LGALS14, galectin 14, 56891

N. diseases: 35; N. variants: 1
Disease: Leukodystrophy ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0023520
Disease: Leukodystrophy
Leukodystrophy 		0.030 Biomarker disease BEFREE GlialCAM, a regulatory subunit of ClC-2 in glial cells and involved in the leukodystrophy megalencephalic leukoencephalopathy with subcortical cysts (MLC), increases the activity of a ClC-2 mutant by affecting ClC-2 gating and by stabilising the mutant at the plasma membrane. 28905383 2017
CUI: C0023520
Disease: Leukodystrophy
Leukodystrophy 		0.030 Biomarker disease BEFREE Mutations in the genes encoding the astrocytic protein MLC1, the cell adhesion molecule GlialCAM or the Cl(-) channel ClC-2 underlie human leukodystrophies. 26033718 2015
CUI: C0023520
Disease: Leukodystrophy
Leukodystrophy 		0.030 Biomarker disease BEFREE Disrupting MLC1 and GlialCAM and ClC-2 interactions in leukodystrophy entails glial chloride channel dysfunction. 24647135 2014