Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | autistic disorder | | ISO | ARHGEF6 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Autism | ClinVar | PMID:21681106 and PMID:30208311 | Christianson syndrome | | ISO | ARHGEF6 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Christianson syndrome | ClinVar | PMID:15319456 more ... | Chromosome Xq26.3 Duplication Syndrome | | ISO | ARHGEF6 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Chromosome Xq26.3 duplication syndrome | ClinVar | PMID:25712922 and PMID:26935837 | Congenital Heart Defects, Multiple Types, 1, X-Linked | | ISO | ARHGEF6 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Heterotaxy more ... | ClinVar | PMID:15319456 more ... | genetic disease | | ISO | ARHGEF6 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:18414213 more ... | intellectual disability | | ISO | ARHGEF6 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Intellectual disability | ClinVar | PMID:25741868 | Leukoencephalopathies | | ISO | ARHGEF6 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: CACH/VWM syndrome | ClinVar | PMID:25741868 | leukoencephalopathy with vanishing white matter | | ISO | ARHGEF6 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Leukoencephalopathy with vanishing white matter | ClinVar | PMID:25741868 | Neurodevelopmental Disorders | | ISO | ARHGEF6 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:11017088 more ... | non-syndromic X-linked intellectual disability | | ISO | ARHGEF6 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Non-syndromic X-linked intellectual disability | ClinVar | PMID:25741868 and PMID:28492532 | non-syndromic X-linked intellectual disability 46 | | ISO | ARHGEF6 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Intellectual disability and X-linked 46 | ClinVar | PMID:11017088 more ... | syndromic X-linked intellectual disability Lubs type | | ISO | ARHGEF6 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type | ClinVar | PMID:25741868 | X-linked hyper IgM syndrome | | ISO | ARHGEF6 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hyper-IgM syndrome type 1 | ClinVar | PMID:15319456 more ... | | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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