Source: ALL

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C3281247
Disease: BENT BONE DYSPLASIA SYNDROME
BENT BONE DYSPLASIA SYNDROME 		0.730 Biomarker BEFREE Our results indicate that the bent long bones in BBDS arise from disruptions in musculoskeletal integration and that increased nuclear and nucleolar localization of FGFR2 plays a mechanistic role in the disease phenotype.248:233-246, 2019. 30620790

2019
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C3281247
Disease: BENT BONE DYSPLASIA SYNDROME
BENT BONE DYSPLASIA SYNDROME 		0.730 GeneticVariation BEFREE Inhibition of p53 in cells expressing the FGFR2 mutations in BBDS rescues delayed osteoblast differentiation, suggesting that p53 activation is an essential pathogenic factor in, and potential therapeutic target for, BBDS. 28595297

2017
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C3281247
Disease: BENT BONE DYSPLASIA SYNDROME
BENT BONE DYSPLASIA SYNDROME 		0.730 Biomarker GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308

2016
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C3281247
Disease: BENT BONE DYSPLASIA SYNDROME
BENT BONE DYSPLASIA SYNDROME 		0.730 AlteredExpression BEFREE An increase in the nucleolar activity of FGFR2 in BBDS elevates levels of ribosomal RNA in the developing bone, consequently promoting osteoprogenitor cell proliferation and decreasing differentiation. 24908667

2014
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C3281247
Disease: BENT BONE DYSPLASIA SYNDROME
BENT BONE DYSPLASIA SYNDROME 		0.730 GermlineCausalMutation ORPHANET Bent bone dysplasia-FGFR2 type, a distinct skeletal disorder, has deficient canonical FGF signaling. 22387015

2012
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C3281247
Disease: BENT BONE DYSPLASIA SYNDROME
BENT BONE DYSPLASIA SYNDROME 		0.730 GeneticVariation UNIPROT Bent bone dysplasia-FGFR2 type, a distinct skeletal disorder, has deficient canonical FGF signaling. 22387015

2012
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C3281247
Disease: BENT BONE DYSPLASIA SYNDROME
BENT BONE DYSPLASIA SYNDROME 		0.730 Biomarker GENOMICS_ENGLAND Mutations in different components of FGF signaling in LADD syndrome. 16501574

2006
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C3281247
Disease: BENT BONE DYSPLASIA SYNDROME
BENT BONE DYSPLASIA SYNDROME 		0.730 Biomarker CTD_human

Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C3281247
Disease: BENT BONE DYSPLASIA SYNDROME
BENT BONE DYSPLASIA SYNDROME 		0.730 GeneticVariation CLINVAR

Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C3281247
Disease: BENT BONE DYSPLASIA SYNDROME
BENT BONE DYSPLASIA SYNDROME 		0.730 CausalMutation CLINVAR