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Imported Disease Annotations - ClinVarObject Symbol | Species | Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | ADCY9 | Human | epilepsy | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Epilepsy | ClinVar | PMID:28492532 | ADCY9 | Human | Idiopathic Generalized Epilepsy | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Idiopathic generalized epilepsy | ClinVar | PMID:28492532 | ADCY9 | Human | Kohlschutter-Tonz syndrome | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome | ClinVar | PMID:28492532 | ADCY9 | Human | Neurodevelopmental Disorders | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Neurodevelopmental disorder | ClinVar | PMID:25741868 | ADCY9 | Human | Rubinstein-Taybi syndrome | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Rubinstein-Taybi syndrome | ClinVar | PMID:12114483 more ... | ADCY9 | Human | Rubinstein-Taybi syndrome | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Rubinstein-Taybi syndrome | ClinVar | PMID:18688873 more ... | ADCY9 | Human | Rubinstein-Taybi syndrome | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 1 | ClinVar | PMID:15706485 and PMID:28492532 | ADCY9 | Human | Rubinstein-Taybi syndrome | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Rubinstein-Taybi syndrome | ClinVar | PMID:17052327 more ... | ADCY9 | Human | short-rib thoracic dysplasia 9 with or without polydactyly | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Saldino-Mainzer syndrome | ClinVar | PMID:28492532 | |