FGFR1, fibroblast growth factor receptor 1, 2260

N. diseases: 330; N. variants: 67
Source: INFERRED ×
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0220658
Disease: Pfeiffer Syndrome
Pfeiffer Syndrome 		0.900 GeneticVariation disease CLINVAR KLB, encoding β-Klotho, is mutated in patients with congenital hypogonadotropic hypogonadism. 28754744 2017
CUI: C0220658
Disease: Pfeiffer Syndrome
Pfeiffer Syndrome 		0.900 CausalMutation disease CLINVAR Targeted next generation sequencing approach identifies eighteen new candidate genes in normosmic hypogonadotropic hypogonadism and Kallmann syndrome. 27502037 2016
CUI: C0220658
Disease: Pfeiffer Syndrome
Pfeiffer Syndrome 		0.900 CausalMutation disease CLINVAR Variable expressivity of pfeiffer syndrome in a family with FGFR1 p.Pro252Arg mutation. 25251565 2014
CUI: C0220658
Disease: Pfeiffer Syndrome
Pfeiffer Syndrome 		0.900 CausalMutation disease CLINVAR Genotype and clinical care correlations in craniosynostosis: findings from a cohort of 630 Australian and New Zealand patients. 24127277 2013
CUI: C0220658
Disease: Pfeiffer Syndrome
Pfeiffer Syndrome 		0.900 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
CUI: C0220658
Disease: Pfeiffer Syndrome
Pfeiffer Syndrome 		0.900 GeneticVariation disease CLINVAR Mutations in fibroblast growth factor receptor 1 cause Kallmann syndrome with a wide spectrum of reproductive phenotypes. 16764984 2006
CUI: C0220658
Disease: Pfeiffer Syndrome
Pfeiffer Syndrome 		0.900 CausalMutation disease CLINVAR FGFR1 Pfeiffer syndrome without craniosynostosis: an additional case report. 16957473 2006
CUI: C0220658
Disease: Pfeiffer Syndrome
Pfeiffer Syndrome 		0.900 CausalMutation disease 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
CUI: C0220658
Disease: Pfeiffer Syndrome
Pfeiffer Syndrome 		0.900 CausalMutation disease CLINVAR The appearance of the feet in Pfeiffer syndrome caused by FGFR1 P252R mutation. 14564217 2003
CUI: C0220658
Disease: Pfeiffer Syndrome
Pfeiffer Syndrome 		0.900 CausalMutation disease CLINVAR Loss-of-function mutations in FGFR1 cause autosomal dominant Kallmann syndrome. 12627230 2003
CUI: C0220658
Disease: Pfeiffer Syndrome
Pfeiffer Syndrome 		0.900 CausalMutation disease CLINVAR A Pro250Arg substitution in mouse Fgfr1 causes increased expression of Cbfa1 and premature fusion of calvarial sutures. 10942429 2000
CUI: C0220658
Disease: Pfeiffer Syndrome
Pfeiffer Syndrome 		0.900 CausalMutation disease CLINVAR Clinical findings in a patient with FGFR1 P252R mutation and comparison with the literature. 10861678 2000
CUI: C0220658
Disease: Pfeiffer Syndrome
Pfeiffer Syndrome 		0.900 CausalMutation disease CLINVAR Mutations in FGFR1 and FGFR2 cause familial and sporadic Pfeiffer syndrome. 7795583 1995
CUI: C0220658
Disease: Pfeiffer Syndrome
Pfeiffer Syndrome 		0.900 CausalMutation disease 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
CUI: C1845146
Disease: Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip-Palate
Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip-Palate 		0.750 CausalMutation disease CLINVAR In this report, we describe two siblings with Hartsfield syndrome and a novel de novo FGFR1 mutation suggesting gonadal mosaicism. 24888332 2014
CUI: C1845146
Disease: Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip-Palate
Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip-Palate 		0.750 CausalMutation disease 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
CUI: C1845146
Disease: Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip-Palate
Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip-Palate 		0.750 GeneticVariation disease CLINVAR
CUI: C0406612
Disease: Encephalocraniocutaneous lipomatosis
Encephalocraniocutaneous lipomatosis 		0.740 CausalMutation disease CLINVAR
CUI: C0406612
Disease: Encephalocraniocutaneous lipomatosis
Encephalocraniocutaneous lipomatosis 		0.740 GeneticVariation disease CLINVAR
CUI: C0432283
Disease: Osteoglophonic dwarfism
Osteoglophonic dwarfism 		0.730 CausalMutation disease CLINVAR
CUI: C0432283
Disease: Osteoglophonic dwarfism
Osteoglophonic dwarfism 		0.730 GeneticVariation disease CLINVAR
CUI: C1563720
Disease: Kallmann Syndrome 2 (disorder)
Kallmann Syndrome 2 (disorder) 		0.720 GeneticVariation disease CLINVAR Hypogonadotropic Hypogonadism due to Novel FGFR1 Mutations. 28008864 2017
CUI: C1563720
Disease: Kallmann Syndrome 2 (disorder)
Kallmann Syndrome 2 (disorder) 		0.720 GeneticVariation disease CLINVAR KLB, encoding β-Klotho, is mutated in patients with congenital hypogonadotropic hypogonadism. 28754744 2017
CUI: C1563720
Disease: Kallmann Syndrome 2 (disorder)
Kallmann Syndrome 2 (disorder) 		0.720 CausalMutation disease CLINVAR Targeted next generation sequencing approach identifies eighteen new candidate genes in normosmic hypogonadotropic hypogonadism and Kallmann syndrome. 27502037 2016
CUI: C1563720
Disease: Kallmann Syndrome 2 (disorder)
Kallmann Syndrome 2 (disorder) 		0.720 CausalMutation disease CLINVAR Variable expressivity of pfeiffer syndrome in a family with FGFR1 p.Pro252Arg mutation. 25251565 2014