Source: UNIPROT

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs80358314
rs80358314
LRP5
CUI: C1866176
Disease: EXUDATIVE VITREORETINOPATHY 4 (disorder)
EXUDATIVE VITREORETINOPATHY 4 (disorder) 		0.700 GeneticVariation UNIPROT Identification of two novel LRP5 mutations in families with familial exudative vitreoretinopathy. 24715757

2014
dbSNP: rs80358314
rs80358314
LRP5
CUI: C1866176
Disease: EXUDATIVE VITREORETINOPATHY 4 (disorder)
EXUDATIVE VITREORETINOPATHY 4 (disorder) 		0.700 GeneticVariation UNIPROT Overview of the mutation spectrum in familial exudative vitreoretinopathy and Norrie disease with identification of 21 novel variants in FZD4, LRP5, and NDP. 20340138

2010
dbSNP: rs80358314
rs80358314
LRP5
CUI: C1866176
Disease: EXUDATIVE VITREORETINOPATHY 4 (disorder)
EXUDATIVE VITREORETINOPATHY 4 (disorder) 		0.700 GeneticVariation UNIPROT Clinical and molecular evaluation of probands and family members with familial exudative vitreoretinopathy. 19324841

2009
dbSNP: rs80358314
rs80358314
LRP5
CUI: C1866176
Disease: EXUDATIVE VITREORETINOPATHY 4 (disorder)
EXUDATIVE VITREORETINOPATHY 4 (disorder) 		0.700 GeneticVariation UNIPROT Reduced bone mineral density and hyaloid vasculature remnants in a consanguineous recessive FEVR family with a mutation in LRP5. 16929062

2006
dbSNP: rs80358314
rs80358314
LRP5
CUI: C1866176
Disease: EXUDATIVE VITREORETINOPATHY 4 (disorder)
EXUDATIVE VITREORETINOPATHY 4 (disorder) 		0.700 GeneticVariation UNIPROT Complexity of the genotype-phenotype correlation in familial exudative vitreoretinopathy with mutations in the LRP5 and/or FZD4 genes. 15981244

2005
dbSNP: rs80358314
rs80358314
LRP5
CUI: C1866176
Disease: EXUDATIVE VITREORETINOPATHY 4 (disorder)
EXUDATIVE VITREORETINOPATHY 4 (disorder) 		0.700 GeneticVariation UNIPROT Clinical and molecular findings in osteoporosis-pseudoglioma syndrome. 16252235

2005
dbSNP: rs80358314
rs80358314
LRP5
CUI: C1866176
Disease: EXUDATIVE VITREORETINOPATHY 4 (disorder)
EXUDATIVE VITREORETINOPATHY 4 (disorder) 		0.700 GeneticVariation UNIPROT Mutations in LRP5 or FZD4 underlie the common familial exudative vitreoretinopathy locus on chromosome 11q. 15024691

2004
dbSNP: rs80358314
rs80358314
LRP5
CUI: C1866176
Disease: EXUDATIVE VITREORETINOPATHY 4 (disorder)
EXUDATIVE VITREORETINOPATHY 4 (disorder) 		0.700 GeneticVariation UNIPROT Autosomal recessive familial exudative vitreoretinopathy is associated with mutations in LRP5. 15346351

2004