Source: CURATED

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121909627
rs121909627
FGFR1
CUI: C1563720
Disease: Kallmann Syndrome 2 (disorder)
Kallmann Syndrome 2 (disorder) 		C 0.700 CausalMutation CLINVAR Variable expressivity of pfeiffer syndrome in a family with FGFR1 p.Pro252Arg mutation. 25251565

2014
dbSNP: rs121909627
rs121909627
FGFR1
CUI: C1563720
Disease: Kallmann Syndrome 2 (disorder)
Kallmann Syndrome 2 (disorder) 		C 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
dbSNP: rs121909627
rs121909627
FGFR1
CUI: C1563720
Disease: Kallmann Syndrome 2 (disorder)
Kallmann Syndrome 2 (disorder) 		C 0.700 CausalMutation CLINVAR Genotype and clinical care correlations in craniosynostosis: findings from a cohort of 630 Australian and New Zealand patients. 24127277

2013
dbSNP: rs121909627
rs121909627
FGFR1
CUI: C1563720
Disease: Kallmann Syndrome 2 (disorder)
Kallmann Syndrome 2 (disorder) 		C 0.700 CausalMutation CLINVAR FGFR1 Pfeiffer syndrome without craniosynostosis: an additional case report. 16957473

2006
dbSNP: rs121909627
rs121909627
FGFR1
CUI: C1563720
Disease: Kallmann Syndrome 2 (disorder)
Kallmann Syndrome 2 (disorder) 		C 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
dbSNP: rs121909627
rs121909627
FGFR1
CUI: C1563720
Disease: Kallmann Syndrome 2 (disorder)
Kallmann Syndrome 2 (disorder) 		C 0.700 CausalMutation CLINVAR The appearance of the feet in Pfeiffer syndrome caused by FGFR1 P252R mutation. 14564217

2003
dbSNP: rs121909627
rs121909627
FGFR1
CUI: C1563720
Disease: Kallmann Syndrome 2 (disorder)
Kallmann Syndrome 2 (disorder) 		C 0.700 CausalMutation CLINVAR Clinical findings in a patient with FGFR1 P252R mutation and comparison with the literature. 10861678

2000
dbSNP: rs121909627
rs121909627
FGFR1
CUI: C1563720
Disease: Kallmann Syndrome 2 (disorder)
Kallmann Syndrome 2 (disorder) 		C 0.700 CausalMutation CLINVAR A Pro250Arg substitution in mouse Fgfr1 causes increased expression of Cbfa1 and premature fusion of calvarial sutures. 10942429

2000
dbSNP: rs121909627
rs121909627
FGFR1
CUI: C1563720
Disease: Kallmann Syndrome 2 (disorder)
Kallmann Syndrome 2 (disorder) 		C 0.700 CausalMutation CLINVAR Mutations in FGFR1 and FGFR2 cause familial and sporadic Pfeiffer syndrome. 7795583

1995
dbSNP: rs121909627
rs121909627
FGFR1
CUI: C1563720
Disease: Kallmann Syndrome 2 (disorder)
Kallmann Syndrome 2 (disorder) 		C 0.700 CausalMutation CLINVAR A common mutation in the fibroblast growth factor receptor 1 gene in Pfeiffer syndrome. 7874169

1994