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: 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: 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: 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: 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: C3494506
Disease: Pseudohypoparathyroidism, Type Ia
Pseudohypoparathyroidism, Type Ia 		0.800 GeneticVariation CLINVAR