{ "disease_id": "DOID:0070296", "recommended_name": { "id": "DOID:0070296", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070296", "name": "autosomal recessive primary microcephaly", "description": "A primary microcephaly characterized by microcephaly present at birth, where the brain is small but has normal architecture, and nonprogressive mental retardation that has_material_basis_in an autosomal recessive mutation." }, "synonyms": [ { "id": "DOID:0070296", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070296", "name": "MCPH", "description": "" } ], "children": [ { "id": "DOID:0051031", "label": "primary autosomal recessive microcephaly 20", "link_status": true, "children": [] }, { "id": "DOID:0051032", "label": "primary autosomal recessive microcephaly 21", "link_status": true, "children": [] }, { "id": "DOID:0051033", "label": "primary autosomal recessive microcephaly 22", "link_status": true, "children": [] }, { "id": "DOID:0051034", "label": "primary autosomal recessive microcephaly 23", "link_status": true, "children": [] }, { "id": "DOID:0051035", "label": "primary autosomal recessive microcephaly 24", "link_status": true, "children": [] }, { "id": "DOID:0051036", "label": "primary autosomal recessive microcephaly 25", "link_status": true, "children": [] }, { "id": "DOID:0051039", "label": "primary autosomal recessive microcephaly 28", "link_status": true, "children": [] }, { "id": "DOID:0051040", "label": "primary autosomal recessive microcephaly 29", "link_status": true, "children": [] }, { "id": "DOID:0051041", "label": "primary autosomal recessive microcephaly 30", "link_status": true, "children": [] }, { "id": "DOID:0070277", "label": "primary autosomal recessive microcephaly 15", "link_status": true, "children": [] }, { "id": "DOID:0070278", "label": "primary autosomal recessive microcephaly 7", "link_status": true, "children": [] }, { "id": "DOID:0070279", "label": "primary autosomal recessive microcephaly 14", "link_status": true, "children": [] }, { "id": "DOID:0070280", "label": "primary autosomal recessive microcephaly 5", "link_status": true, "children": [] }, { "id": "DOID:0070281", "label": "primary autosomal recessive microcephaly 19", "link_status": true, "children": [] }, { "id": "DOID:0070282", "label": "primary autosomal recessive microcephaly 8", "link_status": true, "children": [] }, { "id": "DOID:0070283", "label": "primary autosomal recessive microcephaly 13", "link_status": true, "children": [] }, { "id": "DOID:0070284", "label": "primary autosomal recessive microcephaly 12", "link_status": true, "children": [] }, { "id": "DOID:0070285", "label": "primary autosomal recessive microcephaly 1", "link_status": true, "children": [] }, { "id": "DOID:0070286", "label": "primary autosomal recessive microcephaly 3", "link_status": true, "children": [] }, { "id": "DOID:0070287", "label": "primary autosomal recessive microcephaly 11", "link_status": true, "children": [] }, { "id": "DOID:0070288", "label": "primary autosomal recessive microcephaly 17", "link_status": true, "children": [] }, { "id": "DOID:0070289", "label": "primary autosomal recessive microcephaly 16", "link_status": true, "children": [] }, { "id": "DOID:0070290", "label": "primary autosomal recessive microcephaly 6", "link_status": true, "children": [] }, { "id": "DOID:0070291", "label": "primary autosomal recessive microcephaly 4", "link_status": true, "children": [] }, { "id": "DOID:0070292", "label": "primary autosomal recessive microcephaly 9", "link_status": true, "children": [] }, { "id": "DOID:0070293", "label": "primary autosomal recessive microcephaly 2 with or without cortical malformations", "link_status": true, "children": [] }, { "id": "DOID:0070294", "label": "primary autosomal recessive microcephaly 10", "link_status": true, "children": [] } ], "id_list": [ "DOID:0051031", "DOID:0070279", "DOID:0070286", "DOID:0070293", "DOID:0070283", "DOID:0051034", "DOID:0051039", "DOID:0070290", "DOID:0070284", "DOID:0070287", "DOID:0070277", "DOID:0070285", "DOID:0070280", "DOID:0070296", "DOID:0051041", "DOID:0070291", "DOID:0070281", "DOID:0070282", "DOID:0051040", "DOID:0051035", "DOID:0070289", "DOID:0070294", "DOID:0070288", "DOID:0051032", "DOID:0051033", "DOID:0070292", "DOID:0051036", "DOID:0070278" ], "unlinked_id_list": [], "crossref": [ { "id": "DOID:0070296", "database": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070296", "categories": [] } ], "proteins": [ { "uniprot_canonical_ac": "E7F6H7-1", "uniprot_ac": "E7F6H7", "uniprot_id": "DCI2A_DANRE", "refseq_ac": "NP_001429003", "glycoprotein": "no", "species": [ { "name": "Danio rerio", "taxid": 7955, "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "protein_names": [ { "name": "Dynein, cytoplasmic 1, intermediate chain 2a", "type": "recommended" }, { "name": "cytoplasmic dynein 1 intermediate chain 2a", "type": "synonym" }, { "name": "dynein, cytoplasmic 1, intermediate chain 2a isoform 1", "type": "synonym" }, { "name": "dynein, cytoplasmic 1, intermediate chain 2", "type": "synonym" } ], "gene_names": [ { "name": "dync1i2a", "type": "recommended" }, { "name": "dync1i2a", "type": "synonym" }, { "name": "dync1i2", "type": "synonym" }, { "name": "im:7147021", "type": "synonym" }, { "name": "zgc:153318", "type": "synonym" } ], "record_id": "E7F6H7-1", "evidence": [ { "id": "0070296", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070296" } ] }, { "uniprot_canonical_ac": "A0A8M2B8W4-1", "uniprot_ac": "A0A8M2B8W4", "uniprot_id": "A0A8M2B8W4_DANRE", "refseq_ac": "XP_005161794", "glycoprotein": "no", "species": [ { "name": "Danio rerio", "taxid": 7955, "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "protein_names": [ { "name": "Abnormal spindle-like microcephaly-associated protein isoform X1", "type": "synonym" }, { "name": "abnormal spindle-like microcephaly-associated protein isoform X1", "type": "synonym" } ], "gene_names": [ { "name": "aspm", "type": "recommended" }, { "name": "aspm", "type": "synonym" }, { "name": "fc13b04", "type": "synonym" }, { "name": "si:dkey-114d20.4", "type": "synonym" }, { "name": "wu:fc13b04", "type": "synonym" } ], "record_id": "A0A8M2B8W4-1", "evidence": [ { "id": "0070296", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070296" } ] }, { "uniprot_canonical_ac": "A0A8M2B3G0-1", "uniprot_ac": "A0A8M2B3G0", "uniprot_id": "A0A8M2B3G0_DANRE", "refseq_ac": "NP_001417772", "glycoprotein": "no", "species": [ { "name": "Danio rerio", "taxid": 7955, "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "protein_names": [ { "name": "Microcephalin isoform 1", "type": "synonym" }, { "name": "Microcephalin isoform X1", "type": "synonym" }, { "name": "microcephalin isoform 1", "type": "synonym" } ], "gene_names": [ { "name": "mcph1", "type": "recommended" }, { "name": "mcph1", "type": "synonym" }, { "name": "zgc:136403", "type": "synonym" } ], "record_id": "A0A8M2B3G0-1", "evidence": [ { "id": "0070296", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070296" } ] }, { "uniprot_canonical_ac": "A0A8M3AY08-1", "uniprot_ac": "A0A8M3AY08", "uniprot_id": "A0A8M3AY08_DANRE", "refseq_ac": "XP_001921879", "glycoprotein": "no", "species": [ { "name": "Danio rerio", "taxid": 7955, "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "protein_names": [ { "name": "Outer kinetochore KNL1 complex subunit KNL1", "type": "synonym" }, { "name": "outer kinetochore KNL1 complex subunit KNL1", "type": "synonym" } ], "gene_names": [ { "name": "knl1", "type": "recommended" }, { "name": "knl1", "type": "synonym" } ], "record_id": "A0A8M3AY08-1", "evidence": [ { "id": "0070296", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070296" } ] }, { "uniprot_canonical_ac": "A0ACD6B7S6-1", "uniprot_ac": "A0ACD6B7S6", "uniprot_id": "A0ACD6B7S6_DANRE", "refseq_ac": "NP_001429277", "glycoprotein": "yes", "species": [ { "name": "Danio rerio", "taxid": 7955, "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "protein_names": [ { "name": "WD repeat-containing protein 62 isoform 2", "type": "synonym" }, { "name": "WD repeat-containing protein 62 isoform X1", "type": "synonym" } ], "gene_names": [ { "name": "wdr62", "type": "recommended" }, { "name": "fb33e12", "type": "synonym" }, { "name": "si:ch211-152c12.2", "type": "synonym" }, { "name": "wdr62", "type": "synonym" }, { "name": "wu:fa11h05", "type": "synonym" }, { "name": "wu:fb33e12", "type": "synonym" } ], "record_id": "A0ACD6B7S6-1", "evidence": [ { "id": "0070296", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070296" } ] }, { "uniprot_canonical_ac": "Q569L8-1", "uniprot_ac": "Q569L8", "uniprot_id": "CPAP_MOUSE", "refseq_ac": "NP_001014996", "glycoprotein": "yes", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Centrosomal P4.1-associated protein", "type": "recommended" }, { "name": "CENP-J", "type": "synonym" }, { "name": "Centromere protein J", "type": "synonym" }, { "name": "Centrosome assembly and centriole elongation protein", "type": "synonym" }, { "name": "centromere protein J", "type": "synonym" }, { "name": "centrosomal P4.1-associated protein isoform 1", "type": "synonym" }, { "name": "centrosomal P4.1-associated protein", "type": "synonym" } ], "gene_names": [ { "name": "Cpap", "type": "recommended" }, { "name": "4932437H03Rik", "type": "synonym" }, { "name": "Cenpj", "type": "synonym" }, { "name": "Cpap", "type": "synonym" }, { "name": "Gm81", "type": "synonym" }, { "name": "LAP", "type": "synonym" }, { "name": "LIP1", "type": "synonym" }, { "name": "Sas4", "type": "synonym" } ], "record_id": "Q569L8-1", "evidence": [ { "id": "0070296", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070296" } ] }, { "uniprot_canonical_ac": "Q8CJ27-1", "uniprot_ac": "Q8CJ27", "uniprot_id": "ASPM_MOUSE", "refseq_ac": "NP_033921", "glycoprotein": "yes", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Abnormal spindle-like microcephaly-associated protein homolog", "type": "recommended" }, { "name": "Calmodulin-binding protein 1", "type": "synonym" }, { "name": "Calmodulin-binding protein Sha1", "type": "synonym" }, { "name": "Spindle and hydroxyurea checkpoint abnormal protein", "type": "synonym" }, { "name": "abnormal spindle-like microcephaly-associated protein homolog", "type": "synonym" }, { "name": "asp (abnormal spindle)-like, microcephaly associated", "type": "synonym" }, { "name": "calmodulin-binding protein 1", "type": "synonym" }, { "name": "calmodulin-binding protein Sha1", "type": "synonym" }, { "name": "spindle and hydroxyurea checkpoint abnormal protein", "type": "synonym" } ], "gene_names": [ { "name": "Aspm", "type": "recommended" }, { "name": "Aspm", "type": "synonym" }, { "name": "Calmbp1", "type": "synonym" }, { "name": "D330028K02Rik", "type": "synonym" }, { "name": "MCPH5", "type": "synonym" }, { "name": "Sha1", "type": "synonym" } ], "record_id": "Q8CJ27-1", "evidence": [ { "id": "0070296", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070296" } ] }, { "uniprot_canonical_ac": "Q7TT79-1", "uniprot_ac": "Q7TT79", "uniprot_id": "MCPH1_MOUSE", "refseq_ac": "NP_775281", "glycoprotein": "no", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Microcephalin", "type": "recommended" }, { "name": "microcephalin isoform 3", "type": "synonym" }, { "name": "microcephalin", "type": "synonym" } ], "gene_names": [ { "name": "Mcph1", "type": "recommended" }, { "name": "5430437K10Rik", "type": "synonym" }, { "name": "BRIT1", "type": "synonym" }, { "name": "D030046N04Rik", "type": "synonym" }, { "name": "MCT", "type": "synonym" }, { "name": "Mcph1", "type": "synonym" }, { "name": "Tg(HLA-A2.1)1Enge", "type": "synonym" } ], "record_id": "Q7TT79-1", "evidence": [ { "id": "0070296", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070296" } ] }, { "uniprot_canonical_ac": "Q66JQ7-1", "uniprot_ac": "Q66JQ7", "uniprot_id": "KNL1_MOUSE", "refseq_ac": "NP_083893", "glycoprotein": "yes", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Outer kinetochore KNL1 complex subunit KNL1", "type": "recommended" }, { "name": "Cancer susceptibility candidate gene 5 protein homolog", "type": "synonym" }, { "name": "Kinetochore scaffold 1", "type": "synonym" }, { "name": "Kinetochore-null protein 1", "type": "synonym" }, { "name": "Protein CASC5", "type": "synonym" }, { "name": "cancer susceptibility candidate 5", "type": "synonym" }, { "name": "kinetochore-null protein 1", "type": "synonym" }, { "name": "outer kinetochore KNL1 complex subunit KNL1 isoform 1", "type": "synonym" }, { "name": "outer kinetochore KNL1 complex subunit KNL1", "type": "synonym" }, { "name": "protein CASC5", "type": "synonym" } ], "gene_names": [ { "name": "Knl1", "type": "recommended" }, { "name": "2310043D08Rik", "type": "synonym" }, { "name": "5730505K17Rik", "type": "synonym" }, { "name": "Casc5", "type": "synonym" }, { "name": "Knl1", "type": "synonym" } ], "record_id": "Q66JQ7-1", "evidence": [ { "id": "0070296", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070296" } ] }, { "uniprot_canonical_ac": "Q3U3T8-1", "uniprot_ac": "Q3U3T8", "uniprot_id": "WDR62_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": "WD repeat-containing protein 62", "type": "recommended" } ], "gene_names": [ { "name": "Wdr62", "type": "recommended" } ], "record_id": "Q3U3T8-1", "evidence": [ { "id": "0070296", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070296" } ] }, { "uniprot_canonical_ac": "O88487-1", "uniprot_ac": "O88487", "uniprot_id": "DC1I2_MOUSE", "refseq_ac": "NP_001185805", "glycoprotein": "yes", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Cytoplasmic dynein 1 intermediate chain 2", "type": "recommended" }, { "name": "Cytoplasmic dynein intermediate chain 2", "type": "synonym" }, { "name": "DH IC-2", "type": "synonym" }, { "name": "Dynein intermediate chain 2, cytosolic", "type": "synonym" }, { "name": "cytoplasmic dynein 1 intermediate chain 2 isoform 5", "type": "synonym" }, { "name": "cytoplasmic dynein 1 intermediate chain 2", "type": "synonym" }, { "name": "dynein intermediate chain 2, cytosolic", "type": "synonym" }, { "name": "dynein, cytoplasmic, intermediate chain 2", "type": "synonym" } ], "gene_names": [ { "name": "Dync1i2", "type": "recommended" }, { "name": "3110079H08Rik", "type": "synonym" }, { "name": "Dnci2", "type": "synonym" }, { "name": "Dncic2", "type": "synonym" }, { "name": "Dync1i2", "type": "synonym" } ], "record_id": "O88487-1", "evidence": [ { "id": "0070296", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070296" } ] }, { "uniprot_canonical_ac": "A0ABK0LZN8-1", "uniprot_ac": "A0ABK0LZN8", "uniprot_id": "A0ABK0LZN8_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": "Centrosomal P4.1-associated protein", "type": "recommended" }, { "name": "Centromere protein J", "type": "synonym" }, { "name": "Centrosome assembly and centriole elongation protein", "type": "synonym" } ], "gene_names": [ { "name": "Cpap", "type": "recommended" } ], "record_id": "A0ABK0LZN8-1", "evidence": [ { "id": "0070296", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070296" } ] }, { "uniprot_canonical_ac": "D3ZZQ1-1", "uniprot_ac": "D3ZZQ1", "uniprot_id": "D3ZZQ1_RAT", "refseq_ac": "NP_001099425", "glycoprotein": "yes", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "Assembly factor for spindle microtubules", "type": "synonym" }, { "name": "abnormal spindle microtubule assembly", "type": "synonym" }, { "name": "abnormal spindle-like microcephaly-associated protein", "type": "synonym" }, { "name": "asp (abnormal spindle) homolog, microcephaly associated", "type": "synonym" }, { "name": "asp (abnormal spindle)-like, microcephaly associated", "type": "synonym" }, { "name": "calmodulin binding protein 1", "type": "synonym" } ], "gene_names": [ { "name": "Aspm", "type": "recommended" }, { "name": "Aspm", "type": "synonym" }, { "name": "Calmbp1", "type": "synonym" } ], "record_id": "D3ZZQ1-1", "evidence": [ { "id": "0070296", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070296" } ] }, { "uniprot_canonical_ac": "D3ZJM7-1", "uniprot_ac": "D3ZJM7", "uniprot_id": "D3ZJM7_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": "Microcephalin", "type": "recommended" } ], "gene_names": [ { "name": "Mcph1", "type": "recommended" } ], "record_id": "D3ZJM7-1", "evidence": [ { "id": "0070296", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070296" } ] }, { "uniprot_canonical_ac": "D3Z896-1", "uniprot_ac": "D3Z896", "uniprot_id": "D3Z896_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": "Kinetochore scaffold 1", "type": "synonym" } ], "gene_names": [ { "name": "Knl1", "type": "recommended" } ], "record_id": "D3Z896-1", "evidence": [ { "id": "0070296", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070296" } ] }, { "uniprot_canonical_ac": "F1M5K2-1", "uniprot_ac": "F1M5K2", "uniprot_id": "F1M5K2_RAT", "refseq_ac": "NP_001178552", "glycoprotein": "yes", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "WD repeat domain 62-like 1", "type": "synonym" }, { "name": "WD repeat domain 62", "type": "synonym" }, { "name": "WD repeat-containing protein 62-like", "type": "synonym" }, { "name": "WD repeat-containing protein 62", "type": "synonym" } ], "gene_names": [ { "name": "Wdr62", "type": "recommended" }, { "name": "LOC100911863", "type": "synonym" }, { "name": "RGD1306714", "type": "synonym" }, { "name": "Wdr62", "type": "synonym" } ], "record_id": "F1M5K2-1", "evidence": [ { "id": "0070296", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070296" } ] }, { "uniprot_canonical_ac": "Q62871-1", "uniprot_ac": "Q62871", "uniprot_id": "DC1I2_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": "Cytoplasmic dynein 1 intermediate chain 2", "type": "recommended" }, { "name": "Cytoplasmic dynein intermediate chain 2", "type": "synonym" }, { "name": "DH IC-2", "type": "synonym" }, { "name": "Dynein intermediate chain 2, cytosolic", "type": "synonym" } ], "gene_names": [ { "name": "Dync1i2", "type": "recommended" }, { "name": "Dnci2", "type": "synonym" }, { "name": "Dncic2", "type": "synonym" } ], "record_id": "Q62871-1", "evidence": [ { "id": "0070296", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070296" } ] }, { "uniprot_canonical_ac": "P70605-1", "uniprot_ac": "P70605", "uniprot_id": "KCNN3_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": "Small conductance calcium-activated potassium channel protein 3", "type": "recommended" }, { "name": "KCa2.3", "type": "synonym" }, { "name": "SK3", "type": "synonym" }, { "name": "SKCa 3", "type": "synonym" }, { "name": "SKCa3", "type": "synonym" } ], "gene_names": [ { "name": "Kcnn3", "type": "recommended" } ], "record_id": "P70605-1", "evidence": [ { "id": "0070296", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070296" } ] }, { "uniprot_canonical_ac": "Q9VI72-1", "uniprot_ac": "Q9VI72", "uniprot_id": "Q9VI72_DROME", "refseq_ac": "NP_649701", "glycoprotein": "yes", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "CG10061-PA", "type": "synonym" }, { "name": "DSas-4", "type": "synonym" }, { "name": "Sas-4-PA", "type": "synonym" }, { "name": "Spindle assembly abnormal 4", "type": "synonym" }, { "name": "drosophila Sas-4", "type": "synonym" }, { "name": "spindle assembly abnormal 4 orthologue", "type": "synonym" }, { "name": "spindle assembly abnormal 4 ortholog", "type": "synonym" }, { "name": "spindle assembly abnormal 4", "type": "synonym" } ], "gene_names": [ { "name": "Sas-4", "type": "recommended" }, { "name": "CENPJ", "type": "synonym" }, { "name": "CG10061", "type": "synonym" }, { "name": "CPAP", "type": "synonym" }, { "name": "D-Sas4", "type": "synonym" }, { "name": "D-sas4", "type": "synonym" }, { "name": "DSAS-4", "type": "synonym" }, { "name": "DSas-4", "type": "synonym" }, { "name": "DSas4", "type": "synonym" }, { "name": "DmSas4", "type": "synonym" }, { "name": "Dmel\\CG10061", "type": "synonym" }, { "name": "Dmel_CG10061", "type": "synonym" }, { "name": "Dsas-4", "type": "synonym" }, { "name": "Dsas4", "type": "synonym" }, { "name": "SAS-4", "type": "synonym" }, { "name": "SAS4", "type": "synonym" }, { "name": "Sas-4", "type": "synonym" }, { "name": "Sas4", "type": "synonym" }, { "name": "d-SAS-4", "type": "synonym" }, { "name": "dCPAP", "type": "synonym" }, { "name": "dsas-4", "type": "synonym" }, { "name": "l(3)S2214", "type": "synonym" }, { "name": "l(3)s2214", "type": "synonym" }, { "name": "sas-4", "type": "synonym" }, { "name": "sas4", "type": "synonym" } ], "record_id": "Q9VI72-1", "evidence": [ { "id": "0070296", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070296" } ] }, { "uniprot_canonical_ac": "Q9VC45-1", "uniprot_ac": "Q9VC45", "uniprot_id": "ASP_DROME", "refseq_ac": "NP_524488", "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 abnormal spindle", "type": "recommended" }, { "name": "CG6875-PA", "type": "synonym" }, { "name": "abnormal spindle protein", "type": "synonym" }, { "name": "abnormal spindles", "type": "synonym" }, { "name": "abnormal spindle", "type": "synonym" }, { "name": "asp-PA", "type": "synonym" } ], "gene_names": [ { "name": "asp", "type": "recommended" }, { "name": "ASP", "type": "synonym" }, { "name": "Asp", "type": "synonym" }, { "name": "CG6875", "type": "synonym" }, { "name": "Dm Asp", "type": "synonym" }, { "name": "Dmel\\CG6875", "type": "synonym" }, { "name": "anon-96Aa", "type": "synonym" }, { "name": "anon-WO0118547.279", "type": "synonym" }, { "name": "asp", "type": "synonym" } ], "record_id": "Q9VC45-1", "evidence": [ { "id": "0070296", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070296" } ] }, { "uniprot_canonical_ac": "E1JH39-1", "uniprot_ac": "E1JH39", "uniprot_id": "E1JH39_DROME", "refseq_ac": "NP_001163123", "glycoprotein": "yes", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "CG42572-PD", "type": "synonym" }, { "name": "MCPH1-PD", "type": "synonym" }, { "name": "Microcephalin, isoform D", "type": "synonym" }, { "name": "absent without leave", "type": "synonym" }, { "name": "microcephalin, isoform D", "type": "synonym" }, { "name": "microcephalin", "type": "synonym" } ], "gene_names": [ { "name": "MCPH1", "type": "recommended" }, { "name": "CG13184", "type": "synonym" }, { "name": "CG30038", "type": "synonym" }, { "name": "CG42572", "type": "synonym" }, { "name": "CG8981", "type": "synonym" }, { "name": "Dmcph1", "type": "synonym" }, { "name": "Dmel\\CG42572", "type": "synonym" }, { "name": "Dmel_CG42572", "type": "synonym" }, { "name": "MCPH1", "type": "synonym" }, { "name": "awol", "type": "synonym" }, { "name": "dMCPH1", "type": "synonym" }, { "name": "mcph1", "type": "synonym" }, { "name": "p91", "type": "synonym" } ], "record_id": "E1JH39-1", "evidence": [ { "id": "0070296", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070296" } ] }, { "uniprot_canonical_ac": "M9PB01-1", "uniprot_ac": "M9PB01", "uniprot_id": "M9PB01_DROME", "refseq_ac": "NP_001259886", "glycoprotein": "yes", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "CG7337-PG", "type": "synonym" }, { "name": "WD repeat domain 62, isoform G", "type": "synonym" }, { "name": "Wdr62-PG", "type": "synonym" } ], "gene_names": [ { "name": "Wdr62", "type": "recommended" }, { "name": "CG7337", "type": "synonym" }, { "name": "Dmel\\CG7337", "type": "synonym" }, { "name": "Dmel_CG7337", "type": "synonym" }, { "name": "Q0E8U7_DROME", "type": "synonym" }, { "name": "WDR62", "type": "synonym" }, { "name": "Wdr62", "type": "synonym" }, { "name": "wdr62", "type": "synonym" } ], "record_id": "M9PB01-1", "evidence": [ { "id": "0070296", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070296" } ] }, { "uniprot_canonical_ac": "Q24246-11", "uniprot_ac": "Q24246", "uniprot_id": "DYIN_DROME", "refseq_ac": "NP_001285486", "glycoprotein": "no", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "Cytoplasmic dynein 1 intermediate chain", "type": "recommended" }, { "name": "CG18000-PN", "type": "synonym" }, { "name": "DH IC", "type": "synonym" }, { "name": "Dynein intermediate chain, cytosolic", "type": "synonym" }, { "name": "Protein short wing", "type": "synonym" }, { "name": "cytoplasmic dynein intermediate chain", "type": "synonym" }, { "name": "cytoplasmic dynein intermediate polypeptide chain", "type": "synonym" }, { "name": "cytoplasmic dynein", "type": "synonym" }, { "name": "dynein IC", "type": "synonym" }, { "name": "dynein intermediate chain", "type": "synonym" }, { "name": "dynein intermediate-chain", "type": "synonym" }, { "name": "dynein", "type": "synonym" }, { "name": "short wing, isoform N", "type": "synonym" }, { "name": "sw-PN", "type": "synonym" }, { "name": "swallow", "type": "synonym" } ], "gene_names": [ { "name": "sw", "type": "recommended" }, { "name": "17-234", "type": "synonym" }, { "name": "CG18000", "type": "synonym" }, { "name": "Cdic2b", "type": "synonym" }, { "name": "Cdic", "type": "synonym" }, { "name": "DIC", "type": "synonym" }, { "name": "Dic19B", "type": "synonym" }, { "name": "Dic19C", "type": "synonym" }, { "name": "Dic", "type": "synonym" }, { "name": "Dmel\\CG18000", "type": "synonym" }, { "name": "IC74", "type": "synonym" }, { "name": "IC", "type": "synonym" }, { "name": "cDIC", "type": "synonym" }, { "name": "dic", "type": "synonym" }, { "name": "l(1)19Bb", "type": "synonym" }, { "name": "sw CES", "type": "synonym" }, { "name": "sw", "type": "synonym" } ], "record_id": "Q24246-11", "evidence": [ { "id": "0070296", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070296" } ] }, { "uniprot_canonical_ac": "Q8IRZ3-1", "uniprot_ac": "Q8IRZ3", "uniprot_id": "Q8IRZ3_DROME", "refseq_ac": "NP_001285482", "glycoprotein": "no", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "CG32823-PF", "type": "synonym" }, { "name": "Sdic3-PF", "type": "synonym" }, { "name": "Sdic:CG32823", "type": "synonym" }, { "name": "Sperm-specific dynein intermediate chain 3, isoform E", "type": "synonym" }, { "name": "Sperm-specific dynein intermediate chain 3, isoform F", "type": "synonym" }, { "name": "Sperm-specific dynein intermediate chain 3, isoform G", "type": "synonym" }, { "name": "Sperm-specific dynein intermediate chain A", "type": "synonym" }, { "name": "Sperm-specific dynein intermediate chain B", "type": "synonym" } ], "gene_names": [ { "name": "Sdic3", "type": "recommended" }, { "name": "CG32823", "type": "synonym" }, { "name": "CG46275", "type": "synonym" }, { "name": "CG46276", "type": "synonym" }, { "name": "Dmel\\CG32823", "type": "synonym" }, { "name": "Dmel\\CG46275", "type": "synonym" }, { "name": "Dmel\\CG46276", "type": "synonym" }, { "name": "Dmel_CG32823", "type": "synonym" }, { "name": "Dmel_CG46275", "type": "synonym" }, { "name": "Dmel_CG46276", "type": "synonym" }, { "name": "Sdic3", "type": "synonym" }, { "name": "Sdic:CG32823", "type": "synonym" }, { "name": "SdicA", "type": "synonym" }, { "name": "SdicB", "type": "synonym" }, { "name": "Sdic", "type": "synonym" } ], "record_id": "Q8IRZ3-1", "evidence": [ { "id": "0070296", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070296" } ] }, { "uniprot_canonical_ac": "Q7KWG3-1", "uniprot_ac": "Q7KWG3", "uniprot_id": "Q7KWG3_DROME", "refseq_ac": "NP_001285481", "glycoprotein": "no", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "CG33497-PC", "type": "synonym" }, { "name": "Sdic2-PC", "type": "synonym" }, { "name": "Sdic:CG33497", "type": "synonym" }, { "name": "Sperm-specific dynein intermediate chain 2, isoform A", "type": "synonym" }, { "name": "Sperm-specific dynein intermediate chain 2, isoform C", "type": "synonym" } ], "gene_names": [ { "name": "Sdic2", "type": "recommended" }, { "name": "CG33497", "type": "synonym" }, { "name": "Dmel\\CG33497", "type": "synonym" }, { "name": "Dmel_CG33497", "type": "synonym" }, { "name": "Sdic2", "type": "synonym" }, { "name": "Sdic4", "type": "synonym" }, { "name": "Sdic:CG33497", "type": "synonym" }, { "name": "Sdic:CG33499", "type": "synonym" }, { "name": "Sdic", "type": "synonym" } ], "record_id": "Q7KWG3-1", "evidence": [ { "id": "0070296", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070296" } ] }, { "uniprot_canonical_ac": "Q9W5W4-1", "uniprot_ac": "Q9W5W4", "uniprot_id": "Q9W5W4_DROME", "refseq_ac": "NP_524670", "glycoprotein": "no", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "CG9580-PA", "type": "synonym" }, { "name": "Sdic1-PA", "type": "synonym" }, { "name": "Sdic:CG9580", "type": "synonym" }, { "name": "Sperm-specific dynein intermediate chain 1, isoform A", "type": "synonym" } ], "gene_names": [ { "name": "Sdic1", "type": "recommended" }, { "name": "CG9580", "type": "synonym" }, { "name": "Dmel\\CG9580", "type": "synonym" }, { "name": "Dmel_CG9580", "type": "synonym" }, { "name": "Sdic1", "type": "synonym" }, { "name": "Sdic:CG9580", "type": "synonym" }, { "name": "Sdic", "type": "synonym" } ], "record_id": "Q9W5W4-1", "evidence": [ { "id": "0070296", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070296" } ] }, { "uniprot_canonical_ac": "Q13409-1", "uniprot_ac": "Q13409", "uniprot_id": "DC1I2_HUMAN", "refseq_ac": "NP_001258714", "glycoprotein": "yes", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "Cytoplasmic dynein 1 intermediate chain 2", "type": "recommended" }, { "name": "Cytoplasmic dynein intermediate chain 2", "type": "synonym" }, { "name": "DH IC-2", "type": "synonym" }, { "name": "Dynein intermediate chain 2, cytosolic", "type": "synonym" }, { "name": "cytoplasmic dynein 1 intermediate chain 2 isoform 1", "type": "synonym" }, { "name": "dynein intermediate chain 2, cytosolic", "type": "synonym" }, { "name": "dynein, cytoplasmic, intermediate polypeptide 2", "type": "synonym" }, { "name": "testis tissue sperm-binding protein Li 66n", "type": "synonym" } ], "gene_names": [ { "name": "DYNC1I2", "type": "recommended" }, { "name": "DIC74", "type": "synonym" }, { "name": "DNCI2", "type": "synonym" }, { "name": "DNCIC2", "type": "synonym" }, { "name": "DYNC1I2", "type": "synonym" }, { "name": "IC2", "type": "synonym" }, { "name": "NEDMIBA", "type": "synonym" } ], "record_id": "Q13409-1", "evidence": [ { "id": "0070296", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070296" } ] }, { "uniprot_canonical_ac": "O43379-1", "uniprot_ac": "O43379", "uniprot_id": "WDR62_HUMAN", "refseq_ac": "NP_001077430", "glycoprotein": "yes", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "WD repeat-containing protein 62", "type": "recommended" }, { "name": "WD repeat-containing protein 62 isoform 1", "type": "synonym" }, { "name": "WD repeat-containing protein 62", "type": "synonym" }, { "name": "microcephaly, primary autosomal recessive 2", "type": "synonym" } ], "gene_names": [ { "name": "WDR62", "type": "recommended" }, { "name": "C19orf14", "type": "synonym" }, { "name": "MCPH2", "type": "synonym" }, { "name": "WDR62", "type": "synonym" } ], "record_id": "O43379-1", "evidence": [ { "id": "0070296", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070296" } ] }, { "uniprot_canonical_ac": "Q8NG31-1", "uniprot_ac": "Q8NG31", "uniprot_id": "KNL1_HUMAN", "refseq_ac": "NP_653091", "glycoprotein": "yes", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "Outer kinetochore KNL1 complex subunit KNL1", "type": "recommended" }, { "name": "AF15q14", "type": "synonym" }, { "name": "ALL1-fused gene from chromosome 15q14 protein", "type": "synonym" }, { "name": "Blinkin", "type": "synonym" }, { "name": "Bub-linking kinetochore protein", "type": "synonym" }, { "name": "CT29", "type": "synonym" }, { "name": "Cancer susceptibility candidate gene 5 protein", "type": "synonym" }, { "name": "Cancer/testis antigen 29", "type": "synonym" }, { "name": "Kinetochore scaffold 1", "type": "synonym" }, { "name": "Kinetochore-null protein 1", "type": "synonym" }, { "name": "Protein CASC5", "type": "synonym" }, { "name": "Protein D40/AF15q14", "type": "synonym" }, { "name": "blinkin, bub-linking kinetochore protein", "type": "synonym" }, { "name": "cancer susceptibility candidate 5", "type": "synonym" }, { "name": "cancer susceptibility candidate gene 5 protein", "type": "synonym" }, { "name": "cancer/testis antigen 29", "type": "synonym" }, { "name": "kinetochore null 1 homolog", "type": "synonym" }, { "name": "kinetochore-null protein 1", "type": "synonym" }, { "name": "microcephaly, primary autosomal recessive 4", "type": "synonym" }, { "name": "outer kinetochore KNL1 complex subunit KNL1 isoform 2", "type": "synonym" }, { "name": "outer kinetochore KNL1 complex subunit KNL1", "type": "synonym" }, { "name": "protein phosphatase 1, regulatory subunit 55", "type": "synonym" } ], "gene_names": [ { "name": "KNL1", "type": "recommended" }, { "name": "AF15Q14", "type": "synonym" }, { "name": "CASC5", "type": "synonym" }, { "name": "CT29", "type": "synonym" }, { "name": "D40", "type": "synonym" }, { "name": "KIAA1570", "type": "synonym" }, { "name": "KNL1", "type": "synonym" }, { "name": "MCPH4", "type": "synonym" }, { "name": "PPP1R55", "type": "synonym" }, { "name": "Spc7", "type": "synonym" }, { "name": "hKNL-1", "type": "synonym" }, { "name": "hSpc105", "type": "synonym" } ], "record_id": "Q8NG31-1", "evidence": [ { "id": "0070296", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070296" } ] }, { "uniprot_canonical_ac": "Q8NEM0-1", "uniprot_ac": "Q8NEM0", "uniprot_id": "MCPH1_HUMAN", "refseq_ac": "NP_001166046", "glycoprotein": "no", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "Microcephalin", "type": "recommended" }, { "name": "BRCT-repeat inhibitor of TERT expression 1", "type": "synonym" }, { "name": "microcephalin isoform 3", "type": "synonym" } ], "gene_names": [ { "name": "MCPH1", "type": "recommended" }, { "name": "BRIT1", "type": "synonym" }, { "name": "MCPH1", "type": "synonym" }, { "name": "MCT", "type": "synonym" } ], "record_id": "Q8NEM0-1", "evidence": [ { "id": "0070296", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070296" } ] }, { "uniprot_canonical_ac": "Q8IZT6-1", "uniprot_ac": "Q8IZT6", "uniprot_id": "ASPM_HUMAN", "refseq_ac": "NP_001193775", "glycoprotein": "yes", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "Abnormal spindle-like microcephaly-associated protein", "type": "recommended" }, { "name": "Abnormal spindle protein homolog", "type": "synonym" }, { "name": "Asp homolog", "type": "synonym" }, { "name": "abnormal spindle microtubule assembly", "type": "synonym" }, { "name": "abnormal spindle-like microcephaly-associated protein isoform 2", "type": "synonym" }, { "name": "abnormal spindle-like microcephaly-associated protein", "type": "synonym" }, { "name": "asp (abnormal spindle) homolog, microcephaly associated", "type": "synonym" } ], "gene_names": [ { "name": "ASPM", "type": "recommended" }, { "name": "ASPM", "type": "synonym" }, { "name": "ASP", "type": "synonym" }, { "name": "Calmbp1", "type": "synonym" }, { "name": "MCPH5", "type": "synonym" } ], "record_id": "Q8IZT6-1", "evidence": [ { "id": "0070296", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070296" } ] }, { "uniprot_canonical_ac": "Q9HC77-1", "uniprot_ac": "Q9HC77", "uniprot_id": "CPAP_HUMAN", "refseq_ac": "NP_060921", "glycoprotein": "yes", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "Centrosomal P4.1-associated protein", "type": "recommended" }, { "name": "CENP-J", "type": "synonym" }, { "name": "Centromere protein J", "type": "synonym" }, { "name": "Centrosome assembly and centriole elongation protein", "type": "synonym" }, { "name": "LAG-3-associated protein", "type": "synonym" }, { "name": "LYST-interacting protein 1", "type": "synonym" }, { "name": "LYST-interacting protein LIP1", "type": "synonym" }, { "name": "LYST-interacting protein LIP7", "type": "synonym" }, { "name": "Spindle assembly abnormal 4", "type": "synonym" }, { "name": "centromere protein J", "type": "synonym" }, { "name": "centrosomal P4.1-associated protein", "type": "synonym" } ], "gene_names": [ { "name": "CPAP", "type": "recommended" }, { "name": "BM032", "type": "synonym" }, { "name": "CENP-J", "type": "synonym" }, { "name": "CENPJ", "type": "synonym" }, { "name": "CPAP", "type": "synonym" }, { "name": "LAP", "type": "synonym" }, { "name": "LIP1", "type": "synonym" }, { "name": "MCPH6", "type": "synonym" }, { "name": "SASS4", "type": "synonym" }, { "name": "SCKL4", "type": "synonym" }, { "name": "Sas-4", "type": "synonym" } ], "record_id": "Q9HC77-1", "evidence": [ { "id": "0070296", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070296" } ] } ], "glycans": [], "biomarkers": [], "association_flag": "1000", "record_id": "doid.0070296" }