Imported Disease Annotations - ClinVarObject Symbol | Species | Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | Atp7a | Squirrel | alpha thalassemia-X-linked intellectual disability syndrome | | ISO | ATP7A (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Alpha thalassemia-X-linked intellectual disability syndrome | ClinVar | PMID:11241493 more ... | Atp7a | Squirrel | Au-Kline Syndrome | | ISO | ATP7A (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Au-Kline syndrome | ClinVar | PMID:25741868 and PMID:28492532 | Atp7a | Squirrel | autistic disorder | | ISO | ATP7A (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Autism | ClinVar | PMID:21681106 and PMID:30208311 | Atp7a | Squirrel | autosomal hemophilia A | | ISO | ATP7A (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A | ClinVar | PMID:31690835 | Atp7a | Squirrel | Charcot-Marie-Tooth disease | | ISO | ATP7A (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease | ClinVar | PMID:14985388 more ... | Atp7a | Squirrel | Charcot-Marie-Tooth disease type 2 | | ISO | ATP7A (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 | ClinVar | PMID:20170900 more ... | Atp7a | Squirrel | Ehlers-Danlos syndrome | | ISO | ATP7A (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Ehlers-Danlos syndrome | ClinVar | PMID:10570920 more ... | Atp7a | Squirrel | factor VIII deficiency | | ISO | ATP7A (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Factor 8 deficiency and congenital | ClinVar | PMID:31690835 | Atp7a | Squirrel | genetic disease | | ISO | ATP7A (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:10570920 more ... | Atp7a | Squirrel | genetic disease | | ISO | ATP7A (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:10570920 more ... | Atp7a | Squirrel | intellectual disability | | ISO | ATP7A (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Intellectual disability | ClinVar | PMID:25741868 and PMID:28492532 | Atp7a | Squirrel | Menkes disease | | ISO | ATP7A (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:10319589 more ... | Atp7a | Squirrel | Menkes disease | | ISO | ATP7A (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:10319589 more ... | Atp7a | Squirrel | occipital horn syndrome | | ISO | ATP7A (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:10319589 more ... | Atp7a | Squirrel | syndromic X-linked intellectual disability Lubs type | | ISO | ATP7A (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type | ClinVar | PMID:25741868 | Atp7a | Squirrel | X-linked distal spinal muscular atrophy 3 | | ISO | ATP7A (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:10570920 more ... | Atp7a | Squirrel | X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia | | ISO | ATP7A (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: X-linked immunodeficiency with magnesium defect and Epstein-Barr virus infection and neoplasia | ClinVar | PMID:24550228 and PMID:28492532 | Atp7a | Squirrel | X-linked spinocerebellar ataxia 1 | | ISO | ATP7A (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Spinocerebellar ataxia and X-linked | ClinVar | PMID:26242992 | | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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