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: C0221357
Disease: Brachydactyly
Brachydactyly 		0.450 GeneticVariation CLINVAR

Entrez Id: 2778
Gene Symbol: GNAS
GNAS
CUI: C0221357
Disease: Brachydactyly
Brachydactyly 		0.450 CausalMutation CLINVAR

Entrez Id: 2778
Gene Symbol: GNAS
GNAS
CUI: C0206724
Disease: Sex Cord-Stromal Tumor
Sex Cord-Stromal Tumor 		0.400 CausalMutation CLINVAR

Entrez Id: 2778
Gene Symbol: GNAS
GNAS
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.200 GeneticVariation CLINVAR Prospective enterprise-level molecular genotyping of a cohort of cancer patients. 25157968

2014
Entrez Id: 2778
Gene Symbol: GNAS
GNAS
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.200 GeneticVariation CLINVAR GNAS-activating mutations define a rare subgroup of inflammatory liver tumors characterized by STAT3 activation. 21835143

2012
Entrez Id: 2778
Gene Symbol: GNAS
GNAS
CUI: C0020598
Disease: Hypocalcemia
Hypocalcemia 		0.150 CausalMutation CLINVAR

Entrez Id: 2778
Gene Symbol: GNAS
GNAS
CUI: C0020598
Disease: Hypocalcemia
Hypocalcemia 		0.150 GeneticVariation CLINVAR

Entrez Id: 2778
Gene Symbol: GNAS
GNAS
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		0.130 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
Entrez Id: 2778
Gene Symbol: GNAS
GNAS
CUI: C0020676
Disease: Hypothyroidism
Hypothyroidism 		0.130 GeneticVariation CLINVAR

Entrez Id: 2778
Gene Symbol: GNAS
GNAS
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder) 		0.120 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
Entrez Id: 2778
Gene Symbol: GNAS
GNAS
CUI: C0006664
Disease: Calcinosis cutis
Calcinosis cutis 		0.110 GeneticVariation CLINVAR

Entrez Id: 2778
Gene Symbol: GNAS
GNAS
CUI: C0206686
Disease: Adrenocortical carcinoma
Adrenocortical carcinoma 		0.110 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
Entrez Id: 2778
Gene Symbol: GNAS
GNAS
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		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: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		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: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 GeneticVariation CLINVAR Activating and inactivating mutations in the human GNAS1 gene. 10980525

2000
Entrez Id: 2778
Gene Symbol: GNAS
GNAS
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		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: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		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: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 GeneticVariation CLINVAR Imprinting in Albright's hereditary osteodystrophy. 8383205

1993
Entrez Id: 2778
Gene Symbol: GNAS
GNAS
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		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: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		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: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 GeneticVariation CLINVAR Mutations in the Gs alpha gene causing hormone resistance. 17161328

2006
Entrez Id: 2778
Gene Symbol: GNAS
GNAS
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 GeneticVariation CLINVAR Analysis of the GNAS1 gene in Albright's hereditary osteodystrophy. 11600516

2001
Entrez Id: 2778
Gene Symbol: GNAS
GNAS
CUI: C0002418
Disease: Amblyopia
Amblyopia 		0.100 GeneticVariation CLINVAR

Entrez Id: 2778
Gene Symbol: GNAS
GNAS
CUI: C0004096
Disease: Asthma
Asthma 		0.100 GeneticVariation CLINVAR

Entrez Id: 2778
Gene Symbol: GNAS
GNAS
CUI: C0006009
Disease: Borderline intellectual disability
Borderline intellectual disability 		0.100 GeneticVariation CLINVAR