MEST, mesoderm specific transcript, 4232

N. diseases: 59; N. variants: 2
Disease: Russell-Silver syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0175693
Disease: Russell-Silver syndrome
Russell-Silver syndrome 		0.060 GeneticVariation disease BEFREE However, several observations indicate that molecular alterations of the genomically imprinted MEST region in 7q32.2 are associated with growth retardation and a phenotype reminiscent to SRS. 26663145 2016
CUI: C0175693
Disease: Russell-Silver syndrome
Russell-Silver syndrome 		0.060 GeneticVariation disease BEFREE The exclusion of isolated imprinting defects in our study population shows that this type of epimutation at the PEG1/MEST locus in 7q31 does not play a relevant role in SRS. 18585117 2008
CUI: C0175693
Disease: Russell-Silver syndrome
Russell-Silver syndrome 		0.060 GeneticVariation disease BEFREE Silver-Russell syndrome in a girl born after in vitro fertilization: partial hypermethylation at the differentially methylated region of PEG1/MEST. 17450433 2007
CUI: C0175693
Disease: Russell-Silver syndrome
Russell-Silver syndrome 		0.060 Biomarker disease BEFREE As a Silver-Russell syndrome (SRS) locus has been proposed to be located to a region near MEST and to be involved in imprinting, CPA4 would have been a candidate gene for SRS. 12552318 2003
CUI: C0175693
Disease: Russell-Silver syndrome
Russell-Silver syndrome 		0.060 Biomarker disease BEFREE These findings suggest that PEG1/MEST can be excluded as a major determinant of SRS. 11754049 2001
CUI: C0175693
Disease: Russell-Silver syndrome
Russell-Silver syndrome 		0.060 Biomarker disease BEFREE These findings strongly argue against a role of PEG1/MEST in the majority of Silver-Russell syndrome cases. 9781054 1998