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: 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: 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: rs137854532
rs137854532
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: rs137854534
rs137854534
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: rs137854538
rs137854538
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: rs137854539
rs137854539
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 GNAS1 and overlapping transcripts identifies the parental origin of mutations in patients with sporadic Albright hereditary osteodystrophy and reveals a model system in which to observe the effects of splicing mutations on translated and untranslated messenger RNA. 12624854 2003
dbSNP: rs137854532
rs137854532
Entrez Id: 2778
Gene Symbol: GNAS
GNAS
CUI: C3494506
Disease:
Pseudohypoparathyroidism, Type Ia 		0.800 GeneticVariation UNIPROT Analysis of GNAS1 and overlapping transcripts identifies the parental origin of mutations in patients with sporadic Albright hereditary osteodystrophy and reveals a model system in which to observe the effects of splicing mutations on translated and untranslated messenger RNA. 12624854 2003
dbSNP: rs137854534
rs137854534
Entrez Id: 2778
Gene Symbol: GNAS
GNAS
CUI: C3494506
Disease:
Pseudohypoparathyroidism, Type Ia 		0.800 GeneticVariation UNIPROT Analysis of GNAS1 and overlapping transcripts identifies the parental origin of mutations in patients with sporadic Albright hereditary osteodystrophy and reveals a model system in which to observe the effects of splicing mutations on translated and untranslated messenger RNA. 12624854 2003
dbSNP: rs137854538
rs137854538
Entrez Id: 2778
Gene Symbol: GNAS
GNAS
CUI: C3494506
Disease:
Pseudohypoparathyroidism, Type Ia 		0.800 GeneticVariation UNIPROT Analysis of GNAS1 and overlapping transcripts identifies the parental origin of mutations in patients with sporadic Albright hereditary osteodystrophy and reveals a model system in which to observe the effects of splicing mutations on translated and untranslated messenger RNA. 12624854 2003
dbSNP: rs137854539
rs137854539
Entrez Id: 2778
Gene Symbol: GNAS
GNAS
CUI: C3494506
Disease:
Pseudohypoparathyroidism, Type Ia 		0.800 GeneticVariation UNIPROT Analysis of GNAS1 and overlapping transcripts identifies the parental origin of mutations in patients with sporadic Albright hereditary osteodystrophy and reveals a model system in which to observe the effects of splicing mutations on translated and untranslated messenger RNA. 12624854 2003
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 Two mutations of the Gsalpha gene in two Japanese patients with sporadic pseudohypoparathyroidism type Ia. 11450852 2001
dbSNP: rs137854532
rs137854532
Entrez Id: 2778
Gene Symbol: GNAS
GNAS
CUI: C3494506
Disease:
Pseudohypoparathyroidism, Type Ia 		0.800 GeneticVariation UNIPROT Two mutations of the Gsalpha gene in two Japanese patients with sporadic pseudohypoparathyroidism type Ia. 11450852 2001
dbSNP: rs137854532
rs137854532
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: rs137854534
rs137854534
Entrez Id: 2778
Gene Symbol: GNAS
GNAS
CUI: C3494506
Disease:
Pseudohypoparathyroidism, Type Ia 		0.800 GeneticVariation UNIPROT Two mutations of the Gsalpha gene in two Japanese patients with sporadic pseudohypoparathyroidism type Ia. 11450852 2001
dbSNP: rs137854534
rs137854534
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: rs137854538
rs137854538
Entrez Id: 2778
Gene Symbol: GNAS
GNAS
CUI: C3494506
Disease:
Pseudohypoparathyroidism, Type Ia 		0.800 GeneticVariation UNIPROT Two mutations of the Gsalpha gene in two Japanese patients with sporadic pseudohypoparathyroidism type Ia. 11450852 2001
dbSNP: rs137854538
rs137854538
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: rs137854539
rs137854539
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: rs137854539
rs137854539
Entrez Id: 2778
Gene Symbol: GNAS
GNAS
CUI: C3494506
Disease:
Pseudohypoparathyroidism, Type Ia 		0.800 GeneticVariation UNIPROT Two mutations of the Gsalpha gene in two Japanese patients with sporadic pseudohypoparathyroidism type Ia. 11450852 2001
dbSNP: rs137854531
rs137854531
Entrez Id: 2778
Gene Symbol: GNAS
GNAS
CUI: C3494506
Disease:
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
dbSNP: rs137854532
rs137854532
Entrez Id: 2778
Gene Symbol: GNAS
GNAS
CUI: C3494506
Disease:
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
dbSNP: rs137854534
rs137854534
Entrez Id: 2778
Gene Symbol: GNAS
GNAS
CUI: C3494506
Disease:
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
dbSNP: rs137854538
rs137854538
Entrez Id: 2778
Gene Symbol: GNAS
GNAS
CUI: C3494506
Disease:
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