Imported Disease Annotations - ClinVarObject Symbol | Species | Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | Wdr62 | Chinchilla | Brugada syndrome 5 | | ISO | WDR62 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Brugada syndrome 5 | ClinVar | PMID:28492532 | Wdr62 | Chinchilla | Developmental Disabilities | | ISO | WDR62 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Global developmental delay | ClinVar | | Wdr62 | Chinchilla | epilepsy | | ISO | WDR62 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Seizure | ClinVar | PMID:25741868 and PMID:28492532 | Wdr62 | Chinchilla | genetic disease | | ISO | WDR62 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:17576681 more ... | Wdr62 | Chinchilla | hereditary spastic paraplegia 75 | | ISO | WDR62 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 | ClinVar | PMID:28492532 | Wdr62 | Chinchilla | intellectual disability | | ISO | WDR62 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Intellectual disability | ClinVar | PMID:17576681 more ... | Wdr62 | Chinchilla | microcephaly | | ISO | WDR62 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | | Wdr62 | Chinchilla | Nervous System Malformations | | ISO | WDR62 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Abnormality of the nervous system | ClinVar | PMID:25741868 | Wdr62 | Chinchilla | NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES | | ISO | WDR62 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Abnormality of the cerebrum | ClinVar | PMID:18414213 more ... | Wdr62 | Chinchilla | primary autosomal recessive microcephaly | | ISO | WDR62 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Autosomal recessive primary microcephaly | ClinVar | PMID:20729831 more ... | Wdr62 | Chinchilla | primary autosomal recessive microcephaly 2 with or without cortical malformations | | ISO | WDR62 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:10573015 more ... | Wdr62 | Chinchilla | primary autosomal recessive microcephaly 2 with or without cortical malformations | | ISO | WDR62 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:10573015 more ... | Wdr62 | Chinchilla | Skraban-Deardorff Syndrome | | ISO | WDR62 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Skraban-Deardorff syndrome | ClinVar | PMID:25741868 | | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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Imported Disease Annotations - CTD
Imported Disease Annotations - OMIM
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