Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | autosomal recessive limb-girdle muscular dystrophy | | ISO | DYSF (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:10766988 more ... | autosomal recessive limb-girdle muscular dystrophy type 2B | | ISO | DYSF (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:10196377 more ... | congenital myopathy 5 | | ISO | DYSF (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Salih Myopathy | ClinVar | PMID:25741868 and PMID:28492532 | dilated cardiomyopathy | | ISO | DYSF (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Dilated Cardiomyopathy and Dominant | ClinVar | PMID:11468312 more ... | distal myopathy with anterior tibial onset | | ISO | DYSF (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Distal myopathy with anterior tibial onset | ClinVar | PMID:11053681 more ... | Dysferlinopathy | | ISO | DYSF (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Dysferlinopathy | ClinVar | PMID:10196377 more ... | dystonia | | ISO | DYSF (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Dystonia | ClinVar | PMID:16697227 more ... | genetic disease | | ISO | DYSF (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:17070050 more ... | Methylmalonyl-CoA Epimerase Deficiency | | ISO | DYSF (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III | ClinVar | PMID:16697227 more ... | Miyoshi muscular dystrophy | | ISO | DYSF (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:12796534 more ... | Miyoshi muscular dystrophy 1 | | ISO | DYSF (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Miyoshi muscular dystrophy 1 | ClinVar | PMID:10196377 more ... | Muscle Weakness | | ISO | DYSF (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Muscle weakness | ClinVar | PMID:25741868 | muscular dystrophy | | ISO | DYSF (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Muscular dystrophy | ClinVar | PMID:17698709 more ... | myopathy | | ISO | DYSF (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Myopathy | ClinVar | | neuropathy | | ISO | DYSF (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Peripheral neuropathy | ClinVar | PMID:17576681 more ... | peripheral nervous system disease | | ISO | DYSF (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Peripheral neuropathy | ClinVar | PMID:17576681 more ... | schizophrenia | | ISO | DYSF (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Schizophrenia | ClinVar | | | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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Imported Disease Annotations - CTD
Imported Disease Annotations - MGI
Imported Disease Annotations - OMIM
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