Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | achromatopsia | | ISO | CABP4 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Achromatopsia | ClinVar | PMID:19074807 more ... | Aicardi-Goutieres Syndrome 3 | | ISO | CABP4 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 | ClinVar | PMID:28492532 | Aland Island eye disease | | ISO | CABP4 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Ocular albinism and type II | ClinVar | PMID:30718709 | cone dystrophy | | ISO | CABP4 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Cone dystrophy | ClinVar | PMID:25307992 more ... | cone-rod dystrophy | | ISO | CABP4 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Cone-rod dystrophy | ClinVar | PMID:19074807 more ... | congenital stationary night blindness | | ISO | CABP4 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:25741868 and PMID:28492532 | Congenital Stationary Night Blindness 2B | | ISO | CABP4 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Cone-rod synaptic disorder and congenital nonprogressive | ClinVar | PMID:16960802 more ... | fundus dystrophy | | ISO | CABP4 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Retinal dystrophy | ClinVar | PMID:25307992 more ... | genetic disease | | ISO | CABP4 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:28492532 | intellectual disability | | ISO | CABP4 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Intellectual disability | ClinVar | | Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations | | ISO | CABP4 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Infections more ... | ClinVar | PMID:28492532 | Usher syndrome | | ISO | CABP4 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Usher syndrome | ClinVar | PMID:25741868 and PMID:28492532 | | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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Imported Disease Annotations - OMIM
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