Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | Charcot-Marie-Tooth disease type 2 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 | ClinVar | PMID:28492532 and PMID:29845577 | gastrointestinal stromal tumor | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Gastrointestinal stromal tumor | ClinVar | PMID:28492532 | genetic disease | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | immunodeficiency 42 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency | ClinVar | PMID:28492532 | MHC class II deficiency | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: MHC class II deficiency | ClinVar | PMID:28492532 | parathyroid carcinoma | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Parathyroid carcinoma | ClinVar | PMID:28492532 | prostate cancer | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Malignant tumor of prostate | ClinVar | PMID:23265383 | severe congenital neutropenia 3 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Kostmann syndrome | ClinVar | PMID:28492532 | severe congenital neutropenia 5 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome | ClinVar | PMID:28492532 | Zimmermann-Laband Syndrome 3 | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar Annotator: match by term: Zimmermann-laband syndrome 3 | ClinVar | | Zimmermann-Laband Syndrome 3 | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar Annotator: match by term: Zimmermann-laband syndrome 3 | ClinVar | PMID:31155282 | Zimmermann-Laband Syndrome 3 | | IAGP | (Homo sapiens) and (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Zimmermann-laband syndrome 3 | ClinVar | PMID:24033266 and PMID:25741868 | Zimmermann-Laband Syndrome 3 | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar Annotator: match by term: Zimmermann-laband syndrome 3 | ClinVar | PMID:25741868 | |