Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | adrenocorticotropic hormone deficiency | | ISO | RPE65 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: ACTH deficiency | ClinVar | PMID:18632300 more ... | autistic disorder | | ISO | RPE65 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Autism | ClinVar | PMID:32581362 | cone-rod dystrophy | | ISO | RPE65 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Cone-rod degeneration | ClinVar | | cone-rod dystrophy 15 | | ISO | RPE65 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Cone-rod dystrophy 15 | ClinVar | PMID:25741868 and PMID:28492532 | Eye Abnormalities | | ISO | RPE65 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Abnormality of the eye | ClinVar | PMID:10766140 more ... | fundus dystrophy | | ISO | RPE65 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Retinal dystrophy | ClinVar | PMID:10766140 more ... | genetic disease | | ISO | RPE65 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:10766140 more ... | intellectual disability | | ISO | RPE65 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Intellectual disability and severe | ClinVar | PMID:25741868 | Joubert syndrome 9 | | ISO | RPE65 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Joubert syndrome 9 | ClinVar | PMID:10766140 more ... | Leber congenital amaurosis | | ISO | RPE65 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:10090910 more ... | Leber congenital amaurosis | | ISO | RPE65 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:10090910 more ... | Leber congenital amaurosis 2 | | ISO | RPE65 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:10090910 more ... | nephrotic syndrome type 5 | | ISO | RPE65 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Mesangial sclerosis more ... | ClinVar | PMID:20811047 more ... | Neurodevelopmental Disorders | | ISO | RPE65 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Neurodevelopmental disorder | ClinVar | PMID:21654732 more ... | retinal degeneration | | ISO | RPE65 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Retinal degeneration | ClinVar | PMID:16199547 more ... | retinitis pigmentosa | | ISO | RPE65 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:10090910 more ... | retinitis pigmentosa | | ISO | RPE65 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:10090910 more ... | retinitis pigmentosa 20 | | ISO | RPE65 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Retinitis pigmentosa 20 | ClinVar | PMID:10090910 more ... | retinitis pigmentosa 87 | | ISO | RPE65 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Retinitis pigmentosa 87 with choroidal involvement | ClinVar | PMID:10090910 more ... | | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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Imported Disease Annotations - CTD
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