Disease: Dysmorphic features ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1555447011
rs1555447011
Entrez Id: 5310;105371049
Gene Symbol: PKD1;LOC105371049
PKD1;LOC105371049
CUI: C0432072
Disease:
Dysmorphic features 		CG 0.700 CausalMutation CLINVAR Autosomal dominant polycystic kidney disease. 26364947 2015
dbSNP: rs797044902
rs797044902
Entrez Id: 5310;102465429
Gene Symbol: PKD1;MIR6511B1
PKD1;MIR6511B1
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 GeneticVariation CLINVAR Autosomal dominant polycystic kidney disease. 26364947 2015
dbSNP: rs1555447011
rs1555447011
Entrez Id: 5310;105371049
Gene Symbol: PKD1;LOC105371049
PKD1;LOC105371049
CUI: C0432072
Disease:
Dysmorphic features 		CG 0.700 CausalMutation CLINVAR Functional polycystin-1 dosage governs autosomal dominant polycystic kidney disease severity. 23064367 2012
dbSNP: rs797044902
rs797044902
Entrez Id: 5310;102465429
Gene Symbol: PKD1;MIR6511B1
PKD1;MIR6511B1
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 GeneticVariation CLINVAR Functional polycystin-1 dosage governs autosomal dominant polycystic kidney disease severity. 23064367 2012
dbSNP: rs1555447011
rs1555447011
Entrez Id: 5310;105371049
Gene Symbol: PKD1;LOC105371049
PKD1;LOC105371049
CUI: C0432072
Disease:
Dysmorphic features 		CG 0.700 CausalMutation CLINVAR Incompletely penetrant PKD1 alleles mimic the renal manifestations of ARPKD. 20558538 2010
dbSNP: rs797044902
rs797044902
Entrez Id: 5310;102465429
Gene Symbol: PKD1;MIR6511B1
PKD1;MIR6511B1
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 GeneticVariation CLINVAR Incompletely penetrant PKD1 alleles mimic the renal manifestations of ARPKD. 20558538 2010
dbSNP: rs1555447011
rs1555447011
Entrez Id: 5310;105371049
Gene Symbol: PKD1;LOC105371049
PKD1;LOC105371049
CUI: C0432072
Disease:
Dysmorphic features 		CG 0.700 CausalMutation CLINVAR Unified criteria for ultrasonographic diagnosis of ADPKD. 18945943 2009
dbSNP: rs1555447011
rs1555447011
Entrez Id: 5310;105371049
Gene Symbol: PKD1;LOC105371049
PKD1;LOC105371049
CUI: C0432072
Disease:
Dysmorphic features 		CG 0.700 CausalMutation CLINVAR Systems biology of autosomal dominant polycystic kidney disease (ADPKD): computational identification of gene expression pathways and integrated regulatory networks. 19346236 2009
dbSNP: rs1555447011
rs1555447011
Entrez Id: 5310;105371049
Gene Symbol: PKD1;LOC105371049
PKD1;LOC105371049
CUI: C0432072
Disease:
Dysmorphic features 		CG 0.700 CausalMutation CLINVAR Incompletely penetrant PKD1 alleles suggest a role for gene dosage in cyst initiation in polycystic kidney disease. 19165178 2009
dbSNP: rs797044902
rs797044902
Entrez Id: 5310;102465429
Gene Symbol: PKD1;MIR6511B1
PKD1;MIR6511B1
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 GeneticVariation CLINVAR Incompletely penetrant PKD1 alleles suggest a role for gene dosage in cyst initiation in polycystic kidney disease. 19165178 2009
dbSNP: rs797044902
rs797044902
Entrez Id: 5310;102465429
Gene Symbol: PKD1;MIR6511B1
PKD1;MIR6511B1
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 GeneticVariation CLINVAR Systems biology of autosomal dominant polycystic kidney disease (ADPKD): computational identification of gene expression pathways and integrated regulatory networks. 19346236 2009
dbSNP: rs797044902
rs797044902
Entrez Id: 5310;102465429
Gene Symbol: PKD1;MIR6511B1
PKD1;MIR6511B1
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 GeneticVariation CLINVAR Unified criteria for ultrasonographic diagnosis of ADPKD. 18945943 2009
dbSNP: rs1555447011
rs1555447011
Entrez Id: 5310;105371049
Gene Symbol: PKD1;LOC105371049
PKD1;LOC105371049
CUI: C0432072
Disease:
Dysmorphic features 		CG 0.700 CausalMutation CLINVAR Variation in age at ESRD in autosomal dominant polycystic kidney disease. 18215695 2008
dbSNP: rs797044902
rs797044902
Entrez Id: 5310;102465429
Gene Symbol: PKD1;MIR6511B1
PKD1;MIR6511B1
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 GeneticVariation CLINVAR Variation in age at ESRD in autosomal dominant polycystic kidney disease. 18215695 2008
dbSNP: rs1555447011
rs1555447011
Entrez Id: 5310;105371049
Gene Symbol: PKD1;LOC105371049
PKD1;LOC105371049
CUI: C0432072
Disease:
Dysmorphic features 		CG 0.700 CausalMutation CLINVAR Cyst number but not the rate of cystic growth is associated with the mutated gene in autosomal dominant polycystic kidney disease. 17035604 2006
dbSNP: rs797044902
rs797044902
Entrez Id: 5310;102465429
Gene Symbol: PKD1;MIR6511B1
PKD1;MIR6511B1
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 GeneticVariation CLINVAR Cyst number but not the rate of cystic growth is associated with the mutated gene in autosomal dominant polycystic kidney disease. 17035604 2006
dbSNP: rs1555447011
rs1555447011
Entrez Id: 5310;105371049
Gene Symbol: PKD1;LOC105371049
PKD1;LOC105371049
CUI: C0432072
Disease:
Dysmorphic features 		CG 0.700 CausalMutation CLINVAR Progressive loss of renal function is an age-dependent heritable trait in type 1 autosomal dominant polycystic kidney disease. 15677307 2005
dbSNP: rs797044902
rs797044902
Entrez Id: 5310;102465429
Gene Symbol: PKD1;MIR6511B1
PKD1;MIR6511B1
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 GeneticVariation CLINVAR Progressive loss of renal function is an age-dependent heritable trait in type 1 autosomal dominant polycystic kidney disease. 15677307 2005
dbSNP: rs1555447011
rs1555447011
Entrez Id: 5310;105371049
Gene Symbol: PKD1;LOC105371049
PKD1;LOC105371049
CUI: C0432072
Disease:
Dysmorphic features 		CG 0.700 CausalMutation CLINVAR Association of mutation position in polycystic kidney disease 1 (PKD1) gene and development of a vascular phenotype. 12842373 2003
dbSNP: rs797044902
rs797044902
Entrez Id: 5310;102465429
Gene Symbol: PKD1;MIR6511B1
PKD1;MIR6511B1
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 GeneticVariation CLINVAR Association of mutation position in polycystic kidney disease 1 (PKD1) gene and development of a vascular phenotype. 12842373 2003
dbSNP: rs1555447011
rs1555447011
Entrez Id: 5310;105371049
Gene Symbol: PKD1;LOC105371049
PKD1;LOC105371049
CUI: C0432072
Disease:
Dysmorphic features 		CG 0.700 CausalMutation CLINVAR Management of cerebral aneurysms in autosomal dominant polycystic kidney disease. 11752048 2002
dbSNP: rs797044902
rs797044902
Entrez Id: 5310;102465429
Gene Symbol: PKD1;MIR6511B1
PKD1;MIR6511B1
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 GeneticVariation CLINVAR Management of cerebral aneurysms in autosomal dominant polycystic kidney disease. 11752048 2002
dbSNP: rs1555447011
rs1555447011
Entrez Id: 5310;105371049
Gene Symbol: PKD1;LOC105371049
PKD1;LOC105371049
CUI: C0432072
Disease:
Dysmorphic features 		CG 0.700 CausalMutation CLINVAR Bilineal disease and trans-heterozygotes in autosomal dominant polycystic kidney disease. 11156533 2001
dbSNP: rs797044902
rs797044902
Entrez Id: 5310;102465429
Gene Symbol: PKD1;MIR6511B1
PKD1;MIR6511B1
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 GeneticVariation CLINVAR Bilineal disease and trans-heterozygotes in autosomal dominant polycystic kidney disease. 11156533 2001
dbSNP: rs1555447011
rs1555447011
Entrez Id: 5310;105371049
Gene Symbol: PKD1;LOC105371049
PKD1;LOC105371049
CUI: C0432072
Disease:
Dysmorphic features 		CG 0.700 CausalMutation CLINVAR Familial phenotype differences in PKD11. 10411677 1999