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: C3494506
Disease: Pseudohypoparathyroidism, Type Ia
Pseudohypoparathyroidism, Type Ia 		0.800 Biomarker GENOMICS_ENGLAND Similarly, impressive early weight gains were noted in five patients, who initially lacked additional Albright hereditary osteodystrophy features but in whom PHP1A due to GNAS mutations involving exons encoding Gsα was diagnosed. 28453643

2017
Entrez Id: 2778
Gene Symbol: GNAS
GNAS
CUI: C3494506
Disease: Pseudohypoparathyroidism, Type Ia
Pseudohypoparathyroidism, Type Ia 		0.800 Biomarker GENOMICS_ENGLAND A novel mutation in a case of pseudohypoparathyroidism type Ia. 27922245

2016
Entrez Id: 2778
Gene Symbol: GNAS
GNAS
CUI: C3494506
Disease: Pseudohypoparathyroidism, Type Ia
Pseudohypoparathyroidism, Type Ia 		0.800 Biomarker GENOMICS_ENGLAND Pediatric Cranial Vault Fractures: Analysis of Demographics, Injury Patterns, and Factors Predictive of Mortality. 26267576

2015
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 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: C3494506
Disease: Pseudohypoparathyroidism, Type Ia
Pseudohypoparathyroidism, Type Ia 		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: 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 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 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 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 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: 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 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: 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: 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 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 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 GermlineCausalMutation ORPHANET