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Imported Disease Annotations - ClinVarObject Symbol | Species | Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | SHMT1 | Human | autistic disorder | | IAGP | (Homo sapiens) and (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Autism | ClinVar | PMID:21681106 and PMID:30208311 | SHMT1 | Human | common variable immunodeficiency 2 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Immunodeficiency more ... | ClinVar | PMID:28492532 | SHMT1 | Human | gastrointestinal stromal tumor | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Gastrointestinal stromal tumor | ClinVar | PMID:25227144 | SHMT1 | Human | Joubert syndrome 1 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar | PMID:28492532 | SHMT1 | Human | Potocki-Lupski syndrome | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Potocki-Lupski syndrome | ClinVar | PMID:28837307 | |