Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Idiopathic hypogonadotropic hypogonadism
0.500 GeneticVariation disease BEFREE Novel FGFR1 mutations in Kallmann syndrome and normosmic idiopathic hypogonadotropic hypogonadism: evidence for the involvement of an alternatively spliced isoform. 26277103 2016
Idiopathic hypogonadotropic hypogonadism
0.500 GeneticVariation disease CLINVAR A shared genetic basis for self-limited delayed puberty and idiopathic hypogonadotropic hypogonadism. 25636053 2015
Idiopathic hypogonadotropic hypogonadism
0.500 Biomarker disease BEFREE Six of the twelve subjects had an identified genetic cause of their IHH: KAL1 (n = 1), FGFR1 (n = 3), PROKR2 (n = 1), GNRHR (n = 1). 25226293 2015
Idiopathic hypogonadotropic hypogonadism
0.500 GeneticVariation disease BEFREE Although mutations in the fibroblast growth factor receptor 1 (FGFR1) gene have been implicated in the development of IHH, KS, and SOD, the relevance of FGFR1 abnormalities to CPHD remains to be elucidated. 23657145 2014
Idiopathic hypogonadotropic hypogonadism
0.500 GeneticVariation disease BEFREE Comparative functional analysis of two fibroblast growth factor receptor 1 (FGFR1) mutations affecting the same residue (R254W and R254Q) in isolated hypogonadotropic hypogonadism (IHH). 23276709 2013
Idiopathic hypogonadotropic hypogonadism
0.500 GeneticVariation disease BEFREE These results support the hypothesis that IHH/KS patients with digenic mutations in Fgfr1/Fgf8 may have a further reduction in the GnRH neuronal population compared to patients harbouring monogenic haploid mutations in Fgfr1 or Fgf8. 20553372 2010
Idiopathic hypogonadotropic hypogonadism
0.500 GeneticVariation disease BEFREE FGFR1 mutations cause isolated hypogonadotropic hypogonadism (IHH) with or without olfactory abnormalities, Kallmann syndrome, and normosmic IHH respectively. 20463092 2010
Idiopathic hypogonadotropic hypogonadism
0.500 GeneticVariation disease BEFREE Loss-of-function mutations in FGFR1 underlie 7% of nIHH with different degrees of impairment in vitro. 19820032 2010
Idiopathic hypogonadotropic hypogonadism
0.500 GeneticVariation disease BEFREE To describe a mother with idiopathic hypogonadotropic hypogonadism (IHH) and her monozygotic (MZ) twin boys who all have the same heterozygous fibroblast growth factor receptor-1 (FGFR1) gene mutation. 20079901 2010
Idiopathic hypogonadotropic hypogonadism
0.500 GeneticVariation disease BEFREE Certain genes, including PROK2 and FGFR1, are associated with both anosmic and normosmic IHH. 19707180 2009
Idiopathic hypogonadotropic hypogonadism
0.500 GeneticVariation disease BEFREE Mutations in three genes--KAL1, GNRHR and FGFR1--account for 15-20% of all causes of IHH/KS. 18463157 2008
Idiopathic hypogonadotropic hypogonadism
0.500 Biomarker disease BEFREE Most causative genes cause either normosmic IHH or KS except FGFR1, which may cause either phenotype. 18253056 2008
Idiopathic hypogonadotropic hypogonadism
0.500 GeneticVariation disease BEFREE Our findings indicate that mutations in the FGFR1 gene can cause normosmic, fully penetrant, complete IHH with little or no variable expressivity, and without the other FGFR1-associated anomalies typically found in KS. 17200176 2007
Idiopathic hypogonadotropic hypogonadism
0.500 Biomarker disease GENOMICS_ENGLAND Digenic mutations account for variable phenotypes in idiopathic hypogonadotropic hypogonadism. 17235395 2007
Idiopathic hypogonadotropic hypogonadism
0.500 GeneticVariation disease BEFREE 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
Idiopathic hypogonadotropic hypogonadism
0.500 GeneticVariation disease BEFREE In addition, we found an even wider spectrum of reproductive function within pedigrees carrying an FGFR1 mutation ranging from IHH to delayed puberty to normal reproductive function (anosmia only or asymptomatic carriers). 16764984 2006
Idiopathic hypogonadotropic hypogonadism
0.500 GeneticVariation disease BEFREE FGFR1 mutations were identified in 17% of the patients with olfactory abnormalities and in one of 34 normosmic IHH patients. 16882753 2006
Idiopathic hypogonadotropic hypogonadism
0.500 GeneticVariation disease BEFREE Mutations in fibroblast growth factor receptor 1 cause both Kallmann syndrome and normosmic idiopathic hypogonadotropic hypogonadism. 16606836 2006
Idiopathic hypogonadotropic hypogonadism
0.500 Biomarker disease GENOMICS_ENGLAND Loss-of-function mutations in FGFR1 cause autosomal dominant Kallmann syndrome. 12627230 2003