Imported Disease Annotations - ClinVarObject Symbol | Species | Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | ATP7B | Pig | Anhaptoglobinemia | | ISO | ATP7B (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Anhaptoglobinemia | ClinVar | PMID:25741868 | ATP7B | Pig | chromosome 13q14 deletion syndrome | | ISO | ATP7B (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome | ClinVar | | ATP7B | Pig | congenital disorder of glycosylation | | ISO | ATP7B (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Congenital disorder of glycosylation | ClinVar | PMID:25741868 and PMID:28492532 | ATP7B | Pig | congenital disorder of glycosylation Ip | | ISO | ATP7B (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: ALG11-congenital disorder of glycosylation | ClinVar | PMID:10441329 more ... | ATP7B | Pig | essential tremor 1 | | ISO | ATP7B (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hand tremor | ClinVar | PMID:25741868 | ATP7B | Pig | Generalized Epilepsy | | ISO | ATP7B (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Epileptic encephalopathy | ClinVar | PMID:10790207 more ... | ATP7B | Pig | genetic disease | | ISO | ATP7B (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:32685348 more ... | ATP7B | Pig | genetic disease | | ISO | ATP7B (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:1000228 more ... | ATP7B | Pig | intellectual disability | | ISO | ATP7B (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Intellectual disability | ClinVar | | ATP7B | Pig | Mental Retardation Wolff Type | | ISO | ATP7B (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Wolff Zimmermann syndrome | ClinVar | PMID:10441329 more ... | ATP7B | Pig | spastic ataxia | | ISO | ATP7B (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Spastic ataxia | ClinVar | PMID:10441329 more ... | ATP7B | Pig | Wilson disease | | ISO | ATP7B (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Wilson disease | ClinVar | PMID:25465132 more ... | ATP7B | Pig | Wilson disease | | ISO | ATP7B (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Wilson disease | ClinVar | PMID:1000228 more ... | ATP7B | Pig | Wilson disease | | ISO | ATP7B (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:26207595 more ... | | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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Imported Disease Annotations - CTD
Imported Disease Annotations - OMIM
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