Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | autism spectrum disorder | | ISO | GRIA1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Autism spectrum disorder | ClinVar | PMID:25741868 more ... | Autosomal Dominant Intellectual Developmental Disorder 67 | | ISO | GRIA1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Intellectual developmental disorder and autosomal dominant 67 | ClinVar | PMID:23033978 more ... | autosomal recessive intellectual developmental disorder 76 | | ISO | GRIA1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Intellectual developmental disorder and autosomal recessive 76 | ClinVar | PMID:35675825 | familial adenomatous polyposis 1 | | ISO | GRIA1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Familial adenomatous polyposis 1 | ClinVar | PMID:17963004 more ... | genetic disease | | ISO | GRIA1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:25741868 and PMID:28492532 | Hereditary Neoplastic Syndromes | | ISO | GRIA1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar | PMID:17963004 more ... | intellectual disability | | ISO | GRIA1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Intellectual disability | ClinVar | PMID:23033978 more ... | Neurodevelopmental Disorders | | ISO | GRIA1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Neurodevelopmental disorder | ClinVar | PMID:25741868 and PMID:28628100 | non-syndromic intellectual disability | | ISO | GRIA1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Non-syndromic intellectual disability | ClinVar | PMID:30504930 and PMID:35675825 | | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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