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 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 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 GeneticVariation UNIPROT A novel GNAS1 mutation, R201G, in McCune-albright syndrome. 10571700 1999
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 Activating mutations of the stimulatory G protein in the McCune-Albright syndrome. 1944469 1991
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
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
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
Anaplasia
CUI: C0002793
Disease: Anaplasia
0.010 GeneticVariation BEFREE Direct sequencing of 9 parosteal osteosarcomas, including 3 of low grade and 6 with dedifferentiation, revealed activating GNAS mutations in 5 cases (55%), distributed as 4 R201C-mutated tumors and 1 tumor with an R201H mutation. 24525511 2014
Neoplasms
CUI: C0027651
Disease: Neoplasms
0.730 GeneticVariation BEFREE Direct sequencing of 9 parosteal osteosarcomas, including 3 of low grade and 6 with dedifferentiation, revealed activating GNAS mutations in 5 cases (55%), distributed as 4 R201C-mutated tumors and 1 tumor with an R201H mutation. 24525511 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
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
Intraductal papillary mucinous neoplasm
CUI: C3160815
Disease: Intraductal papillary mucinous neoplasm
0.010 GeneticVariation BEFREE GNAS(R201H) and Kras(G12D) cooperate to promote murine pancreatic tumorigenesis recapitulating human intraductal papillary mucinous neoplasm. 26257060 2016
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
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
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
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
Squamous cell carcinoma of the head and neck
CUI: C1168401
Disease: Squamous cell carcinoma of the head and neck
0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
Liver carcinoma
CUI: C2239176
Disease: Liver carcinoma
0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
Mammary Neoplasms
CUI: C1458155
Disease: Mammary Neoplasms
0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016