Gene: LRP5 ×
Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4041
Gene Symbol: LRP5
LRP5 		0.500 GeneticVariation disease BEFREE Autosomal dominant FEVR (adFEVR), a major form of FEVR and assigned to chromosome 11q13-23 (EVR1) locus, is caused by deletion mutations in the C- terminal region of the frizzled-4 (FZD4) gene. 15370539 2004
Entrez Id: 4041
Gene Symbol: LRP5
LRP5 		0.500 GeneticVariation disease BEFREE Mutations in LRP5 or FZD4 underlie the common familial exudative vitreoretinopathy locus on chromosome 11q. 15024691 2004
Entrez Id: 4041
Gene Symbol: LRP5
LRP5 		0.500 GeneticVariation disease CLINVAR Next-generation sequencing and novel variant determination in a cohort of 92 familial exudative vitreoretinopathy patients. 25711638 2015
Entrez Id: 4041
Gene Symbol: LRP5
LRP5 		0.500 CausalMutation disease CLINVAR Mutations in LRP5 or FZD4 underlie the common familial exudative vitreoretinopathy locus on chromosome 11q. 15024691 2004
Entrez Id: 4041
Gene Symbol: LRP5
LRP5 		0.500 Biomarker disease CTD_human To the best of our knowledge, the ABCA4 c.5693G>A (p.R1898H) mutation has not been reported in FEVR, and the LRP5 c.260T>G (p.I87S) mutation is a novel mutation. 29207047 2018