Gene: SLC52A2 ×
Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 79581
Gene Symbol: SLC52A2
SLC52A2 		0.020 GeneticVariation disease BEFREE Here, we report on a Japanese male infant with mild manifestations of LMD and hitherto unreported microdeletions in PAR1. 24311385 2014
Entrez Id: 79581
Gene Symbol: SLC52A2
SLC52A2 		0.020 GeneticVariation disease BEFREE The LMD proband described here represents the first LMD case due to compound heterozygosity for deletions of the two different PAR1 regions, SHOX-encompassing and downstream from SHOX, that have been shown to be implicated in the pathogenesis of LWD and LMD. 17394206 2007