Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 23209
Gene Symbol: MLC1
MLC1
CUI: C1858854
Disease: MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS
MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 		1.000 GeneticVariation CLINVAR A case of megalencephalic leukoencephalopathy with subcortical cysts type 1 was identified with a novel compound heterozygous alteration (c.135delC; c.423+2dupT) in China. 28588848

2017
Entrez Id: 23209
Gene Symbol: MLC1
MLC1
CUI: C1858854
Disease: MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS
MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 		1.000 GeneticVariation CLINVAR Ten Novel Mutations in Chinese Patients with Megalencephalic Leukoencephalopathy with Subcortical Cysts and a Long-Term Follow-Up Research. 27322623

2016
Entrez Id: 23209
Gene Symbol: MLC1
MLC1
CUI: C1858854
Disease: MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS
MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 		1.000 CausalMutation CLINVAR Eight novel mutations in MLC1 from 18 Iranian patients with megalencephalic leukoencephalopathy with subcortical cysts. 25497041

2015
Entrez Id: 23209
Gene Symbol: MLC1
MLC1
CUI: C1858854
Disease: MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS
MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 		1.000 CausalMutation CLINVAR MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS WITH HOMOZYGOUS MUTATION (C.448DELC, P.LEU150 SER FSX11) ON EXON 6 OF MLC1 GENE. 26349194

2015
Entrez Id: 23209
Gene Symbol: MLC1
MLC1
CUI: C1858854
Disease: MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS
MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 		1.000 GeneticVariation CLINVAR Eight novel mutations in MLC1 from 18 Iranian patients with megalencephalic leukoencephalopathy with subcortical cysts. 25497041

2015
Entrez Id: 23209
Gene Symbol: MLC1
MLC1
CUI: C1858854
Disease: MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS
MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 		1.000 CausalMutation CLINVAR Molecular prenatal diagnosis of megalencephalic leukoencephalopathy with subcortical cysts in a child from southwest of Iran. 25767710

2015
Entrez Id: 23209
Gene Symbol: MLC1
MLC1
CUI: C1858854
Disease: MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS
MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 		1.000 GeneticVariation CLINVAR MLC1 mutations in Japanese patients with megalencephalic leukoencephalopathy with subcortical cysts. 27081509

2014
Entrez Id: 23209
Gene Symbol: MLC1
MLC1
CUI: C1858854
Disease: MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS
MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 		1.000 GeneticVariation CLINVAR Monocytes and macrophages as biomarkers for the diagnosis of megalencephalic leukoencephalopathy with subcortical cysts. 23851226

2013
Entrez Id: 23209
Gene Symbol: MLC1
MLC1
CUI: C1858854
Disease: MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS
MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 		1.000 GeneticVariation CLINVAR Insights into MLC pathogenesis: GlialCAM is an MLC1 chaperone required for proper activation of volume-regulated anion currents. 23793458

2013
Entrez Id: 23209
Gene Symbol: MLC1
MLC1
CUI: C1858854
Disease: MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS
MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 		1.000 GeneticVariation CLINVAR Functional studies of MLC1 mutations in Chinese patients with megalencephalic leukoencephalopathy with subcortical cysts. 22416245

2012
Entrez Id: 23209
Gene Symbol: MLC1
MLC1
CUI: C1858854
Disease: MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS
MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 		1.000 GeneticVariation CLINVAR GlialCAM, a protein defective in a leukodystrophy, serves as a ClC-2 Cl(-) channel auxiliary subunit. 22405205

2012
Entrez Id: 23209
Gene Symbol: MLC1
MLC1
CUI: C1858854
Disease: MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS
MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 		1.000 GeneticVariation CLINVAR Megalencephalic leucoencephalopathy with cysts: defect in chloride currents and cell volume regulation. 22006981

2011
Entrez Id: 23209
Gene Symbol: MLC1
MLC1
CUI: C1858854
Disease: MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS
MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 		1.000 GeneticVariation CLINVAR Novel mutations of the MLC1 gene in Turkish patients. 21145992

2011
Entrez Id: 23209
Gene Symbol: MLC1
MLC1
CUI: C1858854
Disease: MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS
MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 		1.000 GeneticVariation CLINVAR Molecular genetic studies in Indian patients with megalencephalic leukoencephalopathy. 21555057

2011
Entrez Id: 23209
Gene Symbol: MLC1
MLC1
CUI: C1858854
Disease: MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS
MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 		1.000 CausalMutation CLINVAR Megalencephalic leucoencephalopathy with cysts: defect in chloride currents and cell volume regulation. 22006981

2011
Entrez Id: 23209
Gene Symbol: MLC1
MLC1
CUI: C1858854
Disease: MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS
MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 		1.000 GeneticVariation CLINVAR Identification of novel MLC1 mutations in Chinese patients with megalencephalic leukoencephalopathy with subcortical cysts (MLC). 21160490

2011
Entrez Id: 23209
Gene Symbol: MLC1
MLC1
CUI: C1858854
Disease: MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS
MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 		1.000 CausalMutation CLINVAR Novel mutations of the MLC1 gene in Turkish patients. 21145992

2011
Entrez Id: 23209
Gene Symbol: MLC1
MLC1
CUI: C1858854
Disease: MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS
MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 		1.000 GeneticVariation CLINVAR Megalencephalic leukoencephalopathy with subcortical cysts in a Tunisian boy. 19168821

2009
Entrez Id: 23209
Gene Symbol: MLC1
MLC1
CUI: C1858854
Disease: MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS
MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 		1.000 GeneticVariation CLINVAR Molecular pathogenesis of megalencephalic leukoencephalopathy with subcortical cysts: mutations in MLC1 cause folding defects. 18757878

2008
Entrez Id: 23209
Gene Symbol: MLC1
MLC1
CUI: C1858854
Disease: MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS
MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 		1.000 GeneticVariation CLINVAR Vacuolating megalencephalic leukoencephalopathy with subcortical cysts: functional studies of novel variants in MLC1. 16470554

2006
Entrez Id: 23209
Gene Symbol: MLC1
MLC1
CUI: C1858854
Disease: MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS
MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 		1.000 GeneticVariation CLINVAR Several of the families, in which no mutations are found, also do not show linkage with the MLC1 locus, which suggests a second gene involved in MLC. 16652334

2006
Entrez Id: 23209
Gene Symbol: MLC1
MLC1
CUI: C1858854
Disease: MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS
MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 		1.000 CausalMutation CLINVAR Vacuolating megalencephalic leukoencephalopathy with subcortical cysts: functional studies of novel variants in MLC1. 16470554

2006
Entrez Id: 23209
Gene Symbol: MLC1
MLC1
CUI: C1858854
Disease: MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS
MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 		1.000 GeneticVariation CLINVAR Localization and functional analyses of the MLC1 protein involved in megalencephalic leukoencephalopathy with subcortical cysts. 15367490

2004
Entrez Id: 23209
Gene Symbol: MLC1
MLC1
CUI: C1858854
Disease: MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS
MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 		1.000 CausalMutation CLINVAR Megalencephalic leukoencephalopathy with subcortical cysts. 14572144

2003
Entrez Id: 23209
Gene Symbol: MLC1
MLC1
CUI: C1858854
Disease: MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS
MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 		1.000 GeneticVariation CLINVAR Genetic heterogeneity of megalencephalic leukoencephalopathy and subcortical cysts. 12939431

2003