Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | alpha-mannosidosis | | ISO | JUNB (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Deficiency of alpha-mannosidase | ClinVar | PMID:28492532 | Charcot-Marie-Tooth disease dominant intermediate B | | ISO | JUNB (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B | ClinVar | PMID:28492532 | episodic ataxia type 2 | | ISO | JUNB (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Episodic ataxia type 2 | ClinVar | PMID:10371528 more ... | genetic disease | | ISO | JUNB (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | glutaric acidemia I | | ISO | JUNB (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Glutaric aciduria and type 1 | ClinVar | PMID:10371528 more ... | | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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Imported Disease Annotations - CTD
Imported Disease Annotations - MGI
Gene Ontology Annotations Click to see Annotation Detail View
Biological Process
Cellular Component
Molecular Function
Molecular Pathway Annotations Click to see Annotation Detail View
