Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | autistic disorder | | ISO | PHKA2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Autism | ClinVar | PMID:21681106 and PMID:30208311 | Coffin-Lowry syndrome | | ISO | PHKA2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Coffin-Lowry syndrome | ClinVar | PMID:17304053 more ... | developmental and epileptic encephalopathy 2 | | ISO | PHKA2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Developmental and epileptic encephalopathy and 2 | ClinVar | PMID:17304053 more ... | genetic disease | | ISO | PHKA2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:10330341 more ... | glycogen storage disease IXA | | ISO | PHKA2 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:10330341 more ... | glycogen storage disease IXD | | ISO | PHKA2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Glycogen storage disease IXd | ClinVar | PMID:10330341 more ... | glycogen storage disease VIII | | ISO | PHKA2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Phosphorylase kinase deficiency of liver | ClinVar | PMID:10330341 more ... | Nance-Horan syndrome | | ISO | PHKA2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Nance-Horan syndrome | ClinVar | PMID:17304053 more ... | Neurodevelopmental Disorders | | ISO | PHKA2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Neurodevelopmental disorder | ClinVar | PMID:25741868 | Pyruvate Dehydrogenase E1 Alpha Deficiency | | ISO | PHKA2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-alpha deficiency | ClinVar | PMID:17172462 more ... | syndromic X-linked intellectual disability Lubs type | | ISO | PHKA2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type | ClinVar | PMID:25741868 | | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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Imported Disease Annotations - CTD
Imported Disease Annotations - OMIM
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