Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1 		0.720 GeneticVariation disease CLINVAR Hypogonadotropic Hypogonadism due to Novel FGFR1 Mutations. 28008864 2017
Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1 		0.720 GeneticVariation disease CLINVAR KLB, encoding β-Klotho, is mutated in patients with congenital hypogonadotropic hypogonadism. 28754744 2017
Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1 		0.720 CausalMutation disease 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 		0.720 Biomarker disease 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 		0.720 Biomarker disease GENOMICS_ENGLAND FGFR1 and PROKR2 rare variants found in patients with combined pituitary hormone deficiencies. 25759380 2015
Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1 		0.720 GeneticVariation disease 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 		0.720 GeneticVariation disease 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 		0.720 CausalMutation disease CLINVAR Variable expressivity of pfeiffer syndrome in a family with FGFR1 p.Pro252Arg mutation. 25251565 2014
Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1 		0.720 Biomarker disease GENOMICS_ENGLAND FGFR1 mutations cause Hartsfield syndrome, the unique association of holoprosencephaly and ectrodactyly. 23812909 2013
Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1 		0.720 GeneticVariation disease 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 		0.720 CausalMutation disease 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 		0.720 CausalMutation disease 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 		0.720 CausalMutation disease CLINVAR Congenital hypogonadotropic hypogonadism during childhood: presentation and genetic analyses in 46 boys. 24204987 2013
Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1 		0.720 GeneticVariation disease UNIPROT SEMA3A, a gene involved in axonal pathfinding, is mutated in patients with Kallmann syndrome. 22927827 2012
Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1 		0.720 GeneticVariation disease 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 		0.720 GeneticVariation disease 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 		0.720 GeneticVariation disease 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 		0.720 GeneticVariation disease 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 		0.720 GeneticVariation disease 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 		0.720 GeneticVariation disease 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 		0.720 GeneticVariation disease 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 		0.720 CausalMutation disease CLINVAR FGFR1 Pfeiffer syndrome without craniosynostosis: an additional case report. 16957473 2006
Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1 		0.720 GeneticVariation disease 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 		0.720 GeneticVariation disease UNIPROT Kallmann syndrome: 14 novel mutations in KAL1 and FGFR1 (KAL2). 15605412 2005
Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1 		0.720 GeneticVariation disease 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