Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | Bethlem Myopathy 1A | | ISO | AGXT (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Bethlem myopathy 1 | ClinVar | PMID:26004199 and PMID:28492532 | chromosome 2q37 deletion syndrome | | ISO | AGXT (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome | ClinVar | PMID:25741868 | D-2-hydroxyglutaric aciduria 1 | | ISO | AGXT (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 | ClinVar | PMID:16081310 more ... | genetic disease | | ISO | AGXT (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:25741868 and PMID:28492532 | hereditary spastic paraplegia 30 | | ISO | AGXT (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 | ClinVar | PMID:16081310 more ... | intellectual disability | | ISO | AGXT (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Intellectual disability | ClinVar | | nephrocalcinosis | | ISO | AGXT (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Nephrocalcinosis | ClinVar | PMID:10541294 more ... | nephrolithiasis | | ISO | AGXT (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Nephrolithiasis | ClinVar | PMID:10541294 more ... | nephrotic syndrome | | ISO | AGXT (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Nephrotic syndrome | ClinVar | PMID:10453743 more ... | primary hyperoxaluria | | ISO | AGXT (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Primary hyperoxaluria | ClinVar | PMID:10400689 more ... | primary hyperoxaluria type 1 | | ISO | AGXT (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Primary hyperoxaluria and type I | ClinVar | PMID:10394939 more ... | | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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Imported Disease Annotations - OMIA
Imported Disease Annotations - OMIM
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