MCOLN1, mucolipin 1, 57192

N. diseases: 102; N. variants: 40
Disease: Mucolipidoses ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0026697
Disease: Mucolipidoses
Mucolipidoses 		0.450 GeneticVariation disease BEFREE Mutations in TRPML1 cause mucolipidosis type IV and it has been implicated in Alzheimer's disease and HIV. 26009188 2015
CUI: C0026697
Disease: Mucolipidoses
Mucolipidoses 		0.450 CausalMutation disease CLINVAR High-throughput carrier screening using TaqMan allelic discrimination. 23555759 2013
CUI: C0026697
Disease: Mucolipidoses
Mucolipidoses 		0.450 Biomarker disease CTD_human Reconstitution of lysosomal NAADP-TRP-ML1 signaling pathway and its function in TRP-ML1(-/-) cells. 21613607 2011
CUI: C0026697
Disease: Mucolipidoses
Mucolipidoses 		0.450 Biomarker disease CTD_human Zinc dyshomeostasis is linked with the loss of mucolipidosis IV-associated TRPML1 ion channel. 20864526 2010
CUI: C0026697
Disease: Mucolipidoses
Mucolipidoses 		0.450 GeneticVariation disease BEFREE MLIV (mucolipidosis type IV) is a neurodegenerative lysosomal storage disorder caused by mutations in MCOLN1, a gene that encodes TRPML1 (mucolipin-1), a member of the TRPML (transient receptor potential mucolipin) cation channels. 21118102 2010
CUI: C0026697
Disease: Mucolipidoses
Mucolipidoses 		0.450 CausalMutation disease CLINVAR Development of genomic DNA reference materials for genetic testing of disorders common in people of ashkenazi jewish descent. 19815695 2009
CUI: C0026697
Disease: Mucolipidoses
Mucolipidoses 		0.450 CausalMutation disease CLINVAR Rapid one-step carrier detection assay of mucolipidosis IV mutations in the Ashkenazi Jewish population. 16645217 2006
CUI: C0026697
Disease: Mucolipidoses
Mucolipidoses 		0.450 Biomarker disease LHGDN The characterization of this MLN1-mediated Ca2+-dependent process should provide new insights into the pathophysiological mechanisms that lead to the development of MLIV and other mucolipidoses associated with similar disturbances in membrane trafficking. 15336987 2004
CUI: C0026697
Disease: Mucolipidoses
Mucolipidoses 		0.450 Biomarker disease LHGDN Carrier screening for mucolipidosis type IV in the American Ashkenazi Jewish population. 11845410 2002
CUI: C0026697
Disease: Mucolipidoses
Mucolipidoses 		0.450 CausalMutation disease CLINVAR Carrier screening for mucolipidosis type IV in the American Ashkenazi Jewish population. 11845410 2002
CUI: C0026697
Disease: Mucolipidoses
Mucolipidoses 		0.450 GeneticVariation disease LHGDN The molecular basis of mucolipidosis type IV. 12125810 2002
CUI: C0026697
Disease: Mucolipidoses
Mucolipidoses 		0.450 CausalMutation disease CLINVAR Identification of the gene causing mucolipidosis type IV. 10973263 2000