Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | 46, XY Disorders of Sex Development | | ISO | PKD1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: 46 and XY disorder of sex development | ClinVar | | aortitis | | ISO | PKD1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Large vessel vasculitis | ClinVar | | autosomal dominant polycystic kidney disease | | ISO | PKD1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease | ClinVar | PMID:10200984 more ... | autosomal dominant polycystic kidney disease | | ISO | PKD1 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:10200984 more ... | autosomal recessive polycystic kidney disease | | ISO | PKD1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Autosomal recessive polycystic kidney disease | ClinVar | PMID:25741868 more ... | bile duct cancer | | ISO | PKD1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Bile duct cancer | ClinVar | PMID:12007219 more ... | 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 | chronic kidney disease | | ISO | PKD1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Chronic kidney disease | ClinVar | PMID:25741868 | clubfoot | | ISO | PKD1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Clubfoot | ClinVar | PMID:25741868 | cystic kidney disease | | ISO | PKD1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Renal cyst | ClinVar | PMID:11115377 more ... | developmental and epileptic encephalopathy 1 | | ISO | PKD1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Developmental and epileptic encephalopathy and 1 | ClinVar | PMID:28492532 | end stage renal disease | | ISO | PKD1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Stage 5 chronic kidney disease | ClinVar | PMID:25741868 | endometrial carcinoma | | ISO | PKD1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Endometrial carcinoma | ClinVar | | epilepsy | | ISO | PKD1 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:25741868 and PMID:28492532 | genetic disease | | ISO | PKD1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:11012875 more ... | hypertension | | ISO | PKD1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hypertension | ClinVar | PMID:11115377 more ... | idiopathic generalized epilepsy | | ISO | PKD1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Idiopathic generalized epilepsy | ClinVar | PMID:28492532 | kidney failure | | ISO | PKD1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Renal failure | ClinVar | | lymphangioleiomyomatosis | | ISO | PKD1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Lymphangiomyomatosis | ClinVar | PMID:25741868 | oligohydramnios | | ISO | PKD1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: anhydramnios | ClinVar | PMID:25741868 and PMID:35005812 | Pancreatic Cyst | | ISO | PKD1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Pancreatic cysts | ClinVar | PMID:25741868 | polycystic kidney disease | | ISO | PKD1 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:10200984 more ... | polycystic kidney disease | | ISO | PKD1 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:10200984 more ... | polycystic kidney disease | | ISO | PKD1 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:10200984 more ... | polycystic kidney disease 1 | | ISO | PKD1 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:10364515 more ... | 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 ... | Polycystic Liver Disease 1 | | ISO | PKD1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Polycystic liver disease 1 | ClinVar | PMID:17582161 more ... | proteinuria | | ISO | PKD1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Proteinuria | ClinVar | PMID:25741868 | 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 | tuberous sclerosis | | ISO | PKD1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Tuberous sclerosis syndrome | ClinVar | | 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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