FGFR1, fibroblast growth factor receptor 1, 2260

N. diseases: 816; N. variants: 119
Disease: Sense of smell impaired ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2364082
Disease: Sense of smell impaired
Sense of smell impaired 		0.110 CausalMutation phenotype CLINVAR Congenital hypogonadotropic hypogonadism during childhood: presentation and genetic analyses in 46 boys. 24204987 2013
CUI: C2364082
Disease: Sense of smell impaired
Sense of smell impaired 		0.110 GeneticVariation phenotype BEFREE Heterozygous FGFR1 mutations were found in three of seven unrelated nIHH probands with normal MRI of the olfactory system: (i) G237S in an nIHH female and a KS brother; (ii) (P722H and N724K) in an nIHH male missing two teeth and his mother with isolated hyposmia; and (iii) Q680X in a nIHH male with cleft lip/palate and missing teeth, his brother with nIHH, and his father with delayed puberty. 16606836 2006
CUI: C2364082
Disease: Sense of smell impaired
Sense of smell impaired 		0.110 Biomarker phenotype HPO