Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.100 CausalMutation disease CLINVAR Autosomal dominant polycystic kidney disease. 26364947 2015
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.100 GeneticVariation disease CLINVAR Autosomal dominant polycystic kidney disease. 26364947 2015
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.100 GeneticVariation disease CLINVAR Functional polycystin-1 dosage governs autosomal dominant polycystic kidney disease severity. 23064367 2012
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.100 CausalMutation disease CLINVAR Functional polycystin-1 dosage governs autosomal dominant polycystic kidney disease severity. 23064367 2012
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.100 GeneticVariation disease CLINVAR Incompletely penetrant PKD1 alleles mimic the renal manifestations of ARPKD. 20558538 2010
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.100 CausalMutation disease CLINVAR Incompletely penetrant PKD1 alleles mimic the renal manifestations of ARPKD. 20558538 2010
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.100 CausalMutation disease CLINVAR Systems biology of autosomal dominant polycystic kidney disease (ADPKD): computational identification of gene expression pathways and integrated regulatory networks. 19346236 2009
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.100 CausalMutation disease CLINVAR Unified criteria for ultrasonographic diagnosis of ADPKD. 18945943 2009
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.100 GeneticVariation disease CLINVAR Systems biology of autosomal dominant polycystic kidney disease (ADPKD): computational identification of gene expression pathways and integrated regulatory networks. 19346236 2009
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.100 CausalMutation disease CLINVAR Incompletely penetrant PKD1 alleles suggest a role for gene dosage in cyst initiation in polycystic kidney disease. 19165178 2009
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.100 GeneticVariation disease CLINVAR Unified criteria for ultrasonographic diagnosis of ADPKD. 18945943 2009
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.100 GeneticVariation disease CLINVAR Incompletely penetrant PKD1 alleles suggest a role for gene dosage in cyst initiation in polycystic kidney disease. 19165178 2009
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.100 CausalMutation disease CLINVAR Variation in age at ESRD in autosomal dominant polycystic kidney disease. 18215695 2008
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.100 GeneticVariation disease CLINVAR Variation in age at ESRD in autosomal dominant polycystic kidney disease. 18215695 2008
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.100 GeneticVariation disease CLINVAR Cyst number but not the rate of cystic growth is associated with the mutated gene in autosomal dominant polycystic kidney disease. 17035604 2006
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.100 CausalMutation disease CLINVAR Cyst number but not the rate of cystic growth is associated with the mutated gene in autosomal dominant polycystic kidney disease. 17035604 2006
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.100 CausalMutation disease CLINVAR Progressive loss of renal function is an age-dependent heritable trait in type 1 autosomal dominant polycystic kidney disease. 15677307 2005
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.100 GeneticVariation disease CLINVAR Progressive loss of renal function is an age-dependent heritable trait in type 1 autosomal dominant polycystic kidney disease. 15677307 2005
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.100 CausalMutation disease CLINVAR Association of mutation position in polycystic kidney disease 1 (PKD1) gene and development of a vascular phenotype. 12842373 2003
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.100 GeneticVariation disease CLINVAR Association of mutation position in polycystic kidney disease 1 (PKD1) gene and development of a vascular phenotype. 12842373 2003
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.100 GeneticVariation disease CLINVAR Management of cerebral aneurysms in autosomal dominant polycystic kidney disease. 11752048 2002
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.100 CausalMutation disease CLINVAR Management of cerebral aneurysms in autosomal dominant polycystic kidney disease. 11752048 2002
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.100 CausalMutation disease CLINVAR Bilineal disease and trans-heterozygotes in autosomal dominant polycystic kidney disease. 11156533 2001
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.100 GeneticVariation disease CLINVAR Bilineal disease and trans-heterozygotes in autosomal dominant polycystic kidney disease. 11156533 2001
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.100 GeneticVariation disease CLINVAR Familial phenotype differences in PKD11. 10411677 1999