Disease: Mucolipidoses ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0026697
Disease: Mucolipidoses
Mucolipidoses 		0.020 GeneticVariation disease BEFREE Generation of novel induced pluripotent stem cell (iPSC) line from a 16-year-old sialidosis patient with NEU-1 gene mutation. 29414417 2018
CUI: C0026697
Disease: Mucolipidoses
Mucolipidoses 		0.020 GeneticVariation disease BEFREE Sialidosis (McKusick 256550) is an autosomal recessive disorder resulting from mutations in the NEU gene, located in 6p21.3, which leads to deficiency of alpha-N-acetyl neuraminidase (sialidase) activity, causing an accumulation of its substrates, oligosaccharides, in the lysosomes of various organs and tissues and an increased presence in urine and other organic fluids. 12522793 2003