Source: ORPHANET

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1
CUI: C0162809
Disease: Kallmann Syndrome
Kallmann Syndrome 		0.600 GermlineCausalMutation ORPHANET A total of 103 patients with either CPHD (n = 35) or SOD (n = 68) were investigated for mutations in genes implicated in the etiology of KS (FGFR1, FGF8, PROKR2, PROK2, and KAL1). 22319038

2012
Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1
CUI: C0162809
Disease: Kallmann Syndrome
Kallmann Syndrome 		0.600 GermlineCausalMutation ORPHANET To address this issue, we studied 2 families, one with Kallmann syndrome (IHH and anosmia) and another with normosmic IHH, in which a single-gene defect had been identified: a heterozygous FGF receptor 1 (FGFR1) mutation in pedigree 1 and a compound heterozygous gonadotropin-releasing hormone receptor (GNRHR) mutation in pedigree 2, both of which varied markedly in expressivity within and across families. 17235395

2007