Imported Disease Annotations - ClinVarObject Symbol | Species | Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | Mapk8ip3 | Squirrel | developmental and epileptic encephalopathy 4 | | ISO | MAPK8IP3 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 4 | ClinVar | PMID:25741868 | Mapk8ip3 | Squirrel | Developmental Disabilities | | ISO | MAPK8IP3 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Global developmental delay | ClinVar | | Mapk8ip3 | Squirrel | Developmental Disease | | ISO | MAPK8IP3 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Developmental disorder | ClinVar | PMID:25741868 | Mapk8ip3 | Squirrel | epilepsy | | ISO | MAPK8IP3 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:28492532 | Mapk8ip3 | Squirrel | genetic disease | | ISO | MAPK8IP3 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:25741868 more ... | Mapk8ip3 | Squirrel | idiopathic generalized epilepsy | | ISO | MAPK8IP3 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Idiopathic generalized epilepsy | ClinVar | PMID:28492532 | Mapk8ip3 | Squirrel | NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT VARIABLE BRAIN ABNORMALITIES | | ISO | MAPK8IP3 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:25741868 more ... | Mapk8ip3 | Squirrel | Neurodevelopmental Disorders | | ISO | MAPK8IP3 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Neurodevelopmental disorder | ClinVar | PMID:25741868 more ... | Mapk8ip3 | Squirrel | short-rib thoracic dysplasia 9 with or without polydactyly | | ISO | MAPK8IP3 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Saldino-Mainzer syndrome | ClinVar | PMID:28492532 | Mapk8ip3 | Squirrel | tuberous sclerosis 2 | | ISO | MAPK8IP3 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Tuberous sclerosis 2 | ClinVar | PMID:16114042 more ... | | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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Imported Disease Annotations - CTD
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