Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | autistic disorder | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Autism | ClinVar | PMID:21681106 and PMID:30208311 | congenital heart disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Heart and malformation of | ClinVar | PMID:25741868 more ... | FG Syndrome 1 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: FG syndrome 1 | ClinVar | PMID:28492532 | genetic disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:22416126 | genetic disease | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | genetic disease | | IAGP | (Homo sapiens) | 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:25741868 and PMID:26571461 | medulloblastoma | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Medulloblastoma | ClinVar | PMID:25741868 and PMID:26822237 | syndromic X-linked intellectual disability 34 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Syndromic X-linked intellectual disability 34 | ClinVar | PMID:31883306 | syndromic X-linked intellectual disability 34 | | IAGP | (Homo sapiens) and (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Syndromic X-linked intellectual disability 34 | ClinVar | PMID:26571461 and PMID:27550220 | syndromic X-linked intellectual disability 34 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Syndromic X-linked intellectual disability 34 | ClinVar | PMID:25741868 and PMID:26822237 | syndromic X-linked intellectual disability 34 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Syndromic X-linked intellectual disability 34 | ClinVar | PMID:25741868 and PMID:28492532 | syndromic X-linked intellectual disability 34 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Syndromic X-linked intellectual disability 34 | ClinVar | PMID:25741868 and PMID:26571461 | syndromic X-linked intellectual disability 34 | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar Annotator: match by term: Syndromic X-linked intellectual disability 34 | ClinVar | | syndromic X-linked intellectual disability 34 | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar Annotator: match by term: Syndromic X-linked intellectual disability 34 | ClinVar | PMID:25741868 | syndromic X-linked intellectual disability 34 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Syndromic X-linked intellectual disability 34 | ClinVar | PMID:27329731 | syndromic X-linked intellectual disability 34 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Syndromic X-linked intellectual disability 34 | ClinVar | PMID:25741868 and PMID:32238909 | syndromic X-linked intellectual disability Lubs type | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type | ClinVar | PMID:25741868 | X-linked severe combined immunodeficiency | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: X-linked severe combined immunodeficiency | ClinVar | PMID:28492532 | |