NEU1, neuraminidase 1, 4758

N. diseases: 207; N. variants: 28
Disease: Hydrops fetalis (type II, congenital) ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2673285
Disease: Hydrops fetalis (type II, congenital)
Hydrops fetalis (type II, congenital) 		0.300 Biomarker phenotype GENOMICS_ENGLAND Prenatal diagnosis and fetal pathology in a Turkish family harboring a novel nonsense mutation in the lysosomal alpha-N-acetyl-neuraminidase (sialidase) gene. 11702224 2001