Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | Aicardi-Goutieres syndrome | | ISO | ADAR (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Aicardi Goutieres syndrome | ClinVar | PMID:19060901 more ... | Aicardi-Goutieres Syndrome 6 | | ISO | ADAR (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 6 | ClinVar | PMID:15146470 more ... | anxiety disorder | | ISO | ADAR (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Anxiety | ClinVar | PMID:25741868 | Charcot-Marie-Tooth disease type 2 | | ISO | ADAR (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 | ClinVar | PMID:28492532 and PMID:29845577 | colorectal cancer | | ISO | ADAR (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Colorectal cancer | ClinVar | | combined immunodeficiency | | ISO | ADAR (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Combined immunodeficiency | ClinVar | PMID:25741868 | combined T cell and B cell immunodeficiency | | ISO | ADAR (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Congenital combined immunodeficiency | ClinVar | PMID:25741868 | dyschromatosis symmetrica hereditaria | | ISO | ADAR (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Symmetrical dyschromatosis of extremities | ClinVar | PMID:12916015 more ... | ectodermal dysplasia | | ISO | ADAR (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Aplasia cutis congenita | ClinVar | PMID:25741868 more ... | gastrointestinal stromal tumor | | ISO | ADAR (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Gastrointestinal stromal tumor | ClinVar | PMID:28492532 | genetic disease | | ISO | ADAR (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:15146470 more ... | immunodeficiency 42 | | ISO | ADAR (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency | ClinVar | PMID:28492532 | learning disability | | ISO | ADAR (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Specific learning disability | ClinVar | PMID:25741868 | MHC class II deficiency | | ISO | ADAR (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: MHC class II deficiency | ClinVar | PMID:28492532 | microcephaly | | ISO | ADAR (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Microcephaly | ClinVar | PMID:25741868 | parathyroid carcinoma | | ISO | ADAR (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Parathyroid carcinoma | ClinVar | PMID:28492532 | severe congenital neutropenia 3 | | ISO | ADAR (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Kostmann syndrome | ClinVar | PMID:17187068 and PMID:28492532 | severe congenital neutropenia 5 | | ISO | ADAR (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome | ClinVar | PMID:28492532 | | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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Imported Disease Annotations - CTD
Imported Disease Annotations - OMIM
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