Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | congenital disorder of glycosylation type IIb | | ISO | CYP26B1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 2B | ClinVar | PMID:24716661 more ... | Craniosynostosis Syndrome, Autosomal Recessive | | ISO | CYP26B1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Craniosynostosis syndrome | ClinVar | PMID:25741868 and PMID:31837199 | dystonia | | ISO | CYP26B1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Dystonia | ClinVar | PMID:16697227 more ... | genetic disease | | ISO | CYP26B1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:25741868 and PMID:28492532 | Methylmalonyl-CoA Epimerase Deficiency | | ISO | CYP26B1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA III | ClinVar | PMID:16697227 more ... | Radiohumeral Fusions with Other Skeletal and Craniofacial Anomalies | | ISO | CYP26B1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Radiohumeral fusions with other skeletal and craniofacial anomalies | ClinVar | PMID:22019272 and PMID:25741868 | | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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