Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | autism spectrum disorder | | ISO | OPHN1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Autism spectrum disorder | ClinVar | PMID:25741868 | autistic disorder | | ISO | OPHN1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Autism | ClinVar | PMID:21681106 and PMID:30208311 | cerebellar hypoplasia | | ISO | OPHN1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Congenital cerebellar hypoplasia | ClinVar | PMID:25741868 and PMID:31474318 | epilepsy | | ISO | OPHN1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Seizure | ClinVar | | genetic disease | | ISO | OPHN1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:10818214 more ... | intellectual disability | | ISO | OPHN1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Intellectual disability | ClinVar | PMID:25741868 | syndromic X-linked intellectual disability Lubs type | | ISO | OPHN1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type | ClinVar | PMID:25741868 | X-linked mental retardation with cerebellar hypoplasia and distinctive facial appearance | | ISO | OPHN1 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:10818214 more ... | | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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Imported Disease Annotations - CTD
Imported Disease Annotations - MGI
Imported Disease Annotations - OMIM
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