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 CausalMutation disease CLINVAR GNAS mutations in Pseudohypoparathyroidism type 1a and related disorders. 25219572 2015
CUI: C0334041
Disease: Osteoma cutis
Osteoma cutis 		0.800 GeneticVariation disease BEFREE Genomic study revealed no GNAS mutation.He had POH and PHP Ia. 25894639 2015
CUI: C0334041
Disease: Osteoma cutis
Osteoma cutis 		0.800 Biomarker disease BEFREE Moreover, findings obtained in animal experiments support the assumption that human POH represents such superimposed segmental manifestation of GNAS inactivation disorders. 27058263 2016
CUI: C0334041
Disease: Osteoma cutis
Osteoma cutis 		0.800 GeneticVariation disease BEFREE Neonatal osteoma cutis due to a mutation in GNAS. 31215057 2019