Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | arrhythmogenic right ventricular cardiomyopathy | | ISO | SOS1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia | ClinVar | PMID:17143282 more ... | Brugada syndrome | | ISO | SOS1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Sudden Unexplained Nocturnal Death Syndrome (SUNDS) | ClinVar | PMID:24033266 more ... | Cafe au lait Spots, Multiple | | ISO | SOS1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Cafe au lait spots and multiple | ClinVar | | cardiomyopathy | | ISO | SOS1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar | PMID:21340158 more ... | congenital heart disease | | ISO | SOS1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Heart and malformation of | ClinVar | | dilated cardiomyopathy | | ISO | SOS1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Primary dilated cardiomyopathy | ClinVar | PMID:21340158 more ... | Dwarfism | | ISO | SOS1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Short stature | ClinVar | PMID:17143285 more ... | familial hypertrophic cardiomyopathy | | ISO | SOS1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy | ClinVar | PMID:24033266 more ... | genetic disease | | ISO | SOS1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:17143282 more ... | gingival fibromatosis | | ISO | SOS1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Gingival fibromatosis | ClinVar | PMID:25741868 and PMID:28492532 | Gingival Fibromatosis 1 | | ISO | SOS1 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:10675333 more ... | hypertrophic cardiomyopathy | | ISO | SOS1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy | ClinVar | PMID:21340158 more ... | hypertrophic cardiomyopathy 1 | | ISO | SOS1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis | ClinVar | PMID:24033266 more ... | intellectual disability | | ISO | SOS1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Intellectual disability | ClinVar | PMID:17586837 more ... | Joubert syndrome 3 | | ISO | SOS1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Joubert syndrome 3 | ClinVar | PMID:21340158 more ... | lung adenocarcinoma | | ISO | SOS1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Lung adenocarcinoma | ClinVar | PMID:25741868 and PMID:26619011 | Lynch syndrome | | ISO | SOS1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar | PMID:28492532 | Muscle Hypotonia | | ISO | SOS1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Neonatal hypotonia | ClinVar | PMID:19020799 more ... | Neurodevelopmental Disorders | | ISO | SOS1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Neurodevelopmental disorder | ClinVar | PMID:25741868 | Noonan Like Syndrome | | ISO | SOS1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: NOONAN SYNDROME WITH PIGMENTED VILLONODULAR SYNOVITIS | ClinVar | PMID:10675333 more ... | Noonan syndrome | | ISO | SOS1 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:11333268 more ... | Noonan syndrome 1 | | ISO | SOS1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Noonan syndrome 1 | ClinVar | PMID:17143282 more ... | Noonan syndrome 3 | | ISO | SOS1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Noonan syndrome 3 | ClinVar | PMID:17143282 more ... | Noonan syndrome 4 | | ISO | SOS1 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:10675333 more ... | Nuchal Bleb, Familial | | ISO | SOS1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Nuchal bleb and familial | ClinVar | PMID:17143285 more ... | ptosis | | ISO | SOS1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Ptosis | ClinVar | PMID:17143285 more ... | pulmonary valve stenosis | | ISO | SOS1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Pulmonic stenosis | ClinVar | PMID:17143285 more ... | RASopathy | | ISO | SOS1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: RASopathy | ClinVar | PMID:10675333 more ... | RASopathy | | ISO | SOS1 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:10675333 more ... | RASopathy | | ISO | SOS1 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:10675333 more ... | RASopathy | | ISO | SOS1 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:10675333 more ... | RASopathy | | ISO | SOS1 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:10675333 more ... | RASopathy | | ISO | SOS1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: RASopathy | ClinVar | PMID:10675333 more ... | RASopathy | | ISO | SOS1 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:10675333 more ... | RASopathy | | ISO | SOS1 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:10675333 more ... | RASopathy | | ISO | SOS1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: RASopathy | ClinVar | PMID:11333268 more ... | RASopathy | | ISO | SOS1 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:11333268 more ... | Stroke | | ISO | SOS1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Stroke | ClinVar | PMID:24033266 more ... | Sudden Unexpected Nocturnal Death Syndrome | | ISO | SOS1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Sudden unexpected nocturnal death syndrome | ClinVar | PMID:24033266 more ... | uterine cancer | | ISO | SOS1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Malignant neoplasm of body of uterus | ClinVar | PMID:25741868 and PMID:26619011 | Ventricular Tachycardia | | ISO | SOS1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Ventricular tachycardia | ClinVar | PMID:17586837 more ... | | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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Imported Disease Annotations - OMIM
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