Imported Disease Annotations - ClinVarObject Symbol | Species | Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | Apln | Squirrel | autistic disorder | | ISO | APLN (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Autism | ClinVar | PMID:21681106 and PMID:30208311 | Apln | Squirrel | autosomal hemophilia A | | ISO | APLN (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A | ClinVar | PMID:31690835 | Apln | Squirrel | Charcot-Marie-Tooth disease type X | | ISO | APLN (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy X | ClinVar | PMID:17436253 more ... | Apln | Squirrel | factor VIII deficiency | | ISO | APLN (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Factor 8 deficiency and congenital | ClinVar | PMID:31690835 | Apln | Squirrel | oculocerebrorenal syndrome | | ISO | APLN (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Lowe syndrome | ClinVar | PMID:22965764 and PMID:28492532 | Apln | Squirrel | syndromic X-linked intellectual disability Lubs type | | ISO | APLN (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type | ClinVar | PMID:25741868 | Apln | Squirrel | syndromic X-linked intellectual disability Raymond type | | ISO | APLN (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Raymond type | ClinVar | PMID:17436253 more ... | | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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Imported Disease Annotations - CTD
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