Source: CLINVAR

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 CausalMutation CLINVAR Molecular diagnostic experience of whole-exome sequencing in adult patients. 26633545

2016
Entrez Id: 2778
Gene Symbol: GNAS
GNAS
CUI: C0033835
Disease: Pseudopseudohypoparathyroidism
Pseudopseudohypoparathyroidism 		1.000 CausalMutation CLINVAR A positive genotype-phenotype correlation in a large cohort of patients with Pseudohypoparathyroidism Type Ia and Pseudo-pseudohypoparathyroidism and 33 newly identified mutations in the GNAS gene. 25802881

2015
Entrez Id: 2778
Gene Symbol: GNAS
GNAS
CUI: C0033835
Disease: Pseudopseudohypoparathyroidism
Pseudopseudohypoparathyroidism 		1.000 CausalMutation CLINVAR Endocrine profile and phenotype-(epi)genotype correlation in Spanish patients with pseudohypoparathyroidism. 23533243

2013
Entrez Id: 2778
Gene Symbol: GNAS
GNAS
CUI: C0033835
Disease: Pseudopseudohypoparathyroidism
Pseudopseudohypoparathyroidism 		1.000 CausalMutation CLINVAR Increased prevalence of carpal tunnel syndrome in albright hereditary osteodystrophy. 21525160

2011
Entrez Id: 2778
Gene Symbol: GNAS
GNAS
CUI: C0033835
Disease: Pseudopseudohypoparathyroidism
Pseudopseudohypoparathyroidism 		1.000 CausalMutation CLINVAR Deficiency of the alpha-subunit of the stimulatory G protein and severe extraskeletal ossification. 11092390

2000
Entrez Id: 2778
Gene Symbol: GNAS
GNAS
CUI: C0033835
Disease: Pseudopseudohypoparathyroidism
Pseudopseudohypoparathyroidism 		1.000 CausalMutation CLINVAR 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: C0033835
Disease: Pseudopseudohypoparathyroidism
Pseudopseudohypoparathyroidism 		1.000 GeneticVariation CLINVAR

Entrez Id: 2778
Gene Symbol: GNAS
GNAS
CUI: C3494506
Disease: Pseudohypoparathyroidism, Type Ia
Pseudohypoparathyroidism, Type Ia 		0.800 CausalMutation CLINVAR Molecular diagnostic experience of whole-exome sequencing in adult patients. 26633545

2016
Entrez Id: 2778
Gene Symbol: GNAS
GNAS
CUI: C0334041
Disease: Osteoma cutis
Osteoma cutis 		0.800 CausalMutation CLINVAR GNAS mutations in Pseudohypoparathyroidism type 1a and related disorders. 25219572

2015
Entrez Id: 2778
Gene Symbol: GNAS
GNAS
CUI: C3494506
Disease: Pseudohypoparathyroidism, Type Ia
Pseudohypoparathyroidism, Type Ia 		0.800 CausalMutation CLINVAR A positive genotype-phenotype correlation in a large cohort of patients with Pseudohypoparathyroidism Type Ia and Pseudo-pseudohypoparathyroidism and 33 newly identified mutations in the GNAS gene. 25802881

2015
Entrez Id: 2778
Gene Symbol: GNAS
GNAS
CUI: C0242292
Disease: McCune-Albright Syndrome
McCune-Albright Syndrome 		0.800 CausalMutation CLINVAR Quantitative and sensitive detection of GNAS mutations causing mccune-albright syndrome with next generation sequencing. 23536913

2013
Entrez Id: 2778
Gene Symbol: GNAS
GNAS
CUI: C0334041
Disease: Osteoma cutis
Osteoma cutis 		0.800 CausalMutation CLINVAR Screening for GNAS genetic and epigenetic alterations in progressive osseous heteroplasia: first Italian series. 23796510

2013
Entrez Id: 2778
Gene Symbol: GNAS
GNAS
CUI: C3494506
Disease: Pseudohypoparathyroidism, Type Ia
Pseudohypoparathyroidism, Type Ia 		0.800 CausalMutation CLINVAR Endocrine profile and phenotype-(epi)genotype correlation in Spanish patients with pseudohypoparathyroidism. 23533243

2013
Entrez Id: 2778
Gene Symbol: GNAS
GNAS
CUI: C3494506
Disease: Pseudohypoparathyroidism, Type Ia
Pseudohypoparathyroidism, Type Ia 		0.800 CausalMutation CLINVAR Increased prevalence of carpal tunnel syndrome in albright hereditary osteodystrophy. 21525160

2011
Entrez Id: 2778
Gene Symbol: GNAS
GNAS
CUI: C0242292
Disease: McCune-Albright Syndrome
McCune-Albright Syndrome 		0.800 CausalMutation CLINVAR A sensitive mutation-specific screening technique for GNAS1 mutations in cases of fibrous dysplasia: the first report of a codon 227 mutation in bone. 17493233

2007
Entrez Id: 2778
Gene Symbol: GNAS
GNAS
CUI: C0242292
Disease: McCune-Albright Syndrome
McCune-Albright Syndrome 		0.800 CausalMutation CLINVAR Activating Gsalpha mutations: analysis of 113 patients with signs of McCune-Albright syndrome--a European Collaborative Study. 15126527

2004
Entrez Id: 2778
Gene Symbol: GNAS
GNAS
CUI: C0242292
Disease: McCune-Albright Syndrome
McCune-Albright Syndrome 		0.800 GeneticVariation CLINVAR Selective resistance to parathyroid hormone caused by a novel uncoupling mutation in the carboxyl terminus of G alpha(s). A cause of pseudohypoparathyroidism type Ib. 11029463

2001
Entrez Id: 2778
Gene Symbol: GNAS
GNAS
CUI: C3494506
Disease: Pseudohypoparathyroidism, Type Ia
Pseudohypoparathyroidism, Type Ia 		0.800 CausalMutation CLINVAR Deficiency of the alpha-subunit of the stimulatory G protein and severe extraskeletal ossification. 11092390

2000
Entrez Id: 2778
Gene Symbol: GNAS
GNAS
CUI: C0242292
Disease: McCune-Albright Syndrome
McCune-Albright Syndrome 		0.800 GeneticVariation CLINVAR Clinical implications of genetic defects in G proteins. The molecular basis of McCune-Albright syndrome and Albright hereditary osteodystrophy. 8699958

1996
Entrez Id: 2778
Gene Symbol: GNAS
GNAS
CUI: C1864100
Disease: PSEUDOHYPOPARATHYROIDISM, TYPE IB
PSEUDOHYPOPARATHYROIDISM, TYPE IB 		0.800 CausalMutation CLINVAR

Entrez Id: 2778
Gene Symbol: GNAS
GNAS
CUI: C3494506
Disease: Pseudohypoparathyroidism, Type Ia
Pseudohypoparathyroidism, Type Ia 		0.800 GeneticVariation CLINVAR

Entrez Id: 2778
Gene Symbol: GNAS
GNAS
CUI: C2932716
Disease: Pseudohypoparathyroidism Type 1C
Pseudohypoparathyroidism Type 1C 		0.730 CausalMutation CLINVAR

Entrez Id: 2778
Gene Symbol: GNAS
GNAS
CUI: C2932716
Disease: Pseudohypoparathyroidism Type 1C
Pseudohypoparathyroidism Type 1C 		0.730 GeneticVariation CLINVAR

Entrez Id: 2778
Gene Symbol: GNAS
GNAS
CUI: C1857451
Disease: Acth-Independent Macronodular Adrenal Hyperplasia
Acth-Independent Macronodular Adrenal Hyperplasia 		0.700 CausalMutation CLINVAR

Entrez Id: 2778
Gene Symbol: GNAS
GNAS
CUI: C0028754
Disease: Obesity
Obesity 		0.490 CausalMutation CLINVAR