Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | autism spectrum disorder | | ISO | RGD:11050297 | 9068941 | ClinVar Annotator: match by term: Autism spectrum disorders | ClinVar | PMID:11391650 more ... | autism spectrum disorder | | ISO | RGD:11050291 | 9068941 | ClinVar Annotator: match by term: Autism spectrum disorders | ClinVar | PMID:11391650 more ... | epilepsy | | ISO | RGD:13612256 | 9068941 | ClinVar Annotator: match by term: Seizures | ClinVar | PMID:25741868 | Phelan-McDermid syndrome | | ISO | RGD:38599000 | 9068941 | ClinVar Annotator: match by term: 22q13.3 deletion syndrome | ClinVar | | Phelan-McDermid syndrome | | ISO | RGD:38598993 | 9068941 | ClinVar Annotator: match by term: 22q13.3 deletion syndrome | ClinVar | | Phelan-McDermid syndrome | | ISO | RGD:38598986 | 9068941 | ClinVar Annotator: match by term: 22q13.3 deletion syndrome | ClinVar | | Phelan-McDermid syndrome | | ISO | RGD:38598998 | 9068941 | ClinVar Annotator: match by term: 22q13.3 deletion syndrome | ClinVar | | Phelan-McDermid syndrome | | ISO | RGD:38598985 | 9068941 | ClinVar Annotator: match by term: 22q13.3 deletion syndrome | ClinVar | | Phelan-McDermid syndrome | | ISO | RGD:38598997 | 9068941 | ClinVar Annotator: match by term: 22q13.3 deletion syndrome | ClinVar | | Phelan-McDermid syndrome | | ISO | RGD:38598991 | 9068941 | ClinVar Annotator: match by term: 22q13.3 deletion syndrome | ClinVar | | Phelan-McDermid syndrome | | ISO | RGD:38598999 | 9068941 | ClinVar Annotator: match by term: 22q13.3 deletion syndrome | ClinVar | | Phelan-McDermid syndrome | | ISO | RGD:38598987 | 9068941 | ClinVar Annotator: match by term: 22q13.3 deletion syndrome | ClinVar | | Phelan-McDermid syndrome | | ISO | RGD:38598990 | 9068941 | ClinVar Annotator: match by term: 22q13.3 deletion syndrome | ClinVar | | Phelan-McDermid syndrome | | ISO | RGD:38598989 | 9068941 | ClinVar Annotator: match by term: 22q13.3 deletion syndrome | ClinVar | | Phelan-McDermid syndrome | | ISO | RGD:38598995 | 9068941 | ClinVar Annotator: match by term: 22q13.3 deletion syndrome | ClinVar | | Phelan-McDermid syndrome | | ISO | RGD:38598992 | 9068941 | ClinVar Annotator: match by term: 22q13.3 deletion syndrome | ClinVar | | Phelan-McDermid syndrome | | ISO | RGD:38598988 | 9068941 | ClinVar Annotator: match by term: 22q13.3 deletion syndrome | ClinVar | | Phelan-McDermid syndrome | | ISO | RGD:38598996 | 9068941 | ClinVar Annotator: match by term: 22q13.3 deletion syndrome | ClinVar | | Phelan-McDermid syndrome | | ISO | RGD:38598994 | 9068941 | ClinVar Annotator: match by term: 22q13.3 deletion syndrome | ClinVar | | visual epilepsy | | ISO | RGD:13612256 | 9068941 | ClinVar Annotator: match by term: Seizures | ClinVar | PMID:25741868 | | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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Imported Disease Annotations - CTD
Imported Disease Annotations - OMIM
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References