Source: CURATED

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2778
Gene Symbol: GNAS
GNAS
CUI: C0334041
Disease: Osteoma cutis
Osteoma cutis 		0.800 GermlineCausalMutation ORPHANET Paternal origin of GNAS mutations was clearly demonstrated in eight POH cases including one patient with mutation in exon 1. 20427508

2010
Entrez Id: 2778
Gene Symbol: GNAS
GNAS
CUI: C0334041
Disease: Osteoma cutis
Osteoma cutis 		0.800 GermlineCausalMutation ORPHANET We present an unusual case of a boy with clinical features of both POH and PHP Ia, and a GNAS inactivating mutation. 17321228

2007
Entrez Id: 2778
Gene Symbol: GNAS
GNAS
CUI: C0334041
Disease: Osteoma cutis
Osteoma cutis 		0.800 GeneticVariation UNIPROT With only nine mutations of the GNAS1 gene reported so far in progressive osseous heteroplasia, this new mutation helps to extend further the genotype-phenotype correlation. 14723729

2004
Entrez Id: 2778
Gene Symbol: GNAS
GNAS
CUI: C0334041
Disease: Osteoma cutis
Osteoma cutis 		0.800 GermlineCausalMutation ORPHANET With only nine mutations of the GNAS1 gene reported so far in progressive osseous heteroplasia, this new mutation helps to extend further the genotype-phenotype correlation. 14723729

2004
Entrez Id: 2778
Gene Symbol: GNAS
GNAS
CUI: C0334041
Disease: Osteoma cutis
Osteoma cutis 		0.800 Biomarker CTD_human

Entrez Id: 2778
Gene Symbol: GNAS
GNAS
CUI: C0334041
Disease: Osteoma cutis
Osteoma cutis 		0.800 Biomarker GENOMICS_ENGLAND