GNAS, GNAS complex locus, 2778

N. diseases: 536; N. variants: 61
Disease: Fetal Growth Retardation ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0015934
Disease: Fetal Growth Retardation
Fetal Growth Retardation 		0.030 GeneticVariation phenotype BEFREE Similar to effects other imprinted genes have on early development, we recently observed severe intrauterine growth retardation in newborns, later diagnosed with pseudopseudohypoparathyroidism (PPHP) because of paternal GNAS loss-of-function mutations. 25603460 2015
CUI: C0015934
Disease: Fetal Growth Retardation
Fetal Growth Retardation 		0.030 GeneticVariation phenotype BEFREE Heterozygous GNAS mutations on either parental allele were associated with IUGR. 23884777 2013
CUI: C0015934
Disease: Fetal Growth Retardation
Fetal Growth Retardation 		0.030 GeneticVariation phenotype BEFREE The patient displayed no other laboratory or physical abnormalities to suggest other GNAS-associated disorders of cutaneous ossification, including Albright's hereditary osteodystrophy or pseudohypoparathyroidism 1A, although a history of intrauterine growth restriction was troubling for progressive osseous heteroplasia. 22612068 2012