Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | amenorrhea | | ISO | CDK13 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Primary amenorrhea | ClinVar | PMID:21681106 | autism spectrum disorder | | ISO | CDK13 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Autism spectrum disorder | ClinVar | PMID:15632290 more ... | autosomal dominant Wolfram syndrome | | ISO | CDK13 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Wolfram-like disorder | ClinVar | PMID:25741868 more ... | congenital heart defects, dysmorphic facial features, and intellectual developmental disorder | | ISO | CDK13 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:15632290 more ... | Developmental Disabilities | | ISO | CDK13 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Global developmental delay | ClinVar | PMID:25741868 more ... | epilepsy | | ISO | CDK13 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Seizure | ClinVar | | genetic disease | | ISO | CDK13 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:15632290 more ... | Greig cephalopolysyndactyly syndrome | | ISO | CDK13 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Greig cephalopolysyndactyly syndrome | ClinVar | PMID:10441570 more ... | intellectual disability | | ISO | CDK13 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Intellectual disability | ClinVar | PMID:25741868 and PMID:28492532 | Marfanoid Mental Retardation Syndrome, Autosomal | | ISO | CDK13 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability | ClinVar | PMID:25741868 more ... | Neurodevelopmental Disorders | | ISO | CDK13 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Neurodevelopmental disorder | ClinVar | PMID:25741868 | pleomorphic xanthoastrocytoma | | ISO | CDK13 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma | ClinVar | PMID:28299358 | | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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Imported Disease Annotations - OMIM
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