GNAS, GNAS complex locus, 2778

N. diseases: 536; N. variants: 61
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121913495
rs121913495
Entrez Id: 2778
Gene Symbol: GNAS
GNAS
CUI: C0242292
Disease:
McCune-Albright Syndrome 		0.850 GeneticVariation UNIPROT Overexpression of Gs alpha subunit in thyroid tumors bearing a mutated Gs alpha gene. 7751320 1995
dbSNP: rs121913495
rs121913495
Entrez Id: 2778
Gene Symbol: GNAS
GNAS
CUI: C0242292
Disease:
McCune-Albright Syndrome 		0.850 GeneticVariation UNIPROT A novel GNAS1 mutation, R201G, in McCune-albright syndrome. 10571700 1999
dbSNP: rs121913495
rs121913495
Entrez Id: 2778
Gene Symbol: GNAS
GNAS
CUI: C0242292
Disease:
McCune-Albright Syndrome 		0.850 GeneticVariation UNIPROT Identification of a mutation in the gene encoding the alpha subunit of the stimulatory G protein of adenylyl cyclase in McCune-Albright syndrome. 1594625 1992
dbSNP: rs121913495
rs121913495
Entrez Id: 2778
Gene Symbol: GNAS
GNAS
CUI: C0242292
Disease:
McCune-Albright Syndrome 		0.850 GeneticVariation UNIPROT Activating mutations of the stimulatory G protein in the McCune-Albright syndrome. 1944469 1991
dbSNP: rs11554273
rs11554273
Entrez Id: 2778
Gene Symbol: GNAS
GNAS
CUI: C1857451
Disease:
Acth-Independent Macronodular Adrenal Hyperplasia 		0.800 GeneticVariation UNIPROT
dbSNP: rs121913495
rs121913495
Entrez Id: 2778
Gene Symbol: GNAS
GNAS
CUI: C1857451
Disease:
Acth-Independent Macronodular Adrenal Hyperplasia 		0.800 GeneticVariation UNIPROT Cushing's syndrome secondary to adrenocorticotropin-independent macronodular adrenocortical hyperplasia due to activating mutations of GNAS1 gene. 12727968 2003
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