Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | autism spectrum disorder | | ISO | NLGN3 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Autism spectrum disorder | ClinVar | PMID:25741868 | autistic disorder | | ISO | NLGN3 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:12669065 more ... | Episodic Ataxia Type 9 | | ISO | NLGN3 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Complex neurodevelopmental disorder | ClinVar | | FG Syndrome 1 | | ISO | NLGN3 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: FG syndrome 1 | ClinVar | PMID:28492532 | genetic disease | | ISO | NLGN3 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:16508939 more ... | hypogonadotropic hypogonadism | | ISO | NLGN3 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hypogonadotropic hypogonadism | ClinVar | | intellectual disability | | ISO | NLGN3 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Intellectual disability | ClinVar | PMID:25167861 and PMID:25741868 | Klinefelter syndrome | | ISO | NLGN3 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hypogonadotropic hypogonadism | ClinVar | | syndromic X-linked intellectual disability Lubs type | | ISO | NLGN3 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type | ClinVar | PMID:25741868 | X-linked severe combined immunodeficiency | | ISO | NLGN3 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: X-linked severe combined immunodeficiency | ClinVar | PMID:28492532 | | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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Imported Disease Annotations - OMIM
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