rs121913495, GNAS

N. diseases: 28
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 CausalMutation CLINVAR
Acth-Independent Macronodular Adrenal Hyperplasia
CUI: C1857451
Disease: Acth-Independent Macronodular Adrenal Hyperplasia
0.800 CausalMutation CLINVAR
Sex Cord-Stromal Tumor
CUI: C0206724
Disease: Sex Cord-Stromal Tumor
0.700 CausalMutation CLINVAR
PITUITARY ADENOMA 3, MULTIPLE TYPES
CUI: C4540135
Disease: PITUITARY ADENOMA 3, MULTIPLE TYPES
0.700 CausalMutation CLINVAR
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 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 A novel GNAS1 mutation, R201G, in McCune-albright syndrome. 10571700 1999
Acth-Independent Macronodular Adrenal Hyperplasia
CUI: C1857451
Disease: Acth-Independent Macronodular Adrenal Hyperplasia
0.800 GeneticVariation UNIPROT Cushing's syndrome secondary to adrenocorticotropin-independent macronodular adrenocortical hyperplasia due to activating mutations of GNAS1 gene. 12727968 2003
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 BEFREE Unexpected mosaicism of R201H-GNAS1 mutant-bearing cells in the testes underlie macro-orchidism without sexual precocity in McCune-Albright syndrome. 17101633 2006
Precocious Puberty
CUI: C0034013
Disease: Precocious Puberty
0.010 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
Cryptogenic sexual precocity
CUI: C0271527
Disease: Cryptogenic sexual precocity
0.010 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 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
Neoplasms
CUI: C0027651
Disease: Neoplasms
0.730 GeneticVariation BEFREE Molecular screening failed to find mutations in RAS, TP53, and BRAF hot spots, whereas Arg201His mutation in GNAS gene (gsp oncogene), absent in the previous surgical materials, was detected in the tumor from the last surgery, which was found to be monoclonal. 19890024 2010
Neoplasms
CUI: C0027651
Disease: Neoplasms
0.730 GeneticVariation CLINVAR GNAS-activating mutations define a rare subgroup of inflammatory liver tumors characterized by STAT3 activation. 21835143 2012
Neoplasms
CUI: C0027651
Disease: Neoplasms
0.730 GeneticVariation CLINVAR GNAS-activating mutations define a rare subgroup of inflammatory liver tumors characterized by STAT3 activation. 21835143 2012
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
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
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 An R201H mutation was detected in this case, thus confirming a diagnosis of fibrous dysplasia. 23503642 2013
ANOPHTHALMIA AND PULMONARY HYPOPLASIA
CUI: C1832661
Disease: ANOPHTHALMIA AND PULMONARY HYPOPLASIA
0.010 GeneticVariation BEFREE However, the R201H GNAS mutation was detected in 1 intestinal-type IPMN with distinct PDAC. 23532108 2013
Pancreatic Intraductal Papillary Mucinous Neoplasm
CUI: C4511687
Disease: Pancreatic Intraductal Papillary Mucinous Neoplasm
0.010 GeneticVariation BEFREE However, the R201H GNAS mutation was detected in 1 intestinal-type IPMN with distinct PDAC. 23532108 2013
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
Neoplasms
CUI: C0027651
Disease: Neoplasms
0.730 GeneticVariation BEFREE To ascertain the frequency in colon cancer we employed a sensitive pyrosequencing platform for mutation detection of the R201C and R201H GNAS hotspots in tumor samples representing all clinical stages. 24498230 2014