Source: GENOMICS_ENGLAND

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 124454
Gene Symbol: EARS2
EARS2
CUI: C0014544
Disease: Epilepsy
Epilepsy 		0.300 Biomarker GENOMICS_ENGLAND Leukoencephalopathy with thalamus and brainstem involvement and high lactate 'LTBL' caused by EARS2 mutations. 22492562

2012