Imported Disease Annotations - ClinVarObject Symbol | Species | Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | CACNA1I | Green Monkey | adenylosuccinase lyase deficiency | | ISO | CACNA1I (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency | ClinVar | PMID:28492532 | CACNA1I | Green Monkey | Developmental Disabilities | | ISO | CACNA1I (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Global developmental delay | ClinVar | | CACNA1I | Green Monkey | hydrocephalus | | ISO | CACNA1I (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Ventriculomegaly | ClinVar | PMID:25741868 | CACNA1I | Green Monkey | long QT syndrome | | ISO | CACNA1I (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar | | CACNA1I | Green Monkey | Neurodevelopmental Disorder with Speech Impairment and with or without Seizures | | ISO | CACNA1I (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:25741868 more ... | CACNA1I | Green Monkey | Rubinstein-Taybi syndrome | | ISO | CACNA1I (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2 | ClinVar | PMID:28492532 | CACNA1I | Green Monkey | Ventriculomegaly | | ISO | CACNA1I (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Ventriculomegaly | ClinVar | PMID:25741868 | | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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Imported Disease Annotations - OMIM
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