Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2778
Gene Symbol: GNAS
GNAS
0.700 AlteredExpression disease BEFREE Pseudohypoparathyroidism (PHP) is a rare endocrine disorder derived from the defective activation of the cAMP pathway by the parathyroid hormone secondary to GNAS molecular defects. 31555217 2019
Entrez Id: 2778
Gene Symbol: GNAS
GNAS
0.700 PosttranslationalModification disease BEFREE Pseudohypoparathyroidism 1B (PHP1B) is caused by maternal epigenetic defects in the imprinted GNAS cluster. 30905746 2019
Entrez Id: 2778
Gene Symbol: GNAS
GNAS
0.700 GeneticVariation disease BEFREE Whole exome sequencing revealed an inactivating mutation in GNAS that was previously described as causing pseudohypoparathyroidism. 31215057 2019
Entrez Id: 2778
Gene Symbol: GNAS
GNAS
0.700 GeneticVariation disease BEFREE Short metacarpals and/or metatarsals are typically observed in pseudohypoparathyroidism (PHP) type Ia (PHP1A) or pseudo-PHP (PPHP), disorders caused by inactivating GNAS mutations involving exons encoding the alpha-subunit of the stimulatory G protein (Gsα). 30458061 2019
Entrez Id: 2778
Gene Symbol: GNAS
GNAS
0.700 GeneticVariation disease BEFREE Pseudohypoparathyroidism (PHP) is caused by mutations and epimutations in the GNAS locus, and characterized by the possibility of resistance to multiple hormones and Albright's hereditary osteodystrophy. 29136292 2018
Entrez Id: 2778
Gene Symbol: GNAS
GNAS
0.700 GeneticVariation disease BEFREE Genetic or epigenetic alterations in the complex imprinted GNAS locus, encoding the alpha-subunit of the stimulatory G protein (GSα) and several other transcripts, give rise to the different forms oh PHP, which can be differentiated according to the phenotype, the response to PTH infusion and in vitro assays testing Gsα activity. 29125274 2018
Entrez Id: 2778
Gene Symbol: GNAS
GNAS
0.700 GeneticVariation disease BEFREE Autosomal dominant PHP type Ib (AD-PHP1B) is caused by heterozygous maternal deletions within GNAS or STX16, which are associated with loss-of-methylation (LOM) at exon A/B alone or at all maternally methylated GNAS exons. 27995443 2017
Entrez Id: 2778
Gene Symbol: GNAS
GNAS
0.700 PosttranslationalModification disease BEFREE These are termed, starting from PTH receptor inactivation mutation (Eiken and Blomstrand dysplasia) as iPPSD1, inactivating Gsα mutations (PHP-Ia, PHP-Ic and pPHP) as iPPSD2, loss of methylation of GNAS DMRs (PHP-Ib) as iPPSD3, PRKAR1A mutations (acrodysostosis type 1) as iPPSD4, PDE4D mutations (acrodysostosis type 2) as iPPSD5 and PDE3A mutations (autosomal dominant hypertension with brachydactyly) as iPPSD6. iPPSDx is reserved for unknown molecular defects and iPPSDn+1 for new molecular defects which are yet to be described. 29280743 2017
Entrez Id: 2778
Gene Symbol: GNAS
GNAS
0.700 Biomarker disease BEFREE Interestingly, in contrast to the notion that all PHP patients share methylation defects in the A/B DMR while only PHP(Δstx16) patients have normal NESP, GNAS-AS1 and XL methylation, we found a novel DMR (named GNAS-AS2) in the GNAS-AS1 region that is significantly different in both PHP(Δstx16) and PHP(neg), as validated by Sequenom EpiTYPER in a larger PHP cohort. 26819647 2016
Entrez Id: 2778
Gene Symbol: GNAS
GNAS
0.700 GeneticVariation disease BEFREE A retrospective review of the medical records of children diagnosed by erythrocyte Gsα activity and/or GNAS1 gene study and followed-up for PHP type 1A. 27467896 2016
Entrez Id: 2778
Gene Symbol: GNAS
GNAS
0.700 GeneticVariation disease BEFREE Pseudohypoparathyroidism (PHP) is caused by a mutation within the GNAS gene or upstream of the GNAS complex locus. 26387561 2016
Entrez Id: 2778
Gene Symbol: GNAS
GNAS
0.700 GeneticVariation disease BEFREE Genetic and epigenetic alterations in the GNAS locus and clinical consequences in Pseudohypoparathyroidism: Italian common healthcare pathways adoption. 27871293 2016
Entrez Id: 2778
Gene Symbol: GNAS
GNAS
0.700 GeneticVariation disease BEFREE The term pseudohypoparathyroidism (PHP) was coined to describe the clinical condition resulting from end-organ resistance to parathormone (rPTH), caused by genetic and/or epigenetic alterations within or upstream of GNAS. 27428667 2016
Entrez Id: 2778
Gene Symbol: GNAS
GNAS
0.700 Biomarker disease BEFREE According to the growing knowledge on Gsα-cAMP signaling-linked disorders, we investigated our series of patients (n = 81) with a clinical diagnosis of PHP/AHO but negative for GNAS anomalies for the presence of novel genetic variants at PRKAR1A and PDE4D genes. 26763073 2016
Entrez Id: 2778
Gene Symbol: GNAS
GNAS
0.700 GeneticVariation disease BEFREE Despite the first description of this disorder dating back to 1942, later findings have unveiled complex epigenetic alterations in addition to classic mutations in GNAS underpining the molecular basis of the main subtypes of pseudohypoparathyroidism. 27109785 2016
Entrez Id: 2778
Gene Symbol: GNAS
GNAS
0.700 Biomarker disease BEFREE Almost all patients with PHHP have PHP Ib, a subtype of PHP that is usually caused by GNAS methylation defects, often in exon 1A. 26488942 2015
Entrez Id: 2778
Gene Symbol: GNAS
GNAS
0.700 GeneticVariation disease BEFREE European guidance for the molecular diagnosis of pseudohypoparathyroidism not caused by point genetic variants at GNAS: an EQA study. 25005735 2015
Entrez Id: 2778
Gene Symbol: GNAS
GNAS
0.700 GeneticVariation disease BEFREE Due to monoallelic expression, heterozygous GNAS mutations affecting either paternally or maternally derived transcripts cause different forms of pseudohypoparathyroidism (PHP), including autosomal-dominant PHP type Ib (AD-PHP1B) associated with loss of methylation (LOM) at exon A/B alone or sporadic PHP1B (sporPHP1B) associated with broad GNAS methylation changes. 25603460 2015
Entrez Id: 2778
Gene Symbol: GNAS
GNAS
0.700 AlteredExpression disease BEFREE Pseudohypoparathyroidism (PHP) is caused by reduced expression of genes within the GNAS cluster, resulting in parathormone resistance. 25005734 2015
Entrez Id: 2778
Gene Symbol: GNAS
GNAS
0.700 GeneticVariation disease BEFREE Novel microdeletions affecting the GNAS locus in pseudohypoparathyroidism: characterization of the underlying mechanisms. 25594858 2015
Entrez Id: 2778
Gene Symbol: GNAS
GNAS
0.700 GeneticVariation disease BEFREE Pseudohypoparathyroidism (PHP) is associated with compromised signal transductions via PTH receptor (PTH-R) and other G-protein-coupled receptors including GHRH-R. To date, while GH deficiency (GHD) has been reported in multiple patients with PHP-Ia caused by mutations on the maternally expressed GNAS coding regions and in two patients with sporadic form of PHP-Ib accompanied by broad methylation defects of maternally derived GNAS differentially methylated regions (DMRs), it has not been identified in a patient with an autosomal dominant form of PHP-Ib (AD-PHP-Ib) accompanied by an STX16 microdeletion and an isolated loss of methylation (LOM) at exon A/B-DMR. 25843330 2015
Entrez Id: 2778
Gene Symbol: GNAS
GNAS
0.700 PosttranslationalModification disease BEFREE Here we report a case of PHP caused by epigenetic changes in GNAS in a patient with congenital hypothyroidism. 25802348 2015
Entrez Id: 2778
Gene Symbol: GNAS
GNAS
0.700 GeneticVariation disease BEFREE Loss-of-function GNAS mutations lead to hormone resistance and Albright's hereditary osteodystrophy (AHO) when maternally inherited, i.e. pseudohypoparathyroidism-Ia (PHPIa), but cause AHO alone when located on the paternal allele, i.e. pseudoPHP (PPHP). 25464124 2015
Entrez Id: 2778
Gene Symbol: GNAS
GNAS
0.700 GeneticVariation disease BEFREE A sporadic case of pseudohypoparathyroidism type 1 and idiopathic primary adrenal insufficiency associated with a novel mutation in the GNAS1 gene. 25100368 2014
Entrez Id: 2778
Gene Symbol: GNAS
GNAS
0.700 AlteredExpression disease BEFREE Pseudohypoparathyroidism is a rare genetic disorder characterised by end-organ resistance to parathyroid hormone due to a defect of the guanine nucleotide-binding protein alpha that simulates activity of the polypeptide 1 (GNAS) gene. 24914079 2014