FGFR1, fibroblast growth factor receptor 1, 2260

N. diseases: 816; N. variants: 119
Disease: Talipes cavus ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0039273
Disease: Talipes cavus
Talipes cavus 		0.110 GeneticVariation disease BEFREE One large heterozygous deletion involving all FGFR1 exons was identified in a female patient with sporadic normosmic hypogonadotropic hypogonadism and mild dimorphisms as ogival palate and cavus foot. 19489874 2010
CUI: C0039273
Disease: Talipes cavus
Talipes cavus 		0.110 Biomarker disease HPO