rs121913495, GNAS

N. diseases: 28
Disease: McCune-Albright Syndrome ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
McCune-Albright Syndrome
CUI: C0242292
Disease: McCune-Albright Syndrome
0.850 GeneticVariation BEFREE Genetic study revealed the mosaic GNAS R201H mutation in the pituitary tissue, confirming a MAS diagnosis. 29984378 2018
McCune-Albright Syndrome
CUI: C0242292
Disease: McCune-Albright Syndrome
0.850 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
McCune-Albright Syndrome
CUI: C0242292
Disease: McCune-Albright Syndrome
0.850 CausalMutation CLINVAR Quantitative and sensitive detection of GNAS mutations causing mccune-albright syndrome with next generation sequencing. 23536913 2013
McCune-Albright Syndrome
CUI: C0242292
Disease: McCune-Albright Syndrome
0.850 GeneticVariation BEFREE Constructs expressing the MAS mutation (R201H), the MAS mutation plus the mutations homologous to the yeast suppressors (R201H, F222P/D223V), or the yeast suppressor mutation alone (F222P/D223V) were transfected into HEK293 cells, and basal and receptor-stimulated cAMP levels were measured. 23288949 2013
McCune-Albright Syndrome
CUI: C0242292
Disease: McCune-Albright Syndrome
0.850 GeneticVariation BEFREE McCune-Albright syndrome (MAS) is caused by mutations in GNAS (most often R201C or R201H) leading to constitutive cAMP signaling and multiple endocrine dysfunctions, including morphological and functional thyroid involvement. 18349068 2008
McCune-Albright Syndrome
CUI: C0242292
Disease: McCune-Albright Syndrome
0.850 GeneticVariation BEFREE Unexpected mosaicism of R201H-GNAS1 mutant-bearing cells in the testes underlie macro-orchidism without sexual precocity in McCune-Albright syndrome. 17101633 2006
McCune-Albright Syndrome
CUI: C0242292
Disease: McCune-Albright Syndrome
0.850 CausalMutation CLINVAR Activating Gsalpha mutations: analysis of 113 patients with signs of McCune-Albright syndrome--a European Collaborative Study. 15126527 2004
McCune-Albright Syndrome
CUI: C0242292
Disease: McCune-Albright Syndrome
0.850 GeneticVariation UNIPROT A novel GNAS1 mutation, R201G, in McCune-albright syndrome. 10571700 1999
McCune-Albright Syndrome
CUI: C0242292
Disease: McCune-Albright Syndrome
0.850 GeneticVariation UNIPROT Overexpression of Gs alpha subunit in thyroid tumors bearing a mutated Gs alpha gene. 7751320 1995
McCune-Albright Syndrome
CUI: C0242292
Disease: McCune-Albright Syndrome
0.850 GeneticVariation UNIPROT Identification of a mutation in the gene encoding the alpha subunit of the stimulatory G protein of adenylyl cyclase in McCune-Albright syndrome. 1594625 1992
McCune-Albright Syndrome
CUI: C0242292
Disease: McCune-Albright Syndrome
0.850 GeneticVariation UNIPROT Activating mutations of the stimulatory G protein in the McCune-Albright syndrome. 1944469 1991
McCune-Albright Syndrome
CUI: C0242292
Disease: McCune-Albright Syndrome
0.850 CausalMutation CLINVAR