Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | autism spectrum disorder | | ISO | CACNA1D (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Autism spectrum disorder | ClinVar | PMID:25741868 | congenital disorder of glycosylation Iw | | ISO | CACNA1D (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Congenital disorder of glycosylation more ... | ClinVar | | epilepsy | | ISO | CACNA1D (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Seizure | ClinVar | PMID:28492532 | genetic disease | | ISO | CACNA1D (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:16199547 more ... | Hearing Loss | | ISO | CACNA1D (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hearing impairment | ClinVar | PMID:16199547 more ... | intellectual disability | | ISO | CACNA1D (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Intellectual disability | ClinVar | PMID:17576681 more ... | Primary Aldosteronism, Seizures, and Neurologic Abnormalities | | ISO | CACNA1D (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:17576681 more ... | prostate cancer | | ISO | CACNA1D (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Malignant tumor of prostate | ClinVar | PMID:23265383 | Sinoatrial Node Dysfunction and Deafness | | ISO | CACNA1D (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Sinoatrial node dysfunction and deafness | ClinVar | PMID:21131953 more ... | | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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Imported Disease Annotations - CTD
Imported Disease Annotations - OMIM
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