Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency | | ISO | ALDH4A1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase | ClinVar | PMID:28492532 | chromosome 1p36 deletion syndrome | | ISO | ALDH4A1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome | ClinVar | | congenital disorder of glycosylation Ir | | ISO | ALDH4A1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Congenital disorder of glycosylation type Ir | ClinVar | PMID:28492532 | genetic disease | | ISO | ALDH4A1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:25741868 and PMID:28492532 | hyperprolinemia | | ISO | ALDH4A1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hyperprolinemia | ClinVar | | hyperprolinemia type 2 | | ISO | ALDH4A1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hyperprolinemia type 2 | ClinVar | PMID:16199547 more ... | intellectual disability | | ISO | ALDH4A1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Intellectual disability | ClinVar | PMID:25741868 and PMID:28492532 | Parkinson's disease 6 | | ISO | ALDH4A1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 | ClinVar | PMID:28492532 | | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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