Source: INFERRED

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 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 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 CausalMutation CLINVAR Proline to arginine mutations in FGF receptors 1 and 3 result in Pfeiffer and Muenke craniosynostosis syndromes through enhancement of FGF binding affinity. 14613973

2004
Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1
CUI: C1563720
Disease: Kallmann Syndrome 2 (disorder)
Kallmann Syndrome 2 (disorder) 		0.720 CausalMutation CLINVAR The appearance of the feet in Pfeiffer syndrome caused by FGFR1 P252R mutation. 14564217

2003
Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1
CUI: C1563720
Disease: Kallmann Syndrome 2 (disorder)
Kallmann Syndrome 2 (disorder) 		0.720 CausalMutation CLINVAR 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 CausalMutation CLINVAR A Pro250Arg substitution in mouse Fgfr1 causes increased expression of Cbfa1 and premature fusion of calvarial sutures. 10942429

2000
Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1
CUI: C1563720
Disease: Kallmann Syndrome 2 (disorder)
Kallmann Syndrome 2 (disorder) 		0.720 CausalMutation CLINVAR Clinical findings in a patient with FGFR1 P252R mutation and comparison with the literature. 10861678

2000
Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1
CUI: C1563720
Disease: Kallmann Syndrome 2 (disorder)
Kallmann Syndrome 2 (disorder) 		0.720 CausalMutation CLINVAR Mutations in FGFR1 and FGFR2 cause familial and sporadic Pfeiffer syndrome. 7795583

1995
Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1
CUI: C1563720
Disease: Kallmann Syndrome 2 (disorder)
Kallmann Syndrome 2 (disorder) 		0.720 CausalMutation CLINVAR A common mutation in the fibroblast growth factor receptor 1 gene in Pfeiffer syndrome. 7874169

1994
Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1
CUI: C1563720
Disease: Kallmann Syndrome 2 (disorder)
Kallmann Syndrome 2 (disorder) 		0.720 SusceptibilityMutation CLINVAR

Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1
CUI: C0795998
Disease: JACKSON-WEISS SYNDROME
JACKSON-WEISS SYNDROME 		0.710 GeneticVariation CLINVAR

Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1
CUI: C0795998
Disease: JACKSON-WEISS SYNDROME
JACKSON-WEISS SYNDROME 		0.710 CausalMutation CLINVAR

Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis 		0.700 Biomarker HPO

Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1
CUI: C0265535
Disease: Trigonocephaly
Trigonocephaly 		0.640 Biomarker HPO

Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1
CUI: C0011581
Disease: Depressive disorder
Depressive disorder 		0.620 Biomarker HPO

Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1
CUI: C0432122
Disease: Interfrontal craniofaciosynostosis
Interfrontal craniofaciosynostosis 		0.610 GeneticVariation CLINVAR

Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1
CUI: C0342384
Disease: Idiopathic hypogonadotropic hypogonadism
Idiopathic hypogonadotropic hypogonadism 		0.500 CausalMutation CLINVAR Congenital hypogonadotropic hypogonadism during childhood: presentation and genetic analyses in 46 boys. 24204987

2013
Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1
CUI: C0342384
Disease: Idiopathic hypogonadotropic hypogonadism
Idiopathic hypogonadotropic hypogonadism 		0.500 GeneticVariation CLINVAR

Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1
CUI: C0008925
Disease: Cleft Palate
Cleft Palate 		0.450 GeneticVariation GWASCAT Genome-wide analyses of non-syndromic cleft lip with palate identify 14 novel loci and genetic heterogeneity. 28232668

2017
Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1
CUI: C0004114
Disease: Astrocytoma
Astrocytoma 		0.450 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1
CUI: C0008925
Disease: Cleft Palate
Cleft Palate 		0.450 Biomarker HPO

Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1
CUI: C0008924
Disease: Cleft upper lip
Cleft upper lip 		0.430 GeneticVariation GWASCAT Genome-wide analyses of non-syndromic cleft lip with palate identify 14 novel loci and genetic heterogeneity. 28232668

2017