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Imported Disease Annotations - ClinVarObject Symbol | Species | Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | SFTPD | Human | hypermethioninemia | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hepatic methionine adenosyltransferase deficiency | ClinVar | PMID:28492532 | SFTPD | Human | hypermethioninemia | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hepatic methionine adenosyltransferase deficiency | ClinVar | PMID:20675163 more ... | SFTPD | Human | Neurodevelopmental Disorders | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Neurodevelopmental disorder | ClinVar | PMID:25741868 | |