NEB, nebulin, 4703

N. diseases: 148; N. variants: 280
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 In conclusion, our report adds further evidence for the involvement of the nebulin gene in the etiology of fetal akinesia deformation sequence/lethal multiple pterygium syndrome. 28336317 2017
CUI: C1276035
Disease: Pena-Shokeir syndrome type I
Pena-Shokeir syndrome type I 		0.120 Biomarker disease BEFREE Currently, mutated NEB is under-recognized as a cause for AMC/FADS. 27933661 2017
CUI: C1276035
Disease: Pena-Shokeir syndrome type I
Pena-Shokeir syndrome type I 		0.120 Biomarker disease HPO