×
Entrez Id:
2778
Gene Symbol:
GNAS
GNAS
Dysmorphic features
0.100
CausalMutation
CLINVAR
Imprinting in Albright's hereditary osteodystrophy.
8383205
1993
×
Entrez Id:
2778
Gene Symbol:
GNAS
GNAS
Dysmorphic features
0.100
GeneticVariation
CLINVAR
Imprinting in Albright's hereditary osteodystrophy.
8383205
1993
×
Entrez Id:
2778
Gene Symbol:
GNAS
GNAS
Dysmorphic features
0.100
CausalMutation
CLINVAR
Activating and inactivating mutations in the human GNAS1 gene.
10980525
2000
×
Entrez Id:
2778
Gene Symbol:
GNAS
GNAS
Dysmorphic features
0.100
GeneticVariation
CLINVAR
Activating and inactivating mutations in the human GNAS1 gene.
10980525
2000
×
Entrez Id:
2778
Gene Symbol:
GNAS
GNAS
Dysmorphic features
0.100
GeneticVariation
CLINVAR
Analysis of the GNAS1 gene in Albright's hereditary osteodystrophy.
11600516
2001
×
Entrez Id:
2778
Gene Symbol:
GNAS
GNAS
Dysmorphic features
0.100
CausalMutation
CLINVAR
Analysis of the GNAS1 gene in Albright's hereditary osteodystrophy.
11600516
2001
×
Entrez Id:
2778
Gene Symbol:
GNAS
GNAS
Dysmorphic features
0.100
CausalMutation
CLINVAR
Autosomal dominant pseudohypoparathyroidism type Ib is associated with a heterozygous microdeletion that likely disrupts a putative imprinting control element of GNAS.
14561710
2003
×
Entrez Id:
2778
Gene Symbol:
GNAS
GNAS
Dysmorphic features
0.100
GeneticVariation
CLINVAR
Autosomal dominant pseudohypoparathyroidism type Ib is associated with a heterozygous microdeletion that likely disrupts a putative imprinting control element of GNAS.
14561710
2003
×
Entrez Id:
2778
Gene Symbol:
GNAS
GNAS
Dysmorphic features
0.100
CausalMutation
CLINVAR
Mutations in the Gs alpha gene causing hormone resistance.
17161328
2006
×
Entrez Id:
2778
Gene Symbol:
GNAS
GNAS
Dysmorphic features
0.100
GeneticVariation
CLINVAR
Mutations in the Gs alpha gene causing hormone resistance.
17161328
2006
×
Entrez Id:
2778
Gene Symbol:
GNAS
GNAS
Dysmorphic features
0.100
GeneticVariation
CLINVAR
Compound heterozygous mutations in the GNAS gene of a boy with morbid obesity, thyroid-stimulating hormone resistance, pseudohypoparathyroidism, and a prothrombotic state.
18796523
2008
×
Entrez Id:
2778
Gene Symbol:
GNAS
GNAS
Dysmorphic features
0.100
CausalMutation
CLINVAR
Compound heterozygous mutations in the GNAS gene of a boy with morbid obesity, thyroid-stimulating hormone resistance, pseudohypoparathyroidism, and a prothrombotic state.
18796523
2008
×
Entrez Id:
2778
Gene Symbol:
GNAS
GNAS
Dysmorphic features
0.100
GeneticVariation
CLINVAR
Pseudohypoparathyroidism type Ia and pseudo-pseudohypoparathyroidism: the growing spectrum of GNAS inactivating mutations.
23281139
2013
×
Entrez Id:
2778
Gene Symbol:
GNAS
GNAS
Dysmorphic features
0.100
CausalMutation
CLINVAR
Pseudohypoparathyroidism type Ia and pseudo-pseudohypoparathyroidism: the growing spectrum of GNAS inactivating mutations.
23281139
2013
×
Entrez Id:
2778
Gene Symbol:
GNAS
GNAS
Dysmorphic features
0.100
CausalMutation
CLINVAR
Paternal GNAS mutations lead to severe intrauterine growth retardation (IUGR) and provide evidence for a role of XLαs in fetal development.
23884777
2013
×
Entrez Id:
2778
Gene Symbol:
GNAS
GNAS
Dysmorphic features
0.100
GeneticVariation
CLINVAR
Paternal GNAS mutations lead to severe intrauterine growth retardation (IUGR) and provide evidence for a role of XLαs in fetal development.
23884777
2013
×
Entrez Id:
2778
Gene Symbol:
GNAS
GNAS
Dysmorphic features
0.100
GeneticVariation
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
×
Entrez Id:
2778
Gene Symbol:
GNAS
GNAS
Dysmorphic features
0.100
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
×
Entrez Id:
2778
Gene Symbol:
GNAS
GNAS
Dysmorphic features
0.100
GeneticVariation
CLINVAR
Clinical genomics expands the morbid genome of intellectual disability and offers a high diagnostic yield.
27431290
2017
×
Entrez Id:
2778
Gene Symbol:
GNAS
GNAS
Dysmorphic features
0.100
CausalMutation
CLINVAR
Clinical genomics expands the morbid genome of intellectual disability and offers a high diagnostic yield.
27431290
2017