Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 6 | | ISO | DNA2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Mitochondrial DNA deletion syndrome with progressive myopathy | ClinVar | PMID:23352259 more ... | congenital myopathy | | ISO | DNA2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Congenital myopathy | ClinVar | PMID:25741868 | genetic disease | | ISO | DNA2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:16199547 more ... | isolated growth hormone deficiency type IA | | ISO | DNA2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Pituitary dwarfism 1 | ClinVar | PMID:24389050 and PMID:25558065 | long QT syndrome | | ISO | DNA2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Long QT syndrome | ClinVar | PMID:26132555 | microcephaly | | ISO | DNA2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Microcephaly | ClinVar | PMID:25741868 and PMID:28492532 | Rothmund-Thomson syndrome | | ISO | DNA2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Rothmund-Thomson syndrome | ClinVar | PMID:25741868 | Seckel syndrome 8 | | ISO | DNA2 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:24389050 more ... | | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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Imported Disease Annotations - OMIM
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