Disease: Mucolipidoses ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0026697
Disease: Mucolipidoses
Mucolipidoses 		0.130 GeneticVariation disease BEFREE Mutations in the GNPTAB and GNPTG genes cause mucolipidosis (ML) type II, type III alpha/beta, and type III gamma, which are autosomal recessively inherited lysosomal storage disorders. 30882951 2019
CUI: C0026697
Disease: Mucolipidoses
Mucolipidoses 		0.130 GeneticVariation disease BEFREE Mucolipidosis (ML) III gamma is a rare autosomal-recessive disorder caused by pathogenic mutations in the GNPTG gene. 26935170 2016
CUI: C0026697
Disease: Mucolipidoses
Mucolipidoses 		0.130 GeneticVariation disease BEFREE Although mutations in NAGPA have not been associated with a disorder in humans, mutations in GNPTAB and GNPTG cause mucolipidosis types II and III, which are rare autosomal recessive lysosomal storage disorders, associated with pathology of bone, connective tissue, liver, spleen, and brain. 22884963 2012
CUI: C0026697
Disease: Mucolipidoses
Mucolipidoses 		0.130 GeneticVariation disease CLINVAR