{ "disease_id": "DOID:0060308", "recommended_name": { "id": "DOID:0060308", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0060308", "name": "autosomal recessive intellectual developmental disorder", "description": "A intellectual disability characterized by an autosomal recessive inheritance pattern." }, "synonyms": [ { "id": "DOID:0060308", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0060308", "name": "autosomal recessive non-syndromic mental retardation", "description": "" }, { "id": "DOID:0060308", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0060308", "name": "autosomal recessive mental retardation", "description": "" }, { "id": "MONDO:0009580", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009580", "name": "intellectual disability, autosomal recessive 1", "description": "Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the PRSS12 gene." }, { "id": "MONDO:0009580", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009580", "name": "PRSS12 autosomal recessive non-syndromic intellectual disability", "description": "" }, { "id": "MONDO:0009580", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009580", "name": "autosomal recessive non-syndromic intellectual disability caused by mutation in PRSS12", "description": "" }, { "id": "MONDO:0009580", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009580", "name": "intellectual disability, autosomal recessive 1", "description": "" }, { "id": "MONDO:0009580", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009580", "name": "intellectual disability, autosomal recessive type 1", "description": "" }, { "id": "MONDO:0009580", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009580", "name": "mental retardation, autosomal recessive type 1", "description": "" }, { "id": "MONDO:0009580", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009580", "name": "MRT1", "description": "" }, { "id": "MONDO:0009580", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009580", "name": "mental retardation, autosomal recessive 1", "description": "" }, { "id": "MIM:249500", "resource": "MIM", "url": "https://www.omim.org/entry/249500", "name": "Intellectual developmental disorder, autosomal recessive 1", "description": "Intellectual developmental disorder, autosomal recessive 1" } ], "children": [ { "id": "DOID:0051030", "label": "neurodevelopmental disorder with microcephaly, absent speech, and hypotonia", "link_status": true, "children": [] }, { "id": "DOID:0051076", "label": "neurodevelopmental disorder with parkinsonism or other movement abnormalities", "link_status": true, "children": [] }, { "id": "DOID:0060934", "label": "neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy", "link_status": true, "children": [] }, { "id": "DOID:0060935", "label": "infantile hypotonia with psychomotor retardation and characteristic facies-3", "link_status": true, "children": [] }, { "id": "DOID:0060947", "label": "autosomal recessive intellectual developmental disorder 82", "link_status": true, "children": [] }, { "id": "DOID:0061114", "label": "autosomal recessive intellectual developmental disorder 83", "link_status": true, "children": [] }, { "id": "DOID:0061126", "label": "Brunet-Wagner neurodevelopmental syndrome", "link_status": true, "children": [] }, { "id": "DOID:0061158", "label": "Kariminejad neurodevelopmental syndrome", "link_status": true, "children": [] }, { "id": "DOID:0061252", "label": "neurodevelopmental disorder with hypotonia, epilepsy, and absent speech", "link_status": true, "children": [] }, { "id": "DOID:0070421", "label": "neurodevelopmental disorder with spasticity and poor growth", "link_status": true, "children": [] }, { "id": "DOID:0070423", "label": "early onset progressive encephalopathy with brain atrophy and thin corpus callosum", "link_status": true, "children": [] }, { "id": "DOID:0070431", "label": "hyperphosphatasia with impaired intellectual development syndrome", "link_status": true, "children": [ { "id": "DOID:0070432", "label": "hyperphosphatasia with impaired intellectual development syndrome 5", "link_status": true, "children": [] }, { "id": "DOID:0070433", "label": "hyperphosphatasia with impaired intellectual development syndrome 1", "link_status": true, "children": [] }, { "id": "DOID:0070434", "label": "hyperphosphatasia with impaired intellectual development syndrome 2", "link_status": true, "children": [] }, { "id": "DOID:0070435", "label": "hyperphosphatasia with impaired intellectual development syndrome 3", "link_status": true, "children": [] }, { "id": "DOID:0070436", "label": "hyperphosphatasia with impaired intellectual development syndrome 4", "link_status": true, "children": [] }, { "id": "DOID:0070437", "label": "hyperphosphatasia with impaired intellectual development syndrome 6", "link_status": true, "children": [] } ] }, { "id": "DOID:0070443", "label": "neurodevelopmental disorder with cerebellar atrophy and motor dysfunction", "link_status": true, "children": [] }, { "id": "DOID:0070444", "label": "neurodevelopmental disorder with language delay and seizures", "link_status": true, "children": [] }, { "id": "DOID:0070537", "label": "spastic tetraplegia, thin corpus callosum, and progressive microcephaly", "link_status": true, "children": [] }, { "id": "DOID:0070542", "label": "neurodevelopmental disorder with spastic paraplegia and microcephaly", "link_status": true, "children": [] }, { "id": "DOID:0070696", "label": "neurodevelopmental disorder with seizures, hypotonia, and variable spasticity", "link_status": true, "children": [] }, { "id": "DOID:0070697", "label": "neurodevelopmental disorder with spasticity, thin corpus callosum, and decreased brain white matter", "link_status": true, "children": [] }, { "id": "DOID:0070712", "label": "developmental delay with variable cardiac and renal congenital anomalies and dysmorphic facies", "link_status": true, "children": [] }, { "id": "DOID:0070738", "label": "Al Kaissi syndrome", "link_status": true, "children": [] }, { "id": "DOID:0070739", "label": "autosomal recessive neurodevelopmental disorder with or without hyperkinetic movements and seizures", "link_status": true, "children": [] }, { "id": "DOID:0070740", "label": "cerebellar atrophy, developmental delay, and seizures", "link_status": true, "children": [] }, { "id": "DOID:0070741", "label": "cerebellar atrophy with seizures and variable developmental delay", "link_status": true, "children": [] }, { "id": "DOID:0070745", "label": "early-onset progressive encephalopathy with brain atrophy and spasticity", "link_status": true, "children": [] }, { "id": "DOID:0070751", "label": "mitochondrial neurodevelopmental disorder with abnormal movements and lactic acidosis, with or without seizures", "link_status": true, "children": [] }, { "id": "DOID:0070754", "label": "neurodevelopmental disorder with microcephaly, ataxia, and seizures", "link_status": true, "children": [] }, { "id": "DOID:0070755", "label": "neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy", "link_status": true, "children": [] }, { "id": "DOID:0080239", "label": "autosomal recessive intellectual developmental disorder 61", "link_status": true, "children": [] }, { "id": "DOID:0080765", "label": "autosomal recessive intellectual developmental disorder 72", "link_status": true, "children": [] }, { "id": "DOID:0081097", "label": "Rafiq syndrome", "link_status": true, "children": [] }, { "id": "DOID:0081098", "label": "autosomal recessive intellectual developmental disorder 13", "link_status": true, "children": [] }, { "id": "DOID:0081099", "label": "neurodevelopmental disorder with brain abnormalities, poor growth, and dysmorphic facies", "link_status": true, "children": [] }, { "id": "DOID:0081177", "label": "autosomal recessive intellectual developmental disorder 1", "link_status": true, "children": [] }, { "id": "DOID:0081178", "label": "autosomal recessive intellectual developmental disorder 2", "link_status": true, "children": [] }, { "id": "DOID:0081179", "label": "autosomal recessive intellectual developmental disorder 3", "link_status": true, "children": [] }, { "id": "DOID:0081180", "label": "autosomal recessive intellectual developmental disorder 12", "link_status": true, "children": [] }, { "id": "DOID:0081181", "label": "autosomal recessive intellectual developmental disorder 5", "link_status": true, "children": [] }, { "id": "DOID:0081182", "label": "autosomal recessive intellectual developmental disorder 6", "link_status": true, "children": [] }, { "id": "DOID:0081183", "label": "autosomal recessive intellectual developmental disorder 7", "link_status": true, "children": [] }, { "id": "DOID:0081188", "label": "autosomal recessive intellectual developmental disorder 14", "link_status": true, "children": [] }, { "id": "DOID:0081190", "label": "autosomal recessive intellectual developmental disorder 18", "link_status": true, "children": [] }, { "id": "DOID:0081193", "label": "autosomal recessive intellectual developmental disorder 27", "link_status": true, "children": [] }, { "id": "DOID:0081200", "label": "autosomal recessive intellectual developmental disorder 34", "link_status": true, "children": [] }, { "id": "DOID:0081202", "label": "autosomal recessive intellectual developmental disorder 37", "link_status": true, "children": [] }, { "id": "DOID:0081203", "label": "autosomal recessive intellectual developmental disorder 38", "link_status": true, "children": [] }, { "id": "DOID:0081204", "label": "autosomal recessive intellectual developmental disorder 39", "link_status": true, "children": [] }, { "id": "DOID:0081205", "label": "autosomal recessive intellectual developmental disorder 40", "link_status": true, "children": [] }, { "id": "DOID:0081206", "label": "autosomal recessive intellectual developmental disorder 41", "link_status": true, "children": [] }, { "id": "DOID:0081207", "label": "autosomal recessive intellectual developmental disorder 43", "link_status": true, "children": [] }, { "id": "DOID:0081208", "label": "autosomal recessive intellectual developmental disorder 44", "link_status": true, "children": [] }, { "id": "DOID:0081209", "label": "autosomal recessive intellectual developmental disorder 45", "link_status": true, "children": [] }, { "id": "DOID:0081210", "label": "autosomal recessive intellectual developmental disorder 46", "link_status": true, "children": [] }, { "id": "DOID:0081211", "label": "autosomal recessive intellectual developmental disorder 47", "link_status": true, "children": [] }, { "id": "DOID:0081212", "label": "autosomal recessive intellectual developmental disorder 48", "link_status": true, "children": [] }, { "id": "DOID:0081213", "label": "autosomal recessive intellectual developmental disorder 50", "link_status": true, "children": [] }, { "id": "DOID:0081214", "label": "autosomal recessive intellectual developmental disorder 51", "link_status": true, "children": [] }, { "id": "DOID:0081215", "label": "autosomal recessive intellectual developmental disorder 52", "link_status": true, "children": [] }, { "id": "DOID:0081216", "label": "autosomal recessive intellectual developmental disorder 54", "link_status": true, "children": [] }, { "id": "DOID:0081217", "label": "autosomal recessive intellectual developmental disorder 56", "link_status": true, "children": [] }, { "id": "DOID:0081218", "label": "autosomal recessive intellectual developmental disorder 74", "link_status": true, "children": [] }, { "id": "DOID:0081219", "label": "autosomal recessive intellectual developmental disorder 57", "link_status": true, "children": [] }, { "id": "DOID:0081220", "label": "autosomal recessive intellectual developmental disorder 58", "link_status": true, "children": [] }, { "id": "DOID:0081221", "label": "autosomal recessive intellectual developmental disorder 59", "link_status": true, "children": [] }, { "id": "DOID:0081222", "label": "autosomal recessive intellectual developmental disorder 60", "link_status": true, "children": [] }, { "id": "DOID:0081223", "label": "glycosylphosphatidylinositol biosynthesis defect 16", "link_status": true, "children": [] }, { "id": "DOID:0081224", "label": "autosomal recessive intellectual developmental disorder 63", "link_status": true, "children": [] }, { "id": "DOID:0081225", "label": "autosomal recessive intellectual developmental disorder 64", "link_status": true, "children": [] }, { "id": "DOID:0081226", "label": "autosomal recessive intellectual developmental disorder 65", "link_status": true, "children": [] }, { "id": "DOID:0081227", "label": "autosomal recessive intellectual developmental disorder 66", "link_status": true, "children": [] }, { "id": "DOID:0081228", "label": "autosomal recessive intellectual developmental disorder 67", "link_status": true, "children": [] }, { "id": "DOID:0081229", "label": "autosomal recessive intellectual developmental disorder 68", "link_status": true, "children": [] }, { "id": "DOID:0081230", "label": "autosomal recessive intellectual developmental disorder 69", "link_status": true, "children": [] }, { "id": "DOID:0081231", "label": "autosomal recessive intellectual developmental disorder 70", "link_status": true, "children": [] }, { "id": "DOID:0081232", "label": "autosomal recessive intellectual developmental disorder 71", "link_status": true, "children": [] }, { "id": "DOID:0081233", "label": "autosomal recessive intellectual developmental disorder 73", "link_status": true, "children": [] }, { "id": "DOID:0081234", "label": "autosomal recessive intellectual developmental disorder 75", "link_status": true, "children": [] }, { "id": "DOID:0081235", "label": "autosomal recessive intellectual developmental disorder 76", "link_status": true, "children": [] }, { "id": "DOID:0081236", "label": "autosomal recessive intellectual developmental disorder 77", "link_status": true, "children": [] }, { "id": "DOID:0081263", "label": "neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities", "link_status": true, "children": [] }, { "id": "DOID:0081265", "label": "intellectual developmental disorder with abnormal behavior, microcephaly, and short stature", "link_status": true, "children": [] }, { "id": "DOID:0081324", "label": "neurodevelopmental disorder with poor growth, spastic tetraplegia, and hearing loss", "link_status": true, "children": [] }, { "id": "DOID:0081387", "label": "neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalities", "link_status": true, "children": [] }, { "id": "DOID:0081444", "label": "neurodevelopmental disorder with poor growth and behavioral abnormalities", "link_status": true, "children": [] } ], "id_list": [ "DOID:0081098", "DOID:0081179", "DOID:0081224", "DOID:0080239", "DOID:0081188", "DOID:0070436", "DOID:0081208", "DOID:0081218", "DOID:0081210", "DOID:0081229", "DOID:0081263", "DOID:0070421", "DOID:0081228", "DOID:0081225", "DOID:0081234", "DOID:0070537", "DOID:0081223", "DOID:0070423", "DOID:0070434", "DOID:0070437", "DOID:0070435", "DOID:0081232", "DOID:0060947", "DOID:0070696", "DOID:0081214", "DOID:0070755", "DOID:0081200", "DOID:0070738", "DOID:0070741", "DOID:0080765", "DOID:0081182", "DOID:0060935", "DOID:0081183", "DOID:0081190", "DOID:0081265", "DOID:0081099", "DOID:0081177", "DOID:0081206", "DOID:0081226", "DOID:0081211", "DOID:0070431", "DOID:0070712", "DOID:0081222", "DOID:0060934", "DOID:0070751", "DOID:0081203", "DOID:0081178", "DOID:0081324", "DOID:0060308", "DOID:0061158", "DOID:0081097", "DOID:0081215", "DOID:0081180", "DOID:0081444", "DOID:0081213", "DOID:0070754", "DOID:0070433", "DOID:0081204", "DOID:0081230", "DOID:0081212", "DOID:0070443", "DOID:0081207", "DOID:0081236", "DOID:0081205", "DOID:0081387", "DOID:0070739", "DOID:0081181", "DOID:0081235", "DOID:0081209", "DOID:0081231", "DOID:0061114", "DOID:0081217", "DOID:0070432", "DOID:0070542", "DOID:0081216", "DOID:0070444", "DOID:0081202", "DOID:0070740", "DOID:0051076", "DOID:0081221", "DOID:0081220", "DOID:0081227", "DOID:0061252", "DOID:0081193", "DOID:0051030", "DOID:0070697", "DOID:0081233", "DOID:0070745", "DOID:0081219", "DOID:0061126" ], "unlinked_id_list": [], "crossref": [ { "id": "DOID:0060308", "database": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0060308", "categories": [] }, { "id": "MONDO:0009580", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009580", "categories": [] }, { "id": "MIM:249500", "database": "MIM", "url": "https://www.omim.org/entry/249500", "categories": [] } ], "proteins": [ { "uniprot_canonical_ac": "E7F8F4-1", "uniprot_ac": "E7F8F4", "uniprot_id": "ASCC3_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": "Activating signal cointegrator 1 complex subunit 3", "type": "recommended" }, { "name": "5.6.2.4", "type": "synonym" } ], "gene_names": [ { "name": "ascc3", "type": "recommended" } ], "record_id": "E7F8F4-1", "evidence": [ { "id": "0060308", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060308" } ] }, { "uniprot_canonical_ac": "Q5RI09-1", "uniprot_ac": "Q5RI09", "uniprot_id": "Q5RI09_DANRE", "refseq_ac": "NP_001025294", "glycoprotein": "yes", "species": [ { "name": "Danio rerio", "taxid": 7955, "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "protein_names": [ { "name": "Nucleoprotein TPR", "type": "recommended" }, { "name": "NPC-associated intranuclear protein", "type": "synonym" }, { "name": "translocated promoter region (to activated MET oncogene)", "type": "synonym" }, { "name": "translocated promoter region b (to activated MET oncogene)", "type": "synonym" }, { "name": "translocated promoter region b, nuclear basket protein", "type": "synonym" } ], "gene_names": [ { "name": "tprb", "type": "recommended" }, { "name": "si:dkey-97o5.5", "type": "synonym" }, { "name": "tprb", "type": "synonym" }, { "name": "tpr", "type": "synonym" }, { "name": "wu:fi76g05", "type": "synonym" } ], "record_id": "Q5RI09-1", "evidence": [ { "id": "0060308", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060308" } ] }, { "uniprot_canonical_ac": "A0A8M3AQ68-1", "uniprot_ac": "A0A8M3AQ68", "uniprot_id": "A0A8M3AQ68_DANRE", "refseq_ac": "XP_009296772", "glycoprotein": "yes", "species": [ { "name": "Danio rerio", "taxid": 7955, "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "protein_names": [ { "name": "Nucleoprotein TPR", "type": "recommended" }, { "name": "NPC-associated intranuclear protein", "type": "synonym" }, { "name": "nucleoprotein TPR isoform X1", "type": "synonym" } ], "gene_names": [ { "name": "tpra", "type": "recommended" }, { "name": "tpra", "type": "synonym" } ], "record_id": "A0A8M3AQ68-1", "evidence": [ { "id": "0060308", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060308" } ] }, { "uniprot_canonical_ac": "F1QEB7-1", "uniprot_ac": "F1QEB7", "uniprot_id": "WDR11_DANRE", "refseq_ac": "NP_001410892", "glycoprotein": "no", "species": [ { "name": "Danio rerio", "taxid": 7955, "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "protein_names": [ { "name": "WD repeat-containing protein 11", "type": "recommended" }, { "name": "WD repeat-containing protein 11", "type": "synonym" } ], "gene_names": [ { "name": "wdr11", "type": "recommended" }, { "name": "si:ch211-233m11.6", "type": "synonym" }, { "name": "wdr11", "type": "synonym" } ], "record_id": "F1QEB7-1", "evidence": [ { "id": "0060308", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060308" } ] }, { "uniprot_canonical_ac": "A0A8N7TDM7-1", "uniprot_ac": "A0A8N7TDM7", "uniprot_id": "A0A8N7TDM7_DANRE", "refseq_ac": "XP_694580", "glycoprotein": "no", "species": [ { "name": "Danio rerio", "taxid": 7955, "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "protein_names": [ { "name": "Contactin-associated protein 1", "type": "synonym" }, { "name": "contactin-associated protein 1", "type": "synonym" } ], "gene_names": [ { "name": "cntnap1", "type": "recommended" }, { "name": "cntnap1", "type": "synonym" } ], "record_id": "A0A8N7TDM7-1", "evidence": [ { "id": "0060308", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060308" } ] }, { "uniprot_canonical_ac": "A0A8M2B1Z8-1", "uniprot_ac": "A0A8M2B1Z8", "uniprot_id": "A0A8M2B1Z8_DANRE", "refseq_ac": "XP_005155581", "glycoprotein": "yes", "species": [ { "name": "Danio rerio", "taxid": 7955, "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "protein_names": [ { "name": "Contactin-associated protein-like 4 isoform X1", "type": "synonym" }, { "name": "contactin-associated protein-like 4 isoform X1", "type": "synonym" } ], "gene_names": [ { "name": "cntnap3", "type": "recommended" }, { "name": "cntnap3", "type": "synonym" } ], "record_id": "A0A8M2B1Z8-1", "evidence": [ { "id": "0060308", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060308" } ] }, { "uniprot_canonical_ac": "A0AB32TGU6-1", "uniprot_ac": "A0AB32TGU6", "uniprot_id": "A0AB32TGU6_DANRE", "refseq_ac": "XP_068073187", "glycoprotein": "yes", "species": [ { "name": "Danio rerio", "taxid": 7955, "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "protein_names": [ { "name": "Contactin-associated protein-like 2a isoform X2", "type": "synonym" }, { "name": "contactin-associated protein-like 2a isoform X2", "type": "synonym" } ], "gene_names": [ { "name": "cntnap2a", "type": "recommended" }, { "name": "Caspr2a", "type": "synonym" }, { "name": "cntnap2a", "type": "synonym" } ], "record_id": "A0AB32TGU6-1", "evidence": [ { "id": "0060308", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060308" } ] }, { "uniprot_canonical_ac": "A0A8M3AUM4-1", "uniprot_ac": "A0A8M3AUM4", "uniprot_id": "A0A8M3AUM4_DANRE", "refseq_ac": "XP_009294485", "glycoprotein": "no", "species": [ { "name": "Danio rerio", "taxid": 7955, "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "protein_names": [ { "name": "Contactin-associated protein-like 5 isoform X1", "type": "synonym" }, { "name": "contactin-associated protein-like 5 isoform X1", "type": "synonym" } ], "gene_names": [ { "name": "cntnap5b", "type": "recommended" }, { "name": "cntnap5b", "type": "synonym" } ], "record_id": "A0A8M3AUM4-1", "evidence": [ { "id": "0060308", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060308" } ] }, { "uniprot_canonical_ac": "Q68EH9-1", "uniprot_ac": "Q68EH9", "uniprot_id": "CRBN_DANRE", "refseq_ac": "NP_001003996", "glycoprotein": "no", "species": [ { "name": "Danio rerio", "taxid": 7955, "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "protein_names": [ { "name": "Protein cereblon", "type": "recommended" }, { "name": "protein cereblon", "type": "synonym" }, { "name": "zcrbn", "type": "synonym" } ], "gene_names": [ { "name": "crbn", "type": "recommended" }, { "name": "crbn", "type": "synonym" }, { "name": "zgc:92404", "type": "synonym" } ], "record_id": "Q68EH9-1", "evidence": [ { "id": "0060308", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060308" } ] }, { "uniprot_canonical_ac": "A0A8M3AW13-1", "uniprot_ac": "A0A8M3AW13", "uniprot_id": "A0A8M3AW13_DANRE", "refseq_ac": "XP_009302955", "glycoprotein": "yes", "species": [ { "name": "Danio rerio", "taxid": 7955, "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "protein_names": [ { "name": "Contactin-associated protein-like 5 isoform X1", "type": "synonym" }, { "name": "contactin-associated protein-like 5 isoform X1", "type": "synonym" } ], "gene_names": [ { "name": "cntnap5a", "type": "recommended" }, { "name": "cntnap5a", "type": "synonym" } ], "record_id": "A0A8M3AW13-1", "evidence": [ { "id": "0060308", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060308" } ] }, { "uniprot_canonical_ac": "Q5TYQ8-1", "uniprot_ac": "Q5TYQ8", "uniprot_id": "ZC3HE_DANRE", "refseq_ac": "NP_001020695", "glycoprotein": "no", "species": [ { "name": "Danio rerio", "taxid": 7955, "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "protein_names": [ { "name": "Zinc finger CCCH domain-containing protein 14", "type": "recommended" }, { "name": "zinc finger CCCH domain-containing protein 14", "type": "synonym" } ], "gene_names": [ { "name": "zc3h14", "type": "recommended" }, { "name": "si:dkey-199i12.4", "type": "synonym" }, { "name": "zc3h14", "type": "synonym" }, { "name": "zgc:136266", "type": "synonym" } ], "record_id": "Q5TYQ8-1", "evidence": [ { "id": "0060308", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060308" } ] }, { "uniprot_canonical_ac": "Q8C7D2-1", "uniprot_ac": "Q8C7D2", "uniprot_id": "CRBN_MOUSE", "refseq_ac": "NP_067424", "glycoprotein": "yes", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Protein cereblon", "type": "recommended" }, { "name": "Protein PiL", "type": "synonym" }, { "name": "novel lethal", "type": "synonym" }, { "name": "protein PiL", "type": "synonym" }, { "name": "protein cereblon isoform 1", "type": "synonym" }, { "name": "protein cereblon", "type": "synonym" } ], "gene_names": [ { "name": "Crbn", "type": "recommended" }, { "name": "2610203G15Rik", "type": "synonym" }, { "name": "2900045O07Rik", "type": "synonym" }, { "name": "Crbn", "type": "synonym" }, { "name": "piL", "type": "synonym" } ], "record_id": "Q8C7D2-1", "evidence": [ { "id": "0060308", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060308" } ] }, { "uniprot_canonical_ac": "P29594-1", "uniprot_ac": "P29594", "uniprot_id": "CASP2_MOUSE", "refseq_ac": "NP_031636", "glycoprotein": "no", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Caspase-2", "type": "recommended" }, { "name": "3.4.22.55", "type": "synonym" }, { "name": "CASP-2", "type": "synonym" }, { "name": "NEDD-2", "type": "synonym" }, { "name": "Neural precursor cell expressed developmentally down-regulated protein 2", "type": "synonym" }, { "name": "Protease ICH-1", "type": "synonym" }, { "name": "caspase-2 isoform 1 precursor", "type": "synonym" }, { "name": "neural precursor cell expressed developmentally down-regulated protein 2", "type": "synonym" }, { "name": "protease ICH-1", "type": "synonym" } ], "gene_names": [ { "name": "Casp2", "type": "recommended" }, { "name": "CASP-2", "type": "synonym" }, { "name": "Casp2", "type": "synonym" }, { "name": "ICH-1", "type": "synonym" }, { "name": "Ich1", "type": "synonym" }, { "name": "NEDD-2", "type": "synonym" }, { "name": "Nedd-2", "type": "synonym" }, { "name": "Nedd2", "type": "synonym" } ], "record_id": "P29594-1", "evidence": [ { "id": "0060308", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060308" } ] }, { "uniprot_canonical_ac": "E9PZJ8-1", "uniprot_ac": "E9PZJ8", "uniprot_id": "ASCC3_MOUSE", "refseq_ac": "NP_932124", "glycoprotein": "yes", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Activating signal cointegrator 1 complex subunit 3", "type": "recommended" }, { "name": "5.6.2.4", "type": "synonym" }, { "name": "activating signal cointegrator 1 complex subunit 3", "type": "synonym" }, { "name": "helicase, ATP binding 1", "type": "synonym" } ], "gene_names": [ { "name": "Ascc3", "type": "recommended" }, { "name": "ASC1p200", "type": "synonym" }, { "name": "Ascc3", "type": "synonym" }, { "name": "B630009I04Rik", "type": "synonym" }, { "name": "D430001L07Rik", "type": "synonym" }, { "name": "D630041L21", "type": "synonym" }, { "name": "Helic1", "type": "synonym" }, { "name": "RNAH", "type": "synonym" } ], "record_id": "E9PZJ8-1", "evidence": [ { "id": "0060308", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060308" } ] }, { "uniprot_canonical_ac": "Q8K1X1-1", "uniprot_ac": "Q8K1X1", "uniprot_id": "WDR11_MOUSE", "refseq_ac": "NP_758459", "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 11", "type": "recommended" }, { "name": "Bromodomain and WD repeat-containing protein 2", "type": "synonym" }, { "name": "WD repeat-containing protein 11", "type": "synonym" }, { "name": "bromodomain and WD repeat domain containing 2", "type": "synonym" }, { "name": "bromodomain and WD repeat-containing protein 2", "type": "synonym" } ], "gene_names": [ { "name": "Wdr11", "type": "recommended" }, { "name": "2900055P10Rik", "type": "synonym" }, { "name": "Brwd2", "type": "synonym" }, { "name": "Kiaa1351", "type": "synonym" }, { "name": "Wdr11", "type": "synonym" }, { "name": "mKIAA1351", "type": "synonym" } ], "record_id": "Q8K1X1-1", "evidence": [ { "id": "0060308", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060308" } ] }, { "uniprot_canonical_ac": "F6ZDS4-1", "uniprot_ac": "F6ZDS4", "uniprot_id": "TPR_MOUSE", "refseq_ac": "NP_598541", "glycoprotein": "yes", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Nucleoprotein TPR", "type": "recommended" }, { "name": "NPC-associated intranuclear protein", "type": "synonym" }, { "name": "Translocated promoter region and nuclear basket protein", "type": "synonym" }, { "name": "nuclear pore complex-associated protein Tpr", "type": "synonym" }, { "name": "nucleoprotein TPR", "type": "synonym" }, { "name": "translocated promoter region and nuclear basket protein", "type": "synonym" } ], "gene_names": [ { "name": "Tpr", "type": "recommended" }, { "name": "2610029M07Rik", "type": "synonym" }, { "name": "Tpr", "type": "synonym" } ], "record_id": "F6ZDS4-1", "evidence": [ { "id": "0060308", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060308" } ] }, { "uniprot_canonical_ac": "Q0V8T7-1", "uniprot_ac": "Q0V8T7", "uniprot_id": "CTP5C_MOUSE", "refseq_ac": "NP_001075122", "glycoprotein": "yes", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Contactin-associated protein like 5-3", "type": "recommended" }, { "name": "Cell recognition molecule Caspr5-3", "type": "synonym" }, { "name": "Cell recognition molecule Caspr5c", "type": "synonym" }, { "name": "Contactin-associated protein-like 5c", "type": "synonym" }, { "name": "cell recognition molecule Caspr5-3", "type": "synonym" }, { "name": "cell recognition molecule Caspr5c", "type": "synonym" }, { "name": "contactin-associated protein like 5-3 precursor", "type": "synonym" }, { "name": "contactin-associated protein like 5-3", "type": "synonym" }, { "name": "contactin-associated protein-like 5c", "type": "synonym" } ], "gene_names": [ { "name": "Cntnap5c", "type": "recommended" }, { "name": "Caspr5-3", "type": "synonym" }, { "name": "Cntnap5c", "type": "synonym" }, { "name": "EG620292", "type": "synonym" }, { "name": "Gm325", "type": "synonym" } ], "record_id": "Q0V8T7-1", "evidence": [ { "id": "0060308", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060308" } ] }, { "uniprot_canonical_ac": "Q0V8T9-1", "uniprot_ac": "Q0V8T9", "uniprot_id": "CTP5A_MOUSE", "refseq_ac": "NP_001070893", "glycoprotein": "yes", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Contactin-associated protein like 5-1", "type": "recommended" }, { "name": "Cell recognition molecule Caspr5-1", "type": "synonym" }, { "name": "Cell recognition molecule Caspr5a", "type": "synonym" }, { "name": "Contactin-associated protein-like 5a", "type": "synonym" }, { "name": "cell recognition molecule Caspr5-1", "type": "synonym" }, { "name": "cell recognition molecule Caspr5a", "type": "synonym" }, { "name": "contactin-associated protein like 5-1 isoform 2 precursor", "type": "synonym" }, { "name": "contactin-associated protein like 5-1", "type": "synonym" }, { "name": "contactin-associated protein-like 5a", "type": "synonym" } ], "gene_names": [ { "name": "Cntnap5a", "type": "recommended" }, { "name": "Caspr5-1", "type": "synonym" }, { "name": "Cntnap5a", "type": "synonym" }, { "name": "EG636808", "type": "synonym" } ], "record_id": "Q0V8T9-1", "evidence": [ { "id": "0060308", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060308" } ] }, { "uniprot_canonical_ac": "Q9CPW0-1", "uniprot_ac": "Q9CPW0", "uniprot_id": "CNTP2_MOUSE", "refseq_ac": "NP_001004357", "glycoprotein": "yes", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Contactin-associated protein-like 2", "type": "recommended" }, { "name": "Cell recognition molecule Caspr2", "type": "synonym" }, { "name": "cell recognition molecule Caspr2", "type": "synonym" }, { "name": "contactin-associated protein-like 2 isoform a precursor", "type": "synonym" } ], "gene_names": [ { "name": "Cntnap2", "type": "recommended" }, { "name": "5430425M22Rik", "type": "synonym" }, { "name": "Caspr2", "type": "synonym" }, { "name": "Cntnap2", "type": "synonym" }, { "name": "Kiaa0868", "type": "synonym" }, { "name": "mKIAA0868", "type": "synonym" } ], "record_id": "Q9CPW0-1", "evidence": [ { "id": "0060308", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060308" } ] }, { "uniprot_canonical_ac": "Q0V8T8-1", "uniprot_ac": "Q0V8T8", "uniprot_id": "CTP5B_MOUSE", "refseq_ac": "NP_766439", "glycoprotein": "yes", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Contactin-associated protein like 5-2", "type": "recommended" }, { "name": "Cell recognition molecule Caspr5-2", "type": "synonym" }, { "name": "Cell recognition molecule Caspr5b", "type": "synonym" }, { "name": "Contactin-associated protein-like 5b", "type": "synonym" }, { "name": "cell recognition molecule Caspr5-2", "type": "synonym" }, { "name": "cell recognition molecule Caspr5b", "type": "synonym" }, { "name": "contactin-associated protein like 5-2 precursor", "type": "synonym" }, { "name": "contactin-associated protein like 5-2", "type": "synonym" }, { "name": "contactin-associated protein-like 5b", "type": "synonym" } ], "gene_names": [ { "name": "Cntnap5b", "type": "recommended" }, { "name": "C230078M14Rik", "type": "synonym" }, { "name": "Caspr5-2", "type": "synonym" }, { "name": "Cntnap5b", "type": "synonym" } ], "record_id": "Q0V8T8-1", "evidence": [ { "id": "0060308", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060308" } ] }, { "uniprot_canonical_ac": "O54991-1", "uniprot_ac": "O54991", "uniprot_id": "CNTP1_MOUSE", "refseq_ac": "NP_058062", "glycoprotein": "yes", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Contactin-associated protein 1", "type": "recommended" }, { "name": "Caspr1", "type": "synonym" }, { "name": "Caspr", "type": "synonym" }, { "name": "MHDNIV", "type": "synonym" }, { "name": "NCP1", "type": "synonym" }, { "name": "Neurexin IV", "type": "synonym" }, { "name": "Neurexin-4", "type": "synonym" }, { "name": "Paranodin", "type": "synonym" }, { "name": "caspr1", "type": "synonym" }, { "name": "contactin-associated protein 1 precursor", "type": "synonym" }, { "name": "contactin-associated protein 1", "type": "synonym" }, { "name": "neurexin 4 (contactin associated protein)", "type": "synonym" }, { "name": "neurexin IV", "type": "synonym" }, { "name": "neurexin-4", "type": "synonym" }, { "name": "paranodin", "type": "synonym" } ], "gene_names": [ { "name": "Cntnap1", "type": "recommended" }, { "name": "Caspr", "type": "synonym" }, { "name": "Cntnap1", "type": "synonym" }, { "name": "NCP1", "type": "synonym" }, { "name": "Nrxn4", "type": "synonym" }, { "name": "p190", "type": "synonym" }, { "name": "shm", "type": "synonym" } ], "record_id": "O54991-1", "evidence": [ { "id": "0060308", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060308" } ] }, { "uniprot_canonical_ac": "E9PY62-1", "uniprot_ac": "E9PY62", "uniprot_id": "E9PY62_MOUSE", "refseq_ac": "NP_001074598", "glycoprotein": "yes", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Contactin associated protein-like 3", "type": "synonym" }, { "name": "cell recognition molecule Caspr3", "type": "synonym" }, { "name": "contactin-associated protein-like 3 precursor", "type": "synonym" } ], "gene_names": [ { "name": "Cntnap3", "type": "recommended" }, { "name": "Cntnap3", "type": "synonym" } ], "record_id": "E9PY62-1", "evidence": [ { "id": "0060308", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060308" } ] }, { "uniprot_canonical_ac": "Q99P47-1", "uniprot_ac": "Q99P47", "uniprot_id": "CNTP4_MOUSE", "refseq_ac": "NP_569724", "glycoprotein": "yes", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Contactin-associated protein-like 4", "type": "recommended" }, { "name": "Cell recognition molecule Caspr4", "type": "synonym" }, { "name": "cell recognition molecule Caspr4", "type": "synonym" }, { "name": "cell recognition protein CASPR4", "type": "synonym" }, { "name": "contactin associated protein 4", "type": "synonym" }, { "name": "contactin-associated protein-like 4 precursor", "type": "synonym" } ], "gene_names": [ { "name": "Cntnap4", "type": "recommended" }, { "name": "Caspr4", "type": "synonym" }, { "name": "Cntnap4", "type": "synonym" }, { "name": "E130114F09Rik", "type": "synonym" } ], "record_id": "Q99P47-1", "evidence": [ { "id": "0060308", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060308" } ] }, { "uniprot_canonical_ac": "Q8BJ05-1", "uniprot_ac": "Q8BJ05", "uniprot_id": "ZC3HE_MOUSE", "refseq_ac": "NP_001008506", "glycoprotein": "yes", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Zinc finger CCCH domain-containing protein 14", "type": "recommended" }, { "name": "zinc finger CCCH domain-containing protein 14 isoform b", "type": "synonym" }, { "name": "zinc finger CCCH domain-containing protein 14", "type": "synonym" } ], "gene_names": [ { "name": "Zc3h14", "type": "recommended" }, { "name": "1010001P15Rik", "type": "synonym" }, { "name": "1700016A15Rik", "type": "synonym" }, { "name": "2700069A02Rik", "type": "synonym" }, { "name": "Zc3h14", "type": "synonym" } ], "record_id": "Q8BJ05-1", "evidence": [ { "id": "0060308", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060308" } ] }, { "uniprot_canonical_ac": "P56730-1", "uniprot_ac": "P56730", "uniprot_id": "NETR_HUMAN", "refseq_ac": "NP_003610", "glycoprotein": "yes", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "Neurotrypsin", "type": "recommended" }, { "name": "3.4.21.-", "type": "synonym" }, { "name": "Leydin", "type": "synonym" }, { "name": "Motopsin", "type": "synonym" }, { "name": "Serine protease 12", "type": "synonym" }, { "name": "brain-specific serine protease 3", "type": "synonym" }, { "name": "leydin", "type": "synonym" }, { "name": "neurotrypsin isoform 1 precursor", "type": "synonym" }, { "name": "protease, serine 12", "type": "synonym" }, { "name": "protease, serine, 12 (neurotrypsin, motopsin)", "type": "synonym" } ], "gene_names": [ { "name": "PRSS12", "type": "recommended" }, { "name": "BSSP-3", "type": "synonym" }, { "name": "BSSP3", "type": "synonym" }, { "name": "MRT1", "type": "synonym" }, { "name": "PRSS12", "type": "synonym" } ], "record_id": "P56730-1", "evidence": [ { "id": "249500", "database": "MIM", "url": "https://www.omim.org/entry/249500" } ] }, { "uniprot_canonical_ac": "P53327-1", "uniprot_ac": "P53327", "uniprot_id": "ASCC3_YEAST", "refseq_ac": "NP_011787", "glycoprotein": "no", "species": [ { "name": "Saccharomyces cerevisiae S288C", "taxid": 559292, "common_name": "Baker's yeast", "glygen_name": "Yeast", "reference_species": "Saccharomyces cerevisiae S288C [559292]" } ], "protein_names": [ { "name": "RQC trigger complex helicase SLH1", "type": "recommended" }, { "name": "3.6.4.13", "type": "synonym" }, { "name": "Antiviral helicase SLH1", "type": "synonym" }, { "name": "RNA helicase", "type": "synonym" }, { "name": "SKI2-like helicase 1", "type": "synonym" } ], "gene_names": [ { "name": "SLH1", "type": "recommended" }, { "name": "G9365", "type": "synonym" }, { "name": "RQT2", "type": "synonym" }, { "name": "SLH1", "type": "synonym" } ], "record_id": "P53327-1", "evidence": [ { "id": "0060308", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060308" } ] }, { "uniprot_canonical_ac": "Q02455-1", "uniprot_ac": "Q02455", "uniprot_id": "MLP1_YEAST", "refseq_ac": "NP_013021", "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": "Protein MLP1", "type": "recommended" }, { "name": "Mlp1p", "type": "synonym" }, { "name": "Myosin-like protein 1", "type": "synonym" } ], "gene_names": [ { "name": "MLP1", "type": "recommended" }, { "name": "MLP1", "type": "synonym" }, { "name": "MPL1", "type": "synonym" }, { "name": "YKR415", "type": "synonym" } ], "record_id": "Q02455-1", "evidence": [ { "id": "0060308", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060308" } ] }, { "uniprot_canonical_ac": "P40457-1", "uniprot_ac": "P40457", "uniprot_id": "MLP2_YEAST", "refseq_ac": "NP_012117", "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": "Protein MLP2", "type": "recommended" }, { "name": "Mlp2p", "type": "synonym" }, { "name": "Myosin-like protein 2", "type": "synonym" } ], "gene_names": [ { "name": "MLP2", "type": "recommended" }, { "name": "MLP2", "type": "synonym" } ], "record_id": "P40457-1", "evidence": [ { "id": "0060308", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060308" } ] }, { "uniprot_canonical_ac": "P32505-1", "uniprot_ac": "P32505", "uniprot_id": "NAB2_YEAST", "refseq_ac": "NP_011393", "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": "Nuclear polyadenylated RNA-binding protein NAB2", "type": "recommended" }, { "name": "mRNA-binding protein NAB2", "type": "synonym" } ], "gene_names": [ { "name": "NAB2", "type": "recommended" }, { "name": "NAB2", "type": "synonym" } ], "record_id": "P32505-1", "evidence": [ { "id": "0060308", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060308" } ] }, { "uniprot_canonical_ac": "F1LPQ2-1", "uniprot_ac": "F1LPQ2", "uniprot_id": "ASCC3_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": "Activating signal cointegrator 1 complex subunit 3", "type": "recommended" }, { "name": "5.6.2.4", "type": "synonym" } ], "gene_names": [ { "name": "Ascc3", "type": "recommended" } ], "record_id": "F1LPQ2-1", "evidence": [ { "id": "0060308", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060308" } ] }, { "uniprot_canonical_ac": "P55215-1", "uniprot_ac": "P55215", "uniprot_id": "CASP2_RAT", "refseq_ac": "NP_071967", "glycoprotein": "no", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "Caspase-2", "type": "recommended" }, { "name": "3.4.22.55", "type": "synonym" }, { "name": "CASP-2", "type": "synonym" }, { "name": "ICH-1 protease", "type": "synonym" }, { "name": "Protease ICH-1", "type": "synonym" }, { "name": "caspase-2", "type": "synonym" }, { "name": "protease ICH-1", "type": "synonym" } ], "gene_names": [ { "name": "Casp2", "type": "recommended" }, { "name": "Tmem139", "type": "recommended" }, { "name": "Casp2", "type": "synonym" }, { "name": "Ich1", "type": "synonym" } ], "record_id": "P55215-1", "evidence": [ { "id": "0060308", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060308" } ] }, { "uniprot_canonical_ac": "F1MA98-1", "uniprot_ac": "F1MA98", "uniprot_id": "TPR_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": "Nucleoprotein TPR", "type": "recommended" }, { "name": "Megator", "type": "synonym" }, { "name": "NPC-associated intranuclear protein", "type": "synonym" }, { "name": "Translocated promoter region protein", "type": "synonym" } ], "gene_names": [ { "name": "Tpr", "type": "recommended" } ], "record_id": "F1MA98-1", "evidence": [ { "id": "0060308", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060308" } ] }, { "uniprot_canonical_ac": "A0A8I6ACB1-1", "uniprot_ac": "A0A8I6ACB1", "uniprot_id": "A0A8I6ACB1_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": "WD repeat-containing protein 11", "type": "recommended" }, { "name": "Bromodomain and WD repeat-containing protein 2", "type": "synonym" } ], "gene_names": [ { "name": "Wdr11", "type": "recommended" } ], "record_id": "A0A8I6ACB1-1", "evidence": [ { "id": "0060308", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060308" } ] }, { "uniprot_canonical_ac": "D4AA49-1", "uniprot_ac": "D4AA49", "uniprot_id": "D4AA49_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": "Contactin associated protein family member 3", "type": "synonym" } ], "gene_names": [ { "name": "Cntnap3", "type": "recommended" } ], "record_id": "D4AA49-1", "evidence": [ { "id": "0060308", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060308" } ] }, { "uniprot_canonical_ac": "Q56AP7-1", "uniprot_ac": "Q56AP7", "uniprot_id": "CRBN_RAT", "refseq_ac": "NP_001015003", "glycoprotein": "no", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "Protein cereblon", "type": "recommended" }, { "name": "protein cereblon", "type": "synonym" } ], "gene_names": [ { "name": "Crbn", "type": "recommended" }, { "name": "Crbn", "type": "synonym" } ], "record_id": "Q56AP7-1", "evidence": [ { "id": "0060308", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060308" } ] }, { "uniprot_canonical_ac": "P97846-1", "uniprot_ac": "P97846", "uniprot_id": "CNTP1_RAT", "refseq_ac": "NP_114450", "glycoprotein": "yes", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "Contactin-associated protein 1", "type": "recommended" }, { "name": "Caspr1", "type": "synonym" }, { "name": "Caspr", "type": "synonym" }, { "name": "Neurexin IV", "type": "synonym" }, { "name": "Neurexin-4", "type": "synonym" }, { "name": "Paranodin", "type": "synonym" }, { "name": "caspr1", "type": "synonym" }, { "name": "contactin-associated protein 1 precursor", "type": "synonym" }, { "name": "neurexin IV", "type": "synonym" }, { "name": "neurexin-4", "type": "synonym" }, { "name": "p190", "type": "synonym" }, { "name": "paranodin", "type": "synonym" } ], "gene_names": [ { "name": "Cntnap1", "type": "recommended" }, { "name": "Caspr", "type": "synonym" }, { "name": "Cntnap1", "type": "synonym" }, { "name": "Nrxn4", "type": "synonym" } ], "record_id": "P97846-1", "evidence": [ { "id": "0060308", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060308" } ] }, { "uniprot_canonical_ac": "F1M3J7-1", "uniprot_ac": "F1M3J7", "uniprot_id": "F1M3J7_RAT", "refseq_ac": "NP_001100902", "glycoprotein": "yes", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "Contactin associated protein family member 4", "type": "synonym" }, { "name": "contactin associated protein 4", "type": "synonym" }, { "name": "contactin associated protein-like 4", "type": "synonym" }, { "name": "contactin-associated protein-like 4 precursor", "type": "synonym" } ], "gene_names": [ { "name": "Cntnap4", "type": "recommended" }, { "name": "Cntnap4", "type": "synonym" } ], "record_id": "F1M3J7-1", "evidence": [ { "id": "0060308", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060308" } ] }, { "uniprot_canonical_ac": "Q0V8T5-1", "uniprot_ac": "Q0V8T5", "uniprot_id": "CTP5B_RAT", "refseq_ac": "NP_001316828", "glycoprotein": "yes", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "Contactin-associated protein like 5-2", "type": "recommended" }, { "name": "Cell recognition molecule Caspr5-2", "type": "synonym" }, { "name": "Cell recognition molecule Caspr5b", "type": "synonym" }, { "name": "Contactin-associated protein-like 5b", "type": "synonym" }, { "name": "contactin associated protein-like 5-2", "type": "synonym" }, { "name": "similar to contactin associated protein-like 5 isoform 1 precursor", "type": "synonym" } ], "gene_names": [ { "name": "Cntnap5a", "type": "recommended" }, { "name": "Cntnap5bl1", "type": "recommended" }, { "name": "Cntnap5b", "type": "recommended" }, { "name": "Cntnap5c", "type": "recommended" }, { "name": "Caspr5-2", "type": "synonym" }, { "name": "Cntnap5a", "type": "synonym" }, { "name": "Cntnap5bl1", "type": "synonym" }, { "name": "Cntnap5c", "type": "synonym" }, { "name": "LOC304725", "type": "synonym" } ], "record_id": "Q0V8T5-1", "evidence": [ { "id": "0060308", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060308" } ] }, { "uniprot_canonical_ac": "Q0V8T6-1", "uniprot_ac": "Q0V8T6", "uniprot_id": "CTP5A_RAT", "refseq_ac": "NP_001041330", "glycoprotein": "yes", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "Contactin-associated protein like 5-1", "type": "recommended" }, { "name": "Cell recognition molecule Caspr5-1", "type": "synonym" }, { "name": "Cell recognition molecule Caspr5a", "type": "synonym" }, { "name": "Contactin-associated protein-like 5a", "type": "synonym" }, { "name": "cell recognition molecule Caspr5-1", "type": "synonym" }, { "name": "cell recognition molecule Caspr5a", "type": "synonym" }, { "name": "contactin-associated protein like 5-1 precursor", "type": "synonym" }, { "name": "contactin-associated protein like 5-1-like", "type": "synonym" }, { "name": "contactin-associated protein like 5-1", "type": "synonym" }, { "name": "contactin-associated protein-like 5a", "type": "synonym" } ], "gene_names": [ { "name": "Cntnap5a", "type": "recommended" }, { "name": "Caspr5-1", "type": "synonym" }, { "name": "Cntnap5a", "type": "synonym" }, { "name": "RGD1559812", "type": "synonym" } ], "record_id": "Q0V8T6-1", "evidence": [ { "id": "0060308", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060308" } ] }, { "uniprot_canonical_ac": "A0A8I6GH02-1", "uniprot_ac": "A0A8I6GH02", "uniprot_id": "A0A8I6GH02_RAT", "refseq_ac": "NP_001414577", "glycoprotein": "no", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "Contactin associated protein 2", "type": "synonym" }, { "name": "contactin associated protein-like 2", "type": "synonym" }, { "name": "contactin-associated protein-like 2 precursor", "type": "synonym" }, { "name": "contactin-associated protein-like 2", "type": "synonym" }, { "name": "mKIAA0868 protein-like", "type": "synonym" } ], "gene_names": [ { "name": "Cntnap2", "type": "recommended" }, { "name": "Cntnap2", "type": "synonym" } ], "record_id": "A0A8I6GH02-1", "evidence": [ { "id": "0060308", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060308" } ] }, { "uniprot_canonical_ac": "Q7TMD5-1", "uniprot_ac": "Q7TMD5", "uniprot_id": "ZC3HE_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": "Zinc finger CCCH domain-containing protein 14", "type": "recommended" }, { "name": "Nuclear protein UKp83/UKp68", "type": "synonym" } ], "gene_names": [ { "name": "Zc3h14", "type": "recommended" }, { "name": "Npuk68", "type": "synonym" } ], "record_id": "Q7TMD5-1", "evidence": [ { "id": "0060308", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060308" } ] }, { "uniprot_canonical_ac": "Q9XYF4-1", "uniprot_ac": "Q9XYF4", "uniprot_id": "DRONC_DROME", "refseq_ac": "NP_524017", "glycoprotein": "no", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "Caspase Dronc", "type": "recommended" }, { "name": "3.4.22.62", "type": "synonym" }, { "name": "CG8091-PA", "type": "synonym" }, { "name": "Caspase-9-like", "type": "synonym" }, { "name": "Death regulator NEDD2-like caspase", "type": "synonym" }, { "name": "Dronc-PA", "type": "synonym" }, { "name": "caspase-9", "type": "synonym" }, { "name": "death regulator Nedd2-like caspase", "type": "synonym" }, { "name": "dronc", "type": "synonym" }, { "name": "drosophila Caspase-9 homologue", "type": "synonym" }, { "name": "drosophila Nedd2-like caspase", "type": "synonym" }, { "name": "nedd 2-like caspase", "type": "synonym" } ], "gene_names": [ { "name": "Dronc", "type": "recommended" }, { "name": "CG8090", "type": "synonym" }, { "name": "CG8091", "type": "synonym" }, { "name": "DRONC", "type": "synonym" }, { "name": "Dmel\\CG8091", "type": "synonym" }, { "name": "Dronc/Casp9", "type": "synonym" }, { "name": "Dronc", "type": "synonym" }, { "name": "Nc\\Dronc", "type": "synonym" }, { "name": "Nc", "type": "synonym" }, { "name": "anon-EST:GreesD6", "type": "synonym" }, { "name": "anon-EST:GressD6", "type": "synonym" }, { "name": "anon-WO0118547.313", "type": "synonym" }, { "name": "caspase-9", "type": "synonym" }, { "name": "dronc", "type": "synonym" } ], "record_id": "Q9XYF4-1", "evidence": [ { "id": "0060308", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060308" } ] }, { "uniprot_canonical_ac": "Q9VF56-1", "uniprot_ac": "Q9VF56", "uniprot_id": "Q9VF56_DROME", "refseq_ac": "NP_650472", "glycoprotein": "no", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "Activating signal cointegrator 1 complex subunit 3", "type": "recommended" }, { "name": "5.6.2.4", "type": "synonym" }, { "name": "CG5205-PA", "type": "synonym" }, { "name": "obe-PA", "type": "synonym" }, { "name": "obelus", "type": "synonym" } ], "gene_names": [ { "name": "obe", "type": "recommended" }, { "name": "CG5205", "type": "synonym" }, { "name": "Dmel\\CG5205", "type": "synonym" }, { "name": "Dmel_CG5205", "type": "synonym" }, { "name": "cg5205", "type": "synonym" }, { "name": "obe", "type": "synonym" } ], "record_id": "Q9VF56-1", "evidence": [ { "id": "0060308", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060308" } ] }, { "uniprot_canonical_ac": "A1Z8P9-1", "uniprot_ac": "A1Z8P9", "uniprot_id": "TPR_DROME", "refseq_ac": "NP_001260903", "glycoprotein": "no", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "Nucleoprotein TPR", "type": "recommended" }, { "name": "CG8274-PB", "type": "synonym" }, { "name": "Mgtor-PB", "type": "synonym" }, { "name": "Nuclear envelope antigen Bx34", "type": "synonym" }, { "name": "Protein megator", "type": "synonym" }, { "name": "lethal (2) k03905", "type": "synonym" }, { "name": "megator, isoform B", "type": "synonym" } ], "gene_names": [ { "name": "Mgtor", "type": "recommended" }, { "name": "Bx34", "type": "synonym" }, { "name": "CG8274", "type": "synonym" }, { "name": "Dmel\\CG8274", "type": "synonym" }, { "name": "Dmel_CG8274", "type": "synonym" }, { "name": "MTOR", "type": "synonym" }, { "name": "Mgtor", "type": "synonym" }, { "name": "Mtor", "type": "synonym" }, { "name": "TPR", "type": "synonym" }, { "name": "Tpr", "type": "synonym" }, { "name": "l(2)k03905", "type": "synonym" }, { "name": "mtor", "type": "synonym" } ], "record_id": "A1Z8P9-1", "evidence": [ { "id": "0060308", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060308" } ] }, { "uniprot_canonical_ac": "Q9VH36-1", "uniprot_ac": "Q9VH36", "uniprot_id": "CRBN_DROME", "refseq_ac": "NP_649973", "glycoprotein": "no", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "Protein cereblon", "type": "recommended" }, { "name": "CG3925-PA", "type": "synonym" }, { "name": "Protein ohgata", "type": "synonym" }, { "name": "ohgata", "type": "synonym" }, { "name": "ohgt-PA", "type": "synonym" } ], "gene_names": [ { "name": "ohgt", "type": "recommended" }, { "name": "CG3925", "type": "synonym" }, { "name": "Crbn", "type": "synonym" }, { "name": "Dmel\\CG3925", "type": "synonym" }, { "name": "crbn", "type": "synonym" }, { "name": "ohgt", "type": "synonym" } ], "record_id": "Q9VH36-1", "evidence": [ { "id": "0060308", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060308" } ] }, { "uniprot_canonical_ac": "Q9V3H9-1", "uniprot_ac": "Q9V3H9", "uniprot_id": "Q9V3H9_DROME", "refseq_ac": "NP_651243", "glycoprotein": "no", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "Zinc finger CCCH domain-containing protein 14", "type": "recommended" }, { "name": "CG5720-PA", "type": "synonym" }, { "name": "Nab2-PA", "type": "synonym" }, { "name": "nuclear polyadenosine RNA-binding 2", "type": "synonym" }, { "name": "nuclear polyadenylated RNA-binding 2", "type": "synonym" } ], "gene_names": [ { "name": "Nab2", "type": "recommended" }, { "name": "BEST:GH27517", "type": "synonym" }, { "name": "BcDNA:LD27873", "type": "synonym" }, { "name": "CG5720", "type": "synonym" }, { "name": "Dmel\\CG5720", "type": "synonym" }, { "name": "Dmel_CG5720", "type": "synonym" }, { "name": "DnAB2", "type": "synonym" }, { "name": "Nab2", "type": "synonym" }, { "name": "RE28534", "type": "synonym" }, { "name": "anon-EST:Liang-1.43", "type": "synonym" }, { "name": "clone 1.43", "type": "synonym" }, { "name": "dNab2", "type": "synonym" } ], "record_id": "Q9V3H9-1", "evidence": [ { "id": "0060308", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060308" } ] }, { "uniprot_canonical_ac": "Q94887-1", "uniprot_ac": "Q94887", "uniprot_id": "NRX4_DROME", "refseq_ac": "NP_524034", "glycoprotein": "yes", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "Neurexin-4", "type": "recommended" }, { "name": "CG6827-PA", "type": "synonym" }, { "name": "Neurexin IV", "type": "synonym" }, { "name": "Neurexin-4", "type": "synonym" }, { "name": "Neurexin-IV", "type": "synonym" }, { "name": "Nrx-IV-PA", "type": "synonym" }, { "name": "neurexin 4", "type": "synonym" }, { "name": "neurexin IV, isoform A", "type": "synonym" }, { "name": "neurexin IV", "type": "synonym" }, { "name": "neurexinIV", "type": "synonym" }, { "name": "neurexin", "type": "synonym" }, { "name": "rose-gespleten region interval 23", "type": "synonym" } ], "gene_names": [ { "name": "Nrx-IV", "type": "recommended" }, { "name": "CG6827", "type": "synonym" }, { "name": "CG682", "type": "synonym" }, { "name": "CNTNAP2", "type": "synonym" }, { "name": "CT21123", "type": "synonym" }, { "name": "Dmel\\CG6827", "type": "synonym" }, { "name": "Dmel_CG6827", "type": "synonym" }, { "name": "Dnrx", "type": "synonym" }, { "name": "NRX IV", "type": "synonym" }, { "name": "NRX", "type": "synonym" }, { "name": "Nrx IV", "type": "synonym" }, { "name": "Nrx-IV", "type": "synonym" }, { "name": "Nrx4", "type": "synonym" }, { "name": "NrxIV", "type": "synonym" }, { "name": "Nrx", "type": "synonym" }, { "name": "Nx IV", "type": "synonym" }, { "name": "l(3)68Ff", "type": "synonym" }, { "name": "l(3)rsg23", "type": "synonym" }, { "name": "neurexin", "type": "synonym" }, { "name": "nrx IV", "type": "synonym" }, { "name": "nrx-IV", "type": "synonym" }, { "name": "nrx-iv", "type": "synonym" }, { "name": "nrx4", "type": "synonym" }, { "name": "nrxIV", "type": "synonym" }, { "name": "nrx", "type": "synonym" }, { "name": "rsg23", "type": "synonym" } ], "record_id": "Q94887-1", "evidence": [ { "id": "0060308", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060308" } ] }, { "uniprot_canonical_ac": "Q96SW2-1", "uniprot_ac": "Q96SW2", "uniprot_id": "CRBN_HUMAN", "refseq_ac": "NP_001166953", "glycoprotein": "yes", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "Protein cereblon", "type": "recommended" }, { "name": "protein cereblon isoform 2", "type": "synonym" }, { "name": "protein x 0001", "type": "synonym" } ], "gene_names": [ { "name": "CRBN", "type": "recommended" }, { "name": "AD-006", "type": "synonym" }, { "name": "CRBN", "type": "synonym" }, { "name": "MRT2A", "type": "synonym" }, { "name": "MRT2", "type": "synonym" } ], "record_id": "Q96SW2-1", "evidence": [ { "id": "0060308", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060308" } ] }, { "uniprot_canonical_ac": "Q96NU0-1", "uniprot_ac": "Q96NU0", "uniprot_id": "CNT3B_HUMAN", "refseq_ac": "NP_001188309", "glycoprotein": "yes", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "Contactin-associated protein-like 3B", "type": "recommended" }, { "name": "Cell recognition molecule Caspr3b", "type": "synonym" }, { "name": "cell recognition molecule Caspr3b", "type": "synonym" }, { "name": "contactin associated protein like 3B", "type": "synonym" }, { "name": "contactin-associated protein-like 3B precursor", "type": "synonym" } ], "gene_names": [ { "name": "CNTNAP3B", "type": "recommended" }, { "name": "CASPR3B", "type": "synonym" }, { "name": "CNTNAP3B", "type": "synonym" } ], "record_id": "Q96NU0-1", "evidence": [ { "id": "0060308", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060308" } ] }, { "uniprot_canonical_ac": "P78357-1", "uniprot_ac": "P78357", "uniprot_id": "CNTP1_HUMAN", "refseq_ac": "NP_003623", "glycoprotein": "yes", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "Contactin-associated protein 1", "type": "recommended" }, { "name": "Caspr1", "type": "synonym" }, { "name": "Caspr", "type": "synonym" }, { "name": "Neurexin IV", "type": "synonym" }, { "name": "Neurexin-4", "type": "synonym" }, { "name": "caspr1", "type": "synonym" }, { "name": "contactin-associated protein 1 precursor", "type": "synonym" }, { "name": "neurexin IV", "type": "synonym" }, { "name": "neurexin-4", "type": "synonym" }, { "name": "p190", "type": "synonym" } ], "gene_names": [ { "name": "CNTNAP1", "type": "recommended" }, { "name": "CASPR", "type": "synonym" }, { "name": "CHN3", "type": "synonym" }, { "name": "CNTNAP1", "type": "synonym" }, { "name": "CNTNAP", "type": "synonym" }, { "name": "NRXN4", "type": "synonym" }, { "name": "P190", "type": "synonym" } ], "record_id": "P78357-1", "evidence": [ { "id": "0060308", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060308" } ] }, { "uniprot_canonical_ac": "Q9UHC6-1", "uniprot_ac": "Q9UHC6", "uniprot_id": "CNTP2_HUMAN", "refseq_ac": "NP_054860", "glycoprotein": "yes", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "Contactin-associated protein-like 2", "type": "recommended" }, { "name": "Cell recognition molecule Caspr2", "type": "synonym" }, { "name": "cell recognition molecule Caspr2", "type": "synonym" }, { "name": "contactin associated protein like 2", "type": "synonym" }, { "name": "contactin-associated protein-like 2 precursor", "type": "synonym" }, { "name": "homolog of Drosophila neurexin IV", "type": "synonym" } ], "gene_names": [ { "name": "CNTNAP2", "type": "recommended" }, { "name": "AUTS15", "type": "synonym" }, { "name": "CASPR2", "type": "synonym" }, { "name": "CDFE", "type": "synonym" }, { "name": "CNTNAP2", "type": "synonym" }, { "name": "KIAA0868", "type": "synonym" }, { "name": "NRXN4", "type": "synonym" }, { "name": "PTHSL1", "type": "synonym" } ], "record_id": "Q9UHC6-1", "evidence": [ { "id": "0060308", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060308" } ] }, { "uniprot_canonical_ac": "Q9BZ76-1", "uniprot_ac": "Q9BZ76", "uniprot_id": "CNTP3_HUMAN", "refseq_ac": "NP_387504", "glycoprotein": "yes", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "Contactin-associated protein-like 3", "type": "recommended" }, { "name": "Cell recognition molecule Caspr3", "type": "synonym" }, { "name": "cell recognition molecule Caspr3", "type": "synonym" }, { "name": "contactin associated protein like 3", "type": "synonym" }, { "name": "contactin-associated protein-like 3 isoform 1 precursor", "type": "synonym" } ], "gene_names": [ { "name": "CNTNAP3", "type": "recommended" }, { "name": "CASPR3", "type": "synonym" }, { "name": "CNTNAP3A", "type": "synonym" }, { "name": "CNTNAP3", "type": "synonym" }, { "name": "KIAA1714", "type": "synonym" } ], "record_id": "Q9BZ76-1", "evidence": [ { "id": "0060308", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060308" } ] }, { "uniprot_canonical_ac": "Q8WYK1-1", "uniprot_ac": "Q8WYK1", "uniprot_id": "CNTP5_HUMAN", "refseq_ac": "NP_570129", "glycoprotein": "yes", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "Contactin-associated protein-like 5", "type": "recommended" }, { "name": "Cell recognition molecule Caspr5", "type": "synonym" }, { "name": "cell recognition molecule Caspr5", "type": "synonym" }, { "name": "contactin associated protein like 5", "type": "synonym" }, { "name": "contactin-associated protein-like 5 isoform 1 precursor", "type": "synonym" } ], "gene_names": [ { "name": "CNTNAP5", "type": "recommended" }, { "name": "CASPR5", "type": "synonym" }, { "name": "CNTNAP5", "type": "synonym" }, { "name": "caspr5", "type": "synonym" } ], "record_id": "Q8WYK1-1", "evidence": [ { "id": "0060308", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060308" } ] }, { "uniprot_canonical_ac": "Q9C0A0-1", "uniprot_ac": "Q9C0A0", "uniprot_id": "CNTP4_HUMAN", "refseq_ac": "NP_207837", "glycoprotein": "yes", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "Contactin-associated protein-like 4", "type": "recommended" }, { "name": "Cell recognition molecule Caspr4", "type": "synonym" }, { "name": "cell recognition molecule Caspr4", "type": "synonym" }, { "name": "contactin associated protein like 4", "type": "synonym" }, { "name": "contactin-associated protein-like 4 isoform 1 precursor", "type": "synonym" } ], "gene_names": [ { "name": "CNTNAP4", "type": "recommended" }, { "name": "CASPR4", "type": "synonym" }, { "name": "CNTNAP4", "type": "synonym" }, { "name": "KIAA1763", "type": "synonym" } ], "record_id": "Q9C0A0-1", "evidence": [ { "id": "0060308", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060308" } ] }, { "uniprot_canonical_ac": "Q6PJT7-1", "uniprot_ac": "Q6PJT7", "uniprot_id": "ZC3HE_HUMAN", "refseq_ac": "NP_001153575", "glycoprotein": "yes", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "Zinc finger CCCH domain-containing protein 14", "type": "recommended" }, { "name": "MSUT-2", "type": "synonym" }, { "name": "Mammalian suppressor of tau pathology-2", "type": "synonym" }, { "name": "Renal carcinoma antigen NY-REN-37", "type": "synonym" }, { "name": "mammalian suppressor of tau pathology-2", "type": "synonym" }, { "name": "nuclear protein UKp68", "type": "synonym" }, { "name": "renal carcinoma antigen NY-REN-37", "type": "synonym" }, { "name": "zinc finger CCCH domain-containing protein 14 isoform 5", "type": "synonym" }, { "name": "zinc finger CCCH domain-containing protein 14", "type": "synonym" } ], "gene_names": [ { "name": "ZC3H14", "type": "recommended" }, { "name": "MRT56", "type": "synonym" }, { "name": "MSUT-2", "type": "synonym" }, { "name": "NY-REN-37", "type": "synonym" }, { "name": "SUT2", "type": "synonym" }, { "name": "UKp68", "type": "synonym" }, { "name": "ZC3H14", "type": "synonym" } ], "record_id": "Q6PJT7-1", "evidence": [ { "id": "0060308", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060308" } ] }, { "uniprot_canonical_ac": "P12270-1", "uniprot_ac": "P12270", "uniprot_id": "TPR_HUMAN", "refseq_ac": "NP_003283", "glycoprotein": "yes", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "Nucleoprotein TPR", "type": "recommended" }, { "name": "Megator", "type": "synonym" }, { "name": "NPC-associated intranuclear protein", "type": "synonym" }, { "name": "Translocated promoter region protein", "type": "synonym" }, { "name": "megator", "type": "synonym" }, { "name": "nuclear pore complex-associated protein TPR", "type": "synonym" }, { "name": "nucleoprotein TPR", "type": "synonym" }, { "name": "translocated promoter region (to activated MET oncogene)", "type": "synonym" }, { "name": "translocated promoter region protein", "type": "synonym" }, { "name": "tumor potentiating region", "type": "synonym" } ], "gene_names": [ { "name": "TPR", "type": "recommended" }, { "name": "MRT79", "type": "synonym" }, { "name": "TPR", "type": "synonym" } ], "record_id": "P12270-1", "evidence": [ { "id": "0060308", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060308" } ] }, { "uniprot_canonical_ac": "Q9BZH6-1", "uniprot_ac": "Q9BZH6", "uniprot_id": "WDR11_HUMAN", "refseq_ac": "NP_060587", "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 11", "type": "recommended" }, { "name": "Bromodomain and WD repeat-containing protein 2", "type": "synonym" }, { "name": "WD repeat domain 15", "type": "synonym" }, { "name": "WD repeat-containing protein 11", "type": "synonym" }, { "name": "WD repeat-containing protein 15", "type": "synonym" }, { "name": "bromodomain and WD repeat-containing protein 2", "type": "synonym" }, { "name": "sensitization to ricin complex subunit 1", "type": "synonym" } ], "gene_names": [ { "name": "WDR11", "type": "recommended" }, { "name": "BRWD2", "type": "synonym" }, { "name": "DR11", "type": "synonym" }, { "name": "HH14", "type": "synonym" }, { "name": "KIAA1351", "type": "synonym" }, { "name": "SRI1", "type": "synonym" }, { "name": "WDR11", "type": "synonym" }, { "name": "WDR15", "type": "synonym" } ], "record_id": "Q9BZH6-1", "evidence": [ { "id": "0060308", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060308" } ] }, { "uniprot_canonical_ac": "P42575-1", "uniprot_ac": "P42575", "uniprot_id": "CASP2_HUMAN", "refseq_ac": "NP_001215", "glycoprotein": "yes", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "Caspase-2", "type": "recommended" }, { "name": "3.4.22.55", "type": "synonym" }, { "name": "CASP-2", "type": "synonym" }, { "name": "NEDD-2", "type": "synonym" }, { "name": "Neural precursor cell expressed developmentally down-regulated protein 2", "type": "synonym" }, { "name": "Protease ICH-1", "type": "synonym" }, { "name": "caspase 2 apoptosis-related cysteine peptidase", "type": "synonym" }, { "name": "caspase-2 isoform 2", "type": "synonym" }, { "name": "neural precursor cell expressed developmentally down-regulated protein 2", "type": "synonym" }, { "name": "protease ICH-1", "type": "synonym" }, { "name": "protein phosphatase 1, regulatory subunit 57", "type": "synonym" } ], "gene_names": [ { "name": "CASP2", "type": "recommended" }, { "name": "CASP-2", "type": "synonym" }, { "name": "CASP2", "type": "synonym" }, { "name": "ICH1", "type": "synonym" }, { "name": "MRT80", "type": "synonym" }, { "name": "NEDD-2", "type": "synonym" }, { "name": "NEDD2", "type": "synonym" }, { "name": "PPP1R57", "type": "synonym" } ], "record_id": "P42575-1", "evidence": [ { "id": "0060308", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060308" } ] }, { "uniprot_canonical_ac": "Q8N3C0-1", "uniprot_ac": "Q8N3C0", "uniprot_id": "ASCC3_HUMAN", "refseq_ac": "NP_001271200", "glycoprotein": "yes", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "Activating signal cointegrator 1 complex subunit 3", "type": "recommended" }, { "name": "5.6.2.4", "type": "synonym" }, { "name": "ASC-1 complex subunit P200", "type": "synonym" }, { "name": "ASC-1 complex subunit p200", "type": "synonym" }, { "name": "ASC1p200", "type": "synonym" }, { "name": "Helicase, ATP binding 1", "type": "synonym" }, { "name": "RNA helicase family", "type": "synonym" }, { "name": "Trip4 complex subunit p200", "type": "synonym" }, { "name": "activating signal cointegrator 1 complex subunit 3 isoform c", "type": "synonym" }, { "name": "helicase, ATP binding 1", "type": "synonym" }, { "name": "trip4 complex subunit p200", "type": "synonym" } ], "gene_names": [ { "name": "ASCC3", "type": "recommended" }, { "name": "ASC1p200", "type": "synonym" }, { "name": "ASCC3", "type": "synonym" }, { "name": "HELIC1", "type": "synonym" }, { "name": "MRT81", "type": "synonym" }, { "name": "RNAH", "type": "synonym" }, { "name": "RQT2", "type": "synonym" } ], "record_id": "Q8N3C0-1", "evidence": [ { "id": "0060308", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060308" } ] } ], "glycans": [], "biomarkers": [], "association_flag": "1000", "record_id": "doid.0060308" }