Imported Disease Annotations - ClinVarObject Symbol | Species | Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | Lcnl1 | Chinchilla | Adams-Oliver Syndrome 5 | | ISO | LCNL1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Adams-Oliver syndrome 5 | ClinVar | PMID:16025100 more ... | Lcnl1 | Chinchilla | autosomal dominant intellectual developmental disorder 8 | | ISO | LCNL1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures and autosomal dominant | ClinVar | PMID:28492532 | Lcnl1 | Chinchilla | autosomal dominant nocturnal frontal lobe epilepsy 5 | | ISO | LCNL1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 | ClinVar | PMID:28492532 | Lcnl1 | Chinchilla | developmental and epileptic encephalopathy 14 | | ISO | LCNL1 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:16025100 more ... | Lcnl1 | Chinchilla | epilepsy | | ISO | LCNL1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Epilepsy | ClinVar | | Lcnl1 | Chinchilla | Joubert syndrome 1 | | ISO | LCNL1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar | PMID:16025100 more ... | Lcnl1 | Chinchilla | Kleefstra syndrome 1 | | ISO | LCNL1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Kleefstra syndrome 1 | ClinVar | PMID:19264732 more ... | Lcnl1 | Chinchilla | Leigh disease | | ISO | LCNL1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Leigh syndrome | ClinVar | PMID:28492532 | Lcnl1 | Chinchilla | primary coenzyme Q10 deficiency 7 | | ISO | LCNL1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome | ClinVar | PMID:28492532 | Lcnl1 | Chinchilla | Rafiq syndrome | | ISO | LCNL1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Rafiq syndrome | ClinVar | PMID:24566669 more ... | Lcnl1 | Chinchilla | tuberous sclerosis 1 | | ISO | LCNL1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Tuberous sclerosis 1 | ClinVar | PMID:28492532 | | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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