LRP4, LDL receptor related protein 4, 4038

N. diseases: 151; N. variants: 23
Disease: SCLEROSTEOSIS 2 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs387906883
rs387906883
Entrez Id: 4038
Gene Symbol: LRP4
LRP4
CUI: C3280402
Disease:
SCLEROSTEOSIS 2 		0.800 GeneticVariation UNIPROT LRP4 third β-propeller domain mutations cause novel congenital myasthenia by compromising agrin-mediated MuSK signaling in a position-specific manner. 24234652 2014
dbSNP: rs387906883
rs387906883
Entrez Id: 4038
Gene Symbol: LRP4
LRP4
CUI: C3280402
Disease:
SCLEROSTEOSIS 2 		0.800 GeneticVariation UNIPROT Bone overgrowth-associated mutations in the LRP4 gene impair sclerostin facilitator function. 21471202 2011
dbSNP: rs387906883
rs387906883
Entrez Id: 4038
Gene Symbol: LRP4
LRP4
CUI: C3280402
Disease:
SCLEROSTEOSIS 2 		G 0.800 CausalMutation CLINVAR