{ "disease_id": "DOID:0060041", "recommended_name": { "id": "DOID:0060041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0060041", "name": "autism spectrum disorder", "description": "A pervasive developmental disorder that is a spectrum of psychological conditions. The disease has_symptom widespread abnormalities of social interactions and communication, has_symptom severely restricted interests and has_symptom highly repetitive behavior." }, "synonyms": [], "children": [ { "id": "DOID:0050432", "label": "Asperger syndrome", "link_status": true, "children": [] }, { "id": "DOID:12849", "label": "autistic disorder", "link_status": true, "children": [] } ], "id_list": [ "DOID:12849", "DOID:0060041", "DOID:0050432" ], "unlinked_id_list": [], "crossref": [ { "id": "DOID:0060041", "database": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0060041", "categories": [] } ], "proteins": [ { "uniprot_canonical_ac": "A0A0R4IFJ3-1", "uniprot_ac": "A0A0R4IFJ3", "uniprot_id": "A0A0R4IFJ3_DANRE", "refseq_ac": "NP_001121830", "glycoprotein": "yes", "species": [ { "name": "Danio rerio", "taxid": 7955, "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "protein_names": [ { "name": "Large neutral amino acids transporter small subunit 1", "type": "synonym" }, { "name": "large neutral amino acids transporter small subunit 1", "type": "synonym" }, { "name": "solute carrier family 7 (amino acid transporter light chain, L system), member 5", "type": "synonym" } ], "gene_names": [ { "name": "slc7a5", "type": "recommended" }, { "name": "LAT1", "type": "synonym" }, { "name": "slc7a5", "type": "synonym" } ], "record_id": "A0A0R4IFJ3-1", "evidence": [ { "id": "0060041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060041" } ] }, { "uniprot_canonical_ac": "A0AB13A9T5-1", "uniprot_ac": "A0AB13A9T5", "uniprot_id": "A0AB13A9T5_DANRE", "refseq_ac": "NP_001410682", "glycoprotein": "no", "species": [ { "name": "Danio rerio", "taxid": 7955, "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "protein_names": [ { "name": "Katanin p60 ATPase-containing subunit A-like 2", "type": "recommended" }, { "name": "5.6.1.1", "type": "synonym" }, { "name": "Katanin p60 subunit A-like 2", "type": "synonym" }, { "name": "katanin p60 ATPase-containing subunit A-like 2", "type": "synonym" }, { "name": "p60 katanin-like 2", "type": "synonym" } ], "gene_names": [ { "name": "katnal2", "type": "recommended" }, { "name": "KATNAL2", "type": "synonym" }, { "name": "katnal2", "type": "synonym" }, { "name": "zgc:123350", "type": "synonym" } ], "record_id": "A0AB13A9T5-1", "evidence": [ { "id": "0060041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060041" } ] }, { "uniprot_canonical_ac": "Q5XJX1-1", "uniprot_ac": "Q5XJX1", "uniprot_id": "SEGN_DANRE", "refseq_ac": "NP_001005776", "glycoprotein": "no", "species": [ { "name": "Danio rerio", "taxid": 7955, "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "protein_names": [ { "name": "Secretagogin", "type": "recommended" }, { "name": "secretagogin", "type": "synonym" } ], "gene_names": [ { "name": "scgn", "type": "recommended" }, { "name": "scgn", "type": "synonym" }, { "name": "zgc:100843", "type": "synonym" } ], "record_id": "Q5XJX1-1", "evidence": [ { "id": "0060041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060041" } ] }, { "uniprot_canonical_ac": "E7F1U4-1", "uniprot_ac": "E7F1U4", "uniprot_id": "E7F1U4_DANRE", "refseq_ac": "NP_001313396", "glycoprotein": "yes", "species": [ { "name": "Danio rerio", "taxid": 7955, "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "protein_names": [ { "name": "Synaptic Ras GTPase activating protein 1b", "type": "synonym" }, { "name": "synaptic Ras GTPase activating protein 1b", "type": "synonym" }, { "name": "syngap1", "type": "synonym" } ], "gene_names": [ { "name": "syngap1b", "type": "recommended" }, { "name": "si:dkey-246f6.1", "type": "synonym" }, { "name": "syngap1b", "type": "synonym" } ], "record_id": "E7F1U4-1", "evidence": [ { "id": "0060041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060041" } ] }, { "uniprot_canonical_ac": "A3KQL1-1", "uniprot_ac": "A3KQL1", "uniprot_id": "A3KQL1_DANRE", "refseq_ac": "NP_001315142", "glycoprotein": "yes", "species": [ { "name": "Danio rerio", "taxid": 7955, "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "protein_names": [ { "name": "N-terminal EF-hand calcium-binding protein 2", "type": "synonym" } ], "gene_names": [ { "name": "necab2", "type": "recommended" }, { "name": "im:6912315", "type": "synonym" }, { "name": "necab2", "type": "synonym" }, { "name": "zgc:112232", "type": "synonym" } ], "record_id": "A3KQL1-1", "evidence": [ { "id": "0060041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060041" } ] }, { "uniprot_canonical_ac": "A0A8M3B1F0-1", "uniprot_ac": "A0A8M3B1F0", "uniprot_id": "A0A8M3B1F0_DANRE", "refseq_ac": "XP_009301700", "glycoprotein": "yes", "species": [ { "name": "Danio rerio", "taxid": 7955, "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "protein_names": [ { "name": "Serine/threonine-protein kinase BRSK2 isoform X1", "type": "synonym" }, { "name": "serine/threonine-protein kinase BRSK2 isoform X1", "type": "synonym" } ], "gene_names": [ { "name": "brsk2b", "type": "recommended" }, { "name": "brsk2b", "type": "synonym" } ], "record_id": "A0A8M3B1F0-1", "evidence": [ { "id": "0060041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060041" } ] }, { "uniprot_canonical_ac": "A0AB32TH56-1", "uniprot_ac": "A0AB32TH56", "uniprot_id": "A0AB32TH56_DANRE", "refseq_ac": "XP_068075194", "glycoprotein": "yes", "species": [ { "name": "Danio rerio", "taxid": 7955, "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "protein_names": [ { "name": "AP-2 complex subunit alpha", "type": "recommended" }, { "name": "AP-2 complex subunit alpha-2 isoform X2", "type": "synonym" } ], "gene_names": [ { "name": "ap2a1", "type": "recommended" }, { "name": "ap2a1", "type": "synonym" } ], "record_id": "A0AB32TH56-1", "evidence": [ { "id": "0060041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060041" } ] }, { "uniprot_canonical_ac": "A0A8M3ARK3-1", "uniprot_ac": "A0A8M3ARK3", "uniprot_id": "A0A8M3ARK3_DANRE", "refseq_ac": "XP_005164655", "glycoprotein": "yes", "species": [ { "name": "Danio rerio", "taxid": 7955, "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "protein_names": [ { "name": "SH3 and multiple ankyrin repeat domains protein 3", "type": "recommended" }, { "name": "Proline-rich synapse-associated protein 2", "type": "synonym" }, { "name": "SH3 and multiple ankyrin repeat domains protein 3 isoform X1", "type": "synonym" } ], "gene_names": [ { "name": "shank3b", "type": "recommended" }, { "name": "shank3b", "type": "synonym" } ], "record_id": "A0A8M3ARK3-1", "evidence": [ { "id": "0060041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060041" } ] }, { "uniprot_canonical_ac": "A4IG53-1", "uniprot_ac": "A4IG53", "uniprot_id": "COMTB_DANRE", "refseq_ac": "NP_001077312", "glycoprotein": "yes", "species": [ { "name": "Danio rerio", "taxid": 7955, "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "protein_names": [ { "name": "Catechol O-methyltransferase B", "type": "recommended" }, { "name": "2.1.1.6", "type": "synonym" }, { "name": "catechol O-methyltransferase B precursor", "type": "synonym" }, { "name": "catechol O-methyltransferase", "type": "synonym" } ], "gene_names": [ { "name": "comtb", "type": "recommended" }, { "name": "comtb", "type": "synonym" }, { "name": "si:dkey-13a21.15", "type": "synonym" }, { "name": "zK13A21.15", "type": "synonym" }, { "name": "zgc:162236", "type": "synonym" } ], "record_id": "A4IG53-1", "evidence": [ { "id": "0060041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060041" } ] }, { "uniprot_canonical_ac": "A2BE84-1", "uniprot_ac": "A2BE84", "uniprot_id": "A2BE84_DANRE", "refseq_ac": "NP_001094421", "glycoprotein": "no", "species": [ { "name": "Danio rerio", "taxid": 7955, "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "protein_names": [ { "name": "B cell CLL/lymphoma 11Ab", "type": "synonym" }, { "name": "BAF chromatin remodeling complex subunit BCL11A b", "type": "synonym" }, { "name": "BCL11 transcription factor A b", "type": "synonym" }, { "name": "BCL11A, BAF complex component b", "type": "synonym" } ], "gene_names": [ { "name": "bcl11ab", "type": "recommended" }, { "name": "bcl11ab", "type": "synonym" }, { "name": "si:ch211-127m10.2", "type": "synonym" } ], "record_id": "A2BE84-1", "evidence": [ { "id": "0060041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060041" } ] }, { "uniprot_canonical_ac": "F4ZGF2-1", "uniprot_ac": "F4ZGF2", "uniprot_id": "COMTA_DANRE", "refseq_ac": "NP_001025328", "glycoprotein": "yes", "species": [ { "name": "Danio rerio", "taxid": 7955, "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "protein_names": [ { "name": "Catechol O-methyltransferase A", "type": "recommended" }, { "name": "2.1.1.6", "type": "synonym" }, { "name": "catechol O-methyltransferase A precursor", "type": "synonym" } ], "gene_names": [ { "name": "comta", "type": "recommended" }, { "name": "comta", "type": "synonym" }, { "name": "comt", "type": "synonym" }, { "name": "zgc:114157", "type": "synonym" } ], "record_id": "F4ZGF2-1", "evidence": [ { "id": "0060041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060041" } ] }, { "uniprot_canonical_ac": "A0A8M2B1M0-1", "uniprot_ac": "A0A8M2B1M0", "uniprot_id": "A0A8M2B1M0_DANRE", "refseq_ac": "XP_005155320", "glycoprotein": "no", "species": [ { "name": "Danio rerio", "taxid": 7955, "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "protein_names": [ { "name": "Cell adhesion molecule 2a isoform X1", "type": "synonym" }, { "name": "cell adhesion molecule 2a isoform X1", "type": "synonym" } ], "gene_names": [ { "name": "cadm2a", "type": "recommended" }, { "name": "cadm2a", "type": "synonym" }, { "name": "igsf4d", "type": "synonym" }, { "name": "zgc:66339", "type": "synonym" } ], "record_id": "A0A8M2B1M0-1", "evidence": [ { "id": "0060041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060041" } ] }, { "uniprot_canonical_ac": "F1QX08-1", "uniprot_ac": "F1QX08", "uniprot_id": "F1QX08_DANRE", "refseq_ac": "NP_001306918", "glycoprotein": "no", "species": [ { "name": "Danio rerio", "taxid": 7955, "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "protein_names": [ { "name": "Jouberin", "type": "recommended" }, { "name": "ZAhi-1", "type": "synonym" }, { "name": "jouberin", "type": "synonym" } ], "gene_names": [ { "name": "ahi1", "type": "recommended" }, { "name": "ahi1", "type": "synonym" } ], "record_id": "F1QX08-1", "evidence": [ { "id": "0060041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060041" } ] }, { "uniprot_canonical_ac": "A0A8M2B3K2-1", "uniprot_ac": "A0A8M2B3K2", "uniprot_id": "A0A8M2B3K2_DANRE", "refseq_ac": "XP_005157530", "glycoprotein": "no", "species": [ { "name": "Danio rerio", "taxid": 7955, "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "protein_names": [ { "name": "Cell adhesion molecule 2b isoform X1", "type": "synonym" }, { "name": "cell adhesion molecule 2b isoform X1", "type": "synonym" } ], "gene_names": [ { "name": "cadm2b", "type": "recommended" }, { "name": "cadm2b", "type": "synonym" }, { "name": "si:ch211-220p9.1", "type": "synonym" } ], "record_id": "A0A8M2B3K2-1", "evidence": [ { "id": "0060041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060041" } ] }, { "uniprot_canonical_ac": "A0AB32TGU6-1", "uniprot_ac": "A0AB32TGU6", "uniprot_id": "A0AB32TGU6_DANRE", "refseq_ac": "XP_068073187", "glycoprotein": "yes", "species": [ { "name": "Danio rerio", "taxid": 7955, "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "protein_names": [ { "name": "Contactin-associated protein-like 2a isoform X2", "type": "synonym" }, { "name": "contactin-associated protein-like 2a isoform X2", "type": "synonym" } ], "gene_names": [ { "name": "cntnap2a", "type": "recommended" }, { "name": "Caspr2a", "type": "synonym" }, { "name": "cntnap2a", "type": "synonym" } ], "record_id": "A0AB32TGU6-1", "evidence": [ { "id": "0060041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060041" } ] }, { "uniprot_canonical_ac": "Q90YM8-1", "uniprot_ac": "Q90YM8", "uniprot_id": "CYFP1_DANRE", "refseq_ac": "NP_997924", "glycoprotein": "yes", "species": [ { "name": "Danio rerio", "taxid": 7955, "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "protein_names": [ { "name": "Cytoplasmic FMR1-interacting protein 1 homolog", "type": "recommended" }, { "name": "cytoplasmic FMR1-interacting protein 1 homolog", "type": "synonym" } ], "gene_names": [ { "name": "cyfip1", "type": "recommended" }, { "name": "CYFIP", "type": "synonym" }, { "name": "CY", "type": "synonym" }, { "name": "cyfip1", "type": "synonym" }, { "name": "fb15a06", "type": "synonym" }, { "name": "wu:fb15a06", "type": "synonym" } ], "record_id": "Q90YM8-1", "evidence": [ { "id": "0060041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060041" } ] }, { "uniprot_canonical_ac": "A0AC58GYK7-1", "uniprot_ac": "A0AC58GYK7", "uniprot_id": "A0AC58GYK7_DANRE", "refseq_ac": "XP_073774811", "glycoprotein": "no", "species": [ { "name": "Danio rerio", "taxid": 7955, "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "protein_names": [ { "name": "BAR/IMD domain-containing adapter protein 2", "type": "recommended" }, { "name": "BAR/IMD domain-containing adapter protein 2 isoform X1", "type": "synonym" }, { "name": "Brain-specific angiogenesis inhibitor 1-associated protein 2", "type": "synonym" } ], "gene_names": [ { "name": "baiap2b", "type": "recommended" }, { "name": "baiap2b", "type": "synonym" } ], "record_id": "A0AC58GYK7-1", "evidence": [ { "id": "0060041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060041" } ] }, { "uniprot_canonical_ac": "A0A8M2BAV5-1", "uniprot_ac": "A0A8M2BAV5", "uniprot_id": "A0A8M2BAV5_DANRE", "refseq_ac": "XP_005163812", "glycoprotein": "yes", "species": [ { "name": "Danio rerio", "taxid": 7955, "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "protein_names": [ { "name": "BAR/IMD domain-containing adapter protein 2", "type": "recommended" }, { "name": "Brain-specific angiogenesis inhibitor 1-associated protein 2", "type": "synonym" }, { "name": "brain-specific angiogenesis inhibitor 1-associated protein 2a isoform X1", "type": "synonym" } ], "gene_names": [ { "name": "baiap2a", "type": "recommended" }, { "name": "baiap2a", "type": "synonym" }, { "name": "wu:fk29g02", "type": "synonym" }, { "name": "zgc:136827", "type": "synonym" } ], "record_id": "A0A8M2BAV5-1", "evidence": [ { "id": "0060041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060041" } ] }, { "uniprot_canonical_ac": "A0A8M2B3P5-1", "uniprot_ac": "A0A8M2B3P5", "uniprot_id": "A0A8M2B3P5_DANRE", "refseq_ac": "NP_001334760", "glycoprotein": "no", "species": [ { "name": "Danio rerio", "taxid": 7955, "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "protein_names": [ { "name": "dual-specificity kinase", "type": "recommended" }, { "name": "2.7.12.1", "type": "synonym" }, { "name": "dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A, b", "type": "synonym" }, { "name": "dual-specificity tyrosine-regulated kinase 1ab", "type": "synonym" } ], "gene_names": [ { "name": "dyrk1ab", "type": "recommended" }, { "name": "dyrk1ab", "type": "synonym" }, { "name": "fi12h09", "type": "synonym" }, { "name": "wu:fi12h09", "type": "synonym" }, { "name": "wu:fi26g04", "type": "synonym" } ], "record_id": "A0A8M2B3P5-1", "evidence": [ { "id": "0060041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060041" } ] }, { "uniprot_canonical_ac": "A0AB32TLD3-1", "uniprot_ac": "A0AB32TLD3", "uniprot_id": "A0AB32TLD3_DANRE", "refseq_ac": "XP_068075726", "glycoprotein": "no", "species": [ { "name": "Danio rerio", "taxid": 7955, "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "protein_names": [ { "name": "Forkhead box protein P2 isoform X1", "type": "synonym" }, { "name": "forkhead box protein P2 isoform X1", "type": "synonym" } ], "gene_names": [ { "name": "foxp2", "type": "recommended" }, { "name": "foxp2", "type": "synonym" } ], "record_id": "A0AB32TLD3-1", "evidence": [ { "id": "0060041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060041" } ] }, { "uniprot_canonical_ac": "X1WFM6-1", "uniprot_ac": "X1WFM6", "uniprot_id": "X1WFM6_DANRE", "refseq_ac": "XP_690360", "glycoprotein": "yes", "species": [ { "name": "Danio rerio", "taxid": 7955, "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "protein_names": [ { "name": "Methyl-CpG-binding domain protein 6 isoform X1", "type": "synonym" }, { "name": "methyl-CpG-binding domain protein 6 isoform X1", "type": "synonym" } ], "gene_names": [ { "name": "mbd6", "type": "recommended" }, { 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[7955]" } ], "protein_names": [ { "name": "Indian hedgehog B protein", "type": "recommended" }, { "name": "3.1.-.-", "type": "synonym" }, { "name": "EHH", "type": "synonym" }, { "name": "Echidna hedgehog protein", "type": "synonym" }, { "name": "IHHB", "type": "synonym" }, { "name": "Indian hedgehog homolog b", "type": "synonym" }, { "name": "echidna hedgehog protein", "type": "synonym" }, { "name": "hh[b]", "type": "synonym" }, { "name": "hhb", "type": "synonym" }, { "name": "indian hedgehog B protein precursor", "type": "synonym" }, { "name": "indian hedgehog B protein", "type": "synonym" } ], "gene_names": [ { "name": "ihhb", "type": "recommended" }, { "name": "IHH", "type": "synonym" }, { "name": "ehh", "type": "synonym" }, { "name": "ihhb", "type": "synonym" }, { "name": "ihh", "type": "synonym" }, { "name": "zgc:113262", "type": "synonym" } ], "record_id": "Q98862-1", "evidence": [ { "id": "0060041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060041" } ] }, { "uniprot_canonical_ac": "Q90419-1", "uniprot_ac": "Q90419", "uniprot_id": "TWHH_DANRE", "refseq_ac": "", "glycoprotein": "no", "species": [ { "name": "Danio rerio", "taxid": 7955, "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "protein_names": [ { "name": "Tiggy-winkle hedgehog protein", "type": "recommended" }, { "name": "3.1.-.-", "type": "synonym" }, { "name": "SHHB", "type": "synonym" }, { "name": "Shh N-terminal processed signaling domains", "type": "synonym" }, { "name": "ShhNp", "type": "synonym" }, { "name": "ShhN", "type": "synonym" }, { "name": "Sonic hedgehog protein B", "type": "synonym" }, { "name": "Sonic hedgehog protein N-product", "type": "synonym" }, { "name": "TWHH", "type": "synonym" } ], "gene_names": [ { "name": "shhb", "type": "recommended" }, { "name": "twhh", "type": "synonym" } ], "record_id": "Q90419-1", "evidence": [ { "id": "0060041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060041" } ] }, { "uniprot_canonical_ac": "Q92008-1", "uniprot_ac": "Q92008", "uniprot_id": "SHH_DANRE", "refseq_ac": "NP_571138", "glycoprotein": "no", "species": [ { "name": "Danio rerio", "taxid": 7955, "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "protein_names": [ { "name": "Sonic hedgehog protein", "type": "recommended" }, { "name": "3.1.-.-", "type": "synonym" }, { "name": "SHHA", "type": "synonym" }, { "name": "Shh N-terminal processed signaling domains", "type": "synonym" }, { "name": "Shh unprocessed N-terminal signaling and C-terminal autoprocessing domains", "type": "synonym" }, { "name": "ShhNC", "type": "synonym" }, { "name": "ShhNp", "type": "synonym" }, { "name": "ShhN", "type": "synonym" }, { "name": "Sonic hedgehog protein N-product", "type": "synonym" }, { "name": "VHH-1", "type": "synonym" }, { "name": "shh unprocessed N-terminal signaling and C-terminal 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"common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "protein_names": [ { "name": "Mu-type opioid receptor", "type": "recommended" }, { "name": "ZfMOR", "type": "synonym" }, { "name": "mu-type opioid receptor", "type": "synonym" } ], "gene_names": [ { "name": "oprm1", "type": "recommended" }, { "name": "ZFOR2", "type": "synonym" }, { "name": "oprm1", "type": "synonym" }, { "name": "or2", "type": "synonym" } ], "record_id": "B8JHS2-1", "evidence": [ { "id": "0060041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060041" } ] }, { "uniprot_canonical_ac": "E7EZD1-1", "uniprot_ac": "E7EZD1", "uniprot_id": "E7EZD1_DANRE", "refseq_ac": "NP_001013518", "glycoprotein": "no", "species": [ { "name": "Danio rerio", "taxid": 7955, "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "protein_names": [ { "name": "Neurobeachin", "type": "recommended" }, { "name": "Lysosomal-trafficking regulator 2", "type": "synonym" }, { "name": "neurobeachin a", "type": "synonym" } ], "gene_names": [ { "name": "nbeaa", "type": "recommended" }, { "name": "im:7138260", "type": "synonym" }, { "name": "nbeaa", "type": "synonym" }, { "name": "nbea", "type": "synonym" }, { "name": "si:ch211-125n11.1", "type": "synonym" }, { "name": "zgc:113510", "type": "synonym" } ], "record_id": "E7EZD1-1", "evidence": [ { "id": "0060041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060041" } ] }, { "uniprot_canonical_ac": "E7F1C5-1", "uniprot_ac": "E7F1C5", "uniprot_id": "E7F1C5_DANRE", "refseq_ac": "XP_698481", "glycoprotein": "yes", "species": [ { "name": "Danio rerio", "taxid": 7955, "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "protein_names": [ { "name": "FERM domain-containing protein 5", "type": "recommended" }, { "name": "FERM domain-containing protein 5 isoform X1", "type": "synonym" } ], "gene_names": [ { "name": "frmd5b", "type": "recommended" }, { "name": "frmd5b", "type": "synonym" } ], "record_id": "E7F1C5-1", "evidence": [ { "id": "0060041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060041" } ] }, { "uniprot_canonical_ac": "A0A8M9QGN1-1", "uniprot_ac": "A0A8M9QGN1", "uniprot_id": "A0A8M9QGN1_DANRE", "refseq_ac": "XP_021336829", "glycoprotein": "yes", "species": [ { "name": "Danio rerio", "taxid": 7955, "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "protein_names": [ { "name": "E3 ubiquitin-protein ligase SH3RF2 isoform X1", "type": "synonym" } ], "gene_names": [ { "name": "sh3rf2", "type": "recommended" }, { "name": "sh3rf2", "type": "synonym" } ], "record_id": "A0A8M9QGN1-1", "evidence": [ { "id": "0060041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060041" } ] }, { "uniprot_canonical_ac": "P31533-1", "uniprot_ac": "P31533", "uniprot_id": 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], "record_id": "P31533-1", "evidence": [ { "id": "0060041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060041" } ] }, { "uniprot_canonical_ac": "F1QL82-1", "uniprot_ac": "F1QL82", "uniprot_id": "F1QL82_DANRE", "refseq_ac": "XP_686844", "glycoprotein": "no", "species": [ { "name": "Danio rerio", "taxid": 7955, "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "protein_names": [ { "name": "Teashirt homolog 3", "type": "synonym" }, { "name": "teashirt homolog 3", "type": "synonym" } ], "gene_names": [ { "name": "tshz3a", "type": "recommended" }, { "name": "tshz3a", "type": "synonym" } ], "record_id": "F1QL82-1", "evidence": [ { "id": "0060041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060041" } ] }, { "uniprot_canonical_ac": "A0A0R4IJU5-1", "uniprot_ac": "A0A0R4IJU5", "uniprot_id": "A0A0R4IJU5_DANRE", "refseq_ac": "NP_001314700", "glycoprotein": "yes", "species": [ { "name": "Danio rerio", "taxid": 7955, "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "protein_names": [ { "name": "Synapsin-1", "type": "recommended" }, { "name": "Synapsin I", "type": "synonym" }, { "name": "synapsin-2b", "type": "synonym" } ], "gene_names": [ { "name": "syn2b", "type": "recommended" }, { "name": "syn2b", "type": "synonym" }, { "name": "zgc:123199", "type": "synonym" } ], "record_id": "A0A0R4IJU5-1", "evidence": [ { "id": "0060041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060041" } ] }, { "uniprot_canonical_ac": "B0UXI4-1", "uniprot_ac": "B0UXI4", "uniprot_id": "B0UXI4_DANRE", "refseq_ac": "NP_001119909", "glycoprotein": "no", "species": [ { "name": "Danio rerio", "taxid": 7955, "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "protein_names": [ { "name": "Synapsin-1", "type": "recommended" }, { "name": "Synapsin I", "type": "synonym" 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"type": "recommended" }, { "name": "gabrb3", "type": "synonym" } ], "record_id": "A0A8M2BDH7-1", "evidence": [ { "id": "0060041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060041" } ] }, { "uniprot_canonical_ac": "F1RDK4-1", "uniprot_ac": "F1RDK4", "uniprot_id": "F1RDK4_DANRE", "refseq_ac": "XP_690921", "glycoprotein": "no", "species": [ { "name": "Danio rerio", "taxid": 7955, "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "protein_names": [ { "name": "Rho GTPase-activating protein 32", "type": "recommended" }, { "name": "Rho-type GTPase-activating protein 32", "type": "synonym" }, { "name": "Rho/Cdc42/Rac GTPase-activating protein RICS", "type": "synonym" }, { "name": "rho GTPase-activating protein 32 isoform X1", "type": "synonym" } ], "gene_names": [ { "name": "arhgap32a", "type": "recommended" }, { "name": "arhgap32a", "type": "synonym" } ], "record_id": "F1RDK4-1", "evidence": [ { "id": 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"evidence": [ { "id": "0060041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060041" } ] }, { "uniprot_canonical_ac": "E7FC03-1", "uniprot_ac": "E7FC03", "uniprot_id": "E7FC03_DANRE", "refseq_ac": "XP_002662575", "glycoprotein": "no", "species": [ { "name": "Danio rerio", "taxid": 7955, "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "protein_names": [ { "name": "Chemokine-like protein TAFA-2", "type": "synonym" }, { "name": "chemokine-like protein TAFA-2", "type": "synonym" } ], "gene_names": [ { "name": "tafa3a", "type": "recommended" }, { "name": "tafa3a", "type": "synonym" } ], "record_id": "E7FC03-1", "evidence": [ { "id": "0060041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060041" } ] }, { "uniprot_canonical_ac": "F1QGH7-1", "uniprot_ac": "F1QGH7", "uniprot_id": "CTNB1_DANRE", "refseq_ac": "NP_571134", "glycoprotein": "yes", "species": [ { "name": "Danio rerio", "taxid": 7955, "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "protein_names": [ { "name": "Catenin beta-1", "type": "recommended" }, { "name": "Beta-catenin", "type": "synonym" }, { "name": "beta-catenin", "type": "synonym" }, { "name": "catenin beta-1", "type": "synonym" } ], "gene_names": [ { "name": "ctnnb1", "type": "recommended" }, { "name": "ctnnb1", "type": "synonym" }, { "name": "ctnnb", "type": "synonym" }, { "name": "id:ibd2058", "type": "synonym" }, { "name": "wu:fb73e10", "type": "synonym" }, { "name": "wu:fi81c06", "type": "synonym" }, { "name": "wu:fk25h01", "type": "synonym" } ], "record_id": "F1QGH7-1", "evidence": [ { "id": "0060041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060041" } ] }, { "uniprot_canonical_ac": "A0A8M1PHN1-1", "uniprot_ac": "A0A8M1PHN1", "uniprot_id": "A0A8M1PHN1_DANRE", "refseq_ac": "NP_957002", "glycoprotein": "no", "species": [ { "name": "Danio rerio", "taxid": 7955, "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "protein_names": [ { "name": "Phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase and dual-specificity protein phosphatase PTEN", "type": "recommended" }, { "name": "3.1.3.16", "type": "synonym" }, { "name": "3.1.3.48", "type": "synonym" }, { "name": "3.1.3.67", "type": "synonym" }, { "name": "Phosphatase and tensin homolog", "type": "synonym" }, { "name": "phosphatase and tensin homolog A", "type": "synonym" }, { "name": "phosphatase and tensin-like protein A", "type": "synonym" } ], "gene_names": [ { "name": "ptena", "type": "recommended" }, { "name": "ptena", "type": "synonym" }, { "name": "wu:fc52g04", "type": "synonym" }, { "name": "zgc:73086", "type": "synonym" } ], "record_id": "A0A8M1PHN1-1", "evidence": [ { "id": "0060041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060041" } ] }, { "uniprot_canonical_ac": "A0A8M1N4J9-1", "uniprot_ac": "A0A8M1N4J9", "uniprot_id": "A0A8M1N4J9_DANRE", "refseq_ac": "NP_001013586", "glycoprotein": "no", "species": [ { "name": "Danio rerio", "taxid": 7955, "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "protein_names": [ { "name": "2.7.11.1", "type": "synonym" }, { "name": "Serine/threonine-protein kinase VRK3", "type": "synonym" }, { "name": "serine/threonine-protein kinase VRK3", "type": "synonym" }, { "name": "vaccinia related kinase 3", "type": "synonym" } ], "gene_names": [ { "name": "vrk3", "type": "recommended" }, { "name": "im:6899839", "type": "synonym" }, { "name": "vrk3", "type": "synonym" }, { "name": "wu:fb18c01", "type": "synonym" }, { "name": "zgc:113420", "type": "synonym" } ], "record_id": "A0A8M1N4J9-1", "evidence": [ { "id": "0060041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060041" } ] }, { "uniprot_canonical_ac": "A0A8M9QKL5-1", "uniprot_ac": "A0A8M9QKL5", 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isoform X1", "type": "synonym" } ], "gene_names": [ { "name": "pdgfrb", "type": "recommended" }, { "name": "pdgfrb2", "type": "synonym" }, { "name": "pdgfrb", "type": "synonym" } ], "record_id": "A0A8M9QKL5-1", "evidence": [ { "id": "0060041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060041" } ] }, { "uniprot_canonical_ac": "A8E7N7-1", "uniprot_ac": "A8E7N7", "uniprot_id": "A8E7N7_DANRE", "refseq_ac": "NP_001201839", "glycoprotein": "yes", "species": [ { "name": "Danio rerio", "taxid": 7955, "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "protein_names": [ { "name": "Uncharacterized protein LOC100535215", "type": "synonym" }, { "name": "pogo transposable element with ZNF domain a", "type": "synonym" }, { "name": "uncharacterized protein LOC100535215", "type": "synonym" } ], "gene_names": [ { "name": "pogza", "type": "recommended" }, { "name": "im:7136628", "type": "synonym" }, { "name": "pogza", "type": "synonym" }, { "name": "si:dkey-200h23.5", "type": "synonym" }, { "name": "wu:fe24e11", "type": "synonym" } ], "record_id": "A8E7N7-1", "evidence": [ { "id": "0060041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060041" } ] }, { "uniprot_canonical_ac": "P09015-1", "uniprot_ac": "P09015", "uniprot_id": "HME2A_DANRE", "refseq_ac": "NP_571119", "glycoprotein": "no", "species": [ { "name": "Danio rerio", "taxid": 7955, "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "protein_names": [ { "name": "Homeobox protein engrailed-2a", "type": "recommended" }, { "name": "Homeobox protein en-2a", "type": "synonym" }, { "name": "Zf-En-2", "type": "synonym" }, { "name": "engrailed 2a", "type": "synonym" }, { "name": "homeobox protein en-2a", "type": "synonym" }, { "name": "homeobox protein engrailed-2a", "type": "synonym" } ], "gene_names": [ { "name": "eng2a", "type": "recommended" }, { "name": "ENG-2", "type": "synonym" }, { "name": "ZF-EN-2", "type": "synonym" }, { "name": "Zf-en", "type": "synonym" }, { "name": "en2a", "type": "synonym" }, { "name": "eng-2", "type": "synonym" }, { "name": "eng2a", "type": "synonym" }, { "name": "eng2", "type": "synonym" }, { "name": "zf-en-2", "type": "synonym" } ], "record_id": "P09015-1", "evidence": [ { "id": "0060041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060041" } ] }, { "uniprot_canonical_ac": "A0A8M3ALJ2-1", "uniprot_ac": "A0A8M3ALJ2", "uniprot_id": "A0A8M3ALJ2_DANRE", "refseq_ac": "XP_009293685", "glycoprotein": "yes", "species": [ { "name": "Danio rerio", "taxid": 7955, "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "protein_names": [ { "name": "Rho GTPase-activating protein 32", "type": "recommended" }, { "name": "Rho-type GTPase-activating protein 32", "type": "synonym" }, { "name": "Rho/Cdc42/Rac GTPase-activating protein RICS", "type": "synonym" }, { "name": "rho GTPase-activating protein 32 isoform X1", "type": "synonym" } ], "gene_names": [ { "name": "arhgap32b", "type": "recommended" }, { "name": "arhgap32b", "type": "synonym" } ], "record_id": "A0A8M3ALJ2-1", "evidence": [ { "id": "0060041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060041" } ] }, { "uniprot_canonical_ac": "A0AB32T9D0-1", "uniprot_ac": "A0AB32T9D0", "uniprot_id": "A0AB32T9D0_DANRE", "refseq_ac": "XP_068070008", "glycoprotein": "yes", "species": [ { "name": "Danio rerio", "taxid": 7955, "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "protein_names": [ { "name": "PILR alpha-associated neural protein isoform X1", "type": "synonym" } ], "gene_names": [ { "name": "si:ch211-154o6.4", "type": "recommended" }, { "name": "fj34b09", "type": "synonym" }, { "name": "si:ch211-154o6.4", "type": "synonym" }, { "name": "wu:fj34b09", "type": "synonym" } ], "record_id": "A0AB32T9D0-1", "evidence": [ { "id": "0060041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060041" } ] }, { "uniprot_canonical_ac": "A0A8M9Q653-1", "uniprot_ac": "A0A8M9Q653", "uniprot_id": "A0A8M9Q653_DANRE", "refseq_ac": "XP_021332559", "glycoprotein": "no", "species": [ { "name": "Danio rerio", "taxid": 7955, "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "protein_names": [ { "name": "Sodium channel protein", "type": "recommended" }, { "name": "sodium channel, voltage-gated, type I like, alpha b isoform X2", "type": "synonym" } ], "gene_names": [ { "name": "scn1lab", "type": "recommended" }, { "name": "scn1lab", "type": "synonym" } ], "record_id": "A0A8M9Q653-1", "evidence": [ { "id": "0060041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060041" } ] }, { "uniprot_canonical_ac": "F1QKM9-1", "uniprot_ac": "F1QKM9", "uniprot_id": "F1QKM9_DANRE", "refseq_ac": "XP_021325244", "glycoprotein": "no", "species": [ { "name": "Danio rerio", "taxid": 7955, "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "protein_names": [ { "name": "Transmembrane protease serine 9 isoform X1", "type": "synonym" }, { "name": "transmembrane protease serine 9 isoform X1", "type": "synonym" } ], "gene_names": [ { "name": "tmprss9", "type": "recommended" }, { "name": "tmprss9", "type": "synonym" } ], "record_id": "F1QKM9-1", "evidence": [ { "id": "0060041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060041" } ] }, { "uniprot_canonical_ac": "A0AB13A795-1", "uniprot_ac": "A0AB13A795", "uniprot_id": "A0AB13A795_DANRE", "refseq_ac": "NP_001340893", "glycoprotein": "yes", "species": [ { "name": "Danio rerio", "taxid": 7955, "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "protein_names": [ { "name": "Synapsin-3", "type": "synonym" }, { "name": "synapsin-3", "type": "synonym" } ], "gene_names": [ { "name": "syn3", "type": "recommended" }, { "name": "si:ch73-252i11.2", "type": "synonym" }, { "name": "syn3", "type": "synonym" } ], "record_id": "A0AB13A795-1", "evidence": [ { "id": "0060041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060041" } ] }, { "uniprot_canonical_ac": "A0A8M6Z266-1", "uniprot_ac": "A0A8M6Z266", "uniprot_id": "A0A8M6Z266_DANRE", "refseq_ac": "XP_017212869", "glycoprotein": "no", "species": [ { "name": "Danio rerio", "taxid": 7955, "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "protein_names": [ { "name": "Inositol 1,4,5-trisphosphate receptor", "type": "recommended" }, { "name": "inositol 1,4,5-trisphosphate-gated calcium channel ITPR3 isoform X1", "type": "synonym" } ], "gene_names": [ { "name": "itpr3", "type": "recommended" }, { "name": "itpr3", "type": "synonym" }, { "name": "si:dkey-163f12.8", "type": "synonym" } ], "record_id": "A0A8M6Z266-1", "evidence": [ { "id": "0060041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060041" } ] }, { "uniprot_canonical_ac": "A0A8M3B1K8-1", "uniprot_ac": "A0A8M3B1K8", "uniprot_id": "A0A8M3B1K8_DANRE", "refseq_ac": "NP_001429925", "glycoprotein": "no", "species": [ { "name": "Danio rerio", "taxid": 7955, "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "protein_names": [ { "name": "Neural cell adhesion molecule L1", "type": "recommended" }, { "name": "neuronal cell adhesion molecule a isoform 4 precursor", "type": "synonym" } ], "gene_names": [ { "name": "nrcama", "type": "recommended" }, { "name": "nrcama", "type": "synonym" }, { "name": "nrcam", "type": "synonym" }, { "name": "si:dkey-240a12.1", "type": "synonym" } ], "record_id": "A0A8M3B1K8-1", "evidence": [ { "id": "0060041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060041" } ] }, { "uniprot_canonical_ac": "Q05AM5-1", "uniprot_ac": "Q05AM5", "uniprot_id": "ELP2_DANRE", "refseq_ac": "", "glycoprotein": "no", "species": [ { "name": "Danio rerio", "taxid": 7955, "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "protein_names": [ { "name": "Elongator complex protein 2", "type": "recommended" }, { "name": "ELP2", "type": "synonym" } ], "gene_names": [ { "name": "elp2", "type": "recommended" }, { "name": "si:dkey-190l1.1", "type": "synonym" }, { "name": "zgc:153559", "type": "synonym" } ], "record_id": "Q05AM5-1", "evidence": [ { "id": "0060041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060041" } ] }, { "uniprot_canonical_ac": "Q5IGR7-1", "uniprot_ac": "Q5IGR7", "uniprot_id": "EXT1B_DANRE", "refseq_ac": "", "glycoprotein": "yes", "species": [ { "name": "Danio rerio", "taxid": 7955, "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "protein_names": [ { "name": "Exostosin-1b", "type": "recommended" }, { "name": "2.4.1.224", "type": "synonym" }, { "name": "2.4.1.225", "type": "synonym" }, { "name": "Glucuronosyl-N-acetylglucosaminyl-proteoglycan/N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase 1b", "type": "synonym" }, { "name": "Multiple exostoses protein 1 homolog b", "type": "synonym" } ], "gene_names": [ { "name": "ext1b", "type": "recommended" }, { "name": "LOC141377498", "type": "synonym" }, { "name": "LOC141381663", "type": "synonym" } ], "record_id": "Q5IGR7-1", "evidence": [ { "id": "0060041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060041" } ] }, { "uniprot_canonical_ac": "A0ACD6B7I9-1", "uniprot_ac": "A0ACD6B7I9", "uniprot_id": "A0ACD6B7I9_DANRE", "refseq_ac": "XP_017213150", "glycoprotein": "no", "species": [ { "name": "Danio rerio", "taxid": 7955, "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "protein_names": [ { "name": "Sodium channel protein", "type": "recommended" }, { "name": "sodium channel, voltage-gated, type I-like, alpha isoform X1", "type": "synonym" } ], "gene_names": [ { "name": "scn1laa", "type": "recommended" }, { "name": "Nav1.1", "type": "synonym" }, { "name": "scn1a", "type": "synonym" }, { "name": "scn1laa", "type": "synonym" }, { "name": "unm_sa1674", "type": "synonym" }, { "name": "zgc:158596", "type": "synonym" }, { "name": "zgc:55600", "type": "synonym" }, { "name": "zscn8", "type": "synonym" } ], "record_id": "A0ACD6B7I9-1", "evidence": [ { "id": "0060041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060041" } ] }, { "uniprot_canonical_ac": "A0AC58IA45-1", "uniprot_ac": "A0AC58IA45", "uniprot_id": "A0AC58IA45_DANRE", "refseq_ac": "XP_073791110", "glycoprotein": "yes", "species": [ { "name": "Danio rerio", "taxid": 7955, "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } 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"uniprot_ac": "Q4ACU6", "uniprot_id": "SHAN3_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": "SH3 and multiple ankyrin repeat domains protein 3", "type": "recommended" }, { "name": "ProSAP2", "type": "synonym" }, { "name": "Proline-rich synapse-associated protein 2", "type": "synonym" }, { "name": "SPANK-2", "type": "synonym" }, { "name": "Shank3", "type": "synonym" } ], "gene_names": [ { "name": "Shank3", "type": "recommended" }, { "name": "Kiaa1650", "type": "synonym" }, { "name": "Prosap2", "type": "synonym" } ], "record_id": "Q4ACU6-1", "evidence": [ { "id": "0060041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060041" } ] }, { "uniprot_canonical_ac": "Q80TG9-1", "uniprot_ac": "Q80TG9", "uniprot_id": "LRFN2_MOUSE", "refseq_ac": "NP_081728", "glycoprotein": "yes", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Leucine-rich repeat and fibronectin type-III domain-containing protein 2", "type": "recommended" }, { "name": "leucine-rich repeat and fibronectin type-III domain-containing protein 2 precursor", "type": "synonym" }, { "name": "leucine-rich repeat and fibronectin type-III domain-containing protein 2", "type": "synonym" } ], "gene_names": [ { "name": "Lrfn2", "type": "recommended" }, { "name": "5730420O05Rik", "type": "synonym" }, { "name": "Kiaa1246", "type": "synonym" }, { "name": "Lrfn2", "type": "synonym" }, { "name": "SALM1", "type": "synonym" }, { "name": "Salm1", "type": "synonym" }, { "name": "mKIAA1246", "type": "synonym" } ], "record_id": "Q80TG9-1", "evidence": [ { "id": "0060041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060041" } ] }, { "uniprot_canonical_ac": "P35922-1", "uniprot_ac": "P35922", "uniprot_id": "FMR1_MOUSE", "refseq_ac": "NP_032057", "glycoprotein": "yes", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Fragile X messenger ribonucleoprotein 1", "type": "recommended" }, { "name": "FMRP translational regulator 1", "type": "synonym" }, { "name": "FMRP", "type": "synonym" }, { "name": "Fragile X messenger ribonucleoprotein", "type": "synonym" }, { "name": "Protein FMR-1", "type": "synonym" }, { "name": "fragile X messenger ribonucleoprotein 1 isoform 1", "type": "synonym" }, { "name": "mFmr1p", "type": "synonym" }, { "name": "synaptic functional regulator FMR1", "type": "synonym" } ], "gene_names": [ { "name": "Fmr1", "type": "recommended" }, { "name": "FMRP", "type": "synonym" }, { "name": "Fmr-1", "type": "synonym" }, { "name": "Fmr1", "type": "synonym" } ], "record_id": "P35922-1", "evidence": [ { "id": "0060041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060041" } ] }, { "uniprot_canonical_ac": "P11798-1", "uniprot_ac": "P11798", "uniprot_id": "KCC2A_MOUSE", "refseq_ac": "NP_001273738", "glycoprotein": "yes", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Calcium/calmodulin-dependent protein kinase type II subunit alpha", "type": "recommended" }, { "name": "2.7.11.17", "type": "synonym" }, { "name": "CaM kinase II subunit alpha", "type": "synonym" }, { "name": "CaMK II", "type": "synonym" }, { "name": "CaMK-II subunit alpha", "type": "synonym" }, { "name": "alpha-CaMKII", "type": "synonym" }, { "name": "caM kinase II subunit alpha", "type": "synonym" }, { "name": "caMK-II subunit alpha", "type": "synonym" }, { "name": "calcium/calmodulin-dependent protein kinase type II subunit alpha isoform 3", "type": "synonym" }, { "name": "calcium/calmodulin-dependent protein kinase type II subunit alpha", "type": "synonym" } ], "gene_names": [ { "name": "Camk2a", "type": "recommended" }, { "name": "CaMKII", "type": "synonym" }, { "name": "Camk2a", "type": "synonym" }, { "name": "mKIAA0968", "type": "synonym" } ], "record_id": "P11798-1", "evidence": [ { "id": "0060041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060041" } ] }, { "uniprot_canonical_ac": "Q64336-1", "uniprot_ac": "Q64336", "uniprot_id": "TBR1_MOUSE", "refseq_ac": "NP_033348", "glycoprotein": "yes", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "T-box brain protein 1", "type": "recommended" }, { "name": "T-box brain gene 1", "type": "synonym" }, { "name": "T-box brain protein 1 isoform 1", "type": "synonym" }, { "name": "T-box brain protein 1", "type": "synonym" }, { "name": "T-brain-1", "type": "synonym" }, { "name": "TBR-1", "type": "synonym" }, { "name": "TES-56", "type": "synonym" } ], "gene_names": [ { "name": "Tbr1", "type": "recommended" }, { "name": "Tbr1", "type": "synonym" } ], "record_id": "Q64336-1", "evidence": [ { "id": "0060041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060041" } ] }, { "uniprot_canonical_ac": "P03925-1", "uniprot_ac": "P03925", "uniprot_id": "NU6M_MOUSE", "refseq_ac": "NP_904339", "glycoprotein": "no", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "NADH-ubiquinone oxidoreductase chain 6", "type": "recommended" }, { "name": "7.1.1.2", "type": "synonym" }, { "name": "NADH dehydrogenase subunit 6", "type": "synonym" } ], "gene_names": [ { "name": "Mtnd6", "type": "recommended" }, { "name": "ND6", "type": "synonym" }, { "name": "Nd6", "type": "synonym" }, { "name": "mt-Nd6", "type": "synonym" } ], "record_id": "P03925-1", "evidence": [ { "id": "0060041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060041" } ] }, { "uniprot_canonical_ac": "Q810U4-1", "uniprot_ac": "Q810U4", "uniprot_id": "NRCAM_MOUSE", "refseq_ac": "NP_001139503", "glycoprotein": "yes", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Neuronal cell adhesion molecule", "type": "recommended" }, { "name": "Neuronal surface protein Bravo", "type": "synonym" }, { "name": "Ng-CAM-related", "type": "synonym" }, { "name": "NgCAM-related cell adhesion molecule", "type": "synonym" }, { "name": "Nr-CAM", "type": "synonym" }, { "name": "mBravo", "type": "synonym" }, { "name": "neuron-glia-CAM-related cell adhesion molecule", "type": "synonym" }, { "name": "neuronal cell adhesion molecule isoform 2 precursor", "type": "synonym" }, { "name": "neuronal surface protein Bravo", "type": "synonym" }, { "name": "ng-CAM-related", "type": "synonym" }, { "name": "ngCAM-related cell adhesion molecule", "type": "synonym" }, { "name": "nr-CAM", "type": "synonym" } ], "gene_names": [ { "name": "Nrcam", "type": "recommended" }, { "name": "Bravo", "type": "synonym" }, { "name": "C030017F07Rik", "type": "synonym" }, { "name": "C130076O07Rik", "type": "synonym" }, { "name": "Kiaa0343", "type": "synonym" }, { "name": "Nrcam", "type": "synonym" }, { "name": "mKIAA0343", "type": "synonym" } ], "record_id": "Q810U4-1", "evidence": [ { "id": "0060041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060041" } ] }, { "uniprot_canonical_ac": "Q9EP53-1", "uniprot_ac": "Q9EP53", "uniprot_id": "TSC1_MOUSE", "refseq_ac": "NP_001276504", "glycoprotein": "yes", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Hamartin", "type": "recommended" }, { "name": "Tuberous sclerosis 1 protein homolog", "type": "synonym" }, { "name": "hamartin isoform 1", "type": "synonym" }, { "name": "hamartin", "type": "synonym" }, { "name": "tuberous sclerosis 1 protein homolog", "type": "synonym" } ], "gene_names": [ { "name": "Tsc1", "type": "recommended" }, { "name": "Kiaa0243", "type": "synonym" }, { "name": "Tsc1", "type": "synonym" } ], "record_id": "Q9EP53-1", "evidence": [ { "id": "0060041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060041" } ] }, { "uniprot_canonical_ac": "O55028-1", "uniprot_ac": "O55028", "uniprot_id": "BCKD_MOUSE", "refseq_ac": "NP_033869", "glycoprotein": "yes", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Branched-chain alpha-ketoacid dehydrogenase kinase", "type": "recommended" }, { "name": "2.7.11.1", "type": "synonym" }, { "name": "2.7.11.4", "type": "synonym" }, { "name": "BCKD-kinase", "type": "synonym" }, { "name": "BCKDH kinase", "type": "synonym" }, { "name": "BCKDHKIN", "type": "synonym" }, { "name": "BDK", "type": "synonym" }, { "name": "[3-methyl-2-oxobutanoate dehydrogenase [lipoamide]] kinase, mitochondrial", "type": "synonym" }, { "name": "branched-chain alpha-ketoacid dehydrogenase kinase precursor", "type": "synonym" }, { "name": "branched-chain alpha-ketoacid dehydrogenase kinase", "type": "synonym" } ], "gene_names": [ { "name": "Bckdk", "type": "recommended" }, { "name": "BDK", "type": "synonym" }, { "name": "Bckdk", "type": "synonym" } ], "record_id": "O55028-1", "evidence": [ { "id": "0060041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060041" } ] }, { "uniprot_canonical_ac": "E9Q4N7-1", "uniprot_ac": "E9Q4N7", "uniprot_id": "ARI1B_MOUSE", "refseq_ac": "XP_006523284", "glycoprotein": "yes", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "AT-rich interactive domain-containing protein 1B", "type": "recommended" }, { "name": "ARID domain-containing protein 1B", "type": "synonym" }, { "name": "AT-rich interactive domain-containing protein 1B isoform X1", "type": "synonym" }, { "name": "BAF250B", "type": "synonym" }, { "name": "BRG1-associated factor 250b", "type": "synonym" } ], "gene_names": [ { "name": "Arid1b", "type": "recommended" }, { "name": "8030481M12", "type": "synonym" }, { "name": "9330189K18Rik", "type": "synonym" }, { "name": "Ardi1b", "type": "synonym" }, { "name": "Arid1b", "type": "synonym" }, { "name": "B230217J03Rik", "type": "synonym" }, { "name": "BAF250B", "type": "synonym" }, { "name": "Baf250b", "type": "synonym" }, { "name": "mKIAA1235", "type": "synonym" } ], "record_id": "E9Q4N7-1", "evidence": [ { "id": "0060041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060041" } ] }, { "uniprot_canonical_ac": "Q9CPW0-1", "uniprot_ac": "Q9CPW0", "uniprot_id": "CNTP2_MOUSE", "refseq_ac": "NP_001004357", "glycoprotein": "yes", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Contactin-associated protein-like 2", "type": "recommended" }, { "name": "Cell recognition molecule Caspr2", "type": "synonym" }, { "name": "cell recognition molecule Caspr2", "type": "synonym" }, { "name": "contactin-associated protein-like 2 isoform a precursor", "type": "synonym" } ], "gene_names": [ { "name": "Cntnap2", "type": "recommended" }, { "name": "5430425M22Rik", "type": "synonym" }, { "name": "Caspr2", "type": "synonym" }, { "name": "Cntnap2", "type": "synonym" }, { "name": "Kiaa0868", "type": "synonym" }, { "name": "mKIAA0868", "type": "synonym" } ], "record_id": "Q9CPW0-1", "evidence": [ { "id": "0060041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060041" } ] }, { "uniprot_canonical_ac": "Q9Z127-1", "uniprot_ac": "Q9Z127", "uniprot_id": "LAT1_MOUSE", "refseq_ac": "NP_035534", "glycoprotein": "yes", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Large neutral amino acids transporter small subunit 1", "type": "recommended" }, { "name": "4F2 LC", "type": "synonym" }, { "name": "4F2 light chain", "type": "synonym" }, { "name": "4F2LC", "type": "synonym" }, { "name": "L-type amino acid transporter 1", "type": "synonym" }, { "name": "LAT1", "type": "synonym" }, { "name": "Solute carrier family 7 member 5", "type": "synonym" }, { "name": "large neutral amino acids transporter small subunit 1", "type": "synonym" }, { "name": "solute carrier family 7 member 5", "type": "synonym" } ], "gene_names": [ { "name": "Slc7a5", "type": "recommended" }, { "name": "4F2LC", "type": "synonym" }, { "name": "D0H16S474E", "type": "synonym" }, { "name": "Gm42049", "type": "synonym" }, { "name": "LAT1", "type": "synonym" }, { "name": "Lat1", "type": "synonym" }, { "name": "Slc7a5", "type": "synonym" }, { "name": "TA1", "type": "synonym" } ], "record_id": "Q9Z127-1", "evidence": [ { "id": "0060041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060041" } ] }, { "uniprot_canonical_ac": "Q9EPQ8-1", "uniprot_ac": "Q9EPQ8", "uniprot_id": "TCF20_MOUSE", "refseq_ac": "NP_001107612", "glycoprotein": "yes", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Transcription factor 20", "type": "recommended" }, { "name": "Nuclear factor SPBP", "type": "synonym" }, { "name": "SPRE-binding protein", "type": "synonym" }, { "name": "Stromelysin-1 PDGF-responsive element-binding protein", "type": "synonym" }, { "name": "TCF-20", "type": "synonym" }, { "name": "nuclear factor SPBP", "type": "synonym" }, { "name": "stromelysin PDGF responsive element binding protein transcription factor", "type": "synonym" }, { "name": "stromelysin-1 PDGF-responsive element-binding protein", "type": "synonym" }, { "name": "transcription factor 20 isoform a", "type": "synonym" } ], "gene_names": [ { "name": "Tcf20", "type": "recommended" }, { "name": "2810438H08Rik", "type": "synonym" }, { "name": "SPBP", "type": "synonym" }, { "name": "Spbp", "type": "synonym" }, { "name": "Tcf20", "type": "synonym" }, { "name": "mKIAA0292", "type": "synonym" } ], "record_id": "Q9EPQ8-1", "evidence": [ { "id": "0060041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060041" } ] }, { "uniprot_canonical_ac": "Q3U5C7-1", "uniprot_ac": "Q3U5C7", "uniprot_id": "PRIC1_MOUSE", "refseq_ac": "NP_001028389", "glycoprotein": "no", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Prickle-like protein 1", "type": "recommended" }, { "name": "prickle homolog 1", "type": "synonym" }, { "name": "prickle-like protein 1", "type": "synonym" } ], "gene_names": [ { "name": "Prickle1", "type": "recommended" }, { "name": "1110058P22Rik", "type": "synonym" }, { "name": "Pk1", "type": "synonym" }, { "name": "Prickle1", "type": "synonym" }, { "name": "Prickle", "type": "synonym" }, { "name": "b2b019Clo", "type": "synonym" }, { "name": "mpk1", "type": "synonym" } ], "record_id": "Q3U5C7-1", "evidence": [ { "id": "0060041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060041" } ] }, { "uniprot_canonical_ac": "Q09XV5-1", "uniprot_ac": "Q09XV5", "uniprot_id": "CHD8_MOUSE", "refseq_ac": "NP_963999", "glycoprotein": "yes", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "ATP-dependent chromatin remodeler CHD8", "type": "recommended" }, { "name": "3.6.4.-", "type": "synonym" }, { "name": "ATP-dependent chromatin remodeler CHD8", "type": "synonym" }, { "name": "ATP-dependent helicase CHD8", "type": "synonym" }, { "name": "Axis duplication inhibitor", "type": "synonym" }, { "name": "CHD-8", "type": "synonym" }, { "name": "Chromo domain-containing protein 8", "type": "synonym" }, { "name": "Duplin", "type": "synonym" }, { "name": "axis duplication inhibitor", "type": "synonym" }, { "name": "chromo domain-containing protein 8", "type": "synonym" }, { "name": "helicase with SNF2 domain 1", "type": "synonym" } ], "gene_names": [ { "name": "Chd8", "type": "recommended" }, { "name": "5830451P18Rik", "type": "synonym" }, { "name": "Chd-8", "type": "synonym" }, { "name": "Chd8", "type": "synonym" }, { "name": "Duplin", "type": "synonym" }, { "name": "HELSNF1", "type": "synonym" }, { "name": "Kiaa1564", "type": "synonym" }, { "name": "mKIAA1564", "type": "synonym" } ], "record_id": "Q09XV5-1", "evidence": [ { "id": "0060041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060041" } ] }, { "uniprot_canonical_ac": "Q8BZ00-1", "uniprot_ac": "Q8BZ00", "uniprot_id": "SL9A9_MOUSE", "refseq_ac": "NP_808577", "glycoprotein": "no", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Sodium/hydrogen exchanger 9", "type": "recommended" }, { "name": "NHE-9", "type": "synonym" }, { "name": "Na(+)/H(+) exchanger 9", "type": "synonym" }, { "name": "Solute carrier family 9 member 9", "type": "synonym" }, { "name": "sodium/hydrogen exchanger 9", "type": "synonym" }, { "name": "solute carrier family 9 member 9", "type": "synonym" } ], "gene_names": [ { "name": "Slc9a9", "type": "recommended" }, { "name": "5730527A11Rik", "type": "synonym" }, { "name": "9930105B05", "type": "synonym" }, { "name": "Nhe9", "type": "synonym" }, { "name": "Slc9a9", "type": "synonym" } ], "record_id": "Q8BZ00-1", "evidence": [ { "id": "0060041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060041" } ] }, { "uniprot_canonical_ac": "Q8CIN4-1", "uniprot_ac": "Q8CIN4", "uniprot_id": "PAK2_MOUSE", "refseq_ac": "NP_796300", "glycoprotein": "yes", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Serine/threonine-protein kinase PAK 2", "type": "recommended" }, { "name": "2.7.11.1", "type": "synonym" }, { "name": "Gamma-PAK", "type": "synonym" }, { "name": "PAK-2", "type": "synonym" }, { "name": "gamma-PAK", "type": "synonym" }, { "name": "p21 protein (Cdc42/Rac)-activated kinase 2", "type": "synonym" }, { "name": "p21-activated kinase 2", "type": "synonym" }, { "name": "serine/threonine-protein kinase PAK 2", "type": "synonym" } ], "gene_names": [ { "name": "Pak2", "type": "recommended" }, { "name": "5330420P17Rik", "type": "synonym" }, { "name": "A130002K10Rik", "type": "synonym" }, { "name": "D16Ertd269e", "type": "synonym" }, { "name": "PAK-2", "type": "synonym" }, { "name": "Pak2", "type": "synonym" }, { "name": "mKIAA4182", "type": "synonym" } ], "record_id": "Q8CIN4-1", "evidence": [ { "id": "0060041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060041" } ] }, { "uniprot_canonical_ac": "Q8BYR5-1", "uniprot_ac": "Q8BYR5", "uniprot_id": "CAPS2_MOUSE", "refseq_ac": "NP_001239034", "glycoprotein": "yes", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Calcium-dependent secretion activator 2", "type": "recommended" }, { "name": "CAPS-2", "type": "synonym" }, { "name": "Calcium-dependent activator protein for secretion 2", "type": "synonym" }, { "name": "calcium-dependent secretion activator 2 isoform 2", "type": "synonym" }, { "name": "calcium-dependent secretion activator 2", "type": "synonym" }, { "name": "cerebellum postnatal development associated protein 2", "type": "synonym" } ], "gene_names": [ { "name": "Cadps2", "type": "recommended" }, { "name": "A230044C21Rik", "type": "synonym" }, { "name": "Cadps2", "type": "synonym" }, { "name": "Caps-2", "type": "synonym" }, { "name": "Caps2", "type": "synonym" }, { "name": "Cpd2", "type": "synonym" } ], "record_id": "Q8BYR5-1", "evidence": [ { "id": "0060041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060041" } ] }, { "uniprot_canonical_ac": "B1AWN6-1", "uniprot_ac": "B1AWN6", "uniprot_id": "SCN2A_MOUSE", "refseq_ac": "NP_001092768", "glycoprotein": "yes", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Sodium channel protein type 2 subunit alpha", "type": "recommended" }, { "name": "Voltage-gated sodium channel subunit alpha Nav1.2", "type": "synonym" }, { "name": "sodium channel protein type 2 subunit alpha isoform 1", "type": "synonym" }, { "name": "sodium channel protein type 2 subunit alpha", "type": "synonym" }, { "name": "sodium channel, voltage-gated, type II, alpha 1", "type": "synonym" }, { "name": "sodium channel, voltage-gated, type II, alpha polypeptide 1", "type": "synonym" }, { "name": "voltage-gated sodium channel subunit alpha Nav1.2", "type": "synonym" } ], "gene_names": [ { "name": "Scn2a", "type": "recommended" }, { "name": "6430408L10", "type": "synonym" }, { "name": "A230052E19Rik", "type": "synonym" }, { "name": "Nav1.2", "type": "synonym" }, { "name": "Scn2a1", "type": "synonym" }, { "name": "Scn2a", "type": "synonym" } ], "record_id": "B1AWN6-1", "evidence": [ { "id": "0060041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060041" } ] }, { "uniprot_canonical_ac": "O35375-1", "uniprot_ac": "O35375", "uniprot_id": "NRP2_MOUSE", "refseq_ac": "NP_001070871", "glycoprotein": "yes", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Neuropilin-2", "type": "recommended" }, { "name": "Vascular endothelial cell growth factor 165 receptor 2", "type": "synonym" }, { "name": "neuropilin-2 isoform 1 precursor", "type": "synonym" }, { "name": "vascular endothelial cell growth factor 165 receptor 2", "type": "synonym" } ], "gene_names": [ { "name": "Nrp2", "type": "recommended" }, { "name": "1110048P06Rik", "type": "synonym" }, { "name": "Np-2", "type": "synonym" }, { "name": "Np2", "type": "synonym" }, { "name": "Npn-2", "type": "synonym" }, { "name": "Npn2", "type": "synonym" }, { "name": "Nrp2", "type": "synonym" } ], "record_id": "O35375-1", "evidence": [ { "id": "0060041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060041" } ] }, { "uniprot_canonical_ac": "P69525-1", "uniprot_ac": "P69525", "uniprot_id": "TMPS9_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": "Transmembrane protease serine 9", "type": "recommended" }, { "name": "3.4.21.-", "type": "synonym" }, { "name": "Polyserase-1", "type": "synonym" }, { "name": "Polyserase-I", "type": "synonym" }, { "name": "Polyserine protease 1", "type": "synonym" } ], "gene_names": [ { "name": "Tmprss9", "type": "recommended" } ], "record_id": "P69525-1", "evidence": [ { "id": "0060041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060041" } ] }, { "uniprot_canonical_ac": "P35438-1", "uniprot_ac": "P35438", "uniprot_id": "NMDZ1_MOUSE", "refseq_ac": "NP_001171127", "glycoprotein": "yes", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Glutamate receptor ionotropic, NMDA 1", "type": "recommended" }, { "name": "GluN1", "type": "synonym" }, { "name": "Glutamate [NMDA] receptor subunit zeta-1", "type": "synonym" }, { "name": "N-methyl-D-aspartate receptor subunit NR1", "type": "synonym" }, { "name": "NMD-R1", "type": "synonym" }, { "name": "glutamate [NMDA] receptor subunit zeta-1", "type": "synonym" }, { "name": "glutamate receptor ionotropic, NMDA 1 isoform 2", "type": "synonym" }, { "name": "glutamate receptor ionotropic, NMDA 1", "type": "synonym" } ], "gene_names": [ { "name": "Grin1", "type": "recommended" }, { "name": "GluN1", "type": "synonym" }, { "name": "GluRdelta1", "type": "synonym" }, { "name": "GluRzeta1", "type": "synonym" }, { "name": "Glurz1", "type": "synonym" }, { "name": "Grin1", "type": "synonym" }, { "name": "M100174", "type": "synonym" }, { "name": "NMD-R1", "type": "synonym" }, { "name": "NMDAR1", "type": "synonym" }, { "name": "NR1", "type": "synonym" }, { "name": "Nmdar", "type": "synonym" }, { "name": "Rgsc174", "type": "synonym" } ], "record_id": "P35438-1", "evidence": [ { "id": "0060041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060041" } ] }, { "uniprot_canonical_ac": "Q8BYM5-1", "uniprot_ac": "Q8BYM5", "uniprot_id": "NLGN3_MOUSE", "refseq_ac": "NP_766520", "glycoprotein": "yes", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Neuroligin-3", "type": "recommended" }, { "name": "Gliotactin homolog", "type": "synonym" }, { "name": "gliotactin homolog", "type": "synonym" }, { "name": "neuroligin 3 protein", "type": "synonym" }, { "name": "neuroligin-3 precursor", "type": "synonym" } ], "gene_names": [ { "name": "Nlgn3", "type": "recommended" }, { "name": "A230085M13Rik", "type": "synonym" }, { "name": "HNL3", "type": "synonym" }, { "name": "NL3", "type": "synonym" }, { "name": "NLG3", "type": "synonym" }, { "name": "Nlgn3", "type": "synonym" } ], "record_id": "Q8BYM5-1", "evidence": [ { "id": "0060041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060041" } ] }, { "uniprot_canonical_ac": "P42866-1", "uniprot_ac": "P42866", "uniprot_id": "OPRM_MOUSE", "refseq_ac": "NP_001034741", "glycoprotein": "yes", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Mu-type opioid receptor", "type": "recommended" }, { "name": "M-OR-1", "type": "synonym" }, { "name": "MOP receptor", "type": "synonym" }, { "name": "MOR-1", "type": "synonym" }, { "name": "mu opioid receptor MOR-1BI", "type": "synonym" }, { "name": "mu opioid receptor MOR-1P", "type": "synonym" }, { "name": "mu-type opioid receptor isoform MOR-1C", "type": "synonym" }, { "name": "mu-type opioid receptor", "type": "synonym" } ], "gene_names": [ { "name": "Oprm1", "type": "recommended" }, { "name": "M-OR-1", "type": "synonym" }, { "name": "MOP-R", "type": "synonym" }, { "name": "MOR-1O", "type": "synonym" }, { "name": "MOR-1", "type": "synonym" }, { "name": "Mor", "type": "synonym" }, { "name": "Oprm1", "type": "synonym" }, { "name": "Oprm", "type": "synonym" }, { "name": "mor", "type": "synonym" }, { "name": "muOR", "type": "synonym" } ], "record_id": "P42866-1", "evidence": [ { "id": "0060041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060041" } ] }, { "uniprot_canonical_ac": "P97464-1", "uniprot_ac": "P97464", "uniprot_id": "EXT1_MOUSE", "refseq_ac": "NP_034292", "glycoprotein": "yes", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Exostosin-1", "type": "recommended" }, { "name": "2.4.1.225", "type": "synonym" }, { "name": "Exostosin glycosyltransferase 1", "type": "synonym" }, { "name": "Multiple exostoses protein 1 homolog", "type": "synonym" }, { "name": "N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase", "type": "synonym" }, { "name": "exostoses (multiple) 1", "type": "synonym" }, { "name": "exostosin-1", "type": "synonym" }, { "name": "glucuronosyl-N-acetylglucosaminyl-proteoglycan/N- acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase", "type": "synonym" }, { "name": "multiple exostoses protein 1 homolog", "type": "synonym" } ], "gene_names": [ { "name": "Ext1", "type": "recommended" }, { "name": "Ext1", "type": "synonym" } ], "record_id": "P97464-1", "evidence": [ { "id": "0060041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060041" } ] }, { "uniprot_canonical_ac": "Q61037-1", "uniprot_ac": "Q61037", "uniprot_id": "TSC2_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": "Tuberin", "type": "recommended" }, { "name": "Tuberous sclerosis 2 protein homolog", "type": "synonym" } ], "gene_names": [ { "name": "Tsc2", "type": "recommended" } ], "record_id": "Q61037-1", "evidence": [ { "id": "0060041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060041" } ] }, { "uniprot_canonical_ac": "A2APX8-1", "uniprot_ac": "A2APX8", "uniprot_id": "SCN1A_MOUSE", "refseq_ac": "NP_001300926", "glycoprotein": "yes", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Sodium channel protein type 1 subunit alpha", "type": "recommended" }, { "name": "Sodium channel protein brain I subunit alpha", "type": "synonym" }, { "name": "Sodium channel protein type I subunit alpha", "type": "synonym" }, { "name": "Voltage-gated sodium channel subunit alpha Nav1.1", "type": "synonym" }, { "name": "sodium channel protein brain I subunit alpha", "type": "synonym" }, { "name": "sodium channel protein type 1 subunit alpha isoform 1", "type": "synonym" }, { "name": "sodium channel protein type 1 subunit alpha", "type": "synonym" }, { "name": "sodium channel protein type I subunit alpha", "type": "synonym" }, { "name": "voltage-gated sodium channel subunit alpha Nav1.1", "type": "synonym" } ], "gene_names": [ { "name": "Scn1a", "type": "recommended" }, { "name": "B230332M13", "type": "synonym" }, { "name": "Nav1.1", "type": "synonym" }, { "name": "Scn1a", "type": "synonym" } ], "record_id": "A2APX8-1", "evidence": [ { "id": "0060041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060041" } ] }, { "uniprot_canonical_ac": "Q91WG4-1", "uniprot_ac": "Q91WG4", "uniprot_id": "ELP2_MOUSE", "refseq_ac": "NP_067423", "glycoprotein": "yes", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Elongator complex protein 2", "type": "recommended" }, { "name": "ELP2", "type": "synonym" }, { "name": "STAT3-interacting protein 1", "type": "synonym" }, { "name": "StIP1", "type": "synonym" }, { "name": "elongation protein 2 homolog", "type": "synonym" }, { "name": "elongator complex protein 2 isoform 1", "type": "synonym" }, { "name": "elongator complex protein 2", "type": "synonym" }, { "name": "signal transducer and activator of transcription 3 interacting protein 1", "type": "synonym" }, { "name": "signal transducer and activator of transcription interacting protein 1", "type": "synonym" } ], "gene_names": [ { "name": "Elp2", "type": "recommended" }, { "name": "Elp2", "type": "synonym" }, { "name": "Epl2", "type": "synonym" }, { "name": "StIP1", "type": "synonym" }, { "name": "Statip1", "type": "synonym" } ], "record_id": "Q91WG4-1", "evidence": [ { "id": "0060041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060041" } ] }, { "uniprot_canonical_ac": "P70323-1", "uniprot_ac": "P70323", "uniprot_id": "TBX1_MOUSE", "refseq_ac": "NP_035662", "glycoprotein": "yes", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "T-box transcription factor TBX1", "type": "recommended" }, { "name": "T-box protein 1", "type": "synonym" }, { "name": "T-box transcription factor TBX1 isoform 1", "type": "synonym" }, { "name": "T-box transcription factor TBX1", "type": "synonym" }, { "name": "Testis-specific T-box protein", "type": "synonym" }, { "name": "testis-specific T-box protein", "type": "synonym" } ], "gene_names": [ { "name": "Tbx1", "type": "recommended" }, { "name": "Tbx1", "type": "synonym" }, { "name": "nmf219", "type": "synonym" } ], "record_id": "P70323-1", "evidence": [ { "id": "0060041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060041" } ] }, { "uniprot_canonical_ac": "Q8JZP2-1", "uniprot_ac": "Q8JZP2", "uniprot_id": "SYN3_MOUSE", "refseq_ac": "NP_038750", "glycoprotein": "yes", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Synapsin-3", "type": "recommended" }, { "name": "Synapsin III", "type": "synonym" }, { "name": "synapsin IIIa", "type": "synonym" }, { "name": "synapsin-3 isoform 1", "type": "synonym" }, { "name": "synapsin-3", "type": "synonym" } ], "gene_names": [ { "name": "Syn3", "type": "recommended" }, { "name": "Syn3", "type": "synonym" } ], "record_id": "Q8JZP2-1", "evidence": [ { "id": "0060041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060041" } ] }, { "uniprot_canonical_ac": "B1AZP2-1", "uniprot_ac": "B1AZP2", "uniprot_id": "DLGP4_MOUSE", "refseq_ac": "NP_001035952", "glycoprotein": "yes", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Disks large-associated protein 4", "type": "recommended" }, { "name": "DAP-4", "type": "synonym" }, { "name": "PSD-95/SAP90-binding protein 4", "type": "synonym" }, { "name": "SAP90/PSD-95-associated protein 4", "type": "synonym" }, { "name": "SAPAP-4", "type": "synonym" }, { "name": "WW domain-binding protein 16", "type": "synonym" }, { "name": "discs, large homolog-associated protein 4", "type": "synonym" }, { "name": "disks large-associated protein 4 isoform b", "type": "synonym" }, { "name": "disks large-associated protein 4", "type": "synonym" } ], "gene_names": [ { "name": "Dlgap4", "type": "recommended" }, { "name": "DAP-4", "type": "synonym" }, { "name": "DAP4", "type": "synonym" }, { "name": "Dlgap4", "type": "synonym" }, { "name": "Kiaa0964", "type": "synonym" }, { "name": "SAPAP-4", "type": "synonym" }, { "name": "Sapap4", "type": "synonym" }, { "name": "WBP16", "type": "synonym" } ], "record_id": "B1AZP2-1", "evidence": [ { "id": "0060041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060041" } ] }, { "uniprot_canonical_ac": "P45481-1", "uniprot_ac": "P45481", "uniprot_id": "CBP_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": "Histone lysine acetyltransferase CREBBP", "type": "recommended" }, { "name": "2.3.1.-", "type": "synonym" }, { "name": "2.3.1.48", "type": "synonym" }, { "name": "Protein lactyltransferas CREBBP", "type": "synonym" }, { "name": "Protein-lysine acetyltransferase CREBBP", "type": "synonym" } ], "gene_names": [ { "name": "Crebbp", "type": "recommended" }, { "name": "Cbp", "type": "synonym" } ], "record_id": "P45481-1", "evidence": [ { "id": "0060041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060041" } ] }, { "uniprot_canonical_ac": "B0F2B4-1", "uniprot_ac": "B0F2B4", "uniprot_id": "NLGN4_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": "Neuroligin 4-like", "type": "recommended" }, { "name": "NL-4", "type": "synonym" }, { "name": "Neuroligin-4", "type": "synonym" } ], "gene_names": [ { "name": "Nlgn4l", "type": "recommended" }, { "name": "Nl4*", "type": "synonym" }, { "name": "Nlgn4x", "type": "synonym" }, { "name": "Nlgn4", "type": "synonym" } ], "record_id": "B0F2B4-1", "evidence": [ { "id": "0060041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060041" } ] }, { "uniprot_canonical_ac": "Q8C033-1", "uniprot_ac": "Q8C033", "uniprot_id": "ARHGA_MOUSE", "refseq_ac": "NP_001032825", "glycoprotein": "yes", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Rho guanine nucleotide exchange factor 10", "type": "recommended" }, { "name": "Rho guanine nucleotide exchange factor (GEF) 10", "type": "synonym" }, { "name": "rho guanine nucleotide exchange factor 10 isoform b", "type": "synonym" } ], "gene_names": [ { "name": "Arhgef10", "type": "recommended" }, { "name": "6430549H08Rik", "type": "synonym" }, { "name": "Arhgef10", "type": "synonym" }, { "name": "Kiaa0294", "type": "synonym" }, { "name": "mKIAA0294", "type": "synonym" } ], "record_id": "Q8C033-1", "evidence": [ { "id": "0060041", 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32", "type": "synonym" }, { "name": "rho/Cdc42/Rac GTPase-activating protein RICS", "type": "synonym" }, { "name": "rhoGAP involved in the beta-catenin-N-cadherin and NMDA receptor signaling", "type": "synonym" } ], "gene_names": [ { "name": "Arhgap32", "type": "recommended" }, { "name": "3426406O18Rik", "type": "synonym" }, { "name": "Arhgap32", "type": "synonym" }, { "name": "Gc-gap", "type": "synonym" }, { "name": "Grit", "type": "synonym" }, { "name": "Kiaa0712", "type": "synonym" }, { "name": "Px-rics", "type": "synonym" }, { "name": "Rics", "type": "synonym" }, { "name": "mKIAA0712", "type": "synonym" }, { "name": "p200Rhogap", "type": "synonym" }, { "name": "p250Gap", "type": "synonym" } ], "record_id": "Q811P8-1", "evidence": [ { "id": "0060041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060041" } ] }, { "uniprot_canonical_ac": "Q8BVL9-1", "uniprot_ac": "Q8BVL9", "uniprot_id": "JKIP1_MOUSE", "refseq_ac": "NP_848481", "glycoprotein": "no", 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"common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Catenin beta-1", "type": "recommended" }, { "name": "Beta-catenin", "type": "synonym" }, { "name": "beta-catenin", "type": "synonym" }, { "name": "catenin (cadherin associated protein), beta 1", "type": "synonym" }, { "name": "catenin beta-1 isoform 1", "type": "synonym" } ], "gene_names": [ { "name": "Ctnnb1", "type": "recommended" }, { "name": "Bfc", "type": "synonym" }, { "name": "Catnb", "type": "synonym" }, { "name": "Ctnnb1", "type": "synonym" }, { "name": "Mesc", "type": "synonym" } ], "record_id": "Q02248-1", "evidence": [ { "id": "0060041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060041" } ] }, { "uniprot_canonical_ac": "Q7TPG6-1", "uniprot_ac": "Q7TPG6", "uniprot_id": "TAFA3_MOUSE", "refseq_ac": "NP_899047", "glycoprotein": "no", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Chemokine-like protein TAFA-3", "type": "recommended" }, { "name": "chemokine-like protein TAFA-3 precursor", "type": "synonym" }, { "name": "chemokine-like protein TAFA-3", "type": "synonym" }, { "name": "family with sequence similarity 19, member A3", "type": "synonym" }, { "name": "protein FAM19A3", "type": "synonym" } ], "gene_names": [ { "name": "Tafa3", "type": "recommended" }, { "name": "7530404M11Rik", "type": "synonym" }, { "name": "Fam19a3", "type": "synonym" }, { "name": "Sam3", "type": "synonym" }, { "name": "Tafa-3", "type": "synonym" }, { "name": "Tafa3", "type": "synonym" } ], "record_id": "Q7TPG6-1", "evidence": [ { "id": "0060041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060041" } ] }, { "uniprot_canonical_ac": "Q9QYE3-1", "uniprot_ac": "Q9QYE3", "uniprot_id": "BC11A_MOUSE", "refseq_ac": "NP_001152761", "glycoprotein": "yes", "species": 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musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "BAR/IMD domain-containing adapter protein 2", "type": "recommended" }, { "name": "BAI-associated protein 2", "type": "synonym" }, { "name": "BAI1-associated protein 2", "type": "synonym" }, { "name": "BAR/IMD domain-containing adapter protein 2 isoform c", "type": "synonym" }, { "name": "BAR/IMD domain-containing adapter protein 2", "type": "synonym" }, { "name": "Brain-specific angiogenesis inhibitor 1-associated protein 2", "type": "synonym" }, { "name": "IRSp53", "type": "synonym" }, { "name": "Insulin receptor substrate p53", "type": "synonym" }, { "name": "Insulin receptor substrate protein of 53 kDa", "type": "synonym" }, { "name": "Insulin receptor tyrosine kinase 53 kDa substrate", "type": "synonym" }, { "name": "insulin receptor substrate p53", "type": "synonym" }, { "name": "insulin receptor substrate protein of 53 kDa", 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carrier-associated membrane protein 3 isoform 1", "type": "synonym" }, { "name": "secretory carrier-associated membrane protein 3", "type": "synonym" } ], "gene_names": [ { "name": "Scamp3", "type": "recommended" }, { "name": "Sc3", "type": "synonym" }, { "name": "Scamp3", "type": "synonym" } ], "record_id": "O35609-1", "evidence": [ { "id": "0060041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060041" } ] }, { "uniprot_canonical_ac": "Q9ESE1-1", "uniprot_ac": "Q9ESE1", "uniprot_id": "LRBA_MOUSE", "refseq_ac": "NP_001071155", "glycoprotein": "yes", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Lipopolysaccharide-responsive and beige-like anchor protein", "type": "recommended" }, { "name": "Beige-like protein", "type": "synonym" }, { "name": "beige-like protein", "type": "synonym" }, { "name": "lipopolysaccharide-responsive and beige-like anchor protein isoform gamma", "type": "synonym" }, { "name": "lipopolysaccharide-responsive and beige-like anchor protein", "type": "synonym" } ], "gene_names": [ { "name": "Lrba", "type": "recommended" }, { "name": "Bgl", "type": "synonym" }, { "name": "D3Ertd775e", "type": "synonym" }, { "name": "Lab300", "type": "synonym" }, { "name": "Lba", "type": "synonym" }, { "name": "Lrba", "type": "synonym" } ], "record_id": "Q9ESE1-1", "evidence": [ { "id": "0060041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060041" } ] }, { "uniprot_canonical_ac": "E9Q2M9-1", "uniprot_ac": "E9Q2M9", "uniprot_id": "WDFY4_MOUSE", "refseq_ac": "XP_006519340", "glycoprotein": "no", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "WD repeat- and FYVE domain-containing protein 4", "type": "recommended" }, { "name": "WD repeat- and FYVE 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receptor 2B", "type": "synonym" }, { "name": "serotonin receptor 2B", "type": "synonym" } ], "gene_names": [ { "name": "Htr2b", "type": "recommended" }, { "name": "5-HT-2B", "type": "synonym" }, { "name": "5-HT-2F", "type": "synonym" }, { "name": "5-HT2B", "type": "synonym" }, { "name": "Htr2b", "type": "synonym" } ], "record_id": "Q02152-1", "evidence": [ { "id": "0060041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060041" } ] }, { "uniprot_canonical_ac": "P98203-1", "uniprot_ac": "P98203", "uniprot_id": "ARVC_MOUSE", "refseq_ac": "NP_001258957", "glycoprotein": "yes", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Splicing regulator ARVCF", "type": "recommended" }, { "name": "Armadillo repeat protein deleted in velo-cardio-facial syndrome homolog", "type": "synonym" }, { "name": "armadillo repeat gene deleted in velo-cardio-facial syndrome", "type": "synonym" }, { "name": "armadillo repeat protein deleted in velo-cardio-facial syndrome homolog", "type": "synonym" }, { "name": "splicing regulator ARVCF isoform 1", "type": "synonym" }, { "name": "splicing regulator ARVCF", "type": "synonym" } ], "gene_names": [ { "name": "Arvcf", "type": "recommended" }, { "name": "Arvcf", "type": "synonym" } ], "record_id": "P98203-1", "evidence": [ { "id": "0060041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060041" } ] }, { "uniprot_canonical_ac": "P45591-1", "uniprot_ac": "P45591", "uniprot_id": "COF2_MOUSE", "refseq_ac": "NP_031714", "glycoprotein": "yes", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Cofilin-2", "type": "recommended" }, { "name": "Cofilin, muscle isoform", "type": "synonym" }, { "name": "cofilin-2", "type": "synonym" } ], 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protein), delta 2 (neural plakophilin-related arm-repeat protein)", "type": "synonym" }, { "name": "catenin delta-2 isoform 1", "type": "synonym" }, { "name": "neural plakophilin-related arm-repeat protein", "type": "synonym" }, { "name": "neurojungin", "type": "synonym" } ], "gene_names": [ { "name": "Ctnnd2", "type": "recommended" }, { "name": "Catnd2", "type": "synonym" }, { "name": "Ctnnd2", "type": "synonym" }, { "name": "Nprap", "type": "synonym" }, { "name": "neurojugin", "type": "synonym" } ], "record_id": "O35927-1", "evidence": [ { "id": "0060041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060041" } ] }, { "uniprot_canonical_ac": "Q9R0P5-1", "uniprot_ac": "Q9R0P5", "uniprot_id": "DEST_MOUSE", "refseq_ac": "NP_062745", "glycoprotein": "yes", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Destrin", "type": "recommended" }, { "name": "ADF", "type": "synonym" }, { "name": "Actin-depolymerizing factor", "type": "synonym" }, { "name": "Sid 23", "type": "synonym" }, { "name": "actin-depolymerizing factor", "type": "synonym" }, { "name": "corneal disease 1", "type": "synonym" }, { "name": "destrin", "type": "synonym" }, { "name": "sid 23", "type": "synonym" } ], "gene_names": [ { "name": "Dstn", "type": "recommended" }, { "name": "2610043P17Rik", "type": "synonym" }, { "name": "ADF", "type": "synonym" }, { "name": "Dsn", "type": "synonym" }, { "name": "Dstn", "type": "synonym" }, { "name": "Sid23", "type": "synonym" }, { "name": "corn1", "type": "synonym" }, { "name": "sid23p", "type": "synonym" } ], "record_id": "Q9R0P5-1", "evidence": [ { "id": "0060041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060041" } ] }, { "uniprot_canonical_ac": "Q9ERN0-1", "uniprot_ac": "Q9ERN0", "uniprot_id": "SCAM2_MOUSE", "refseq_ac": "NP_073724", "glycoprotein": "yes", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Secretory carrier-associated membrane protein 2", "type": "recommended" }, { "name": "Secretory carrier membrane protein 2", "type": "synonym" }, { "name": "secretory carrier-associated membrane protein 2 isoform 2", "type": "synonym" }, { "name": "secretory carrier-associated membrane protein 2", "type": "synonym" } ], "gene_names": [ { "name": "Scamp2", "type": "recommended" }, { "name": "Sc2", "type": "synonym" }, { "name": "Scamp2", "type": "synonym" } ], "record_id": "Q9ERN0-1", "evidence": [ { "id": "0060041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060041" } ] }, { "uniprot_canonical_ac": "Q9JKV5-1", "uniprot_ac": "Q9JKV5", "uniprot_id": "SCAM4_MOUSE", "refseq_ac": "NP_062521", "glycoprotein": "no", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Secretory carrier-associated membrane protein 4", "type": "recommended" }, { "name": "SC4", "type": "synonym" }, { "name": "Secretory carrier membrane protein 4", "type": "synonym" }, { "name": "secretory carrier-associated membrane protein 4", "type": "synonym" } ], "gene_names": [ { "name": "Scamp4", "type": "recommended" }, { "name": "2410022D05Rik", "type": "synonym" }, { "name": "Sc4", "type": "synonym" }, { "name": "Scamp4", "type": "synonym" } ], "record_id": "Q9JKV5-1", "evidence": [ { "id": "0060041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060041" } ] }, { "uniprot_canonical_ac": "P34968-1", "uniprot_ac": "P34968", "uniprot_id": "5HT2C_MOUSE", "refseq_ac": "NP_032338", "glycoprotein": "yes", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], 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"5HT1c", "type": "synonym" }, { "name": "5ht1c", "type": "synonym" }, { "name": "Htr1c", "type": "synonym" }, { "name": "Htr2c", "type": "synonym" }, { "name": "SR1", "type": "synonym" } ], "record_id": "P34968-1", "evidence": [ { "id": "0060041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060041" } ] }, { "uniprot_canonical_ac": "Q68FH0-1", "uniprot_ac": "Q68FH0", "uniprot_id": "PKP4_MOUSE", "refseq_ac": "NP_080637", "glycoprotein": "yes", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Plakophilin-4", "type": "recommended" }, { "name": "Armadillo-related protein", "type": "synonym" }, { "name": "armadillo-related protein", "type": "synonym" }, { "name": "plakophilin-4 isoform 1", "type": "synonym" } ], "gene_names": [ { "name": "Pkp4", "type": "recommended" }, { "name": "5031422I09Rik", "type": "synonym" }, { "name": "9430019K17Rik", "type": "synonym" }, { "name": "Armrp", "type": "synonym" }, { "name": "Pkp4", "type": "synonym" }, { "name": "p0071", "type": "synonym" } ], "record_id": "Q68FH0-1", "evidence": [ { "id": "0060041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060041" } ] }, { "uniprot_canonical_ac": "Q9JLV5-1", "uniprot_ac": "Q9JLV5", "uniprot_id": "CUL3_MOUSE", "refseq_ac": "NP_001300657", "glycoprotein": "yes", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Cullin-3", "type": "recommended" }, { "name": "CUL-3", "type": "synonym" }, { "name": "cullin-3 isoform 2 precursor", "type": "synonym" } ], "gene_names": [ { "name": "Cul3", "type": "recommended" }, { "name": "Cul3", "type": "synonym" }, { "name": "KIAA0617", "type": "synonym" } ], "record_id": "Q9JLV5-1", "evidence": [ { "id": "0060041", "database": "AGR", "url": 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"glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Cold shock domain-containing protein E1", "type": "recommended" }, { "name": "NRAS-related", "type": "synonym" }, { "name": "cold shock domain-containing protein E1 isoform 1", "type": "synonym" }, { "name": "cold shock domain-containing protein E1", "type": "synonym" }, { "name": "upstream of NRAS", "type": "synonym" } ], "gene_names": [ { "name": "Csde1", "type": "recommended" }, { "name": "Csde1", "type": "synonym" }, { "name": "D3Jfr1", "type": "synonym" }, { "name": "mKIAA0885", "type": "synonym" }, { "name": "unr", "type": "synonym" } ], "record_id": "Q91W50-1", "evidence": [ { "id": "0060041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060041" } ] }, { "uniprot_canonical_ac": "Q3UHN9-1", "uniprot_ac": "Q3UHN9", "uniprot_id": "NDST1_MOUSE", "refseq_ac": "NP_001335029", "glycoprotein": "yes", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Bifunctional heparan sulfate N-deacetylase/N-sulfotransferase 1", "type": "recommended" }, { "name": "Glucosaminyl N-deacetylase/N-sulfotransferase 1", "type": "synonym" }, { "name": "HSNST 1", "type": "synonym" }, { "name": "N-HSST 1", "type": "synonym" }, { "name": "N-heparan sulfate sulfotransferase 1", "type": "synonym" }, { "name": "NDST-1", "type": "synonym" }, { "name": "[Heparan sulfate]-glucosamine N-sulfotransferase 1", "type": "synonym" }, { "name": "bifunctional heparan sulfate N-deacetylase/N-sulfotransferase 1 isoform 1", "type": "synonym" }, { "name": "bifunctional heparan sulfate N-deacetylase/N-sulfotransferase 1", "type": "synonym" } ], "gene_names": [ { "name": "Ndst1", "type": "recommended" }, { "name": "1200015G06Rik", "type": "synonym" }, { "name": "HSNST 1", "type": "synonym" }, { "name": "HSNST", "type": "synonym" }, { "name": "Hsst", 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"8030453L17Rik", "type": "synonym" }, { "name": "Ash1l", "type": "synonym" }, { "name": "Ash1", "type": "synonym" }, { "name": "E430018P19Rik", "type": "synonym" }, { "name": "Kmt2h", "type": "synonym" } ], "record_id": "Q99MY8-1", "evidence": [ { "id": "0060041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060041" } ] }, { "uniprot_canonical_ac": "Q9EQZ7-1", "uniprot_ac": "Q9EQZ7", "uniprot_id": "RIMS2_MOUSE", "refseq_ac": "NP_001243313", "glycoprotein": "yes", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Regulating synaptic membrane exocytosis protein 2", "type": "recommended" }, { "name": "RIM 2", "type": "synonym" }, { "name": "Rab-3-interacting molecule 2", "type": "synonym" }, { "name": "Rab-3-interacting protein 2", "type": "synonym" }, { "name": "Rab3 interacting protein 1", "type": "synonym" }, { "name": "Rab3 interacting protein 2", "type": "synonym" }, { "name": "rab-3-interacting protein 2", "type": "synonym" }, { "name": "rab3-interacting protein 2", "type": "synonym" }, { "name": "regulating synaptic membrane exocytosis protein 2 isoform d", "type": "synonym" }, { "name": "regulating synaptic membrane exocytosis protein 2", "type": "synonym" }, { "name": "synaptic exocytosis regulator 2", "type": "synonym" }, { "name": "synaptotagmin 3, related sequence", "type": "synonym" } ], "gene_names": [ { "name": "Rims2", "type": "recommended" }, { "name": "2810036I15Rik", "type": "synonym" }, { "name": "RIM2", "type": "synonym" }, { "name": "Rab3ip2", "type": "synonym" }, { "name": "Rim2(+40A)", "type": "synonym" }, { "name": "Rim2(+44A)", "type": "synonym" }, { "name": "Rim2(+4A)", "type": "synonym" }, { "name": "Rim2", "type": "synonym" }, { "name": "Rims2", "type": "synonym" }, { "name": "Serg2", "type": "synonym" }, { "name": "Syt3-rs", "type": "synonym" }, { "name": "mKIAA0751", "type": "synonym" } ], "record_id": "Q9EQZ7-1", "evidence": [ { "id": "0060041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060041" } ] }, { "uniprot_canonical_ac": "Q8BLV3-1", "uniprot_ac": "Q8BLV3", "uniprot_id": "SL9A7_MOUSE", "refseq_ac": "NP_796327", "glycoprotein": "yes", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Sodium/hydrogen exchanger 7", "type": "recommended" }, { "name": "NHE-7", "type": "synonym" }, { "name": "Na(+)/H(+) exchanger 7", "type": "synonym" }, { "name": "Solute carrier family 9 member 7", "type": "synonym" }, { "name": "sodium/hydrogen exchanger 7", "type": "synonym" } ], "gene_names": [ { "name": "Slc9a7", "type": "recommended" }, { "name": "6330509M05Rik", "type": "synonym" }, { "name": "A530087D17Rik", "type": "synonym" }, { "name": "NHE7", "type": "synonym" }, { "name": "Nhe7", "type": "synonym" }, { "name": "Slc9a7", "type": "synonym" } ], "record_id": "Q8BLV3-1", "evidence": [ { "id": "0060041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060041" } ] }, { "uniprot_canonical_ac": "E9Q8F8-1", "uniprot_ac": "E9Q8F8", "uniprot_id": "E9Q8F8_MOUSE", "refseq_ac": "NP_080734", "glycoprotein": "no", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "ATP-binding cassette transporter sub-family A member 14", "type": "synonym" }, { "name": "ATP-binding cassette, sub-family A (ABC1), member 14", "type": "synonym" }, { "name": "ATP-binding cassette, sub-family A member 14", "type": "synonym" } ], "gene_names": [ { "name": "Abca14", "type": "recommended" }, { "name": "1700110B15Rik", "type": "synonym" }, { "name": "4930539G24Rik", "type": "synonym" }, { "name": "Abca14", "type": "synonym" } ], "record_id": "E9Q8F8-1", "evidence": [ { "id": "0060041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060041" } ] }, { "uniprot_canonical_ac": "Q8BYC6-1", "uniprot_ac": "Q8BYC6", "uniprot_id": "TAOK3_MOUSE", "refseq_ac": "NP_001074777", "glycoprotein": "no", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Serine/threonine-protein kinase TAO3", "type": "recommended" }, { "name": "2.7.11.1", "type": "synonym" }, { "name": "Thousand and one amino acid protein 3", "type": "synonym" }, { "name": "serine/threonine-protein kinase TAO3", "type": "synonym" }, { "name": "thousand and one amino acid protein 3", "type": "synonym" } ], "gene_names": [ { "name": "Taok3", "type": "recommended" }, { "name": "2900006A08Rik", "type": "synonym" }, { "name": "A130052D22", "type": "synonym" }, { "name": "A430105I05Rik", "type": "synonym" }, { "name": "Taok3", "type": "synonym" } ], "record_id": "Q8BYC6-1", "evidence": [ { "id": "0060041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060041" } ] }, { "uniprot_canonical_ac": "Q9R0B6-1", "uniprot_ac": "Q9R0B6", "uniprot_id": "LAMC3_MOUSE", "refseq_ac": "NP_035966", "glycoprotein": "yes", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Laminin subunit gamma-3", "type": "recommended" }, { "name": "Laminin-12 subunit gamma", "type": "synonym" }, { "name": "Laminin-14 subunit gamma", "type": "synonym" }, { "name": "Laminin-15 subunit gamma", "type": "synonym" }, { "name": "laminin subunit gamma-3 precursor", "type": "synonym" }, { "name": "laminin subunit gamma-3", "type": "synonym" }, { "name": "laminin-12 subunit gamma", "type": "synonym" }, { "name": "laminin-14 subunit gamma", "type": "synonym" }, { "name": "laminin-15 subunit gamma", "type": "synonym" } ], "gene_names": [ { "name": "Lamc3", "type": "recommended" }, { "name": "1110064A23Rik", "type": "synonym" }, { "name": "Lamc3", "type": "synonym" } ], "record_id": "Q9R0B6-1", "evidence": [ { "id": "0060041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060041" } ] }, { "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": "0060041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060041" } ] }, { "uniprot_canonical_ac": "Q61584-1", "uniprot_ac": "Q61584", "uniprot_id": "FXR1_MOUSE", "refseq_ac": "NP_001106659", "glycoprotein": "yes", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "RNA-binding protein FXR1", "type": "recommended" }, { "name": "FXR1P", "type": "synonym" }, { "name": "RNA-binding protein FXR1 isoform 1", "type": "synonym" }, { "name": "RNA-binding protein FXR1", "type": "synonym" }, { "name": "mFxr1p", "type": "synonym" } ], "gene_names": [ { "name": "Fxr1", "type": "recommended" }, { "name": "1110050J02Rik", "type": "synonym" }, { "name": "9530073J07Rik", "type": "synonym" }, { "name": "Fxr1h", "type": "synonym" }, { "name": "Fxr1p", "type": "synonym" }, { "name": "Fxr1", "type": "synonym" } ], "record_id": "Q61584-1", "evidence": [ { "id": "0060041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060041" } ] }, { "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": "0060041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060041" } ] }, { "uniprot_canonical_ac": "Q69ZK9-1", "uniprot_ac": "Q69ZK9", "uniprot_id": "NLGN2_MOUSE", "refseq_ac": "NP_942562", "glycoprotein": "yes", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Neuroligin-2", "type": "recommended" }, { "name": "neuroligin-2 precursor", "type": "synonym" }, { "name": "ortholog of human and rat neuroligin 2 NLGN2", "type": "synonym" } ], "gene_names": [ { "name": "Nlgn2", "type": "recommended" }, { "name": "Kiaa1366", "type": "synonym" }, { "name": "NL2", "type": "synonym" }, { "name": "NLG2", "type": "synonym" }, { "name": "Nlgn2", "type": "synonym" } ], "record_id": "Q69ZK9-1", "evidence": [ { "id": "0060041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060041" } ] }, { "uniprot_canonical_ac": "O55192-1", "uniprot_ac": "O55192", "uniprot_id": "SC6A2_MOUSE", "refseq_ac": "NP_033235", "glycoprotein": "yes", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Sodium-dependent noradrenaline transporter", "type": "recommended" }, { "name": "NE transporter", "type": "synonym" }, { "name": "NET", "type": "synonym" }, { "name": "Norepinephrine transporter", "type": "synonym" }, { "name": "Solute carrier family 6 member 2", "type": "synonym" }, { "name": "norepinephrine transporter", "type": "synonym" }, { "name": "sodium-dependent noradrenaline transporter", "type": "synonym" }, { "name": "solute carrier family 6 member 2", "type": "synonym" } ], "gene_names": [ { "name": "Slc6a2", "type": "recommended" }, { "name": "NE-T", "type": "synonym" }, { "name": "NET", "type": "synonym" }, { "name": "Slc6a2", "type": "synonym" }, { "name": "Slc6a5", "type": "synonym" } ], "record_id": "O55192-1", "evidence": [ { "id": "0060041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060041" } ] }, { "uniprot_canonical_ac": "Q9WVR4-1", "uniprot_ac": "Q9WVR4", "uniprot_id": "FXR2_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": "RNA-binding protein FXR2", "type": "recommended" }, { "name": "FXR2P", "type": "synonym" } ], "gene_names": [ { "name": "Fxr2", "type": "recommended" }, { "name": "Fxr2h", "type": "synonym" } ], "record_id": "Q9WVR4-1", "evidence": [ { "id": "0060041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060041" } ] }, { "uniprot_canonical_ac": "O54991-1", "uniprot_ac": "O54991", "uniprot_id": "CNTP1_MOUSE", "refseq_ac": "NP_058062", "glycoprotein": "yes", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Contactin-associated protein 1", "type": "recommended" }, { "name": "Caspr1", "type": "synonym" }, { "name": "Caspr", "type": "synonym" }, { "name": "MHDNIV", "type": "synonym" }, { "name": "NCP1", "type": "synonym" }, { "name": "Neurexin IV", "type": "synonym" }, { "name": "Neurexin-4", "type": "synonym" }, { "name": "Paranodin", "type": "synonym" }, { "name": "caspr1", "type": "synonym" }, { "name": "contactin-associated protein 1 precursor", "type": "synonym" }, { "name": "contactin-associated protein 1", "type": "synonym" }, { "name": "neurexin 4 (contactin associated protein)", "type": "synonym" }, { "name": "neurexin IV", "type": "synonym" }, { "name": "neurexin-4", "type": "synonym" }, { "name": "paranodin", "type": "synonym" } ], "gene_names": [ { "name": "Cntnap1", "type": "recommended" }, { "name": "Caspr", "type": "synonym" }, { "name": "Cntnap1", "type": "synonym" }, { "name": "NCP1", "type": "synonym" }, { "name": "Nrxn4", "type": "synonym" }, { "name": "p190", "type": "synonym" }, { "name": "shm", "type": "synonym" } ], "record_id": "O54991-1", "evidence": [ { "id": "0060041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060041" } ] }, { "uniprot_canonical_ac": "P02468-1", "uniprot_ac": "P02468", "uniprot_id": "LAMC1_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": "Laminin subunit gamma-1", "type": "recommended" }, { "name": "Laminin B2 chain", "type": "synonym" }, { "name": "Laminin-1 subunit gamma", "type": "synonym" }, { "name": "Laminin-10 subunit gamma", "type": "synonym" }, { "name": "Laminin-11 subunit gamma", "type": "synonym" }, { "name": "Laminin-2 subunit gamma", "type": "synonym" }, { "name": "Laminin-3 subunit gamma", "type": "synonym" }, { "name": "Laminin-4 subunit gamma", "type": "synonym" }, { "name": "Laminin-6 subunit gamma", "type": "synonym" }, { "name": "Laminin-7 subunit gamma", "type": "synonym" }, { "name": "Laminin-8 subunit gamma", "type": "synonym" }, { "name": "Laminin-9 subunit gamma", "type": "synonym" }, { "name": "S-LAM gamma", "type": "synonym" }, { "name": "S-laminin subunit gamma", "type": "synonym" } ], "gene_names": [ { "name": "Lamc1", "type": "recommended" }, { "name": "Lamb-2", "type": "synonym" }, { "name": "Lamc-1", "type": "synonym" } ], "record_id": "P02468-1", "evidence": [ { "id": "0060041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060041" } ] }, { "uniprot_canonical_ac": "P17532-1", "uniprot_ac": "P17532", "uniprot_id": "TPH1_MOUSE", "refseq_ac": "NP_001129556", "glycoprotein": "no", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Tryptophan 5-hydroxylase 1", "type": "recommended" }, { "name": "1.14.16.4", "type": "synonym" }, { "name": "Tryptophan 5-monooxygenase 1", "type": "synonym" }, { "name": "tryptophan 5-hydroxylase 1 isoform 1", "type": "synonym" }, { "name": "tryptophan 5-hydroxylase 1", "type": "synonym" }, { "name": "tryptophan 5-monooxygenase 1", "type": "synonym" } ], "gene_names": [ { "name": "Tph1", "type": "recommended" }, { "name": "Tph1", "type": "synonym" }, { "name": "Tph", "type": "synonym" } ], "record_id": "P17532-1", "evidence": [ { "id": "0060041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060041" } ] }, { "uniprot_canonical_ac": "A1L3P4-1", "uniprot_ac": "A1L3P4", "uniprot_id": "SL9A6_MOUSE", "refseq_ac": "NP_766368", "glycoprotein": "yes", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Sodium/hydrogen exchanger 6", "type": "recommended" }, { "name": "NHE-6", "type": "synonym" }, { "name": "Na(+)/H(+) exchanger 6", "type": "synonym" }, { "name": "Sodium/hydrogen exchanger", "type": "synonym" }, { "name": "Solute carrier family 9 member 6", "type": "synonym" }, { "name": "sodium/hydrogen exchanger 6 isoform 1 precursor", "type": "synonym" }, { "name": "sodium/hydrogen exchanger 6", "type": "synonym" }, { "name": "sodium/hydrogen exchanger", "type": "synonym" }, { "name": "solute carrier family 9 member 6", "type": "synonym" } ], "gene_names": [ { "name": "Slc9a6", "type": "recommended" }, { "name": "3732426M05", "type": "synonym" }, { "name": "6430520C02Rik", "type": "synonym" }, { "name": "NHE-6", "type": "synonym" }, { "name": "NHE6", "type": "synonym" }, { "name": "Nhe6", "type": "synonym" }, { "name": "Slc9a6", "type": "synonym" }, { "name": "mKIAA0267", "type": "synonym" } ], "record_id": "A1L3P4-1", "evidence": [ { "id": "0060041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060041" } ] }, { "uniprot_canonical_ac": "E9PX95-1", "uniprot_ac": "E9PX95", "uniprot_id": "ABCAH_MOUSE", "refseq_ac": "NP_001026792", "glycoprotein": "yes", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "ATP-binding cassette sub-family A member 17", "type": "recommended" }, { "name": "ATP-binding cassette sub-family A member 17", "type": "synonym" }, { "name": "ATP-binding cassette, sub-family A (ABC1), member 17", "type": "synonym" } ], "gene_names": [ { "name": "Abca17", "type": "recommended" }, { "name": "Abca17", "type": "synonym" } ], "record_id": "E9PX95-1", "evidence": [ { "id": "0060041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060041" } ] }, { "uniprot_canonical_ac": "Q61092-1", "uniprot_ac": "Q61092", "uniprot_id": "LAMC2_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": "Laminin subunit gamma-2", "type": "recommended" }, { "name": "Epiligrin subunit gamma", "type": "synonym" }, { "name": "Kalinin subunit gamma", "type": "synonym" }, { "name": "Kalinin/nicein/epiligrin 100 kDa subunit", "type": "synonym" }, { "name": "Laminin B2t chain", "type": "synonym" }, { "name": "Laminin-5 subunit gamma", "type": "synonym" }, { "name": "Nicein subunit gamma", "type": "synonym" } ], "gene_names": [ { "name": "Lamc2", "type": "recommended" } ], "record_id": "Q61092-1", "evidence": [ { "id": "0060041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060041" } ] }, { "uniprot_canonical_ac": "Q61327-1", "uniprot_ac": "Q61327", "uniprot_id": "SC6A3_MOUSE", "refseq_ac": "NP_034150", "glycoprotein": "yes", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Sodium-dependent dopamine transporter", "type": "recommended" }, { "name": "DA transporter", "type": "synonym" }, { "name": "DAT", "type": "synonym" }, { "name": "Solute carrier family 6 member 3", "type": "synonym" }, { "name": "dopamine transporter 1", "type": "synonym" }, { "name": "sodium-dependent dopamine transporter", "type": "synonym" } ], "gene_names": [ 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translation initiation factor 4E type 1B", "type": "synonym" } ], "gene_names": [ { "name": "Eif4e1b", "type": "recommended" }, { "name": "Eif4e1b", "type": "synonym" }, { "name": "Eif4eloo", "type": "synonym" }, { "name": "Gm273", "type": "synonym" } ], "record_id": "Q3UTA9-1", "evidence": [ { "id": "0060041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060041" } ] }, { "uniprot_canonical_ac": "Q80UM3-1", "uniprot_ac": "Q80UM3", "uniprot_id": "NAA15_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": "N-alpha-acetyltransferase 15, NatA auxiliary subunit", "type": "recommended" }, { "name": "N-terminal acetyltransferase 1", "type": "synonym" }, { "name": "NMDA receptor-regulated protein 1", "type": "synonym" }, { "name": "Protein tubedown-1", "type": "synonym" } ], "gene_names": [ { "name": "Naa15", "type": "recommended" }, { "name": "Narg1", "type": "synonym" }, { "name": "Nat1", "type": "synonym" }, { "name": "Tbdn-1", "type": "synonym" }, { "name": "Tubedown", "type": "synonym" } ], "record_id": "Q80UM3-1", "evidence": [ { "id": "0060041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060041" } ] }, { "uniprot_canonical_ac": "Q9DBB4-1", "uniprot_ac": "Q9DBB4", "uniprot_id": "NAA16_MOUSE", "refseq_ac": "NP_080108", "glycoprotein": "no", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "N-alpha-acetyltransferase 16, NatA auxiliary subunit", "type": "recommended" }, { "name": "N-alpha-acetyltransferase 16, NatA auxiliary subunit", "type": "synonym" }, { "name": "NARG1-like protein", "type": "synonym" }, { "name": "NMDA receptor-regulated 1-like protein", "type": "synonym" }, { "name": "Nalpha acetyltransferase 16", "type": "synonym" } ], "gene_names": [ { "name": "Naa16", "type": "recommended" }, { "name": "1300019C06Rik", "type": "synonym" }, { "name": "Naa16", "type": "synonym" }, { "name": "Narg1l", "type": "synonym" }, { "name": "Nat2", "type": "synonym" } ], "record_id": "Q9DBB4-1", "evidence": [ { "id": "0060041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060041" } ] }, { "uniprot_canonical_ac": "P41245-1", "uniprot_ac": "P41245", "uniprot_id": "MMP9_MOUSE", "refseq_ac": "NP_038627", "glycoprotein": "yes", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Matrix metalloproteinase-9", "type": "recommended" }, { "name": "3.4.24.35", "type": "synonym" }, { "name": "92 kDa gelatinase", "type": "synonym" }, { "name": "92 kDa type IV collagenase", "type": "synonym" }, { "name": "92kD gelatinase", "type": "synonym" }, { "name": "92kD type IV collagenase", "type": "synonym" }, { "name": "GELB", "type": "synonym" }, { "name": "Gelatinase B", "type": "synonym" }, { "name": "MMP-9", "type": "synonym" }, { "name": "collagenase type IVB", "type": "synonym" }, { "name": "gelatinase B", "type": "synonym" }, { "name": "matrix metalloproteinase-9 preproprotein", "type": "synonym" }, { "name": "matrix metalloproteinase-9", "type": "synonym" } ], "gene_names": [ { "name": "Mmp9", "type": "recommended" }, { "name": "B/MMP9", "type": "synonym" }, { "name": "Clg4b", "type": "synonym" }, { "name": "Gel B", "type": "synonym" }, { "name": "MMP-9", "type": "synonym" }, { "name": "Mmp9", "type": "synonym" }, { "name": "pro-MMP-9", "type": "synonym" } ], "record_id": "P41245-1", "evidence": [ { "id": "0060041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060041" } ] }, { "uniprot_canonical_ac": "Q01147-2", "uniprot_ac": "Q01147", "uniprot_id": "CREB1_MOUSE", "refseq_ac": "NP_034082", 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"id": "0060041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060041" } ] }, { "uniprot_canonical_ac": "Q69Z98-1", "uniprot_ac": "Q69Z98", "uniprot_id": "BRSK2_MOUSE", "refseq_ac": "NP_001009929", "glycoprotein": "yes", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Serine/threonine-protein kinase BRSK2", "type": "recommended" }, { "name": "2.7.11.1", "type": "synonym" }, { "name": "2.7.11.26", "type": "synonym" }, { "name": "BR serine/threonine-protein kinase 2", "type": "synonym" }, { "name": "Brain-specific serine/threonine-protein kinase 2", "type": "synonym" }, { "name": "Serine/threonine-protein kinase SAD-A", "type": "synonym" }, { "name": "brain-specific serine/threonine-protein kinase 2", "type": "synonym" }, { "name": "serine/threonine-protein kinase BRSK2 isoform beta", "type": "synonym" }, { "name": 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], "gene_names": [ { "name": "Scgn", "type": "recommended" }, { "name": "Scgn", "type": "synonym" } ], "record_id": "Q91WD9-1", "evidence": [ { "id": "0060041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060041" } ] }, { "uniprot_canonical_ac": "Q8VII8-1", "uniprot_ac": "Q8VII8", "uniprot_id": "MCR_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": "Mineralocorticoid receptor", "type": "recommended" }, { "name": "MR", "type": "synonym" }, { "name": "Nuclear receptor subfamily 3 group C member 2", "type": "synonym" } ], "gene_names": [ { "name": "Nr3c2", "type": "recommended" }, { "name": "Mlr", "type": "synonym" } ], "record_id": "Q8VII8-1", "evidence": [ { "id": "0060041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060041" } ] }, { 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subunit", "type": "synonym" }, { "name": "adapter-related protein complex 2 alpha-1 subunit", "type": "synonym" }, { "name": "adapter-related protein complex 2 subunit alpha-1", "type": "synonym" }, { "name": "adaptor protein complex AP-2 subunit alpha-1", "type": "synonym" }, { "name": "adaptor protein complex AP-2, alpha 1 subunit", "type": "synonym" }, { "name": "adaptor-related protein complex 2 subunit alpha-1", "type": "synonym" }, { "name": "adaptor-related protein complex AP-2, alpha 1 subunit", "type": "synonym" }, { "name": "alpha-adaptin A", "type": "synonym" }, { "name": "alpha1-adaptin", "type": "synonym" }, { "name": "clathrin assembly protein complex 2 alpha-A large chain", "type": "synonym" }, { "name": "plasma membrane adaptor HA2/AP2 adaptin alpha A subunit", "type": "synonym" } ], "gene_names": [ { "name": "Ap2a1", "type": "recommended" }, { "name": "Adtaa", "type": "synonym" }, { "name": "Ap2a1", "type": "synonym" }, { "name": "Clapa1", "type": "synonym" } ], 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AP-2 17 kDa protein", "type": "synonym" }, { "name": "Sigma-adaptin 3b", "type": "synonym" }, { "name": "Sigma2-adaptin", "type": "synonym" }, { "name": "adapter-related protein complex 2 sigma subunit", "type": "synonym" }, { "name": "adapter-related protein complex 2 subunit sigma", "type": "synonym" }, { "name": "adaptor protein complex AP-2 subunit sigma", "type": "synonym" }, { "name": "adaptor-related protein complex 2 subunit sigma", "type": "synonym" }, { "name": "clathrin assembly protein 2 sigma small chain", "type": "synonym" }, { "name": "clathrin assembly protein 2 small chain", "type": "synonym" }, { "name": "clathrin coat assembly protein AP17", "type": "synonym" }, { "name": "clathrin coat-associated protein AP17", "type": "synonym" }, { "name": "plasma membrane adaptor AP-2 17 kDa protein", "type": "synonym" }, { "name": "sigma-adaptin 3b", "type": "synonym" }, { "name": "sigma2-adaptin", "type": "synonym" } ], "gene_names": [ { "name": "Ap2s1", "type": "recommended" }, { "name": "Ap17", "type": "synonym" }, { "name": "Ap2s1", "type": "synonym" }, { "name": "Claps2", "type": "synonym" } ], "record_id": "P62743-1", "evidence": [ { "id": "0060041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060041" } ] }, { "uniprot_canonical_ac": "Q91ZP9-1", "uniprot_ac": "Q91ZP9", "uniprot_id": "NECA2_MOUSE", "refseq_ac": "NP_473436", "glycoprotein": "yes", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "N-terminal EF-hand calcium-binding protein 2", "type": "recommended" }, { "name": "EF hand calcium binding protein 2", "type": "synonym" }, { "name": "EF-hand calcium-binding protein 2", "type": "synonym" }, { "name": "N-terminal EF-hand calcium-binding protein 2", "type": "synonym" }, { "name": "Neuronal calcium-binding protein 2", "type": "synonym" }, { "name": "neuronal calcium binding 2", "type": "synonym" }, { "name": "neuronal calcium-binding protein 2", "type": "synonym" } ], "gene_names": [ { "name": "Necab2", "type": "recommended" }, { "name": "Efcbp2", "type": "synonym" }, { "name": "Necab2", "type": "synonym" } ], "record_id": "Q91ZP9-1", "evidence": [ { "id": "0060041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060041" } ] }, { "uniprot_canonical_ac": "Q9D3R6-1", "uniprot_ac": "Q9D3R6", "uniprot_id": "KATL2_MOUSE", "refseq_ac": "NP_081997", "glycoprotein": "yes", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Katanin p60 ATPase-containing subunit A-like 2", "type": "recommended" }, { "name": "5.6.1.1", "type": "synonym" }, { "name": "Katanin p60 subunit A-like 2", "type": "synonym" }, { "name": "katanin p60 ATPase-containing subunit A-like 2 isoform 4", "type": "synonym" }, { "name": "katanin p60 ATPase-containing subunit A-like 2", "type": "synonym" }, { "name": "p60 katanin-like 2", "type": "synonym" } ], "gene_names": [ { "name": "Katnal2", "type": "recommended" }, { "name": "3110023G01Rik", "type": "synonym" }, { "name": "4933439B08Rik", "type": "synonym" }, { "name": "KATNAL2", "type": "synonym" }, { "name": "Katnal2", "type": "synonym" } ], "record_id": "Q9D3R6-1", "evidence": [ { "id": "0060041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060041" } ] }, { "uniprot_canonical_ac": "P48320-1", "uniprot_ac": "P48320", "uniprot_id": "DCE2_MOUSE", "refseq_ac": "NP_032104", "glycoprotein": "yes", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Glutamate decarboxylase 2", "type": "recommended" }, { "name": "4.1.1.15", "type": "synonym" }, { "name": "65 kDa glutamic acid decarboxylase", "type": "synonym" }, { "name": "GAD-65", "type": "synonym" }, { "name": "Glutamate decarboxylase 65 kDa isoform", "type": "synonym" }, { "name": "glutamate decarboxylase 2", "type": "synonym" } ], "gene_names": [ { "name": "Gad2", "type": "recommended" }, { "name": "6330404F12Rik", "type": "synonym" }, { "name": "GAD(65)", "type": "synonym" }, { "name": "GAD65", "type": "synonym" }, { "name": "Gad-2", "type": "synonym" }, { "name": "Gad2", "type": "synonym" }, { "name": "Gad65", "type": "synonym" } ], "record_id": "P48320-1", "evidence": [ { "id": "0060041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060041" } ] }, { "uniprot_canonical_ac": "P21237-1", "uniprot_ac": "P21237", "uniprot_id": "BDNF_MOUSE", "refseq_ac": "NP_001041604", "glycoprotein": "yes", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Neurotrophic factor BDNF precursor form", "type": "recommended" }, { "name": "Brain-derived neurotrophic factor", "type": "synonym" }, { "name": "neurotrophic factor BDNF precursor form isoform 2 preproprotein", "type": "synonym" }, { "name": "neurotrophic factor BDNF precursor form", "type": "synonym" }, { "name": "proBDNF", "type": "synonym" } ], "gene_names": [ { "name": "Bdnf", "type": "recommended" }, { "name": "Bdnf", "type": "synonym" } ], "record_id": "P21237-1", "evidence": [ { "id": "0060041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060041" } ] }, { "uniprot_canonical_ac": "Q8BGD9-1", "uniprot_ac": "Q8BGD9", "uniprot_id": "IF4B_MOUSE", "refseq_ac": "NP_663600", "glycoprotein": "yes", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Eukaryotic translation initiation factor 4B", "type": "recommended" }, { "name": "eIF-4B", "type": "synonym" }, { "name": "eukaryotic translation initiation factor 4B", "type": "synonym" } ], "gene_names": [ { "name": "Eif4b", "type": "recommended" }, { "name": "2310046H11Rik", "type": "synonym" }, { "name": "Eif4a2", "type": "synonym" }, { "name": "Eif4b", "type": "synonym" } ], "record_id": "Q8BGD9-1", "evidence": [ { "id": "0060041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060041" } ] }, { "uniprot_canonical_ac": "P97812-1", "uniprot_ac": "P97812", "uniprot_id": "IHH_MOUSE", "refseq_ac": "NP_034674", "glycoprotein": "yes", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Indian hedgehog protein", "type": "recommended" }, { "name": "3.1.-.-", "type": "synonym" }, { "name": "HHG-2", "type": "synonym" }, { "name": "IHH", "type": "synonym" }, { "name": "indian hedgehog protein isoform 1 preproprotein", "type": "synonym" }, { "name": "indian hedgehog protein", "type": "synonym" } ], "gene_names": [ { "name": "Ihh", "type": "recommended" }, { "name": "HHG-2", "type": "synonym" }, { "name": "Ihh", "type": "synonym" } ], "record_id": "P97812-1", "evidence": [ { "id": "0060041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060041" } ] }, { "uniprot_canonical_ac": "P35377-1", "uniprot_ac": "P35377", "uniprot_id": "OPRX_MOUSE", "refseq_ac": "NP_001239494", "glycoprotein": "yes", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Nociceptin receptor", "type": "recommended" }, { "name": "K3 opiate receptor", "type": "synonym" }, { "name": "KOR-3", "type": "synonym" }, { "name": "Kappa-type 3 opioid receptor", "type": "synonym" }, { "name": "N/OFQ receptor", "type": "synonym" }, { "name": "ORGC", "type": "synonym" }, { "name": "Orphanin FQ receptor", "type": "synonym" }, { "name": "kappa-type 3 opioid receptor", "type": "synonym" }, { "name": "nociceptin receptor isoform 1", "type": "synonym" }, { "name": "nociceptin receptor", "type": "synonym" }, { "name": "nociceptin/ orphaninFQ receptor", "type": "synonym" } ], "gene_names": [ { "name": "Oprl1", "type": "recommended" }, { "name": "KOR-3", "type": "synonym" }, { "name": "KOR3", "type": "synonym" }, { "name": "LC132", "type": "synonym" }, { "name": "MOR-C", "type": "synonym" }, { "name": "NOP", "type": "synonym" }, { "name": "ORGC", "type": "synonym" }, { "name": "ORL1", "type": "synonym" }, { "name": "Oor", "type": "synonym" }, { "name": "Oprl1", "type": "synonym" }, { "name": "Oprl", "type": "synonym" }, { "name": "XOR1", "type": "synonym" }, { "name": "morc", "type": "synonym" } ], "record_id": "P35377-1", "evidence": [ { "id": "0060041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060041" } ] }, { "uniprot_canonical_ac": "Q62226-1", "uniprot_ac": "Q62226", "uniprot_id": "SHH_MOUSE", "refseq_ac": "NP_033196", "glycoprotein": "yes", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Sonic hedgehog protein", "type": "recommended" }, { "name": "3.1.-.-", "type": "synonym" }, { "name": "HHG-1", "type": "synonym" }, { "name": "SHH", "type": "synonym" }, { "name": "Shh N-terminal processed signaling domains", "type": "synonym" }, { "name": "Shh unprocessed N-terminal signaling and C-terminal autoprocfretinaessing domains", "type": "synonym" }, { "name": "ShhNC", "type": "synonym" }, { "name": "ShhNp", "type": "synonym" }, { "name": "Sonic hedgehog protein 19 kDa product", "type": "synonym" }, { "name": "hemimelic extra toes", "type": "synonym" }, { "name": "shh unprocessed N-terminal signaling and C-terminal autoprocessing domains", "type": "synonym" }, { "name": "short digits", "type": "synonym" }, { "name": "sonic hedgehog protein isoform 1 precursor", "type": "synonym" }, { "name": "sonic hedgehog protein", "type": "synonym" } ], "gene_names": [ { "name": "Shh", "type": "recommended" }, { "name": "9530036O11Rik", "type": "synonym" }, { "name": "Dsh", "type": "synonym" }, { "name": "HHG-1", "type": "synonym" }, { "name": "Hhg1", "type": "synonym" }, { "name": "Hxl3", "type": "synonym" }, { "name": "Hx", "type": "synonym" }, { "name": "M100081", "type": "synonym" }, { "name": "ShhNC", "type": "synonym" }, { "name": "Shh", "type": "synonym" } ], "record_id": "Q62226-1", "evidence": [ { "id": "0060041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060041" } ] }, { "uniprot_canonical_ac": "Q8BH59-1", "uniprot_ac": "Q8BH59", "uniprot_id": "S2512_MOUSE", "refseq_ac": "NP_766024", "glycoprotein": "yes", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Electrogenic aspartate/glutamate antiporter SLC25A12, mitochondrial", "type": "recommended" }, { "name": "Solute carrier family 25 member 12", "type": "synonym" }, { "name": "calcium-binding mitochondrial carrier protein Aralar1", "type": "synonym" }, { "name": "electrogenic aspartate/glutamate antiporter SLC25A12, mitochondrial", "type": "synonym" }, { "name": "mitochondrial aspartate glutamate carrier 1", "type": "synonym" } ], "gene_names": [ { "name": "Slc25a12", "type": "recommended" }, { "name": "2610002D09Rik", "type": "synonym" }, { "name": "B230107K20Rik", "type": "synonym" }, { "name": "Slc25a12", "type": "synonym" } ], "record_id": "Q8BH59-1", "evidence": [ { "id": "0060041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060041" } ] }, { "uniprot_canonical_ac": "Q60604-1", "uniprot_ac": "Q60604", "uniprot_id": "SCIN_MOUSE", "refseq_ac": "NP_001139668", "glycoprotein": "no", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Scinderin", "type": "recommended" }, { "name": "Adseverin", "type": "synonym" }, { "name": "Gelsolin-like protein", "type": "synonym" }, { "name": "gelsolin-like protein", "type": "synonym" }, { "name": "scinderin isoform 1", "type": "synonym" } ], "gene_names": [ { "name": "Scin", "type": "recommended" }, { "name": "Scin", "type": "synonym" }, { "name": "adseverin", "type": "synonym" } ], "record_id": "Q60604-1", "evidence": [ { "id": "0060041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060041" } ] }, { "uniprot_canonical_ac": "P47089-1", "uniprot_ac": "P47089", "uniprot_id": "DENR_YEAST", "refseq_ac": "NP_012548", "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": "Translation machinery-associated protein 22", "type": "recommended" }, { "name": "Density-regulated protein homolog", "type": "synonym" }, { "name": "Tma22p", "type": "synonym" } ], "gene_names": [ { "name": "TMA22", "type": "recommended" }, { "name": "J1446", "type": "synonym" }, { "name": "RBF22", "type": "synonym" }, { "name": "TMA22", "type": "synonym" }, { "name": "YJR83.12", "type": "synonym" } ], "record_id": "P47089-1", "evidence": [ { "id": "0060041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060041" } ] }, { "uniprot_canonical_ac": "Q03653-1", "uniprot_ac": "Q03653", "uniprot_id": "EFR3_YEAST", "refseq_ac": "NP_013939", "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": "Protein EFR3", "type": "recommended" }, { "name": "Efr3p", "type": "synonym" } ], "gene_names": [ { "name": "EFR3", "type": "recommended" }, { "name": "EFR3", "type": "synonym" }, { "name": "YM8261.06C", "type": "synonym" } ], "record_id": "Q03653-1", "evidence": [ { "id": "0060041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060041" } ] }, { "uniprot_canonical_ac": "Q02931-1", "uniprot_ac": "Q02931", "uniprot_id": "UTP17_YEAST", "refseq_ac": "NP_015199", "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": "NET1-associated nuclear protein 1", "type": "recommended" }, { "name": "Nan1p", "type": "synonym" }, { "name": "U three protein 17", "type": "synonym" }, { "name": "U3 protein 17 required for transcription", "type": "synonym" }, { "name": "U3 small nucleolar RNA-associated protein 17", "type": "synonym" }, { "name": "U3 snoRNA-associated protein 17", "type": "synonym" }, { "name": "t-17", "type": "synonym" } ], "gene_names": [ { "name": "NAN1", "type": "recommended" }, { "name": "NAN1", "type": "synonym" }, { "name": "UTP17", "type": "synonym" } ], "record_id": "Q02931-1", "evidence": [ { "id": "0060041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060041" } ] }, { "uniprot_canonical_ac": "P11655-1", "uniprot_ac": "P11655", "uniprot_id": "SEC12_YEAST", "refseq_ac": "NP_014423", "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": "Guanine nucleotide-exchange factor SEC12", "type": "recommended" }, { "name": "Protein transport protein SEC12", "type": "synonym" }, { "name": "Sar family guanine nucleotide exchange factor SEC12", "type": "synonym" } ], "gene_names": [ { "name": "SEC12", "type": "recommended" }, { "name": "N3244", "type": "synonym" }, { "name": "SEC12", "type": "synonym" }, { "name": "SED2", "type": "synonym" } ], "record_id": "P11655-1", "evidence": [ { "id": "0060041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060041" } ] }, { "uniprot_canonical_ac": "P12945-1", "uniprot_ac": "P12945", "uniprot_id": "NAT1_YEAST", "refseq_ac": "NP_010244", "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": "N-terminal acetyltransferase A complex subunit NAT1", "type": "recommended" }, { "name": "Amino-terminal, alpha-amino, acetyltransferase 1", "type": "synonym" }, { "name": "NatA complex subunit NAT1", "type": "synonym" }, { "name": "peptide alpha-N-acetyltransferase complex A subunit NAT1", "type": "synonym" } ], 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"name": "translation initiation factor eIF4E", "type": "synonym" } ], "gene_names": [ { "name": "CDC33", "type": "recommended" }, { "name": "CDC33", "type": "synonym" }, { "name": "TIF45", "type": "synonym" } ], "record_id": "P07260-1", "evidence": [ { "id": "0060041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060041" } ] }, { "uniprot_canonical_ac": "P50264-1", "uniprot_ac": "P50264", "uniprot_id": "FMS1_YEAST", "refseq_ac": "NP_013733", "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": "Polyamine oxidase FMS1", "type": "recommended" }, { "name": "1.5.3.17", "type": "synonym" }, { "name": "Fenpropimorph resistance multicopy suppressor 1", "type": "synonym" }, { "name": "polyamine oxidase", "type": "synonym" } ], "gene_names": [ { "name": "FMS1", "type": "recommended" }, { "name": "FMS1", "type": "synonym" }, { "name": "YM9711.09", "type": "synonym" } ], "record_id": "P50264-1", "evidence": [ { "id": "0060041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060041" } ] }, { "uniprot_canonical_ac": "P53202-1", "uniprot_ac": "P53202", "uniprot_id": "CUL3_YEAST", "refseq_ac": "NP_011517", "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": "Cullin-3", "type": "recommended" }, { "name": "Cullin-B", "type": "synonym" }, { "name": "cullin CUL3", "type": "synonym" } ], "gene_names": [ { "name": "CUL3", "type": "recommended" }, { "name": "CUL3", "type": "synonym" } ], "record_id": "P53202-1", "evidence": [ { "id": "0060041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060041" } ] }, { 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559292, "common_name": "Baker's yeast", "glygen_name": "Yeast", "reference_species": "Saccharomyces cerevisiae S288C [559292]" } ], "protein_names": [ { "name": "Beige protein homolog 1", "type": "recommended" }, { "name": "Bph1p", "type": "synonym" } ], "gene_names": [ { "name": "BPH1", "type": "recommended" }, { "name": "BPH1", "type": "synonym" }, { "name": "YCR32W", "type": "synonym" }, { "name": "YCR591", "type": "synonym" }, { "name": "YCR601", "type": "synonym" } ], "record_id": "P25356-1", "evidence": [ { "id": "0060041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060041" } ] }, { "uniprot_canonical_ac": "P32657-1", "uniprot_ac": "P32657", "uniprot_id": "CHD1_YEAST", "refseq_ac": "NP_011091", "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": "ATP-dependent chromatin remodeler CHD1", "type": "recommended" }, { "name": "3.6.4.-", "type": "synonym" }, { "name": "Chromo domain-containing protein 1", "type": "synonym" }, { "name": "Chromodomain helicase-like DNA-binding protein 1", "type": "synonym" }, { "name": "chromatin-remodeling ATPase CHD1", "type": "synonym" } ], "gene_names": [ { "name": "CHD1", "type": "recommended" }, { "name": "CHD1", "type": "synonym" }, { "name": "SYGP-ORF4", "type": "synonym" } ], "record_id": "P32657-1", "evidence": [ { "id": "0060041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060041" } ] }, { "uniprot_canonical_ac": "Q04121-1", "uniprot_ac": "Q04121", "uniprot_id": "NHX1_YEAST", "refseq_ac": "NP_010744", "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": "Endosomal/prevacuolar sodium/hydrogen exchanger", "type": "recommended" }, { "name": "Endosomal/prevacuolar Na(+)/H(+) exchanger", "type": "synonym" }, { "name": "Vacuolar protein sorting-associated protein 44", "type": "synonym" }, { "name": "bifunctional K:H/Na:H antiporter NHX1", "type": "synonym" } ], "gene_names": [ { "name": "NHX1", "type": "recommended" }, { "name": "D9461.40", "type": "synonym" }, { "name": "NHA2", "type": "synonym" }, { "name": "NHX1", "type": "synonym" }, { "name": "VPL27", "type": "synonym" }, { "name": "VPS44", "type": "synonym" } ], "record_id": "Q04121-1", "evidence": [ { "id": "0060041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060041" } ] }, { "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": "0060041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060041" } ] }, { "uniprot_canonical_ac": "Q12224-1", "uniprot_ac": "Q12224", "uniprot_id": "RLM1_YEAST", "refseq_ac": "NP_015236", "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": "Transcription factor RLM1", "type": "recommended" }, { "name": "Rlm1p", "type": "synonym" } ], "gene_names": [ { "name": "RLM1", "type": "recommended" }, { "name": "LPG19C", "type": "synonym" }, { "name": "RLM1", "type": "synonym" } ], "record_id": "Q12224-1", "evidence": [ { "id": "0060041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060041" } ] }, { "uniprot_canonical_ac": "P38128-1", "uniprot_ac": "P38128", "uniprot_id": "SMP1_YEAST", "refseq_ac": "NP_009741", "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": "Transcription factor SMP1", "type": "recommended" }, { "name": "Smp1p", "type": "synonym" } ], "gene_names": [ { "name": "SMP1", "type": 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"https://www.alliancegenome.org/disease/DOID:0060041" } ] }, { "uniprot_canonical_ac": "Q12263-1", "uniprot_ac": "Q12263", "uniprot_id": "GIN4_YEAST", "refseq_ac": "NP_010795", "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": "Serine/threonine-protein kinase GIN4", "type": "recommended" }, { "name": "2.7.11.1", "type": "synonym" }, { "name": "Growth inhibitory protein 4", "type": "synonym" }, { "name": "protein kinase GIN4", "type": "synonym" } ], "gene_names": [ { "name": "GIN4", "type": "recommended" }, { "name": "D9719.13", "type": "synonym" }, { "name": "ERC47", "type": "synonym" }, { "name": "GIN4", "type": "synonym" } ], "record_id": "Q12263-1", "evidence": [ { "id": "0060041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060041" } ] }, { 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"0060041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060041" } ] }, { "uniprot_canonical_ac": "P34167-1", "uniprot_ac": "P34167", "uniprot_id": "IF4B_YEAST", "refseq_ac": "NP_015489", "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": "Eukaryotic translation initiation factor 4B", "type": "recommended" }, { "name": "Tif3p", "type": "synonym" }, { "name": "eIF-4B", "type": "synonym" } ], "gene_names": [ { "name": "TIF3", "type": "recommended" }, { "name": "P9325.6", "type": "synonym" }, { "name": "RBL3", "type": "synonym" }, { "name": "STM1", "type": "synonym" }, { "name": "TIF3", "type": "synonym" }, { "name": "TIF42", "type": "synonym" } ], "record_id": "P34167-1", "evidence": [ { "id": "0060041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060041" } ] }, { "uniprot_canonical_ac": "Q12482-1", "uniprot_ac": "Q12482", "uniprot_id": "AGC1_YEAST", "refseq_ac": "NP_015346", "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": "Mitochondrial aspartate-glutamate transporter AGC1", "type": "recommended" }, { "name": "Aspartate-glutamate carrier 1", "type": "synonym" }, { "name": "citrin", "type": "synonym" } ], "gene_names": [ { "name": "AGC1", "type": "recommended" }, { "name": "AGC1", "type": "synonym" }, { "name": "YP9367.01C", "type": "synonym" } ], "record_id": "Q12482-1", "evidence": [ { "id": "0060041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060041" } ] }, { "uniprot_canonical_ac": "P53916-1", "uniprot_ac": "P53916", "uniprot_id": "TEP1_YEAST", 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"name": "Saccharomyces cerevisiae S288C", "taxid": 559292, "common_name": "Baker's yeast", "glygen_name": "Yeast", "reference_species": "Saccharomyces cerevisiae S288C [559292]" } ], "protein_names": [ { "name": "Vesicular-fusion protein SEC18", "type": "recommended" }, { "name": "AAA family ATPase SEC18", "type": "synonym" } ], "gene_names": [ { "name": "SEC18", "type": "recommended" }, { "name": "ANU4", "type": "synonym" }, { "name": "SEC18", "type": "synonym" }, { "name": "YBR0736", "type": "synonym" } ], "record_id": "P18759-1", "evidence": [ { "id": "0060041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060041" } ] }, { "uniprot_canonical_ac": "P16892-1", "uniprot_ac": "P16892", "uniprot_id": "FUS3_YEAST", "refseq_ac": "NP_009537", "glycoprotein": "no", "species": [ { "name": "Saccharomyces cerevisiae S288C", "taxid": 559292, "common_name": "Baker's yeast", "glygen_name": "Yeast", "reference_species": "Saccharomyces cerevisiae S288C [559292]" } ], 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"recommended" }, { "name": "Mup3p", "type": "synonym" } ], "gene_names": [ { "name": "MUP3", "type": "recommended" }, { "name": "MUP3", "type": "synonym" } ], "record_id": "P38734-1", "evidence": [ { "id": "0060041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060041" } ] }, { "uniprot_canonical_ac": "Q03497-1", "uniprot_ac": "Q03497", "uniprot_id": "STE20_YEAST", "refseq_ac": "NP_011856", "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": "Serine/threonine-protein kinase STE20", "type": "recommended" }, { "name": "2.7.11.1", "type": "synonym" }, { "name": "mitogen-activated protein kinase kinase kinase kinase STE20", "type": "synonym" } ], "gene_names": [ { "name": "STE20", "type": "recommended" }, { "name": "STE20", "type": "synonym" } ], "record_id": "Q03497-1", "evidence": [ { "id": "0060041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060041" } ] }, { "uniprot_canonical_ac": "P48562-1", "uniprot_ac": "P48562", "uniprot_id": "CLA4_YEAST", "refseq_ac": "NP_014101", "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": "Serine/threonine-protein kinase CLA4", "type": "recommended" }, { "name": "2.7.11.1", "type": "synonym" }, { "name": "serine/threonine protein kinase CLA4", "type": "synonym" } ], "gene_names": [ { "name": "CLA4", "type": "recommended" }, { "name": "CLA4", "type": "synonym" }, { "name": "ERC10", "type": "synonym" }, { "name": "N0450", "type": "synonym" } ], "record_id": "P48562-1", "evidence": [ { "id": "0060041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060041" } ] 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S288C", "taxid": 559292, "common_name": "Baker's yeast", "glygen_name": "Yeast", "reference_species": "Saccharomyces cerevisiae S288C [559292]" } ], "protein_names": [ { "name": "High-affinity methionine permease", "type": "recommended" }, { "name": "Mup1p", "type": "synonym" } ], "gene_names": [ { "name": "MUP1", "type": "recommended" }, { "name": "MUP1", "type": "synonym" } ], "record_id": "P50276-1", "evidence": [ { "id": "0060041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060041" } ] }, { "uniprot_canonical_ac": "P53170-1", "uniprot_ac": "P53170", "uniprot_id": "PDK2_YEAST", "refseq_ac": "NP_011456", "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": "[Pyruvate dehydrogenase (acetyl-transferring)] kinase 2, mitochondrial", "type": "recommended" }, { "name": "2.7.11.2", "type": "synonym" }, { "name": "PDC kinase 2", "type": "synonym" }, { "name": "PDK 2", "type": "synonym" }, { "name": "Protein kinase of PDH protein 2", "type": "synonym" }, { "name": "Pyruvate dehydrogenase complex kinase 2", "type": "synonym" }, { "name": "Pyruvate dehydrogenase kinase 2", "type": "synonym" }, { "name": "[Pyruvate dehydrogenase [lipoamide]] kinase 2", "type": "synonym" }, { "name": "protein kinase PKP2", "type": "synonym" } ], "gene_names": [ { "name": "PKP2", "type": "recommended" }, { "name": "PKP2", "type": "synonym" } ], "record_id": "P53170-1", "evidence": [ { "id": "0060041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060041" } ] }, { "uniprot_canonical_ac": "P40530-1", "uniprot_ac": "P40530", "uniprot_id": "PDK1_YEAST", "refseq_ac": "NP_012222", "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": "[Pyruvate dehydrogenase (acetyl-transferring)] kinase 1, mitochondrial", "type": "recommended" }, { "name": "2.7.11.2", "type": "synonym" }, { "name": "PDC kinase 1", "type": "synonym" }, { "name": "PDK 1", "type": "synonym" }, { "name": "Protein kinase of PDH protein 1", "type": "synonym" }, { "name": "Pyruvate dehydrogenase complex kinase 1", "type": "synonym" }, { "name": "Pyruvate dehydrogenase kinase 1", "type": "synonym" }, { "name": "[Pyruvate dehydrogenase [lipoamide]] kinase 1", "type": "synonym" }, { "name": "protein kinase PKP1", "type": "synonym" } ], "gene_names": [ { "name": "PKP1", "type": "recommended" }, { "name": "PKP1", "type": "synonym" } ], "record_id": "P40530-1", "evidence": [ { "id": "0060041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060041" } ] }, { "uniprot_canonical_ac": "A0A8I5ZUK4-1", "uniprot_ac": "A0A8I5ZUK4", "uniprot_id": "A0A8I5ZUK4_RAT", 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norvegicus [10116]" } ], "protein_names": [ { "name": "Glutamate decarboxylase 2", "type": "recommended" }, { "name": "4.1.1.15", "type": "synonym" }, { "name": "65 kDa glutamic acid decarboxylase", "type": "synonym" }, { "name": "GAD-65", "type": "synonym" }, { "name": "Glutamate decarboxylase 2 (islet)", "type": "synonym" }, { "name": "Glutamate decarboxylase 65 kDa isoform", "type": "synonym" }, { "name": "glutamate decarboxylase 2", "type": "synonym" }, { "name": "glutamic acid decarboxylase 2", "type": "synonym" }, { "name": "glutamic acid decarboxylase 65", "type": "synonym" } ], "gene_names": [ { "name": "Apbb1ip", "type": "recommended" }, { "name": "Gad2", "type": "recommended" }, { "name": "Gad2", "type": "synonym" }, { "name": "Gad65", "type": "synonym" }, { "name": "gad65", "type": "synonym" } ], "record_id": "Q05683-1", "evidence": [ { "id": "0060041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060041" } ] }, { "uniprot_canonical_ac": "P18088-1", "uniprot_ac": "P18088", "uniprot_id": "DCE1_RAT", "refseq_ac": "NP_058703", "glycoprotein": "no", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "Glutamate decarboxylase 1", "type": "recommended" }, { "name": "4.1.1.15", "type": "synonym" }, { "name": "67 kDa glutamic acid decarboxylase", "type": "synonym" }, { "name": "GAD-67", "type": "synonym" }, { "name": "Glutamate decarboxylase 1 (brain)", "type": "synonym" }, { "name": "Glutamate decarboxylase 67 kDa isoform", "type": "synonym" }, { "name": "glutamate decarboxylase 1 variant GAD67NT", "type": "synonym" }, { "name": "glutamate decarboxylase 1", "type": "synonym" }, { "name": "glutamic acid decarboxylase 1", "type": "synonym" } ], "gene_names": [ { "name": "Gad1", "type": "recommended" }, { "name": "Gad1", "type": "synonym" }, { "name": "Gad67", "type": "synonym" } ], "record_id": "P18088-1", "evidence": [ { "id": "0060041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060041" } ] }, { "uniprot_canonical_ac": "P15337-2", "uniprot_ac": "P15337", "uniprot_id": "CREB1_RAT", "refseq_ac": "NP_112279", "glycoprotein": "yes", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "Cyclic AMP-responsive element-binding protein 1", "type": "recommended" }, { "name": "CREB-1", "type": "synonym" }, { "name": "Y protein", "type": "synonym" }, { "name": "cAMP response element binding protein 1", "type": "synonym" }, { "name": "cAMP-responsive element-binding protein 1", "type": "synonym" }, { "name": "cyclic AMP-responsive element-binding protein 1 isoform B", "type": "synonym" }, { "name": "cyclic AMP-responsive element-binding protein 1", "type": "synonym" } ], "gene_names": [ { "name": "Creb1", "type": "recommended" }, { "name": "Creb-1", "type": "synonym" }, { "name": "Creb1", "type": "synonym" }, { "name": "Creb", "type": "synonym" } ], "record_id": "P15337-2", "evidence": [ { "id": "0060041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060041" } ] }, { "uniprot_canonical_ac": "P49816-1", "uniprot_ac": "P49816", "uniprot_id": "TSC2_RAT", "refseq_ac": "XP_006245971", "glycoprotein": "no", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "Tuberin", "type": "recommended" }, { "name": "Tuberous sclerosis 2 protein homolog", "type": "synonym" }, { "name": "tuberin isoform X1", "type": "synonym" } ], "gene_names": [ { "name": "Tsc2", "type": "recommended" }, { "name": "Rc", "type": "synonym" }, { "name": "Tsc2", "type": "synonym" } ], "record_id": "P49816-1", "evidence": [ { "id": "0060041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060041" } ] }, { "uniprot_canonical_ac": "Q63372-2", "uniprot_ac": "Q63372", "uniprot_id": "NRX1A_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": "Neurexin-1", "type": "recommended" }, { "name": "Neurexin I-alpha", "type": "synonym" }, { "name": "Neurexin-1-alpha", "type": "synonym" } ], "gene_names": [ { "name": "Nrxn1", "type": "recommended" } ], "record_id": "Q63372-2", "evidence": [ { "id": "0060041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060041" } ] }, { "uniprot_canonical_ac": "Q62889-1", "uniprot_ac": "Q62889", "uniprot_id": "NLGN3_RAT", "refseq_ac": "NP_599163", "glycoprotein": "yes", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "Neuroligin-3", "type": "recommended" }, { "name": "Gliotactin homolog", "type": "synonym" }, { "name": "gliotactin homolog", "type": "synonym" }, { "name": "neuroligin-3 isoform 2 precursor", "type": "synonym" } ], "gene_names": [ { "name": "Nlgn3", "type": "recommended" }, { "name": "Nlgn3", "type": "synonym" } ], "record_id": "Q62889-1", "evidence": [ { "id": "0060041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060041" } ] }, { "uniprot_canonical_ac": "Q80WE1-1", "uniprot_ac": "Q80WE1", "uniprot_id": "FMR1_RAT", "refseq_ac": "NP_434691", "glycoprotein": "yes", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "Fragile X messenger ribonucleoprotein 1", "type": "recommended" }, { "name": "FMRP translational regulator 1", "type": "synonym" }, { "name": "FMRP", "type": "synonym" }, { "name": "Fragile X messenger ribonucleoprotein", "type": "synonym" }, { "name": "fragile X messenger ribonucleoprotein 1 isoform 2", "type": "synonym" }, { "name": "protein FMR-1", "type": "synonym" }, { "name": "synaptic functional regulator FMR1", "type": "synonym" } ], "gene_names": [ { "name": "Fmr1", "type": "recommended" }, { "name": "FMRP", "type": "synonym" }, { "name": "Fmr1", "type": "synonym" } ], "record_id": "Q80WE1-1", "evidence": [ { "id": "0060041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060041" } ] }, { "uniprot_canonical_ac": "A0A8I6GH02-1", "uniprot_ac": "A0A8I6GH02", "uniprot_id": "A0A8I6GH02_RAT", "refseq_ac": "NP_001414577", "glycoprotein": "no", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "Contactin associated protein 2", "type": "synonym" }, { "name": "contactin associated protein-like 2", "type": "synonym" }, { "name": "contactin-associated protein-like 2 precursor", "type": "synonym" }, { "name": "contactin-associated protein-like 2", "type": "synonym" }, { "name": "mKIAA0868 protein-like", "type": "synonym" } ], "gene_names": [ { "name": "Cntnap2", "type": "recommended" }, { "name": "Cntnap2", "type": "synonym" } ], "record_id": "A0A8I6GH02-1", "evidence": [ { "id": "0060041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060041" } ] }, { "uniprot_canonical_ac": "Q9QX74-1", "uniprot_ac": "Q9QX74", "uniprot_id": "SHAN2_RAT", "refseq_ac": "NP_001004133", "glycoprotein": "yes", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "SH3 and multiple ankyrin repeat domains protein 2", "type": "recommended" }, { "name": "CortBP1", "type": "synonym" }, { "name": "Cortactin-binding protein 1", "type": 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"name": "Immunoglobulin superfamily member 4D", "type": "synonym" }, { "name": "Nectin-like protein 3", "type": "synonym" }, { "name": "Synaptic cell adhesion molecule 2", "type": "synonym" } ], "gene_names": [ { "name": "Cadm2", "type": "recommended" } ], "record_id": "A0ABK0LBX7-1", "evidence": [ { "id": "0060041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060041" } ] }, { "uniprot_canonical_ac": "Q6DTM3-1", "uniprot_ac": "Q6DTM3", "uniprot_id": "AHI1_RAT", "refseq_ac": "NP_001002277", "glycoprotein": "no", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "Jouberin", "type": "recommended" }, { "name": "AHI-1", "type": "synonym" }, { "name": "Abelson helper integration site 1 protein homolog", "type": "synonym" }, { "name": "abelson helper integration site 1 protein homolog", "type": "synonym" }, { "name": "jouberin-like", "type": "synonym" }, { "name": "jouberin", "type": "synonym" } ], "gene_names": [ { "name": "Ahi1", "type": "recommended" }, { "name": "Ahi-1", "type": "synonym" }, { "name": "Ahi1", "type": "synonym" } ], "record_id": "Q6DTM3-1", "evidence": [ { "id": "0060041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060041" } ] }, { "uniprot_canonical_ac": "P48974-1", "uniprot_ac": "P48974", "uniprot_id": "V1BR_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": "Vasopressin V1b receptor", "type": "recommended" }, { "name": "AVPR V1b", "type": "synonym" }, { "name": "AVPR V3", "type": "synonym" }, { "name": "Antidiuretic hormone receptor 1b", "type": "synonym" }, { "name": "V1bR", "type": "synonym" }, { "name": "Vasopressin V3 receptor", "type": "synonym" } ], "gene_names": [ { "name": "Avpr1b", "type": "recommended" }, { "name": "LOC100909648", "type": "synonym" } ], "record_id": "P48974-1", "evidence": [ { "id": "0060041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060041" } ] }, { "uniprot_canonical_ac": "Q6GMN2-1", "uniprot_ac": "Q6GMN2", "uniprot_id": "BAIP2_RAT", "refseq_ac": "NP_476544", "glycoprotein": "no", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "BAR/IMD domain-containing adapter protein 2", "type": "recommended" }, { "name": "BAI-associated protein 2", "type": "synonym" }, { "name": "BAI1-associated protein 2", "type": "synonym" }, { "name": "BAR/IMD domain-containing adapter protein 2", "type": "synonym" }, { "name": "Brain-specific angiogenesis inhibitor 1-associated protein 2", "type": "synonym" }, { "name": "IRSp53", "type": "synonym" }, { "name": "Insulin receptor substrate p53", "type": "synonym" }, { "name": "Insulin receptor substrate protein of 53 kDa", "type": "synonym" }, { "name": "Insulin receptor tyrosine kinase substrate protein p53", "type": "synonym" }, { "name": "brain-specific angiogenesis inhibitor 1-associated protein 2-like", "type": "synonym" }, { "name": "brain-specific angiogenesis inhibitor 1-associated protein 2", "type": "synonym" }, { "name": "insulin receptor substrate 53", "type": "synonym" }, { "name": "insulin receptor substrate p53", "type": "synonym" }, { "name": "insulin receptor substrate protein of 53 kDa", "type": "synonym" }, { "name": "insulin receptor tyrosine kinase substrate protein p53", "type": "synonym" } ], "gene_names": [ { "name": "Baiap2", "type": "recommended" }, { "name": "Baiap2", "type": "synonym" }, { "name": "Irsp53", "type": "synonym" } ], "record_id": "Q6GMN2-1", "evidence": [ { "id": "0060041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060041" } ] }, { 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"RGD1559697", "type": "synonym" } ], "record_id": "P0CF24-1", "evidence": [ { "id": "0060041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060041" } ] }, { "uniprot_canonical_ac": "A0A1B0GWQ8-1", "uniprot_ac": "A0A1B0GWQ8", "uniprot_id": "A0A1B0GWQ8_RAT", "refseq_ac": "XP_056841390", "glycoprotein": "yes", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "Methyl-CpG-binding domain protein 5", "type": "recommended" }, { "name": "Methyl-CpG-binding protein MBD5", "type": "synonym" }, { "name": "methyl-CpG-binding domain protein 5 isoform X1", "type": "synonym" } ], "gene_names": [ { "name": "Mbd5", "type": "recommended" }, { "name": "Mbd5", "type": "synonym" } ], "record_id": "A0A1B0GWQ8-1", "evidence": [ { "id": "0060041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060041" } ] }, { 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"Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "Methyl-CpG binding domain protein 6", "type": "synonym" } ], "gene_names": [ { "name": "Mbd6", "type": "recommended" } ], "record_id": "D3ZCX1-1", "evidence": [ { "id": "0060041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060041" } ] }, { "uniprot_canonical_ac": "P21396-1", "uniprot_ac": "P21396", "uniprot_id": "AOFA_RAT", "refseq_ac": "", "glycoprotein": "no", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "Amine oxidase [flavin-containing] A", "type": "recommended" }, { "name": "1.4.3.21", "type": "synonym" }, { "name": "1.4.3.4", "type": "synonym" }, { "name": "MAO-A", "type": "synonym" }, { "name": "Monoamine oxidase type A", "type": "synonym" } ], "gene_names": [ { "name": "Maoa", "type": "recommended" } ], "record_id": "P21396-1", "evidence": [ { "id": "0060041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060041" } ] }, { "uniprot_canonical_ac": "Q62765-1", "uniprot_ac": "Q62765", "uniprot_id": "NLGN1_RAT", "refseq_ac": "NP_446320", "glycoprotein": "yes", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "Neuroligin-1", "type": "recommended" }, { "name": "Neuroligin I", "type": "synonym" }, { "name": "neuroligin I", "type": "synonym" }, { "name": "neuroligin-1 precursor", "type": "synonym" } ], "gene_names": [ { "name": "Nlgn1", "type": "recommended" }, { "name": "Nlgn1", "type": "synonym" } ], "record_id": "Q62765-1", "evidence": [ { "id": "0060041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060041" } ] }, { "uniprot_canonical_ac": "Q9ET20-1", "uniprot_ac": "Q9ET20", "uniprot_id": "SCAM4_RAT", "refseq_ac": "NP_113913", "glycoprotein": 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[10116]" } ], "protein_names": [ { "name": "Cullin-3", "type": "recommended" }, { "name": "cullin-3", "type": "synonym" } ], "gene_names": [ { "name": "Cul3", "type": "recommended" }, { "name": "Cul3", "type": "synonym" } ], "record_id": "B5DF89-1", "evidence": [ { "id": "0060041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060041" } ] }, { "uniprot_canonical_ac": "P13053-1", "uniprot_ac": "P13053", "uniprot_id": "VDR_RAT", "refseq_ac": "NP_058754", "glycoprotein": "no", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "Vitamin D3 receptor", "type": "recommended" }, { "name": "1,25-dihydroxyvitamin D3 receptor", "type": "synonym" }, { "name": "Nuclear receptor subfamily 1 group I member 1", "type": "synonym" }, { "name": "VDR", "type": "synonym" }, { "name": "nuclear receptor subfamily 1 group I member 1", "type": "synonym" }, { "name": "vitamin D (1,25- dihydroxyvitamin D3) receptor", "type": "synonym" }, { "name": "vitamin D3 receptor", "type": "synonym" } ], "gene_names": [ { "name": "Vdr", "type": "recommended" }, { "name": "Nr1i1", "type": "synonym" }, { "name": "Vdr", "type": "synonym" } ], "record_id": "P13053-1", "evidence": [ { "id": "0060041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060041" } ] }, { "uniprot_canonical_ac": "M0RC65-1", "uniprot_ac": "M0RC65", "uniprot_id": "M0RC65_RAT", "refseq_ac": "NP_001102452", "glycoprotein": "no", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "Cofilin 2", "type": "synonym" }, { "name": "cofilin 2, muscle", "type": "synonym" }, { "name": "cofilin-2", "type": "synonym" } ], "gene_names": [ { "name": "Cfl2", "type": "recommended" }, { "name": "Cfl2", "type": "synonym" } ], 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"reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "Cofilin-1", "type": "recommended" }, { "name": "Cofilin, non-muscle isoform", "type": "synonym" }, { "name": "cofilin 1, non-muscle", "type": "synonym" }, { "name": "cofilin-1", "type": "synonym" } ], "gene_names": [ { "name": "Cfl1", "type": "recommended" }, { "name": "Cfl1", "type": "synonym" } ], "record_id": "P45592-1", "evidence": [ { "id": "0060041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060041" } ] }, { "uniprot_canonical_ac": "P08909-1", "uniprot_ac": "P08909", "uniprot_id": "5HT2C_RAT", "refseq_ac": "NP_036897", "glycoprotein": "yes", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "5-hydroxytryptamine receptor 2C", "type": "recommended" }, { "name": "5-HT-1C", "type": "synonym" }, { "name": "5-HT-2C", "type": "synonym" }, { "name": "5-HT1C", "type": "synonym" }, { "name": "5-HT2C", "type": "synonym" }, { "name": "5-HTR2C", "type": "synonym" }, { "name": "5-hydroxytryptamine (serotonin) receptor 2C, G protein-coupled", "type": "synonym" }, { "name": "5-hydroxytryptamine receptor 1C", "type": "synonym" }, { "name": "5-hydroxytryptamine receptor 2C precursor", "type": "synonym" }, { "name": "Serotonin receptor 2C", "type": "synonym" }, { "name": "serotonin 1c receptor", "type": "synonym" }, { "name": "serotonin receptor 2C", "type": "synonym" } ], "gene_names": [ { "name": "Htr2c", "type": "recommended" }, { "name": "5-HT2C", "type": "synonym" }, { "name": "5-HTR2C", "type": "synonym" }, { "name": "5HT-1C", "type": "synonym" }, { "name": "5ht1c", "type": "synonym" }, { "name": "Htr1c", "type": "synonym" }, { "name": "Htr2c", "type": "synonym" } ], "record_id": "P08909-1", "evidence": [ { "id": "0060041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060041" } ] }, { 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"ADF", "type": "synonym" }, { "name": "Actin-depolymerizing factor", "type": "synonym" }, { "name": "actin-depolymerizing factor", "type": "synonym" }, { "name": "destrin", "type": "synonym" } ], "gene_names": [ { "name": "Dstn", "type": "recommended" }, { "name": "Dstn", "type": "synonym" } ], "record_id": "Q7M0E3-1", "evidence": [ { "id": "0060041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060041" } ] }, { "uniprot_canonical_ac": "A0A0G2JYR4-1", "uniprot_ac": "A0A0G2JYR4", "uniprot_id": "A0A0G2JYR4_RAT", "refseq_ac": "XP_038958577", "glycoprotein": "no", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "Lipopolysaccharide-responsive and beige-like anchor protein", "type": "recommended" }, { "name": "Beige-like protein", "type": "synonym" }, { "name": "lipopolysaccharide-responsive and beige-like anchor protein isoform 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10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "Contactin-associated protein like 5-1", "type": "recommended" }, { "name": "Cell recognition molecule Caspr5-1", "type": "synonym" }, { "name": "Cell recognition molecule Caspr5a", "type": "synonym" }, { "name": "Contactin-associated protein-like 5a", "type": "synonym" }, { "name": "cell recognition molecule Caspr5-1", "type": "synonym" }, { "name": "cell recognition molecule Caspr5a", "type": "synonym" }, { "name": "contactin-associated protein like 5-1 precursor", "type": "synonym" }, { "name": "contactin-associated protein like 5-1-like", "type": "synonym" }, { "name": "contactin-associated protein like 5-1", "type": "synonym" }, { "name": "contactin-associated protein-like 5a", "type": "synonym" } ], "gene_names": [ { "name": "Cntnap5a", "type": "recommended" }, { "name": "Caspr5-1", "type": "synonym" }, { "name": "Cntnap5a", "type": "synonym" }, { 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"name": "histone-lysine N-methyltransferase KMT5B", "type": "synonym" }, { "name": "histone-lysine N-methyltransferase SUV420H1", "type": "synonym" }, { "name": "lysine (K)-specific methyltransferase 5B", "type": "synonym" }, { "name": "lysine-specific methyltransferase 5B", "type": "synonym" }, { "name": "su(var)4-20 homolog 1", "type": "synonym" }, { "name": "suppressor of variegation 4-20 homolog 1", "type": "synonym" }, { "name": "suv4-20h1", "type": "synonym" } ], "gene_names": [ { "name": "Kmt5b", "type": "recommended" }, { "name": "Kmt5b", "type": "synonym" }, { "name": "Suv420h1", "type": "synonym" } ], "record_id": "P0C2N5-1", "evidence": [ { "id": "0060041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060041" } ] }, { "uniprot_canonical_ac": "Q62888-1", "uniprot_ac": "Q62888", "uniprot_id": "NLGN2_RAT", "refseq_ac": "NP_446444", "glycoprotein": "yes", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "Neuroligin-2", "type": "recommended" }, { "name": "neuroligin-2 precursor", "type": "synonym" } ], "gene_names": [ { "name": "Nlgn2", "type": "recommended" }, { "name": "Nlgn2", "type": "synonym" } ], "record_id": "Q62888-1", "evidence": [ { "id": "0060041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060041" } ] }, { "uniprot_canonical_ac": "D3ZD27-1", "uniprot_ac": "D3ZD27", "uniprot_id": "D3ZD27_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": "[heparan sulfate]-glucosamine N-sulfotransferase", "type": "recommended" }, { "name": "2.8.2.8", "type": "synonym" } ], "gene_names": [ { "name": "Ndst4", "type": "recommended" } ], "record_id": "D3ZD27-1", "evidence": [ { "id": "0060041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060041" } ] }, { "uniprot_canonical_ac": "P0C2N6-1", "uniprot_ac": "P0C2N6", "uniprot_id": "KMT5C_RAT", "refseq_ac": "NP_001100945", "glycoprotein": "yes", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "Histone-lysine N-methyltransferase KMT5C", "type": "recommended" }, { "name": "2.1.1.361", "type": "synonym" }, { "name": "2.1.1.362", "type": "synonym" }, { "name": "Lysine-specific methyltransferase 5C", "type": "synonym" }, { "name": "Su(var)4-20 homolog 2", "type": "synonym" }, { "name": "Suppressor of variegation 4-20 homolog 2", "type": "synonym" }, { "name": "Suv4-20h2", "type": "synonym" }, { "name": "[histone H4]-N-methyl-L-lysine20 N-methyltransferase KMT5B", "type": "synonym" }, { "name": "[histone H4]-lysine20 N-methyltransferase KMT5B", "type": "synonym" }, { 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"Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "Serine/threonine-protein kinase TAO1", "type": "recommended" }, { "name": "2.7.11.1", "type": "synonym" }, { "name": "Thousand and one amino acid protein 1", "type": "synonym" }, { "name": "serine/threonine-protein kinase TAO1", "type": "synonym" }, { "name": "thousand and one amino acid protein 1", "type": "synonym" } ], "gene_names": [ { "name": "Taok1", "type": "recommended" }, { "name": "Tao1", "type": "synonym" }, { "name": "Taok1", "type": "synonym" } ], "record_id": "O88664-1", "evidence": [ { "id": "0060041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060041" } ] }, { "uniprot_canonical_ac": "Q8CGU4-1", "uniprot_ac": "Q8CGU4", "uniprot_id": "AGAP2_RAT", "refseq_ac": "NP_075415", "glycoprotein": "yes", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], 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"Regulating synaptic membrane exocytosis protein 1", "type": "recommended" }, { "name": "RIM 1", "type": "synonym" }, { "name": "Rab-3-interacting molecule 1", "type": "synonym" }, { "name": "Rab3 effector", "type": "synonym" }, { "name": "Rim1b protein", "type": "synonym" }, { "name": "rab-3-interacting molecule 1", "type": "synonym" }, { "name": "rab3-interacting molecule 1", "type": "synonym" }, { "name": "regulating synaptic membrane exocytosis protein 1 isoform 2", "type": "synonym" }, { "name": "regulating synaptic membrane exocytosis protein 1", "type": "synonym" } ], "gene_names": [ { "name": "Rims1", "type": "recommended" }, { "name": "RIM1a", "type": "synonym" }, { "name": "Rim1", "type": "synonym" }, { "name": "Rims1", "type": "synonym" } ], "record_id": "Q9JIR4-1", "evidence": [ { "id": "0060041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060041" } ] }, { "uniprot_canonical_ac": "A0ABK0LVH6-1", "uniprot_ac": "A0ABK0LVH6", "uniprot_id": "A0ABK0LVH6_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 protein 280D", "type": "synonym" } ], "gene_names": [ { "name": "Zfp280d", "type": "recommended" } ], "record_id": "A0ABK0LVH6-1", "evidence": [ { "id": "0060041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060041" } ] }, { "uniprot_canonical_ac": "A0ABK0LXD6-1", "uniprot_ac": "A0ABK0LXD6", "uniprot_id": "A0ABK0LXD6_RAT", "refseq_ac": "", "glycoprotein": "no", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "Sodium/hydrogen exchanger", "type": "recommended" } ], "gene_names": [ { "name": "Slc9a7", "type": "recommended" } ], "record_id": "A0ABK0LXD6-1", "evidence": [ { "id": "0060041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060041" } ] }, { "uniprot_canonical_ac": "Q8CGU9-1", "uniprot_ac": "Q8CGU9", "uniprot_id": "TPH2_RAT", "refseq_ac": "NP_776211", "glycoprotein": "no", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "Tryptophan 5-hydroxylase 2", "type": "recommended" }, { "name": "1.14.16.4", "type": "synonym" }, { "name": "Neuronal tryptophan hydroxylase", "type": "synonym" }, { "name": "Tryptophan 5-monooxygenase 2", "type": "synonym" }, { "name": "neuronal tryptophan hydroxylase", "type": "synonym" }, { "name": "tryptophan 5-hydroxylase 2", "type": "synonym" }, { "name": "tryptophan 5-monooxygenase 2", "type": "synonym" } ], "gene_names": [ { "name": "Tph2", "type": "recommended" }, { "name": "Ntph", "type": "synonym" }, { "name": "Tph2", "type": "synonym" } ], "record_id": "Q8CGU9-1", "evidence": [ { "id": "0060041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060041" } ] }, { "uniprot_canonical_ac": "Q8VHZ8-1", "uniprot_ac": "Q8VHZ8", "uniprot_id": "DSCAM_RAT", "refseq_ac": "NP_598271", "glycoprotein": "yes", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "Cell adhesion molecule DSCAM", "type": "recommended" }, { "name": "Down syndrome cell adhesion molecule homolog", "type": "synonym" }, { "name": "cell adhesion molecule DSCAM precursor", "type": "synonym" }, { "name": "cell adhesion molecule DSCAM", "type": "synonym" } ], "gene_names": [ { "name": "Dscam", "type": "recommended" }, { "name": "Dscam", "type": "synonym" } ], "record_id": "Q8VHZ8-1", "evidence": [ { "id": "0060041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060041" } ] }, { 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synaptic membrane exocytosis protein 2-like", "type": "synonym" }, { "name": "regulating synaptic membrane exocytosis protein 2", "type": "synonym" } ], "gene_names": [ { "name": "Rims2", "type": "recommended" }, { "name": "Nim2", "type": "synonym" }, { "name": "Rim2", "type": "synonym" }, { "name": "Rims2", "type": "synonym" } ], "record_id": "Q9JIS1-1", "evidence": [ { "id": "0060041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060041" } ] }, { "uniprot_canonical_ac": "F1LQW0-1", "uniprot_ac": "F1LQW0", "uniprot_id": "F1LQW0_RAT", "refseq_ac": "NP_112633", "glycoprotein": "no", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "Transporter", "type": "recommended" }, { "name": "NaCl-dependent norepinephrine transporter", "type": "synonym" }, { "name": "neurotransmitter transporter, noradrenal", "type": "synonym" }, { "name": "sodium-dependent noradrenaline transporter", "type": "synonym" }, { "name": "solute carrier family 6 (neurotransmitter transporter), member 2", "type": "synonym" }, { "name": "solute carrier family 6 (neurotransmitter transporter, noradrenalin), member 2", "type": "synonym" }, { "name": "transmembrane region 4..26 transmembrane region 55..77 transmembrane region 105..123 transmembrane region 136..157", "type": "synonym" } ], "gene_names": [ { "name": "Slc6a2", "type": "recommended" }, { "name": "Net", "type": "synonym" }, { "name": "Slc6a2", "type": "synonym" } ], "record_id": "F1LQW0-1", "evidence": [ { "id": "0060041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060041" } ] }, { "uniprot_canonical_ac": "O35119-1", "uniprot_ac": "O35119", "uniprot_id": "TRPC4_RAT", "refseq_ac": "", "glycoprotein": "no", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "Short transient receptor potential channel 4", "type": "recommended" }, { "name": "CCE1", "type": "synonym" }, { "name": "Capacitative calcium entry channel 1", "type": "synonym" }, { "name": "Trp4", "type": "synonym" }, { "name": "TrpC4", "type": "synonym" } ], "gene_names": [ { "name": "Trpc4", "type": "recommended" } ], "record_id": "O35119-1", "evidence": [ { "id": "0060041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060041" } ] }, { "uniprot_canonical_ac": "A0A0G2K1Q8-1", "uniprot_ac": "A0A0G2K1Q8", "uniprot_id": "ABCA3_RAT", "refseq_ac": "NP_001382963", "glycoprotein": "yes", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "Phospholipid-transporting ATPase ABCA3", "type": "recommended" }, { "name": "7.6.2.1", "type": "synonym" }, { "name": "7.6.2.2", "type": "synonym" }, { "name": "ATP-binding cassette sub-family A member 3", "type": "synonym" }, { "name": "ATP-binding cassette, sub-family A (ABC1), member 3", "type": "synonym" }, { "name": "ATP-binding cassette, subfamily A (ABC1), member 3", "type": "synonym" }, { "name": "Xenobiotic-transporting ATPase ABCA3", "type": "synonym" }, { "name": "phospholipid-transporting ATPase ABCA3", "type": "synonym" }, { "name": "xenobiotic-transporting ATPase ABCA3", "type": "synonym" } ], "gene_names": [ { "name": "Abca3", "type": "recommended" }, { "name": "Abca3", "type": "synonym" } ], "record_id": "A0A0G2K1Q8-1", "evidence": [ { "id": "0060041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060041" } ] }, { "uniprot_canonical_ac": "E9PU17-1", "uniprot_ac": "E9PU17", "uniprot_id": "ABCAH_RAT", "refseq_ac": "NP_001026807", "glycoprotein": "yes", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus 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"Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "Contactin associated protein family member 3", "type": "synonym" } ], "gene_names": [ { "name": "Cntnap3", "type": "recommended" } ], "record_id": "D4AA49-1", "evidence": [ { "id": "0060041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060041" } ] }, { "uniprot_canonical_ac": "Q0V8T5-1", "uniprot_ac": "Q0V8T5", "uniprot_id": "CTP5B_RAT", "refseq_ac": "NP_001316828", "glycoprotein": "yes", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "Contactin-associated protein like 5-2", "type": "recommended" }, { "name": "Cell recognition molecule Caspr5-2", "type": "synonym" }, { "name": "Cell recognition molecule Caspr5b", "type": "synonym" }, { "name": "Contactin-associated protein-like 5b", "type": "synonym" }, { "name": "contactin associated protein-like 5-2", "type": "synonym" }, { "name": "similar to contactin associated protein-like 5 isoform 1 precursor", "type": "synonym" } ], "gene_names": [ { "name": "Cntnap5a", "type": "recommended" }, { "name": "Cntnap5bl1", "type": "recommended" }, { "name": "Cntnap5b", "type": "recommended" }, { "name": "Cntnap5c", "type": "recommended" }, { "name": "Caspr5-2", "type": "synonym" }, { "name": "Cntnap5a", "type": "synonym" }, { "name": "Cntnap5bl1", "type": "synonym" }, { "name": "Cntnap5c", "type": "synonym" }, { "name": "LOC304725", "type": "synonym" } ], "record_id": "Q0V8T5-1", "evidence": [ { "id": "0060041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060041" } ] }, { "uniprot_canonical_ac": "P18395-1", "uniprot_ac": "P18395", "uniprot_id": "CSDE1_RAT", "refseq_ac": "NP_446458", "glycoprotein": "no", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", 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with ZNF domain", "type": "recommended" } ], "gene_names": [ { "name": "Pogz", "type": "recommended" } ], "record_id": "A0ABK0LDR4-1", "evidence": [ { "id": "0060041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060041" } ] }, { "uniprot_canonical_ac": "D3ZKH4-1", "uniprot_ac": "D3ZKH4", "uniprot_id": "D3ZKH4_RAT", "refseq_ac": "XP_008759376", "glycoprotein": "no", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "Histone-lysine N-methyltransferase ASH1L", "type": "recommended" }, { "name": "2.1.1.359", "type": "synonym" }, { "name": "2.1.1.367", "type": "synonym" }, { "name": "ASH1-like protein", "type": "synonym" }, { "name": "Absent small and homeotic disks protein 1 homolog", "type": "synonym" }, { "name": "histone-lysine N-methyltransferase ASH1L isoform X2", "type": "synonym" } ], "gene_names": [ { "name": "Ash1l", "type": "recommended" }, { "name": "Ash1l", "type": "synonym" } ], "record_id": "D3ZKH4-1", "evidence": [ { "id": "0060041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060041" } ] }, { "uniprot_canonical_ac": "F1MAA7-1", "uniprot_ac": "F1MAA7", "uniprot_id": "F1MAA7_RAT", "refseq_ac": "NP_446418", "glycoprotein": "yes", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "Laminin subunit gamma-1", "type": "recommended" }, { "name": "Laminin B2 chain", "type": "synonym" }, { "name": "Laminin-1 subunit gamma", "type": "synonym" }, { "name": "Laminin-10 subunit gamma", "type": "synonym" }, { "name": "Laminin-11 subunit gamma", "type": "synonym" }, { "name": "Laminin-2 subunit gamma", "type": "synonym" }, { "name": "Laminin-3 subunit gamma", "type": "synonym" }, { "name": "Laminin-4 subunit gamma", "type": "synonym" }, { "name": 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[ { "name": "RNA-binding protein FXR1", "type": "recommended" }, { "name": "FMR1 autosomal homolog 1", "type": "synonym" }, { "name": "RNA-binding protein FXR1 isoform 4", "type": "synonym" }, { "name": "RNA-binding protein FXR1", "type": "synonym" }, { "name": "rCG41429-like", "type": "synonym" } ], "gene_names": [ { "name": "Fxr1", "type": "recommended" }, { "name": "Fxr1h", "type": "synonym" }, { "name": "Fxr1", "type": "synonym" } ], "record_id": "Q5XI81-1", "evidence": [ { "id": "0060041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060041" } ] }, { "uniprot_canonical_ac": "Q9QX01-1", "uniprot_ac": "Q9QX01", "uniprot_id": "TRPC1_RAT", "refseq_ac": "", "glycoprotein": "no", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "Short transient receptor potential channel 1", "type": "recommended" }, { "name": "TRP-1", 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sulfate N-deacetylase/N-sulfotransferase", "type": "synonym" }, { "name": "HSNST 1", "type": "synonym" }, { "name": "N-HSST 1", "type": "synonym" }, { "name": "N-HSST", "type": "synonym" }, { "name": "N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1", "type": "synonym" }, { "name": "N-heparan sulfate sulfotransferase 1", "type": "synonym" }, { "name": "NDST-1", "type": "synonym" }, { "name": "[Heparan sulfate]-glucosamine N-sulfotransferase 1", "type": "synonym" }, { "name": "bifunctional heparan sulfate N-deacetylase/N-sulfotransferase 1", "type": "synonym" }, { "name": "glucosaminyl N-deacetylase/N-sulfotransferase 1", "type": "synonym" }, { "name": "heparan sulfate-N-deacetylase/N-sulfotransferase", "type": "synonym" } ], "gene_names": [ { "name": "Ndst1", "type": "recommended" }, { "name": "Hsst1", "type": "synonym" }, { "name": "Hsst", "type": "synonym" }, { "name": "N-HSST", "type": "synonym" }, { "name": "Ndst1", "type": "synonym" } ], "record_id": "Q02353-1", "evidence": [ { "id": "0060041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060041" } ] }, { "uniprot_canonical_ac": "D3ZD62-1", "uniprot_ac": "D3ZD62", "uniprot_id": "D3ZD62_RAT", "refseq_ac": "NP_001099210", "glycoprotein": "no", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "[heparan sulfate]-glucosamine N-sulfotransferase", "type": "recommended" }, { "name": "2.8.2.8", "type": "synonym" }, { "name": "N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 2", "type": "synonym" }, { "name": "N-deacetylase/N-sulfotransferase 2", "type": "synonym" }, { "name": "bifunctional heparan sulfate N-deacetylase/N-sulfotransferase 2", "type": "synonym" } ], "gene_names": [ { "name": "Ndst2", "type": "recommended" }, { "name": "Ndst2", "type": "synonym" } ], "record_id": "D3ZD62-1", "evidence": [ { "id": "0060041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060041" } ] }, { "uniprot_canonical_ac": "A0ABK0M8F8-1", "uniprot_ac": "A0ABK0M8F8", "uniprot_id": "A0ABK0M8F8_RAT", "refseq_ac": "", "glycoprotein": "no", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "Single-stranded DNA binding protein 2", "type": "synonym" } ], "gene_names": [ { "name": "Ssbp2", "type": "recommended" } ], "record_id": "A0ABK0M8F8-1", "evidence": [ { "id": "0060041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060041" } ] }, { "uniprot_canonical_ac": "A0A8J8YNR6-1", "uniprot_ac": "A0A8J8YNR6", "uniprot_id": "A0A8J8YNR6_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": "FMR1 autosomal homolog 2", "type": "synonym" } ], "gene_names": [ { "name": "Fxr2", "type": "recommended" } ], "record_id": "A0A8J8YNR6-1", "evidence": [ { "id": "0060041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060041" } ] }, { "uniprot_canonical_ac": "Q63374-1", "uniprot_ac": "Q63374", "uniprot_id": "NRX2A_RAT", "refseq_ac": "NP_446298", "glycoprotein": "yes", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "Neurexin-2", "type": "recommended" }, { "name": "Neurexin II-alpha", "type": "synonym" }, { "name": "Neurexin-2-alpha", "type": "synonym" }, { "name": "neurexin II-alpha", "type": "synonym" }, { "name": "neurexin II-beta", "type": "synonym" }, { "name": "neurexin-2-alpha", "type": "synonym" }, { "name": "neurexin-2-beta precursor", "type": "synonym" }, { "name": "neurexin-2-beta", "type": "synonym" } ], "gene_names": [ { "name": "Nrxn2", "type": "recommended" }, { "name": "Nrxn2", "type": "synonym" } ], "record_id": "Q63374-1", "evidence": [ { "id": "0060041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060041" } ] }, { "uniprot_canonical_ac": "F1M2Q5-1", "uniprot_ac": "F1M2Q5", "uniprot_id": "F1M2Q5_RAT", "refseq_ac": "", "glycoprotein": "no", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "ATP-binding cassette, subfamily A (ABC1), member 14", "type": "synonym" } ], "gene_names": [ { "name": "Abca14", "type": "recommended" } ], "record_id": "F1M2Q5-1", "evidence": [ { "id": "0060041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060041" } ] }, { "uniprot_canonical_ac": "Q9JLS3-1", "uniprot_ac": "Q9JLS3", "uniprot_id": "TAOK2_RAT", "refseq_ac": "NP_073193", "glycoprotein": "yes", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "Serine/threonine-protein kinase TAO2", "type": "recommended" }, { "name": "2.7.11.1", "type": "synonym" }, { "name": "Thousand and one amino acid protein 2", "type": "synonym" }, { "name": "serine-threonine kinase", "type": "synonym" }, { "name": "serine/threonine-protein kinase TAO2", "type": "synonym" }, { "name": "thousand and one amino acid protein 2", "type": "synonym" } ], "gene_names": [ { "name": "Taok2", "type": "recommended" }, { "name": "Tao2", "type": "synonym" }, { "name": "Taok2", "type": "synonym" } ], "record_id": "Q9JLS3-1", "evidence": [ { "id": "0060041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060041" } ] }, { "uniprot_canonical_ac": "A0A096MJY0-1", "uniprot_ac": "A0A096MJY0", "uniprot_id": "A0A096MJY0_RAT", "refseq_ac": "NP_001100993", "glycoprotein": "no", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "Chromodomain helicase DNA binding protein 2", "type": "synonym" }, { "name": "chromodomain-helicase-DNA-binding protein 2", "type": "synonym" } ], "gene_names": [ { "name": "Chd2", "type": "recommended" }, { "name": "Chd2", "type": "synonym" } ], "record_id": "A0A096MJY0-1", "evidence": [ { "id": "0060041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060041" } ] }, { "uniprot_canonical_ac": "Q07310-1", "uniprot_ac": "Q07310", "uniprot_id": "NRX3A_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": "Neurexin-3", "type": "recommended" }, { "name": "Neurexin III-alpha", "type": "synonym" }, { "name": "Neurexin-3-alpha", "type": "synonym" } ], "gene_names": [ { "name": "Nrxn3", "type": "recommended" } ], "record_id": "Q07310-1", "evidence": [ { "id": "0060041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060041" } ] }, { "uniprot_canonical_ac": "A0ABK0LIN4-1", "uniprot_ac": "A0ABK0LIN4", "uniprot_id": "A0ABK0LIN4_RAT", "refseq_ac": "", "glycoprotein": "no", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "Laminin subunit gamma-3", "type": "recommended" }, { "name": "Laminin-12 subunit gamma", "type": "synonym" }, { "name": "Laminin-14 subunit gamma", "type": "synonym" }, { "name": "Laminin-15 subunit gamma", "type": "synonym" } ], "gene_names": [ { "name": "Lamc3", "type": "recommended" } ], "record_id": "A0ABK0LIN4-1", "evidence": [ { "id": "0060041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060041" } ] }, { "uniprot_canonical_ac": "P23977-1", "uniprot_ac": "P23977", "uniprot_id": "SC6A3_RAT", "refseq_ac": "NP_036826", "glycoprotein": "yes", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "Sodium-dependent dopamine transporter", "type": "recommended" }, { "name": "DA transporter", "type": "synonym" }, { "name": "DAT", "type": "synonym" }, { "name": "Solute carrier family 6 member 3", "type": "synonym" }, { "name": "sodium-dependent dopamine transporter", "type": "synonym" }, { "name": "solute carrier family 6 (neurotransmitter transporter), member 3", "type": "synonym" }, { "name": "solute carrier family 6 (neurotransmitter transporter, dopamine), member 3", "type": "synonym" } ], "gene_names": [ { "name": "Slc6a3", "type": "recommended" }, { "name": "Dat1", "type": "synonym" }, { "name": "Slc6a3", "type": "synonym" } ], "record_id": "P23977-1", "evidence": [ { "id": "0060041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060041" } ] }, { "uniprot_canonical_ac": "F1M3J7-1", "uniprot_ac": "F1M3J7", "uniprot_id": "F1M3J7_RAT", "refseq_ac": "NP_001100902", "glycoprotein": "yes", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "Contactin associated protein family member 4", "type": "synonym" }, { "name": "contactin associated protein 4", "type": "synonym" }, { "name": "contactin associated protein-like 4", "type": "synonym" }, { "name": "contactin-associated protein-like 4 precursor", "type": "synonym" } ], "gene_names": [ { "name": "Cntnap4", "type": "recommended" }, { "name": "Cntnap4", "type": "synonym" } ], "record_id": "F1M3J7-1", "evidence": [ { "id": "0060041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060041" } ] }, { "uniprot_canonical_ac": "D3ZPL7-1", "uniprot_ac": "D3ZPL7", "uniprot_id": "D3ZPL7_RAT", "refseq_ac": "NP_001101611", "glycoprotein": "yes", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "Cell adhesion molecule DSCAML1", "type": "recommended" }, { "name": "Down syndrome cell adhesion molecule-like 1", "type": "synonym" }, { "name": "Down syndrome cell adhesion molecule-like protein 1", "type": "synonym" }, { "name": "cell adhesion molecule DSCAML1", "type": "synonym" } ], "gene_names": [ { "name": "Dscaml1", "type": "recommended" }, { "name": "Dscaml1", "type": "synonym" } ], "record_id": "D3ZPL7-1", "evidence": [ { "id": "0060041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060041" } ] }, { "uniprot_canonical_ac": "A0ABK0LYB6-1", "uniprot_ac": "A0ABK0LYB6", 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"database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060041" } ] }, { "uniprot_canonical_ac": "A0A0G2JXQ2-1", "uniprot_ac": "A0A0G2JXQ2", "uniprot_id": "A0A0G2JXQ2_RAT", "refseq_ac": "XP_038953982", "glycoprotein": "no", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "Chromodomain helicase DNA binding protein 9", "type": "synonym" }, { "name": "chromodomain-helicase-DNA-binding protein 9 isoform X1", "type": "synonym" } ], "gene_names": [ { "name": "Chd9", "type": "recommended" }, { "name": "Chd9", "type": "synonym" } ], "record_id": "A0A0G2JXQ2-1", "evidence": [ { "id": "0060041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060041" } ] }, { "uniprot_canonical_ac": "A0ABK0L8U6-1", "uniprot_ac": "A0ABK0L8U6", "uniprot_id": "A0ABK0L8U6_RAT", "refseq_ac": "", "glycoprotein": "no", "species": [ { "name": 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norvegicus [10116]" } ], "protein_names": [ { "name": "Ubiquitin-protein ligase E3A", "type": "recommended" }, { "name": "2.3.2.26", "type": "synonym" }, { "name": "ubiquitin-protein ligase E3A", "type": "synonym" } ], "gene_names": [ { "name": "Ube3a", "type": "recommended" }, { "name": "Ube3a", "type": "synonym" } ], "record_id": "A0ABK0L068-1", "evidence": [ { "id": "0060041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060041" } ] }, { "uniprot_canonical_ac": "Q9JIX5-1", "uniprot_ac": "Q9JIX5", "uniprot_id": "CHD8_RAT", "refseq_ac": "NP_001334590", "glycoprotein": "yes", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "ATP-dependent chromatin remodeler CHD8", "type": "recommended" }, { "name": "3.6.4.-", "type": "synonym" }, { "name": "ATP-dependent chromatin remodeler CHD8", "type": "synonym" }, { "name": 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"D3ZU54-1", "evidence": [ { "id": "0060041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060041" } ] }, { "uniprot_canonical_ac": "A0A8I6A3E5-1", "uniprot_ac": "A0A8I6A3E5", "uniprot_id": "A0A8I6A3E5_RAT", "refseq_ac": "", "glycoprotein": "no", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "Eukaryotic translation initiation factor 4E", "type": "recommended" }, { "name": "eIF-4F 25 kDa subunit", "type": "synonym" } ], "gene_names": [ { "name": "AC135142.1", "type": "recommended" }, { "name": "Eif4e1b", "type": "recommended" }, { "name": "AC135142.1", "type": "synonym" }, { "name": "Eif4e1b", "type": "synonym" } ], "record_id": "A0A8I6A3E5-1", "evidence": [ { "id": "0060041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060041" } ] }, { "uniprot_canonical_ac": "M0RC73-1", "uniprot_ac": "M0RC73", 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norvegicus [10116]" } ], "protein_names": [ { "name": "N(alpha)-acetyltransferase 15, NatA auxiliary subunit", "type": "synonym" }, { "name": "N-alpha-acetyltransferase 15, NatA auxiliary subunit", "type": "synonym" }, { "name": "NMDA receptor regulated 1", "type": "synonym" }, { "name": "NMDA receptor-regulated gene 1", "type": "synonym" } ], "gene_names": [ { "name": "Naa15", "type": "recommended" }, { "name": "Naa15", "type": "synonym" }, { "name": "Narg1", "type": "synonym" } ], "record_id": "D3ZD89-1", "evidence": [ { "id": "0060041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060041" } ] }, { "uniprot_canonical_ac": "P50282-1", "uniprot_ac": "P50282", "uniprot_id": "MMP9_RAT", "refseq_ac": "NP_112317", "glycoprotein": "yes", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "Matrix metalloproteinase-9", "type": 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"name": "gamma-aminobutyric acid (GABA) A receptor, beta 3", "type": "synonym" }, { "name": "gamma-aminobutyric acid (GABA-A) receptor, subunit beta 3", "type": "synonym" }, { "name": "gamma-aminobutyric acid receptor subunit beta-3 precursor", "type": "synonym" }, { "name": "gamma-aminobutyric acid receptor subunit beta-3", "type": "synonym" }, { "name": "gamma-aminobutyric acid type A receptor beta 3 subunit", "type": "synonym" }, { "name": "testis gamma-aminobutyric acid receptor subunit beta 3", "type": "synonym" } ], "gene_names": [ { "name": "Gabrb3", "type": "recommended" }, { "name": "Gabrb-3", "type": "synonym" }, { "name": "Gabrb3", "type": "synonym" } ], "record_id": "P63079-1", "evidence": [ { "id": "0060041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060041" } ] }, { "uniprot_canonical_ac": "F7F2H0-1", "uniprot_ac": "F7F2H0", "uniprot_id": "F7F2H0_RAT", "refseq_ac": "", "glycoprotein": "no", "species": [ { "name": "Rattus norvegicus", "taxid": 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"AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060041" } ] }, { "uniprot_canonical_ac": "Q9WU82-1", "uniprot_ac": "Q9WU82", "uniprot_id": "CTNB1_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": "Catenin beta-1", "type": "recommended" }, { "name": "Beta-catenin", "type": "synonym" } ], "gene_names": [ { "name": "Ctnnb1", "type": "recommended" }, { "name": "Catnb", "type": "synonym" } ], "record_id": "Q9WU82-1", "evidence": [ { "id": "0060041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060041" } ] }, { "uniprot_canonical_ac": "P97523-1", "uniprot_ac": "P97523", "uniprot_id": "MET_RAT", "refseq_ac": "NP_113705", "glycoprotein": "yes", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "Hepatocyte growth factor receptor", "type": "recommended" }, { "name": "2.7.10.1", "type": "synonym" }, { "name": "HGF receptor", "type": "synonym" }, { "name": "HGF/SF receptor", "type": "synonym" }, { "name": "Proto-oncogene c-Met", "type": "synonym" }, { "name": "SF receptor", "type": "synonym" }, { "name": "Scatter factor receptor", "type": "synonym" }, { "name": "Tyrosine-protein kinase Met", "type": "synonym" }, { "name": "c-Met", "type": "synonym" }, { "name": "hepatocyte growth factor receptor isoform 1 precursor", "type": "synonym" }, { "name": "hepatocyte growth factor receptor", "type": "synonym" }, { "name": "met proto-oncogene tyrosine kinase", "type": "synonym" }, { "name": "proto-oncogene c-Met", "type": "synonym" }, { "name": "scatter factor receptor", "type": "synonym" }, { "name": "tyrosine-protein kinase Met", "type": "synonym" } ], "gene_names": [ { "name": "Met", "type": "recommended" }, { "name": "Hgfr", 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norvegicus [10116]" } ], "protein_names": [ { "name": "TAFA chemokine like family member 3", "type": "synonym" }, { "name": "chemokine-like protein TAFA-3 isoform X2", "type": "synonym" } ], "gene_names": [ { "name": "Tafa3", "type": "recommended" }, { "name": "Fam19a3", "type": "synonym" }, { "name": "Tafa3", "type": "synonym" } ], "record_id": "F1LXB8-1", "evidence": [ { "id": "0060041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060041" } ] }, { "uniprot_canonical_ac": "A0A8I6GLR6-1", "uniprot_ac": "A0A8I6GLR6", "uniprot_id": "A0A8I6GLR6_RAT", "refseq_ac": "NP_001129190", "glycoprotein": "no", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "Phosphatidylinositol 3,4,5-trisphosphate-dependent Rac exchanger 1 protein", "type": "recommended" }, { "name": "phosphatidylinositol 3,4,5-trisphosphate-dependent Rac exchanger 1 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"synonym" }, { "name": "Rho/Cdc42/Rac GTPase-activating protein RICS", "type": "synonym" }, { "name": "RhoGAP involved in the beta-catenin-N-cadherin and NMDA receptor signaling", "type": "synonym" }, { "name": "p200RhoGAP", "type": "synonym" }, { "name": "p250GAP", "type": "synonym" }, { "name": "rho GTPase-activating protein 32 isoform X1", "type": "synonym" } ], "gene_names": [ { "name": "Arhgap32", "type": "recommended" }, { "name": "Arhgap32", "type": "synonym" }, { "name": "Grit", "type": "synonym" }, { "name": "Rics", "type": "synonym" }, { "name": "p250GAP", "type": "synonym" } ], "record_id": "A0ABK0LN08-1", "evidence": [ { "id": "0060041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060041" } ] }, { "uniprot_canonical_ac": "Q63537-1", "uniprot_ac": "Q63537", "uniprot_id": "SYN2_RAT", "refseq_ac": "NP_001029192", "glycoprotein": "yes", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "Synapsin-2", "type": "recommended" }, { "name": "Synapsin II", "type": "synonym" }, { "name": "synapsin-2 isoform 1", "type": "synonym" }, { "name": "synapsin-2", "type": "synonym" } ], "gene_names": [ { "name": "Syn2", "type": "recommended" }, { "name": "Syn2", "type": "synonym" } ], "record_id": "Q63537-1", "evidence": [ { "id": "0060041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060041" } ] }, { "uniprot_canonical_ac": "A0A8I5Y244-1", "uniprot_ac": "A0A8I5Y244", "uniprot_id": "A0A8I5Y244_RAT", "refseq_ac": "XP_063142045", "glycoprotein": "no", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "Calcium dependent secretion activator 2", "type": "synonym" }, { "name": "calcium-dependent secretion activator 2 isoform X3", "type": "synonym" 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"https://www.alliancegenome.org/disease/DOID:0060041" } ] }, { "uniprot_canonical_ac": "P35439-1", "uniprot_ac": "P35439", "uniprot_id": "NMDZ1_RAT", "refseq_ac": "NP_001257531", "glycoprotein": "yes", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "Glutamate receptor ionotropic, NMDA 1", "type": "recommended" }, { "name": "GluN1", "type": "synonym" }, { "name": "Glutamate [NMDA] receptor subunit zeta-1", "type": "synonym" }, { "name": "N-methyl-D-aspartate glutamate receptor", "type": "synonym" }, { "name": "N-methyl-D-aspartate receptor subunit NR1", "type": "synonym" }, { "name": "NMD-R1", "type": "synonym" }, { "name": "NMDA R1 receptor C1 cassette", "type": "synonym" }, { "name": "glutamate [NMDA] receptor subunit zeta-1", "type": "synonym" }, { "name": "glutamate receptor ionotropic, NMDA 1 isoform 1b precursor", "type": "synonym" }, { 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type II subunit alpha", "type": "recommended" }, { "name": "2.7.11.17", "type": "synonym" }, { "name": "Ca2+/calmodulin-dependent protein kinase II alpha", "type": "synonym" }, { "name": "CaM kinase II subunit alpha", "type": "synonym" }, { "name": "CaMK-II subunit alpha", "type": "synonym" }, { "name": "alpha CaM kinase II", "type": "synonym" }, { "name": "caM kinase II subunit alpha", "type": "synonym" }, { "name": "caM-kinase II alpha chain", "type": "synonym" }, { "name": "caMK-II subunit alpha", "type": "synonym" }, { "name": "calcium/calmodulin-dependent protein kinase (CaM kinase) II alpha", "type": "synonym" }, { "name": "calcium/calmodulin-dependent protein kinase II alpha subunit", "type": "synonym" }, { "name": "calcium/calmodulin-dependent protein kinase type II alpha chain", "type": "synonym" }, { "name": "calcium/calmodulin-dependent protein kinase type II subunit alpha", "type": "synonym" } ], "gene_names": [ { "name": "Camk2a", "type": "recommended" }, { "name": "Camk2a", "type": "synonym" }, { "name": "PK2CDD", "type": "synonym" }, { "name": "PKCCD", "type": "synonym" } ], "record_id": "P11275-1", "evidence": [ { "id": "0060041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060041" } ] }, { "uniprot_canonical_ac": "P03926-1", "uniprot_ac": "P03926", "uniprot_id": "NU6M_RAT", "refseq_ac": "YP_665640", "glycoprotein": "no", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "NADH-ubiquinone oxidoreductase chain 6", "type": "recommended" }, { "name": "7.1.1.2", "type": "synonym" }, { "name": "NADH dehydrogenase subunit 6", "type": "synonym" } ], "gene_names": [ { "name": "Mt-nd6", "type": "recommended" }, { "name": "Mtnd6", "type": "synonym" }, { "name": "ND6", "type": "synonym" }, { "name": "Nd6", "type": "synonym" } ], "record_id": "P03926-1", "evidence": [ { "id": "0060041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060041" } ] }, { "uniprot_canonical_ac": "A0A8I5YBI4-1", "uniprot_ac": "A0A8I5YBI4", "uniprot_id": "A0A8I5YBI4_RAT", "refseq_ac": "NP_001426756", "glycoprotein": "yes", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "Transcription factor 20", "type": "synonym" }, { "name": "stromelysin-1 platelet-derived growth factor-responsive element binding protein", "type": "synonym" }, { "name": "transcription factor 20 isoform 2", "type": "synonym" } ], "gene_names": [ { "name": "Tcf20", "type": "recommended" }, { "name": "AR1", "type": "synonym" }, { "name": "SPBP", "type": "synonym" }, { "name": "Tcf20", "type": "synonym" } ], "record_id": "A0A8I5YBI4-1", "evidence": [ { "id": "0060041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060041" } ] }, { "uniprot_canonical_ac": "O70441-1", "uniprot_ac": "O70441", "uniprot_id": "SYN3_RAT", "refseq_ac": "NP_058805", "glycoprotein": "yes", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "Synapsin-3", "type": "recommended" }, { "name": "Synapsin III", "type": "synonym" }, { "name": "regulated by Ca+2", "type": "synonym" }, { "name": "synapsin-3-like", "type": "synonym" }, { "name": "synapsin-3", "type": "synonym" } ], "gene_names": [ { "name": "Syn3", "type": "recommended" }, { "name": "Syn3", "type": "synonym" } ], "record_id": "O70441-1", "evidence": [ { "id": "0060041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060041" } ] }, { "uniprot_canonical_ac": "A0ABK0M6J6-1", "uniprot_ac": "A0ABK0M6J6", "uniprot_id": "A0ABK0M6J6_RAT", "refseq_ac": "NP_001406731", "glycoprotein": "no", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "AT rich interactive domain 1B (Swi1 like)", "type": "synonym" }, { "name": "AT-rich interaction domain 1B", "type": "synonym" }, { "name": "AT-rich interactive domain-containing protein 1B", "type": "synonym" }, { "name": "transcription factor 1", "type": "synonym" } ], "gene_names": [ { "name": "Arid1b", "type": "recommended" }, { "name": "6A3-5", "type": "synonym" }, { "name": "Arid1b", "type": "synonym" }, { "name": "Smcf1", "type": "synonym" }, { "name": "smcf-1", "type": "synonym" } ], "record_id": "A0ABK0M6J6-1", "evidence": [ { "id": "0060041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060041" } ] }, { "uniprot_canonical_ac": "P04774-1", "uniprot_ac": "P04774", "uniprot_id": "SCN1A_RAT", "refseq_ac": "NP_110502", "glycoprotein": "yes", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "Sodium channel protein type 1 subunit alpha", "type": "recommended" }, { "name": "Sodium channel protein brain I subunit alpha", "type": "synonym" }, { "name": "Sodium channel protein type I subunit alpha", "type": "synonym" }, { "name": "Voltage-gated sodium channel subunit alpha Nav1.1", "type": "synonym" }, { "name": "sodium channel protein type 1 subunit alpha-like", "type": "synonym" }, { "name": "sodium channel protein type 1 subunit alpha", "type": "synonym" }, { "name": "sodium channel protein type I subunit alpha", "type": "synonym" }, { "name": "sodium channel protein, brain I subunit alpha", "type": "synonym" }, { "name": "sodium channel, voltage-gated, type 1, alpha polypeptide", "type": "synonym" }, { "name": "sodium channel, voltage-gated, type I, alpha polypeptide", "type": "synonym" }, { "name": "sodium channel, voltage-gated, type I, alpha subunit", "type": "synonym" }, { "name": "voltage-gated sodium channel subunit alpha Nav1.1", "type": "synonym" } ], "gene_names": [ { "name": "Scn1a", "type": "recommended" }, { "name": "Scn3a", "type": "recommended" }, { "name": "Scn1a", "type": "synonym" } ], "record_id": "P04774-1", "evidence": [ { "id": "0060041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060041" } ] }, { "uniprot_canonical_ac": "P97686-1", "uniprot_ac": "P97686", "uniprot_id": "NRCAM_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": "Neuronal cell adhesion molecule", "type": "recommended" }, { "name": "Ankyrin-binding cell adhesion molecule NrCAM", "type": "synonym" }, { "name": "Neuronal surface protein Bravo", "type": "synonym" }, { "name": "Ng-CAM-related", "type": "synonym" }, { "name": "NgCAM-related cell adhesion molecule", "type": "synonym" }, { "name": "Nr-CAM", "type": "synonym" }, { "name": "rBravo", "type": "synonym" } ], "gene_names": [ { "name": "Nrcam", "type": "recommended" } ], "record_id": "P97686-1", "evidence": [ { "id": "0060041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060041" } ] }, { "uniprot_canonical_ac": "Q9Z136-1", "uniprot_ac": "Q9Z136", "uniprot_id": "TSC1_RAT", "refseq_ac": "NP_068626", "glycoprotein": "yes", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "Hamartin", "type": "recommended" }, { "name": "Tuberous sclerosis 1 protein homolog", "type": "synonym" }, { "name": "hamartin", "type": "synonym" }, { "name": "tuberous sclerosis 1 protein homolog", "type": "synonym" } ], "gene_names": [ { "name": "Tsc1", "type": "recommended" }, { "name": "Tsc1", "type": "synonym" } ], 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"recommended" }, { "name": "IP3R-3", "type": "synonym" }, { "name": "IP3R3X", "type": "synonym" }, { "name": "IP3R3", "type": "synonym" }, { "name": "Itpr3", "type": "synonym" } ], "record_id": "Q63269-1", "evidence": [ { "id": "0060041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060041" } ] }, { "uniprot_canonical_ac": "D4A6N8-1", "uniprot_ac": "D4A6N8", "uniprot_id": "D4A6N8_RAT", "refseq_ac": "NP_001177999", "glycoprotein": "yes", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "T-box brain gene 1", "type": "synonym" }, { "name": "T-box brain protein 1", "type": "synonym" }, { "name": "T-box brain transcription factor 1", "type": "synonym" }, { "name": "T-box, brain, 1-like", "type": "synonym" } ], "gene_names": [ { "name": "Tbr1", "type": "recommended" }, { "name": "Tbr1", "type": "synonym" } ], "record_id": 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"name": "Dipeptidyl peptidase IV 60 kDa soluble form", "type": "synonym" }, { "name": "Dipeptidyl peptidase IV membrane form", "type": "synonym" }, { "name": "Dipeptidyl peptidase IV soluble form", "type": "synonym" }, { "name": "Dipeptidyl peptidase IV", "type": "synonym" }, { "name": "GP110 glycoprotein", "type": "synonym" }, { "name": "T-cell activation antigen CD26", "type": "synonym" }, { "name": "bile canaliculus domain-specific membrane glycoprotein", "type": "synonym" }, { "name": "dipeptidyl peptidase 4", "type": "synonym" }, { "name": "dipeptidyl peptidase IV", "type": "synonym" } ], "gene_names": [ { "name": "Dpp4", "type": "recommended" }, { "name": "CD26", "type": "synonym" }, { "name": "Cd26", "type": "synonym" }, { "name": "DPPIV", "type": "synonym" }, { "name": "Dpp4", "type": "synonym" } ], "record_id": "P14740-1", "evidence": [ { "id": "0060041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060041" } ] }, { "uniprot_canonical_ac": 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regulatory protein", "type": "recommended" }, { "name": "DPM synthase subunit 2", "type": "synonym" }, { "name": "Dolichol-phosphate mannose synthase subunit 2", "type": "synonym" }, { "name": "dolichol phosphate-mannose biosynthesis regulatory protein", "type": "synonym" }, { "name": "dolichol-phosphate (beta-D) mannosyltransferase 2", "type": "synonym" }, { "name": "dolichol-phosphate mannose synthase subunit 2", "type": "synonym" }, { "name": "dolichol-phosphate mannosyltransferase 2", "type": "synonym" }, { "name": "dolichyl-phosphate mannosyltransferase polypeptide 2, regulatory subunit", "type": "synonym" } ], "gene_names": [ { "name": "Dpm2", "type": "recommended" }, { "name": "Pip5kl1", "type": "recommended" }, { "name": "Dpm2", "type": "synonym" }, { "name": "Pip5kl1", "type": "synonym" } ], "record_id": "Q9Z325-1", "evidence": [ { "id": "0060041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060041" } ] }, { "uniprot_canonical_ac": "P29598-1", 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"https://www.alliancegenome.org/disease/DOID:0060041" } ] }, { "uniprot_canonical_ac": "Q05941-1", "uniprot_ac": "Q05941", "uniprot_id": "ACHA7_RAT", "refseq_ac": "NP_036964", "glycoprotein": "yes", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "Neuronal acetylcholine receptor subunit alpha-7", "type": "recommended" }, { "name": "C holinergic receptor, nicotinic, alpha polypeptide 7 (neuronal nicotinic acetycholine receptor alpha 7) (bungarotoxin alpha)", "type": "synonym" }, { "name": "Nicotinic acetylcholine receptor subunit alpha-7", "type": "synonym" }, { "name": "bungarotoxin alpha", "type": "synonym" }, { "name": "cholinergic receptor, nicotinic, alpha 7 (neuronal)", "type": "synonym" }, { "name": "cholinergic receptor, nicotinic, alpha polypeptide 7", "type": "synonym" }, { "name": "nAChR7", "type": "synonym" }, { "name": "neuronal 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norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "Interleukin-6 receptor subunit beta", "type": "recommended" }, { "name": "IL-6 receptor subunit beta", "type": "synonym" }, { "name": "IL-6R subunit beta", "type": "synonym" }, { "name": "IL-6R-beta", "type": "synonym" }, { "name": "IL-6RB", "type": "synonym" }, { "name": "Interleukin-6 signal transducer", "type": "synonym" }, { "name": "Membrane glycoprotein 130", "type": "synonym" }, { "name": "Oncostatin-M receptor subunit alpha", "type": "synonym" }, { "name": "gp130", "type": "synonym" } ], "gene_names": [ { "name": "Il6st", "type": "recommended" } ], "record_id": "P40190-1", "evidence": [ { "id": "0060041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060041" } ] }, { "uniprot_canonical_ac": "P15978-1", "uniprot_ac": "P15978", "uniprot_id": "HA11_RAT", "refseq_ac": "NP_036777", "glycoprotein": 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{ "name": "RT1-Aw2", "type": "synonym" }, { "name": "RT1-A", "type": "synonym" }, { "name": "RT1.Al", "type": "synonym" }, { "name": "RT1.EC2", "type": "synonym" }, { "name": "RT1Aw2", "type": "synonym" }, { "name": "RTS", "type": "synonym" }, { "name": "Rt1-ec2", "type": "synonym" } ], "record_id": "P15978-1", "evidence": [ { "id": "0060041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060041" } ] }, { "uniprot_canonical_ac": "P16257-1", "uniprot_ac": "P16257", "uniprot_id": "TSPO_RAT", "refseq_ac": "NP_036647", "glycoprotein": "no", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "Translocator protein", "type": "recommended" }, { "name": "Benzodiazepin receptor (peripheral)", "type": "synonym" }, { "name": "Mitochondrial benzodiazepine receptor", "type": "synonym" }, { "name": "PBR", "type": "synonym" }, { "name": "PKBS", "type": "synonym" }, { "name": "Peripheral-type benzodiazepine receptor", "type": "synonym" }, { "name": "benzodiazepine receptor, peripheral", "type": "synonym" }, { "name": "mitochondrial benzodiazepine receptor", "type": "synonym" }, { "name": "peripheral-type benzodiazepine receptor", "type": "synonym" }, { "name": "translocator protein", "type": "synonym" } ], "gene_names": [ { "name": "Tspo", "type": "recommended" }, { "name": "Bzrp", "type": "synonym" }, { "name": "MBR", "type": "synonym" }, { "name": "Mbr", "type": "synonym" }, { "name": "PTBZR02", "type": "synonym" }, { "name": "Ptbzr", "type": "synonym" }, { "name": "RATPTBZR02", "type": "synonym" }, { "name": "Tspo", "type": "synonym" } ], "record_id": "P16257-1", "evidence": [ { "id": "0060041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060041" } ] }, { "uniprot_canonical_ac": "A0A499JF18-1", "uniprot_ac": "A0A499JF18", "uniprot_id": "A0A499JF18_DROME", "refseq_ac": "NP_001356899", 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"0060041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060041" } ] }, { "uniprot_canonical_ac": "P15278-1", "uniprot_ac": "P15278", "uniprot_id": "FAS3_DROME", "refseq_ac": "NP_001286039", "glycoprotein": "yes", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "Fasciclin-3", "type": "recommended" }, { "name": "CG5803-PF", "type": "synonym" }, { "name": "FAS III", "type": "synonym" }, { "name": "Fas3-PF", "type": "synonym" }, { "name": "Fasciclin III", "type": "synonym" }, { "name": "Fasciclin-3", "type": "synonym" }, { "name": "Fasciclin-III", "type": "synonym" }, { "name": "Fasciclin3", "type": "synonym" }, { "name": "FasciclinIII", "type": "synonym" }, { "name": "FsciclinIII", "type": "synonym" }, { "name": "fascicilin III", "type": "synonym" }, { "name": "fasciclin 3, isoform F", "type": "synonym" 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"name": "Dmel\\CG43067", "type": "synonym" }, { "name": "Dmel_CG43067", "type": "synonym" }, { "name": "FoxP", "type": "synonym" }, { "name": "dFoxP", "type": "synonym" }, { "name": "fd85E", "type": "synonym" } ], "record_id": "A0A0B4K6N2-1", "evidence": [ { "id": "0060041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060041" } ] }, { "uniprot_canonical_ac": "P12080-1", "uniprot_ac": "P12080", "uniprot_id": "ITA2_DROME", "refseq_ac": "NP_001162777", "glycoprotein": "yes", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "Integrin alpha-PS2", "type": "recommended" }, { "name": "CG9623-PD", "type": "synonym" }, { "name": "PS II alpha", "type": "synonym" }, { "name": "Position-specific antigen subunit alpha-2", "type": "synonym" }, { "name": "Protein inflated", "type": "synonym" }, { "name": "alpha integrin", "type": "synonym" }, { "name": "alpha-PS2-integrin", "type": "synonym" }, { "name": "alpha-integrin", "type": "synonym" }, { "name": "alpha2 integrin", "type": "synonym" }, { "name": "alphaPS2 integrin", "type": "synonym" }, { "name": "alphaPS2-integrin", "type": "synonym" }, { "name": "alpha[[PS2]] integrin", "type": "synonym" }, { "name": "if-PD", "type": "synonym" }, { "name": "inflated, isoform D", "type": "synonym" }, { "name": "integrin PSI alpha subunit", "type": "synonym" }, { "name": "integrin alpha PS2", "type": "synonym" }, { "name": "integrin alphaPS2 subunit", "type": "synonym" }, { "name": "position-specific antigen 2", "type": "synonym" } ], "gene_names": [ { "name": "if", "type": "recommended" }, { "name": "CG9623", "type": "synonym" }, { "name": "CT27194", "type": "synonym" }, { "name": "Dmel\\CG9623", "type": "synonym" }, { "name": "IF", "type": "synonym" }, { "name": "If", "type": "synonym" }, { "name": "Integrin alpha PS2", "type": "synonym" }, { "name": 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"https://www.alliancegenome.org/disease/DOID:0060041" } ] }, { "uniprot_canonical_ac": "Q9VIC6-1", "uniprot_ac": "Q9VIC6", "uniprot_id": "Q9VIC6_DROME", "refseq_ac": "NP_001036685", "glycoprotein": "yes", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "CG34127-PB", "type": "synonym" }, { "name": "Neuroligin 3, isoform B", "type": "synonym" }, { "name": "Neuroligin 3, isoform C", "type": "synonym" }, { "name": "Nlg3-PB", "type": "synonym" }, { "name": "drosokinin receptor", "type": "synonym" }, { "name": "neuroligin 3, isoform B", "type": "synonym" }, { "name": "neuroligin3", "type": "synonym" } ], "gene_names": [ { "name": "Nlg3", "type": "recommended" }, { "name": "CG1062", "type": "synonym" }, { "name": "CG14597", "type": "synonym" }, { "name": "CG18291", "type": "synonym" }, { "name": "CG32465", "type": "synonym" }, { 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"synonym" }, { "name": "Rg", "type": "synonym" }, { "name": "fas", "type": "synonym" }, { "name": "rg", "type": "synonym" } ], "record_id": "Q9W4E2-5", "evidence": [ { "id": "0060041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060041" } ] }, { "uniprot_canonical_ac": "Q9VIG1-1", "uniprot_ac": "Q9VIG1", "uniprot_id": "Q9VIG1_DROME", "refseq_ac": "NP_610086", "glycoprotein": "no", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "CG12050-PB", "type": "synonym" }, { "name": "Lethal (2) 05287", "type": "synonym" }, { "name": "l(2)05287-PB", "type": "synonym" }, { "name": "lethal (2) 05287", "type": "synonym" } ], "gene_names": [ { "name": "l(2)05287", "type": "recommended" }, { "name": "CG12050", "type": "synonym" }, { "name": "Dmel\\CG12050", "type": "synonym" }, { "name": "Dmel_CG12050", "type": "synonym" }, { "name": "l(2)05287", "type": "synonym" } ], "record_id": "Q9VIG1-1", "evidence": [ { "id": "0060041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060041" } ] }, { "uniprot_canonical_ac": "Q3KN41-1", "uniprot_ac": "Q3KN41", "uniprot_id": "NRX1_DROME", "refseq_ac": "NP_001163687", "glycoprotein": "yes", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "Neurexin 1", "type": "recommended" }, { "name": "CG7050-PB", "type": "synonym" }, { "name": "Neurexin-1", "type": "synonym" }, { "name": "Neurexin-like", "type": "synonym" }, { "name": "Nrx-1-PB", "type": "synonym" }, { "name": "drosophila neurexin", "type": "synonym" }, { "name": "neurexin 1, isoform B", "type": "synonym" }, { "name": "neurexin 1", "type": "synonym" }, { "name": "neurexin", "type": "synonym" } ], "gene_names": [ { "name": "Nrx-1", "type": "recommended" }, { "name": "CG7050", "type": "synonym" }, { "name": "CT21808", "type": "synonym" }, { "name": "DNrx", "type": "synonym" }, { "name": "Dmel\\CG7050", "type": "synonym" }, { "name": "Dmel_CG7050", "type": "synonym" }, { "name": "Dnrx", "type": "synonym" }, { "name": "Nrx-1", "type": "synonym" }, { "name": "Nrx-I", "type": "synonym" }, { "name": "Nrx1", "type": "synonym" }, { "name": "Nrx", "type": "synonym" }, { "name": "dNRXN3", "type": "synonym" }, { "name": "dNrx", "type": "synonym" }, { "name": "dnrx-1", "type": "synonym" }, { "name": "dnrx1", "type": "synonym" }, { "name": "dnrx", "type": "synonym" }, { "name": "neurexin", "type": "synonym" }, { "name": "nrx-1", "type": "synonym" }, { "name": "nrx1", "type": "synonym" }, { "name": "nrx", "type": "synonym" } ], "record_id": "Q3KN41-1", "evidence": [ { "id": "0060041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060041" } ] }, { "uniprot_canonical_ac": "A0A6H2EDS1-1", 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}, { "name": "Dmel\\CG34139", "type": "synonym" }, { "name": "Dmel_CG34139", "type": "synonym" }, { "name": "Dnlg4", "type": "synonym" }, { "name": "Nlg4", "type": "synonym" }, { "name": "dnlg4", "type": "synonym" }, { "name": "neuroligin", "type": "synonym" }, { "name": "nlg4", "type": "synonym" } ], "record_id": "A0A6H2EDS1-1", "evidence": [ { "id": "0060041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060041" } ] }, { "uniprot_canonical_ac": "Q24210-3", "uniprot_ac": "Q24210", "uniprot_id": "CSKP_DROME", "refseq_ac": "NP_001097862", "glycoprotein": "no", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "Peripheral plasma membrane protein CASK", "type": "recommended" }, { "name": "2.7.11.17", "type": "synonym" }, { "name": "CAKI", "type": "synonym" }, { "name": "CASK ortholog", "type": "synonym" }, { "name": "CASK, isoform D", "type": "synonym" }, { "name": "CASK-PD", "type": "synonym" }, { "name": "CG6703-PD", "type": "synonym" }, { "name": "Calcium/calmodulin-dependent protein kinase", "type": "synonym" }, { "name": "Camguk/CASK adaptor protein", "type": "synonym" }, { "name": "Camguk", "type": "synonym" }, { "name": "calmodulin-dependent kinase", "type": "synonym" }, { "name": "camguk", "type": "synonym" }, { "name": "dCASK", "type": "synonym" } ], "gene_names": [ { "name": "CASK", "type": "recommended" }, { "name": "CAKI", "type": "synonym" }, { "name": "CAMGUK", "type": "synonym" }, { "name": "CASK-beta", "type": "synonym" }, { "name": "CASK", "type": "synonym" }, { "name": "CG13412", "type": "synonym" }, { "name": "CG13413", "type": "synonym" }, { "name": "CG6703", "type": "synonym" }, { "name": "CMG/CASK", "type": "synonym" }, { "name": "CMG", "type": "synonym" }, { "name": "CaSK", "type": "synonym" }, { "name": "Caki", "type": "synonym" }, { "name": "CamGUK", "type": 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}, { "name": "eIF4E-5", "type": "synonym" }, { "name": "eIF4E5-PA", "type": "synonym" }, { "name": "eukaryotic translation initiation factor 4E5", "type": "synonym" } ], "gene_names": [ { "name": "eIF4E5", "type": "recommended" }, { "name": "CG8277", "type": "synonym" }, { "name": "CT24507", "type": "synonym" }, { "name": "Dmel\\CG8277", "type": "synonym" }, { "name": "Dmel_CG8277", "type": "synonym" }, { "name": "eIF4E-5", "type": "synonym" }, { "name": "eIF4E5", "type": "synonym" }, { "name": "eIF4E", "type": "synonym" }, { "name": "eIF4F", "type": "synonym" } ], "record_id": "Q9VSB6-1", "evidence": [ { "id": "0060041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060041" } ] }, { "uniprot_canonical_ac": "Q9VSG1-1", "uniprot_ac": "Q9VSG1", "uniprot_id": "Q9VSG1_DROME", "refseq_ac": "NP_648194", "glycoprotein": "no", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "eIF-4F 25 kDa subunit", "type": "recommended" }, { "name": "CG8023-PA", "type": "synonym" }, { "name": "eIF4E-3", "type": "synonym" }, { "name": "eIF4E3-PA", "type": "synonym" }, { "name": "eukaryotic translation initiation factor 4E-3", "type": "synonym" }, { "name": "eukaryotic translation initiation factor 4E3", "type": "synonym" }, { "name": "lethal (3) L0139", "type": "synonym" } ], "gene_names": [ { "name": "eIF4E3", "type": "recommended" }, { "name": "CG8023", "type": "synonym" }, { "name": "Dmel\\CG8023", "type": "synonym" }, { "name": "Dmel_CG8023", "type": "synonym" }, { "name": "anon-WO0140519.227", "type": "synonym" }, { "name": "eIF43", "type": "synonym" }, { "name": "eIF4E-3", "type": "synonym" }, { "name": "eIF4E3", "type": "synonym" }, { "name": "eIF4E", "type": "synonym" }, { "name": "eIF4F", "type": "synonym" }, { "name": "elF4E-3", "type": "synonym" }, { "name": "l(3)0139", "type": "synonym" }, { "name": "l(3)L0139", "type": "synonym" } ], "record_id": "Q9VSG1-1", "evidence": [ { "id": "0060041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060041" } ] }, { "uniprot_canonical_ac": "Q9VRY0-1", "uniprot_ac": "Q9VRY0", "uniprot_id": "Q9VRY0_DROME", "refseq_ac": "NP_648052", "glycoprotein": "no", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "eIF-4F 25 kDa subunit", "type": "recommended" }, { "name": "CG10124-PA", "type": "synonym" }, { "name": "eIF4E-4", "type": "synonym" }, { "name": "eIF4E4-PA", "type": "synonym" }, { "name": "eukaryotic translation initiation factor 4E4", "type": "synonym" } ], "gene_names": [ { "name": "eIF4E4", "type": "recommended" }, { "name": "BEST:GH01027", "type": "synonym" }, { "name": "CG10124", "type": "synonym" }, { "name": "CT28485", "type": "synonym" }, { "name": "Dmel\\CG10124", "type": "synonym" }, { "name": "Dmel_CG10124", "type": "synonym" }, { "name": "NEST:bs04e06", "type": "synonym" }, { "name": "eIF4E-4", "type": "synonym" }, { "name": "eIF4E4", "type": "synonym" }, { "name": "eIF4E", "type": "synonym" }, { "name": "eIF4F", "type": "synonym" } ], "record_id": "Q9VRY0-1", "evidence": [ { "id": "0060041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060041" } ] }, { "uniprot_canonical_ac": "Q9VX98-1", "uniprot_ac": "Q9VX98", "uniprot_id": "DENR_DROME", "refseq_ac": "NP_001259630", "glycoprotein": "no", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "Density-regulated protein homolog", "type": "recommended" }, { "name": "CG9099-PB", "type": "synonym" }, { "name": "DENR-PB", "type": "synonym" }, { "name": "density regulated protein, isoform B", 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"eIF4E7", "type": "recommended" }, { "name": "CG11392", "type": "synonym" }, { "name": "CG11393", "type": "synonym" }, { "name": "CG32859", "type": "synonym" }, { "name": "CT31794", "type": "synonym" }, { "name": "Dmel\\CG32859", "type": "synonym" }, { "name": "Dmel_CG32859", "type": "synonym" }, { "name": "EG:BACR42I17.1", "type": "synonym" }, { "name": "eIF4E-7", "type": "synonym" }, { "name": "eIF4E7", "type": "synonym" }, { "name": "eIF4E", "type": "synonym" }, { "name": "eIF4F", "type": "synonym" } ], "record_id": "Q9W5B3-1", "evidence": [ { "id": "0060041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060041" } ] }, { "uniprot_canonical_ac": "Q9VWI2-1", "uniprot_ac": "Q9VWI2", "uniprot_id": "Q9VWI2_DROME", "refseq_ac": "NP_001285439", "glycoprotein": "no", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "CG12202-PB", "type": "synonym" }, { "name": "N(Alpha)-acetyltransferase 15/16, isoform A", "type": "synonym" }, { "name": "N(Alpha)-acetyltransferase 15/16, isoform B", "type": "synonym" }, { "name": "N(alpha)-acetyltransferase 15/16, isoform B", "type": "synonym" }, { "name": "N(alpha)-acetyltransferase 15", "type": "synonym" }, { "name": "NAT1 ortholog", "type": "synonym" }, { "name": "Naa15-16-PB", "type": "synonym" } ], "gene_names": [ { "name": "Naa15-16", "type": "recommended" }, { "name": "16", "type": "synonym" }, { "name": "CG12202", "type": "synonym" }, { "name": "Dmel\\CG12202", "type": "synonym" }, { "name": "Dmel_CG12202", "type": "synonym" }, { "name": "NAA15-16", "type": "synonym" }, { "name": "NAT1", "type": "synonym" }, { "name": "Naa15-16", "type": "synonym" }, { "name": "Naa15/16", "type": "synonym" }, { "name": "Naa15", "type": "synonym" }, { "name": "Nat1", "type": "synonym" }, { "name": "dNaa15", "type": "synonym" }, { "name": "dNat1", "type": "synonym" }, { "name": "l(1)G0311", "type": "synonym" } ], "record_id": "Q9VWI2-1", "evidence": [ { "id": "0060041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060041" } ] }, { "uniprot_canonical_ac": "P48598-1", "uniprot_ac": "P48598", "uniprot_id": "IF4E_DROME", "refseq_ac": "NP_001261626", "glycoprotein": "yes", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "Eukaryotic translation initiation factor 4E1", "type": "recommended" }, { "name": "CG4035-PH", "type": "synonym" }, { "name": "cap binding protein", "type": "synonym" }, { "name": "eIF-4F 25 kDa subunit", "type": "synonym" }, { "name": "eIF4E1-PH", "type": "synonym" }, { "name": "eukaryotic initiation factor 4E", "type": "synonym" }, { "name": "eukaryotic translation initiation factor 4E1, isoform H", "type": "synonym" }, { "name": "eukaryotic translation initiation factor 4E", "type": "synonym" }, { "name": "lethal(3)67Af", "type": "synonym" }, { "name": "mRNA cap-binding protein", "type": "synonym" } ], "gene_names": [ { "name": "eIF4E1", "type": "recommended" }, { "name": "0260/09", "type": "synonym" }, { "name": "0587/11", "type": "synonym" }, { "name": "0589/11", "type": "synonym" }, { "name": "0919/12", "type": "synonym" }, { "name": "09", "type": "synonym" }, { "name": "1004/13", "type": "synonym" }, { "name": "11", "type": "synonym" }, { "name": "12", "type": "synonym" }, { "name": "13", "type": "synonym" }, { "name": "2", "type": "synonym" }, { "name": "7238", "type": "synonym" }, { "name": "CBP", "type": "synonym" }, { "name": "CG4035", "type": "synonym" }, { "name": "CT13384", "type": "synonym" }, { "name": "CT39424", "type": "synonym" }, { "name": "CT39426", "type": "synonym" }, { "name": "D-eIF4E", "type": "synonym" }, { "name": "Dmel\\CG4035", "type": "synonym" }, { "name": "Dmel_CG4035", "type": "synonym" }, { "name": "EIF4E", "type": "synonym" }, { "name": "Eif4E", "type": "synonym" }, { "name": "Eif4e", "type": "synonym" }, { "name": "IF4E", "type": "synonym" }, { "name": "dEif-4e", "type": "synonym" }, { "name": "dEif4e", "type": "synonym" }, { "name": "deIF-4E", "type": "synonym" }, { "name": "deIF4E", "type": "synonym" }, { "name": "eIF 4E", "type": "synonym" }, { "name": "eIF-4E1", "type": "synonym" }, { "name": "eIF-4E2", "type": "synonym" }, { "name": "eIF-4EII", "type": "synonym" }, { "name": "eIF-4E", "type": "synonym" }, { "name": "eIF-4e", "type": "synonym" }, { "name": "eIF4E-1/2", "type": "synonym" }, { "name": "eIF4E-1", "type": "synonym" }, { "name": "eIF4E-2", "type": "synonym" }, { "name": "eIF4E1", "type": "synonym" }, { "name": "eIF4EI", "type": "synonym" }, { "name": "eIF4E", "type": "synonym" }, { "name": "eIF4F", "type": "synonym" }, { "name": "eIF4e", "type": "synonym" }, { "name": "eiF4E", "type": "synonym" }, { "name": "eif-4E", "type": "synonym" }, { "name": "eif-4e", "type": "synonym" }, { "name": "eif4e", "type": "synonym" }, { "name": "elF4E", "type": "synonym" }, { "name": "l(3)07238", "type": "synonym" }, { "name": "l(3)67Af", "type": "synonym" }, { "name": "l(3)S025007", "type": "synonym" }, { "name": "l(3)S026009", "type": "synonym" }, { "name": "l(3)S058711", "type": "synonym" }, { "name": "l(3)S091912", "type": "synonym" } ], "record_id": "P48598-1", "evidence": [ { "id": "0060041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060041" } ] }, { "uniprot_canonical_ac": "Q9NFU0-1", "uniprot_ac": "Q9NFU0", "uniprot_id": "FMR1_DROME", "refseq_ac": "NP_001303443", "glycoprotein": "no", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "Fragile X messenger ribonucleoprotein 1 homolog", "type": "recommended" }, { "name": "CG6203-PJ", "type": "synonym" }, { "name": "FMRP", "type": "synonym" }, { "name": "Fmr1-PJ", "type": "synonym" }, { "name": "Fragile-X mental retardation 1", "type": "synonym" }, { "name": "Fragile-X mental retardation protein", "type": "synonym" }, { "name": "Fragile-X-related", "type": "synonym" }, { "name": "cg 6203 gene product from transcript cg6203-rc", "type": "synonym" }, { "name": "dFMR1", "type": "synonym" }, { "name": "dFMR", "type": "synonym" }, { "name": "dFmr1", "type": "synonym" }, { "name": "drosophila fragile X mental retardation protein", "type": "synonym" }, { "name": "fragile X mental retardation 1", "type": "synonym" }, { "name": "fragile X mental retardation gene", "type": "synonym" }, { "name": "fragile X mental retardation protein 1", "type": "synonym" }, { "name": "fragile X mental retardation protein", "type": "synonym" }, { "name": "fragile X mental retardation related 1", "type": "synonym" }, { "name": "fragile X messenger ribonucleoprotein 1, isoform J", "type": "synonym" }, { "name": "fragile X protein", "type": "synonym" }, { "name": "fragile X related protein", "type": "synonym" }, { "name": "fragile X retardation 1 protein", "type": "synonym" }, { "name": "fragile X-related", "type": "synonym" }, { "name": "fragile x related", "type": "synonym" }, { "name": "fragile-X", "type": "synonym" } ], "gene_names": [ { "name": "Fmr1", "type": "recommended" }, { "name": "AT24755", "type": "synonym" }, { "name": "BcDNA:GM08679", "type": "synonym" }, { "name": "CG6203", "type": "synonym" }, { "name": "DFMRP", "type": "synonym" }, { "name": "DFmr1", "type": "synonym" }, { "name": "Dfmr", "type": "synonym" }, { "name": "Dmel\\CG6203", "type": "synonym" }, { "name": "Dmel_CG6203", "type": "synonym" }, { "name": "EP(3)3517", "type": "synonym" }, { "name": "FMR1", "type": "synonym" }, { "name": "FMRP", "type": "synonym" }, { "name": "FMRp", "type": "synonym" }, { "name": "FMR", "type": "synonym" }, { "name": "FXR", "type": "synonym" }, { "name": "Fmr1", "type": "synonym" }, { 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melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "CG6975-PA", "type": "synonym" }, { "name": "Gigas, isoform A", "type": "synonym" }, { "name": "gig-PA", "type": "synonym" }, { "name": "gigas, isoform A", "type": "synonym" }, { "name": "gigas", "type": "synonym" }, { "name": "lethal(3)109", "type": "synonym" }, { "name": "tuberous sclerosis complex 2", "type": "synonym" } ], "gene_names": [ { "name": "gig", "type": "recommended" }, { "name": "6975", "type": "synonym" }, { "name": "C1", "type": "synonym" }, { "name": "CG6975", "type": "synonym" }, { "name": "Dmel\\CG6975", "type": "synonym" }, { "name": "Dmel_CG6975", "type": "synonym" }, { "name": "FBpp0074588", "type": "synonym" }, { "name": "Gigas", "type": "synonym" }, { "name": "ME 109", "type": "synonym" }, { "name": "TSC2", "type": "synonym" }, { "name": "TsC2", "type": "synonym" }, { "name": "Tsc2/gig", 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}, { "name": "CrebB-PP", "type": "synonym" }, { "name": "Cyclic-AMP response element binding protein B at 17A", "type": "synonym" }, { "name": "Cyclic-AMP response element binding protein B at 17B", "type": "synonym" }, { "name": "Cyclic-AMP response element binding protein B, isoform P", "type": "synonym" }, { "name": "activator", "type": "synonym" }, { "name": "blocker", "type": "synonym" }, { "name": "cAMP response element binding", "type": "synonym" }, { "name": "cAMP response element-binding protein B", "type": "synonym" }, { "name": "cAMP response element-binding protein", "type": "synonym" }, { "name": "cAMP response-element binding protein", "type": "synonym" }, { "name": "cAMP-regulated enhancer-binding protein", "type": "synonym" }, { "name": "cAMP-response element binding protein", "type": "synonym" }, { "name": "cAMP-response element-binding protein", "type": "synonym" }, { "name": "cyclic AMP response element binding protein", "type": "synonym" }, { "name": "dCREB-B", "type": "synonym" }, { "name": "dCREB2", "type": "synonym" }, { "name": "lethal(1)17Af", "type": "synonym" } ], "gene_names": [ { "name": "CrebB", "type": "recommended" }, { "name": "CG6103", "type": "synonym" }, { "name": "CRE-BP", "type": "synonym" }, { "name": "CREB-B", "type": "synonym" }, { "name": "CREB-b", "type": "synonym" }, { "name": "CREB2-b", "type": "synonym" }, { "name": "CREB2a", "type": "synonym" }, { "name": "CREB2b", "type": "synonym" }, { "name": "CREB2", "type": "synonym" }, { "name": "CREB", "type": "synonym" }, { "name": "Creb B 17A", "type": "synonym" }, { "name": "Creb-B", "type": "synonym" }, { "name": "Creb17A", "type": "synonym" }, { "name": "Creb2-b", "type": "synonym" }, { "name": "Creb2.b", "type": "synonym" }, { "name": "Creb2b", "type": "synonym" }, { "name": "Creb2", "type": "synonym" }, { "name": "CrebB-17A", "type": "synonym" }, { "name": "CrebB-17B", "type": "synonym" }, { "name": "CrebB17-A", "type": "synonym" }, { "name": "CrebB", "type": "synonym" 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"evidence": [ { "id": "0060041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060041" } ] }, { "uniprot_canonical_ac": "Q9V3N5-1", "uniprot_ac": "Q9V3N5", "uniprot_id": "Q9V3N5_DROME", "refseq_ac": "NP_570054", "glycoprotein": "no", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "AAA+ ATPase domain-containing protein", "type": "recommended" }, { "name": "CG10793-PA", "type": "synonym" }, { "name": "In dunce", "type": "synonym" }, { "name": "uncharacterized protein", "type": "synonym" } ], "gene_names": [ { "name": "Dmel\\CG10793", "type": "recommended" }, { "name": "CG10793", "type": "synonym" }, { "name": "Dmel\\CG10793", "type": "synonym" }, { "name": "Dmel_CG10793", "type": "synonym" }, { "name": "Indnc", "type": "synonym" }, { "name": "indnc", "type": "synonym" } ], "record_id": "Q9V3N5-1", "evidence": [ { "id": "0060041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060041" } ] }, { "uniprot_canonical_ac": "P20228-1", "uniprot_ac": "P20228", "uniprot_id": "DCE_DROME", "refseq_ac": "NP_001261396", "glycoprotein": "no", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "Glutamate decarboxylase", "type": "recommended" }, { "name": "4.1.1.15", "type": "synonym" }, { "name": "CG14994-PD", "type": "synonym" }, { "name": "GABA synthetase", "type": "synonym" }, { "name": "GAD", "type": "synonym" }, { "name": "Gad1-PD", "type": "synonym" }, { "name": "glutamate decarboxylase", "type": "synonym" }, { "name": "glutamatic acid decarboxylase", "type": "synonym" }, { "name": "glutamic acid decarboxylase 1, isoform D", "type": "synonym" }, { "name": "glutamic acid decarboxylase 1", "type": "synonym" }, { "name": "glutamic acid decarboxylase-1", "type": "synonym" }, { "name": "vesicular glutamic acid decarboxylase", "type": "synonym" } ], "gene_names": [ { "name": "Gad1", "type": "recommended" }, { "name": "CG14994", "type": "synonym" }, { "name": "DGAD1", "type": "synonym" }, { "name": "DGad1", "type": "synonym" }, { "name": "Dm-GDC", "type": "synonym" }, { "name": "Dmel\\CG14994", "type": "synonym" }, { "name": "Dmel_CG14994", "type": "synonym" }, { "name": "GAD-1", "type": "synonym" }, { "name": "GAD1", "type": "synonym" }, { "name": "GAD[[1]]", "type": "synonym" }, { "name": "GAD", "type": "synonym" }, { "name": "Gad1", "type": "synonym" }, { "name": "Gad", "type": "synonym" }, { "name": "Glb", "type": "synonym" }, { "name": "dGad1", "type": "synonym" }, { "name": "dgad1", "type": "synonym" }, { "name": "gad1", "type": "synonym" }, { "name": "gad", "type": "synonym" }, { "name": "l(3)64An", "type": "synonym" }, { "name": "l(3)SH10", "type": "synonym" } ], "record_id": "P20228-1", "evidence": [ { "id": "0060041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060041" } ] }, { "uniprot_canonical_ac": "P91926-1", "uniprot_ac": "P91926", "uniprot_id": "AP2A_DROME", "refseq_ac": "NP_476819", "glycoprotein": "no", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "AP-2 complex subunit alpha", "type": "recommended" }, { "name": "AP-2alpha-PA", "type": "synonym" }, { "name": "Alpha-adaptin", "type": "synonym" }, { "name": "CG4260-PA", "type": "synonym" }, { "name": "adaptor protein complex 2, alpha subunit, isoform A", "type": "synonym" }, { "name": "alpha adaptin", "type": "synonym" }, { "name": "alphaAdaptin", "type": "synonym" }, { "name": "clathrin AP-2 complex", "type": "synonym" }, { "name": "lethal (2) SH0460", "type": "synonym" } ], "gene_names": [ { "name": "AP-2alpha", "type": "recommended" }, { "name": "AP-2alpha", "type": "synonym" }, { "name": "AP-2", "type": "synonym" }, { "name": "AP2alpha", "type": "synonym" }, { "name": "AP2", "type": "synonym" }, { "name": "Ada", "type": "synonym" }, { "name": "Alpha-Adaptin", "type": "synonym" }, { "name": "Ap-2alpha", "type": "synonym" }, { "name": "CG31654", "type": "synonym" }, { "name": "CG4260", "type": "synonym" }, { "name": "D-Ada", "type": "synonym" }, { "name": "D-alphaAda", "type": "synonym" }, { "name": "Dmel\\CG4260", "type": "synonym" }, { "name": "MENE (2L)-A", "type": "synonym" }, { "name": "MENE(2L)-A", "type": "synonym" }, { "name": "ada", "type": "synonym" }, { "name": "alpha-Adaptin", "type": "synonym" }, { "name": "alpha-Ada", "type": "synonym" }, { "name": "alpha-adaptin", "type": "synonym" }, { "name": "alpha-ada", "type": "synonym" }, { "name": "alphaAda", "type": "synonym" }, { "name": "alphaada", "type": "synonym" }, { "name": "alpha", "type": "synonym" }, { "name": "apl3", "type": "synonym" 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"taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "Calbindin-32", "type": "recommended" }, { "name": "CG6702-PB", "type": "synonym" }, { "name": "Cbp53E-PB", "type": "synonym" }, { "name": "calbindin 32", "type": "synonym" }, { "name": "calbindin 53E, isoform B", "type": "synonym" }, { "name": "calbindin-32", "type": "synonym" }, { "name": "calretinin", "type": "synonym" } ], "gene_names": [ { "name": "Cbp53E", "type": "recommended" }, { "name": "CALB2/calretinin", "type": "synonym" }, { "name": "CALB2", "type": "synonym" }, { "name": "CG6702", "type": "synonym" }, { "name": "Calb", "type": "synonym" }, { "name": "Cbp33", "type": "synonym" }, { "name": "Cbp53E", "type": "synonym" }, { "name": "DCBP", "type": "synonym" }, { "name": "Dcbp", "type": "synonym" }, { "name": "Dcp", "type": "synonym" }, { "name": "Dmel\\CG6702", "type": "synonym" }, { "name": "Dmel_CG6702", "type": "synonym" }, { "name": "calretinin", "type": "synonym" }, { "name": "cbn", "type": "synonym" }, { "name": "cbp53E", "type": "synonym" } ], "record_id": "P41044-1", "evidence": [ { "id": "0060041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060041" } ] }, { "uniprot_canonical_ac": "Q9VUV4-1", "uniprot_ac": "Q9VUV4", "uniprot_id": "Q9VUV4_DROME", "refseq_ac": "NP_648814", "glycoprotein": "yes", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "non-specific serine/threonine protein kinase", "type": "recommended" }, { "name": "2.7.11.1", "type": "synonym" }, { "name": "CG6114-PA", "type": "synonym" }, { "name": "SNF1-related", "type": "synonym" }, { "name": "sff-PA", "type": "synonym" }, { "name": "sugar-free frosting, isoform A", "type": "synonym" } ], "gene_names": [ { "name": "sff", "type": "recommended" }, { "name": "BRSK1", "type": "synonym" }, { "name": "CG6114", "type": "synonym" }, { "name": "Dmel\\CG6114", "type": "synonym" }, { "name": "Dmel_CG6114", "type": "synonym" }, { "name": "sff", "type": "synonym" } ], "record_id": "Q9VUV4-1", "evidence": [ { "id": "0060041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060041" } ] }, { "uniprot_canonical_ac": "Q7PLL3-1", "uniprot_ac": "Q7PLL3", "uniprot_id": "Q7PLL3_DROME", "refseq_ac": "NP_001015319", "glycoprotein": "no", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "CG10837-PB", "type": "synonym" }, { "name": "Eukaryotic translation initiation factor 4B, isoform B", "type": "synonym" }, { "name": "eIF4B-PB", "type": "synonym" }, { "name": "eukaryotic initiation factor 4B", "type": "synonym" }, { "name": "eukaryotic translation initiation factor 4B, isoform B", "type": "synonym" } ], "gene_names": [ { "name": "eIF4B", "type": "recommended" }, { "name": "CG10837", "type": "synonym" }, { "name": "Dm-eIF4B", "type": "synonym" }, { "name": "Dmel\\CG10837", "type": "synonym" }, { "name": "Dmel_CG10837", "type": "synonym" }, { "name": "EIF-4B", "type": "synonym" }, { "name": "EIF4B", "type": "synonym" }, { "name": "Eif4B", "type": "synonym" }, { "name": "eIF-4B-L", "type": "synonym" }, { "name": "eIF-4B-S", "type": "synonym" }, { "name": "eIF-4B", "type": "synonym" }, { "name": "eIF-4b", "type": "synonym" }, { "name": "eIF4B-L", "type": "synonym" }, { "name": "eIF4B-S", "type": "synonym" }, { "name": "eIF4B", "type": "synonym" }, { "name": "eIf4b", "type": "synonym" } ], "record_id": "Q7PLL3-1", "evidence": [ { "id": "0060041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060041" } ] }, { "uniprot_canonical_ac": "Q02936-1", "uniprot_ac": "Q02936", "uniprot_id": "HH_DROME", "refseq_ac": 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"A0A0B4KER0-1", "uniprot_ac": "A0A0B4KER0", "uniprot_id": "A0A0B4KER0_DROME", "refseq_ac": "NP_001260992", "glycoprotein": "yes", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "CG8092-PC", "type": "synonym" }, { "name": "Relative of woc, isoform C", "type": "synonym" }, { "name": "Relative-of-WOC", "type": "synonym" }, { "name": "relative of woc, isoform C", "type": "synonym" }, { "name": "row-PC", "type": "synonym" } ], "gene_names": [ { "name": "row", "type": "recommended" }, { "name": "CG8092", "type": "synonym" }, { "name": "Dmel\\CG8092", "type": "synonym" }, { "name": "Dmel_CG8092", "type": "synonym" }, { "name": "ROW", "type": "synonym" }, { "name": "Row", "type": "synonym" }, { "name": "anon-WO0118547.194", "type": "synonym" }, { "name": "row", "type": "synonym" } ], "record_id": "A0A0B4KER0-1", "evidence": [ { "id": "0060041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060041" } ] }, { "uniprot_canonical_ac": "P22265-1", "uniprot_ac": "P22265", "uniprot_id": "TSH_DROME", "refseq_ac": "NP_523615", "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 teashirt", "type": "recommended" }, { "name": "CG1374-PA", "type": "synonym" }, { "name": "T-shirt", "type": "synonym" }, { "name": "aeroplane", "type": "synonym" }, { "name": "teashirt", "type": "synonym" }, { "name": "tsh-PA", "type": "synonym" } ], "gene_names": [ { "name": "tsh", "type": "recommended" }, { "name": "CG1374", "type": "synonym" }, { "name": "Dmel\\CG1374", "type": "synonym" }, { "name": "T shirt", "type": "synonym" }, { "name": "TSH", "type": "synonym" }, { "name": "Tsh", "type": "synonym" }, { "name": "ae[l]", "type": 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"url": "https://www.alliancegenome.org/disease/DOID:0060041" } ] }, { "uniprot_canonical_ac": "Q8ING5-1", "uniprot_ac": "Q8ING5", "uniprot_id": "Q8ING5_DROME", "refseq_ac": "NP_001287320", "glycoprotein": "no", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "Vesicle-fusing ATPase", "type": "recommended" }, { "name": "3.6.4.6", "type": "synonym" }, { "name": "CG31495-PB", "type": "synonym" }, { "name": "uncharacterized protein, isoform B", "type": "synonym" } ], "gene_names": [ { "name": "Dmel\\CG31495", "type": "recommended" }, { "name": "CG31495", "type": "synonym" }, { "name": "CG9931", "type": "synonym" }, { "name": "Dmel\\CG31495", "type": "synonym" }, { "name": "Dmel_CG31495", "type": "synonym" } ], "record_id": "Q8ING5-1", "evidence": [ { "id": "0060041", "database": "AGR", "url": 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"type": "synonym" } ], "record_id": "Q9NHE5-2", "evidence": [ { "id": "0060041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060041" } ] }, { "uniprot_canonical_ac": "Q8IN94-1", "uniprot_ac": "Q8IN94", "uniprot_id": "OSA_DROME", "refseq_ac": "NP_001163639", "glycoprotein": "yes", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "Trithorax group protein osa", "type": "recommended" }, { "name": "CG7467-PD", "type": "synonym" }, { "name": "Protein eyelid", "type": "synonym" }, { "name": "eye lid", "type": "synonym" }, { "name": "eyelid", "type": "synonym" }, { "name": "osa, isoform D", "type": "synonym" }, { "name": "osa-PD", "type": "synonym" } ], "gene_names": [ { "name": "osa", "type": "recommended" }, { "name": "4H", "type": "synonym" }, { "name": "ARID1B", "type": "synonym" }, { "name": "C819", 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"species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "Disks large 1 tumor suppressor protein", "type": "recommended" }, { "name": "CG1725-PK", "type": "synonym" }, { "name": "Disc-Large", "type": "synonym" }, { "name": "Discs-large 1", "type": "synonym" }, { "name": "Discs-large", "type": "synonym" }, { "name": "Dlg", "type": "synonym" }, { "name": "disc large", "type": "synonym" }, { "name": "disclarge", "type": "synonym" }, { "name": "discs large 1, isoform K", "type": "synonym" }, { "name": "discs large 1", "type": "synonym" }, { "name": "discslarge", "type": "synonym" }, { "name": "disk large", "type": "synonym" }, { "name": "dlg1-PK", "type": "synonym" }, { "name": "lethal(1)benign wing imaginal disc neoplasm", "type": "synonym" }, { "name": "lethal(1)discs large", "type": "synonym" }, { "name": "lethal(1)discs-large", "type": 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"synonym" }, { "name": "anon-WO03040301.260", "type": "synonym" }, { "name": "anon-WO03040301.268", "type": "synonym" }, { "name": "d. lg.-1", "type": "synonym" }, { "name": "dlg-1", "type": "synonym" }, { "name": "dlg-A", "type": "synonym" }, { "name": "dlg1", "type": "synonym" }, { "name": "dlgA", "type": "synonym" }, { "name": "dlgS97", "type": "synonym" }, { "name": "dlg", "type": "synonym" }, { "name": "l(1)10Bf", "type": "synonym" }, { "name": "l(1)G0276", "type": "synonym" }, { "name": "l(1)G0342", "type": "synonym" }, { "name": "l(1)G0456", "type": "synonym" }, { "name": "l(1)G19", "type": "synonym" }, { "name": "l(1)L11", "type": "synonym" }, { "name": "l(1)bwn", "type": "synonym" }, { "name": "l(1)d.lg-1", "type": "synonym" }, { "name": "l(1)d.lg.-1", "type": "synonym" }, { "name": "l(1)discs large", "type": "synonym" }, { "name": "l(1)dlg-1", "type": "synonym" }, { "name": "l(1)dlg1", "type": "synonym" }, { "name": "l(1)dlg", "type": "synonym" }, { "name": "l(1)l.pr.-2", 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"synonym" }, { "name": "Dmel\\CG43658", "type": "synonym" }, { "name": "Dmel_CG43658", "type": "synonym" } ], "record_id": "M9PHU0-1", "evidence": [ { "id": "0060041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060041" } ] }, { "uniprot_canonical_ac": "Q6AWG9-1", "uniprot_ac": "Q6AWG9", "uniprot_id": "Y5098_DROME", "refseq_ac": "NP_001097363", "glycoprotein": "yes", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "Uncharacterized protein CG5098", "type": "recommended" }, { "name": "CG5098-PB", "type": "synonym" }, { "name": "uncharacterized protein, isoform B", "type": "synonym" } ], "gene_names": [ { "name": "Dmel\\CG5098", "type": "recommended" }, { "name": "CG5098", "type": "synonym" }, { "name": "Dmel\\CG5098", "type": "synonym" }, { "name": "Dmel_CG5098", "type": "synonym" } ], "record_id": "Q6AWG9-1", "evidence": [ { "id": "0060041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060041" } ] }, { "uniprot_canonical_ac": "Q9W1B3-1", "uniprot_ac": "Q9W1B3", "uniprot_id": "Q9W1B3_DROME", "refseq_ac": "NP_611881", "glycoprotein": "no", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "Carboxylesterase type B domain-containing protein", "type": "recommended" }, { "name": "CG10339-PA", "type": "synonym" }, { "name": "uncharacterized protein", "type": "synonym" } ], "gene_names": [ { "name": "Dmel\\CG10339", "type": "recommended" }, { "name": "CG10339", "type": "synonym" }, { "name": "Dmel\\CG10339", "type": "synonym" }, { "name": "Dmel_CG10339", "type": "synonym" } ], "record_id": "Q9W1B3-1", "evidence": [ { "id": "0060041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060041" } ] }, { "uniprot_canonical_ac": "Q24418-1", "uniprot_ac": "Q24418", "uniprot_id": "NMDA1_DROME", "refseq_ac": "NP_730940", "glycoprotein": "yes", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "Glutamate [NMDA] receptor subunit 1", "type": "recommended" }, { "name": "CG2902-PA", "type": "synonym" }, { "name": "DNMDAR-I", "type": "synonym" }, { "name": "NMDA receptor 1", "type": "synonym" }, { "name": "NMDA receptor I", "type": "synonym" }, { "name": "NMDA receptor", "type": "synonym" }, { "name": "NMDAR", "type": "synonym" }, { "name": "Nmdar1-PA", "type": "synonym" }, { "name": "dNR1", "type": "synonym" } ], "gene_names": [ { "name": "Nmdar1", "type": "recommended" }, { "name": "CG2902", "type": "synonym" }, { "name": "DMNMDAR1", "type": "synonym" }, { "name": "DNMDAR-I", 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"https://www.alliancegenome.org/disease/DOID:0060041" } ] }, { "uniprot_canonical_ac": "Q9VKC2-1", "uniprot_ac": "Q9VKC2", "uniprot_id": "Q9VKC2_DROME", "refseq_ac": "NP_001245996", "glycoprotein": "no", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "CG12317-PC", "type": "synonym" }, { "name": "JhI-21-PC", "type": "synonym" }, { "name": "Juvenile hormone Inducible-21, isoform A", "type": "synonym" }, { "name": "Juvenile hormone Inducible-21, isoform B", "type": "synonym" }, { "name": "Juvenile hormone Inducible-21, isoform C", "type": "synonym" }, { "name": "Juvenile hormone Inducible-21, isoform D", "type": "synonym" }, { "name": "Juvenile hormone Inducible-21, isoform E", "type": "synonym" }, { "name": "juvenile hormone Inducible-21, isoform C", "type": "synonym" }, { "name": "solute carrier 7-family amino acid transporter", "type": "synonym" } ], "gene_names": [ { "name": "JhI-21", "type": "recommended" }, { "name": "CG12317", "type": "synonym" }, { "name": "Dmel\\CG12317", "type": "synonym" }, { "name": "Dmel_CG12317", "type": "synonym" }, { "name": "JHI-21", "type": "synonym" }, { "name": "JhI-21", "type": "synonym" }, { "name": "Jhl-21", "type": "synonym" }, { "name": "jhl-21", "type": "synonym" } ], "record_id": "Q9VKC2-1", "evidence": [ { "id": "0060041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060041" } ] }, { "uniprot_canonical_ac": "M9MS40-1", "uniprot_ac": "M9MS40", "uniprot_id": "M9MS40_DROME", "refseq_ac": "NP_001188575", "glycoprotein": "yes", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "histone acetyltransferase", "type": "recommended" }, { "name": "2.3.1.48", "type": "synonym" }, { "name": "CBP histone acetyltransferase", "type": "synonym" }, { "name": "CBP/Nejire", "type": "synonym" }, { "name": "CG15319-PC", "type": "synonym" }, { "name": "CREB binding protein", "type": "synonym" }, { "name": "CREB-binding protein", "type": "synonym" }, { "name": "cyclic AMP response element binding protein", "type": "synonym" }, { "name": "drosophila CREB-binding protein", "type": "synonym" }, { "name": "lethal (1) G0112", "type": "synonym" }, { "name": "lethal (1) G0350", "type": "synonym" }, { "name": "lethal (1) G0470", "type": "synonym" }, { "name": "nej-PC", "type": "synonym" }, { "name": "nejire, isoform C", "type": "synonym" }, { "name": "nejire", "type": "synonym" } ], "gene_names": [ { "name": "nej", "type": "recommended" }, { "name": "CBP/p300", "type": "synonym" }, { "name": "CBP_", "type": "synonym" }, { "name": "CBP", "type": "synonym" }, { "name": "CG15319", "type": "synonym" }, { "name": "CG15321", "type": "synonym" }, { "name": "Cbp", "type": "synonym" }, { 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"common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "Protein prickle", "type": "recommended" }, { "name": "CG11084-PA", "type": "synonym" }, { "name": "Protein spiny legs", "type": "synonym" }, { "name": "pk-PA", "type": "synonym" }, { "name": "prickle, isoform A", "type": "synonym" }, { "name": "prickle-spiny legs", "type": "synonym" }, { "name": "prickle-spiny-legs", "type": "synonym" }, { "name": "spiny leg", "type": "synonym" } ], "gene_names": [ { "name": "pk", "type": "recommended" }, { "name": "CG11084", "type": "synonym" }, { "name": "CG12830", "type": "synonym" }, { "name": "Dmel\\CG11084", "type": "synonym" }, { "name": "PK", "type": "synonym" }, { "name": "Pk-Sple", "type": "synonym" }, { "name": "Pk", "type": "synonym" }, { "name": "Sple", "type": "synonym" }, { "name": "pk-sple", "type": "synonym" }, { "name": "pkM", "type": "synonym" }, { "name": "pk", "type": "synonym" }, { 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"type": "synonym" }, { "name": "Dmel\\CG3297", "type": "synonym" }, { "name": "Dmel_CG3297", "type": "synonym" }, { "name": "MND", "type": "synonym" }, { "name": "Mnd", "type": "synonym" }, { "name": "SG29", "type": "synonym" }, { "name": "l(3)B5", "type": "synonym" }, { "name": "l(3)SG29", "type": "synonym" }, { "name": "l(3)ds-5", "type": "synonym" }, { "name": "l(3)ds5", "type": "synonym" }, { "name": "l(3)o52", "type": "synonym" }, { "name": "md", "type": "synonym" }, { "name": "mnd", "type": "synonym" } ], "record_id": "Q9Y1A7-1", "evidence": [ { "id": "0060041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060041" } ] }, { "uniprot_canonical_ac": "Q7K4B3-1", "uniprot_ac": "Q7K4B3", "uniprot_id": "ELP2_DROME", "refseq_ac": "NP_610600", "glycoprotein": "no", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "Elongator complex protein 2", "type": "recommended" }, { "name": "CG11887-PA", "type": "synonym" }, { "name": "Elp2-PA", "type": "synonym" }, { "name": "StIP", "type": "synonym" }, { "name": "Stat3-interacting protein homolog", "type": "synonym" }, { "name": "elongator complex protein 2", "type": "synonym" } ], "gene_names": [ { "name": "Elp2", "type": "recommended" }, { "name": "CG1187", "type": "synonym" }, { "name": "CG11887", "type": "synonym" }, { "name": "D-elp2", "type": "synonym" }, { "name": "Dmel\\CG11887", "type": "synonym" }, { "name": "Elp2", "type": "synonym" }, { "name": "StIP", "type": "synonym" }, { "name": "Stip", "type": "synonym" }, { "name": "elp-2", "type": "synonym" }, { "name": "elp2", "type": "synonym" } ], "record_id": "Q7K4B3-1", "evidence": [ { "id": "0060041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060041" } ] }, { "uniprot_canonical_ac": "Q9VTH1-1", "uniprot_ac": "Q9VTH1", "uniprot_id": "Q9VTH1_DROME", "refseq_ac": "NP_648452", "glycoprotein": "no", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "HECT-type E3 ubiquitin transferase", "type": "recommended" }, { "name": "2.3.2.26", "type": "synonym" }, { "name": "CG6190-PA", "type": "synonym" }, { "name": "Ube3a-PA", "type": "synonym" }, { "name": "Ubiquitin-protein ligase E3A", "type": "synonym" }, { "name": "angelman syndrome", "type": "synonym" }, { "name": "drosophila angelman syndrome", "type": "synonym" }, { "name": "ubiquitin protein ligase 3a", "type": "synonym" }, { "name": "ubiquitin protein ligase E3A", "type": "synonym" } ], "gene_names": [ { "name": "Ube3a", "type": "recommended" }, { "name": "AS", "type": "synonym" }, { "name": "As", "type": "synonym" }, { "name": "CG6190", "type": "synonym" }, { "name": "Dmel\\CG6190", "type": "synonym" }, { "name": "Dmel_CG6190", "type": "synonym" }, { "name": "Dube3A", "type": "synonym" }, { "name": "Dube3a", "type": "synonym" }, { "name": "NM_140195.2", "type": "synonym" }, { "name": "UBE3A", "type": "synonym" }, { "name": "Ube3A", "type": "synonym" }, { "name": "Ube3a", "type": "synonym" }, { "name": "dUBE3A", "type": "synonym" }, { "name": "dUbe3A", "type": "synonym" }, { "name": "dUbe3a", "type": "synonym" }, { "name": "das", "type": "synonym" }, { "name": "dube3A", "type": "synonym" }, { "name": "dube3a", "type": "synonym" }, { "name": "ube3a", "type": "synonym" } ], "record_id": "Q9VTH1-1", "evidence": [ { "id": "0060041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060041" } ] }, { "uniprot_canonical_ac": "B7Z0E2-1", "uniprot_ac": "B7Z0E2", "uniprot_id": "UNR_DROME", "refseq_ac": "NP_001137912", "glycoprotein": "no", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "RNA-binding protein Unr", "type": "recommended" }, { "name": "CG7015-PB", "type": "synonym" }, { "name": "Protein upstream of N-ras homolog", "type": "synonym" }, { "name": "Unr-PB", "type": "synonym" }, { "name": "upstream of N-ras, isoform B", "type": "synonym" }, { "name": "upstream of N-ras", "type": "synonym" } ], "gene_names": [ { "name": "Unr", "type": "recommended" }, { "name": "BcDNA:LD13080", "type": "synonym" }, { "name": "CG7015", "type": "synonym" }, { "name": "CR32028", "type": "synonym" }, { "name": "Dmel\\CG7015", "type": "synonym" }, { "name": "MRE30", "type": "synonym" }, { "name": "UNR", "type": "synonym" }, { "name": "Unr", "type": "synonym" }, { "name": "dUNR", "type": "synonym" }, { "name": "dUnr", "type": "synonym" }, { "name": "dunr", "type": "synonym" }, { "name": "unr", "type": "synonym" } ], "record_id": "B7Z0E2-1", "evidence": [ { "id": "0060041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060041" } ] }, { "uniprot_canonical_ac": "Q0KHQ5-1", "uniprot_ac": "Q0KHQ5", "uniprot_id": "TAO_DROME", "refseq_ac": "NP_001188672", "glycoprotein": "no", "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 Tao", "type": "recommended" }, { "name": "2.7.11.1", "type": "synonym" }, { "name": "CG14217-PF", "type": "synonym" }, { "name": "Tao, isoform F", "type": "synonym" }, { "name": "Tao-1", "type": "synonym" }, { "name": "Tao-PF", "type": "synonym" }, { "name": "Tao1", "type": "synonym" } ], "gene_names": [ { "name": "Tao", "type": "recommended" }, { "name": "AAF48973", "type": "synonym" }, { "name": "CG14217", "type": "synonym" }, { "name": "Dmel\\CG14217", "type": "synonym" }, { "name": "Dmel_CG14217", "type": "synonym" }, { "name": "MARKK", "type": "synonym" }, { "name": "TAO-1", "type": "synonym" }, { "name": "TAO1", "type": "synonym" }, { "name": "Tao-1", "type": "synonym" }, { "name": "Tao1", "type": "synonym" }, { "name": "Tao", "type": "synonym" }, { "name": "dTao-1", "type": "synonym" }, { "name": "tao-1", "type": "synonym" }, { "name": "tao1", "type": "synonym" }, { "name": "tao", "type": "synonym" } ], "record_id": "Q0KHQ5-1", "evidence": [ { "id": "0060041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060041" } ] }, { "uniprot_canonical_ac": "Q9VJJ7-1", "uniprot_ac": "Q9VJJ7", "uniprot_id": "TRPG_DROME", "refseq_ac": "NP_609802", "glycoprotein": "no", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "Transient receptor potential-gamma protein", "type": "recommended" }, { "name": "CG5996-PA", "type": "synonym" }, { "name": "TRPgamma", "type": "synonym" }, { "name": "Transient receptor potential cation channel gamma", "type": "synonym" }, { "name": "Trpgamma-PA", "type": "synonym" }, { "name": "transient receptor potential cation channel gamma, isoform A", "type": "synonym" }, { "name": "trpgamma", "type": "synonym" } ], "gene_names": [ { "name": "Trpgamma", "type": "recommended" }, { "name": "CG5996", "type": "synonym" }, { "name": "DmTRPgamma", "type": "synonym" }, { "name": "Dmel\\CG5996", "type": "synonym" }, { "name": "Dmel_CG5996", "type": "synonym" }, { "name": "TRPgamma", "type": "synonym" }, { "name": "Trp-gamma", "type": "synonym" }, { "name": "Trpgamma", "type": "synonym" }, { "name": "dTRPgamma", "type": "synonym" }, { "name": "dTRPg", "type": "synonym" }, { "name": "trp-gamma", "type": "synonym" }, { "name": "trpgamma", "type": "synonym" } ], "record_id": "Q9VJJ7-1", "evidence": [ { "id": "0060041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060041" } ] }, { "uniprot_canonical_ac": "Q7K4Y6-1", "uniprot_ac": "Q7K4Y6", "uniprot_id": "DAT_DROME", "refseq_ac": "NP_523763", "glycoprotein": "yes", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "Sodium-dependent dopamine transporter", "type": "recommended" }, { "name": "CG8380-PA", "type": "synonym" }, { "name": "DAT-PA", "type": "synonym" }, { "name": "Protein fumin", "type": "synonym" }, { "name": "dopamine transporter, isoform A", "type": "synonym" }, { "name": "dopamine transporter", "type": "synonym" }, { "name": "fumin", "type": "synonym" } ], "gene_names": [ { "name": "DAT", "type": "recommended" }, { "name": "CG8380", "type": "synonym" }, { "name": "DAT", "type": "synonym" }, { "name": "Dat", "type": "synonym" }, { "name": "DmDAT", "type": "synonym" }, { "name": "Dmel\\CG8380", "type": "synonym" }, { "name": "Dmel_CG8380", "type": "synonym" }, { "name": "Fumin", "type": "synonym" }, { "name": "dDAT", "type": "synonym" }, { "name": "dDat", "type": "synonym" }, { "name": "dat", "type": "synonym" }, { "name": "fmn", "type": "synonym" }, { "name": "fumin", "type": "synonym" } ], "record_id": "Q7K4Y6-1", "evidence": [ { "id": "0060041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060041" } ] }, { "uniprot_canonical_ac": "P15215-1", "uniprot_ac": "P15215", "uniprot_id": "LAMC1_DROME", "refseq_ac": "NP_001287009", "glycoprotein": "yes", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "Laminin subunit gamma-1", "type": "recommended" }, { "name": "CG3322-PB", "type": "synonym" }, { "name": "Laminin B2 chain", "type": "synonym" }, { "name": "LamininB2", "type": "synonym" }, { "name": "LanB2-PB", "type": "synonym" }, { "name": "anon-fast-evolving-2H3", "type": "synonym" }, { "name": "knodel", "type": "synonym" }, { "name": "laminin B2 subunit", "type": "synonym" }, { "name": "laminin B2, isoform B", "type": "synonym" }, { "name": "laminin gamma 1", "type": "synonym" }, { "name": "laminin gamma-chain", "type": "synonym" }, { "name": "laminin gamma1", "type": "synonym" }, { "name": "laminin gamma2", "type": "synonym" }, { "name": "lamininB", "type": "synonym" }, { "name": "lethal (3) 67BDb", "type": "synonym" } ], "gene_names": [ { "name": "LanB2", "type": "recommended" }, { "name": "CG3322", "type": "synonym" }, { "name": "CT11145", "type": "synonym" }, { "name": "DROLAMB2A", "type": "synonym" }, { "name": "Dmel\\CG3322", "type": "synonym" }, { "name": "Dmel_CG3322", "type": "synonym" }, { "name": "LAMB2A", "type": "synonym" }, { "name": "LAMC1", "type": "synonym" }, { "name": "LAMG1", "type": "synonym" }, { "name": "LM-B2/gamma", "type": "synonym" }, { "name": "LMG1", "type": "synonym" }, { "name": "Lam-B2", "type": "synonym" }, { "name": "LanB2", "type": "synonym" }, { "name": "Lmgamma1", "type": "synonym" }, { "name": "anon-EST:fe2H3", "type": "synonym" }, { "name": "gamma1", "type": "synonym" }, { "name": "gamma", "type": "synonym" }, { "name": "knod", "type": "synonym" }, { "name": "l(3)67BDb", "type": "synonym" }, { "name": "lamB2", "type": "synonym" }, { "name": "laminin", "type": "synonym" }, { "name": "lanB2", "type": "synonym" } ], "record_id": "P15215-1", "evidence": [ { "id": "0060041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060041" } ] }, { "uniprot_canonical_ac": "Q9VCC9-1", "uniprot_ac": "Q9VCC9", "uniprot_id": "Q9VCC9_DROME", "refseq_ac": "NP_477415", "glycoprotein": "yes", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "CG6147-PA", "type": "synonym" }, { "name": "TTuberous sclerosis complex 1", "type": "synonym" }, { "name": "Tsc1-PA", "type": "synonym" }, { "name": "Tsc1", "type": "synonym" }, { "name": "hamartin", "type": "synonym" }, { "name": "jolly green giant", "type": "synonym" }, { "name": "rocky", "type": "synonym" }, { "name": "tuberous sclerosis 1", "type": "synonym" }, { "name": "tuberous sclerosis complex 1", "type": "synonym" }, { "name": "tuberous sclerosis complex protein 1", "type": "synonym" } ], "gene_names": [ { "name": "Tsc1", "type": "recommended" }, { "name": "CG6147", "type": "synonym" }, { "name": "Dmel\\CG6147", "type": "synonym" }, { "name": "Dmel_CG6147", "type": "synonym" }, { "name": "TSC1", "type": "synonym" }, { "name": "TSC", "type": "synonym" }, { "name": "TsC1", "type": "synonym" }, { "name": "Tsc1", "type": "synonym" }, { "name": "Tsc", "type": "synonym" }, { "name": "dTSC-1", "type": "synonym" }, { "name": "dTSC1", "type": "synonym" }, { "name": "dTSC", "type": "synonym" }, { "name": "dTsc1", "type": "synonym" }, { "name": "dtsc1", "type": "synonym" }, { "name": "rocky", "type": "synonym" }, { "name": "tSC1", "type": "synonym" }, { "name": "tsc1", "type": "synonym" } ], "record_id": "Q9VCC9-1", "evidence": [ { "id": "0060041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060041" } ] }, { "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": "0060041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060041" } ] }, { "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": 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"CG8887", "type": "synonym" }, { "name": "Dmel\\CG8887", "type": "synonym" }, { "name": "KMT2H", "type": "synonym" }, { "name": "ash-1", "type": "synonym" }, { "name": "ash1", "type": "synonym" }, { "name": "ash", "type": "synonym" }, { "name": "dash", "type": "synonym" }, { "name": "l(3)76BDb", "type": "synonym" }, { "name": "l(3)SG29a", "type": "synonym" } ], "record_id": "Q9VW15-1", "evidence": [ { "id": "0060041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060041" } ] }, { "uniprot_canonical_ac": "Q9W0K2-1", "uniprot_ac": "Q9W0K2", "uniprot_id": "Q9W0K2_DROME", "refseq_ac": "NP_612080", "glycoprotein": "no", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "Tryptophan 5-hydroxylase 2", "type": "recommended" }, { "name": "1.14.16.4", "type": "synonym" }, { "name": "CG9122-PA", "type": "synonym" }, 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"name": "HS N-deacetylase/N-sulfotransferase", "type": "synonym" }, { "name": "Sulfateless", "type": "synonym" }, { "name": "diet-wingless", "type": "synonym" }, { "name": "sfl-PB", "type": "synonym" }, { "name": "sulfateless, isoform B", "type": "synonym" }, { "name": "sulfateless", "type": "synonym" } ], "gene_names": [ { "name": "sfl", "type": "recommended" }, { "name": "CG8339", "type": "synonym" }, { "name": "CT24567", "type": "synonym" }, { "name": "Dmel\\CG8339", "type": "synonym" }, { "name": "Dmel_CG8339", "type": "synonym" }, { "name": "NDST", "type": "synonym" }, { "name": "Ndst", "type": "synonym" }, { "name": "SFL", "type": "synonym" }, { "name": "Sfl", "type": "synonym" }, { "name": "dw", "type": "synonym" }, { "name": "l(3)03844", "type": "synonym" }, { "name": "lincRNA.S4253", "type": "synonym" }, { "name": "sfl", "type": "synonym" } ], "record_id": "Q9V3L1-1", "evidence": [ { "id": "0060041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060041" } ] }, { "uniprot_canonical_ac": "Q7KU24-1", "uniprot_ac": "Q7KU24", "uniprot_id": "CHD1_DROME", "refseq_ac": "NP_477197", "glycoprotein": "yes", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "ATP-dependent chromatin remodeler Chd1", "type": "recommended" }, { "name": "3.6.4.-", "type": "synonym" }, { "name": "CG3733-PA", "type": "synonym" }, { "name": "Chd-1", "type": "synonym" }, { "name": "Chd1-PA", "type": "synonym" }, { "name": "Chromo domain-containing protein 1", "type": "synonym" }, { "name": "Chromodomain-helicase-DNA-binding protein 1, isoform A", "type": "synonym" }, { "name": "Chromodomain-helicase-DNA-binding protein", "type": "synonym" }, { "name": "chromo-ATPase/helicase-DNA-binding domain", "type": "synonym" }, { "name": "chromo-ATPase/helicase-DNA-binding 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"lethal(2)43Bc", "type": "synonym" } ], "gene_names": [ { "name": "Dscam1", "type": "recommended" }, { "name": "43Bc", "type": "synonym" }, { "name": "CG17800", "type": "synonym" }, { "name": "CT39257", "type": "synonym" }, { "name": "DSCAM1", "type": "synonym" }, { "name": "DSCAM", "type": "synonym" }, { "name": "DScam", "type": "synonym" }, { "name": "DmDscam", "type": "synonym" }, { "name": "Dm_2R:13579", "type": "synonym" }, { "name": "Dm_2R:13612", "type": "synonym" }, { "name": "Dmel\\CG17800", "type": "synonym" }, { "name": "Dmel_CG17800", "type": "synonym" }, { "name": "DsCam", "type": "synonym" }, { "name": "Dscam-hv", "type": "synonym" }, { "name": "Dscam1", "type": "synonym" }, { "name": "Dscam", "type": "synonym" }, { "name": "Dsm", "type": "synonym" }, { "name": "Neu1", "type": "synonym" }, { "name": "dScam", "type": "synonym" }, { "name": "dscam1", "type": "synonym" }, { "name": "dscam", "type": "synonym" }, { "name": "l(2)05518", "type": "synonym" }, { "name": "l(2)43Bc", "type": "synonym" }, { "name": "p270", "type": "synonym" } ], "record_id": "Q0E9H9-1", "evidence": [ { "id": "0060041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060041" } ] }, { "uniprot_canonical_ac": "Q9W5E0-1", "uniprot_ac": "Q9W5E0", "uniprot_id": "SUV42_DROME", "refseq_ac": "NP_001245453", "glycoprotein": "yes", "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 Suv4-20", "type": "recommended" }, { "name": "2.1.1.361", "type": "synonym" }, { "name": "2.1.1.362", "type": "synonym" }, { "name": "CG13363-PB", "type": "synonym" }, { "name": "Hmt4-20-PB", "type": "synonym" }, { "name": "Su(var)4-20", "type": "synonym" }, { "name": "Suppressor of variegation 4-20", "type": "synonym" }, { "name": "Suv4-20", "type": "synonym" }, { "name": "histone 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"yes", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "Cofilin/actin-depolymerizing factor homolog", "type": "recommended" }, { "name": "ADFcofilin", "type": "synonym" }, { "name": "CG4254-PA", "type": "synonym" }, { "name": "Cofilin/actin depolymerizing factor-like", "type": "synonym" }, { "name": "DCofilin", "type": "synonym" }, { "name": "Protein D61", "type": "synonym" }, { "name": "Protein twinstar", "type": "synonym" }, { "name": "actin-depolymerizing factor", "type": "synonym" }, { "name": "cofilin", "type": "synonym" }, { "name": "no terminal filament", "type": "synonym" }, { "name": "tsr-PA", "type": "synonym" }, { "name": "twin star", "type": "synonym" }, { "name": "twinstar", "type": "synonym" } ], "gene_names": [ { "name": "tsr", "type": "recommended" }, { "name": "12/8", "type": "synonym" }, { "name": "ADF/cofilin", "type": "synonym" }, { "name": "ADF", "type": "synonym" }, { "name": "Adf", "type": "synonym" }, { "name": "CG4254", "type": "synonym" }, { "name": "Cadf", "type": "synonym" }, { "name": "Cfl", "type": "synonym" }, { "name": "Cofilin", "type": "synonym" }, { "name": "D-cof", "type": "synonym" }, { "name": "D61", "type": "synonym" }, { "name": "DmCFL", "type": "synonym" }, { "name": "Dmel\\CG4254", "type": "synonym" }, { "name": "T8", "type": "synonym" }, { "name": "Tsr", "type": "synonym" }, { "name": "Twinstar", "type": "synonym" }, { "name": "cfl", "type": "synonym" }, { "name": "cofilin/ADF", "type": "synonym" }, { "name": "cofilin/actin depolymerizing factor homolog", "type": "synonym" }, { "name": "cofilin", "type": "synonym" }, { "name": "l(2)03101", "type": "synonym" }, { "name": "l(2)k03101", "type": "synonym" }, { "name": "l(2)k05633", "type": "synonym" }, { "name": "l(2)k13409", "type": "synonym" }, { "name": "ntf", "type": "synonym" }, { "name": "tsr", "type": "synonym" } ], "record_id": "P45594-1", "evidence": [ { "id": "0060041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060041" } ] }, { "uniprot_canonical_ac": "Q8IP45-1", "uniprot_ac": "Q8IP45", "uniprot_id": "Q8IP45_DROME", "refseq_ac": "NP_723909", "glycoprotein": "no", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "CG42616-PF", "type": "synonym" }, { "name": "Cul3-PF", "type": "synonym" }, { "name": "Cullin 3, isoform F", "type": "synonym" }, { "name": "Cullin3", "type": "synonym" }, { "name": "cullin 3, isoform F", "type": "synonym" }, { "name": "cullin 3", "type": "synonym" }, { "name": "cullin-3", "type": "synonym" }, { "name": "guftagu", "type": "synonym" }, { "name": "medusa", "type": "synonym" } ], "gene_names": [ { "name": "Cul3", "type": "recommended" }, { "name": "BG:DS07851.2", "type": "synonym" }, { "name": "CG11861", "type": "synonym" }, { "name": "CG31829", "type": "synonym" }, { "name": "CG42616", "type": "synonym" }, { "name": "CUL-3", "type": "synonym" }, { "name": "CUL3", "type": "synonym" }, { "name": "Cul-3", "type": "synonym" }, { "name": "Cul3", "type": "synonym" }, { "name": "Cullin3", "type": "synonym" }, { "name": "DMcul-3", "type": "synonym" }, { "name": "Dmel\\CG42616", "type": "synonym" }, { "name": "Dmel_CG42616", "type": "synonym" }, { "name": "br34", "type": "synonym" }, { "name": "cul-3", "type": "synonym" }, { "name": "cul3", "type": "synonym" }, { "name": "dCul-3", "type": "synonym" }, { "name": "dCul3", "type": "synonym" }, { "name": "gft/dCul-3", "type": "synonym" }, { "name": "gft", "type": "synonym" }, { "name": "guftagu", "type": "synonym" }, { "name": "l(2)06430", "type": "synonym" }, { "name": "l(2)35Cd", "type": "synonym" }, { "name": "l(2)br34", "type": "synonym" }, { "name": "l35Cd", "type": "synonym" }, { "name": "mds", "type": "synonym" } ], "record_id": "Q8IP45-1", "evidence": [ { "id": "0060041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060041" } ] }, { "uniprot_canonical_ac": "Q9VXV6-1", "uniprot_ac": "Q9VXV6", "uniprot_id": "Q9VXV6_DROME", "refseq_ac": "NP_001259572", "glycoprotein": "no", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "Secretory carrier-associated membrane protein", "type": "recommended" }, { "name": "CG9195-PC", "type": "synonym" }, { "name": "Scamp-PC", "type": "synonym" }, { "name": "Secretory carrier membrane protein", "type": "synonym" }, { "name": "anon-fast-evolving-1F7", "type": "synonym" }, { "name": "scamp, isoform C", "type": "synonym" } ], "gene_names": [ { "name": "Scamp", "type": "recommended" }, { "name": "BcDNA:GM04934", "type": "synonym" }, { "name": "CG9195", "type": "synonym" }, { "name": "Dmel\\CG9195", "type": "synonym" }, { "name": "Dmel_CG9195", "type": "synonym" }, { "name": "SCAMP", "type": "synonym" }, { "name": "Scamp", "type": "synonym" }, { "name": "Sc", "type": "synonym" }, { "name": "anon-EST:fe1F7", "type": "synonym" }, { "name": "dmSCAMP", "type": "synonym" }, { "name": "dmSC", "type": "synonym" } ], "record_id": "Q9VXV6-1", "evidence": [ { "id": "0060041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060041" } ] }, { "uniprot_canonical_ac": "A0A0B4KFU6-1", "uniprot_ac": "A0A0B4KFU6", "uniprot_id": "A0A0B4KFU6_DROME", "refseq_ac": "NP_001262373", "glycoprotein": "yes", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "5-HT2B-PE", "type": "synonym" }, { "name": "5-hydroxytryptamine (Serotonin) receptor 2B, isoform E", "type": "synonym" }, { "name": "5-hydroxytryptamine (serotonin) receptor 2B, isoform E", "type": "synonym" }, { "name": "CG42796-PE", "type": "synonym" } ], "gene_names": [ { "name": "5-HT2B", "type": "recommended" }, { "name": "5-HT-2b", "type": "synonym" }, { "name": "5-HT2B", "type": "synonym" }, { "name": "5-HT[[2B]]", "type": "synonym" }, { "name": "5HT1b", "type": "synonym" }, { "name": "5HT2B", "type": "synonym" }, { "name": "5HT2b", "type": "synonym" }, { "name": "CG42796", "type": "synonym" }, { "name": "CG7994", "type": "synonym" }, { "name": "CG8007", "type": "synonym" }, { "name": "Dm5-HT2B", "type": "synonym" }, { "name": "Dm5-HT[[2B]]", "type": "synonym" }, { "name": "Dm5-ht2b", "type": "synonym" }, { "name": "Dmel\\CG42796", "type": "synonym" }, { "name": "Dmel_CG42796", "type": "synonym" }, { "name": "anon-WO0170980.94", "type": "synonym" }, { "name": "anon-WO0170980.95", "type": "synonym" }, { "name": "anon-WO0170980.97", "type": "synonym" }, { "name": "anon-WO0170980.98", "type": "synonym" }, { "name": "d5-HT2B", "type": "synonym" } ], "record_id": "A0A0B4KFU6-1", "evidence": [ { "id": "0060041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060041" } ] }, { "uniprot_canonical_ac": "Q7PLI0-1", "uniprot_ac": "Q7PLI0", "uniprot_id": "Q7PLI0_DROME", "refseq_ac": "NP_001036444", "glycoprotein": "no", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "Adherens-junction-protein-p120", "type": "synonym" }, { "name": "CG17484-PA", "type": "synonym" }, { "name": "P120 catenin", "type": "synonym" }, { "name": "P120-Catenin", "type": "synonym" }, { "name": "adherens junction protein p120", "type": "synonym" }, { "name": "p120 catenin", "type": "synonym" }, { "name": "p120catenin", "type": "synonym" }, { "name": "p120ctn-PA", "type": "synonym" } ], "gene_names": [ { "name": "p120ctn", "type": "recommended" }, { "name": "CG17484", "type": "synonym" }, { "name": "Dmel\\CG17484", "type": "synonym" }, { "name": "Dmel_CG17484", "type": "synonym" }, { "name": "Dp120[ctn]", "type": "synonym" }, { "name": "Dp120ctn", "type": "synonym" }, { "name": "P120-catenin", "type": "synonym" }, { "name": "P120ctn", "type": "synonym" }, { "name": "P120", "type": "synonym" }, { "name": "dP120ctn", "type": "synonym" }, { "name": "dp120ctn", "type": "synonym" }, { "name": "p120[ctn]", "type": "synonym" }, { "name": "p120ctn", "type": "synonym" }, { "name": "p120", "type": "synonym" } ], "record_id": "Q7PLI0-1", "evidence": [ { "id": "0060041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060041" } ] }, { "uniprot_canonical_ac": "Q9UNU6-1", "uniprot_ac": "Q9UNU6", "uniprot_id": "CP8B1_HUMAN", "refseq_ac": "NP_004382", "glycoprotein": "no", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "7-alpha-hydroxycholest-4-en-3-one 12-alpha-hydroxylase", "type": "recommended" }, { "name": "1.14.14.139", "type": "synonym" }, { "name": "7 alpha-hydroxy-4-cholesten-3-one 12-alpha-hydroxylase", "type": "synonym" }, { "name": "7-alpha-hydroxy-4-cholesten-3-one 12-alpha-hydroxylase", "type": "synonym" }, { "name": "7-alpha-hydroxycholest-4-en-3-one 12-alpha-hydroxylase", "type": "synonym" }, { "name": "CYPVIIIB1", "type": "synonym" }, { "name": "Cytochrome P450 8B1", "type": "synonym" }, { "name": "Sterol 12-alpha-hydroxylase", "type": "synonym" }, { "name": "cytochrome P450 8B1", "type": "synonym" }, { "name": "cytochrome P450, family 8, subfamily B, polypeptide 1", "type": "synonym" }, { "name": "cytochrome P450, subfamily VIIIB (sterol 12-alpha-hydroxylase), polypeptide 1", "type": "synonym" }, { "name": "sterol 12-alpha-hydroxylase", "type": "synonym" } ], "gene_names": [ { "name": "CYP8B1", "type": "recommended" }, { "name": "CP8B", "type": 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7-alpha hydroxylase", "type": "synonym" }, { "name": "Oxysterol 7-alpha-hydroxylase", "type": "synonym" }, { "name": "cytochrome P450 7B1 isoform 1", "type": "synonym" }, { "name": "cytochrome P450 7B1", "type": "synonym" }, { "name": "cytochrome P450, subfamily VIIB (oxysterol 7 alpha-hydroxylase), polypeptide 1", "type": "synonym" }, { "name": "oxysterol 7-alpha-hydroxylase", "type": "synonym" } ], "gene_names": [ { "name": "CYP7B1", "type": "recommended" }, { "name": "CBAS3", "type": "synonym" }, { "name": "CP7B", "type": "synonym" }, { "name": "CYP7B1", "type": "synonym" }, { "name": "SPG5A", "type": "synonym" } ], "record_id": "O75881-1", "evidence": [ { "id": "0060041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060041" } ] }, { "uniprot_canonical_ac": "P11712-1", "uniprot_ac": "P11712", "uniprot_id": "CP2C9_HUMAN", "refseq_ac": "NP_000762", "glycoprotein": "yes", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "Cytochrome P450 2C9", "type": "recommended" }, { "name": "(R)-limonene 6-monooxygenase", "type": "synonym" }, { "name": "(S)-limonene 6-monooxygenase", "type": "synonym" }, { "name": "(S)-limonene 7-monooxygenase", "type": "synonym" }, { "name": "1.14.14.1", "type": "synonym" }, { "name": "1.14.14.51", "type": "synonym" }, { "name": "1.14.14.52", "type": "synonym" }, { "name": "1.14.14.53", "type": "synonym" }, { "name": "CYPIIC9", "type": "synonym" }, { "name": "Cholesterol 25-hydroxylase", "type": "synonym" }, { "name": "Cytochrome P-450MP", "type": "synonym" }, { "name": "Cytochrome P450 MP-4", "type": "synonym" }, { "name": "Cytochrome P450 MP-8", "type": "synonym" }, { "name": "Cytochrome P450 PB-1", "type": "synonym" }, { "name": "S-mephenytoin 4-hydroxylase", "type": "synonym" }, { "name": "cytochrome P-450 S-mephenytoin 4-hydroxylase", "type": "synonym" }, { "name": "cytochrome P-450MP", "type": "synonym" }, { "name": "cytochrome P450 2C9", "type": "synonym" }, { "name": "cytochrome P450 PB-1", "type": "synonym" }, { "name": "cytochrome P450, family 2, subfamily C, polypeptide 9", "type": "synonym" }, { "name": "flavoprotein-linked monooxygenase", "type": "synonym" }, { "name": "microsomal monooxygenase", "type": "synonym" }, { "name": "xenobiotic monooxygenase", "type": "synonym" } ], "gene_names": [ { "name": "CYP2C9", "type": "recommended" }, { "name": "CPC9", "type": "synonym" }, { "name": "CYP2C10", "type": "synonym" }, { "name": "CYP2C9", "type": "synonym" }, { "name": "CYP2C", "type": "synonym" }, { "name": "CYPIIC9", "type": "synonym" }, { "name": "P450-2C9", "type": "synonym" }, { "name": "P450IIC9", "type": "synonym" } ], "record_id": "P11712-1", "evidence": [ { "id": "0060041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060041" } ] }, { "uniprot_canonical_ac": "O75718-1", "uniprot_ac": "O75718", "uniprot_id": "CRTAP_HUMAN", "refseq_ac": "NP_006362", "glycoprotein": "yes", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "Cartilage-associated protein", "type": "recommended" }, { "name": "cartilage-associated protein isoform 1 precursor", "type": "synonym" }, { "name": "leprecan-like 3", "type": "synonym" }, { "name": "prolyl 3-hydroxylase family member 5 (non-enzymatic)", "type": "synonym" } ], "gene_names": [ { "name": "CRTAP", "type": "recommended" }, { "name": "CASP", "type": "synonym" }, { "name": "CRTAP", "type": "synonym" }, { "name": "LEPREL3", "type": "synonym" }, { "name": "OI7", "type": "synonym" }, { "name": "P3H5", "type": "synonym" } ], "record_id": "O75718-1", "evidence": [ { "id": "0060041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060041" } ] }, { "uniprot_canonical_ac": "P53634-1", "uniprot_ac": "P53634", 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peptidase 1", "type": "synonym" }, { "name": "dipeptidyl transferase", "type": "synonym" }, { "name": "dipeptidyl-peptidase I", "type": "synonym" } ], "gene_names": [ { "name": "CTSC", "type": "recommended" }, { "name": "CPPI", "type": "synonym" }, { "name": "CTSC", "type": "synonym" }, { "name": "DPP-I", "type": "synonym" }, { "name": "DPP1", "type": "synonym" }, { "name": "DPPI", "type": "synonym" }, { "name": "HMS", "type": "synonym" }, { "name": "JPD", "type": "synonym" }, { "name": "JP", "type": "synonym" }, { "name": "PALS", "type": "synonym" }, { "name": "PDON1", "type": "synonym" }, { "name": "PLS", "type": "synonym" } ], "record_id": "P53634-1", "evidence": [ { "id": "0060041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060041" } ] }, { "uniprot_canonical_ac": "Q92765-1", "uniprot_ac": "Q92765", "uniprot_id": "SFRP3_HUMAN", "refseq_ac": "NP_001454", "glycoprotein": "yes", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "Secreted frizzled-related protein 3", "type": "recommended" }, { "name": "Frezzled", "type": "synonym" }, { "name": "Fritz", "type": "synonym" }, { "name": "Frizzled-related protein 1", "type": "synonym" }, { "name": "FrzB-1", "type": "synonym" }, { "name": "frezzled", "type": "synonym" }, { "name": "frizzled homolog-related", "type": "synonym" }, { "name": "frizzled-related protein 1", "type": "synonym" }, { "name": "sFRP-3", "type": "synonym" }, { "name": "secreted frizzled-related protein 3 precursor", "type": "synonym" }, { "name": "secreted frizzled-related protein 3", "type": "synonym" } ], "gene_names": [ { "name": "FRZB", "type": "recommended" }, { "name": "FIZ", "type": "synonym" }, { "name": "FRE", "type": "synonym" }, { "name": "FRITZ", "type": "synonym" }, { "name": "FRP-3", "type": "synonym" }, { "name": "FRP", "type": "synonym" }, { "name": "FRZB-1", "type": "synonym" }, { "name": "FRZB-PEN", "type": "synonym" }, { "name": "FRZB1", "type": "synonym" }, { "name": "FRZB", "type": "synonym" }, { "name": "FZRB", "type": "synonym" }, { "name": "OS1", "type": "synonym" }, { "name": "SFRP3", "type": "synonym" }, { "name": "SRFP3", "type": "synonym" }, { "name": "hFIZ", "type": "synonym" } ], "record_id": "Q92765-1", "evidence": [ { "id": "0060041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060041" } ] }, { "uniprot_canonical_ac": "O75636-1", "uniprot_ac": "O75636", "uniprot_id": "FCN3_HUMAN", "refseq_ac": "NP_003656", "glycoprotein": "yes", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "Ficolin-3", "type": "recommended" }, { "name": "Collagen/fibrinogen domain-containing lectin 3 p35", "type": "synonym" }, { "name": "Collagen/fibrinogen domain-containing protein 3", "type": "synonym" }, { "name": "H-ficolin", "type": "synonym" }, { "name": "Hakata antigen", "type": "synonym" }, { "name": "collagen/fibrinogen domain-containing lectin 3 p35", "type": "synonym" }, { "name": "collagen/fibrinogen domain-containing protein 3", "type": "synonym" }, { "name": "ficolin (collagen/fibrinogen domain containing) 3 (Hakata antigen)", "type": "synonym" }, { "name": "ficolin-3 isoform 1 precursor", "type": "synonym" } ], "gene_names": [ { "name": "FCN3", "type": "recommended" }, { "name": "FCN3", "type": "synonym" }, { "name": "FCNH", "type": "synonym" }, { "name": "HAKA1", "type": "synonym" } ], "record_id": "O75636-1", "evidence": [ { "id": "0060041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060041" } ] }, { "uniprot_canonical_ac": "O43781-1", "uniprot_ac": "O43781", "uniprot_id": "DYRK3_HUMAN", "refseq_ac": "NP_001004023", "glycoprotein": "no", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "Dual specificity tyrosine-phosphorylation-regulated kinase 3", "type": "recommended" }, { "name": "2.7.12.1", "type": "synonym" }, { "name": "REDK", "type": "synonym" }, { "name": "Regulatory erythroid kinase", "type": "synonym" }, { "name": "dual specificity tyrosine-(Y)-phosphorylation regulated kinase 3", "type": "synonym" }, { "name": "dual specificity tyrosine-phosphorylation-regulated kinase 3 isoform b", "type": "synonym" }, { "name": "dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 5", "type": "synonym" }, { "name": "protein kinase Dyrk3", "type": "synonym" }, { "name": "regulatory erythroid kinase", "type": "synonym" } ], "gene_names": [ { "name": "DYRK3", "type": "recommended" }, { "name": "DYRK3", "type": "synonym" }, { "name": "DYRK5", "type": "synonym" }, { "name": "REDK", "type": "synonym" }, { "name": "RED", "type": "synonym" }, { "name": "hYAK3-2", "type": "synonym" } ], 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"synonym" }, { "name": "cholesterol 7-alpha-monooxygenase", "type": "synonym" }, { "name": "cholesterol 7alpha-hydroxylase", "type": "synonym" }, { "name": "cytochrome P450 7A1", "type": "synonym" }, { "name": "cytochrome P450, family 7, subfamily A, polypeptide 1", "type": "synonym" }, { "name": "cytochrome P450, subfamily VIIA polypeptide 1", "type": "synonym" } ], "gene_names": [ { "name": "CYP7A1", "type": "recommended" }, { "name": "CP7A", "type": "synonym" }, { "name": "CYP7A1", "type": "synonym" }, { "name": "CYP7", "type": "synonym" }, { "name": "CYPVII", "type": "synonym" } ], "record_id": "P22680-1", "evidence": [ { "id": "0060041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060041" } ] }, { "uniprot_canonical_ac": "O75618-1", "uniprot_ac": "O75618", "uniprot_id": "DEDD_HUMAN", "refseq_ac": "NP_001034800", "glycoprotein": "yes", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", 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"Sra-1", "type": "synonym" }, { "name": "cytoplasmic FMR1-interacting protein 1 isoform b", "type": "synonym" }, { "name": "cytoplasmic FMRP interacting protein 1", "type": "synonym" }, { "name": "p140sra-1", "type": "synonym" }, { "name": "selective hybridizing clone", "type": "synonym" }, { "name": "specifically Rac1-associated protein 1", "type": "synonym" } ], "gene_names": [ { "name": "CYFIP1", "type": "recommended" }, { "name": "CYFIP1", "type": "synonym" }, { "name": "KIAA0068", "type": "synonym" }, { "name": "P140SRA-1", "type": "synonym" }, { "name": "SHYC", "type": "synonym" }, { "name": "SRA-1", "type": "synonym" }, { "name": "SRA1", "type": "synonym" } ], "record_id": "Q7L576-1", "evidence": [ { "id": "0060041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060041" } ] }, { "uniprot_canonical_ac": "P23560-1", "uniprot_ac": "P23560", "uniprot_id": "BDNF_HUMAN", "refseq_ac": "NP_001137277", "glycoprotein": "yes", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "Neurotrophic factor BDNF precursor form", "type": "recommended" }, { "name": "Abrineurin", "type": "synonym" }, { "name": "Brain-derived neurotrophic factor", "type": "synonym" }, { "name": "abrineurin", "type": "synonym" }, { "name": "neurotrophic factor BDNF precursor form isoform a preproprotein", "type": "synonym" }, { "name": "neurotrophic factor BDNF precursor form", "type": "synonym" }, { "name": "neurotrophin", "type": "synonym" }, { "name": "proBDNF", "type": "synonym" } ], "gene_names": [ { "name": "BDNF", "type": "recommended" }, { "name": "ANON2", "type": "synonym" }, { "name": "BDNF", "type": "synonym" }, { "name": "BULN2", "type": "synonym" } ], "record_id": "P23560-1", "evidence": [ { "id": "0060041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060041" } ] }, { "uniprot_canonical_ac": 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plakophilin-related ARM-repeat protein", "type": "synonym" }, { "name": "Neurojungin", "type": "synonym" }, { "name": "T-cell delta-catenin", "type": "synonym" }, { "name": "catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein)", "type": "synonym" }, { "name": "catenin delta-2 isoform 3", "type": "synonym" }, { "name": "neurojungin", "type": "synonym" } ], "gene_names": [ { "name": "CTNND2", "type": "recommended" }, { "name": "CTNND2", "type": "synonym" }, { "name": "GT24", "type": "synonym" }, { "name": "NPRAP", "type": "synonym" } ], "record_id": "Q9UQB3-1", "evidence": [ { "id": "0060041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060041" } ] }, { "uniprot_canonical_ac": "Q99569-1", "uniprot_ac": "Q99569", "uniprot_id": "PKP4_HUMAN", "refseq_ac": "NP_001005476", "glycoprotein": "yes", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "Plakophilin-4", "type": "recommended" }, { "name": "catenin 4", "type": "synonym" }, { "name": "p0071", "type": "synonym" }, { "name": "plakophilin-4 isoform b", "type": "synonym" } ], "gene_names": [ { "name": "PKP4", "type": "recommended" }, { "name": "PKP4", "type": "synonym" }, { "name": "p0071", "type": "synonym" } ], "record_id": "Q99569-1", "evidence": [ { "id": "0060041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060041" } ] }, { "uniprot_canonical_ac": "P28335-1", "uniprot_ac": "P28335", "uniprot_id": "5HT2C_HUMAN", "refseq_ac": "NP_000859", "glycoprotein": "yes", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "5-hydroxytryptamine receptor 2C", "type": "recommended" }, { "name": "5-HT-1C", "type": "synonym" }, { "name": "5-HT-2C", "type": "synonym" }, { "name": "5-HT1C", "type": "synonym" }, { "name": "5-HT2C", "type": "synonym" }, { "name": "5-HTR2C", "type": "synonym" }, { "name": "5-hydroxytryptamine (serotonin) receptor 2C, G protein-coupled", "type": "synonym" }, { "name": "5-hydroxytryptamine receptor 1C", "type": "synonym" }, { "name": "5-hydroxytryptamine receptor 2C isoform a precursor", "type": "synonym" }, { "name": "Serotonin receptor 2C", "type": "synonym" }, { "name": "serotonin 5-HT-1C receptor", "type": "synonym" }, { "name": "serotonin 5-HT-2C receptor", "type": "synonym" } ], "gene_names": [ { "name": "HTR2C", "type": "recommended" }, { "name": "5-HT1C", "type": "synonym" }, { "name": "5-HT2C", "type": "synonym" }, { "name": "5-HTR2C", "type": "synonym" }, { "name": "5HTR2C", "type": "synonym" }, { "name": "HTR1C", "type": "synonym" }, { "name": "HTR2C", "type": "synonym" } ], "record_id": "P28335-1", "evidence": [ { "id": "0060041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060041" } ] }, { 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"uniprot_canonical_ac": "Q9Y446-1", "uniprot_ac": "Q9Y446", "uniprot_id": "PKP3_HUMAN", "refseq_ac": "NP_001289958", "glycoprotein": "yes", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "Plakophilin-3", "type": "recommended" }, { "name": "plakophilin 3b", "type": "synonym" }, { "name": "plakophilin-3 isoform PKP3b", "type": "synonym" } ], "gene_names": [ { "name": "PKP3", "type": "recommended" }, { "name": "PKP3", "type": "synonym" } ], "record_id": "Q9Y446-1", "evidence": [ { "id": "0060041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060041" } ] }, { "uniprot_canonical_ac": "P23528-1", "uniprot_ac": "P23528", "uniprot_id": "COF1_HUMAN", "refseq_ac": "NP_005498", "glycoprotein": "yes", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "Cofilin-1", "type": "recommended" }, { "name": "18 kDa phosphoprotein", "type": "synonym" }, { "name": "Cofilin, non-muscle isoform", "type": "synonym" }, { "name": "cofilin 1 (non-muscle)", "type": "synonym" }, { "name": "cofilin-1", "type": "synonym" }, { "name": "epididymis secretory protein Li 15", "type": "synonym" }, { "name": "p18", "type": "synonym" } ], "gene_names": [ { "name": "CFL1", "type": "recommended" }, { "name": "CFL1", "type": "synonym" }, { "name": "CFL", "type": "synonym" }, { "name": "HEL-S-15", "type": "synonym" }, { "name": "cofilin", "type": "synonym" } ], "record_id": "P23528-1", "evidence": [ { "id": "0060041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060041" } ] }, { "uniprot_canonical_ac": "Q8IZQ1-1", "uniprot_ac": "Q8IZQ1", "uniprot_id": "WDFY3_HUMAN", "refseq_ac": "NP_055806", "glycoprotein": "yes", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", 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"evidence": [ { "id": "0060041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060041" } ] }, { "uniprot_canonical_ac": "Q9BWG4-1", "uniprot_ac": "Q9BWG4", "uniprot_id": "SSBP4_HUMAN", "refseq_ac": "NP_001009998", "glycoprotein": "yes", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "Single-stranded DNA-binding protein 4", "type": "recommended" }, { "name": "single-stranded DNA-binding protein 4 isoform b", "type": "synonym" } ], "gene_names": [ { "name": "SSBP4", "type": "recommended" }, { "name": "SSBP4", "type": "synonym" } ], "record_id": "Q9BWG4-1", "evidence": [ { "id": "0060041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060041" } ] }, { "uniprot_canonical_ac": "Q9UL62-1", "uniprot_ac": "Q9UL62", "uniprot_id": "TRPC5_HUMAN", "refseq_ac": "NP_036603", "glycoprotein": "yes", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "Short transient receptor potential channel 5", "type": "recommended" }, { "name": "TRP-5", "type": "synonym" }, { "name": "Transient receptor protein 5", "type": "synonym" }, { "name": "TrpC5", "type": "synonym" }, { "name": "hTRP-5", "type": "synonym" }, { "name": "hTRP5", "type": "synonym" }, { "name": "protein phosphatase 1, regulatory subunit 159", "type": "synonym" }, { "name": "short transient receptor potential channel 5", "type": "synonym" }, { "name": "transient receptor potential channel 5", "type": "synonym" }, { "name": "transient receptor protein 5", "type": "synonym" } ], "gene_names": [ { "name": "TRPC5", "type": "recommended" }, { "name": "PPP1R159", "type": "synonym" }, { "name": "TRP5", "type": "synonym" }, { "name": "TRPC5", "type": "synonym" } ], "record_id": "Q9UL62-1", "evidence": [ { "id": "0060041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060041" } ] }, { "uniprot_canonical_ac": "Q92581-2", "uniprot_ac": "Q92581", "uniprot_id": "SL9A6_HUMAN", "refseq_ac": "NP_001036002", "glycoprotein": "yes", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "Sodium/hydrogen exchanger 6", "type": "recommended" }, { "name": "NHE-6", "type": "synonym" }, { "name": "Na(+)/H(+) exchanger 6", "type": "synonym" }, { "name": "Solute carrier family 9 member 6", "type": "synonym" }, { "name": "sodium/hydrogen exchanger 6 isoform a precursor", "type": "synonym" }, { "name": "solute carrier family 9 (sodium/hydrogen exchanger), member 6", "type": "synonym" }, { "name": "solute carrier family 9, subfamily A (NHE6, cation proton antiporter 6), member 6", "type": "synonym" } ], "gene_names": [ { "name": "SLC9A6", "type": "recommended" }, { "name": "KIAA0267", "type": "synonym" }, { "name": "MRSA", "type": "synonym" }, { "name": "MRXSCH", "type": "synonym" }, { "name": "NDPACX", "type": "synonym" }, { "name": "NHE6", "type": "synonym" }, { "name": "SLC9A6", "type": "synonym" } ], "record_id": "Q92581-2", "evidence": [ { "id": "0060041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060041" } ] }, { "uniprot_canonical_ac": "Q6N043-1", "uniprot_ac": "Q6N043", "uniprot_id": "Z280D_HUMAN", "refseq_ac": "NP_001002843", "glycoprotein": "yes", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "Zinc finger protein 280D", "type": "recommended" }, { "name": "Suppressor of hairy wing homolog 4", "type": "synonym" }, { "name": "Zinc finger protein 634", "type": "synonym" }, { "name": "suppressor of hairy wing homolog 4", "type": "synonym" }, { "name": "zinc finger protein 280D isoform 2", 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subunit gamma", "type": "synonym" }, { "name": "Laminin-10 subunit gamma", "type": "synonym" }, { "name": "Laminin-11 subunit gamma", "type": "synonym" }, { "name": "Laminin-2 subunit gamma", "type": "synonym" }, { "name": "Laminin-3 subunit gamma", "type": "synonym" }, { "name": "Laminin-4 subunit gamma", "type": "synonym" }, { "name": "Laminin-6 subunit gamma", "type": "synonym" }, { "name": "Laminin-7 subunit gamma", "type": "synonym" }, { "name": "Laminin-8 subunit gamma", "type": "synonym" }, { "name": "Laminin-9 subunit gamma", "type": "synonym" }, { "name": "S-LAM gamma", "type": "synonym" }, { "name": "S-laminin subunit gamma", "type": "synonym" }, { "name": "laminin B2 chain", "type": "synonym" }, { "name": "laminin subunit gamma-1 precursor", "type": "synonym" }, { "name": "laminin, gamma 1 (formerly LAMB2)", "type": "synonym" }, { "name": "laminin-10 subunit gamma", "type": "synonym" }, { "name": "laminin-11 subunit gamma", "type": "synonym" }, { "name": "laminin-2 subunit gamma", "type": "synonym" }, { "name": "laminin-3 subunit gamma", "type": "synonym" }, { "name": "laminin-4 subunit gamma", "type": "synonym" }, { "name": "laminin-6 subunit gamma", "type": "synonym" }, { "name": "laminin-7 subunit gamma", "type": "synonym" }, { "name": "laminin-8 subunit gamma", "type": "synonym" }, { "name": "laminin-9 subunit gamma", "type": "synonym" } ], "gene_names": [ { "name": "LAMC1", "type": "recommended" }, { "name": "LAMB2", "type": "synonym" }, { "name": "LAMC1", "type": "synonym" } ], "record_id": "P11047-1", "evidence": [ { "id": "0060041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060041" } ] }, { "uniprot_canonical_ac": "Q00013-1", "uniprot_ac": "Q00013", "uniprot_id": "EM55_HUMAN", "refseq_ac": "NP_001159932", "glycoprotein": "yes", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "55 kDa erythrocyte membrane protein", "type": "recommended" }, { "name": "55 kDa erythrocyte membrane protein isoform 2", "type": "synonym" }, { "name": "55 kDa erythrocyte membrane protein", "type": "synonym" }, { "name": "Membrane protein, palmitoylated 1", "type": "synonym" }, { "name": "aging-associated gene 12", "type": "synonym" }, { "name": "erythrocyte membrane protein p55", "type": "synonym" }, { "name": "membrane palmitoylated protein 1", "type": "synonym" }, { "name": "membrane protein, palmitoylated 1, 55kDa", "type": "synonym" }, { "name": "migration-related gene 1", "type": "synonym" }, { "name": "p55", "type": "synonym" }, { "name": "palmitoylated erythrocyte membrane protein", "type": "synonym" } ], "gene_names": [ { "name": "MPP1", "type": "recommended" }, { "name": "AAG12", "type": "synonym" }, { "name": "DXS552E", "type": "synonym" }, { "name": "EMP55", "type": "synonym" }, { "name": "MPP1", "type": "synonym" }, { "name": "MRG1", "type": "synonym" }, { "name": "PEMP", "type": "synonym" } ], "record_id": "Q00013-1", "evidence": [ { "id": "0060041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060041" } ] }, { "uniprot_canonical_ac": "Q9P2S2-1", "uniprot_ac": "Q9P2S2", "uniprot_id": "NRX2A_HUMAN", "refseq_ac": "NP_055895", "glycoprotein": "yes", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "Neurexin-2", "type": "recommended" }, { "name": "Neurexin II-alpha", "type": "synonym" }, { "name": "Neurexin-2-alpha", "type": "synonym" }, { "name": "neurexin II", "type": "synonym" }, { "name": "neurexin-2-beta isoform alpha-1 precursor", "type": "synonym" } ], "gene_names": [ { "name": "NRXN2", "type": "recommended" }, { "name": "KIAA0921", "type": "synonym" }, { "name": "NRXN2", "type": "synonym" } ], "record_id": "Q9P2S2-1", "evidence": [ { "id": "0060041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060041" } ] }, { "uniprot_canonical_ac": "Q06787-1", "uniprot_ac": "Q06787", "uniprot_id": "FMR1_HUMAN", "refseq_ac": "NP_001172004", "glycoprotein": "yes", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "Fragile X messenger ribonucleoprotein 1", "type": "recommended" }, { "name": "FMRP translational regulator 1", "type": "synonym" }, { "name": "FMRP", "type": "synonym" }, { "name": "Fragile X messenger ribonucleoprotein", "type": "synonym" }, { "name": "Protein FMR-1", "type": "synonym" }, { "name": "fragile X messenger ribonucleoprotein 1 isoform ISO6", "type": "synonym" }, { "name": "synaptic functional regulator FMR1", "type": "synonym" } ], "gene_names": [ { "name": "FMR1", "type": "recommended" }, { "name": "FMR1", "type": "synonym" }, { "name": "FMRP", "type": "synonym" }, { "name": "FRAXA", "type": 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1", "type": "synonym" }, { "name": "regulating synaptic membrane exocytosis protein 1 isoform 2", "type": "synonym" } ], "gene_names": [ { "name": "RIMS1", "type": "recommended" }, { "name": "CORD7", "type": "synonym" }, { "name": "KIAA0340", "type": "synonym" }, { "name": "Nbla00761", "type": "synonym" }, { "name": "RAB3IP2", "type": "synonym" }, { "name": "RIM1", "type": "synonym" }, { "name": "RIMS1", "type": "synonym" }, { "name": "RIM", "type": "synonym" } ], "record_id": "Q86UR5-1", "evidence": [ { "id": "0060041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060041" } ] }, { "uniprot_canonical_ac": "P81877-1", "uniprot_ac": "P81877", "uniprot_id": "SSBP2_HUMAN", "refseq_ac": "NP_001243661", "glycoprotein": "yes", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "Single-stranded DNA-binding protein 2", "type": "recommended" }, { "name": "Sequence-specific single-stranded-DNA-binding protein 2", "type": "synonym" }, { "name": "sequence-specific single-stranded-DNA-binding protein 2", "type": "synonym" }, { "name": "single-stranded DNA-binding protein 2 isoform 1", "type": "synonym" } ], "gene_names": [ { "name": "SSBP2", "type": "recommended" }, { "name": "HSPC116", "type": "synonym" }, { "name": "SOSS-B2", "type": "synonym" }, { "name": "SSBP2", "type": "synonym" }, { "name": "SSDP2", "type": "synonym" } ], "record_id": "P81877-1", "evidence": [ { "id": "0060041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060041" } ] }, { "uniprot_canonical_ac": "P29375-1", "uniprot_ac": "P29375", "uniprot_id": "KDM5A_HUMAN", "refseq_ac": "NP_001036068", "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 5A", "type": "recommended" }, { "name": "1.14.11.67", "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": "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/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": "NEDEHC", "type": "synonym" }, { "name": "RBBP-2", "type": "synonym" }, { "name": "RBBP2", "type": "synonym" }, { "name": "RBP2", "type": "synonym" } ], "record_id": "P29375-1", "evidence": [ { "id": "0060041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060041" } ] }, { "uniprot_canonical_ac": "Q9UQ26-6", "uniprot_ac": "Q9UQ26", "uniprot_id": "RIMS2_HUMAN", "refseq_ac": "NP_001093587", "glycoprotein": "yes", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "Regulating synaptic membrane exocytosis protein 2", "type": "recommended" }, { "name": "RAB3 interacting protein 3", "type": "synonym" }, { "name": "RIM 2", "type": "synonym" }, { "name": "Rab-3-interacting molecule 2", "type": "synonym" }, { "name": "Rab-3-interacting protein 3", "type": "synonym" }, { "name": "Rab3-interacting protein", "type": "synonym" }, { "name": "non-small cell lung cancer RimL3a protein", "type": "synonym" }, { "name": "non-small cell lung cancer RimL3c protein", "type": "synonym" }, { "name": "nuclear protein", "type": "synonym" }, { "name": "rab-3-interacting molecule 2", "type": "synonym" }, { "name": "rab-3-interacting protein 3", "type": "synonym" }, { "name": "rab3-interacting molecule 2", "type": "synonym" }, { "name": "regulating synaptic membrane exocytosis protein 2 isoform a", "type": "synonym" }, { "name": "regulating synaptic membrane exocytosis protein 2", "type": "synonym" } ], "gene_names": [ { "name": "RIMS2", "type": "recommended" }, { "name": "CRSDS", "type": "synonym" }, { "name": "KIAA0751", "type": "synonym" }, { "name": "OBOE", "type": "synonym" }, { "name": "RAB3IP3", "type": "synonym" }, { "name": "RIM2", "type": "synonym" }, { "name": "RIMS2", "type": "synonym" } ], "record_id": "Q9UQ26-6", "evidence": [ { "id": "0060041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060041" } ] }, { "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 domain 1D (RBP2-like)", "type": "synonym" }, { "name": "Jumonji/ARID domain-containing protein 1D", "type": "synonym" }, { "name": "Protein SmcY", "type": "synonym" }, { "name": "SMC homolog, Y chromosome", "type": "synonym" }, { "name": "Smcy homolog, Y-linked", "type": "synonym" }, { "name": "[histone H3]-trimethyl-L-lysine(4) demethylase 5D", "type": "synonym" }, { "name": "epididymis secretory sperm binding protein", "type": "synonym" }, { "name": "histocompatibility Y antigen", "type": "synonym" }, { "name": "histone demethylase JARID1D", "type": "synonym" }, { "name": "jumonji/ARID domain-containing protein 1D", "type": "synonym" }, { "name": "lysine (K)-specific demethylase 5D", "type": "synonym" }, { "name": "lysine-specific demethylase 5D isoform 1", "type": "synonym" }, { "name": "protein SmcY", "type": "synonym" }, { "name": "selected mouse cDNA on Y, human homolog of", "type": "synonym" } ], "gene_names": [ { "name": "KDM5D", "type": "recommended" }, { "name": "HYA", "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": "0060041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060041" } ] }, { "uniprot_canonical_ac": "Q96NU0-1", "uniprot_ac": "Q96NU0", "uniprot_id": "CNT3B_HUMAN", "refseq_ac": "NP_001188309", "glycoprotein": "yes", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "Contactin-associated protein-like 3B", "type": "recommended" }, { "name": "Cell recognition molecule Caspr3b", "type": "synonym" }, { "name": "cell recognition molecule Caspr3b", "type": "synonym" }, { "name": "contactin associated protein like 3B", "type": "synonym" }, { "name": "contactin-associated protein-like 3B precursor", "type": "synonym" } ], "gene_names": [ { "name": "CNTNAP3B", "type": "recommended" }, { "name": "CASPR3B", "type": "synonym" }, { "name": "CNTNAP3B", "type": "synonym" } ], "record_id": "Q96NU0-1", "evidence": [ { "id": "0060041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060041" } ] }, { "uniprot_canonical_ac": "O14647-1", "uniprot_ac": "O14647", "uniprot_id": "CHD2_HUMAN", "refseq_ac": "NP_001036037", "glycoprotein": "yes", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "ATP-dependent chromatin remodeler CHD2", "type": "recommended" }, { "name": "3.6.4.-", "type": "synonym" }, { "name": "ATP-dependent chromatin remodeler CHD2 isoform 2", "type": "synonym" }, { "name": "ATP-dependent chromatin remodeler CHD2", "type": "synonym" }, { "name": "ATP-dependent helicase CHD2", "type": "synonym" }, { "name": "CHD-2", "type": "synonym" }, { "name": "Chromo domain-containing protein 2", "type": "synonym" }, { "name": "chromo domain-containing protein 2", "type": "synonym" } ], "gene_names": [ { "name": "CHD2", "type": "recommended" }, { "name": "CHD2", "type": "synonym" }, { "name": "DEE94", "type": "synonym" }, { "name": "EEOC", "type": "synonym" } ], "record_id": "O14647-1", "evidence": [ { "id": "0060041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060041" } ] }, { "uniprot_canonical_ac": "Q9ULB1-1", "uniprot_ac": "Q9ULB1", "uniprot_id": "NRX1A_HUMAN", "refseq_ac": "NP_001317011", "glycoprotein": "yes", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "Neurexin-1", "type": "recommended" }, { "name": "Neurexin I-alpha", "type": "synonym" }, { "name": "Neurexin-1-alpha", "type": "synonym" }, { "name": "neurexin I", "type": "synonym" }, { "name": "neurexin-1 isoform alpha5 precursor", "type": "synonym" } ], "gene_names": [ { "name": "NRXN1", "type": "recommended" }, { "name": "Hs.22998", "type": "synonym" }, { "name": "KIAA0578", "type": "synonym" }, { "name": "NRXN1", "type": "synonym" }, { "name": "PTHSL2", "type": "synonym" }, { "name": "SCZD17", "type": "synonym" } ], "record_id": "Q9ULB1-1", "evidence": [ { "id": "0060041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060041" } ] }, { "uniprot_canonical_ac": "P51114-1", "uniprot_ac": "P51114", "uniprot_id": "FXR1_HUMAN", "refseq_ac": "NP_001013456", "glycoprotein": "yes", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "RNA-binding protein FXR1", "type": "recommended" }, { "name": "FMR1 autosomal homolog 1", "type": "synonym" }, { "name": "FMR1 autosomal protein-like protein 1", "type": "synonym" }, { "name": "RNA-binding protein FXR1 isoform b", "type": "synonym" }, { "name": "RNA-binding protein FXR1", "type": "synonym" }, { "name": "hFXR1p", "type": "synonym" } ], "gene_names": [ { "name": "FXR1", "type": "recommended" }, { "name": "CMYO9A", "type": "synonym" }, { "name": "CMYO9B", "type": "synonym" }, { "name": "CMYP9A", "type": "synonym" }, { "name": "CMYP9B", "type": "synonym" }, { "name": "FXR1P", "type": "synonym" }, { "name": "FXR1", "type": "synonym" }, { "name": "MYOPMIL", "type": "synonym" }, { "name": "MYORIBF", "type": "synonym" } ], "record_id": "P51114-1", "evidence": [ { "id": "0060041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060041" } ] }, { "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": "0060041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060041" } ] }, { "uniprot_canonical_ac": "P52848-1", "uniprot_ac": "P52848", "uniprot_id": "NDST1_HUMAN", "refseq_ac": "NP_001287992", "glycoprotein": "yes", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "Bifunctional heparan sulfate N-deacetylase/N-sulfotransferase 1", "type": "recommended" }, { "name": "Glucosaminyl N-deacetylase/N-sulfotransferase 1", "type": "synonym" }, { "name": "HSNST 1", "type": "synonym" }, { "name": "N-Deacetylase-N-sulfotransferase 1", "type": "synonym" }, { "name": "N-HSST 1", "type": "synonym" }, { "name": "N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1", "type": "synonym" }, { "name": "N-deacetylase/N-sulfotransferase 1", "type": "synonym" }, { "name": "N-heparan sulfate sulfotransferase 1", "type": "synonym" }, { "name": "NDST-1", "type": "synonym" }, { "name": "[Heparan sulfate]-glucosamine N-sulfotransferase 1", "type": "synonym" }, { "name": "bifunctional heparan sulfate N-deacetylase/N-sulfotransferase 1 isoform 2", "type": "synonym" }, { "name": "bifunctional heparan sulfate N-deacetylase/N-sulfotransferase 1", "type": "synonym" }, { "name": "glucosaminyl N-deacetylase/N-sulfotransferase 1", "type": "synonym" }, { "name": "heparan sulfate-N-deacetylase/N-sulfotransferase", "type": "synonym" }, { "name": "heparan sulfate/heparin GlcNAc N-deacetylase/GlcN N-sulfotransferase 1", "type": "synonym" } ], "gene_names": [ { "name": "NDST1", "type": "recommended" }, { "name": "HSST1", "type": "synonym" }, { "name": "HSST", "type": "synonym" }, { "name": "MRT46", "type": "synonym" }, { "name": "NDST1", "type": "synonym" }, { "name": "NST1", "type": "synonym" } ], "record_id": "P52848-1", "evidence": [ { "id": "0060041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060041" } ] }, { "uniprot_canonical_ac": "Q9UBN4-1", "uniprot_ac": "Q9UBN4", "uniprot_id": "TRPC4_HUMAN", "refseq_ac": "NP_001129427", "glycoprotein": "yes", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "Short transient receptor potential channel 4", "type": "recommended" }, { "name": "Trp-related protein 4", "type": "synonym" }, { "name": "TrpC4", "type": "synonym" }, { "name": "hTrp-4", "type": "synonym" }, { "name": "hTrp4", "type": "synonym" }, { "name": "short transient receptor potential channel 4 isoform beta", "type": "synonym" }, { "name": "short transient receptor potential channel 4", "type": "synonym" }, { "name": "trp-related protein 4", "type": "synonym" } ], "gene_names": [ { "name": "TRPC4", "type": "recommended" }, { "name": "HTRP-4", "type": "synonym" }, { "name": "HTRP4", "type": "synonym" }, { "name": "TRP4", "type": "synonym" }, { "name": "TRPC4", "type": "synonym" } ], "record_id": "Q9UBN4-1", "evidence": [ { "id": "0060041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060041" } ] }, { "uniprot_canonical_ac": "P48995-1", "uniprot_ac": "P48995", "uniprot_id": "TRPC1_HUMAN", "refseq_ac": "NP_001238774", "glycoprotein": "no", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "Short transient receptor potential channel 1", "type": "recommended" }, { "name": "TRP-1", "type": "synonym" }, { "name": "Transient receptor protein 1", "type": "synonym" }, { "name": "TrpC1", "type": "synonym" }, { "name": "capacitative calcium channel protein Trp1", "type": "synonym" }, { "name": "short transient receptor potential channel 1 isoform 1", "type": "synonym" }, { "name": "short transient receptor potential channel 1", "type": "synonym" }, { "name": "transient receptor potential canonical 1", "type": "synonym" }, { "name": "transient receptor protein 1", "type": "synonym" } ], "gene_names": [ { "name": "TRPC1", "type": "recommended" }, { "name": "HTRP-1", "type": "synonym" }, { "name": "TRP1", "type": "synonym" }, { "name": "TRPC1", "type": "synonym" } ], "record_id": "P48995-1", "evidence": [ { "id": "0060041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060041" } ] }, { "uniprot_canonical_ac": "Q7Z3K3-1", "uniprot_ac": "Q7Z3K3", "uniprot_id": "POGZ_HUMAN", "refseq_ac": "NP_001181866", "glycoprotein": "yes", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "Pogo transposable element with ZNF domain", "type": "recommended" }, { "name": "Suppressor of hairy wing homolog 5", "type": "synonym" }, { "name": "Zinc finger protein 280E", "type": "synonym" }, { "name": "Zinc finger protein 635", "type": "synonym" }, { "name": "pogo transposable element with ZNF domain isoform 4", "type": "synonym" }, { "name": "pogo transposable element with ZNF domain", "type": "synonym" }, { "name": "putative protein product of Nbla00003", "type": "synonym" }, { "name": "zinc finger protein 280E", "type": "synonym" }, { "name": "zinc finger protein 635", "type": "synonym" } ], "gene_names": [ { "name": "POGZ", "type": "recommended" }, { "name": "KIAA0461", "type": "synonym" }, { "name": "MRD37", "type": "synonym" }, { "name": "Nbla00003", "type": "synonym" }, { "name": "POGZ", "type": "synonym" }, { "name": "SUHW5", "type": "synonym" }, { "name": "WHSUS", "type": "synonym" }, { "name": "ZNF280E", "type": "synonym" }, { "name": "ZNF635m", "type": "synonym" }, { "name": "ZNF635", "type": "synonym" } ], "record_id": "Q7Z3K3-1", "evidence": [ { "id": "0060041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060041" } ] }, { "uniprot_canonical_ac": "P52849-1", "uniprot_ac": "P52849", "uniprot_id": "NDST2_HUMAN", "refseq_ac": "NP_001317036", "glycoprotein": "yes", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "Bifunctional heparan sulfate N-deacetylase/N-sulfotransferase 2", "type": "recommended" }, { "name": "2.8.2.8", "type": "synonym" }, { "name": "Glucosaminyl N-deacetylase/N-sulfotransferase 2", "type": "synonym" }, { "name": "N-HSST 2", "type": "synonym" }, { "name": "N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 2", "type": "synonym" }, { "name": "N-heparan sulfate sulfotransferase 2", "type": "synonym" }, { "name": "NDST-2", "type": "synonym" }, { "name": "bifunctional heparan sulfate N-deacetylase/N-sulfotransferase 2 isoform 2", "type": "synonym" }, { "name": "bifunctional heparan sulfate N-deacetylase/N-sulfotransferase 2", "type": "synonym" }, { "name": "glucosaminyl N-deacetylase/N-sulfotransferase 2", "type": "synonym" } ], "gene_names": [ { "name": "NDST2", "type": "recommended" }, { "name": "HSST2", "type": "synonym" }, { "name": "N-HSST 2", "type": "synonym" }, { "name": "NDST2", "type": "synonym" }, { "name": "NST2", "type": "synonym" } ], "record_id": "P52849-1", "evidence": [ { "id": "0060041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060041" } ] }, { "uniprot_canonical_ac": "Q5VUJ5-1", "uniprot_ac": "Q5VUJ5", "uniprot_id": "AGAP7_HUMAN", "refseq_ac": "", "glycoprotein": "yes", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "Putative Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 7", "type": "recommended" }, { "name": "AGAP-7", "type": "synonym" }, { 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sapiens [9606]" } ], "protein_names": [ { "name": "Cell adhesion molecule DSCAM", "type": "recommended" }, { "name": "CHD2", "type": "synonym" }, { "name": "Down syndrome cell adhesion molecule", "type": "synonym" }, { "name": "cell adhesion molecule DSCAM isoform CHD2-42 precursor", "type": "synonym" }, { "name": "cell adhesion molecule DSCAM", "type": "synonym" } ], "gene_names": [ { "name": "DSCAM", "type": "recommended" }, { "name": "CHD2-42", "type": "synonym" }, { "name": "CHD2-52", "type": "synonym" }, { "name": "CHD2", "type": "synonym" }, { "name": "DSCAM", "type": "synonym" } ], "record_id": "O60469-1", "evidence": [ { "id": "0060041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060041" } ] }, { "uniprot_canonical_ac": "Q5VTM2-1", "uniprot_ac": "Q5VTM2", "uniprot_id": "AGAP9_HUMAN", "refseq_ac": "NP_001177739", "glycoprotein": "yes", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 9", "type": "recommended" }, { "name": "AGAP-9", "type": "synonym" }, { "name": "Centaurin-gamma-like family member 6", "type": "synonym" }, { "name": "arf-GAP with GTPase, ANK repeat and PH domain-containing protein 9", "type": "synonym" }, { "name": "centaurin-gamma-like family member 6", "type": "synonym" } ], "gene_names": [ { "name": "AGAP9", "type": "recommended" }, { "name": "AGAP-9", "type": "synonym" }, { "name": "AGAP9", "type": "synonym" }, { "name": "CTGLF6", "type": "synonym" }, { "name": "bA301J7.2", "type": "synonym" } ], "record_id": "Q5VTM2-1", "evidence": [ { "id": "0060041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060041" } ] }, { "uniprot_canonical_ac": "Q02078-1", "uniprot_ac": "Q02078", "uniprot_id": "MEF2A_HUMAN", "refseq_ac": "NP_001124399", "glycoprotein": "yes", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "Myocyte-specific enhancer factor 2A", "type": "recommended" }, { "name": "MADS box transcription enhancer factor 2, polypeptide A (myocyte enhancer factor 2A)", "type": "synonym" }, { "name": "Serum response factor-like protein 1", "type": "synonym" }, { "name": "myocyte-specific enhancer factor 2A isoform 3", "type": "synonym" }, { "name": "myocyte-specific enhancer factor 2A", "type": "synonym" }, { "name": "serum response factor-like protein 1", "type": "synonym" } ], "gene_names": [ { "name": "MEF2A", "type": "recommended" }, { "name": "ADCAD1", "type": "synonym" }, { "name": "MEF2A", "type": "synonym" }, { "name": "MEF2", "type": "synonym" }, { "name": "RSRFC4", "type": "synonym" }, { "name": "RSRFC9", "type": "synonym" }, { "name": "mef2", "type": "synonym" } ], "record_id": "Q02078-1", "evidence": [ { "id": "0060041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060041" } ] }, { "uniprot_canonical_ac": "Q96EN8-1", "uniprot_ac": "Q96EN8", "uniprot_id": "MOCOS_HUMAN", "refseq_ac": "NP_060417", "glycoprotein": "yes", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "Molybdenum cofactor sulfurase", "type": "recommended" }, { "name": "2.8.1.9", "type": "synonym" }, { "name": "MCS", "type": "synonym" }, { "name": "MOS", "type": "synonym" }, { "name": "MoCo sulfurase", "type": "synonym" }, { "name": "Molybdenum cofactor sulfurtransferase", "type": "synonym" }, { "name": "hMCS", "type": "synonym" }, { "name": "human molybdenum cofactor sulfurase", "type": "synonym" }, { "name": "molybdenum cofactor sulfurase", "type": "synonym" } ], "gene_names": [ { "name": "MOCOS", "type": "recommended" }, { "name": "HMCS", "type": "synonym" }, { "name": "MCS", 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"recommended" }, { "name": "NET16", "type": "synonym" }, { "name": "UTP17", "type": "synonym" }, { "name": "WDR75", "type": "synonym" } ], "record_id": "Q8IWA0-1", "evidence": [ { "id": "0060041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060041" } ] }, { "uniprot_canonical_ac": "Q02080-1", "uniprot_ac": "Q02080", "uniprot_id": "MEF2B_HUMAN", "refseq_ac": "NP_001139257", "glycoprotein": "yes", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "Myocyte-specific enhancer factor 2B", "type": "recommended" }, { "name": "MADS box transcription enhancer factor 2, polypeptide B (myocyte enhancer factor 2B)", "type": "synonym" }, { "name": "RSRFR2", "type": "synonym" }, { "name": "Serum response factor-like protein 2", "type": "synonym" }, { "name": "myocyte-specific enhancer factor 2B isoform 1", "type": "synonym" }, { "name": "myocyte-specific enhancer factor 2B", "type": "synonym" }, { "name": "serum response factor-like protein 2", "type": "synonym" } ], "gene_names": [ { "name": "MEF2B", "type": "recommended" }, { "name": "MEF2B", "type": "synonym" }, { "name": "RSRFR2", "type": "synonym" }, { "name": "XMEF2", "type": "synonym" } ], "record_id": "Q02080-1", "evidence": [ { "id": "0060041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060041" } ] }, { "uniprot_canonical_ac": "Q9BYB0-1", "uniprot_ac": "Q9BYB0", "uniprot_id": "SHAN3_HUMAN", "refseq_ac": "NP_001358973", "glycoprotein": "yes", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "SH3 and multiple ankyrin repeat domains protein 3", "type": "recommended" }, { "name": "ProSAP2", "type": "synonym" }, { "name": "Proline-rich synapse-associated protein 2", "type": "synonym" }, { "name": "SH3 and 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chain alpha-ketoacid dehydrogenase kinase", "type": "synonym" }, { "name": "branched chain ketoacid dehydrogenase kinase", "type": "synonym" }, { "name": "branched-chain alpha-ketoacid dehydrogenase kinase isoform b precursor", "type": "synonym" } ], "gene_names": [ { "name": "BCKDK", "type": "recommended" }, { "name": "BCKDKD", "type": "synonym" }, { "name": "BCKDK", "type": "synonym" }, { "name": "BDK", "type": "synonym" } ], "record_id": "O14874-1", "evidence": [ { "id": "0060041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060041" } ] }, { "uniprot_canonical_ac": "Q7Z410-1", "uniprot_ac": "Q7Z410", "uniprot_id": "TMPS9_HUMAN", "refseq_ac": "NP_892018", "glycoprotein": "yes", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "Transmembrane protease serine 9", "type": "recommended" }, { "name": "3.4.21.-", "type": "synonym" }, { 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{ "name": "elongation protein 2 homolog", "type": "synonym" }, { "name": "elongator complex protein 2 isoform 1", "type": "synonym" }, { "name": "elongator complex protein 2", "type": "synonym" }, { "name": "elongator protein 2", "type": "synonym" }, { "name": "signal transducer and activator of transcription 3 interacting protein 1", "type": "synonym" } ], "gene_names": [ { "name": "ELP2", "type": "recommended" }, { "name": "ELP2", "type": "synonym" }, { "name": "MRT58", "type": "synonym" }, { "name": "SHINC-2", "type": "synonym" }, { "name": "STATIP1", "type": "synonym" }, { "name": "StIP", "type": "synonym" } ], "record_id": "Q6IA86-1", "evidence": [ { "id": "0060041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060041" } ] }, { "uniprot_canonical_ac": "O60462-1", "uniprot_ac": "O60462", "uniprot_id": "NRP2_HUMAN", "refseq_ac": "NP_003863", "glycoprotein": "yes", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": 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