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"RING finger protein 212B", "type": "synonym" }, { "name": "RING finger protein C14orf164 homolog", "type": "synonym" } ], "gene_names": [ { "name": "Rnf212b", "type": "recommended" }, { "name": "Gm10332", "type": "synonym" }, { "name": "Gm30805", "type": "synonym" }, { "name": "Rnf212b", "type": "synonym" } ], "record_id": "D3Z423-1", "evidence": [ { "id": "0111910", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111910" } ] }, { "uniprot_canonical_ac": "Q9BX26-1", "uniprot_ac": "Q9BX26", "uniprot_id": "SYCP2_HUMAN", "refseq_ac": "NP_055073", "glycoprotein": "yes", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "Synaptonemal complex protein 2", "type": "recommended" }, { "name": "SCP-2", "type": "synonym" }, { "name": "Synaptonemal complex lateral element protein", "type": "synonym" }, { "name": "hsSCP2", "type": "synonym" }, { "name": "synaptonemal complex lateral element protein", "type": "synonym" }, { "name": "synaptonemal complex protein 2", "type": "synonym" } ], "gene_names": [ { "name": "SYCP2", "type": "recommended" }, { "name": "SCP-2", "type": "synonym" }, { "name": "SCP2", "type": "synonym" }, { "name": "SPGF1", "type": "synonym" }, { "name": "SYCP2", "type": "synonym" } ], "record_id": "Q9BX26-1", "evidence": [ { "id": "258150", "database": "MIM", "url": "https://www.omim.org/entry/258150" } ] }, { "uniprot_canonical_ac": "Q06032-1", "uniprot_ac": "Q06032", "uniprot_id": "CST9_YEAST", "refseq_ac": "NP_013498", "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": "Chromosome stability protein 9", "type": "recommended" }, { "name": "Molecular zipper protein 3", "type": "synonym" }, { "name": "SUMO ligase CST9", "type": "synonym" } ], "gene_names": [ { "name": "CST9", "type": "recommended" }, { "name": "CST9", "type": "synonym" }, { "name": "ZIP3", "type": "synonym" } ], "record_id": "Q06032-1", "evidence": [ { "id": "0111910", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111910" } ] }, { "uniprot_canonical_ac": "D3ZAS8-1", "uniprot_ac": "D3ZAS8", "uniprot_id": "D3ZAS8_RAT", "refseq_ac": "XP_006249563", "glycoprotein": "no", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "Spliceosome associated factor 3, U4/U6 recycling protein", "type": "recommended" }, { "name": "Squamous cell carcinoma antigen recognized by T-cells 3", "type": "synonym" }, { "name": "squamous cell carcinoma antigen recognized by T-cells 3 isoform X1", "type": "synonym" } ], "gene_names": [ { "name": "Sart3", "type": "recommended" }, { "name": "Sart3", "type": "synonym" } ], "record_id": "D3ZAS8-1", "evidence": [ { "id": "0111910", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111910" } ] }, { "uniprot_canonical_ac": "A0ABK0LLS5-1", "uniprot_ac": "A0ABK0LLS5", "uniprot_id": "A0ABK0LLS5_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": "Probable E3 SUMO-protein ligase RNF212", "type": "recommended" }, { "name": "Probable E3 SUMO-protein transferase RNF212", "type": "synonym" }, { "name": "RING finger protein 212", "type": "synonym" } ], "gene_names": [ { "name": "Rnf212", "type": "recommended" } ], "record_id": "A0ABK0LLS5-1", "evidence": [ { "id": "0111910", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111910" } ] }, { "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": "0111910", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111910" } ] }, { "uniprot_canonical_ac": "A0A8I5ZUR6-1", "uniprot_ac": "A0A8I5ZUR6", "uniprot_id": "A0A8I5ZUR6_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": "Coiled-coil domain containing 34", "type": "synonym" } ], "gene_names": [ { "name": "Ccdc34", "type": "recommended" } ], "record_id": "A0A8I5ZUR6-1", "evidence": [ { "id": "0111910", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111910" } ] }, { "uniprot_canonical_ac": "Q9VMP1-1", "uniprot_ac": "Q9VMP1", "uniprot_id": "Q9VMP1_DROME", "refseq_ac": "NP_001285630", "glycoprotein": "yes", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "Coiled-coil domain-containing protein", "type": "recommended" }, { "name": "CG7251-PB", "type": "synonym" }, { "name": "uncharacterized protein, isoform B", "type": "synonym" } ], "gene_names": [ { "name": "bs11h10.y1", "type": "recommended" }, { "name": "CG7251", "type": "synonym" }, { "name": "Dmel\\CG7251", "type": "synonym" }, { "name": "Dmel_CG7251", "type": "synonym" }, { "name": "anon-WO0140519.103", "type": "synonym" }, { "name": "bs11h10.y1", "type": "synonym" } ], "record_id": "Q9VMP1-1", "evidence": [ { "id": "0111910", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111910" } ] }, { "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": "0111910", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111910" } ] }, { "uniprot_canonical_ac": "Q9VMP2-1", "uniprot_ac": "Q9VMP2", "uniprot_id": "Q9VMP2_DROME", "refseq_ac": "NP_608943", "glycoprotein": "no", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "Coiled-coil domain-containing protein", "type": "recommended" }, { "name": "CG14011-PA", "type": "synonym" }, { "name": "uncharacterized protein, isoform A", "type": "synonym" } ], "gene_names": [ { "name": "Dmel\\CG14011", "type": "recommended" }, { "name": "CG14011", "type": "synonym" }, { "name": "Dmel\\CG14011", "type": "synonym" }, { "name": "Dmel_CG14011", "type": "synonym" } ], "record_id": "Q9VMP2-1", "evidence": [ { "id": "0111910", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111910" } ] }, { "uniprot_canonical_ac": "Q9VMP0-1", 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"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": "0111910", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111910" } ] }, { "uniprot_canonical_ac": "Q9VAV5-1", "uniprot_ac": "Q9VAV5", "uniprot_id": "Q9VAV5_DROME", "refseq_ac": "NP_524541", "glycoprotein": "yes", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "CG1842-PB", "type": "synonym" }, { "name": "Dhc98D-PB", "type": "synonym" }, { "name": "Dynein heavy chain at 89D, isoform B", "type": "synonym" }, { "name": "dynein heavy chain at 89D, isoform B", "type": "synonym" }, { "name": "dynein-related heavy chain polypeptide", "type": "synonym" } ], "gene_names": [ { "name": "Dhc98D", "type": "recommended" }, { "name": "CG1842", "type": "synonym" }, { "name": "DHC6", "type": "synonym" }, { "name": "DHC", "type": "synonym" }, { "name": "Dhc98D", "type": "synonym" }, { "name": "Dhc", "type": "synonym" }, { "name": "Dmel\\CG1842", "type": "synonym" }, { "name": "Dmel_CG1842", "type": "synonym" }, { "name": "dhc", "type": "synonym" } ], "record_id": "Q9VAV5-1", "evidence": [ { "id": "0111910", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111910" } ] }, { "uniprot_canonical_ac": "Q9VWI4-1", "uniprot_ac": 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"common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "Probable E3 SUMO-protein ligase RNF212", "type": "recommended" }, { "name": "2.3.2.-", "type": "synonym" }, { "name": "Probable E3 SUMO-protein transferase RNF212", "type": "synonym" }, { "name": "RING finger protein 212", "type": "synonym" }, { "name": "probable E3 SUMO-protein ligase RNF212 isoform a", "type": "synonym" }, { "name": "probable E3 SUMO-protein ligase RNF212", "type": "synonym" }, { "name": "probable E3 SUMO-protein transferase RNF212", "type": "synonym" } ], "gene_names": [ { "name": "RNF212", "type": "recommended" }, { "name": "RNF212", "type": "synonym" }, { "name": "SPGF62", "type": "synonym" }, { "name": "ZHP3", "type": "synonym" } ], "record_id": "Q495C1-1", "evidence": [ { "id": "0111910", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111910" } ] }, { "uniprot_canonical_ac": "A8MTL3-1", "uniprot_ac": "A8MTL3", "uniprot_id": "R212B_HUMAN", "refseq_ac": "NP_001269251", "glycoprotein": "yes", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "E3 ubiquitin-protein ligase RNF212B", "type": "recommended" }, { "name": "2.3.2.27", "type": "synonym" }, { "name": "E3 ubiquitin-protein ligase RNF212B", "type": "synonym" }, { "name": "RING finger protein 212B", "type": "synonym" }, { "name": "RING finger protein C14orf164-like", "type": "synonym" } ], "gene_names": [ { "name": "RNF212B", "type": "recommended" }, { "name": "C14orf164", "type": "synonym" }, { "name": "RNF212B", "type": "synonym" } ], "record_id": "A8MTL3-1", "evidence": [ { "id": "0111910", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111910" } ] }, { "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": "0111910", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111910" } ] }, { "uniprot_canonical_ac": "Q96HJ3-1", "uniprot_ac": "Q96HJ3", "uniprot_id": "CCD34_HUMAN", "refseq_ac": "NP_110398", "glycoprotein": "yes", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "Coiled-coil domain-containing protein 34", "type": "recommended" }, { "name": "NY-REN-41 antigen", "type": "synonym" }, { "name": "Renal carcinoma antigen NY-REN-41", "type": "synonym" }, { "name": "coiled-coil domain-containing protein 34 isoform 1", "type": "synonym" }, { "name": "coiled-coil domain-containing protein 34", "type": "synonym" }, { "name": "renal carcinoma antigen NY-REN-41", "type": "synonym" } ], "gene_names": [ { "name": "CCDC34", "type": "recommended" }, { "name": "CCDC34", "type": "synonym" }, { "name": "L15", "type": "synonym" }, { "name": "NY-REN-41", "type": "synonym" }, { "name": "RAMA3", "type": "synonym" }, { "name": "SPGF76", "type": "synonym" } ], "record_id": "Q96HJ3-1", "evidence": [ { "id": "0111910", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111910" } ] }, { "uniprot_canonical_ac": "Q8IVF4-1", "uniprot_ac": "Q8IVF4", "uniprot_id": "DYH10_HUMAN", "refseq_ac": "NP_997320", "glycoprotein": "yes", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "Dynein axonemal heavy chain 10", "type": "recommended" }, { "name": "Axonemal beta dynein heavy chain 10", "type": "synonym" }, { "name": "Ciliary dynein heavy chain 10", "type": "synonym" }, { "name": "axonemal beta dynein heavy chain 10", "type": "synonym" }, { "name": "ciliary dynein heavy chain 10", "type": "synonym" }, { "name": "dynein axonemal heavy chain 10 isoform 1", "type": "synonym" }, { "name": "dynein heavy chain 10, axonemal", "type": "synonym" }, { "name": "dynein, axonemal, heavy polypeptide 10", "type": "synonym" } ], "gene_names": [ { "name": "DNAH10", "type": "recommended" }, { "name": "DNAH10", "type": "synonym" }, { "name": "KIAA2017", "type": "synonym" }, { "name": "SPGF56", "type": "synonym" } ], "record_id": "Q8IVF4-1", "evidence": [ { "id": "0111910", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111910" } ] } ], "glycans": [], "biomarkers": [], "association_flag": "1000", "record_id": "doid.0111910" }