Imported Disease Annotations - ClinVarObject Symbol | Species | Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | SMC1A | Pig | Atkin Syndrome | | ISO | SMC1A (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Atkin Flaitz Patil Smith syndrome | ClinVar | PMID:19052029 more ... | SMC1A | Pig | autistic disorder | | ISO | SMC1A (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Autism | ClinVar | PMID:21681106 and PMID:30208311 | SMC1A | Pig | calvarial doughnut lesions with bone fragility | | ISO | SMC1A (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: CDL | ClinVar | PMID:18414213 | SMC1A | Pig | Cornelia de Lange syndrome | | ISO | SMC1A (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:18414213 more ... | SMC1A | Pig | Cornelia de Lange syndrome 1 | | ISO | SMC1A (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Cornelia de Lange syndrome 1 | ClinVar | PMID:28492532 | SMC1A | Pig | Cornelia de Lange syndrome 2 | | ISO | SMC1A (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:11532960 more ... | SMC1A | Pig | developmental and epileptic encephalopathy 85 | | ISO | SMC1A (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:17273969 more ... | SMC1A | Pig | Developmental Disabilities | | ISO | SMC1A (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Global developmental delay | ClinVar | PMID:25741868 | SMC1A | Pig | Funnel Chest | | ISO | SMC1A (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Pectus excavatum | ClinVar | PMID:25741868 | SMC1A | Pig | Generalized Epilepsy | | ISO | SMC1A (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Epileptic encephalopathy | ClinVar | PMID:25741868 more ... | SMC1A | Pig | genetic disease | | ISO | SMC1A (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:11532960 more ... | SMC1A | Pig | intellectual disability | | ISO | SMC1A (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Intellectual disability | ClinVar | PMID:25741868 | SMC1A | Pig | microcephaly | | ISO | SMC1A (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Microcephaly | ClinVar | PMID:17273969 more ... | SMC1A | Pig | Nervous System Malformations | | ISO | SMC1A (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Abnormality of the nervous system | ClinVar | PMID:25741868 | SMC1A | Pig | non-syndromic X-linked intellectual disability 1 | | ISO | SMC1A (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:19052029 more ... | SMC1A | Pig | paraplegia | | ISO | SMC1A (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Spastic paraplegia | ClinVar | PMID:28492532 | SMC1A | Pig | syndromic X-linked intellectual disability Lubs type | | ISO | SMC1A (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type | ClinVar | PMID:25741868 | SMC1A | Pig | Wiedemann-Steiner syndrome | | ISO | SMC1A (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Wiedemann-Steiner syndrome | ClinVar | PMID:25574841 | | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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Imported Disease Annotations - CTD
Imported Disease Annotations - OMIM
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