Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 81562
Gene Symbol: LMAN2L
LMAN2L
0.310 Biomarker disease 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
Entrez Id: 81562
Gene Symbol: LMAN2L
LMAN2L
0.310 GeneticVariation disease BEFREE 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