GNAS, GNAS complex locus, 2778

N. diseases: 536; N. variants: 61
Disease: Osteodystrophy ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0264009
Disease: Osteodystrophy
Osteodystrophy 		0.020 GeneticVariation disease BEFREE Heterozygous mutations in the coding sequence of GNAS produce dominant phenotypes (combination of resistances to hormones signaling through G-protein-coupled receptors, osteodystrophy and obesity) that depend on the parental origin of the mutated allele. 23548772 2013
CUI: C0264009
Disease: Osteodystrophy
Osteodystrophy 		0.020 GeneticVariation disease BEFREE Null mutations of GNAS1 cause pseudohypoparathyroidism (PHP) type Ia, in which hormone resistance occurs in association with a characteristic osteodystrophy. 9707596 1998