Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | autistic disorder | | ISO | CYBB (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Autism | ClinVar | PMID:21681106 and PMID:30208311 | chronic granulomatous disease | | ISO | CYBB (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Chronic granulomatous disease | ClinVar | PMID:1347621 more ... | genetic disease | | ISO | CYBB (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:1320378 more ... | immunodeficiency 34 | | ISO | CYBB (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: X-linked Mendelian susceptibility to mycobacterial diseases due to CYBB deficiency | ClinVar | PMID:10089913 more ... | Neurodevelopmental Disorders | | ISO | CYBB (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Neurodevelopmental disorder | ClinVar | PMID:25741868 | ornithine carbamoyltransferase deficiency | | ISO | CYBB (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency | ClinVar | PMID:10946359 more ... | primary ciliary dyskinesia | | ISO | CYBB (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Primary ciliary dyskinesia | ClinVar | PMID:28492532 | retinitis pigmentosa 3 | | ISO | CYBB (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Retinitis pigmentosa 3 | ClinVar | | syndromic X-linked intellectual disability Lubs type | | ISO | CYBB (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type | ClinVar | PMID:25741868 | X-linked chronic granulomatous disease | | ISO | CYBB (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:10068684 more ... | | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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Imported Disease Annotations - CTD
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