Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | autistic disorder | | ISO | NYX (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Autism | ClinVar | PMID:21681106 and PMID:30208311 | congenital stationary night blindness | | ISO | NYX (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:25307992 more ... | congenital stationary night blindness 1A | | ISO | NYX (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:11062471 more ... | Eye Abnormalities | | ISO | NYX (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Abnormality of the eye | ClinVar | PMID:28041643 | fundus dystrophy | | ISO | NYX (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Retinal dystrophy | ClinVar | PMID:11062471 more ... | genetic disease | | ISO | NYX (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:28492532 | Neurodevelopmental Disorders | | ISO | NYX (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Neurodevelopmental disorder | ClinVar | PMID:25741868 | retinitis pigmentosa | | ISO | NYX (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar | PMID:25741868 | syndromic X-linked intellectual disability Hedera type | | ISO | NYX (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Hedera type | ClinVar | PMID:23901204 more ... | syndromic X-linked intellectual disability Lubs type | | ISO | NYX (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type | ClinVar | PMID:25741868 | syndromic X-linked intellectual disability Najm type | | ISO | NYX (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Intellectual disability more ... | ClinVar | PMID:23901204 and PMID:28492532 | | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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Imported Disease Annotations - OMIM
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