Source: CURATED

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 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 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 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 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
Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1
CUI: C1563720
Disease: Kallmann Syndrome 2 (disorder)
Kallmann Syndrome 2 (disorder) 		0.720 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
Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1
CUI: C1563720
Disease: Kallmann Syndrome 2 (disorder)
Kallmann Syndrome 2 (disorder) 		0.720 GeneticVariation UNIPROT Loss-of-function mutations in FGFR1 cause autosomal dominant Kallmann syndrome. 12627230

2003
Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1
CUI: C1563720
Disease: Kallmann Syndrome 2 (disorder)
Kallmann Syndrome 2 (disorder) 		0.720 Biomarker GENOMICS_ENGLAND Loss-of-function mutations in FGFR1 cause autosomal dominant Kallmann syndrome. 12627230

2003
Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1
CUI: C1563720
Disease: Kallmann Syndrome 2 (disorder)
Kallmann Syndrome 2 (disorder) 		0.720 Biomarker CTD_human

Entrez Id: 3730
Gene Symbol: ANOS1
ANOS1
CUI: C1563720
Disease: Kallmann Syndrome 2 (disorder)
Kallmann Syndrome 2 (disorder) 		0.400 Biomarker CTD_human

Entrez Id: 55636
Gene Symbol: CHD7
CHD7
CUI: C1563720
Disease: Kallmann Syndrome 2 (disorder)
Kallmann Syndrome 2 (disorder) 		0.300 Biomarker CTD_human

Entrez Id: 128674
Gene Symbol: PROKR2
PROKR2
CUI: C1563720
Disease: Kallmann Syndrome 2 (disorder)
Kallmann Syndrome 2 (disorder) 		0.300 Biomarker CTD_human

Entrez Id: 2253
Gene Symbol: FGF8
FGF8
CUI: C1563720
Disease: Kallmann Syndrome 2 (disorder)
Kallmann Syndrome 2 (disorder) 		0.300 Biomarker CTD_human

Entrez Id: 60675
Gene Symbol: PROK2
PROK2
CUI: C1563720
Disease: Kallmann Syndrome 2 (disorder)
Kallmann Syndrome 2 (disorder) 		0.300 Biomarker CTD_human