Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency | | ISO | CAMK2N1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase | ClinVar | PMID:28492532 | congenital disorder of glycosylation Ir | | ISO | CAMK2N1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Congenital disorder of glycosylation type Ir | ClinVar | PMID:28492532 | hyperprolinemia type 2 | | ISO | CAMK2N1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hyperprolinemia type 2 | ClinVar | PMID:28492532 | Parkinson's disease 6 | | ISO | CAMK2N1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 | ClinVar | PMID:28492532 | | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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