rs121913495, GNAS

N. diseases: 28
Disease: Polyostotic fibrous dysplasia ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Polyostotic fibrous dysplasia
CUI: C0016065
Disease: Polyostotic fibrous dysplasia
0.010 GeneticVariation BEFREE McCune-Albright syndrome (MAS) is characterized by the triad of precocious puberty, café au lait pigmentation, and polyostotic fibrous dysplasia (FD) of bone, and is caused by post-zygotic somatic mutations-R201H or R201C-in the guanine nucleotide binding protein, alpha stimulating (GNAS) gene. 29104223 2017