KEGG   VARIANT: 4040v2
Entry
4040v2                      Variant                                
Name
LRP6 mutation
Type
Loss of function
Gene
LRP6  LDL receptor related protein 6 [KO:K03068]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 603507
Network
nt06505  WNT signaling
Disease
H00589  Familial exudative vitreoretinopathy
H00625  Tooth agenesis
Reference
PMID:29969831
  Authors
Yu M, Wong SW, Han D, Cai T
  Title
Genetic analysis: Wnt and other pathways in nonsyndromic tooth agenesis.
  Journal
Oral Dis 25:646-651 (2019)
DOI:10.1111/odi.12931
Reference
PMID:35052478
  Authors
Martinez-Gil N, Ugartondo N, Grinberg D, Balcells S
  Title
Wnt Pathway Extracellular Components and Their Essential Roles in Bone Homeostasis.
  Journal
Genes (Basel) 13:138 (2022)
DOI:10.3390/genes13010138
Reference
PMID:34896607
  Authors
Li S, Yang M, He Y, Jiang X, Zhao R, Liu W, Huang L, Shi Y, Li X, Sun K, Yang Y, Sundaresan P, Zhao P, Yang Z, Zhu X
  Title
Variants in the Wnt co-receptor LRP6 are associated with familial exudative vitreoretinopathy.
  Journal
J Genet Genomics 49:590-594 (2022)
DOI:10.1016/j.jgg.2021.11.010
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