MCOLN1, mucolipin 1, 57192

N. diseases: 102; N. variants: 40
Disease: Type I Mucolipidosis ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0268226
Disease: Type I Mucolipidosis
Type I Mucolipidosis 		0.300 Biomarker disease CTD_human Reconstitution of lysosomal NAADP-TRP-ML1 signaling pathway and its function in TRP-ML1(-/-) cells. 21613607 2011
CUI: C0268226
Disease: Type I Mucolipidosis
Type I Mucolipidosis 		0.300 Biomarker disease CTD_human Zinc dyshomeostasis is linked with the loss of mucolipidosis IV-associated TRPML1 ion channel. 20864526 2010