rs387906678, FGFR2

N. diseases: 5
Disease: BENT BONE DYSPLASIA SYNDROME ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
BENT BONE DYSPLASIA SYNDROME
CUI: C3281247
Disease: BENT BONE DYSPLASIA SYNDROME
0.800 GeneticVariation UNIPROT Bent bone dysplasia-FGFR2 type, a distinct skeletal disorder, has deficient canonical FGF signaling. 22387015 2012
BENT BONE DYSPLASIA SYNDROME
CUI: C3281247
Disease: BENT BONE DYSPLASIA SYNDROME
0.800 CausalMutation CLINVAR