AGRN, agrin, 375790

N. diseases: 124; N. variants: 11
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 		0.010 Biomarker disease BEFREE To the best of our knowledge, this is the first case of FADS caused by defects in AGRN gene. 31730230 2020