Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs137852848
rs137852848
SUMF1
0.800 GeneticVariation UNIPROT Clinical genetics evaluation in identifying the etiology of autism spectrum disorders: 2013 guideline revisions. 23519317

2013
dbSNP: rs137852848
rs137852848
SUMF1
0.800 GeneticVariation UNIPROT SUMF1 mutations affecting stability and activity of formylglycine generating enzyme predict clinical outcome in multiple sulfatase deficiency. 21224894

2011
dbSNP: rs137852848
rs137852848
SUMF1
0.800 GeneticVariation UNIPROT Molecular analysis of SUMF1 mutations: stability and residual activity of mutant formylglycine-generating enzyme determine disease severity in multiple sulfatase deficiency. 18157819

2008
dbSNP: rs137852848
rs137852848
SUMF1
0.800 GeneticVariation UNIPROT Molecular and functional analysis of SUMF1 mutations in multiple sulfatase deficiency. 15146462

2004
dbSNP: rs137852848
rs137852848
SUMF1
0.800 GeneticVariation UNIPROT Multiple sulfatase deficiency is caused by mutations in the gene encoding the human C(alpha)-formylglycine generating enzyme. 12757705

2003
dbSNP: rs137852848
rs137852848
SUMF1
0.800 GeneticVariation UNIPROT The multiple sulfatase deficiency gene encodes an essential and limiting factor for the activity of sulfatases. 12757706

2003
dbSNP: rs137852848
rs137852848
SUMF1
G 0.800 CausalMutation CLINVAR