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Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | focal epilepsy | | IAGP | RGD:21405148 | 8554872 | ClinVar Annotator: match by term: Focal-onset seizure | ClinVar | PMID:32581362 | genetic disease | | IAGP | RGD:151742014 | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:28492532 | genetic disease | | IAGP | RGD:155918301 | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | genetic disease | | IAGP | RGD:156104769 | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:28492532 | genetic disease | | IAGP | RGD:151836127 | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:28492532 | genetic disease | | IAGP | RGD:155979430 | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | immunodeficiency with hyper IgM type 3 | | IAGP | RGD:12835480 | 8554872 | ClinVar Annotator: match by term: Immunodeficiency with hyper IgM type 3 | ClinVar | PMID:28492532 | immunodeficiency with hyper IgM type 3 | | IAGP | RGD:14393517 | 8554872 | ClinVar Annotator: match by term: Hyper-IgM Immunodeficiency Syndrome, Type 3 | ClinVar | PMID:28492532 | immunodeficiency with hyper IgM type 3 | | IAGP | RGD:11618419 | 8554872 | ClinVar Annotator: match by term: Hyper-IgM Immunodeficiency Syndrome, Type 3 | ClinVar | PMID:28492532 | immunodeficiency with hyper IgM type 3 | | IAGP | RGD:156448772 | 8554872 | ClinVar Annotator: match by term: Hyper-IgM Immunodeficiency Syndrome, Type 3 | ClinVar | | immunodeficiency with hyper IgM type 3 | | IAGP | RGD:11618682 | 8554872 | ClinVar Annotator: match by term: Hyper-IgM Immunodeficiency Syndrome, Type 3 | ClinVar | PMID:25741868 | immunodeficiency with hyper IgM type 3 | | IAGP | RGD:11630397 | 8554872 | ClinVar Annotator: match by term: Immunodeficiency with hyper IgM type 3 | ClinVar | PMID:12593727 more ... | immunodeficiency with hyper IgM type 3 | | IAGP | RGD:13435983 | 8554872 | ClinVar Annotator: match by term: Hyper-IgM Immunodeficiency Syndrome, Type 3 | ClinVar | PMID:25741868 | immunodeficiency with hyper IgM type 3 | | IAGP | RGD:41404946 | 8554872 | ClinVar Annotator: match by term: Hyper-IgM Immunodeficiency Syndrome, Type 3 | ClinVar | | immunodeficiency with hyper IgM type 3 | | IAGP | RGD:28889281 | 8554872 | ClinVar Annotator: match by term: Hyper-IgM Immunodeficiency Syndrome, Type 3 | ClinVar | PMID:28492532 | immunodeficiency with hyper IgM type 3 | | IAGP | RGD:13521708 | 8554872 | ClinVar Annotator: match by term: Immunodeficiency with hyper IgM type 3 | ClinVar | PMID:25741868, PMID:28492532 | immunodeficiency with hyper IgM type 3 | | IAGP | RGD:11659999 | 8554872 | ClinVar Annotator: match by term: Hyper-IgM Immunodeficiency Syndrome, Type 3 | ClinVar | PMID:28492532 | immunodeficiency with hyper IgM type 3 | | IAGP | RGD:11655289 | 8554872 | ClinVar Annotator: match by term: Hyper-IgM Immunodeficiency Syndrome, Type 3 | ClinVar | | immunodeficiency with hyper IgM type 3 | | IAGP | RGD:15169245 | 8554872 | ClinVar Annotator: match by term: Hyper-IgM Immunodeficiency Syndrome, Type 3 | ClinVar | PMID:28492532 | immunodeficiency with hyper IgM type 3 | | IAGP | RGD:15187205 | 8554872 | ClinVar Annotator: match by term: Hyper-IgM Immunodeficiency Syndrome, Type 3 | ClinVar | PMID:28492532 | immunodeficiency with hyper IgM type 3 | | IAGP | RGD:11629749 | 8554872 | ClinVar Annotator: match by term: Hyper-IgM Immunodeficiency Syndrome, Type 3 | ClinVar | | immunodeficiency with hyper IgM type 3 | | IAGP | RGD:11628205 | 8554872 | ClinVar Annotator: match by term: Hyper-IgM Immunodeficiency Syndrome, Type 3 | ClinVar | | immunodeficiency with hyper IgM type 3 | | IAGP | RGD:11620532 | 8554872 | ClinVar Annotator: match by term: Hyper-IgM Immunodeficiency Syndrome, Type 3 | ClinVar | | immunodeficiency with hyper IgM type 3 | | IAGP | RGD:11618288 | 8554872 | ClinVar Annotator: match by term: Hyper-IgM Immunodeficiency Syndrome, Type 3 | ClinVar | | immunodeficiency with hyper IgM type 3 | | IAGP | RGD:28896413 | 8554872 | ClinVar Annotator: match by term: Hyper-IgM Immunodeficiency Syndrome, Type 3 | ClinVar | | immunodeficiency with hyper IgM type 3 | | IAGP | RGD:28896416 | 8554872 | ClinVar Annotator: match by term: Hyper-IgM Immunodeficiency Syndrome, Type 3 | ClinVar | | immunodeficiency with hyper IgM type 3 | | IAGP | RGD:11632067 | 8554872 | ClinVar Annotator: match by term: Hyper-IgM Immunodeficiency Syndrome, Type 3 | ClinVar | | immunodeficiency with hyper IgM type 3 | | IAGP | RGD:11630528 | 8554872 | ClinVar Annotator: match by term: Hyper-IgM Immunodeficiency Syndrome, Type 3 | ClinVar | | immunodeficiency with hyper IgM type 3 | | IAGP | RGD:11626317 | 8554872 | ClinVar Annotator: match by term: Hyper-IgM Immunodeficiency Syndrome, Type 3 | ClinVar | | immunodeficiency with hyper IgM type 3 | | IAGP | RGD:11648395 | 8554872 | ClinVar Annotator: match by term: Hyper-IgM Immunodeficiency Syndrome, Type 3 | ClinVar | | immunodeficiency with hyper IgM type 3 | | IAGP | RGD:28896419 | 8554872 | ClinVar Annotator: match by term: Hyper-IgM Immunodeficiency Syndrome, Type 3 | ClinVar | | immunodeficiency with hyper IgM type 3 | | IAGP | RGD:28887918 | 8554872 | ClinVar Annotator: match by term: Hyper-IgM Immunodeficiency Syndrome, Type 3 | ClinVar | | immunodeficiency with hyper IgM type 3 | | IAGP | RGD:28888256 | 8554872 | ClinVar Annotator: match by term: Hyper-IgM Immunodeficiency Syndrome, Type 3 | ClinVar | | immunodeficiency with hyper IgM type 3 | | IAGP | RGD:14688141 | 8554872 | ClinVar Annotator: match by term: Immunodeficiency with hyper IgM type 3 | ClinVar | | immunodeficiency with hyper IgM type 3 | | IAGP | RGD:28888249 | 8554872 | ClinVar Annotator: match by term: Hyper-IgM Immunodeficiency Syndrome, Type 3 | ClinVar | | immunodeficiency with hyper IgM type 3 | | IAGP | RGD:28888252 | 8554872 | ClinVar Annotator: match by term: Hyper-IgM Immunodeficiency Syndrome, Type 3 | ClinVar | | immunodeficiency with hyper IgM type 3 | | IAGP | RGD:8566385 | 8554872 | ClinVar Annotator: match by term: Immunodeficiency with hyper IgM type 3 | ClinVar | PMID:11675497 | immunodeficiency with hyper IgM type 3 | | IAGP | RGD:11626977 | 8554872 | ClinVar Annotator: match by term: Immunodeficiency with hyper IgM type 3 | ClinVar | PMID:28492532 | immunodeficiency with hyper IgM type 3 | | IAGP | RGD:11617985 | 8554872 | ClinVar Annotator: match by term: Immunodeficiency with hyper IgM type 3 | ClinVar | PMID:28492532 | immunodeficiency with hyper IgM type 3 | | IAGP | RGD:40889498 | 8554872 | ClinVar Annotator: match by term: Hyper-IgM Immunodeficiency Syndrome, Type 3 | ClinVar | PMID:25741868 | immunodeficiency with hyper IgM type 3 | | IAGP | RGD:11632092 | 8554872 | ClinVar Annotator: match by term: Hyper-IgM Immunodeficiency Syndrome, Type 3 | ClinVar | PMID:28492532 | immunodeficiency with hyper IgM type 3 | | IAGP | RGD:8600706 | 8554872 | ClinVar Annotator: match by term: Immunodeficiency with hyper IgM type 3 | ClinVar | PMID:11675497, PMID:20702779 | immunodeficiency with hyper IgM type 3 | | IAGP | RGD:11612998 | 8554872 | ClinVar Annotator: match by term: Immunodeficiency with hyper IgM type 3 | ClinVar | PMID:28492532 | immunodeficiency with hyper IgM type 3 | | IAGP | RGD:8566386 | 8554872 | ClinVar Annotator: match by term: Immunodeficiency with hyper IgM type 3 | ClinVar | PMID:12584544 | immunodeficiency with hyper IgM type 3 | | IAGP | RGD:28896421 | 8554872 | ClinVar Annotator: match by term: Hyper-IgM Immunodeficiency Syndrome, Type 3 | ClinVar | PMID:28492532 | immunodeficiency with hyper IgM type 3 | | IAGP | RGD:28901189 | 8554872 | ClinVar Annotator: match by term: Hyper-IgM Immunodeficiency Syndrome, Type 3 | ClinVar | PMID:28492532 | X-linked hyper IgM syndrome | | IAGP | RGD:11635540 | 8554872 | ClinVar Annotator: match by term: Hyperimmunoglobulin M syndrome | ClinVar | | X-linked hyper IgM syndrome | | IAGP | RGD:11627237 | 8554872 | ClinVar Annotator: match by term: Hyperimmunoglobulin M syndrome | ClinVar | | X-linked hyper IgM syndrome | | IAGP | RGD:11662455 | 8554872 | ClinVar Annotator: match by term: Hyperimmunoglobulin M syndrome | ClinVar | | X-linked hyper IgM syndrome | | IAGP | RGD:11630818 | 8554872 | ClinVar Annotator: match by term: Hyperimmunoglobulin M syndrome | ClinVar | | X-linked hyper IgM syndrome | | IAGP | RGD:11661368 | 8554872 | ClinVar Annotator: match by term: Hyperimmunoglobulin M syndrome | ClinVar | | |