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: C0242292
Disease: McCune-Albright Syndrome
McCune-Albright Syndrome 		0.800 CausalMutation CLINVAR Quantitative and sensitive detection of GNAS mutations causing mccune-albright syndrome with next generation sequencing. 23536913

2013
Entrez Id: 2778
Gene Symbol: GNAS
GNAS
CUI: C0242292
Disease: McCune-Albright Syndrome
McCune-Albright Syndrome 		0.800 CausalMutation CLINVAR A sensitive mutation-specific screening technique for GNAS1 mutations in cases of fibrous dysplasia: the first report of a codon 227 mutation in bone. 17493233

2007
Entrez Id: 2778
Gene Symbol: GNAS
GNAS
CUI: C0242292
Disease: McCune-Albright Syndrome
McCune-Albright Syndrome 		0.800 CausalMutation CLINVAR Activating Gsalpha mutations: analysis of 113 patients with signs of McCune-Albright syndrome--a European Collaborative Study. 15126527

2004
Entrez Id: 2778
Gene Symbol: GNAS
GNAS
CUI: C0242292
Disease: McCune-Albright Syndrome
McCune-Albright Syndrome 		0.800 GeneticVariation CLINVAR Selective resistance to parathyroid hormone caused by a novel uncoupling mutation in the carboxyl terminus of G alpha(s). A cause of pseudohypoparathyroidism type Ib. 11029463

2001
Entrez Id: 2778
Gene Symbol: GNAS
GNAS
CUI: C0242292
Disease: McCune-Albright Syndrome
McCune-Albright Syndrome 		0.800 GeneticVariation CLINVAR Clinical implications of genetic defects in G proteins. The molecular basis of McCune-Albright syndrome and Albright hereditary osteodystrophy. 8699958

1996