FGFR1, fibroblast growth factor receptor 1, 2260

N. diseases: 816; N. variants: 119
Disease: Pfeiffer Syndrome ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1554570706
rs1554570706
Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1
CUI: C0220658
Disease:
Pfeiffer Syndrome 		A 0.700 GeneticVariation CLINVAR KLB, encoding β-Klotho, is mutated in patients with congenital hypogonadotropic hypogonadism. 28754744 2017
dbSNP: rs1554570706
rs1554570706
Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1
CUI: C0220658
Disease:
Pfeiffer Syndrome 		A 0.700 GeneticVariation CLINVAR Mutations in fibroblast growth factor receptor 1 cause Kallmann syndrome with a wide spectrum of reproductive phenotypes. 16764984 2006