Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | autism spectrum disorder | | ISO | TBX1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Autism spectrum disorder | ClinVar | PMID:25741868 and PMID:27569545 | autistic disorder | | ISO | TBX1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Autism | ClinVar | PMID:21681106 and PMID:30208311 | chromosome 22q11.2 deletion syndrome, distal | | ISO | TBX1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome and distal | ClinVar | PMID:31690835 | chromosome 22q11.2 microduplication syndrome | | ISO | TBX1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome | ClinVar | PMID:25741868 and PMID:31690835 | Conotruncal Cardiac Defects | | ISO | TBX1 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:11748311 more ... | DiGeorge syndrome | | ISO | TBX1 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:11239417 more ... | dilated cardiomyopathy | | ISO | TBX1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Primary dilated cardiomyopathy | ClinVar | PMID:28492532 | epilepsy | | ISO | TBX1 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:26467025 more ... | genetic disease | | ISO | TBX1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:25741868 and PMID:28492532 | hemorrhagic disease | | ISO | TBX1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Abnormal bleeding | ClinVar | PMID:25741868 and PMID:31064749 | hypoplastic left heart syndrome | | ISO | TBX1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hypoplastic left heart syndrome | ClinVar | PMID:28492532 | immunodeficiency 51 | | ISO | TBX1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: CANDIDIASIS more ... | ClinVar | PMID:24552284 more ... | intellectual disability | | ISO | TBX1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Intellectual disability | ClinVar | | KBG syndrome | | ISO | TBX1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: KBG syndrome | ClinVar | | megacolon | | ISO | TBX1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Megacolon | ClinVar | PMID:21681106 | Neurodevelopmental Disorders | | ISO | TBX1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Neurodevelopmental disorder | ClinVar | PMID:25741868 | Polyarteritis Nodosa, Childhood-Onset | | ISO | TBX1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: VASCULITIS more ... | ClinVar | PMID:24552284 more ... | primary immunodeficiency disease | | ISO | TBX1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inherited Immunodeficiency Diseases | ClinVar | PMID:25741868 | schizophrenia | | ISO | TBX1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Schizophrenia | ClinVar | PMID:21681106 and PMID:30208311 | Takao VCF Syndrome | | ISO | TBX1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Conotruncal anomaly face syndrome | ClinVar | PMID:14585638 more ... | tetralogy of Fallot | | ISO | TBX1 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:11748311 more ... | velocardiofacial syndrome | | ISO | TBX1 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:11748311 more ... | Venous Thrombosis | | ISO | TBX1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Deep venous thrombosis | ClinVar | PMID:25741868 and PMID:31064749 | |