rs137854532
×
Entrez Id:
2778
Gene Symbol:
GNAS
GNAS
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
rs137854531
×
Entrez Id:
2778
Gene Symbol:
GNAS
GNAS
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
rs137854532
×
Entrez Id:
2778
Gene Symbol:
GNAS
GNAS
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
rs137854534
×
Entrez Id:
2778
Gene Symbol:
GNAS
GNAS
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
rs137854538
×
Entrez Id:
2778
Gene Symbol:
GNAS
GNAS
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
rs137854539
×
Entrez Id:
2778
Gene Symbol:
GNAS
GNAS
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
rs137854531
×
Entrez Id:
2778
Gene Symbol:
GNAS
GNAS
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
rs137854532
×
Entrez Id:
2778
Gene Symbol:
GNAS
GNAS
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
rs137854534
×
Entrez Id:
2778
Gene Symbol:
GNAS
GNAS
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
rs137854538
×
Entrez Id:
2778
Gene Symbol:
GNAS
GNAS
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
rs137854539
×
Entrez Id:
2778
Gene Symbol:
GNAS
GNAS
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
rs137854531
×
Entrez Id:
2778
Gene Symbol:
GNAS
GNAS
Pseudohypoparathyroidism, Type Ia
0.800
GeneticVariation
UNIPROT
Analysis of the GNAS1 gene in Albright's hereditary osteodystrophy.
11600516
2001
rs137854531
×
Entrez Id:
2778
Gene Symbol:
GNAS
GNAS
Pseudohypoparathyroidism, Type Ia
0.800
GeneticVariation
UNIPROT
Two mutations of the Gsalpha gene in two Japanese patients with sporadic pseudohypoparathyroidism type Ia.
11450852
2001
rs137854532
×
Entrez Id:
2778
Gene Symbol:
GNAS
GNAS
Pseudohypoparathyroidism, Type Ia
0.800
GeneticVariation
UNIPROT
Two mutations of the Gsalpha gene in two Japanese patients with sporadic pseudohypoparathyroidism type Ia.
11450852
2001
rs137854532
×
Entrez Id:
2778
Gene Symbol:
GNAS
GNAS
Pseudohypoparathyroidism, Type Ia
0.800
GeneticVariation
UNIPROT
Analysis of the GNAS1 gene in Albright's hereditary osteodystrophy.
11600516
2001
rs137854534
×
Entrez Id:
2778
Gene Symbol:
GNAS
GNAS
Pseudohypoparathyroidism, Type Ia
0.800
GeneticVariation
UNIPROT
Two mutations of the Gsalpha gene in two Japanese patients with sporadic pseudohypoparathyroidism type Ia.
11450852
2001
rs137854534
×
Entrez Id:
2778
Gene Symbol:
GNAS
GNAS
Pseudohypoparathyroidism, Type Ia
0.800
GeneticVariation
UNIPROT
Analysis of the GNAS1 gene in Albright's hereditary osteodystrophy.
11600516
2001
rs137854538
×
Entrez Id:
2778
Gene Symbol:
GNAS
GNAS
Pseudohypoparathyroidism, Type Ia
0.800
GeneticVariation
UNIPROT
Two mutations of the Gsalpha gene in two Japanese patients with sporadic pseudohypoparathyroidism type Ia.
11450852
2001
rs137854538
×
Entrez Id:
2778
Gene Symbol:
GNAS
GNAS
Pseudohypoparathyroidism, Type Ia
0.800
GeneticVariation
UNIPROT
Analysis of the GNAS1 gene in Albright's hereditary osteodystrophy.
11600516
2001
rs137854539
×
Entrez Id:
2778
Gene Symbol:
GNAS
GNAS
Pseudohypoparathyroidism, Type Ia
0.800
GeneticVariation
UNIPROT
Analysis of the GNAS1 gene in Albright's hereditary osteodystrophy.
11600516
2001
rs137854539
×
Entrez Id:
2778
Gene Symbol:
GNAS
GNAS
Pseudohypoparathyroidism, Type Ia
0.800
GeneticVariation
UNIPROT
Two mutations of the Gsalpha gene in two Japanese patients with sporadic pseudohypoparathyroidism type Ia.
11450852
2001
rs137854531
×
Entrez Id:
2778
Gene Symbol:
GNAS
GNAS
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
rs137854532
×
Entrez Id:
2778
Gene Symbol:
GNAS
GNAS
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
rs137854534
×
Entrez Id:
2778
Gene Symbol:
GNAS
GNAS
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
rs137854538
×
Entrez Id:
2778
Gene Symbol:
GNAS
GNAS
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