CLCN2, chloride voltage-gated channel 2, 1181

N. diseases: 67; N. variants: 30
Disease: Leukoencephalopathy ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0270612
Disease: Leukoencephalopathy
Leukoencephalopathy 		0.150 AlteredExpression group BEFREE GlialCAM expression affects expression of MLC1, ClC-2 and aquaporin4, indicating that abnormal interplay between these proteins is a disease mechanism in megalencephalic leukoencephalopathy with cysts. 28695146 2017
CUI: C0270612
Disease: Leukoencephalopathy
Leukoencephalopathy 		0.150 Biomarker group BEFREE Depolarization causes the formation of a ternary complex between GlialCAM, MLC1 and ClC-2 in astrocytes: implications in megalencephalic leukoencephalopathy. 28398517 2017
CUI: C0270612
Disease: Leukoencephalopathy
Leukoencephalopathy 		0.150 GeneticVariation group BEFREE Mutations in CLCN2 have been recently identified in patients suffering from a type of leukoencephalopathy involving intramyelinic oedema. 28905383 2017
CUI: C0270612
Disease: Leukoencephalopathy
Leukoencephalopathy 		0.150 Biomarker group BEFREE Defects in the astrocytic membrane protein MLC1, the adhesion molecule GlialCAM or the chloride channel ClC-2 underlie human leukoencephalopathies. 24647135 2014
CUI: C0270612
Disease: Leukoencephalopathy
Leukoencephalopathy 		0.150 GeneticVariation group BEFREE Autosomal-recessive CLCN2 mutations cause a leukoencephalopathy that belongs to an emerging group of disorders affecting brain ion and water homoeostasis and characterised by intramyelinic oedema. 23707145 2013
CUI: C0270612
Disease: Leukoencephalopathy
Leukoencephalopathy 		0.150 Biomarker group HPO