Dysmorphic features
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
Autosomal dominant polycystic kidney disease.
|
26364947 |
2015 |
Dysmorphic features
|
0.100 |
GeneticVariation
|
disease |
CLINVAR |
Autosomal dominant polycystic kidney disease.
|
26364947 |
2015 |
Dysmorphic features
|
0.100 |
GeneticVariation
|
disease |
CLINVAR |
Functional polycystin-1 dosage governs autosomal dominant polycystic kidney disease severity.
|
23064367 |
2012 |
Dysmorphic features
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
Functional polycystin-1 dosage governs autosomal dominant polycystic kidney disease severity.
|
23064367 |
2012 |
Dysmorphic features
|
0.100 |
GeneticVariation
|
disease |
CLINVAR |
Incompletely penetrant PKD1 alleles mimic the renal manifestations of ARPKD.
|
20558538 |
2010 |
Dysmorphic features
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
Incompletely penetrant PKD1 alleles mimic the renal manifestations of ARPKD.
|
20558538 |
2010 |
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 |
Dysmorphic features
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
Unified criteria for ultrasonographic diagnosis of ADPKD.
|
18945943 |
2009 |
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 |
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 |
Dysmorphic features
|
0.100 |
GeneticVariation
|
disease |
CLINVAR |
Unified criteria for ultrasonographic diagnosis of ADPKD.
|
18945943 |
2009 |
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 |
Dysmorphic features
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
Variation in age at ESRD in autosomal dominant polycystic kidney disease.
|
18215695 |
2008 |
Dysmorphic features
|
0.100 |
GeneticVariation
|
disease |
CLINVAR |
Variation in age at ESRD in autosomal dominant polycystic kidney disease.
|
18215695 |
2008 |
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 |
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 |
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 |
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 |
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 |
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 |
Dysmorphic features
|
0.100 |
GeneticVariation
|
disease |
CLINVAR |
Management of cerebral aneurysms in autosomal dominant polycystic kidney disease.
|
11752048 |
2002 |
Dysmorphic features
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
Management of cerebral aneurysms in autosomal dominant polycystic kidney disease.
|
11752048 |
2002 |
Dysmorphic features
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
Bilineal disease and trans-heterozygotes in autosomal dominant polycystic kidney disease.
|
11156533 |
2001 |
Dysmorphic features
|
0.100 |
GeneticVariation
|
disease |
CLINVAR |
Bilineal disease and trans-heterozygotes in autosomal dominant polycystic kidney disease.
|
11156533 |
2001 |
Dysmorphic features
|
0.100 |
GeneticVariation
|
disease |
CLINVAR |
Familial phenotype differences in PKD11.
|
10411677 |
1999 |