rs121909631, FGFR1

N. diseases: 5
Disease: Osteoglophonic dwarfism ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Osteoglophonic dwarfism
CUI: C0432283
Disease: Osteoglophonic dwarfism
0.800 GeneticVariation UNIPROT Extended mutational analyses of FGFR1 in osteoglophonic dysplasia. 16470795 2006
Osteoglophonic dwarfism
CUI: C0432283
Disease: Osteoglophonic dwarfism
0.800 GeneticVariation UNIPROT Mutations that cause osteoglophonic dysplasia define novel roles for FGFR1 in bone elongation. 15625620 2005
Osteoglophonic dwarfism
CUI: C0432283
Disease: Osteoglophonic dwarfism
0.800 CausalMutation CLINVAR