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: 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 GermlineCausalMutation ORPHANET

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
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 Biomarker GENOMICS_ENGLAND 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 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: C0242292
Disease: McCune-Albright Syndrome
McCune-Albright Syndrome 		0.800 Biomarker GENOMICS_ENGLAND

Entrez Id: 2778
Gene Symbol: GNAS
GNAS
CUI: C0242292
Disease: McCune-Albright Syndrome
McCune-Albright Syndrome 		0.800 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: C0242292
Disease: McCune-Albright Syndrome
McCune-Albright Syndrome 		0.800 SomaticCausalMutation ORPHANET 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 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 SomaticCausalMutation ORPHANET 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 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: C0334041
Disease: Osteoma cutis
Osteoma cutis 		0.800 GermlineCausalMutation ORPHANET We present an unusual case of a boy with clinical features of both POH and PHP Ia, and a GNAS inactivating mutation. 17321228

2007
Entrez Id: 2778
Gene Symbol: GNAS
GNAS
CUI: C0334041
Disease: Osteoma cutis
Osteoma cutis 		0.800 GermlineCausalMutation ORPHANET 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: C0334041
Disease: Osteoma cutis
Osteoma cutis 		0.800 GermlineCausalMutation ORPHANET Paternal origin of GNAS mutations was clearly demonstrated in eight POH cases including one patient with mutation in exon 1. 20427508

2010
Entrez Id: 2778
Gene Symbol: GNAS
GNAS
CUI: C0334041
Disease: Osteoma cutis
Osteoma cutis 		0.800 Biomarker CTD_human

Entrez Id: 2778
Gene Symbol: GNAS
GNAS
CUI: C0334041
Disease: Osteoma cutis
Osteoma cutis 		0.800 Biomarker GENOMICS_ENGLAND

Entrez Id: 2778
Gene Symbol: GNAS
GNAS
CUI: C1864100
Disease: PSEUDOHYPOPARATHYROIDISM, TYPE IB
PSEUDOHYPOPARATHYROIDISM, TYPE IB 		0.800 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: C1864100
Disease: PSEUDOHYPOPARATHYROIDISM, TYPE IB
PSEUDOHYPOPARATHYROIDISM, TYPE IB 		0.800 Biomarker CTD_human A disruptive mutation in exon 3 of the GNAS gene with albright hereditary osteodystrophy, normocalcemic pseudohypoparathyroidism, and selective long transcript variant Gsalpha-L deficiency. 17299070

2007
Entrez Id: 2778
Gene Symbol: GNAS
GNAS
CUI: C1864100
Disease: PSEUDOHYPOPARATHYROIDISM, TYPE IB
PSEUDOHYPOPARATHYROIDISM, TYPE IB 		0.800 GermlineCausalMutation ORPHANET