rs121913495, GNAS

N. diseases: 28
Disease: Fibrous Dysplasia ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Fibrous Dysplasia
CUI: C0259779
Disease: Fibrous Dysplasia
0.050 GeneticVariation BEFREE The lesions were tested for the R201H mutation in the GNAS gene, which is present in fibrous dysplasia. 25118809 2014
Fibrous Dysplasia
CUI: C0259779
Disease: Fibrous Dysplasia
0.050 GeneticVariation BEFREE Eleven of 14 (79%) FD cases had GNAS mutations within codon 201 (5 R201C and 6 R201H mutations). 24525511 2014
Fibrous Dysplasia
CUI: C0259779
Disease: Fibrous Dysplasia
0.050 GeneticVariation BEFREE An R201H mutation was detected in this case, thus confirming a diagnosis of fibrous dysplasia. 23503642 2013
Fibrous Dysplasia
CUI: C0259779
Disease: Fibrous Dysplasia
0.050 GeneticVariation BEFREE Twenty-three cases of fibrous dysplasia (45%) showed mutations of codon 201 (exon 8, p.R201H or p.R201C). 23370769 2013
Fibrous Dysplasia
CUI: C0259779
Disease: Fibrous Dysplasia
0.050 GeneticVariation BEFREE Two cell models, BMSCs treated with excess exogenous cAMP and BMSCs infected with lentivirus GNAS R201H, were established to model the pathological conditions of FD and used to investigate its pathogenesis. 22450860 2012