Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | alkaptonuria | | ISO | ADCY5 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Alkaptonuria | ClinVar | PMID:12501223 more ... | distal myopathy 4 | | ISO | ADCY5 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Distal myopathy with posterior leg and anterior hand involvement | ClinVar | PMID:25741868 | Dyskinesia with Orofacial Involvement | | ISO | ADCY5 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Dyskinesia more ... | ClinVar | PMID:24700542 more ... | Dyskinesia with Orofacial Involvement, Autosomal Dominant | | ISO | ADCY5 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Dyskinesia with orofacial involvement and autosomal dominant | ClinVar | PMID:1003446 more ... | Dyskinesia with Orofacial Involvement, Autosomal Recessive | | ISO | ADCY5 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Dyskinesia with orofacial involvement and autosomal recessive | ClinVar | PMID:25741868 more ... | familial hypocalciuric hypercalcemia | | ISO | ADCY5 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia | ClinVar | PMID:28492532 | Familial Thoracic Aortic Aneurysm 7 | | ISO | ADCY5 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Aortic aneurysm and familial thoracic 7 | ClinVar | PMID:21055718 more ... | genetic disease | | ISO | ADCY5 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:11310626 more ... | language disorder | | ISO | ADCY5 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Language disorder | ClinVar | | NEURODEVELOPMENTAL DISORDER WITH HYPERKINETIC MOVEMENTS AND DYSKINESIA | | ISO | ADCY5 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Neurodevelopmental disorder with hyperkinetic movements and dyskinesia | ClinVar | PMID:25741868 more ... | Primary Lymphedema with Myelodysplasia | | ISO | ADCY5 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:19449416 more ... | | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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Imported Disease Annotations - CTD
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