Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | achromatopsia | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Achromatopsia | ClinVar | PMID:25741868 | achromatopsia | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Achromatopsia | ClinVar | PMID:12077706 more ... | achromatopsia 4 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Achromatopsia 4 | ClinVar | PMID:12077706 and PMID:15557429 | achromatopsia 4 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Achromatopsia 4 | ClinVar | PMID:28492532 | achromatopsia 4 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Achromatopsia 4 | ClinVar | PMID:25741868 and PMID:28492532 | achromatopsia 4 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Achromatopsia 4 | ClinVar | PMID:25741868 and PMID:28492532 | achromatopsia 4 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Achromatopsia 4 | ClinVar | PMID:25741868 and PMID:28492532 | achromatopsia 4 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Achromatopsia 4 | ClinVar | PMID:25741868 and PMID:28492532 | achromatopsia 4 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Achromatopsia 4 | ClinVar | PMID:25741868 and PMID:28492532 | achromatopsia 4 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Achromatopsia 4 | ClinVar | PMID:25741868 and PMID:28492532 | achromatopsia 4 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Achromatopsia 4 | ClinVar | PMID:25741868 and PMID:28492532 | achromatopsia 4 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Achromatopsia 4 | ClinVar | PMID:25741868 and PMID:28492532 | achromatopsia 4 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Achromatopsia 4 | ClinVar | PMID:25741868 more ... | achromatopsia 4 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Achromatopsia 4 | ClinVar | PMID:12077706 more ... | achromatopsia 4 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Achromatopsia 4 | ClinVar | PMID:28492532 and PMID:31058429 | achromatopsia 4 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Achromatopsia 4 | ClinVar | PMID:18643908 more ... | achromatopsia 4 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Achromatopsia 4 | ClinVar | PMID:28492532 and PMID:31058429 | achromatopsia 4 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Achromatopsia 4 | ClinVar | PMID:28492532 | achromatopsia 4 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Achromatopsia 4 | ClinVar | PMID:28492532 | achromatopsia 4 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Achromatopsia 4 | ClinVar | PMID:28492532 | achromatopsia 4 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Achromatopsia 4 | ClinVar | PMID:25741868 | achromatopsia 4 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Achromatopsia 4 | ClinVar | | achromatopsia 4 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Achromatopsia 4 | ClinVar | PMID:28492532 | achromatopsia 4 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Achromatopsia 4 | ClinVar | | achromatopsia 4 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Achromatopsia 4 | ClinVar | | achromatopsia 4 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Achromatopsia 4 | ClinVar | | achromatopsia 4 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Achromatopsia 4 | ClinVar | | achromatopsia 4 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Achromatopsia 4 | ClinVar | | achromatopsia 4 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Achromatopsia 4 | ClinVar | PMID:28492532 | achromatopsia 4 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Achromatopsia 4 | ClinVar | PMID:25741868 and PMID:28492532 | achromatopsia 4 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Achromatopsia 4 | ClinVar | | achromatopsia 4 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Achromatopsia 4 | ClinVar | PMID:12077706 | achromatopsia 4 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Achromatopsia 4 | ClinVar | PMID:25741868 | achromatopsia 4 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Achromatopsia 4 | ClinVar | PMID:25741868 | achromatopsia 4 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Achromatopsia 4 | ClinVar | PMID:12077706 | achromatopsia 4 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Achromatopsia 4 | ClinVar | PMID:25741868 and PMID:28492532 | achromatopsia 4 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Achromatopsia 4 | ClinVar | PMID:28492532 | achromatopsia 4 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Achromatopsia 4 | ClinVar | PMID:25741868 and PMID:28492532 | achromatopsia 4 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Achromatopsia 4 | ClinVar | PMID:12205108 | achromatopsia 4 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Achromatopsia 4 | ClinVar | PMID:25741868 and PMID:28492532 | achromatopsia 4 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Achromatopsia 4 | ClinVar | | achromatopsia 4 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Achromatopsia 4 | ClinVar | PMID:25741868 | achromatopsia 4 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Achromatopsia 4 | ClinVar | PMID:12077706 | achromatopsia 4 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Achromatopsia 4 | ClinVar | PMID:12077706 | achromatopsia 4 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Achromatopsia 4 | ClinVar | | achromatopsia 4 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Achromatopsia 4 | ClinVar | | achromatopsia 4 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Achromatopsia 4 | ClinVar | | achromatopsia 4 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Achromatopsia 4 | ClinVar | PMID:28492532 | achromatopsia 4 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Achromatopsia 4 | ClinVar | | achromatopsia 4 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Achromatopsia 4 | ClinVar | PMID:12077706 and PMID:28492532 | achromatopsia 4 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Achromatopsia 4 | ClinVar | PMID:28492532 | achromatopsia 4 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Achromatopsia 4 | ClinVar | PMID:28492532 | achromatopsia 4 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Achromatopsia 4 | ClinVar | PMID:25741868 and PMID:28492532 | autistic disorder | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Autistic disorder of childhood onset | ClinVar | PMID:21681106 and PMID:30208311 | cone dystrophy | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Cone dystrophy | ClinVar | PMID:25741868 | cone dystrophy | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Cone dystrophy | ClinVar | PMID:25741868 more ... | Eye Abnormalities | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Abnormality of the eye | ClinVar | PMID:28041643 | fundus dystrophy | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Retinal dystrophy | ClinVar | | fundus dystrophy | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Retinal dystrophy | ClinVar | | genetic disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:25741868 and PMID:28492532 | genetic disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:25741868 and PMID:28492532 | genetic disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:25741868 and PMID:28492532 | genetic disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:28492532 | genetic disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:25741868 and PMID:28492532 | genetic disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | genetic disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | genetic disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:28492532 | hereditary spastic paraplegia 63 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Spastic paraplegia 63 and autosomal recessive | ClinVar | PMID:28492532 | hereditary spastic paraplegia 63 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 | ClinVar | PMID:23911318 and PMID:28492532 | |