Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency | | ISO | ECE1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase | ClinVar | PMID:28492532 | congenital disorder of glycosylation Ir | | ISO | ECE1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Congenital disorder of glycosylation type Ir | ClinVar | PMID:28492532 | genetic disease | | ISO | ECE1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | Hirschsprung Disease, Cardiac Defects, and Autonomic Dysfunction | | ISO | ECE1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hirschsprung disease more ... | ClinVar | PMID:25741868 more ... | Hirschsprung's disease | | ISO | ECE1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Aganglionic megacolon | ClinVar | | hyperprolinemia type 2 | | ISO | ECE1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hyperprolinemia type 2 | ClinVar | PMID:28492532 | Parkinson's disease 6 | | ISO | ECE1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 | ClinVar | PMID:28492532 | | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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Imported Disease Annotations - CTD
Imported Disease Annotations - MGI
Imported Disease Annotations - OMIM
Gene-Chemical Interaction Annotations Click to see Annotation Detail View
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