FGFR3, fibroblast growth factor receptor 3, 2261

N. diseases: 654; N. variants: 55
Disease: Rhizomelia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1866730
Disease: Rhizomelia
Rhizomelia 		0.110 GeneticVariation disease BEFREE The most frequent type of rhizomelic dwarfism, achondroplasia (ACH), is caused by mutations in the fibroblast growth factor receptor 3 (FGFR3) gene. 17561467 2007
CUI: C1866730
Disease: Rhizomelia
Rhizomelia 		0.110 Biomarker disease HPO