Source: CURATED

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2778
Gene Symbol: GNAS
GNAS
CUI: C0001206
Disease: Acromegaly
Acromegaly 		0.350 Biomarker CTD_human Imprinting of the G(s)alpha gene GNAS1 in the pathogenesis of acromegaly. 11254676

2001
Entrez Id: 2778
Gene Symbol: GNAS
GNAS
CUI: C1857451
Disease: Acth-Independent Macronodular Adrenal Hyperplasia
Acth-Independent Macronodular Adrenal Hyperplasia 		0.700 SomaticCausalMutation ORPHANET Cushing's syndrome secondary to adrenocorticotropin-independent macronodular adrenocortical hyperplasia due to activating mutations of GNAS1 gene. 12727968

2003
Entrez Id: 2778
Gene Symbol: GNAS
GNAS
CUI: C1857451
Disease: Acth-Independent Macronodular Adrenal Hyperplasia
Acth-Independent Macronodular Adrenal Hyperplasia 		0.700 Biomarker CTD_human

Entrez Id: 2778
Gene Symbol: GNAS
GNAS
CUI: C1857451
Disease: Acth-Independent Macronodular Adrenal Hyperplasia
Acth-Independent Macronodular Adrenal Hyperplasia 		0.700 GeneticVariation UNIPROT Cushing's syndrome secondary to adrenocorticotropin-independent macronodular adrenocortical hyperplasia due to activating mutations of GNAS1 gene. 12727968

2003
Entrez Id: 2778
Gene Symbol: GNAS
GNAS
CUI: C1857451
Disease: Acth-Independent Macronodular Adrenal Hyperplasia
Acth-Independent Macronodular Adrenal Hyperplasia 		0.700 Biomarker GENOMICS_ENGLAND A novel mutation adjacent to the switch III domain of G(S alpha) in a patient with pseudohypoparathyroidism. 9328353

1997
Entrez Id: 2778
Gene Symbol: GNAS
GNAS
CUI: C0750887
Disease: Adrenal Cancer
Adrenal Cancer 		0.300 Biomarker CTD_human Recurrent activating mutation in PRKACA in cortisol-producing adrenal tumors. 24747643

2014
Entrez Id: 2778
Gene Symbol: GNAS
GNAS
CUI: C0001624
Disease: Adrenal Gland Neoplasms
Adrenal Gland Neoplasms 		0.310 Biomarker CTD_human Recurrent activating mutation in PRKACA in cortisol-producing adrenal tumors. 24747643

2014
Entrez Id: 2778
Gene Symbol: GNAS
GNAS
CUI: C2931404
Disease: Albright's hereditary osteodystrophy
Albright's hereditary osteodystrophy 		0.800 Biomarker CTD_human Heterozygous inactivating maternally inherited mutations of GNAS lead to a phenotype in which Albright hereditary osteodystrophy is associated with pseudohypoparathyroidism type Ia. 17299070

2007
Entrez Id: 2778
Gene Symbol: GNAS
GNAS
CUI: C2931404
Disease: Albright's hereditary osteodystrophy
Albright's hereditary osteodystrophy 		0.800 Biomarker CTD_human Mutation in the gene encoding the stimulatory G protein of adenylate cyclase in Albright's hereditary osteodystrophy. 2109828

1990
Entrez Id: 2778
Gene Symbol: GNAS
GNAS
CUI: C2931404
Disease: Albright's hereditary osteodystrophy
Albright's hereditary osteodystrophy 		0.800 Biomarker GENOMICS_ENGLAND

Entrez Id: 2778
Gene Symbol: GNAS
GNAS
CUI: C2931404
Disease: Albright's hereditary osteodystrophy
Albright's hereditary osteodystrophy 		0.800 Biomarker CTD_human Mutations of the Gs alpha-subunit gene in Albright hereditary osteodystrophy detected by denaturing gradient gel electrophoresis. 2122458

1990
Entrez Id: 2778
Gene Symbol: GNAS
GNAS
CUI: C2931404
Disease: Albright's hereditary osteodystrophy
Albright's hereditary osteodystrophy 		0.800 Biomarker CTD_human A new heterozygous mutation (D196N) in the Gs alpha gene as a cause for pseudohypoparathyroidism type IA in a boy who had gallstones. 21823526

2011
Entrez Id: 2778
Gene Symbol: GNAS
GNAS
CUI: C0003129
Disease: Anoxemia
Anoxemia 		0.300 Biomarker CTD_human Differentiation in neuroblastoma: diffusion-limited hypoxia induces neuro-endocrine secretory protein 55 and other markers of a chromaffin phenotype. 20862257

2010
Entrez Id: 2778
Gene Symbol: GNAS
GNAS
CUI: C0003130
Disease: Anoxia
Anoxia 		0.300 Biomarker CTD_human In experimental and clinical neuroblastoma NESP55 immunoreactivity was specific for regions of chronic hypoxia. 20862257

2010
Entrez Id: 2778
Gene Symbol: GNAS
GNAS
CUI: C0242216
Disease: Biliary calculi
Biliary calculi 		0.300 Biomarker CTD_human A new heterozygous mutation (D196N) in the Gs alpha gene as a cause for pseudohypoparathyroidism type IA in a boy who had gallstones. 21823526

2011
Entrez Id: 2778
Gene Symbol: GNAS
GNAS
CUI: C0221357
Disease: Brachydactyly
Brachydactyly 		0.450 Biomarker CTD_human Functional polymorphisms in the paternally expressed XLalphas and its cofactor ALEX decrease their mutual interaction and enhance receptor-mediated cAMP formation. 12719376

2003
Entrez Id: 2778
Gene Symbol: GNAS
GNAS
CUI: C0221263
Disease: Cafe-au-Lait Spots
Cafe-au-Lait Spots 		0.300 Biomarker CTD_human Activating mutations of the stimulatory G protein in the McCune-Albright syndrome. 1944469

1991
Entrez Id: 2778
Gene Symbol: GNAS
GNAS
CUI: C0221263
Disease: Cafe-au-Lait Spots
Cafe-au-Lait Spots 		0.300 Biomarker CTD_human 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
Entrez Id: 2778
Gene Symbol: GNAS
GNAS
CUI: C0342543
Disease: Central Precocious Puberty
Central Precocious Puberty 		0.300 Biomarker CTD_human 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
Entrez Id: 2778
Gene Symbol: GNAS
GNAS
CUI: C0342543
Disease: Central Precocious Puberty
Central Precocious Puberty 		0.300 Biomarker CTD_human Activating mutations of the stimulatory G protein in the McCune-Albright syndrome. 1944469

1991
Entrez Id: 2778
Gene Symbol: GNAS
GNAS
CUI: C0206698
Disease: Cholangiocarcinoma
Cholangiocarcinoma 		0.310 Biomarker CTD_human Exome sequencing of liver fluke-associated cholangiocarcinoma. 22561520

2012
Entrez Id: 2778
Gene Symbol: GNAS
GNAS
CUI: C0008370
Disease: Cholestasis
Cholestasis 		0.300 Biomarker GENOMICS_ENGLAND Demonstration of McCune-Albright mutations in the liver of children with high gammaGT progressive cholestasis. 10673080

2000
Entrez Id: 2778
Gene Symbol: GNAS
GNAS
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.480 GeneticVariation UNIPROT

Entrez Id: 2778
Gene Symbol: GNAS
GNAS
CUI: C0009438
Disease: Common Bile Duct Calculi
Common Bile Duct Calculi 		0.300 Biomarker CTD_human A new heterozygous mutation (D196N) in the Gs alpha gene as a cause for pseudohypoparathyroidism type IA in a boy who had gallstones. 21823526

2011
Entrez Id: 2778
Gene Symbol: GNAS
GNAS
CUI: C0271527
Disease: Cryptogenic sexual precocity
Cryptogenic sexual precocity 		0.310 Biomarker CTD_human Activating mutations of the stimulatory G protein in the McCune-Albright syndrome. 1944469

1991