Disease: NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE V ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs879253928
rs879253928
Entrez Id: 2785;26580;100534595
Gene Symbol: GNG3;BSCL2;HNRNPUL2-BSCL2
GNG3;BSCL2;HNRNPUL2-BSCL2
CUI: C1833308
Disease:
NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE V 		0.010 GeneticVariation BEFREE Heterozygosity for mutations (N88S and P90L) in the N-glycosylation site of seipin/BSCL2 is associated with the autosomal dominant motor neuron diseases, spastic paraplegia 17 and distal hereditary motor neuropathy type V, referred to as 'seipinopathies'. 21750110 2011