Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | genetic disease | | ISO | NSD3 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | hereditary spastic paraplegia 54 | | ISO | NSD3 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hereditary spastic paraplegia 54 | ClinVar | PMID:28492532 | hypogonadotropic hypogonadism 2 with or without anosmia | | ISO | NSD3 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 2 with or without anosmia | ClinVar | PMID:12627230 more ... | paraplegia | | ISO | NSD3 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Spastic paraplegia | ClinVar | PMID:28492532 | | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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