GBE1, 1,4-alpha-glucan branching enzyme 1, 2632

N. diseases: 102; N. variants: 48
Disease: Fetal hydrops (in perinatal or congenital neuromuscular forms) ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1856309
Disease: Fetal hydrops (in perinatal or congenital neuromuscular forms)
Fetal hydrops (in perinatal or congenital neuromuscular forms) 		0.300 Biomarker phenotype GENOMICS_ENGLAND Lysosomal storage disorder in non-immunological hydrops fetalis (NIHF): more common than assumed? Report of four cases with transient NIHF and a review of the literature. 23137060 2012