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"AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050592" } ] }, { "uniprot_canonical_ac": "E7FCN8-1", "uniprot_ac": "E7FCN8", "uniprot_id": "INTU_DANRE", "refseq_ac": "XP_068078231", "glycoprotein": "yes", "species": [ { "name": "Danio rerio", "taxid": 7955, "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "protein_names": [ { "name": "Protein inturned", "type": "recommended" }, { "name": "Inturned planar cell polarity effector homolog", "type": "synonym" }, { "name": "protein inturned isoform X2", "type": "synonym" } ], "gene_names": [ { "name": "intu", "type": "recommended" }, { "name": "intu", "type": "synonym" } ], "record_id": "E7FCN8-1", "evidence": [ { "id": "0050592", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050592" } ] }, { "uniprot_canonical_ac": "A0A8M3B435-1", "uniprot_ac": "A0A8M3B435", "uniprot_id": "A0A8M3B435_DANRE", "refseq_ac": "XP_009292952", "glycoprotein": "yes", "species": [ { "name": "Danio rerio", "taxid": 7955, "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "protein_names": [ { "name": "non-specific serine/threonine protein kinase", "type": "recommended" }, { "name": "2.7.11.1", "type": "synonym" }, { "name": "serine/threonine-protein kinase Nek1 isoform X1", "type": "synonym" } ], "gene_names": [ { "name": "nek1", "type": "recommended" }, { "name": "nek1", "type": "synonym" } ], "record_id": "A0A8M3B435-1", "evidence": [ { "id": "0050592", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050592" } ] }, { "uniprot_canonical_ac": "E7F1C4-1", "uniprot_ac": "E7F1C4", "uniprot_id": "SMRDB_DANRE", "refseq_ac": "NP_001340797", "glycoprotein": "no", "species": [ { "name": "Danio rerio", "taxid": 7955, "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "protein_names": [ { "name": "SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A containing DEAD/H box 1B", "type": "recommended" }, { "name": "3.6.4.-", "type": "synonym" }, { "name": "SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A containing DEAD/H box 1b", "type": "synonym" }, { "name": "SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1 b", "type": "synonym" } ], "gene_names": [ { "name": "smarcad1b", "type": "recommended" }, { "name": "si:dkey-76p7.6", "type": "synonym" }, { "name": "smarcad1b", "type": "synonym" } ], "record_id": "E7F1C4-1", "evidence": [ { "id": "0050592", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050592" } ] }, { "uniprot_canonical_ac": "B0R061-1", "uniprot_ac": "B0R061", "uniprot_id": "SMRDA_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": "SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A containing DEAD/H box 1A", "type": "recommended" }, { "name": "3.6.4.-", "type": "synonym" } ], "gene_names": [ { "name": "smarcad1a", "type": "recommended" }, { "name": "si:ch211-247l22.2", "type": "synonym" }, { "name": "smarcad1", "type": "synonym" }, { "name": "wu:fi25c01", "type": "synonym" }, { "name": "zgc:113183", "type": "synonym" } ], "record_id": "B0R061-1", "evidence": [ { "id": "0050592", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050592" } ] }, { "uniprot_canonical_ac": "Q04692-1", "uniprot_ac": "Q04692", "uniprot_id": "SMRCD_MOUSE", "refseq_ac": "NP_001240321", "glycoprotein": "yes", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "SWI/SNF-related 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"https://www.alliancegenome.org/disease/DOID:0050592" } ] }, { "uniprot_canonical_ac": "Q9CQ66-1", "uniprot_ac": "Q9CQ66", "uniprot_id": "DYT2B_MOUSE", "refseq_ac": "NP_079605", "glycoprotein": "no", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Dynein light chain Tctex-type protein 2B", "type": "recommended" }, { "name": "Tctex1 domain containing 2", "type": "synonym" }, { "name": "Tctex1 domain-containing protein 2", "type": "synonym" }, { "name": "dynein light chain Tctex-type protein 2B isoform 1", "type": "synonym" }, { "name": "dynein light chain Tctex-type protein 2B", "type": "synonym" }, { "name": "tctex1 domain-containing protein 2", "type": "synonym" } ], "gene_names": [ { "name": "Dynlt2b", "type": "recommended" }, { "name": "0610012D17Rik", "type": "synonym" }, { "name": "2410011K15Rik", "type": "synonym" }, { "name": "Dynlt2b", "type": 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"Q6A000-1", "evidence": [ { "id": "0050592", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050592" } ] }, { "uniprot_canonical_ac": "Q8K0T2-1", "uniprot_ac": "Q8K0T2", "uniprot_id": "DC2L1_MOUSE", "refseq_ac": "NP_758460", "glycoprotein": "no", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Cytoplasmic dynein 2 light intermediate chain 1", "type": "recommended" }, { "name": "cytoplasmic dynein 2 light intermediate chain 1", "type": "synonym" }, { "name": "dynein 2 light intermediate chain", "type": "synonym" }, { "name": "mD2LIC", "type": "synonym" } ], "gene_names": [ { "name": "Dync2li1", "type": "recommended" }, { "name": "4933404O11Rik", "type": "synonym" }, { "name": "CGI-60", "type": "synonym" }, { "name": "D2lic", "type": "synonym" }, { "name": "Dync2li1", "type": "synonym" }, { "name": "LIC3", "type": "synonym" }, { 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"id": "0050592", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050592" } ] }, { "uniprot_canonical_ac": "Q059U7-1", "uniprot_ac": "Q059U7", "uniprot_id": "INTU_MOUSE", "refseq_ac": "NP_780724", "glycoprotein": "no", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Protein inturned", "type": "recommended" }, { "name": "Inturned planar cell polarity effector homolog", "type": "synonym" }, { "name": "PDZ domain-containing protein 6", "type": "synonym" }, { "name": "inturned planar cell polarity effector homolog", "type": "synonym" }, { "name": "protein inturned isoform 1", "type": "synonym" }, { "name": "protein inturned", "type": "synonym" } ], "gene_names": [ { "name": "Intu", "type": "recommended" }, { "name": "9230116I04Rik", "type": "synonym" }, { "name": "9430087H23Rik", "type": "synonym" }, { "name": "Intu", "type": "synonym" 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"type": "synonym" }, { "name": "NimA-related protein kinase 1", "type": "synonym" }, { "name": "kidney, anemia and testis", "type": "synonym" }, { "name": "never in mitosis A-related kinase 1", "type": "synonym" }, { "name": "nimA-related protein kinase 1", "type": "synonym" }, { "name": "serine/threonine-protein kinase Nek1 isoform 1", "type": "synonym" }, { "name": "serine/threonine-protein kinase Nek1", "type": "synonym" } ], "gene_names": [ { "name": "Nek1", "type": "recommended" }, { "name": "D8Ertd790e", "type": "synonym" }, { "name": "Nek1", "type": "synonym" }, { "name": "kat", "type": "synonym" } ], "record_id": "P51954-1", "evidence": [ { "id": "0050592", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050592" } ] }, { "uniprot_canonical_ac": "Q8K057-1", "uniprot_ac": "Q8K057", "uniprot_id": "IFT80_MOUSE", "refseq_ac": "NP_080917", "glycoprotein": "no", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Intraflagellar transport protein 80 homolog", "type": "recommended" }, { "name": "WD repeat domain 56", "type": "synonym" }, { "name": "WD repeat-containing protein 56", "type": "synonym" }, { "name": "intraflagellar transport 80 homolog", "type": "synonym" }, { "name": "intraflagellar transport protein 80 homolog", "type": "synonym" } ], "gene_names": [ { "name": "Ift80", "type": "recommended" }, { "name": "4921524P20Rik", "type": "synonym" }, { "name": "Ift80", "type": "synonym" }, { "name": "Kiaa1374", "type": "synonym" }, { "name": "Wdr56", "type": "synonym" }, { "name": "mKIAA1374", "type": "synonym" } ], "record_id": "Q8K057-1", "evidence": [ { "id": "0050592", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050592" } ] }, { "uniprot_canonical_ac": "P31380-1", "uniprot_ac": "P31380", "uniprot_id": "FUN30_YEAST", "refseq_ac": "NP_009383", "glycoprotein": "yes", "species": [ { "name": "Saccharomyces cerevisiae S288C", "taxid": 559292, "common_name": "Baker's yeast", "glygen_name": "Yeast", "reference_species": "Saccharomyces cerevisiae S288C [559292]" } ], "protein_names": [ { "name": "Chromatin remodeling protein FUN30", "type": "recommended" }, { "name": "3.6.4.-", "type": "synonym" }, { "name": "Chromatin remodeler FUN30", "type": "synonym" }, { "name": "DNA-dependent ATPase FUN30", "type": "synonym" } ], "gene_names": [ { "name": "FUN30", "type": "recommended" }, { "name": "FUN30", "type": "synonym" }, { "name": "YAL001", "type": "synonym" } ], "record_id": "P31380-1", "evidence": [ { "id": "0050592", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050592" } ] }, { "uniprot_canonical_ac": "Q9JJ79-1", "uniprot_ac": "Q9JJ79", "uniprot_id": "DYHC2_RAT", "refseq_ac": "NP_075413", "glycoprotein": "yes", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "Cytoplasmic dynein 2 heavy chain 1", "type": "recommended" }, { "name": "Cytoplasmic dynein 2 heavy chain", "type": "synonym" }, { "name": "Dynein cytoplasmic heavy chain 2", "type": "synonym" }, { "name": "Dynein heavy chain isotype 1B", "type": "synonym" }, { "name": "Dynein-like protein 4", "type": "synonym" }, { "name": "cytoplasmic dynein 2 heavy chain 1-like", "type": "synonym" }, { "name": "cytoplasmic dynein 2 heavy chain 1", "type": "synonym" }, { "name": "cytoplasmic dynein heavy chain 2", "type": "synonym" }, { "name": "dynein heavy chain isotype 1B", "type": "synonym" }, { "name": "dynein, cytoplasmic, heavy chain 2", "type": "synonym" }, { "name": "dynein, cytoplasmic, heavy polypeptide 2", "type": "synonym" }, { "name": "dynein-like protein 4", "type": "synonym" } ], "gene_names": [ { "name": "Dync2h1", "type": "recommended" }, { "name": "Dhc1b", "type": "synonym" }, { "name": "Dlp4", "type": "synonym" }, { "name": "Dnch2", "type": "synonym" }, { "name": "Dnchc2", "type": "synonym" }, { "name": "Dync2h1", "type": "synonym" } ], "record_id": "Q9JJ79-1", "evidence": [ { "id": "0050592", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050592" } ] }, { "uniprot_canonical_ac": "D3ZD38-1", "uniprot_ac": "D3ZD38", "uniprot_id": "D3ZD38_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": "Dynein light chain Tctex-type 2B, pseudogene 1", "type": "synonym" } ], "gene_names": [ { "name": "Dynlt2b-ps1", "type": "recommended" }, { "name": "RGD1564702", "type": "synonym" } ], "record_id": "D3ZD38-1", "evidence": [ { "id": "0050592", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050592" } ] }, { "uniprot_canonical_ac": "D4ADI6-1", "uniprot_ac": "D4ADI6", 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"glycoprotein": "no", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "Cytoplasmic dynein 2 light intermediate chain 1", "type": "recommended" }, { "name": "cytoplasmic dynein 2 light intermediate chain 1", "type": "synonym" } ], "gene_names": [ { "name": "Dync2li1", "type": "recommended" }, { "name": "Dync2li1", "type": "synonym" }, { "name": "Lic3", "type": "synonym" }, { "name": "RGD1310286", "type": "synonym" } ], "record_id": "Q6AY43-1", "evidence": [ { "id": "0050592", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050592" } ] }, { "uniprot_canonical_ac": "A0A8I5ZZR0-1", "uniprot_ac": "A0A8I5ZZR0", "uniprot_id": "A0A8I5ZZR0_RAT", "refseq_ac": "NP_001414133", "glycoprotein": "yes", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "RIKEN cDNA 4933427D14 gene like", "type": "synonym" }, { "name": "protein moonraker", "type": "synonym" } ], "gene_names": [ { "name": "4933427D14Rikl", "type": "recommended" }, { "name": "4933427D14Rikl", "type": "synonym" }, { "name": "RGD1304728", "type": "synonym" } ], "record_id": "A0A8I5ZZR0-1", "evidence": [ { "id": "0050592", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050592" } ] }, { "uniprot_canonical_ac": "A0A8I5Y075-1", "uniprot_ac": "A0A8I5Y075", "uniprot_id": "A0A8I5Y075_RAT", "refseq_ac": "XP_063140281", "glycoprotein": "no", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "Intraflagellar transport 52", "type": "synonym" }, { "name": "intraflagellar transport protein 52 homolog isoform X1", "type": "synonym" } ], "gene_names": [ { "name": "Ift52", "type": "recommended" }, { "name": "Ift52", "type": "synonym" }, { "name": "RGD1311004", "type": "synonym" } ], "record_id": "A0A8I5Y075-1", "evidence": [ { "id": "0050592", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050592" } ] }, { "uniprot_canonical_ac": "D4ACE5-1", "uniprot_ac": "D4ACE5", "uniprot_id": "INTU_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": "Protein inturned", "type": "recommended" }, { "name": "Inturned planar cell polarity effector homolog", "type": "synonym" }, { "name": "PDZ domain-containing protein 6", "type": "synonym" } ], "gene_names": [ { "name": "Intu", "type": "recommended" }, { "name": "Pdzd6", "type": "synonym" } ], "record_id": "D4ACE5-1", "evidence": [ { "id": "0050592", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050592" } ] }, { "uniprot_canonical_ac": "D3ZB99-1", "uniprot_ac": "D3ZB99", "uniprot_id": "D3ZB99_RAT", "refseq_ac": "XP_038950290", "glycoprotein": "no", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "non-specific serine/threonine protein kinase", "type": "recommended" }, { "name": "2.7.11.1", "type": "synonym" }, { "name": "serine/threonine-protein kinase Nek1 isoform X3", "type": "synonym" } ], "gene_names": [ { "name": "Nek1", "type": "recommended" }, { "name": "Nek1", "type": "synonym" } ], "record_id": "D3ZB99-1", "evidence": [ { "id": "0050592", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050592" } ] }, { "uniprot_canonical_ac": "Q66HB3-1", "uniprot_ac": "Q66HB3", "uniprot_id": "IFT80_RAT", "refseq_ac": "NP_001013933", "glycoprotein": "no", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "Intraflagellar transport protein 80 homolog", "type": "recommended" }, { "name": "WD repeat domain 56", "type": "synonym" }, { "name": "WD repeat-containing protein 56", "type": "synonym" }, { "name": "intraflagellar transport 80 homolog", "type": "synonym" }, { "name": "intraflagellar transport protein 80 homolog isoform 1", "type": "synonym" }, { "name": "intraflagellar transport protein 80 homolog", "type": "synonym" } ], "gene_names": [ { "name": "Ift80", "type": "recommended" }, { "name": "Ift80", "type": "synonym" }, { "name": "RGD1312006", "type": "synonym" }, { "name": "Wdr56", "type": "synonym" } ], "record_id": "Q66HB3-1", "evidence": [ { "id": "0050592", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050592" } ] }, { "uniprot_canonical_ac": "D3Z9Z9-1", "uniprot_ac": "D3Z9Z9", "uniprot_id": "SMRCD_RAT", "refseq_ac": "NP_001101334", "glycoprotein": "no", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A containing DEAD/H box 1", "type": "recommended" }, { "name": "3.6.4.-", "type": "synonym" }, { "name": "SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A containing DEAD/H box 1 isoform 1", "type": "synonym" }, { "name": "SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1`", "type": "synonym" }, { "name": "SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1", "type": "synonym" } ], "gene_names": [ { "name": "Smarcad1", "type": "recommended" }, { "name": "Smarcad1", "type": "synonym" } ], "record_id": "D3Z9Z9-1", "evidence": [ { "id": "0050592", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050592" } ] }, { "uniprot_canonical_ac": "P70606-1", "uniprot_ac": "P70606", "uniprot_id": "KCNN1_RAT", "refseq_ac": "NP_062186", "glycoprotein": "no", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "Small conductance calcium-activated potassium channel protein 1", "type": "recommended" }, { "name": "KCa2.1", "type": "synonym" }, { "name": "SK1", "type": "synonym" }, { "name": "SKCa 1", "type": "synonym" }, { "name": "SKCa1", "type": "synonym" }, { "name": "potassium channel, calcium activated intermediate/small conductance subfamily N alpha, member 1", "type": "synonym" }, { "name": "potassium intermediate/small conductance calcium-activated channel, subfamily N, member 1-like", "type": "synonym" }, { "name": "small conductance calcium-activated potassium channel protein 1", "type": "synonym" } ], "gene_names": [ { "name": "Kcnn1", "type": "recommended" }, { "name": "KCa2.1", "type": "synonym" }, { "name": "Kcnn1", "type": "synonym" }, { "name": "SK1", "type": "synonym" }, { "name": "SKCa1", "type": "synonym" }, { "name": "Sk1", "type": "synonym" } ], "record_id": "P70606-1", "evidence": [ { "id": "0050592", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050592" } ] }, { "uniprot_canonical_ac": "Q0E8P6-1", "uniprot_ac": "Q0E8P6", "uniprot_id": "Q0E8P6_DROME", "refseq_ac": "NP_001036369", "glycoprotein": "no", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "Dynein heavy chain, cytoplasmic", "type": "recommended" }, { "name": "CG15148-PD", "type": "synonym" }, { "name": "DyneinHC", "type": "synonym" }, { "name": "beethoven", "type": "synonym" }, { "name": "btv-PD", "type": "synonym" }, { "name": "dynein heavy chain 36D", "type": "synonym" } ], "gene_names": [ { "name": "btv", "type": "recommended" }, { "name": "CG15148", "type": "synonym" }, { "name": "DHC2", "type": "synonym" }, { "name": "DHC36D", "type": "synonym" }, { "name": "DHC", "type": "synonym" }, { "name": "Dhc36D", "type": "synonym" }, { "name": "Dmel\\CG15148", "type": "synonym" }, { "name": "Dmel_CG15148", "type": "synonym" }, { "name": "btv", "type": "synonym" } ], "record_id": "Q0E8P6-1", "evidence": [ { "id": "0050592", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050592" } ] }, { "uniprot_canonical_ac": "Q7KUM9-1", "uniprot_ac": "Q7KUM9", "uniprot_id": "Q7KUM9_DROME", "refseq_ac": "NP_996092", "glycoprotein": "no", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "Tctex1 domain-containing protein 2", "type": "recommended" }, { "name": "CG7276-PB", "type": "synonym" }, { "name": "uncharacterized protein", "type": "synonym" } ], "gene_names": [ { "name": "Dmel\\CG7276", "type": "recommended" }, { "name": "CG7276", "type": "synonym" }, { "name": "Dmel\\CG7276", "type": "synonym" }, { "name": "Dmel_CG7276", "type": "synonym" } ], "record_id": "Q7KUM9-1", "evidence": [ { "id": "0050592", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050592" } ] }, { "uniprot_canonical_ac": "Q9VH45-1", "uniprot_ac": "Q9VH45", "uniprot_id": "Q9VH45_DROME", "refseq_ac": "NP_001163579", "glycoprotein": "no", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "CG5359-PB", "type": "synonym" }, { "name": "Uncharacterized protein", "type": "synonym" }, { "name": "uncharacterized protein, isoform B", "type": "synonym" } ], "gene_names": [ { "name": "Dmel\\CG5359", "type": "recommended" }, { "name": "BcDNA:RE37471", "type": "synonym" }, { "name": "CG5359", "type": "synonym" }, { "name": "Dmel\\CG5359", "type": "synonym" }, { "name": "Dmel_CG5359", "type": "synonym" } ], "record_id": "Q9VH45-1", "evidence": [ { "id": "0050592", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050592" } ] }, { "uniprot_canonical_ac": "Q9VLB9-1", "uniprot_ac": "Q9VLB9", "uniprot_id": "Q9VLB9_DROME", "refseq_ac": "NP_609289", "glycoprotein": "yes", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "Cytoplasmic dynein 2 light intermediate chain 1", "type": "recommended" }, { "name": "CG3769-PA", "type": "synonym" }, { "name": "uncharacterized protein", "type": "synonym" } ], "gene_names": [ { "name": "Dmel\\CG3769", "type": "recommended" }, { "name": "CG3769", "type": "synonym" }, { "name": "Dmel\\CG3769", "type": "synonym" }, { "name": "Dmel_CG3769", "type": "synonym" } ], "record_id": "Q9VLB9-1", "evidence": [ { "id": "0050592", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050592" } ] }, { "uniprot_canonical_ac": "Q9VMC0-1", "uniprot_ac": "Q9VMC0", "uniprot_id": "Q9VMC0_DROME", "refseq_ac": "NP_609045", "glycoprotein": "no", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "CG9595-PB", "type": "synonym" }, { "name": "IFT52-PB", "type": "synonym" }, { "name": "Intraflagellar transport 52", "type": "synonym" }, { "name": "Osm-6 ortholog", "type": "synonym" }, { "name": "intraflagellar transport 52", "type": "synonym" } ], "gene_names": [ { "name": "IFT52", "type": "recommended" }, { "name": "CG9595", "type": "synonym" }, { "name": "Dmel\\CG9595", "type": "synonym" }, { "name": "Dmel_CG9595", "type": "synonym" }, { "name": "IFT52", "type": "synonym" }, { "name": "NGD5", "type": "synonym" }, { "name": "OSM-6", "type": "synonym" }, { "name": "Osm-6", "type": "synonym" }, { "name": "Osm6", "type": "synonym" }, { "name": "ift52", "type": "synonym" }, { "name": "osm-6", "type": "synonym" }, { "name": "osm6", "type": "synonym" } ], "record_id": "Q9VMC0-1", "evidence": [ { "id": "0050592", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050592" } ] }, { "uniprot_canonical_ac": "Q9VPH0-1", "uniprot_ac": "Q9VPH0", "uniprot_id": "INTU_DROME", "refseq_ac": "NP_788548", "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 inturned", "type": "recommended" }, { "name": "CG16993-PA", "type": "synonym" }, { "name": "in-PA", "type": "synonym" }, { "name": "inturned", "type": "synonym" }, { "name": "intwined", "type": "synonym" }, { "name": "transcript B", "type": "synonym" } ], "gene_names": [ { "name": "in", "type": "recommended" }, { "name": "B", "type": "synonym" }, { "name": "CG16993", "type": "synonym" }, { "name": "Dmel\\CG16993", "type": "synonym" }, { "name": "In", "type": "synonym" }, { "name": "in", "type": "synonym" } ], "record_id": "Q9VPH0-1", "evidence": [ { "id": "0050592", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050592" } ] }, { "uniprot_canonical_ac": "Q9VII8-1", "uniprot_ac": "Q9VII8", "uniprot_id": "Q9VII8_DROME", "refseq_ac": "NP_610064", "glycoprotein": "no", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "CG9333-PB", "type": "synonym" }, { "name": "Oseg5-PB", "type": "synonym" }, { "name": "Outer segment 5", "type": "synonym" }, { "name": "outer segment 5", "type": "synonym" } ], "gene_names": [ { "name": "Oseg5", "type": "recommended" }, { "name": "CG9333", "type": "synonym" }, { "name": "CHE-2", "type": "synonym" }, { "name": "Che-2", "type": "synonym" }, { "name": "Dmel\\CG9333", "type": "synonym" }, { "name": "Dmel_CG9333", "type": "synonym" }, { "name": "IFT80", "type": "synonym" }, { "name": "OSEG5", "type": "synonym" }, { "name": "OSEG", "type": "synonym" }, { "name": "Oseg5", "type": "synonym" }, { "name": "oseg5", "type": "synonym" } ], "record_id": "Q9VII8-1", "evidence": [ { "id": "0050592", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050592" } ] }, { "uniprot_canonical_ac": "Q9VL72-1", "uniprot_ac": "Q9VL72", "uniprot_id": "SMRCD_DROME", "refseq_ac": "NP_609320", "glycoprotein": "no", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A containing DEAD/H box 1 homolog", "type": "recommended" }, { "name": "3.6.4.-", "type": "synonym" }, { "name": "CG5899-PA", "type": "synonym" }, { "name": "Enhancer trap locus homolog 1", "type": "synonym" }, { "name": "Etl-1", "type": "synonym" }, { "name": "Etl1 homologue", "type": "synonym" }, { "name": "Etl1-PA", "type": "synonym" }, { "name": "Etl1", "type": "synonym" } ], "gene_names": [ { "name": "Etl1", "type": "recommended" }, { "name": "CG5899", "type": "synonym" }, { "name": "Dmel\\CG5899", "type": "synonym" }, { "name": "ETL1", "type": "synonym" }, { "name": "Etl1", "type": "synonym" }, { "name": "SMARCAD1", "type": "synonym" } ], "record_id": "Q9VL72-1", "evidence": [ { "id": "0050592", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050592" } ] }, { "uniprot_canonical_ac": "Q9P2H3-1", "uniprot_ac": "Q9P2H3", "uniprot_id": "IFT80_HUMAN", "refseq_ac": "NP_001177170", "glycoprotein": "no", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "Intraflagellar transport protein 80 homolog", "type": "recommended" }, { "name": "WD repeat domain 56", "type": "synonym" }, { "name": "WD repeat-containing protein 56", "type": "synonym" }, { "name": "intraflagellar transport 80 homolog", "type": "synonym" }, { "name": "intraflagellar transport protein 80 homolog isoform b", "type": "synonym" } ], "gene_names": [ { "name": "IFT80", "type": "recommended" }, { "name": "ATD2", "type": "synonym" }, { "name": "CFAP167", "type": "synonym" }, { "name": "FAP167", "type": "synonym" }, { "name": "IFT80", "type": "synonym" }, { "name": "KIAA1374", "type": "synonym" }, { "name": "SRTD2", "type": "synonym" }, { "name": "WDR56", "type": "synonym" } ], "record_id": "Q9P2H3-1", "evidence": [ { "id": "0050592", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050592" } ] }, { "uniprot_canonical_ac": "Q9H4L7-1", "uniprot_ac": "Q9H4L7", "uniprot_id": "SMRCD_HUMAN", "refseq_ac": "NP_001121901", "glycoprotein": "yes", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A containing DEAD/H box 1", "type": "recommended" }, { "name": "3.6.4.-", "type": "synonym" }, { "name": "ATP-dependent helicase 1", "type": "synonym" }, { "name": "HPGDS antisense RNA 1", "type": "synonym" }, { "name": "SMARCAD1", "type": "synonym" }, { "name": "SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A containing DEAD/H box 1 isoform a", "type": "synonym" }, { "name": "SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1", "type": "synonym" }, { "name": "sclerotylosis", "type": "synonym" } ], "gene_names": [ { "name": "SMARCAD1", "type": "recommended" }, { "name": "ADERM", "type": "synonym" }, { "name": "BASNS", "type": "synonym" }, { "name": "ETL1", "type": "synonym" }, { "name": "HEL1", "type": "synonym" }, { "name": "HPGDS-AS1", "type": "synonym" }, { "name": "HRZ", "type": "synonym" }, { "name": "KIAA1122", "type": "synonym" }, { "name": "SMARCAD1", "type": "synonym" }, { "name": "TYS", "type": "synonym" } ], "record_id": "Q9H4L7-1", "evidence": [ { "id": "0050592", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050592" } ] }, { "uniprot_canonical_ac": "Q96PY6-1", "uniprot_ac": "Q96PY6", "uniprot_id": "NEK1_HUMAN", "refseq_ac": "NP_001186326", "glycoprotein": "yes", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "Serine/threonine-protein kinase Nek1", "type": "recommended" }, { "name": "2.7.11.1", "type": "synonym" }, { "name": "NIMA (never in mitosis gene a)-related kinase 1", "type": "synonym" }, { "name": "Never in mitosis A-related kinase 1", "type": "synonym" }, { "name": "NimA-related protein kinase 1", "type": "synonym" }, { "name": "Renal carcinoma antigen NY-REN-55", "type": "synonym" }, { "name": "never in mitosis A-related kinase 1", "type": "synonym" }, { "name": "nimA-related protein kinase 1", "type": "synonym" }, { "name": "protein-serine/threonine kinase", "type": "synonym" }, { "name": "renal carcinoma antigen NY-REN-55", "type": "synonym" }, { "name": "serine/threonine-protein kinase Nek1 isoform 1", "type": "synonym" }, { "name": "serine/threonine-protein kinase Nek1", "type": "synonym" } ], "gene_names": [ { "name": "NEK1", "type": "recommended" }, { "name": "ALS24", "type": "synonym" }, { "name": "KIAA1901", "type": "synonym" }, { "name": "NEK1", "type": "synonym" }, { "name": "NY-REN-55", "type": "synonym" }, { "name": "OFD2", "type": "synonym" }, { "name": "SRPS2A", "type": "synonym" }, { "name": "SRPS2", "type": "synonym" }, { "name": "SRTD6", "type": "synonym" } ], "record_id": "Q96PY6-1", "evidence": [ { "id": "0050592", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050592" } ] }, { "uniprot_canonical_ac": "Q9ULD6-1", "uniprot_ac": "Q9ULD6", "uniprot_id": "INTU_HUMAN", "refseq_ac": "NP_056508", "glycoprotein": "yes", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "Protein inturned", "type": "recommended" }, { "name": "Inturned planar cell polarity effector homolog", "type": "synonym" }, { "name": "PDZ domain containing 6", "type": "synonym" }, { "name": "PDZ domain-containing protein 6", "type": "synonym" }, { "name": "ciliogenesis and planar polarity effector 4", "type": "synonym" }, { "name": "ciliogenesis and planar polarity effector complex subunit 4", "type": "synonym" }, { "name": "inturned planar cell polarity effector homolog", "type": "synonym" }, { "name": "protein inturned", "type": "synonym" } ], "gene_names": [ { "name": "INTU", "type": "recommended" }, { "name": "CPLANE4", "type": "synonym" }, { "name": "INTU", "type": "synonym" }, { "name": "INT", "type": "synonym" }, { "name": "KIAA1284", "type": "synonym" }, { "name": "OFD17", "type": "synonym" }, { "name": "PDZD6", "type": "synonym" }, { "name": "PDZK6", "type": "synonym" }, { "name": "SRTD20", "type": "synonym" } ], "record_id": "Q9ULD6-1", "evidence": [ { "id": "0050592", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050592" } ] }, { "uniprot_canonical_ac": "Q9Y366-1", "uniprot_ac": "Q9Y366", "uniprot_id": "IFT52_HUMAN", "refseq_ac": "NP_001290387", "glycoprotein": "no", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "Intraflagellar transport protein 52 homolog", "type": "recommended" }, { "name": "Protein NGD5 homolog", "type": "synonym" }, { "name": "intraflagellar transport protein 52 homolog isoform 1", "type": "synonym" }, { "name": "intraflagellar transport protein 52 homolog", "type": "synonym" }, { "name": "protein NGD5 homolog", "type": "synonym" } ], "gene_names": [ { "name": "IFT52", "type": "recommended" }, { "name": "C20orf9", "type": "synonym" }, { "name": "CGI-53", "type": "synonym" }, { "name": "IFT52", "type": "synonym" }, { "name": "NGD2", "type": "synonym" }, { "name": "NGD5", "type": "synonym" } ], "record_id": "Q9Y366-1", "evidence": [ { "id": "0050592", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050592" } ] }, { "uniprot_canonical_ac": "Q2KHM9-1", "uniprot_ac": "Q2KHM9", "uniprot_id": "MOONR_HUMAN", "refseq_ac": "NP_055619", "glycoprotein": "yes", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "Protein moonraker", "type": "recommended" }, { "name": "MNR", "type": "synonym" }, { "name": "OFD1 and FOPNL interacting protein", "type": "synonym" }, { "name": "OFD1 and FOR20 interacting protein", "type": "synonym" }, { "name": "OFD1- and FOPNL-interacting protein", "type": "synonym" }, { "name": "protein moonraker isoform 1", "type": "synonym" }, { "name": "protein moonraker", "type": "synonym" } ], "gene_names": [ { "name": "KIAA0753", "type": "recommended" }, { "name": "JBTS38", "type": "synonym" }, { "name": "KIAA0753", "type": "synonym" }, { "name": "MNR", "type": "synonym" }, { "name": "OFIP", "type": "synonym" }, { "name": "SRTD21", "type": "synonym" } ], "record_id": "Q2KHM9-1", "evidence": [ { "id": "0050592", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050592" } ] }, { "uniprot_canonical_ac": "Q8TCX1-1", "uniprot_ac": "Q8TCX1", "uniprot_id": "DC2L1_HUMAN", "refseq_ac": "NP_001180393", "glycoprotein": "yes", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "Cytoplasmic dynein 2 light intermediate chain 1", "type": "recommended" }, { "name": "Dynein 2 light intermediate chain", "type": "synonym" }, { "name": "cytoplasmic dynein 2 light intermediate chain 1 isoform 4", "type": "synonym" } ], "gene_names": [ { "name": "DYNC2LI1", "type": "recommended" }, { "name": "CGI-60", "type": "synonym" }, { "name": "D2LIC", "type": "synonym" }, { "name": "DYNC2LI1", "type": "synonym" }, { "name": "LIC3", "type": "synonym" } ], "record_id": "Q8TCX1-1", "evidence": [ { "id": "0050592", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050592" } ] }, { "uniprot_canonical_ac": "Q8WW35-1", "uniprot_ac": "Q8WW35", "uniprot_id": "DYT2B_HUMAN", "refseq_ac": "NP_689986", "glycoprotein": "no", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "Dynein light chain Tctex-type protein 2B", "type": "recommended" }, { "name": "Tctex1 domain containing 2", "type": "synonym" }, { "name": "Tctex1 domain-containing protein 2", "type": "synonym" }, { "name": "dynein light chain Tctex-type protein 2B isoform 2", "type": "synonym" }, { "name": "dynein light chain Tctex-type protein 2B", "type": "synonym" }, { "name": "tctex1 domain-containing protein 2", "type": "synonym" } ], "gene_names": [ { "name": "DYNLT2B", "type": "recommended" }, { "name": "DYNLT2B", "type": "synonym" }, { "name": "SRTD17", "type": "synonym" }, { "name": "TCTEX1D2", "type": "synonym" } ], "record_id": "Q8WW35-1", "evidence": [ { "id": "0050592", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050592" } ] }, { "uniprot_canonical_ac": "Q8NCM8-1", "uniprot_ac": "Q8NCM8", "uniprot_id": "DYHC2_HUMAN", "refseq_ac": "NP_001073932", "glycoprotein": "yes", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "Cytoplasmic dynein 2 heavy chain 1", "type": "recommended" }, { "name": "Cytoplasmic dynein 2 heavy chain", "type": "synonym" }, { "name": "Dynein cytoplasmic heavy chain 2", "type": "synonym" }, { "name": "Dynein heavy chain 11", "type": "synonym" }, { "name": "Dynein heavy chain isotype 1B", "type": "synonym" }, { "name": "cytoplasmic dynein 2 heavy chain 1 isoform 2", "type": "synonym" }, { "name": "cytoplasmic dynein 2 heavy chain 1", "type": "synonym" }, { "name": "dynein cytoplasmic heavy chain 2", "type": "synonym" }, { "name": "dynein heavy chain 11", "type": "synonym" }, { "name": "dynein heavy chain, isotype 1B", "type": "synonym" }, { "name": "dynein, cytoplasmic, heavy polypeptide 2", "type": "synonym" }, { "name": "hDHC11", "type": "synonym" } ], "gene_names": [ { "name": "DYNC2H1", "type": "recommended" }, { "name": "ATD3", "type": "synonym" }, { "name": "DHC1B", "type": "synonym" }, { "name": "DHC1b", "type": "synonym" }, { "name": "DHC2", "type": "synonym" }, { "name": "DNCH2", "type": "synonym" }, { "name": "DYH1B", "type": "synonym" }, { "name": "DYNC2H1", "type": "synonym" }, { "name": "KIAA1997", "type": "synonym" }, { "name": "SRPS2B", "type": "synonym" }, { "name": "SRTD3", "type": "synonym" }, { "name": "hdhc11", "type": "synonym" } ], "record_id": "Q8NCM8-1", "evidence": [ { "id": "0050592", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050592" } ] } ], "glycans": [], "biomarkers": [], "association_flag": "1000", "record_id": "doid.0050592" }