Variant: rs1555447011

present in Gene: PKD1;LOC105371049 present in Chromosome: 16 Position on Chromosome: 2093886 Alleles of this Variant: -/G

rs1555447011 in PKD1;LOC105371049 gene and Dysmorphic features PMID 23064367 2012 Functional polycystin-1 dosage governs autosomal dominant polycystic kidney disease severity.

PMID 19165178 2009 Incompletely penetrant PKD1 alleles suggest a role for gene dosage in cyst initiation in polycystic kidney disease.

PMID 18945943 2009 Unified criteria for ultrasonographic diagnosis of ADPKD.

PMID 20558538 2010 Incompletely penetrant PKD1 alleles mimic the renal manifestations of ARPKD.

PMID 17035604 2006 Cyst number but not the rate of cystic growth is associated with the mutated gene in autosomal dominant polycystic kidney disease.

PMID 26364947 2015 Autosomal dominant polycystic kidney disease.

PMID 11156533 2001 Bilineal disease and trans-heterozygotes in autosomal dominant polycystic kidney disease.

PMID 19346236 2009 Systems biology of autosomal dominant polycystic kidney disease (ADPKD): computational identification of gene expression pathways and integrated regulatory networks.

PMID 18215695 2008 Variation in age at ESRD in autosomal dominant polycystic kidney disease.

PMID 15677307 2005 Progressive loss of renal function is an age-dependent heritable trait in type 1 autosomal dominant polycystic kidney disease.

PMID 10411677 1999 Familial phenotype differences in PKD11.

PMID 11752048 2002 Management of cerebral aneurysms in autosomal dominant polycystic kidney disease.

PMID 12842373 2003 Association of mutation position in polycystic kidney disease 1 (PKD1) gene and development of a vascular phenotype.