Imported Disease Annotations - ClinVarObject Symbol | Species | Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | EFEMP1 | Pig | bladder diverticulum | | ISO | EFEMP1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Diverticulum of bladder | ClinVar | PMID:25741868 and PMID:31792352 | EFEMP1 | Pig | blindness | | ISO | EFEMP1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Blindness | ClinVar | PMID:25741868 | EFEMP1 | Pig | cutis laxa | | ISO | EFEMP1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Cutis laxa | ClinVar | PMID:25741868 and PMID:33807164 | EFEMP1 | Pig | CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE 1D | | ISO | EFEMP1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Cutis laxa more ... | ClinVar | PMID:22489068 more ... | EFEMP1 | Pig | Doyne honeycomb retinal dystrophy | | ISO | EFEMP1 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:10369267 more ... | EFEMP1 | Pig | fundus dystrophy | | ISO | EFEMP1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Retinal dystrophy | ClinVar | PMID:10369267 more ... | EFEMP1 | Pig | genetic disease | | ISO | EFEMP1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:28492532 | EFEMP1 | Pig | Glaucoma 1, Open Angle, H | | ISO | EFEMP1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Glaucoma 1 more ... | ClinVar | PMID:25741868 more ... | EFEMP1 | Pig | juvenile glaucoma | | ISO | EFEMP1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Glaucoma of childhood | ClinVar | PMID:28492532 and PMID:34923728 | EFEMP1 | Pig | Marfan Syndrome, Autosomal Recessive | | ISO | EFEMP1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Recessive Marfanoid Syndrome with Severe Herniation | ClinVar | PMID:22489068 more ... | EFEMP1 | Pig | Radial Drusen, Autosomal Dominant | | ISO | EFEMP1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: DRUSEN more ... | ClinVar | PMID:28492532 | | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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Imported Disease Annotations - CTD
Imported Disease Annotations - OMIM
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