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: C0220658
Disease: Pfeiffer Syndrome
Pfeiffer Syndrome
0.900 GeneticVariation CLINVAR KLB, encoding β-Klotho, is mutated in patients with congenital hypogonadotropic hypogonadism. 28754744

2017

Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1
CUI: C0220658
Disease: Pfeiffer Syndrome
Pfeiffer Syndrome
0.900 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: C0220658
Disease: Pfeiffer Syndrome
Pfeiffer Syndrome
0.900 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: C0220658
Disease: Pfeiffer Syndrome
Pfeiffer Syndrome
0.900 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: C0220658
Disease: Pfeiffer Syndrome
Pfeiffer Syndrome
0.900 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: C0220658
Disease: Pfeiffer Syndrome
Pfeiffer Syndrome
0.900 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: C0220658
Disease: Pfeiffer Syndrome
Pfeiffer Syndrome
0.900 CausalMutation CLINVAR FGFR1 Pfeiffer syndrome without craniosynostosis: an additional case report. 16957473

2006

Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1
CUI: C0220658
Disease: Pfeiffer Syndrome
Pfeiffer Syndrome
0.900 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: C0220658
Disease: Pfeiffer Syndrome
Pfeiffer Syndrome
0.900 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: C0220658
Disease: Pfeiffer Syndrome
Pfeiffer Syndrome
0.900 CausalMutation CLINVAR Loss-of-function mutations in FGFR1 cause autosomal dominant Kallmann syndrome. 12627230

2003

Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1
CUI: C0220658
Disease: Pfeiffer Syndrome
Pfeiffer Syndrome
0.900 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: C0220658
Disease: Pfeiffer Syndrome
Pfeiffer Syndrome
0.900 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: C0220658
Disease: Pfeiffer Syndrome
Pfeiffer Syndrome
0.900 CausalMutation CLINVAR Mutations in FGFR1 and FGFR2 cause familial and sporadic Pfeiffer syndrome. 7795583

1995

Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1
CUI: C0220658
Disease: Pfeiffer Syndrome
Pfeiffer Syndrome
0.900 CausalMutation CLINVAR Here we present evidence that mutations in the fibroblast growth factor receptor-1 (FGFR1) gene, which maps to 8p, cause one form of familial Pfeiffer syndrome. 7874169

1994

Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1
Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip-Palate
0.750 CausalMutation CLINVAR In this report, we describe two siblings with Hartsfield syndrome and a novel de novo FGFR1 mutation suggesting gonadal mosaicism. 24888332

2014

Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1
Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip-Palate
0.750 CausalMutation CLINVAR Dominant or recessive FGFR1 mutations are responsible for Hartsfield syndrome, consistent with the known roles of FGFR1 in vertebrate ontogeny and conditional Fgfr1-deficient mice. 23812909

2013

Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1
Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip-Palate
0.750 GeneticVariation CLINVAR

Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1
Encephalocraniocutaneous lipomatosis
0.740 CausalMutation CLINVAR

Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1
Encephalocraniocutaneous lipomatosis
0.740 GeneticVariation CLINVAR

Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1
CUI: C0432283
Disease: Osteoglophonic dwarfism
Osteoglophonic dwarfism
0.730 CausalMutation CLINVAR

Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1
CUI: C0432283
Disease: Osteoglophonic dwarfism
Osteoglophonic dwarfism
0.730 GeneticVariation CLINVAR

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 CausalMutation CLINVAR Variable expressivity of pfeiffer syndrome in a family with FGFR1 p.Pro252Arg mutation. 25251565

2014