Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | alpha-mannosidosis | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Deficiency of alpha-mannosidase | ClinVar | PMID:28492532 | Charcot-Marie-Tooth disease dominant intermediate B | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B | ClinVar | PMID:28492532 | Combined Immunodeficiency with Autoimmunity and Spondylometaphyseal Dysplasia | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Spondyloenchondrodysplasia with immune dysregulation | ClinVar | PMID:13524805 more ... | Combined Immunodeficiency with Autoimmunity and Spondylometaphyseal Dysplasia | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar Annotator: match by term: Spondyloenchondrodysplasia with immune dysregulation | ClinVar | PMID:21217752 and PMID:28492532 | Combined Immunodeficiency with Autoimmunity and Spondylometaphyseal Dysplasia | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar Annotator: match by term: Spondyloenchondrodysplasia with immune dysregulation | ClinVar | PMID:24033266 more ... | Combined Immunodeficiency with Autoimmunity and Spondylometaphyseal Dysplasia | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Spondyloenchondrodysplasia with immune dysregulation | ClinVar | PMID:21217752 more ... | Combined Immunodeficiency with Autoimmunity and Spondylometaphyseal Dysplasia | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar Annotator: match by term: Spondyloenchondrodysplasia with immune dysregulation | ClinVar | PMID:25741868 | Combined Immunodeficiency with Autoimmunity and Spondylometaphyseal Dysplasia | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar Annotator: match by term: Spondyloenchondrodysplasia with immune dysregulation | ClinVar | PMID:27390188 and PMID:28492532 | Combined Immunodeficiency with Autoimmunity and Spondylometaphyseal Dysplasia | | IAGP | (Homo sapiens) and (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Spondyloenchondrodysplasia with immune dysregulation | ClinVar | PMID:17576681 more ... | Combined Immunodeficiency with Autoimmunity and Spondylometaphyseal Dysplasia | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar Annotator: match by term: Spondyloenchondrodysplasia with immune dysregulation | ClinVar | PMID:21217752 more ... | Combined Immunodeficiency with Autoimmunity and Spondylometaphyseal Dysplasia | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar Annotator: match by term: Spondyloenchondrodysplasia with immune dysregulation | ClinVar | PMID:26951490 and PMID:28492532 | Combined Immunodeficiency with Autoimmunity and Spondylometaphyseal Dysplasia | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Spondyloenchondrodysplasia with immune dysregulation | ClinVar | PMID:28492532 and PMID:31286717 | Combined Immunodeficiency with Autoimmunity and Spondylometaphyseal Dysplasia | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Spondyloenchondrodysplasia with immune dysregulation | ClinVar | PMID:21217752 more ... | Combined Immunodeficiency with Autoimmunity and Spondylometaphyseal Dysplasia | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar Annotator: match by term: Spondyloenchondrodysplasia with immune dysregulation | ClinVar | PMID:28492532 | Combined Immunodeficiency with Autoimmunity and Spondylometaphyseal Dysplasia | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar Annotator: match by term: Spondyloenchondrodysplasia with immune dysregulation | ClinVar | PMID:28492532 | Combined Immunodeficiency with Autoimmunity and Spondylometaphyseal Dysplasia | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar Annotator: match by term: Spondyloenchondrodysplasia with immune dysregulation | ClinVar | PMID:25741868 and PMID:28492532 | Combined Immunodeficiency with Autoimmunity and Spondylometaphyseal Dysplasia | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Spondyloenchondrodysplasia with immune dysregulation | ClinVar | PMID:21217752 more ... | Combined Immunodeficiency with Autoimmunity and Spondylometaphyseal Dysplasia | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Spondyloenchondrodysplasia with immune dysregulation | ClinVar | PMID:12786759 more ... | Combined Immunodeficiency with Autoimmunity and Spondylometaphyseal Dysplasia | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Spondyloenchondrodysplasia with immune dysregulation | ClinVar | PMID:21217755 more ... | Combined Immunodeficiency with Autoimmunity and Spondylometaphyseal Dysplasia | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Spondyloenchondrodysplasia with immune dysregulation | ClinVar | PMID:26346816 more ... | Combined Immunodeficiency with Autoimmunity and Spondylometaphyseal Dysplasia | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Spondyloenchondrodysplasia with immune dysregulation | ClinVar | PMID:21217752 more ... | Combined Immunodeficiency with Autoimmunity and Spondylometaphyseal Dysplasia | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Spondyloenchondrodysplasia with immune dysregulation | ClinVar | PMID:13524805 more ... | Combined Immunodeficiency with Autoimmunity and Spondylometaphyseal Dysplasia | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Spondyloenchondrodysplasia with immune dysregulation | ClinVar | PMID:21217752 and PMID:25741868 | Combined Immunodeficiency with Autoimmunity and Spondylometaphyseal Dysplasia | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Spondyloenchondrodysplasia with immune dysregulation | ClinVar | PMID:25741868 more ... | Combined Immunodeficiency with Autoimmunity and Spondylometaphyseal Dysplasia | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Spondyloenchondrodysplasia with immune dysregulation | ClinVar | PMID:21217752 more ... | Combined Immunodeficiency with Autoimmunity and Spondylometaphyseal Dysplasia | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Spondyloenchondrodysplasia with immune dysregulation | ClinVar | PMID:16470600 and PMID:21217755 | Combined Immunodeficiency with Autoimmunity and Spondylometaphyseal Dysplasia | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Spondyloenchondrodysplasia with immune dysregulation | ClinVar | PMID:18924170 and PMID:21217755 | Combined Immunodeficiency with Autoimmunity and Spondylometaphyseal Dysplasia | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Spondyloenchondrodysplasia with immune dysregulation | ClinVar | PMID:26346816 | episodic ataxia type 2 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Episodic ataxia type 2 | ClinVar | PMID:28492532 | genetic disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:27390188 and PMID:28492532 | genetic disease | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | genetic disease | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:28492532 | genetic disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:21217752 more ... | genetic disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:13524805 more ... | glutaric acidemia I | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Glutaric aciduria and type 1 | ClinVar | PMID:28492532 | |