Source: ALL

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1
CUI: C1563720
Disease: Kallmann Syndrome 2 (disorder)
Kallmann Syndrome 2 (disorder) 		0.720 GeneticVariation CLINVAR Hypogonadotropic Hypogonadism due to Novel FGFR1 Mutations. 28008864

2017
Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1
CUI: C1563720
Disease: Kallmann Syndrome 2 (disorder)
Kallmann Syndrome 2 (disorder) 		0.720 GeneticVariation CLINVAR KLB, encoding β-Klotho, is mutated in patients with congenital hypogonadotropic hypogonadism. 28754744

2017
Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1
CUI: C1563720
Disease: Kallmann Syndrome 2 (disorder)
Kallmann Syndrome 2 (disorder) 		0.720 CausalMutation CLINVAR Targeted next generation sequencing approach identifies eighteen new candidate genes in normosmic hypogonadotropic hypogonadism and Kallmann syndrome. 27502037

2016
Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1
CUI: C1563720
Disease: Kallmann Syndrome 2 (disorder)
Kallmann Syndrome 2 (disorder) 		0.720 Biomarker GENOMICS_ENGLAND Congenital hypogonadotropic hypogonadism with split hand/foot malformation: a clinical entity with a high frequency of FGFR1 mutations. 25394172

2015
Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1
CUI: C1563720
Disease: Kallmann Syndrome 2 (disorder)
Kallmann Syndrome 2 (disorder) 		0.720 Biomarker GENOMICS_ENGLAND FGFR1 and PROKR2 rare variants found in patients with combined pituitary hormone deficiencies. 25759380

2015
Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1
CUI: C1563720
Disease: Kallmann Syndrome 2 (disorder)
Kallmann Syndrome 2 (disorder) 		0.720 GeneticVariation UNIPROT Novel FGFR1 mutations in Kallmann syndrome and normosmic idiopathic hypogonadotropic hypogonadism: evidence for the involvement of an alternatively spliced isoform. 26277103

2015
Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1
CUI: C1563720
Disease: Kallmann Syndrome 2 (disorder)
Kallmann Syndrome 2 (disorder) 		0.720 GeneticVariation UNIPROT The prevalence of CHD7 missense versus truncating mutations is higher in patients with Kallmann syndrome than in typical CHARGE patients. 25077900

2014
Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1
CUI: C1563720
Disease: Kallmann Syndrome 2 (disorder)
Kallmann Syndrome 2 (disorder) 		0.720 CausalMutation CLINVAR Variable expressivity of pfeiffer syndrome in a family with FGFR1 p.Pro252Arg mutation. 25251565

2014
Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1
CUI: C1563720
Disease: Kallmann Syndrome 2 (disorder)
Kallmann Syndrome 2 (disorder) 		0.720 Biomarker GENOMICS_ENGLAND FGFR1 mutations cause Hartsfield syndrome, the unique association of holoprosencephaly and ectrodactyly. 23812909

2013
Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1
CUI: C1563720
Disease: Kallmann Syndrome 2 (disorder)
Kallmann Syndrome 2 (disorder) 		0.720 GeneticVariation UNIPROT Mutations in FGF17, IL17RD, DUSP6, SPRY4, and FLRT3 are identified in individuals with congenital hypogonadotropic hypogonadism. 23643382

2013
Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1
CUI: C1563720
Disease: Kallmann Syndrome 2 (disorder)
Kallmann Syndrome 2 (disorder) 		0.720 CausalMutation CLINVAR Mutational identification of fibroblast growth factor receptor 1 and fibroblast growth factor receptor 2 genes in craniosynostosis in Indian population. 24497711

2013
Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1
CUI: C1563720
Disease: Kallmann Syndrome 2 (disorder)
Kallmann Syndrome 2 (disorder) 		0.720 CausalMutation CLINVAR Genotype and clinical care correlations in craniosynostosis: findings from a cohort of 630 Australian and New Zealand patients. 24127277

2013
Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1
CUI: C1563720
Disease: Kallmann Syndrome 2 (disorder)
Kallmann Syndrome 2 (disorder) 		0.720 CausalMutation CLINVAR Congenital hypogonadotropic hypogonadism during childhood: presentation and genetic analyses in 46 boys. 24204987

2013
Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1
CUI: C1563720
Disease: Kallmann Syndrome 2 (disorder)
Kallmann Syndrome 2 (disorder) 		0.720 GeneticVariation UNIPROT SEMA3A, a gene involved in axonal pathfinding, is mutated in patients with Kallmann syndrome. 22927827

2012
Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1
CUI: C1563720
Disease: Kallmann Syndrome 2 (disorder)
Kallmann Syndrome 2 (disorder) 		0.720 GeneticVariation UNIPROT Heparan sulfate 6-O-sulfotransferase 1, a gene involved in extracellular sugar modifications, is mutated in patients with idiopathic hypogonadotrophic hypogonadism. 21700882

2011
Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1
CUI: C1563720
Disease: Kallmann Syndrome 2 (disorder)
Kallmann Syndrome 2 (disorder) 		0.720 GeneticVariation UNIPROT Impaired fibroblast growth factor receptor 1 signaling as a cause of normosmic idiopathic hypogonadotropic hypogonadism. 19820032

2009
Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1
CUI: C1563720
Disease: Kallmann Syndrome 2 (disorder)
Kallmann Syndrome 2 (disorder) 		0.720 GeneticVariation UNIPROT Novel FGFR1 sequence variants in Kallmann syndrome, and genetic evidence that the FGFR1c isoform is required in olfactory bulb and palate morphogenesis. 17154279

2007
Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1
CUI: C1563720
Disease: Kallmann Syndrome 2 (disorder)
Kallmann Syndrome 2 (disorder) 		0.720 GeneticVariation UNIPROT Mutations in fibroblast growth factor receptor 1 cause Kallmann syndrome with a wide spectrum of reproductive phenotypes. 16764984

2006
Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1
CUI: C1563720
Disease: Kallmann Syndrome 2 (disorder)
Kallmann Syndrome 2 (disorder) 		0.720 GeneticVariation UNIPROT Mutations in fibroblast growth factor receptor 1 cause both Kallmann syndrome and normosmic idiopathic hypogonadotropic hypogonadism. 16606836

2006
Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1
CUI: C1563720
Disease: Kallmann Syndrome 2 (disorder)
Kallmann Syndrome 2 (disorder) 		0.720 GeneticVariation UNIPROT Paediatric phenotype of Kallmann syndrome due to mutations of fibroblast growth factor receptor 1 (FGFR1). 16757108

2006
Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1
CUI: C1563720
Disease: Kallmann Syndrome 2 (disorder)
Kallmann Syndrome 2 (disorder) 		0.720 GeneticVariation CLINVAR Mutations in fibroblast growth factor receptor 1 cause Kallmann syndrome with a wide spectrum of reproductive phenotypes. 16764984

2006
Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1
CUI: C1563720
Disease: Kallmann Syndrome 2 (disorder)
Kallmann Syndrome 2 (disorder) 		0.720 CausalMutation CLINVAR FGFR1 Pfeiffer syndrome without craniosynostosis: an additional case report. 16957473

2006
Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1
CUI: C1563720
Disease: Kallmann Syndrome 2 (disorder)
Kallmann Syndrome 2 (disorder) 		0.720 GeneticVariation UNIPROT Novel fibroblast growth factor receptor 1 mutations in patients with congenital hypogonadotropic hypogonadism with and without anosmia. 16882753

2006
Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1
CUI: C1563720
Disease: Kallmann Syndrome 2 (disorder)
Kallmann Syndrome 2 (disorder) 		0.720 GeneticVariation UNIPROT Kallmann syndrome: 14 novel mutations in KAL1 and FGFR1 (KAL2). 15605412

2005
Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1
CUI: C1563720
Disease: Kallmann Syndrome 2 (disorder)
Kallmann Syndrome 2 (disorder) 		0.720 GeneticVariation UNIPROT Gonadotrophin therapy in Kallmann syndrome caused by heterozygous mutations of the gene for fibroblast growth factor receptor 1: report of three families: case report. 15845591

2005