Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | autosomal dominant intellectual developmental disorder 48 | | ISO | RAC1 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:25741868 more ... | Developmental Disabilities | | ISO | RAC1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Global developmental delay | ClinVar | PMID:25741868 more ... | Developmental Disease | | ISO | RAC1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Developmental disorder | ClinVar | PMID:25741868 | genetic disease | | ISO | RAC1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | head and neck squamous cell carcinoma | | ISO | RAC1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Head and neck squamous cell carcinoma | ClinVar | PMID:25056119 and PMID:26619011 | melanoma | | ISO | RAC1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Malignant melanoma and somatic | ClinVar | PMID:25056119 and PMID:26619011 | neurodevelopmental disorder with dysmorphic facies and distal limb anomalies | | ISO | RAC1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies | ClinVar | PMID:25741868 and PMID:28886345 | skin melanoma | | ISO | RAC1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Cutaneous melanoma | ClinVar | PMID:25056119 and PMID:26619011 | uterine cancer | | ISO | RAC1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Malignant neoplasm of body of uterus | ClinVar | PMID:25056119 and PMID:26619011 | |