Imported Disease Annotations - ClinVarObject Symbol | Species | Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | SETD2 | Pig | Agenesis of Corpus Callosum | | ISO | SETD2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Corpus callosum agenesis | ClinVar | PMID:25741868 more ... | SETD2 | Pig | autism spectrum disorder | | ISO | SETD2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Autism spectrum disorder | ClinVar | PMID:25741868 | SETD2 | Pig | autistic disorder | | ISO | SETD2 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:25741868 and PMID:28492532 | SETD2 | Pig | Autosomal Dominant Intellectual Developmental Disorder 70 | | ISO | SETD2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Intellectual developmental disorder and autosomal dominant 70 | ClinVar | PMID:25741868 more ... | SETD2 | Pig | cerebellar hypoplasia | | ISO | SETD2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Congenital cerebellar hypoplasia | ClinVar | PMID:25741868 more ... | SETD2 | Pig | childhood acute megakaryoblastic leukemia | | ISO | SETD2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Acute megakaryoblastic leukemia without down syndrome | ClinVar | PMID:27993330 | SETD2 | Pig | Dandy-Walker syndrome | | ISO | SETD2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Dandy-Walker syndrome | ClinVar | PMID:31474318 | SETD2 | Pig | Developmental Disease | | ISO | SETD2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Developmental disorder | ClinVar | PMID:25741868 | SETD2 | Pig | epilepsy | | ISO | SETD2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Seizure | ClinVar | | SETD2 | Pig | genetic disease | | ISO | SETD2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:20864444 more ... | SETD2 | Pig | hydrocephalus | | ISO | SETD2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Ventriculomegaly | ClinVar | PMID:31474318 | SETD2 | Pig | intellectual disability | | ISO | SETD2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Intellectual disability | ClinVar | PMID:25741868 | SETD2 | Pig | Luscan-Lumish Syndrome | | ISO | SETD2 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:17576681 more ... | SETD2 | Pig | Neurodevelopmental Disorders | | ISO | SETD2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Neurodevelopmental disorder | ClinVar | PMID:25741868 | SETD2 | Pig | Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy | | ISO | SETD2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Microcephaly more ... | ClinVar | PMID:28492532 | SETD2 | Pig | teratoma | | ISO | SETD2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Teratoma | ClinVar | | SETD2 | Pig | Ventriculomegaly | | ISO | SETD2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Ventriculomegaly | ClinVar | PMID:31474318 | | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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Imported Disease Annotations - CTD
Imported Disease Annotations - OMIM
Gene Ontology Annotations Click to see Annotation Detail View
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