×
Entrez Id: 2778
Gene Symbol: GNAS
GNAS
Pseudopseudohypoparathyroidism
1.000
Biomarker
CTD_human
An inherited mutation associated with functional deficiency of the alpha-subunit of the guanine nucleotide-binding protein Gs in pseudo- and pseudopseudohypoparathyroidism.
9506752 1998
×
Entrez Id: 2778
Gene Symbol: GNAS
GNAS
Pseudopseudohypoparathyroidism
1.000
GermlineCausalMutation
ORPHANET
×
Entrez Id: 2778
Gene Symbol: GNAS
GNAS
Pseudopseudohypoparathyroidism
1.000
Biomarker
GENOMICS_ENGLAND
×
Entrez Id: 2778
Gene Symbol: GNAS
GNAS
PSEUDOHYPOPARATHYROIDISM, TYPE IB
0.800
Biomarker
GENOMICS_ENGLAND
Severe obesity had been noted in five infants, with a later diagnosis of PHP1B due to STX16 deletions and/or abnormal GNAS methylation.
28453643 2017
×
Entrez Id: 2778
Gene Symbol: GNAS
GNAS
Pseudohypoparathyroidism, Type Ia
0.800
Biomarker
GENOMICS_ENGLAND
Similarly, impressive early weight gains were noted in five patients, who initially lacked additional Albright hereditary osteodystrophy features but in whom PHP1A due to GNAS mutations involving exons encoding Gsα was diagnosed.
28453643 2017
×
Entrez Id: 2778
Gene Symbol: GNAS
GNAS
Pseudohypoparathyroidism, Type Ia
0.800
Biomarker
GENOMICS_ENGLAND
A novel mutation in a case of pseudohypoparathyroidism type Ia.
27922245 2016
×
Entrez Id: 2778
Gene Symbol: GNAS
GNAS
Pseudohypoparathyroidism, Type Ia
0.800
Biomarker
GENOMICS_ENGLAND
Pediatric Cranial Vault Fractures: Analysis of Demographics, Injury Patterns, and Factors Predictive of Mortality.
26267576 2015
×
Entrez Id: 2778
Gene Symbol: GNAS
GNAS
PSEUDOHYPOPARATHYROIDISM, TYPE IB
0.800
Biomarker
CTD_human
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
×
Entrez Id: 2778
Gene Symbol: GNAS
GNAS
Albright's hereditary osteodystrophy
0.800
Biomarker
CTD_human
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
×
Entrez Id: 2778
Gene Symbol: GNAS
GNAS
Pseudohypoparathyroidism, Type Ia
0.800
GeneticVariation
UNIPROT
Pseudohypoparathyroidism type Ia (PHPIa ) is caused by GNAS mutations leading to deficiency of the α-subunit of stimulatory G proteins (Gsα) that mediate signal transduction of G protein-coupled receptors via cAMP.21488135 2011
×
Entrez Id: 2778
Gene Symbol: GNAS
GNAS
Pseudohypoparathyroidism, Type Ia
0.800
Biomarker
CTD_human
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
×
Entrez Id: 2778
Gene Symbol: GNAS
GNAS
Osteoma cutis
0.800
GermlineCausalMutation
ORPHANET
Paternal origin of GNAS mutations was clearly demonstrated in eight POH cases including one patient with mutation in exon 1.
20427508 2010
×
Entrez Id: 2778
Gene Symbol: GNAS
GNAS
McCune-Albright Syndrome
0.800
Biomarker
CTD_human
Update on the etiology, diagnosis and therapeutic management of sexual precocity.
18345393 2008
×
Entrez Id: 2778
Gene Symbol: GNAS
GNAS
Osteoma cutis
0.800
GermlineCausalMutation
ORPHANET
We present an unusual case of a boy with clinical features of both POH and PHP Ia, and a GNAS inactivating mutation.
17321228 2007
×
Entrez Id: 2778
Gene Symbol: GNAS
GNAS
PSEUDOHYPOPARATHYROIDISM, TYPE IB
0.800
Biomarker
CTD_human
A disruptive mutation in exon 3 of the GNAS gene with albright hereditary osteodystrophy, normocalcemic pseudohypoparathyroidism, and selective long transcript variant Gsalpha-L deficiency.
17299070 2007
×
Entrez Id: 2778
Gene Symbol: GNAS
GNAS
Albright's hereditary osteodystrophy
0.800
Biomarker
CTD_human
Heterozygous inactivating maternally inherited mutations of GNAS lead to a phenotype in which Albright hereditary osteodystrophy is associated with pseudohypoparathyroidism type Ia.
17299070 2007
×
Entrez Id: 2778
Gene Symbol: GNAS
GNAS
Pseudohypoparathyroidism, Type Ia
0.800
Biomarker
CTD_human
Heterozygous inactivating maternally inherited mutations of GNAS lead to a phenotype in which Albright hereditary osteodystrophy is associated with pseudohypoparathyroidism type Ia .
17299070 2007
×
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
×
Entrez Id: 2778
Gene Symbol: GNAS
GNAS
Osteoma cutis
0.800
GeneticVariation
UNIPROT
With only nine mutations of the GNAS1 gene reported so far in progressive osseous heteroplasia , this new mutation helps to extend further the genotype-phenotype correlation.
14723729 2004
×
Entrez Id: 2778
Gene Symbol: GNAS
GNAS
Osteoma cutis
0.800
GermlineCausalMutation
ORPHANET
With only nine mutations of the GNAS1 gene reported so far in progressive osseous heteroplasia , this new mutation helps to extend further the genotype-phenotype correlation.
14723729 2004
×
Entrez Id: 2778
Gene Symbol: GNAS
GNAS
McCune-Albright Syndrome
0.800
Biomarker
GENOMICS_ENGLAND
Thyroid carcinoma in the McCune-Albright syndrome: contributory role of activating Gs alpha mutations.
12970318 2003
×
Entrez Id: 2778
Gene Symbol: GNAS
GNAS
Pseudohypoparathyroidism, Type Ia
0.800
GeneticVariation
UNIPROT
We set out to identify the parental origin of GNAS1 mutations in patients with AHO by searching for their mutation in the overlapping transcripts.
12624854 2003
×
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
×
Entrez Id: 2778
Gene Symbol: GNAS
GNAS
Pseudohypoparathyroidism, Type Ia
0.800
GeneticVariation
UNIPROT
We conclude that biochemical and molecular analysis of Gsalpha and its gene GNAS1 can be valuable tools to confirm the diagnosis of AHO .
11600516 2001
×
Entrez Id: 2778
Gene Symbol: GNAS
GNAS
McCune-Albright Syndrome
0.800
Biomarker
GENOMICS_ENGLAND
Demonstration of McCune-Albright mutations in the liver of children with high gammaGT progressive cholestasis.
10673080 2000