Source: ORPHANET

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4041
Gene Symbol: LRP5
LRP5
CUI: C0432252
Disease: Osteoporosis with pseudoglioma
Osteoporosis with pseudoglioma 		1.000 GermlineCausalMutation ORPHANET Osteoporosis-pseudoglioma sydrome (OPPG) is an autosomal recessive disorder with early-onset severe osteoporosis and blindness, caused by biallelic loss-of-function mutations in the low-density lipoprotein receptor-related protein 5 (LRP5) gene. 21407258

2011
Entrez Id: 4041
Gene Symbol: LRP5
LRP5
CUI: C0432252
Disease: Osteoporosis with pseudoglioma
Osteoporosis with pseudoglioma 		1.000 GermlineCausalMutation ORPHANET A family with osteoporosis pseudoglioma syndrome due to compound heterozygosity of two novel mutations in the LRP5 gene. 16679074

2006
Entrez Id: 4041
Gene Symbol: LRP5
LRP5
CUI: C0432252
Disease: Osteoporosis with pseudoglioma
Osteoporosis with pseudoglioma 		1.000 GermlineCausalMutation ORPHANET Clinical and molecular findings in osteoporosis-pseudoglioma syndrome. 16252235

2005