Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057516904
rs1057516904
MCOLN1
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		GA 0.700 CausalMutation CLINVAR MCOLN1 is a ROS sensor in lysosomes that regulates autophagy. 27357649

2016
dbSNP: rs1057516904
rs1057516904
MCOLN1
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		GA 0.700 CausalMutation CLINVAR Lysosomal physiology. 25668017

2015
dbSNP: rs1057516904
rs1057516904
MCOLN1
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		GA 0.700 CausalMutation CLINVAR Quantitative neuroimaging in mucolipidosis type IV. 24332805

2014
dbSNP: rs1057516904
rs1057516904
MCOLN1
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		GA 0.700 CausalMutation CLINVAR Noninvasive diagnosis and ophthalmic features of mucolipidosis type IV. 11874766

2002
dbSNP: rs1057516904
rs1057516904
MCOLN1
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		GA 0.700 CausalMutation CLINVAR The neurogenetics of mucolipidosis type IV. 12182165

2002
dbSNP: rs1057516904
rs1057516904
MCOLN1
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		GA 0.700 CausalMutation CLINVAR Carrier screening for mucolipidosis type IV in the American Ashkenazi Jewish population. 11845410

2002
dbSNP: rs1057516904
rs1057516904
MCOLN1
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		GA 0.700 CausalMutation CLINVAR Mucolipidosis type IV: novel MCOLN1 mutations in Jewish and non-Jewish patients and the frequency of the disease in the Ashkenazi Jewish population. 11317355

2001
dbSNP: rs1057516904
rs1057516904
MCOLN1
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		GA 0.700 CausalMutation CLINVAR Mucolipidosis type IV. 11461186

2001
dbSNP: rs1057516904
rs1057516904
MCOLN1
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		GA 0.700 CausalMutation CLINVAR Electroencephalographic findings in patients with mucolipidosis type IV. 9680151

1998
dbSNP: rs1057516904
rs1057516904
MCOLN1
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		GA 0.700 CausalMutation CLINVAR Mucolipidosis type IV: characteristic MRI findings. 9710036

1998
dbSNP: rs1057516904
rs1057516904
MCOLN1
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		GA 0.700 CausalMutation CLINVAR Constitutive achlorhydria in mucolipidosis type IV. 9448310

1998