GNAS, GNAS complex locus, 2778

N. diseases: 536; N. variants: 61
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3494506
Disease: Pseudohypoparathyroidism, Type Ia
Pseudohypoparathyroidism, Type Ia
0.800 GeneticVariation disease CLINVAR
CUI: C3494506
Disease: Pseudohypoparathyroidism, Type Ia
Pseudohypoparathyroidism, Type Ia
0.800 GermlineCausalMutation disease ORPHANET
CUI: C3494506
Disease: Pseudohypoparathyroidism, Type Ia
Pseudohypoparathyroidism, Type Ia
0.800 GeneticVariation disease BEFREE Albright hereditary osteodystrophy (AHO) is characterized by multiple somatic defects secondary to mutations in the GNAS1 gene. 12147228 2002
CUI: C3494506
Disease: Pseudohypoparathyroidism, Type Ia
Pseudohypoparathyroidism, Type Ia
0.800 GeneticVariation disease BEFREE Albright hereditary osteodystrophy (AHO) is a genetic disorder caused by heterozygous inactivating mutations in GNAS1, the gene encoding the alpha-chain of G(s), and is associated with short stature, obesity, brachydactyly, and sc ossifications. 12970262 2003
CUI: C3494506
Disease: Pseudohypoparathyroidism, Type Ia
Pseudohypoparathyroidism, Type Ia
0.800 GeneticVariation disease BEFREE Pseudohypoparathyroidism type Ia (PHP-Ia) is caused by maternally inherited heterozygous mutations in the GNAS exons encoding the alpha-subunit of the stimulatory G protein (Gsalpha). 15579741 2004
CUI: C3494506
Disease: Pseudohypoparathyroidism, Type Ia
Pseudohypoparathyroidism, Type Ia
0.800 GeneticVariation disease BEFREE PHP-Ia and PPHP are caused by heterozygous inactivating mutations in those exons of GNAS encoding the alpha subunit of the stimulatory guanine nucleotide-binding protein (Gsalpha), and the autosomal dominant form of PHP-Ib (AD-PHP-Ib) is caused by heterozygous mutations disrupting a long-range imprinting control element of GNAS. 15711092 2005
CUI: C3494506
Disease: Pseudohypoparathyroidism, Type Ia
Pseudohypoparathyroidism, Type Ia
0.800 GeneticVariation disease BEFREE Albright hereditary osteodystrophy with pseudohypoparathyroidism is due to maternal loss-of-function mutations in the GNAS gene. 20738794 2011
CUI: C3494506
Disease: Pseudohypoparathyroidism, Type Ia
Pseudohypoparathyroidism, Type Ia
0.800 GeneticVariation disease BEFREE Pseudohypoparathyroidism type 1a (PHP1a) results from an inactivating mutation in the GNAS1 gene. 21274302 2009
CUI: C3494506
Disease: Pseudohypoparathyroidism, Type Ia
Pseudohypoparathyroidism, Type Ia
0.800 GeneticVariation disease 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
CUI: C3494506
Disease: Pseudohypoparathyroidism, Type Ia
Pseudohypoparathyroidism, Type Ia
0.800 GeneticVariation disease BEFREE 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
CUI: C3494506
Disease: Pseudohypoparathyroidism, Type Ia
Pseudohypoparathyroidism, Type Ia
0.800 GeneticVariation disease BEFREE Pseudohypoparathyroidism type Ia and pseudo-pseudohypoparathyroidism: the growing spectrum of GNAS inactivating mutations. 23281139 2013
CUI: C3494506
Disease: Pseudohypoparathyroidism, Type Ia
Pseudohypoparathyroidism, Type Ia
0.800 GeneticVariation disease BEFREE Pseudohypoparathyroidism type Ia (PHP1A) or type Ib (PHP1B) are caused by heterozygous maternal GNAS mutations suggesting that little or no Gαs is derived in some tissues from the non-mutated paternal GNAS thereby causing hormonal resistance. 28694163 2017
CUI: C3494506
Disease: Pseudohypoparathyroidism, Type Ia
Pseudohypoparathyroidism, Type Ia
0.800 AlteredExpression disease BEFREE GNAS was expressed equally from each allele in normals and two of five AHO patients. cAMP generation was significantly reduced in nasal respiratory epithelial cells from AHO patients, compared with normal controls (0.4 vs. 0.6, P = 0.0008). 17652219 2007
CUI: C3494506
Disease: Pseudohypoparathyroidism, Type Ia
Pseudohypoparathyroidism, Type Ia
0.800 GeneticVariation disease BEFREE GNAS mutations in Pseudohypoparathyroidism type 1a and related disorders. 25219572 2015
CUI: C3494506
Disease: Pseudohypoparathyroidism, Type Ia
Pseudohypoparathyroidism, Type Ia
0.800 GeneticVariation disease BEFREE A maternally inherited 2015-bp deletion that includes GNAS exon 1 was identified thereby establishing the diagnosis of PHP1A. 28711660 2017
CUI: C3494506
Disease: Pseudohypoparathyroidism, Type Ia
Pseudohypoparathyroidism, Type Ia
0.800 GeneticVariation disease BEFREE A new heterozygous mutation (L338N) in the human Gsalpha (GNAS1) gene as a cause for congenital hypothyroidism in Albright's hereditary osteodystrophy. 12656668 2003
CUI: C3494506
Disease: Pseudohypoparathyroidism, Type Ia
Pseudohypoparathyroidism, Type Ia
0.800 Biomarker disease 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
CUI: C3494506
Disease: Pseudohypoparathyroidism, Type Ia
Pseudohypoparathyroidism, Type Ia
0.800 GeneticVariation disease BEFREE A novel GNAS1 mutation in a German family with Albright's hereditary osteodystrophy. 19856255 2010
CUI: C3494506
Disease: Pseudohypoparathyroidism, Type Ia
Pseudohypoparathyroidism, Type Ia
0.800 GeneticVariation disease UNIPROT A novel Gs alpha mutant in a patient with Albright hereditary osteodystrophy uncouples cell surface receptors from adenylyl cyclase. 7523385 1994
CUI: C3494506
Disease: Pseudohypoparathyroidism, Type Ia
Pseudohypoparathyroidism, Type Ia
0.800 Biomarker disease GENOMICS_ENGLAND A novel mutation adjacent to the switch III domain of G(S alpha) in a patient with pseudohypoparathyroidism. 9328353 1997
CUI: C3494506
Disease: Pseudohypoparathyroidism, Type Ia
Pseudohypoparathyroidism, Type Ia
0.800 GeneticVariation disease UNIPROT A novel mutation adjacent to the switch III domain of G(S alpha) in a patient with pseudohypoparathyroidism. 9328353 1997
CUI: C3494506
Disease: Pseudohypoparathyroidism, Type Ia
Pseudohypoparathyroidism, Type Ia
0.800 Biomarker disease GENOMICS_ENGLAND A novel mutation in a case of pseudohypoparathyroidism type Ia. 27922245 2016
CUI: C3494506
Disease: Pseudohypoparathyroidism, Type Ia
Pseudohypoparathyroidism, Type Ia
0.800 GeneticVariation disease 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
CUI: C3494506
Disease: Pseudohypoparathyroidism, Type Ia
Pseudohypoparathyroidism, Type Ia
0.800 CausalMutation disease 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
CUI: C3494506
Disease: Pseudohypoparathyroidism, Type Ia
Pseudohypoparathyroidism, Type Ia
0.800 AlteredExpression disease BEFREE A PubMed search was used to identify the available studies (main query terms: pseudohypoparathyroidism; Albright hereditary osteodystrophy; GNAS; GNAS1; progressive osseous heteroplasia). 21816789 2011