Gene: SUMF1 ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs137852846
rs137852846
SUMF1
0.820 GeneticVariation BEFREE E130D, S155P, A177P, W179S, C218Y, R224W, N259I, P266L, A279V, C336R, R345C, A348P, R349Q and R349W associated with multiple sulfatase deficiency are yet to be computationally studied. 29048999

2018
dbSNP: rs137852846
rs137852846
SUMF1
0.820 GeneticVariation UNIPROT Clinical genetics evaluation in identifying the etiology of autism spectrum disorders: 2013 guideline revisions. 23519317

2013
dbSNP: rs137852846
rs137852846
SUMF1
0.820 GeneticVariation UNIPROT SUMF1 mutations affecting stability and activity of formylglycine generating enzyme predict clinical outcome in multiple sulfatase deficiency. 21224894

2011
dbSNP: rs137852846
rs137852846
SUMF1
0.820 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: rs137852846
rs137852846
SUMF1
0.820 GeneticVariation BEFREE To correlate the nature of the residual sulfatase activities detected in MSD patients with residual FGE activity, four FGE mutants (i.e. p.S155P, p.R224W, p.R345C, p.R349W) found in homozygosis in MSD patients were analyzed. 17657823

2007
dbSNP: rs137852846
rs137852846
SUMF1
0.820 GeneticVariation UNIPROT Molecular and functional analysis of SUMF1 mutations in multiple sulfatase deficiency. 15146462

2004
dbSNP: rs137852846
rs137852846
SUMF1
0.820 GeneticVariation UNIPROT The multiple sulfatase deficiency gene encodes an essential and limiting factor for the activity of sulfatases. 12757706

2003
dbSNP: rs137852846
rs137852846
SUMF1
0.820 GeneticVariation UNIPROT Multiple sulfatase deficiency is caused by mutations in the gene encoding the human C(alpha)-formylglycine generating enzyme. 12757705

2003
dbSNP: rs137852846
rs137852846
SUMF1
A 0.820 GeneticVariation CLINVAR

dbSNP: rs137852846
rs137852846
SUMF1
A 0.820 CausalMutation CLINVAR

dbSNP: rs137852847
rs137852847
SUMF1
0.810 GeneticVariation BEFREE E130D, S155P, A177P, W179S, C218Y, R224W, N259I, P266L, A279V, C336R, R345C, A348P, R349Q and R349W associated with multiple sulfatase deficiency are yet to be computationally studied. 29048999

2018
dbSNP: rs137852852
rs137852852
SUMF1
0.810 GeneticVariation BEFREE Therefore, theoretical explanations for structural distortions of mutant R345C leading to multiple sulfatase deficiency were revealed. 29048999

2018
dbSNP: rs137852847
rs137852847
SUMF1
0.810 GeneticVariation UNIPROT Clinical genetics evaluation in identifying the etiology of autism spectrum disorders: 2013 guideline revisions. 23519317

2013
dbSNP: rs137852852
rs137852852
SUMF1
0.810 GeneticVariation UNIPROT Clinical genetics evaluation in identifying the etiology of autism spectrum disorders: 2013 guideline revisions. 23519317

2013
dbSNP: rs137852847
rs137852847
SUMF1
0.810 GeneticVariation UNIPROT SUMF1 mutations affecting stability and activity of formylglycine generating enzyme predict clinical outcome in multiple sulfatase deficiency. 21224894

2011
dbSNP: rs137852852
rs137852852
SUMF1
0.810 GeneticVariation UNIPROT SUMF1 mutations affecting stability and activity of formylglycine generating enzyme predict clinical outcome in multiple sulfatase deficiency. 21224894

2011
dbSNP: rs137852847
rs137852847
SUMF1
0.810 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: rs137852852
rs137852852
SUMF1
0.810 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: rs137852847
rs137852847
SUMF1
0.810 GeneticVariation UNIPROT Molecular and functional analysis of SUMF1 mutations in multiple sulfatase deficiency. 15146462

2004
dbSNP: rs137852852
rs137852852
SUMF1
0.810 GeneticVariation UNIPROT Molecular and functional analysis of SUMF1 mutations in multiple sulfatase deficiency. 15146462

2004
dbSNP: rs137852847
rs137852847
SUMF1
0.810 GeneticVariation UNIPROT The multiple sulfatase deficiency gene encodes an essential and limiting factor for the activity of sulfatases. 12757706

2003
dbSNP: rs137852847
rs137852847
SUMF1
0.810 GeneticVariation UNIPROT Multiple sulfatase deficiency is caused by mutations in the gene encoding the human C(alpha)-formylglycine generating enzyme. 12757705

2003
dbSNP: rs137852852
rs137852852
SUMF1
0.810 GeneticVariation UNIPROT The multiple sulfatase deficiency gene encodes an essential and limiting factor for the activity of sulfatases. 12757706

2003
dbSNP: rs137852852
rs137852852
SUMF1
0.810 GeneticVariation UNIPROT Multiple sulfatase deficiency is caused by mutations in the gene encoding the human C(alpha)-formylglycine generating enzyme. 12757705

2003
dbSNP: rs137852847
rs137852847
SUMF1
T 0.810 CausalMutation CLINVAR