DisGeNET - a database of gene-disease associations

GNAS, GNAS complex locus, 2778

N. diseases: 536; N. variants: 61

Disease: Pseudohypoparathyroidism, Type Ia ×

Source: ALL

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs137854539

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

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

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

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

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

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

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:

rs137854538

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:

rs137854538

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:

rs137854539

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:

rs137854539

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

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

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:

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

dbSNP:

rs137854538

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:

rs137854539

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

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

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:

rs137854534

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:

rs137854538

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:

rs137854539

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

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

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

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:

rs137854538

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