SUMF2, sulfatase modifying factor 2, 25870

N. diseases: 59; N. variants: 4
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs13244654
rs13244654
Entrez Id: 25870
Gene Symbol: SUMF2
SUMF2
CUI: C0523920
Disease:
Threonine measurement 		0.700 GeneticVariation GWASCAT Genetic basis for plasma amino acid concentrations based on absolute quantification: a genome-wide association study in the Japanese population. 30659259 2019
dbSNP: rs13244654
rs13244654
Entrez Id: 25870
Gene Symbol: SUMF2
SUMF2
CUI: C0523888
Disease:
Serine measurement 		T 0.700 GeneticVariation GWASCAT Genetic basis for plasma amino acid concentrations based on absolute quantification: a genome-wide association study in the Japanese population. 30659259 2019
dbSNP: rs13244654
rs13244654
Entrez Id: 25870
Gene Symbol: SUMF2
SUMF2
CUI: C0201874
Disease:
Amino acids measurement 		T 0.700 GeneticVariation GWASCAT Genetic basis for plasma amino acid concentrations based on absolute quantification: a genome-wide association study in the Japanese population. 30659259 2019
dbSNP: rs13244654
rs13244654
Entrez Id: 25870
Gene Symbol: SUMF2
SUMF2
CUI: C0428210
Disease:
Methionine measurement 		0.700 GeneticVariation GWASCAT Genetic basis for plasma amino acid concentrations based on absolute quantification: a genome-wide association study in the Japanese population. 30659259 2019
dbSNP: rs1237770118
rs1237770118
Entrez Id: 25870
Gene Symbol: SUMF2
SUMF2
CUI: C0010346
Disease:
Crohn Disease 		0.010 GeneticVariation BEFREE A whole-genome microarray expression study further suggested that the Ala62Thr change in ZNF365 isoform D is related to differential expression of the genes ARL4A, MKKS, RRAGD, SUMF2, TDR1 and ZNF148 in CD. 21257989 2011
dbSNP: rs759319721
rs759319721
Entrez Id: 5260;25870
Gene Symbol: PHKG1;SUMF2
PHKG1;SUMF2
CUI: C0796070
Disease:
MICROPHTHALMIA, SYNDROMIC 7 		0.010 GeneticVariation BEFREE Secondary structure predictions further showed that the A137C and G205A mutations together abolished the hairpin sequestering the ribosome-binding and initiation sites of the erm(A) gene, explaining the cMLS phenotype 3. 18952616 2009
dbSNP: rs773695444
rs773695444
Entrez Id: 5260;25870
Gene Symbol: PHKG1;SUMF2
PHKG1;SUMF2
CUI: C0796070
Disease:
MICROPHTHALMIA, SYNDROMIC 7 		0.010 GeneticVariation BEFREE Secondary structure predictions further showed that the A137C and G205A mutations together abolished the hairpin sequestering the ribosome-binding and initiation sites of the erm(A) gene, explaining the cMLS phenotype 3. 18952616 2009