Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | asphyxiating thoracic dystrophy | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Jeune thoracic dystrophy | ClinVar | PMID:23339108 more ... | ataxia telangiectasia | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar | PMID:23807571 more ... | coloboma | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Congenital ocular coloboma | ClinVar | PMID:24462371 | genetic disease | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | intellectual disability | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Intellectual disability | ClinVar | | multiple myeloma | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Multiple myeloma | ClinVar | | uveal coloboma-cleft lip and palate-intellectual disability | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Uveal coloboma-cleft lip and palate-intellectual disability | ClinVar | PMID:24462371 and PMID:4997531 | uveal coloboma-cleft lip and palate-intellectual disability | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar Annotator: match by term: Uveal coloboma-cleft lip and palate-intellectual disability | ClinVar | PMID:25741868 | uveal coloboma-cleft lip and palate-intellectual disability | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar Annotator: match by term: YAP1-related condition | ClinVar | PMID:25741868 and PMID:28492532 | uveal coloboma-cleft lip and palate-intellectual disability | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Uveal coloboma-cleft lip and palate-intellectual disability | ClinVar | | |