Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs281875309
rs281875309
MLC1
0.810 GeneticVariation UNIPROT Megalencephalic leukoencephalopathy with subcortical cysts protein 1 functionally cooperates with the TRPV4 cation channel to activate the response of astrocytes to osmotic stress: dysregulation by pathological mutations. 22328087

2012
dbSNP: rs281875309
rs281875309
MLC1
0.810 GeneticVariation BEFREE For this purpose, we analyzed a human post-mortem brain obtained from an MLC patient, who was homozygous for a missense mutation (S69L) in MLC1. 21624973

2011
dbSNP: rs281875309
rs281875309
MLC1
0.810 GeneticVariation UNIPROT Megalencephalic leukoencephalopathy with subcortical cysts: an update and extended mutation analysis of MLC1. 16652334

2006
dbSNP: rs281875309
rs281875309
MLC1
0.810 GeneticVariation UNIPROT Megalencephalic leukoencephalopathy with subcortical cysts; a founder effect in Israeli patients and a higher than expected carrier rate among Libyan Jews. 12189496

2002
dbSNP: rs281875309
rs281875309
MLC1
0.810 GeneticVariation UNIPROT Identification of novel mutations in MLC1 responsible for megalencephalic leukoencephalopathy with subcortical cysts. 11935341

2002
dbSNP: rs281875309
rs281875309
MLC1
0.810 GeneticVariation UNIPROT Mutations of MLC1 (KIAA0027), encoding a putative membrane protein, cause megalencephalic leukoencephalopathy with subcortical cysts. 11254442

2001
dbSNP: rs281875309
rs281875309
MLC1
A 0.810 CausalMutation CLINVAR