Imported Disease Annotations - ClinVarObject Symbol | Species | Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | CASK | Pig | Acholinesterasemia | | ISO | CASK (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Acholinesterasemia | ClinVar | PMID:25741868 | CASK | Pig | autistic disorder | | ISO | CASK (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Autism | ClinVar | PMID:21681106 and PMID:30208311 | CASK | Pig | Butyrylcholinesterase Deficiency | | ISO | CASK (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Deficiency of butyrylcholine esterase | ClinVar | PMID:25741868 | CASK | Pig | cerebellar hypoplasia | | ISO | CASK (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Congenital cerebellar hypoplasia | ClinVar | PMID:21735175 more ... | CASK | Pig | Developmental Disabilities | | ISO | CASK (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Global developmental delay | ClinVar | PMID:25741868 and PMID:32581362 | CASK | Pig | Developmental Disease | | ISO | CASK (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Developmental disorder | ClinVar | PMID:25741868 | CASK | Pig | dystonia | | ISO | CASK (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Dystonic disorder | ClinVar | PMID:20029458 more ... | CASK | Pig | epilepsy | | ISO | CASK (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Seizure | ClinVar | PMID:25741868 and PMID:28492532 | CASK | Pig | FG syndrome | | ISO | CASK (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: FG syndrome | ClinVar | PMID:25741868 | CASK | Pig | FG Syndrome 4 | | ISO | CASK (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:18414213 more ... | CASK | Pig | genetic disease | | ISO | CASK (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:18414213 more ... | CASK | Pig | intellectual disability | | ISO | CASK (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Intellectual disability | ClinVar | PMID:25741868 and PMID:28492532 | CASK | Pig | Nervous System Malformations | | ISO | CASK (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Abnormality of the nervous system | ClinVar | PMID:25741868 more ... | CASK | Pig | Neurodevelopmental Disorders | | ISO | CASK (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Neurodevelopmental disorder | ClinVar | PMID:25741868 | CASK | Pig | prostate cancer | | ISO | CASK (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Malignant tumor of prostate | ClinVar | PMID:23265383 | CASK | Pig | Smith-Magenis syndrome | | ISO | CASK (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Smith-Magenis Syndrome-like | ClinVar | PMID:25741868 and PMID:27799067 | CASK | Pig | syndromic X-linked intellectual disability | | ISO | CASK (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: X-linked syndromic intellectual disability | ClinVar | PMID:22452838 and PMID:25741868 | CASK | Pig | syndromic X-linked intellectual disability Hedera type | | ISO | CASK (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Hedera type | ClinVar | PMID:23901204 more ... | CASK | Pig | syndromic X-linked intellectual disability Lubs type | | ISO | CASK (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type | ClinVar | PMID:25741868 | CASK | Pig | syndromic X-linked intellectual disability Najm type | | ISO | CASK (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:16199547 more ... | | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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Imported Disease Annotations - CTD
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