Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | Charcot-Marie-Tooth disease type 2 | | ISO | HCN3 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 | ClinVar | PMID:28492532 and PMID:29845577 | gastrointestinal stromal tumor | | ISO | HCN3 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Gastrointestinal stromal tumor | ClinVar | PMID:28492532 | genetic disease | | ISO | HCN3 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | immunodeficiency 42 | | ISO | HCN3 (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 | | ISO | HCN3 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: MHC class II deficiency | ClinVar | PMID:28492532 | parathyroid carcinoma | | ISO | HCN3 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Parathyroid carcinoma | ClinVar | PMID:28492532 | pyruvate kinase deficiency of red cells | | ISO | HCN3 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Pyruvate kinase deficiency of red cells | ClinVar | | severe congenital neutropenia 3 | | ISO | HCN3 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Kostmann syndrome | ClinVar | PMID:28492532 | severe congenital neutropenia 5 | | ISO | HCN3 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome | ClinVar | PMID:28492532 | | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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