Imported Disease Annotations - ClinVarObject Symbol | Species | Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | TSPOAP1 | Human | Bardet-Biedl syndrome | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Bardet-Biedl syndrome | ClinVar | | TSPOAP1 | Human | Bardet-Biedl syndrome | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Bardet-Biedl syndrome | ClinVar | PMID:25741868 | TSPOAP1 | Human | dystonia | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: TSPOAP1-related Dystonia | ClinVar | | TSPOAP1 | Human | dystonia 22, adult-onset | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Dystonia 22 and adult-onset | ClinVar | PMID:33539324 | TSPOAP1 | Human | dystonia 22, juvenile-onset | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Dystonia 22 and juvenile-onset | ClinVar | PMID:33539324 | TSPOAP1 | Human | hereditary breast ovarian cancer syndrome | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Breast-ovarian cancer more ... | ClinVar | PMID:38922859 | TSPOAP1 | Human | intellectual disability | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Intellectual disability | ClinVar | PMID:25741868 and PMID:33539324 | TSPOAP1 | Human | intellectual disability | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Intellectual disability | ClinVar | PMID:25741868 and PMID:37071997 | TSPOAP1 | Human | Joubert syndrome 1 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar | PMID:28492532 | TSPOAP1 | Human | Neurodevelopmental Disorders | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Neurodevelopmental disorder | ClinVar | PMID:25741868 and PMID:33539324 | |