": [ { "id": "0050888", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050888" } ] } ], "glycans": [], "biomarkers": [], "association_flag": "1000", "record_id": "doid.0050888" }