rs121909627, FGFR1

N. diseases: 8
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Pfeiffer Syndrome
CUI: C0220658
Disease: Pfeiffer Syndrome
0.850 CausalMutation CLINVAR Genotype and clinical care correlations in craniosynostosis: findings from a cohort of 630 Australian and New Zealand patients. 24127277 2013
Pfeiffer Syndrome
CUI: C0220658
Disease: Pfeiffer Syndrome
0.850 CausalMutation CLINVAR However, unlike the Apert syndrome Pro253Arg FGFR2c mutant, neither the Pfeiffer syndrome Pro250Arg FGFR1c mutant nor the Muenke syndrome Pro250Arg FGFR3c mutant bound appreciably to FGF7 or FGF10. 14613973 2004
JACKSON-WEISS SYNDROME
CUI: C0795998
Disease: JACKSON-WEISS SYNDROME
0.800 CausalMutation CLINVAR
Kallmann Syndrome 2 (disorder)
CUI: C1563720
Disease: Kallmann Syndrome 2 (disorder)
0.700 CausalMutation CLINVAR Clinical findings in a patient with FGFR1 P252R mutation and comparison with the literature. 10861678 2000
Kallmann Syndrome 2 (disorder)
CUI: C1563720
Disease: Kallmann Syndrome 2 (disorder)
0.700 CausalMutation CLINVAR A Pro250Arg substitution in mouse Fgfr1 causes increased expression of Cbfa1 and premature fusion of calvarial sutures. 10942429 2000
Kallmann Syndrome 2 (disorder)
CUI: C1563720
Disease: Kallmann Syndrome 2 (disorder)
0.700 CausalMutation CLINVAR The appearance of the feet in Pfeiffer syndrome caused by FGFR1 P252R mutation. 14564217 2003
Kallmann Syndrome 2 (disorder)
CUI: C1563720
Disease: Kallmann Syndrome 2 (disorder)
0.700 CausalMutation CLINVAR Mutational identification of fibroblast growth factor receptor 1 and fibroblast growth factor receptor 2 genes in craniosynostosis in Indian population. 24497711 2013
Kallmann Syndrome 2 (disorder)
CUI: C1563720
Disease: Kallmann Syndrome 2 (disorder)
0.700 CausalMutation CLINVAR Variable expressivity of pfeiffer syndrome in a family with FGFR1 p.Pro252Arg mutation. 25251565 2014
Kallmann Syndrome 2 (disorder)
CUI: C1563720
Disease: Kallmann Syndrome 2 (disorder)
0.700 CausalMutation CLINVAR A common mutation in the fibroblast growth factor receptor 1 gene in Pfeiffer syndrome. 7874169 1994
Kallmann Syndrome 2 (disorder)
CUI: C1563720
Disease: Kallmann Syndrome 2 (disorder)
0.700 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
Kallmann Syndrome 2 (disorder)
CUI: C1563720
Disease: Kallmann Syndrome 2 (disorder)
0.700 CausalMutation CLINVAR Mutations in FGFR1 and FGFR2 cause familial and sporadic Pfeiffer syndrome. 7795583 1995
Kallmann Syndrome 2 (disorder)
CUI: C1563720
Disease: Kallmann Syndrome 2 (disorder)
0.700 CausalMutation CLINVAR FGFR1 Pfeiffer syndrome without craniosynostosis: an additional case report. 16957473 2006
Kallmann Syndrome 2 (disorder)
CUI: C1563720
Disease: Kallmann Syndrome 2 (disorder)
0.700 CausalMutation CLINVAR Genotype and clinical care correlations in craniosynostosis: findings from a cohort of 630 Australian and New Zealand patients. 24127277 2013