rs121913495, GNAS

N. diseases: 15
Source: CURATED ×
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 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 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
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
Acth-Independent Macronodular Adrenal Hyperplasia
CUI: C1857451
Disease: Acth-Independent Macronodular Adrenal Hyperplasia
0.800 CausalMutation CLINVAR
Neoplasms
CUI: C0027651
Disease: Neoplasms
0.730 GeneticVariation CLINVAR Prospective enterprise-level molecular genotyping of a cohort of cancer patients. 25157968 2014
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
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
Gastric Adenocarcinoma
CUI: C0278701
Disease: Gastric Adenocarcinoma
0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
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
Adrenocortical carcinoma
CUI: C0206686
Disease: Adrenocortical carcinoma
0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
Adenocarcinoma of pancreas
CUI: C0281361
Disease: Adenocarcinoma of pancreas
0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
Adenocarcinoma of pancreas
CUI: C0281361
Disease: Adenocarcinoma of pancreas
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
Colorectal Neoplasms
CUI: C0009404
Disease: Colorectal Neoplasms
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
Uterine Cervical Neoplasm
CUI: C0007873
Disease: Uterine Cervical Neoplasm
0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
Uterine Cervical Neoplasm
CUI: C0007873
Disease: Uterine Cervical Neoplasm
0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
Cutaneous Melanoma
CUI: C0151779
Disease: Cutaneous Melanoma
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