GNAS, GNAS complex locus, 2778

N. diseases: 536; N. variants: 61
Disease: Obesity ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0028754
Disease: Obesity
Obesity 		0.490 GeneticVariation disease BEFREE Inactivating mutations in Gsα-coding GNAS exons are responsible for Albright's hereditary osteodystrophy (AHO), which refers to a constellation of physical and developmental disorders including obesity, short stature, brachydactyly, cognitive impairment, and heterotopic ossification. 28889026 2018
CUI: C0028754
Disease: Obesity
Obesity 		0.490 Biomarker disease BEFREE Consequently, early diagnosis and close follow-up is needed in patients with GNAS defects to screen and intervene in case of early-onset obesity and decreased growth velocity.© 2018 The Authors. 29693731 2018
CUI: C0028754
Disease: Obesity
Obesity 		0.490 Biomarker disease BEFREE Importantly, GNAS methylation abnormalities escape detection by targeted or genome-wide sequencing strategies, raising the question of whether epigenetic GNAS analyses should be considered for unexplained obesity. 28453643 2017
CUI: C0028754
Disease: Obesity
Obesity 		0.490 GeneticVariation disease BEFREE We identified 52 variants contributing to obesity in 2% of cases including multiple novel variants in GNAS, which were sometimes found with accelerated growth rather than short stature as described previously. 28663568 2017
CUI: C0028754
Disease: Obesity
Obesity 		0.490 GeneticVariation disease BEFREE PHP type 1A includes multihormone resistance syndrome, Albright's hereditary osteodystrophy, and obesity and is caused by mutations in GNAS exon 1 through 13. 25802348 2015
CUI: C0028754
Disease: Obesity
Obesity 		0.490 GeneticVariation disease BEFREE Heterozygous mutations in the coding sequence of GNAS produce dominant phenotypes (combination of resistances to hormones signaling through G-protein-coupled receptors, osteodystrophy and obesity) that depend on the parental origin of the mutated allele. 23548772 2013
CUI: C0028754
Disease: Obesity
Obesity 		0.490 Biomarker disease CTD_human To understand genetic determinants of androgen excess, insulin resistance, and obesity in polycystic ovary syndrome (PCOS), we investigated the effect of the common GNAS1 T393C polymorphism on the phenotype of German PCOS women. 17062894 2006
CUI: C0028754
Disease: Obesity
Obesity 		0.490 GeneticVariation disease BEFREE To understand genetic determinants of androgen excess, insulin resistance, and obesity in polycystic ovary syndrome (PCOS), we investigated the effect of the common GNAS1 T393C polymorphism on the phenotype of German PCOS women. 17062894 2006
CUI: C0028754
Disease: Obesity
Obesity 		0.490 GeneticVariation disease BEFREE Both the gene encoding the alpha subunit of G stimulatory proteins (GNAS1) and the beta3 subunit gene (GNB3) of G proteins are associated with obesity and/or hypertension. 15531240 2004
CUI: C0028754
Disease: Obesity
Obesity 		0.490 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: C0028754
Disease: Obesity
Obesity 		0.490 CausalMutation disease CLINVAR
CUI: C0028754
Disease: Obesity
Obesity 		0.490 Biomarker disease HPO