Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | genetic disease | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | immunodeficiency-centromeric instability-facial anomalies syndrome 1 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Centromeric instability of chromosomes 1 and 9 and 16 and immunodeficiency | ClinVar | PMID:28492532 | oligospermia | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Oligospermia | ClinVar | | retinitis pigmentosa 89 | | IAGP | (Homo sapiens) and (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Retinitis pigmentosa 89 | ClinVar | PMID:32386558 | retinitis pigmentosa 89 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Retinitis pigmentosa 89 | ClinVar | PMID:25741868 | |