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
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
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
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
rs137854538
×
Entrez Id:
2778
Gene Symbol:
GNAS
GNAS
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
rs137854538
×
Entrez Id:
2778
Gene Symbol:
GNAS
GNAS
Pseudohypoparathyroidism, Type Ia
0.800
GeneticVariation
UNIPROT
Conditional activation defect of a human Gsalpha mutant.
9159128
1997
rs137854538
×
Entrez Id:
2778
Gene Symbol:
GNAS
GNAS
Pseudohypoparathyroidism, Type Ia
0.800
GeneticVariation
UNIPROT
Pseudohypoparathyroidism, a novel mutation in the betagamma-contact region of Gsalpha impairs receptor stimulation.
8702665
1996
rs137854538
×
Entrez Id:
2778
Gene Symbol:
GNAS
GNAS
Pseudohypoparathyroidism, Type Ia
0.800
GeneticVariation
UNIPROT
A novel Gs alpha mutant in a patient with Albright hereditary osteodystrophy uncouples cell surface receptors from adenylyl cyclase.
7523385
1994
rs137854538
×
Entrez Id:
2778
Gene Symbol:
GNAS
GNAS
Pseudohypoparathyroidism, Type Ia
0.800
GeneticVariation
UNIPROT
Heterogeneous mutations in the gene encoding the alpha-subunit of the stimulatory G protein of adenylyl cyclase in Albright hereditary osteodystrophy.
8388883
1993
rs137854538
×
Entrez Id:
2778
Gene Symbol:
GNAS
GNAS
Pseudohypoparathyroidism, Type Ia
A
0.800
CausalMutation
CLINVAR