Imported Disease Annotations - ClinVarObject Symbol | Species | Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | PHLPP1 | Human | chromosome 18q deletion syndrome | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Monosomy 18q and deletion 18q | ClinVar | PMID:25741868 | PHLPP1 | Human | chromosome 18q deletion syndrome | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Monosomy 18q and deletion 18q | ClinVar | PMID:31690835 | PHLPP1 | Human | epilepsy | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Seizure | ClinVar | PMID:25741868 | PHLPP1 | Human | intellectual disability | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Intellectual disability | ClinVar | | PHLPP1 | Human | multiple congenital anomalies-hypotonia-seizures syndrome 1 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 | ClinVar | PMID:28492532 | PHLPP1 | Human | multiple congenital anomalies-hypotonia-seizures syndrome 1 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 | ClinVar | PMID:10677500 more ... | |