Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | autistic disorder | | ISO | PAK3 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Autism | ClinVar | PMID:21681106 and PMID:30208311 | developmental and epileptic encephalopathy 36 | | ISO | PAK3 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Developmental and epileptic encephalopathy and 36 | ClinVar | PMID:28492532 | genetic disease | | ISO | PAK3 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:24556213 more ... | intellectual disability | | ISO | PAK3 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:18523455 and PMID:25741868 | microcephaly | | ISO | PAK3 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Microcephaly | ClinVar | | non-syndromic X-linked intellectual disability | | ISO | PAK3 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Non-syndromic X-linked intellectual disability | ClinVar | PMID:25741868 | non-syndromic X-linked intellectual disability 30 | | ISO | PAK3 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:10946356 more ... | schizophrenia | | ISO | PAK3 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Schizophrenia | ClinVar | PMID:21681106 and PMID:30208311 | syndromic X-linked intellectual disability Lubs type | | ISO | PAK3 (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 - OMIM
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