Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | common variable immunodeficiency | | ISO | POLR2A (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Common variable immunodeficiency | ClinVar | PMID:28492532 | congenital myasthenic syndrome 2A | | ISO | POLR2A (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Congenital myasthenic syndrome 2A | ClinVar | PMID:28492532 | Developmental Disease | | ISO | POLR2A (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Developmental disorder | ClinVar | PMID:25741868 | dyskeratosis congenita | | ISO | POLR2A (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Dyskeratosis congenita | ClinVar | PMID:28492532 | genetic disease | | ISO | POLR2A (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:19344873 more ... | intellectual disability | | ISO | POLR2A (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Intellectual disability and mild | ClinVar | | Li-Fraumeni syndrome | | ISO | POLR2A (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Li-Fraumeni syndrome | ClinVar | PMID:20522432 more ... | NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND VARIABLE INTELLECTUAL AND BEHAVIORAL ABNORMALITIES | | ISO | POLR2A (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:24033266 more ... | Neurodevelopmental Disorders | | ISO | POLR2A (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Neurodevelopmental disorder | ClinVar | PMID:24033266 and PMID:25741868 | very long chain acyl-CoA dehydrogenase deficiency | | ISO | POLR2A (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency | ClinVar | PMID:11590124 more ... | Weissenbacher-Zweymuller syndrome | | ISO | POLR2A (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Glossoptosis more ... | ClinVar | | | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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Imported Disease Annotations - OMIM
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