Source: GENOMICS_ENGLAND

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 81562
Gene Symbol: LMAN2L
LMAN2L
CUI: C0014544
Disease: Epilepsy
Epilepsy 		0.310 Biomarker GENOMICS_ENGLAND Whole exome sequencing (WES) of a trio, including a child with ID and epilepsy and its healthy parents that were part of this large family, revealed a homozygous missense variant p.R53Q in the lectin mannose-binding 2-like (LMAN2L) gene. 26566883

2016