Disease: Bifunctional peroxisomal enzyme deficiency ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs137853097
rs137853097
Entrez Id: 3295
Gene Symbol: HSD17B4
HSD17B4
CUI: C0342870
Disease:
Bifunctional peroxisomal enzyme deficiency 		T 0.800 GeneticVariation CLINVAR After biochemical analysis, D-bifunctional protein deficiency was confirmed with the identification of a homozygous p.Asn457Tyr (N457Y) mutation of the HSD17B4 gene. 25882080 2015
dbSNP: rs137853097
rs137853097
Entrez Id: 3295
Gene Symbol: HSD17B4
HSD17B4
CUI: C0342870
Disease:
Bifunctional peroxisomal enzyme deficiency 		T 0.800 CausalMutation CLINVAR After biochemical analysis, D-bifunctional protein deficiency was confirmed with the identification of a homozygous p.Asn457Tyr (N457Y) mutation of the HSD17B4 gene. 25882080 2015
dbSNP: rs137853097
rs137853097
Entrez Id: 3295
Gene Symbol: HSD17B4
HSD17B4
CUI: C0342870
Disease:
Bifunctional peroxisomal enzyme deficiency 		G 0.800 GeneticVariation CLINVAR Peroxisomal D-bifunctional protein deficiency: First case reports from Slovakia. 25967389 2015
dbSNP: rs137853097
rs137853097
Entrez Id: 3295
Gene Symbol: HSD17B4
HSD17B4
CUI: C0342870
Disease:
Bifunctional peroxisomal enzyme deficiency 		G 0.800 GeneticVariation CLINVAR Hydratase activities of green fluorescent protein tagged human multifunctional enzyme type 2 hydratase domain and its variants. 22864515 2012
dbSNP: rs137853097
rs137853097
Entrez Id: 3295
Gene Symbol: HSD17B4
HSD17B4
CUI: C0342870
Disease:
Bifunctional peroxisomal enzyme deficiency 		T 0.800 CausalMutation CLINVAR Hydratase activities of green fluorescent protein tagged human multifunctional enzyme type 2 hydratase domain and its variants. 22864515 2012
dbSNP: rs137853097
rs137853097
Entrez Id: 3295
Gene Symbol: HSD17B4
HSD17B4
CUI: C0342870
Disease:
Bifunctional peroxisomal enzyme deficiency 		T 0.800 CausalMutation CLINVAR Specific combination of compound heterozygous mutations in 17β-hydroxysteroid dehydrogenase type 4 (HSD17B4) defines a new subtype of D-bifunctional protein deficiency. 23181892 2012
dbSNP: rs137853097
rs137853097
Entrez Id: 3295
Gene Symbol: HSD17B4
HSD17B4
CUI: C0342870
Disease:
Bifunctional peroxisomal enzyme deficiency 		T 0.800 GeneticVariation CLINVAR Hydratase activities of green fluorescent protein tagged human multifunctional enzyme type 2 hydratase domain and its variants. 22864515 2012
dbSNP: rs137853097
rs137853097
Entrez Id: 3295
Gene Symbol: HSD17B4
HSD17B4
CUI: C0342870
Disease:
Bifunctional peroxisomal enzyme deficiency 		G 0.800 GeneticVariation CLINVAR Mutational spectrum of D-bifunctional protein deficiency and structure-based genotype-phenotype analysis. 16385454 2006
dbSNP: rs137853097
rs137853097
Entrez Id: 3295
Gene Symbol: HSD17B4
HSD17B4
CUI: C0342870
Disease:
Bifunctional peroxisomal enzyme deficiency 		T 0.800 CausalMutation CLINVAR Mutational spectrum of D-bifunctional protein deficiency and structure-based genotype-phenotype analysis. 16385454 2006
dbSNP: rs137853097
rs137853097
Entrez Id: 3295
Gene Symbol: HSD17B4
HSD17B4
CUI: C0342870
Disease:
Bifunctional peroxisomal enzyme deficiency 		T 0.800 GeneticVariation CLINVAR Mutational spectrum of D-bifunctional protein deficiency and structure-based genotype-phenotype analysis. 16385454 2006
dbSNP: rs137853097
rs137853097
Entrez Id: 3295
Gene Symbol: HSD17B4
HSD17B4
CUI: C0342870
Disease:
Bifunctional peroxisomal enzyme deficiency 		T 0.800 GeneticVariation CLINVAR Crystal structure of 2-enoyl-CoA hydratase 2 from human peroxisomal multifunctional enzyme type 2. 15644212 2005
dbSNP: rs137853097
rs137853097
Entrez Id: 3295
Gene Symbol: HSD17B4
HSD17B4
CUI: C0342870
Disease:
Bifunctional peroxisomal enzyme deficiency 		T 0.800 GeneticVariation CLINVAR A novel HPLC-based method to diagnose peroxisomal D-bifunctional protein enoyl-CoA hydratase deficiency. 12562856 2003
dbSNP: rs137853097
rs137853097
Entrez Id: 3295
Gene Symbol: HSD17B4
HSD17B4
CUI: C0342870
Disease:
Bifunctional peroxisomal enzyme deficiency 		0.800 GeneticVariation UNIPROT D-bifunctional protein deficiency with fetal ascites, polyhydramnios, and contractures of hands and toes. 11743515 2001
dbSNP: rs137853097
rs137853097
Entrez Id: 3295
Gene Symbol: HSD17B4
HSD17B4
CUI: C0342870
Disease:
Bifunctional peroxisomal enzyme deficiency 		0.800 GeneticVariation UNIPROT Human peroxisomal multifunctional enzyme type 2. Site-directed mutagenesis studies show the importance of two protic residues for 2-enoyl-CoA hydratase 2 activity. 10671535 2000
dbSNP: rs137853097
rs137853097
Entrez Id: 3295
Gene Symbol: HSD17B4
HSD17B4
CUI: C0342870
Disease:
Bifunctional peroxisomal enzyme deficiency 		G 0.800 GeneticVariation CLINVAR Molecular changes in the D-bifunctional protein cDNA sequence in Australasian patients belonging to the bifunctional protein complementation group. 11330053 2000
dbSNP: rs137853097
rs137853097
Entrez Id: 3295
Gene Symbol: HSD17B4
HSD17B4
CUI: C0342870
Disease:
Bifunctional peroxisomal enzyme deficiency 		T 0.800 CausalMutation CLINVAR Enoyl-CoA hydratase deficiency: identification of a new type of D-bifunctional protein deficiency. 10400999 1999
dbSNP: rs137853097
rs137853097
Entrez Id: 3295
Gene Symbol: HSD17B4
HSD17B4
CUI: C0342870
Disease:
Bifunctional peroxisomal enzyme deficiency 		T 0.800 GeneticVariation CLINVAR Enoyl-CoA hydratase deficiency: identification of a new type of D-bifunctional protein deficiency. 10400999 1999
dbSNP: rs137853097
rs137853097
Entrez Id: 3295
Gene Symbol: HSD17B4
HSD17B4
CUI: C0342870
Disease:
Bifunctional peroxisomal enzyme deficiency 		0.800 GeneticVariation UNIPROT Enoyl-CoA hydratase deficiency: identification of a new type of D-bifunctional protein deficiency. 10400999 1999
dbSNP: rs137853097
rs137853097
Entrez Id: 3295
Gene Symbol: HSD17B4
HSD17B4
CUI: C0342870
Disease:
Bifunctional peroxisomal enzyme deficiency 		0.800 GeneticVariation UNIPROT Peroxisomal D-hydroxyacyl-CoA dehydrogenase deficiency: resolution of the enzyme defect and its molecular basis in bifunctional protein deficiency. 9482850 1998