GNAS, GNAS complex locus, 2778

N. diseases: 536; N. variants: 61
Disease: Pseudohypoparathyroidism, Type Ia ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1159063042
rs1159063042
Entrez Id: 2778
Gene Symbol: GNAS
GNAS
CUI: C3494506
Disease:
Pseudohypoparathyroidism, Type Ia 		0.010 GeneticVariation BEFREE In contrast, PHPIa associated p.L388P disrupted both receptor-mediated activation and receptor-independent activation. 21488135 2011
dbSNP: rs1356899544
rs1356899544
Entrez Id: 2778
Gene Symbol: GNAS
GNAS
CUI: C3494506
Disease:
Pseudohypoparathyroidism, Type Ia 		0.010 GeneticVariation BEFREE In contrast, PHPIa associated p.L388P disrupted both receptor-mediated activation and receptor-independent activation. 21488135 2011
dbSNP: rs371055001
rs371055001
Entrez Id: 2778;149775
Gene Symbol: GNAS;GNAS-AS1
GNAS;GNAS-AS1
CUI: C3494506
Disease:
Pseudohypoparathyroidism, Type Ia 		0.010 GeneticVariation BEFREE 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
dbSNP: rs750103665
rs750103665
Entrez Id: 2778
Gene Symbol: GNAS
GNAS
CUI: C3494506
Disease:
Pseudohypoparathyroidism, Type Ia 		0.010 GeneticVariation BEFREE Sequencing analysis of the GNAS gene identified a heterozygous missense mutation in exon 13 (R385H), which was previously reported in a PHP-Ia patient. 18250541 2008
dbSNP: rs893327176
rs893327176
Entrez Id: 2778
Gene Symbol: GNAS
GNAS
CUI: C3494506
Disease:
Pseudohypoparathyroidism, Type Ia 		0.010 GeneticVariation BEFREE Genetic testing showed GNAS mutation in exon 12 [c.1024C>T (R342X)].Patient had POH and PHP Ia. 25894639 2015
dbSNP: rs137854531
rs137854531
Entrez Id: 2778
Gene Symbol: GNAS
GNAS
CUI: C3494506
Disease:
Pseudohypoparathyroidism, Type Ia 		C 0.800 CausalMutation CLINVAR
dbSNP: rs137854532
rs137854532
Entrez Id: 2778
Gene Symbol: GNAS
GNAS
CUI: C3494506
Disease:
Pseudohypoparathyroidism, Type Ia 		T 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
dbSNP: rs137854534
rs137854534
Entrez Id: 2778
Gene Symbol: GNAS
GNAS
CUI: C3494506
Disease:
Pseudohypoparathyroidism, Type Ia 		G 0.800 CausalMutation CLINVAR
dbSNP: rs137854538
rs137854538
Entrez Id: 2778
Gene Symbol: GNAS
GNAS
CUI: C3494506
Disease:
Pseudohypoparathyroidism, Type Ia 		A 0.800 CausalMutation CLINVAR
dbSNP: rs137854539
rs137854539
Entrez Id: 2778
Gene Symbol: GNAS
GNAS
CUI: C3494506
Disease:
Pseudohypoparathyroidism, Type Ia 		T 0.800 GeneticVariation CLINVAR
dbSNP: rs137854539
rs137854539
Entrez Id: 2778
Gene Symbol: GNAS
GNAS
CUI: C3494506
Disease:
Pseudohypoparathyroidism, Type Ia 		T 0.800 CausalMutation CLINVAR
dbSNP: rs1057518907
rs1057518907
Entrez Id: 2778
Gene Symbol: GNAS
GNAS
CUI: C3494506
Disease:
Pseudohypoparathyroidism, Type Ia 		T 0.700 CausalMutation CLINVAR
dbSNP: rs1135401777
rs1135401777
Entrez Id: 2778
Gene Symbol: GNAS
GNAS
CUI: C3494506
Disease:
Pseudohypoparathyroidism, Type Ia 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs137854530
rs137854530
Entrez Id: 2778
Gene Symbol: GNAS
GNAS
CUI: C3494506
Disease:
Pseudohypoparathyroidism, Type Ia 		G 0.700 CausalMutation CLINVAR
dbSNP: rs587776829
rs587776829
Entrez Id: 2778
Gene Symbol: GNAS
GNAS
CUI: C3494506
Disease:
Pseudohypoparathyroidism, Type Ia 		G 0.700 CausalMutation CLINVAR
dbSNP: rs797045046
rs797045046
Entrez Id: 2778
Gene Symbol: GNAS
GNAS
CUI: C3494506
Disease:
Pseudohypoparathyroidism, Type Ia 		T 0.700 CausalMutation CLINVAR Molecular diagnostic experience of whole-exome sequencing in adult patients. 26633545 2016
dbSNP: rs797045046
rs797045046
Entrez Id: 2778
Gene Symbol: GNAS
GNAS
CUI: C3494506
Disease:
Pseudohypoparathyroidism, Type Ia 		T 0.700 CausalMutation CLINVAR Endocrine profile and phenotype-(epi)genotype correlation in Spanish patients with pseudohypoparathyroidism. 23533243 2013
dbSNP: rs797045046
rs797045046
Entrez Id: 2778
Gene Symbol: GNAS
GNAS
CUI: C3494506
Disease:
Pseudohypoparathyroidism, Type Ia 		T 0.700 CausalMutation CLINVAR Increased prevalence of carpal tunnel syndrome in albright hereditary osteodystrophy. 21525160 2011
dbSNP: rs797045046
rs797045046
Entrez Id: 2778
Gene Symbol: GNAS
GNAS
CUI: C3494506
Disease:
Pseudohypoparathyroidism, Type Ia 		T 0.700 CausalMutation CLINVAR Deficiency of the alpha-subunit of the stimulatory G protein and severe extraskeletal ossification. 11092390 2000
dbSNP: rs863224876
rs863224876
Entrez Id: 2778
Gene Symbol: GNAS
GNAS
CUI: C3494506
Disease:
Pseudohypoparathyroidism, Type Ia 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs137854531
rs137854531
Entrez Id: 2778
Gene Symbol: GNAS
GNAS
CUI: C3494506
Disease:
Pseudohypoparathyroidism, Type Ia 		0.800 GeneticVariation UNIPROT Pseudohypoparathyroidism, a novel mutation in the betagamma-contact region of Gsalpha impairs receptor stimulation. 8702665 1996
dbSNP: rs137854531
rs137854531
Entrez Id: 2778
Gene Symbol: GNAS
GNAS
CUI: C3494506
Disease:
Pseudohypoparathyroidism, Type Ia 		0.800 GeneticVariation UNIPROT Conditional activation defect of a human Gsalpha mutant. 9159128 1997
dbSNP: rs137854531
rs137854531
Entrez Id: 2778
Gene Symbol: GNAS
GNAS
CUI: C3494506
Disease:
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
dbSNP: rs137854531
rs137854531
Entrez Id: 2778
Gene Symbol: GNAS
GNAS
CUI: C3494506
Disease:
Pseudohypoparathyroidism, Type Ia 		0.800 GeneticVariation UNIPROT Analysis of the GNAS1 gene in Albright's hereditary osteodystrophy. 11600516 2001
dbSNP: rs137854531
rs137854531
Entrez Id: 2778
Gene Symbol: GNAS
GNAS
CUI: C3494506
Disease:
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