FGFR1, fibroblast growth factor receptor 1, 2260

N. diseases: 816; N. variants: 119
Disease: Kallmann Syndrome ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1126485
rs1126485
Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1
CUI: C0162809
Disease:
Kallmann Syndrome 		0.010 GeneticVariation BEFREE A rare variant of necdin (p.V318A) was described in a family with Kallmann syndrome associated with a FGFR1 mutation. 21543378 2011