GNAS, GNAS complex locus, 2778

N. diseases: 536; N. variants: 61
Disease: Pseudopseudohypoparathyroidism ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs797045046
rs797045046
Entrez Id: 2778
Gene Symbol: GNAS
GNAS
CUI: C0033835
Disease:
Pseudopseudohypoparathyroidism 		T 0.700 CausalMutation CLINVAR Molecular diagnostic experience of whole-exome sequencing in adult patients. 26633545 2016
dbSNP: rs1555889131
rs1555889131
Entrez Id: 2778
Gene Symbol: GNAS
GNAS
CUI: C0033835
Disease:
Pseudopseudohypoparathyroidism 		A 0.700 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: rs797045046
rs797045046
Entrez Id: 2778
Gene Symbol: GNAS
GNAS
CUI: C0033835
Disease:
Pseudopseudohypoparathyroidism 		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: C0033835
Disease:
Pseudopseudohypoparathyroidism 		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: C0033835
Disease:
Pseudopseudohypoparathyroidism 		T 0.700 CausalMutation CLINVAR Deficiency of the alpha-subunit of the stimulatory G protein and severe extraskeletal ossification. 11092390 2000
dbSNP: rs137854535
rs137854535
Entrez Id: 2778
Gene Symbol: GNAS
GNAS
CUI: C0033835
Disease:
Pseudopseudohypoparathyroidism 		T 0.700 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
dbSNP: rs1057518907
rs1057518907
Entrez Id: 2778
Gene Symbol: GNAS
GNAS
CUI: C0033835
Disease:
Pseudopseudohypoparathyroidism 		T 0.700 CausalMutation CLINVAR
dbSNP: rs1135401777
rs1135401777
Entrez Id: 2778
Gene Symbol: GNAS
GNAS
CUI: C0033835
Disease:
Pseudopseudohypoparathyroidism 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs1272546759
rs1272546759
Entrez Id: 2778
Gene Symbol: GNAS
GNAS
CUI: C0033835
Disease:
Pseudopseudohypoparathyroidism 		G 0.700 GeneticVariation CLINVAR
dbSNP: rs137854530
rs137854530
Entrez Id: 2778
Gene Symbol: GNAS
GNAS
CUI: C0033835
Disease:
Pseudopseudohypoparathyroidism 		G 0.700 CausalMutation CLINVAR
dbSNP: rs137854536
rs137854536
Entrez Id: 2778
Gene Symbol: GNAS
GNAS
CUI: C0033835
Disease:
Pseudopseudohypoparathyroidism 		GC 0.700 CausalMutation CLINVAR
dbSNP: rs137854539
rs137854539
Entrez Id: 2778
Gene Symbol: GNAS
GNAS
CUI: C0033835
Disease:
Pseudopseudohypoparathyroidism 		T 0.700 CausalMutation CLINVAR
dbSNP: rs1569015549
rs1569015549
Entrez Id: 2778
Gene Symbol: GNAS
GNAS
CUI: C0033835
Disease:
Pseudopseudohypoparathyroidism 		C 0.700 GeneticVariation CLINVAR
dbSNP: rs587776829
rs587776829
Entrez Id: 2778
Gene Symbol: GNAS
GNAS
CUI: C0033835
Disease:
Pseudopseudohypoparathyroidism 		G 0.700 CausalMutation CLINVAR