Variant: rs80358312 

    present in Gene: LRP5
    present in Chromosome: 11
    Position on Chromosome: 68403607
    Alleles of this Variant: G/A

rs80358312 in LRP5 gene and EXUDATIVE VITREORETINOPATHY 4 (disorder) PMID 24715757 2014 Identification of two novel LRP5 mutations in families with familial exudative vitreoretinopathy.

PMID 15346351 2004 Autosomal recessive familial exudative vitreoretinopathy is associated with mutations in LRP5.

PMID 15981244 2005 Complexity of the genotype-phenotype correlation in familial exudative vitreoretinopathy with mutations in the LRP5 and/or FZD4 genes.

PMID 16929062 2006 Reduced bone mineral density and hyaloid vasculature remnants in a consanguineous recessive FEVR family with a mutation in LRP5.

PMID 15024691 2004 Mutations in LRP5 or FZD4 underlie the common familial exudative vitreoretinopathy locus on chromosome 11q.

PMID 19324841 2009 Clinical and molecular evaluation of probands and family members with familial exudative vitreoretinopathy.

PMID 16252235 2005 Clinical and molecular findings in osteoporosis-pseudoglioma syndrome.

PMID 20340138 2010 Overview of the mutation spectrum in familial exudative vitreoretinopathy and Norrie disease with identification of 21 novel variants in FZD4, LRP5, and NDP.

rs80358312 in LRP5 gene and Multiple congenital anomalies PMID 12579474 2003 Six novel missense mutations in the LDL receptor-related protein 5 (LRP5) gene in different conditions with an increased bone density.

PMID 15824851 2005 Heterozygous mutations in the LDL receptor-related protein 5 (LRP5) gene are associated with primary osteoporosis in children.

PMID 20652025 2010 LRP5 is required for vascular development in deeper layers of the retina.

PMID 11719191 2001 LDL receptor-related protein 5 (LRP5) affects bone accrual and eye development.

PMID 12054167 2002 Localization of the gene causing autosomal dominant osteopetrosis type I to chromosome 11q12-13.

PMID 15346351 2004 Autosomal recessive familial exudative vitreoretinopathy is associated with mutations in LRP5.

PMID 28111184 2017 LRP5-linked osteoporosis-pseudoglioma syndrome mimicking isolated microphthalmia.

PMID 28677207 2017 New role of LRP5, associated with nonsyndromic autosomal-recessive hereditary hearing loss.

PMID 22487062 2012 Mutations in LRP5 cause primary osteoporosis without features of OI by reducing Wnt signaling activity.

rs80358312 in LRP5 gene and Muscle hypotonia PMID 15824851 2005 Heterozygous mutations in the LDL receptor-related protein 5 (LRP5) gene are associated with primary osteoporosis in children.

PMID 20652025 2010 LRP5 is required for vascular development in deeper layers of the retina.

PMID 28111184 2017 LRP5-linked osteoporosis-pseudoglioma syndrome mimicking isolated microphthalmia.

PMID 28677207 2017 New role of LRP5, associated with nonsyndromic autosomal-recessive hereditary hearing loss.

PMID 22487062 2012 Mutations in LRP5 cause primary osteoporosis without features of OI by reducing Wnt signaling activity.

PMID 15346351 2004 Autosomal recessive familial exudative vitreoretinopathy is associated with mutations in LRP5.

PMID 12054167 2002 Localization of the gene causing autosomal dominant osteopetrosis type I to chromosome 11q12-13.

PMID 11719191 2001 LDL receptor-related protein 5 (LRP5) affects bone accrual and eye development.

PMID 12579474 2003 Six novel missense mutations in the LDL receptor-related protein 5 (LRP5) gene in different conditions with an increased bone density.