Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0162809
Disease: Kallmann Syndrome
Kallmann Syndrome
0.600 GeneticVariation disease BEFREE A dominant negative FGFR1 mutation identified in a Kallmann syndrome patient. 28411082 2017
CUI: C0162809
Disease: Kallmann Syndrome
Kallmann Syndrome
0.600 GeneticVariation disease BEFREE These results have implications for the diagnosis, genetic counseling, and treatment of KS and CLP males with mutations in FGFR1 gene. 26199944 2016
CUI: C0162809
Disease: Kallmann Syndrome
Kallmann Syndrome
0.600 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
CUI: C0162809
Disease: Kallmann Syndrome
Kallmann Syndrome
0.600 GeneticVariation disease BEFREE Kallmann syndrome with FGFR1 and KAL1 mutations detected during fetal life. 26051373 2016
CUI: C0162809
Disease: Kallmann Syndrome
Kallmann Syndrome
0.600 Biomarker disease BEFREE In Kallmann syndrome (KS), according to the presence of certain accompanying clinical features, genetic screening for particular gene(s) may be prioritized: synkinesia (KAL1), dental agenesis (FGF8/FGFR1), bony anomalies (FGF8/FGFR1), and hearing loss (CHD7, SOX10). 26680571 2016
CUI: C0162809
Disease: Kallmann Syndrome
Kallmann Syndrome
0.600 GeneticVariation disease BEFREE Childhood growth of females with Kallmann syndrome and FGFR1 mutations. 24841555 2015
CUI: C0162809
Disease: Kallmann Syndrome
Kallmann Syndrome
0.600 GeneticVariation disease BEFREE The aim of this study was to present a case report of a genetic diagnosis of KS linked to the presence of mutations in the FGFR1 (fibroblast growth factor receptor 1, also known as KAL2) gene. 24776628 2014
CUI: C0162809
Disease: Kallmann Syndrome
Kallmann Syndrome
0.600 GeneticVariation disease BEFREE FGFR1 mutations have been identified in both Kallmann syndrome and normosmic HH (nIHH). 23276709 2013
CUI: C0162809
Disease: Kallmann Syndrome
Kallmann Syndrome
0.600 GeneticVariation disease BEFREE Evidence that FGFR1 loss-of-function mutations may cause variable skeletal malformations in patients with Kallmann syndrome. 23154428 2013
CUI: C0162809
Disease: Kallmann Syndrome
Kallmann Syndrome
0.600 GeneticVariation disease BEFREE Diverse mutations in PROKR2, a gene involved both in monogenic recessive and digenic/oligogenic KS transmission modes, were found in 23.3% of the Maghrebian patients, but only in 5.1% of the European patients (Fisher's exact test, P<0.001), whereas mutations in each of the other four KS genes were present either at similar frequencies in the Maghrebian and European patients (KAL1, PROK2, FGF8, from 6.6 to 0.8%; Fisher's exact test, P>0.4 for all comparisons) or at a lower frequency in Maghrebian patients (FGFR1, 5.0 vs 11.7%; Fisher's exact test, P<0.05). 24031091 2013
CUI: C0162809
Disease: Kallmann Syndrome
Kallmann Syndrome
0.600 GeneticVariation disease BEFREE We report a female with combined pituitary hormone deficiencies (GH, TSH, gonadotropin and ACTH), except for prolactin, as a consequence of PROP1 mutation, and a male with KS (anosmia and IHH) due to Kal 2 gene (fibroblast growth factor receptor 1- FGFR1) mutation, both of whom in adulthood presented with prolactinomas. 22801565 2013
CUI: C0162809
Disease: Kallmann Syndrome
Kallmann Syndrome
0.600 GeneticVariation disease BEFREE Gain or loss of function due to missense mutations in FGFR1 is responsible for a variety of disorders including Kallmann syndrome, Apert syndrome, Pfeiffer syndrome, Crouzon syndrome, etc. 23329143 2013
CUI: C0162809
Disease: Kallmann Syndrome
Kallmann Syndrome
0.600 GeneticVariation disease BEFREE The protein anosmin-1, coded by the KAL1 gene responsible for the X-linked form of Kallmann syndrome (KS), exerts its biological effects mainly through the interaction with and signal modulation of fibroblast growth factor receptor 1 (FGFR1). 23189990 2013
CUI: C0162809
Disease: Kallmann Syndrome
Kallmann Syndrome
0.600 Biomarker disease BEFREE 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
CUI: C0162809
Disease: Kallmann Syndrome
Kallmann Syndrome
0.600 Biomarker disease BEFREE The identified deletion included ANK1, but not FGFR1, which is consistent with the absence of any phenotype or laboratory findings of Kallmann syndrome. 22771917 2012
CUI: C0162809
Disease: Kallmann Syndrome
Kallmann Syndrome
0.600 GeneticVariation disease BEFREE A rare variant of necdin (p.V318A) was described in a family with Kallmann syndrome associated with a FGFR1 mutation. 21543378 2011
CUI: C0162809
Disease: Kallmann Syndrome
Kallmann Syndrome
0.600 Biomarker disease BEFREE Novel insights in FGFR1 regulation: lessons from Kallmann syndrome. 20117945 2010
CUI: C0162809
Disease: Kallmann Syndrome
Kallmann Syndrome
0.600 GeneticVariation disease BEFREE Dental agenesis in Kallmann syndrome individuals with FGFR1 mutations. 20536592 2010
CUI: C0162809
Disease: Kallmann Syndrome
Kallmann Syndrome
0.600 GeneticVariation disease BEFREE A case of Kallmann syndrome carrying a missense mutation in alternatively spliced exon 8A encoding the immunoglobulin-like domain IIIb of fibroblast growth factor receptor 1. 20139426 2010
CUI: C0162809
Disease: Kallmann Syndrome
Kallmann Syndrome
0.600 GeneticVariation disease BEFREE FGFR1 mutations in Kallmann syndrome. 20389085 2010
CUI: C0162809
Disease: Kallmann Syndrome
Kallmann Syndrome
0.600 GeneticVariation disease BEFREE FGFR1 mutations have been identified in about 10% of patients with Kallmann syndrome. 19820032 2010
CUI: C0162809
Disease: Kallmann Syndrome
Kallmann Syndrome
0.600 Biomarker disease BEFREE Mutations in three genes--KAL1, GNRHR and FGFR1--account for 15-20% of all causes of IHH/KS. 18463157 2008
CUI: C0162809
Disease: Kallmann Syndrome
Kallmann Syndrome
0.600 Biomarker disease BEFREE Diversity in fibroblast growth factor receptor 1 regulation: learning from the investigation of Kallmann syndrome. 18034870 2008
CUI: C0162809
Disease: Kallmann Syndrome
Kallmann Syndrome
0.600 GeneticVariation disease BEFREE FGFR1 and anosmin-1 underlying genetically distinct forms of Kallmann syndrome are co-expressed and interact in olfactory bulbs. 17186267 2007
CUI: C0162809
Disease: Kallmann Syndrome
Kallmann Syndrome
0.600 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