NUP88, nucleoporin 88, 4927

N. diseases: 58; N. variants: 5
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 		0.410 GermlineCausalMutation disease ORPHANET Biallelic mutations in nucleoporin NUP88 cause lethal fetal akinesia deformation sequence. 30543681 2018
CUI: C1276035
Disease: Pena-Shokeir syndrome type I
Pena-Shokeir syndrome type I 		0.410 GeneticVariation disease BEFREE Together, our studies provide the first characterization of NUP88 in vertebrate development, expand our understanding of the molecular events causing FADS, and suggest that variants in NUP88 should be investigated in cases of FADS. 30543681 2018
CUI: C1276035
Disease: Pena-Shokeir syndrome type I
Pena-Shokeir syndrome type I 		0.410 Biomarker disease HPO