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: rs137854531
rs137854531
Entrez Id: 2778
Gene Symbol: GNAS
GNAS
CUI: C3494506
Disease:
Pseudohypoparathyroidism, Type Ia 		0.800 GeneticVariation UNIPROT Pseudohypoparathyroidism, a novel mutation in the betagamma-contact region of Gsalpha impairs receptor stimulation. 8702665 1996
dbSNP: rs137854531
rs137854531
Entrez Id: 2778
Gene Symbol: GNAS
GNAS
CUI: C3494506
Disease:
Pseudohypoparathyroidism, Type Ia 		0.800 GeneticVariation UNIPROT Conditional activation defect of a human Gsalpha mutant. 9159128 1997
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: 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 A novel mutation adjacent to the switch III domain of G(S alpha) in a patient with pseudohypoparathyroidism. 9328353 1997
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: 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: rs137854531
rs137854531
Entrez Id: 2778
Gene Symbol: GNAS
GNAS
CUI: C3494506
Disease:
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
dbSNP: rs137854531
rs137854531
Entrez Id: 2778
Gene Symbol: GNAS
GNAS
CUI: C3494506
Disease:
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
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 Heterogeneous mutations in the gene encoding the alpha-subunit of the stimulatory G protein of adenylyl cyclase in Albright hereditary osteodystrophy. 8388883 1993
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: 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: rs137854532
rs137854532
Entrez Id: 2778
Gene Symbol: GNAS
GNAS
CUI: C3494506
Disease:
Pseudohypoparathyroidism, Type Ia 		0.800 GeneticVariation UNIPROT Pseudohypoparathyroidism, a novel mutation in the betagamma-contact region of Gsalpha impairs receptor stimulation. 8702665 1996
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: rs137854532
rs137854532
Entrez Id: 2778
Gene Symbol: GNAS
GNAS
CUI: C3494506
Disease:
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
dbSNP: rs137854532
rs137854532
Entrez Id: 2778
Gene Symbol: GNAS
GNAS
CUI: C3494506
Disease:
Pseudohypoparathyroidism, Type Ia 		0.800 GeneticVariation UNIPROT Conditional activation defect of a human Gsalpha mutant. 9159128 1997
dbSNP: rs137854532
rs137854532
Entrez Id: 2778
Gene Symbol: GNAS
GNAS
CUI: C3494506
Disease:
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
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 Conditional activation defect of a human Gsalpha mutant. 9159128 1997
dbSNP: rs137854534
rs137854534
Entrez Id: 2778
Gene Symbol: GNAS
GNAS
CUI: C3494506
Disease:
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
dbSNP: rs137854534
rs137854534
Entrez Id: 2778
Gene Symbol: GNAS
GNAS
CUI: C3494506
Disease:
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
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 Pseudohypoparathyroidism, a novel mutation in the betagamma-contact region of Gsalpha impairs receptor stimulation. 8702665 1996