GNAS, GNAS complex locus, 2778

N. diseases: 536; N. variants: 61
Disease: Osteoma cutis ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0334041
Disease: Osteoma cutis
Osteoma cutis 		0.800 GeneticVariation disease BEFREE These findings document severe heterotopic ossification in the absence of AHO features caused by an inactivating GNAS1 mutation and establish the GNAS1 gene as the leading candidate gene for POH. 11092389 2000
CUI: C0334041
Disease: Osteoma cutis
Osteoma cutis 		0.800 Biomarker disease CTD_human
CUI: C0334041
Disease: Osteoma cutis
Osteoma cutis 		0.800 Biomarker disease HPO
CUI: C0334041
Disease: Osteoma cutis
Osteoma cutis 		0.800 Biomarker disease GENOMICS_ENGLAND