FGFR1, fibroblast growth factor receptor 1, 2260

N. diseases: 816; N. variants: 119
Disease: Delayed Puberty ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0034012
Disease: Delayed Puberty
Delayed Puberty 		0.110 GeneticVariation phenotype LHGDN Reversible kallmann syndrome, delayed puberty, and isolated anosmia occurring in a single family with a mutation in the fibroblast growth factor receptor 1 gene. 15613419 2005
CUI: C0034012
Disease: Delayed Puberty
Delayed Puberty 		0.110 GeneticVariation phenotype CLINVAR
CUI: C0034012
Disease: Delayed Puberty
Delayed Puberty 		0.110 Biomarker phenotype HPO