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Imported Disease Annotations - ClinVarObject Symbol | Species | Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | CSNK2B | Human | autism spectrum disorder | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Autism spectrum disorder | ClinVar | PMID:25741868 | CSNK2B | Human | autosomal dominant intellectual developmental disorder | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Autosomal dominant non-syndromic intellectual disability | ClinVar | PMID:25741868 | CSNK2B | Human | enophthalmos | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Enophthalmos | ClinVar | PMID:25741868|PMID:28492532|PMID:33644862|PMID:34041744|PMID:35571680 | CSNK2B | Human | epilepsy | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Seizure | ClinVar | | CSNK2B | Human | epilepsy | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Seizure | ClinVar | PMID:25741868|PMID:28492532|PMID:33644862|PMID:34041744|PMID:35571680 | CSNK2B | Human | genetic disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:25741868|PMID:33166063|PMID:34041744 | CSNK2B | Human | genetic disease | | IAGP | RGD:13533143|RGD:156227729|RGD:156258453|RGD:156329622|RGD:401761021|RGD:40886626|RGD:40886962|RGD:598160247 | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | CSNK2B | Human | genetic disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:25741868|PMID:28492532|PMID:33644862|PMID:34041744|PMID:35571680 | CSNK2B | Human | genetic disease | | IAGP | RGD:13532200|RGD:155644506|RGD:40886685|RGD:40886873 | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:25741868 | CSNK2B | Human | genetic disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:25741868|PMID:28585349|PMID:31780880|PMID:34041744 | CSNK2B | Human | genetic disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:28333917 | CSNK2B | Human | intellectual disability | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Intellectual developmental disorder | ClinVar | PMID:25741868|PMID:28492532|PMID:33644862|PMID:34041744|PMID:35571680 | CSNK2B | Human | Malocclusion, Angle Class III | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hapsburg jaw | ClinVar | PMID:25741868|PMID:28492532|PMID:33644862|PMID:34041744|PMID:35571680 | CSNK2B | Human | megacolon | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Megacolon | ClinVar | PMID:21681106 | CSNK2B | Human | Neurodevelopmental Disorders | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Neurodevelopmental disorder | ClinVar | PMID:25741868 | CSNK2B | Human | POIRIER-BIENVENU NEURODEVELOPMENTAL SYNDROME | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Poirier-Bienvenu neurodevelopmental syndrome | ClinVar | PMID:30655572 | CSNK2B | Human | POIRIER-BIENVENU NEURODEVELOPMENTAL SYNDROME | | IAGP | RGD:126726432|RGD:127244291|RGD:13509006|RGD:13532200|RGD:150427685|RGD:150452490|RGD:150453185|RGD:150520403|RGD:150547745|RGD:151349778|RGD:151714160|RGD:152041110|RGD:152981447|RGD:153001466|RGD:153346877|RGD:155644502|RGD:155644506|RGD:155800049|RGD:243062531|RGD:243065094|RGD:329848136|RGD:329848485|RGD:329953172|RGD:38464876|RGD:38467344|RGD:38598533|RGD:401856218|RGD:401907172|RGD:405261912|RGD:405261932|RGD:407429129|RGD:408380555|RGD:40886685|RGD:40886873|RGD:596921923|RGD:596925474|RGD:596943964|RGD:597714278|RGD:598122469|RGD:598233121|RGD:617151249 | 8554872 | ClinVar Annotator: match by term: Poirier-Bienvenu neurodevelopmental syndrome | ClinVar | PMID:25741868 | CSNK2B | Human | POIRIER-BIENVENU NEURODEVELOPMENTAL SYNDROME | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Poirier-Bienvenu neurodevelopmental syndrome | ClinVar | PMID:25741868|PMID:28492532|PMID:33644862|PMID:34041744|PMID:35571680 | CSNK2B | Human | POIRIER-BIENVENU NEURODEVELOPMENTAL SYNDROME | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Poirier-Bienvenu neurodevelopmental syndrome | ClinVar | PMID:25741868|PMID:34370157|PMID:35571680|PMID:35774559 | CSNK2B | Human | POIRIER-BIENVENU NEURODEVELOPMENTAL SYNDROME | | IAGP | RGD:21068817|RGD:21068819|RGD:21068821 | 8554872 | ClinVar Annotator: match by term: Poirier-Bienvenu neurodevelopmental syndrome | ClinVar | PMID:31784560 | CSNK2B | Human | POIRIER-BIENVENU NEURODEVELOPMENTAL SYNDROME | | IAGP | RGD:14746803|RGD:152154015|RGD:152978339|RGD:152980474|RGD:152982371|RGD:152982372|RGD:152982833|RGD:155794728|RGD:243055741|RGD:42723660 | 8554872 | ClinVar Annotator: match by term: Poirier-Bienvenu neurodevelopmental syndrome | ClinVar | | CSNK2B | Human | POIRIER-BIENVENU NEURODEVELOPMENTAL SYNDROME | | IAGP | RGD:150557111|RGD:40815854 | 8554872 | ClinVar Annotator: match by term: Poirier-Bienvenu neurodevelopmental syndrome | ClinVar | PMID:25741868|PMID:31784560 | CSNK2B | Human | POIRIER-BIENVENU NEURODEVELOPMENTAL SYNDROME | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Poirier-Bienvenu neurodevelopmental syndrome | ClinVar | PMID:25741868|PMID:28585349|PMID:31780880|PMID:34041744 | CSNK2B | Human | POIRIER-BIENVENU NEURODEVELOPMENTAL SYNDROME | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Poirier-Bienvenu neurodevelopmental syndrome | ClinVar | PMID:29758562 | CSNK2B | Human | POIRIER-BIENVENU NEURODEVELOPMENTAL SYNDROME | | IAGP | RGD:155796560|RGD:407429131 | 8554872 | ClinVar Annotator: match by term: Poirier-Bienvenu neurodevelopmental syndrome | ClinVar | PMID:25741868|PMID:35571680 | CSNK2B | Human | POIRIER-BIENVENU NEURODEVELOPMENTAL SYNDROME | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Poirier-Bienvenu neurodevelopmental syndrome | ClinVar | PMID:25741868|PMID:33166063|PMID:34041744 | CSNK2B | Human | POIRIER-BIENVENU NEURODEVELOPMENTAL SYNDROME | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Poirier-Bienvenu neurodevelopmental syndrome | ClinVar | PMID:11574463|PMID:25741868|PMID:30655572|PMID:31784560 | CSNK2B | Human | POIRIER-BIENVENU NEURODEVELOPMENTAL SYNDROME | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Poirier-Bienvenu neurodevelopmental syndrome | ClinVar | PMID:28585349|PMID:31784560 | CSNK2B | Human | POIRIER-BIENVENU NEURODEVELOPMENTAL SYNDROME | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Poirier-Bienvenu neurodevelopmental syndrome | ClinVar | PMID:28762608 | CSNK2B | Human | POIRIER-BIENVENU NEURODEVELOPMENTAL SYNDROME | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Poirier-Bienvenu neurodevelopmental syndrome | ClinVar | PMID:28585349 | CSNK2B | Human | proteasome-associated autoinflammatory syndrome 1 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 | ClinVar | PMID:28492532 | CSNK2B | Human | syndactyly | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Syndactyly | ClinVar | PMID:25741868|PMID:28492532|PMID:33644862|PMID:34041744|PMID:35571680 | |