Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | autosomal recessive limb-girdle muscular dystrophy | | ISO | ANO5 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:17008331 more ... | autosomal recessive limb-girdle muscular dystrophy type 2L | | ISO | ANO5 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:16199547 more ... | distal myopathy | | ISO | ANO5 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Distal muscle weakness | ClinVar | PMID:22499103 more ... | distal myopathy | | ISO | ANO5 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Distal muscle weakness | ClinVar | PMID:22499103 more ... | fructose-1,6-bisphosphatase deficiency | | ISO | ANO5 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Fructose-1-phosphate aldolase deficiency | ClinVar | PMID:20096397 more ... | genetic disease | | ISO | ANO5 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:23606453 more ... | gnathodiaphyseal dysplasia | | ISO | ANO5 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:15124103 more ... | hereditary fructose intolerance syndrome | | ISO | ANO5 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Fructose-1 and 6-bisphosphate aldolase B deficiency | ClinVar | PMID:20096397 more ... | intellectual disability | | ISO | ANO5 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Intellectual disability | ClinVar | PMID:20096397 more ... | isolated elevated serum creatine phosphokinase levels | | ISO | ANO5 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:20096397 more ... | limb-girdle muscular dystrophy | | ISO | ANO5 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Limb-girdle muscular dystrophy | ClinVar | PMID:23606453 more ... | Miyoshi muscular dystrophy | | ISO | ANO5 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Miyoshi myopathy | ClinVar | PMID:18414213 more ... | Miyoshi muscular dystrophy | | ISO | ANO5 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Miyoshi myopathy | ClinVar | PMID:17576681 more ... | Miyoshi muscular dystrophy 3 | | ISO | ANO5 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:17132147 more ... | muscular disease | | ISO | ANO5 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Muscle disorders | ClinVar | PMID:20096397 more ... | muscular dystrophy | | ISO | ANO5 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Muscular dystrophy | ClinVar | PMID:21186264 more ... | myopathy | | ISO | ANO5 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Myopathy | ClinVar | PMID:20096397 more ... | polycystic kidney disease | | ISO | ANO5 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Kidney and Polycystic | ClinVar | PMID:20096397 more ... | | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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Imported Disease Annotations - OMIM
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