GLE1, GLE1 RNA export mediator, 2733

N. diseases: 93; N. variants: 7
Disease: Pena-Shokeir syndrome type I ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1276035
Disease: Pena-Shokeir syndrome type I
Pena-Shokeir syndrome type I 		0.120 Biomarker disease BEFREE Recurrence of specific mutations or affected genes in different studies was rare (e.g.DYNC2H1, KIF14, RYR1 and GLE1) however genes involved in cell division, cilia function or fetal movement were frequently identified as candidates, the later possibly reflecting the fact that a large number of studied cases had features of fetal akinesia deformation sequence (FADS). 30991114 2020
CUI: C1276035
Disease: Pena-Shokeir syndrome type I
Pena-Shokeir syndrome type I 		0.120 GeneticVariation disease BEFREE Biallelic GLE1 and RYR1 disease-causing variants have been described in other cases with fetal akinesia syndrome. 24961629 2015
CUI: C1276035
Disease: Pena-Shokeir syndrome type I
Pena-Shokeir syndrome type I 		0.120 Biomarker disease HPO