FGFR2, fibroblast growth factor receptor 2, 2263

N. diseases: 731; N. variants: 141
Disease: Bent bone dysplasia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0432238
Disease: Bent bone dysplasia
Bent bone dysplasia 		0.030 Biomarker disease BEFREE Description of these patients expands the prenatal and postnatal findings of Bent Bone Dysplasia-FGFR2 type and adds to the phenotypic spectrum among all FGFR2 disorders. 27240702 2016
CUI: C0432238
Disease: Bent bone dysplasia
Bent bone dysplasia 		0.030 GeneticVariation disease BEFREE Bent bone dysplasia (BBD)-FGFR2 type: the radiologic manifestations in early gestation. 26446305 2016
CUI: C0432238
Disease: Bent bone dysplasia
Bent bone dysplasia 		0.030 Biomarker disease BEFREE Bent bone dysplasia-FGFR2 type, a distinct skeletal disorder, has deficient canonical FGF signaling. 22387015 2012