Imported Disease Annotations - ClinVarObject Symbol | Species | Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | PKD1 | Pig | 46, XY Disorders of Sex Development | | ISO | PKD1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: 46 and XY disorder of sex development | ClinVar | | PKD1 | Pig | Abnormal Cortical Gyration | | ISO | PKD1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Abnormal cortical gyration | ClinVar | PMID:25741868 | PKD1 | Pig | atrial heart septal defect 1 | | ISO | PKD1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: ASD II | ClinVar | PMID:25741868 | PKD1 | Pig | autosomal dominant polycystic kidney disease | | ISO | PKD1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease | ClinVar | PMID:10200984 more ... | PKD1 | Pig | autosomal dominant polycystic kidney disease | | ISO | PKD1 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:10200984 more ... | PKD1 | Pig | autosomal dominant polycystic kidney disease | | ISO | PKD1 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:10200984 more ... | PKD1 | Pig | autosomal recessive polycystic kidney disease | | ISO | PKD1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Autosomal recessive polycystic kidney disease | ClinVar | PMID:25741868 more ... | PKD1 | Pig | bile duct cancer | | ISO | PKD1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Bile duct cancer | ClinVar | PMID:12007219 more ... | PKD1 | Pig | bladder exstrophy-epispadias-cloacal exstrophy complex | | ISO | PKD1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Bladder exstrophy-epispadias-cloacal exstrophy complex | ClinVar | PMID:25741868 and PMID:26467025 | PKD1 | Pig | chronic kidney disease | | ISO | PKD1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Chronic kidney disease | ClinVar | PMID:25741868 | PKD1 | Pig | clubfoot | | ISO | PKD1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Clubfoot | ClinVar | PMID:25741868 | PKD1 | Pig | cystic kidney disease | | ISO | PKD1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Renal cyst | ClinVar | PMID:11115377 more ... | PKD1 | Pig | developmental and epileptic encephalopathy 1 | | ISO | PKD1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Developmental and epileptic encephalopathy and 1 | ClinVar | PMID:28492532 and PMID:30866059 | PKD1 | Pig | end stage renal disease | | ISO | PKD1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Stage 5 chronic kidney disease | ClinVar | PMID:25741868 | PKD1 | Pig | endometrial carcinoma | | ISO | PKD1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Endometrial carcinoma | ClinVar | | PKD1 | Pig | epilepsy | | ISO | PKD1 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:25741868 and PMID:28492532 | PKD1 | Pig | extrahepatic bile duct carcinoma | | ISO | PKD1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Extrahepatic bile duct cancer | ClinVar | PMID:25741868 | PKD1 | Pig | Familial Thoracic Aortic Aneurysm 1 | | ISO | PKD1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Familial thoracic aortic aneurysm | ClinVar | PMID:25741868 | PKD1 | Pig | genetic disease | | ISO | PKD1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:11012875 more ... | PKD1 | Pig | Hereditary Neoplastic Syndromes | | ISO | PKD1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar | PMID:10205261 more ... | PKD1 | Pig | hypertension | | ISO | PKD1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hypertension | ClinVar | PMID:11115377 more ... | PKD1 | Pig | idiopathic generalized epilepsy | | ISO | PKD1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Idiopathic generalized epilepsy | ClinVar | PMID:28492532 | PKD1 | Pig | kidney failure | | ISO | PKD1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Renal failure | ClinVar | | PKD1 | Pig | lymphangioleiomyomatosis | | ISO | PKD1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Lymphangiomyomatosis | ClinVar | PMID:25741868 | PKD1 | Pig | Multicystic Dysplastic Kidney | | ISO | PKD1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Multicystic dysplastic kidney | ClinVar | PMID:25741868 and PMID:26467025 | PKD1 | Pig | oligohydramnios | | ISO | PKD1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: anhydramnios | ClinVar | PMID:25741868 and PMID:35005812 | PKD1 | Pig | Pancreatic Cyst | | ISO | PKD1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Pancreatic cysts | ClinVar | PMID:25741868 | PKD1 | Pig | patent foramen ovale | | ISO | PKD1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Atrial septal defect and ostium secundum type | ClinVar | PMID:25741868 | PKD1 | Pig | periventricular nodular heterotopia | | ISO | PKD1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Periventricular heterotopia | ClinVar | PMID:25741868 | PKD1 | Pig | polycystic kidney disease | | ISO | PKD1 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:10200984 more ... | PKD1 | Pig | polycystic kidney disease | | ISO | PKD1 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:10200984 more ... | PKD1 | Pig | polycystic kidney disease | | ISO | PKD1 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:10200984 more ... | PKD1 | Pig | polycystic kidney disease 1 | | ISO | PKD1 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:10364515 more ... | PKD1 | Pig | polycystic kidney disease 1 | | ISO | PKD1 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:10364515 more ... | PKD1 | Pig | polycystic kidney disease 2 | | ISO | PKD1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Polycystic kidney disease 2 | ClinVar | PMID:11115377 more ... | PKD1 | Pig | polycystic kidney disease 3 | | ISO | PKD1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Polycystic kidney disease 3 with or without polycystic liver disease | ClinVar | PMID:10364515 more ... | PKD1 | Pig | polycystic liver disease 1 | | ISO | PKD1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Polycystic liver disease 1 | ClinVar | PMID:17582161 more ... | PKD1 | Pig | proteinuria | | ISO | PKD1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Proteinuria | ClinVar | PMID:25741868 | PKD1 | Pig | short-rib thoracic dysplasia 9 with or without polydactyly | | ISO | PKD1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Saldino-Mainzer syndrome | ClinVar | PMID:28492532 | PKD1 | Pig | thoracic aortic aneurysm | | ISO | PKD1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Aortic aneurysm and thoracic | ClinVar | PMID:25741868 | PKD1 | Pig | tuberous sclerosis | | ISO | PKD1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Tuberous sclerosis syndrome | ClinVar | PMID:10205261 more ... | PKD1 | Pig | tuberous sclerosis 2 | | ISO | PKD1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Tuberous sclerosis 2 | ClinVar | PMID:10205261 more ... | | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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Imported Disease Annotations - CTD
Imported Disease Annotations - MGI
Imported Disease Annotations - OMIM
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