Source: UNIPROT

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121909627
rs121909627
FGFR1
CUI: C0220658
Disease: Pfeiffer Syndrome
Pfeiffer Syndrome 		0.850 GeneticVariation UNIPROT A common mutation in the fibroblast growth factor receptor 1 gene in Pfeiffer syndrome. 7874169

1994
dbSNP: rs779707422
rs779707422
FGFR1
CUI: C0406612
Disease: Encephalocraniocutaneous lipomatosis
Encephalocraniocutaneous lipomatosis 		0.820 GeneticVariation UNIPROT

dbSNP: rs869320694
rs869320694
FGFR1
CUI: C0406612
Disease: Encephalocraniocutaneous lipomatosis
Encephalocraniocutaneous lipomatosis 		0.810 GeneticVariation UNIPROT Using exome sequencing of DNA from multiple affected tissues from five unrelated individuals with ECCL, we identified two mosaic mutations, c.1638C>A (p.Asn546Lys) and c.1966A>G (p.Lys656Glu) within the tyrosine kinase domain of FGFR1, in two affected individuals each. 26942290

2016
dbSNP: rs869320694
rs869320694
FGFR1
CUI: C0406612
Disease: Encephalocraniocutaneous lipomatosis
Encephalocraniocutaneous lipomatosis 		0.810 GeneticVariation UNIPROT The precise sequence of FGF receptor autophosphorylation is kinetically driven and is disrupted by oncogenic mutations. 19224897

2009
dbSNP: rs121909627
rs121909627
FGFR1
CUI: C0795998
Disease: JACKSON-WEISS SYNDROME
JACKSON-WEISS SYNDROME 		0.800 GeneticVariation UNIPROT Clinical findings in a patient with FGFR1 P252R mutation and comparison with the literature. 10861678

2000
dbSNP: rs121909628
rs121909628
FGFR1
CUI: C1563720
Disease: Kallmann Syndrome 2 (disorder)
Kallmann Syndrome 2 (disorder) 		0.800 GeneticVariation UNIPROT Novel FGFR1 mutations in Kallmann syndrome and normosmic idiopathic hypogonadotropic hypogonadism: evidence for the involvement of an alternatively spliced isoform. 26277103

2015
dbSNP: rs121909628
rs121909628
FGFR1
CUI: C1563720
Disease: Kallmann Syndrome 2 (disorder)
Kallmann Syndrome 2 (disorder) 		0.800 GeneticVariation UNIPROT The prevalence of CHD7 missense versus truncating mutations is higher in patients with Kallmann syndrome than in typical CHARGE patients. 25077900

2014
dbSNP: rs121909628
rs121909628
FGFR1
CUI: C1563720
Disease: Kallmann Syndrome 2 (disorder)
Kallmann Syndrome 2 (disorder) 		0.800 GeneticVariation UNIPROT Mutations in FGF17, IL17RD, DUSP6, SPRY4, and FLRT3 are identified in individuals with congenital hypogonadotropic hypogonadism. 23643382

2013
dbSNP: rs121909628
rs121909628
FGFR1
CUI: C1563720
Disease: Kallmann Syndrome 2 (disorder)
Kallmann Syndrome 2 (disorder) 		0.800 GeneticVariation UNIPROT SEMA3A, a gene involved in axonal pathfinding, is mutated in patients with Kallmann syndrome. 22927827

2012
dbSNP: rs121909628
rs121909628
FGFR1
CUI: C1563720
Disease: Kallmann Syndrome 2 (disorder)
Kallmann Syndrome 2 (disorder) 		0.800 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
dbSNP: rs121909628
rs121909628
FGFR1
CUI: C1563720
Disease: Kallmann Syndrome 2 (disorder)
Kallmann Syndrome 2 (disorder) 		0.800 GeneticVariation UNIPROT Impaired fibroblast growth factor receptor 1 signaling as a cause of normosmic idiopathic hypogonadotropic hypogonadism. 19820032

2009
dbSNP: rs121909628
rs121909628
FGFR1
CUI: C1563720
Disease: Kallmann Syndrome 2 (disorder)
Kallmann Syndrome 2 (disorder) 		0.800 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
dbSNP: rs121909628
rs121909628
FGFR1
CUI: C1563720
Disease: Kallmann Syndrome 2 (disorder)
Kallmann Syndrome 2 (disorder) 		0.800 GeneticVariation UNIPROT Novel fibroblast growth factor receptor 1 mutations in patients with congenital hypogonadotropic hypogonadism with and without anosmia. 16882753

2006
dbSNP: rs121909628
rs121909628
FGFR1
CUI: C1563720
Disease: Kallmann Syndrome 2 (disorder)
Kallmann Syndrome 2 (disorder) 		0.800 GeneticVariation UNIPROT Paediatric phenotype of Kallmann syndrome due to mutations of fibroblast growth factor receptor 1 (FGFR1). 16757108

2006
dbSNP: rs121909628
rs121909628
FGFR1
CUI: C1563720
Disease: Kallmann Syndrome 2 (disorder)
Kallmann Syndrome 2 (disorder) 		0.800 GeneticVariation UNIPROT Mutations in fibroblast growth factor receptor 1 cause both Kallmann syndrome and normosmic idiopathic hypogonadotropic hypogonadism. 16606836

2006
dbSNP: rs121909628
rs121909628
FGFR1
CUI: C1563720
Disease: Kallmann Syndrome 2 (disorder)
Kallmann Syndrome 2 (disorder) 		0.800 GeneticVariation UNIPROT Mutations in fibroblast growth factor receptor 1 cause Kallmann syndrome with a wide spectrum of reproductive phenotypes. 16764984

2006
dbSNP: rs121909628
rs121909628
FGFR1
CUI: C1563720
Disease: Kallmann Syndrome 2 (disorder)
Kallmann Syndrome 2 (disorder) 		0.800 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
dbSNP: rs121909628
rs121909628
FGFR1
CUI: C1563720
Disease: Kallmann Syndrome 2 (disorder)
Kallmann Syndrome 2 (disorder) 		0.800 GeneticVariation UNIPROT Kallmann syndrome: 14 novel mutations in KAL1 and FGFR1 (KAL2). 15605412

2005
dbSNP: rs121909628
rs121909628
FGFR1
CUI: C1563720
Disease: Kallmann Syndrome 2 (disorder)
Kallmann Syndrome 2 (disorder) 		0.800 GeneticVariation UNIPROT Clinical assessment and mutation analysis of Kallmann syndrome 1 (KAL1) and fibroblast growth factor receptor 1 (FGFR1, or KAL2) in five families and 18 sporadic patients. 15001591

2004
dbSNP: rs121909628
rs121909628
FGFR1
CUI: C1563720
Disease: Kallmann Syndrome 2 (disorder)
Kallmann Syndrome 2 (disorder) 		0.800 GeneticVariation UNIPROT Loss-of-function mutations in FGFR1 cause autosomal dominant Kallmann syndrome. 12627230

2003
dbSNP: rs121909631
rs121909631
FGFR1
CUI: C0432283
Disease: Osteoglophonic dwarfism
Osteoglophonic dwarfism 		0.800 GeneticVariation UNIPROT Extended mutational analyses of FGFR1 in osteoglophonic dysplasia. 16470795

2006
dbSNP: rs121909631
rs121909631
FGFR1
CUI: C0432283
Disease: Osteoglophonic dwarfism
Osteoglophonic dwarfism 		0.800 GeneticVariation UNIPROT Mutations that cause osteoglophonic dysplasia define novel roles for FGFR1 in bone elongation. 15625620

2005
dbSNP: rs121909632
rs121909632
FGFR1
CUI: C0432283
Disease: Osteoglophonic dwarfism
Osteoglophonic dwarfism 		0.800 GeneticVariation UNIPROT Extended mutational analyses of FGFR1 in osteoglophonic dysplasia. 16470795

2006
dbSNP: rs121909632
rs121909632
FGFR1
CUI: C0432283
Disease: Osteoglophonic dwarfism
Osteoglophonic dwarfism 		0.800 GeneticVariation UNIPROT Mutations that cause osteoglophonic dysplasia define novel roles for FGFR1 in bone elongation. 15625620

2005
dbSNP: rs121909634
rs121909634
FGFR1
CUI: C0432283
Disease: Osteoglophonic dwarfism
Osteoglophonic dwarfism 		0.800 GeneticVariation UNIPROT Extended mutational analyses of FGFR1 in osteoglophonic dysplasia. 16470795

2006