Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | genetic disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:28492532 | genetic disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | genetic disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | genetic disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | genetic disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:28492532 | genetic disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | genetic disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | genetic disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:28492532 | genetic disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:28492532 | genetic disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | genetic disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:28492532 | genetic disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | genetic disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:28492532 | genetic disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | genetic disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | genetic disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:25741868 and PMID:28492532 | genetic disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:28492532 | genetic disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:28492532 | genetic disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | genetic disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:28492532 | genetic disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:28492532 | genetic disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | genetic disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | genetic disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:28492532 | genetic disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | genetic disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:28492532 | genetic disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | genetic disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:28492532 | genetic disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | genetic disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:28492532 | genetic disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | genetic disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | genetic disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | genetic disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:25741868 | genetic disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:28492532 | genetic disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:28492532 | genetic disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | genetic disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | genetic disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | genetic disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | genetic disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:25741868 and PMID:28492532 | genetic disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | genetic disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:25741868 and PMID:28492532 | genetic disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | genetic disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | Perinatal Death | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Neonatal death | ClinVar | PMID:25558065 | Raine Syndrome | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Lethal osteosclerotic bone dysplasia | ClinVar | PMID:32093234 | Raine Syndrome | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Lethal osteosclerotic bone dysplasia | ClinVar | PMID:17924334 more ... | Raine Syndrome | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Lethal osteosclerotic bone dysplasia | ClinVar | PMID:19250384 and PMID:28492532 | Raine Syndrome | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Lethal osteosclerotic bone dysplasia | ClinVar | PMID:25741868 and PMID:28492532 | Raine Syndrome | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Lethal osteosclerotic bone dysplasia | ClinVar | PMID:25741868 and PMID:28492532 | Raine Syndrome | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Lethal osteosclerotic bone dysplasia | ClinVar | PMID:25741868 and PMID:28492532 | Raine Syndrome | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Lethal osteosclerotic bone dysplasia | ClinVar | PMID:25741868 and PMID:28492532 | Raine Syndrome | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Lethal osteosclerotic bone dysplasia | ClinVar | PMID:25741868 and PMID:28492532 | Raine Syndrome | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: FAM20C-related condition | ClinVar | PMID:17924334 more ... | Raine Syndrome | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Lethal osteosclerotic bone dysplasia | ClinVar | PMID:25741868 | Raine Syndrome | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Lethal osteosclerotic bone dysplasia | ClinVar | PMID:25741868 and PMID:28492532 | Raine Syndrome | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Lethal osteosclerotic bone dysplasia | ClinVar | PMID:25741868 and PMID:28492532 | Raine Syndrome | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Lethal osteosclerotic bone dysplasia | ClinVar | PMID:25741868 and PMID:28492532 | Raine Syndrome | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Lethal osteosclerotic bone dysplasia | ClinVar | PMID:25741868 | Raine Syndrome | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Lethal osteosclerotic bone dysplasia | ClinVar | PMID:25741868 and PMID:28492532 | Raine Syndrome | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Lethal osteosclerotic bone dysplasia | ClinVar | PMID:25741868 and PMID:28492532 | Raine Syndrome | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Lethal osteosclerotic bone dysplasia | ClinVar | PMID:27862258 | Raine Syndrome | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Lethal osteosclerotic bone dysplasia | ClinVar | PMID:27862258 | Raine Syndrome | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Lethal osteosclerotic bone dysplasia | ClinVar | PMID:25741868 and PMID:28492532 | Raine Syndrome | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Lethal osteosclerotic bone dysplasia | ClinVar | PMID:25741868 | Raine Syndrome | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Lethal osteosclerotic bone dysplasia | ClinVar | PMID:25741868 and PMID:28492532 | Raine Syndrome | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Lethal osteosclerotic bone dysplasia | ClinVar | PMID:25741868 | Raine Syndrome | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Lethal osteosclerotic bone dysplasia | ClinVar | PMID:25741868 and PMID:28492532 | Raine Syndrome | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Lethal osteosclerotic bone dysplasia | ClinVar | PMID:25741868 | Raine Syndrome | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Lethal osteosclerotic bone dysplasia | ClinVar | PMID:24033266 more ... | Raine Syndrome | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Lethal osteosclerotic bone dysplasia | ClinVar | PMID:24033266 more ... | Raine Syndrome | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Lethal osteosclerotic bone dysplasia | ClinVar | PMID:25741868 | Raine Syndrome | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Lethal osteosclerotic bone dysplasia | ClinVar | PMID:25741868 | Raine Syndrome | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Lethal osteosclerotic bone dysplasia | ClinVar | PMID:25741868 | Raine Syndrome | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Raine syndrome | ClinVar | PMID:24033266 and PMID:28492532 | Raine Syndrome | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Raine syndrome | ClinVar | PMID:17924334 | Raine Syndrome | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Raine syndrome | ClinVar | PMID:17924334 | Raine Syndrome | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Raine syndrome | ClinVar | PMID:20825432 | Raine Syndrome | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Raine syndrome | ClinVar | PMID:17924334 | Raine Syndrome | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Raine syndrome | ClinVar | PMID:14564151 and PMID:17924334 | Raine Syndrome | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Raine syndrome | ClinVar | PMID:12868469 and PMID:17924334 | Raine Syndrome | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Raine syndrome | ClinVar | PMID:17924334 | Raine Syndrome | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Raine syndrome | ClinVar | PMID:17924334 | Raine Syndrome | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Raine syndrome | ClinVar | | Raine Syndrome | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Raine syndrome | ClinVar | PMID:19250384 | Raine Syndrome | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Lethal osteosclerotic bone dysplasia | ClinVar | PMID:25741868 and PMID:28492532 | Raine Syndrome | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Raine syndrome | ClinVar | PMID:19250384 | |