rs1422329310, PLCE1

N. diseases: 2
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
MELAS Syndrome
CUI: C0162671
Disease: MELAS Syndrome
0.010 GeneticVariation BEFREE We also screened for the mitochondrial A3243G DNA transition associated with the MELAS syndrome (mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes), and occasionally FSGS. 18443213 2008
Focal glomerulosclerosis
CUI: C0017668
Disease: Focal glomerulosclerosis
0.010 GeneticVariation BEFREE We also screened for the mitochondrial A3243G DNA transition associated with the MELAS syndrome (mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes), and occasionally FSGS. 18443213 2008