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: C0242292
Disease: McCune-Albright Syndrome
McCune-Albright Syndrome 		0.800 GeneticVariation UNIPROT Activating mutations of the stimulatory G protein in the McCune-Albright syndrome. 1944469

1991
Entrez Id: 2778
Gene Symbol: GNAS
GNAS
CUI: C0242292
Disease: McCune-Albright Syndrome
McCune-Albright Syndrome 		0.800 GeneticVariation UNIPROT Overexpression of Gs alpha subunit in thyroid tumors bearing a mutated Gs alpha gene. 7751320

1995
Entrez Id: 2778
Gene Symbol: GNAS
GNAS
CUI: C0242292
Disease: McCune-Albright Syndrome
McCune-Albright Syndrome 		0.800 GeneticVariation UNIPROT A novel GNAS1 mutation, R201G, in McCune-albright syndrome. 10571700

1999
Entrez Id: 2778
Gene Symbol: GNAS
GNAS
CUI: C0242292
Disease: McCune-Albright Syndrome
McCune-Albright Syndrome 		0.800 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
Entrez Id: 2778
Gene Symbol: GNAS
GNAS
CUI: C0334041
Disease: Osteoma cutis
Osteoma cutis 		0.800 GeneticVariation UNIPROT With only nine mutations of the GNAS1 gene reported so far in progressive osseous heteroplasia, this new mutation helps to extend further the genotype-phenotype correlation. 14723729

2004
Entrez Id: 2778
Gene Symbol: GNAS
GNAS
CUI: C3494506
Disease: Pseudohypoparathyroidism, Type Ia
Pseudohypoparathyroidism, Type Ia 		0.800 GeneticVariation UNIPROT Pseudohypoparathyroidism, a novel mutation in the betagamma-contact region of Gsalpha impairs receptor stimulation. 8702665

1996
Entrez Id: 2778
Gene Symbol: GNAS
GNAS
CUI: C3494506
Disease: Pseudohypoparathyroidism, Type Ia
Pseudohypoparathyroidism, Type Ia 		0.800 GeneticVariation UNIPROT We set out to identify the parental origin of GNAS1 mutations in patients with AHO by searching for their mutation in the overlapping transcripts. 12624854

2003
Entrez Id: 2778
Gene Symbol: GNAS
GNAS
CUI: C3494506
Disease: Pseudohypoparathyroidism, Type Ia
Pseudohypoparathyroidism, Type Ia 		0.800 GeneticVariation UNIPROT A novel mutation in the switch 3 region of Gsalpha in a patient with Albright hereditary osteodystrophy impairs GDP binding and receptor activation. 9727013

1998
Entrez Id: 2778
Gene Symbol: GNAS
GNAS
CUI: C3494506
Disease: Pseudohypoparathyroidism, Type Ia
Pseudohypoparathyroidism, Type Ia 		0.800 GeneticVariation UNIPROT Pseudohypoparathyroidism type Ia (PHPIa) is caused by GNAS mutations leading to deficiency of the α-subunit of stimulatory G proteins (Gsα) that mediate signal transduction of G protein-coupled receptors via cAMP. 21488135

2011
Entrez Id: 2778
Gene Symbol: GNAS
GNAS
CUI: C3494506
Disease: Pseudohypoparathyroidism, Type Ia
Pseudohypoparathyroidism, Type Ia 		0.800 GeneticVariation UNIPROT Conditional activation defect of a human Gsalpha mutant. 9159128

1997
Entrez Id: 2778
Gene Symbol: GNAS
GNAS
CUI: C3494506
Disease: Pseudohypoparathyroidism, Type Ia
Pseudohypoparathyroidism, Type Ia 		0.800 GeneticVariation UNIPROT Two mutations of the Gsalpha gene in two Japanese patients with sporadic pseudohypoparathyroidism type Ia. 11450852

2001
Entrez Id: 2778
Gene Symbol: GNAS
GNAS
CUI: C3494506
Disease: Pseudohypoparathyroidism, Type Ia
Pseudohypoparathyroidism, Type Ia 		0.800 GeneticVariation UNIPROT We conclude that biochemical and molecular analysis of Gsalpha and its gene GNAS1 can be valuable tools to confirm the diagnosis of AHO. 11600516

2001
Entrez Id: 2778
Gene Symbol: GNAS
GNAS
CUI: C3494506
Disease: Pseudohypoparathyroidism, Type Ia
Pseudohypoparathyroidism, Type Ia 		0.800 GeneticVariation UNIPROT A novel Gs alpha mutant in a patient with Albright hereditary osteodystrophy uncouples cell surface receptors from adenylyl cyclase. 7523385

1994
Entrez Id: 2778
Gene Symbol: GNAS
GNAS
CUI: C3494506
Disease: Pseudohypoparathyroidism, Type Ia
Pseudohypoparathyroidism, Type Ia 		0.800 GeneticVariation UNIPROT Early manifestation of calcinosis cutis in pseudohypoparathyroidism type Ia associated with a novel mutation in the GNAS gene. 15817905

2005
Entrez Id: 2778
Gene Symbol: GNAS
GNAS
CUI: C3494506
Disease: Pseudohypoparathyroidism, Type Ia
Pseudohypoparathyroidism, Type Ia 		0.800 GeneticVariation UNIPROT Heterogeneous mutations in the gene encoding the alpha-subunit of the stimulatory G protein of adenylyl cyclase in Albright hereditary osteodystrophy. 8388883

1993
Entrez Id: 2778
Gene Symbol: GNAS
GNAS
CUI: C3494506
Disease: Pseudohypoparathyroidism, Type Ia
Pseudohypoparathyroidism, Type Ia 		0.800 GeneticVariation UNIPROT 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: C2932716
Disease: Pseudohypoparathyroidism Type 1C
Pseudohypoparathyroidism Type 1C 		0.730 GeneticVariation UNIPROT Functional characterization of GNAS mutations found in patients with pseudohypoparathyroidism type Ic defines a new subgroup of pseudohypoparathyroidism affecting selectively Gsα-receptor interaction. 21488135

2011
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: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.480 GeneticVariation UNIPROT

Entrez Id: 2778
Gene Symbol: GNAS
GNAS
CUI: C3697137
Disease: Fibrous dysplasia of bone with intramuscular myxoma
Fibrous dysplasia of bone with intramuscular myxoma 		0.310 GeneticVariation ORPHANET Mazabraud's syndrome. A case with multiple myxomas. 22609175

2012
Entrez Id: 2778
Gene Symbol: GNAS
GNAS
CUI: C0033835
Disease: Pseudopseudohypoparathyroidism
Pseudopseudohypoparathyroidism 		1.000 Biomarker CTD_human An inherited mutation associated with functional deficiency of the alpha-subunit of the guanine nucleotide-binding protein Gs in pseudo- and pseudopseudohypoparathyroidism. 9506752

1998
Entrez Id: 2778
Gene Symbol: GNAS
GNAS
CUI: C0033835
Disease: Pseudopseudohypoparathyroidism
Pseudopseudohypoparathyroidism 		1.000 Biomarker GENOMICS_ENGLAND

Entrez Id: 2778
Gene Symbol: GNAS
GNAS
CUI: C0242292
Disease: McCune-Albright Syndrome
McCune-Albright Syndrome 		0.800 Biomarker GENOMICS_ENGLAND Thyroid carcinoma in the McCune-Albright syndrome: contributory role of activating Gs alpha mutations. 12970318

2003
Entrez Id: 2778
Gene Symbol: GNAS
GNAS
CUI: C0242292
Disease: McCune-Albright Syndrome
McCune-Albright Syndrome 		0.800 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: C0242292
Disease: McCune-Albright Syndrome
McCune-Albright Syndrome 		0.800 Biomarker CTD_human Update on the etiology, diagnosis and therapeutic management of sexual precocity. 18345393

2008