Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2778
Gene Symbol: GNAS
GNAS
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.100 GeneticVariation CLINVAR Clinical genomics expands the morbid genome of intellectual disability and offers a high diagnostic yield. 27431290

2017
Entrez Id: 2778
Gene Symbol: GNAS
GNAS
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.100 GeneticVariation 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
Entrez Id: 2778
Gene Symbol: GNAS
GNAS
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.100 GeneticVariation CLINVAR Pseudohypoparathyroidism type Ia and pseudo-pseudohypoparathyroidism: the growing spectrum of GNAS inactivating mutations. 23281139

2013
Entrez Id: 2778
Gene Symbol: GNAS
GNAS
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.100 GeneticVariation CLINVAR Paternal GNAS mutations lead to severe intrauterine growth retardation (IUGR) and provide evidence for a role of XLαs in fetal development. 23884777

2013
Entrez Id: 2778
Gene Symbol: GNAS
GNAS
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.100 GeneticVariation CLINVAR Compound heterozygous mutations in the GNAS gene of a boy with morbid obesity, thyroid-stimulating hormone resistance, pseudohypoparathyroidism, and a prothrombotic state. 18796523

2008
Entrez Id: 2778
Gene Symbol: GNAS
GNAS
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.100 GeneticVariation CLINVAR Mutations in the Gs alpha gene causing hormone resistance. 17161328

2006
Entrez Id: 2778
Gene Symbol: GNAS
GNAS
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.100 GeneticVariation CLINVAR Autosomal dominant pseudohypoparathyroidism type Ib is associated with a heterozygous microdeletion that likely disrupts a putative imprinting control element of GNAS. 14561710

2003
Entrez Id: 2778
Gene Symbol: GNAS
GNAS
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.100 GeneticVariation CLINVAR Analysis of the GNAS1 gene in Albright's hereditary osteodystrophy. 11600516

2001
Entrez Id: 2778
Gene Symbol: GNAS
GNAS
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.100 GeneticVariation CLINVAR Activating and inactivating mutations in the human GNAS1 gene. 10980525

2000
Entrez Id: 2778
Gene Symbol: GNAS
GNAS
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.100 GeneticVariation CLINVAR Imprinting in Albright's hereditary osteodystrophy. 8383205

1993