Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | adenosine deaminase deficiency | | ISO | RAG1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Bubble boy disease | ClinVar | PMID:10891452 more ... | adenosine deaminase deficiency | | ISO | RAG1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Bubble boy disease | ClinVar | PMID:10635319 more ... | adenosine deaminase deficiency | | ISO | RAG1 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:10891452 more ... | Alpha/Beta T-Cell Lymphopenia with Gamma/Delta T-Cell Expansion, Severe Cytomegalovirus Infection, and Autoimmunity | | ISO | RAG1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Alpha/beta T-cell lymphopenia with gamma/delta T-cell expansion more ... | ClinVar | PMID:10606976 more ... | cataract 3 multiple types | | ISO | RAG1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Cataract 3 multiple types | ClinVar | PMID:25741868 | combined cellular and humoral immune defects with granulomas | | ISO | RAG1 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:10606976 more ... | genetic disease | | ISO | RAG1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:28492532 | histiocytic sarcoma | | ISO | RAG1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Histiocytic medullary reticulosis | ClinVar | PMID:10606976 more ... | Immunodeficiency 104 | | ISO | RAG1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Immunodeficiency 104 | ClinVar | PMID:24033266 more ... | intellectual disability | | ISO | RAG1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Intellectual disability | ClinVar | | microcephaly | | ISO | RAG1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Microcephaly | ClinVar | PMID:25741868 | Omenn syndrome | | ISO | RAG1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Severe combined immunodeficiency with hypereosinophilia | ClinVar | PMID:10606976 more ... | primary ciliary dyskinesia | | ISO | RAG1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Primary ciliary dyskinesia | ClinVar | PMID:25741868 and PMID:28492532 | primary immunodeficiency disease | | ISO | RAG1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inherited Immunodeficiency Diseases | ClinVar | PMID:17572155 more ... | recombinase activating gene 1 deficiency | | ISO | RAG1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Recombinase activating gene 1 deficiency | ClinVar | PMID:10891452 more ... | severe combined immunodeficiency | | ISO | RAG1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Severe combined immunodeficiency disease | ClinVar | PMID:10635319 more ... | severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive | | ISO | RAG1 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:10606976 more ... | severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive | | ISO | RAG1 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:10606976 more ... | severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive | | ISO | RAG1 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:10891452 more ... | severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive | | ISO | RAG1 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:10891452 more ... | severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive | | ISO | RAG1 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:10891452 more ... | | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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Imported Disease Annotations - CTD
Imported Disease Annotations - OMIM
Gene Ontology Annotations Click to see Annotation Detail View
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