Imported Disease Annotations - ClinVarObject Symbol | Species | Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | Gphn | Squirrel | cerebral palsy | | ISO | GPHN (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Cerebral palsy | ClinVar | PMID:33073849 | Gphn | Squirrel | cone-rod dystrophy | | ISO | GPHN (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:15258582 more ... | Gphn | Squirrel | epilepsy | | ISO | GPHN (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Seizure | ClinVar | PMID:25741868 | Gphn | Squirrel | Eye Abnormalities | | ISO | GPHN (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Abnormality of the eye | ClinVar | PMID:15258582 more ... | Gphn | Squirrel | fundus dystrophy | | ISO | GPHN (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Retinal dystrophy | ClinVar | PMID:15258582 more ... | Gphn | Squirrel | genetic disease | | ISO | GPHN (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:12684523 more ... | Gphn | Squirrel | genetic disease | | ISO | GPHN (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:12684523 more ... | Gphn | Squirrel | globe disease | | ISO | GPHN (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Globe disease | ClinVar | PMID:15258582 more ... | Gphn | Squirrel | Glycosylphosphatidylinositol Biosynthesis Defect 17 | | ISO | GPHN (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:25741868 more ... | Gphn | Squirrel | hereditary breast ovarian cancer syndrome | | ISO | GPHN (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome | ClinVar | PMID:25741868 | Gphn | Squirrel | hyperekplexia | | ISO | GPHN (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:12684523 more ... | Gphn | Squirrel | hyperekplexia 1 | | ISO | GPHN (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hyperekplexia 1 | ClinVar | PMID:12684523 more ... | Gphn | Squirrel | Leber congenital amaurosis | | ISO | GPHN (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:15258582 more ... | Gphn | Squirrel | Leber congenital amaurosis | | ISO | GPHN (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:15258582 more ... | Gphn | Squirrel | Leber congenital amaurosis | | ISO | GPHN (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:15258582 more ... | Gphn | Squirrel | Leber congenital amaurosis 13 | | ISO | GPHN (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:15258582 more ... | Gphn | Squirrel | macular degeneration | | ISO | GPHN (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Macular dystrophy | ClinVar | PMID:16269441 more ... | Gphn | Squirrel | molybdenum cofactor deficiency type A | | ISO | GPHN (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Molybdenum cofactor deficiency and complementation group A | ClinVar | PMID:25741868 and PMID:28492532 | Gphn | Squirrel | molybdenum cofactor deficiency type C | | ISO | GPHN (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C | ClinVar | PMID:11095995 more ... | Gphn | Squirrel | prostate cancer | | ISO | GPHN (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Malignant tumor of prostate | ClinVar | PMID:23265383 | Gphn | Squirrel | Retinal Dystrophy, Juvenile Cataracts, and Short Stature Syndrome | | ISO | GPHN (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Retinal dystrophy more ... | ClinVar | PMID:24916380 more ... | Gphn | Squirrel | retinitis pigmentosa | | ISO | GPHN (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:15258582 more ... | Gphn | Squirrel | retinitis pigmentosa | | ISO | GPHN (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:15258582 more ... | Gphn | Squirrel | retinitis pigmentosa | | ISO | GPHN (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:15258582 more ... | Gphn | Squirrel | retinitis pigmentosa | | ISO | GPHN (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:15258582 more ... | Gphn | Squirrel | retinitis pigmentosa | | ISO | GPHN (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:15258582 more ... | Gphn | Squirrel | Rett Syndrome, Atypical | | ISO | GPHN (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Atypical Rett syndrome | ClinVar | PMID:25741868 and PMID:33073849 | Gphn | Squirrel | schizophrenia | | ISO | GPHN (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Schizophrenia | ClinVar | | Gphn | Squirrel | Stargardt disease | | ISO | GPHN (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Stargardt disease | ClinVar | PMID:25741868 | Gphn | Squirrel | Stiff-Person syndrome | | ISO | GPHN (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Stiff-person syndrome and congenital | ClinVar | PMID:25741868 and PMID:28492532 | | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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