Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs137853096
rs137853096
Entrez Id: 3295
Gene Symbol: HSD17B4
HSD17B4
CUI: C0342870
Disease:
Bifunctional peroxisomal enzyme deficiency 		A 0.800 GeneticVariation CLINVAR Expanding the genotypic spectrum of Perrault syndrome. 26970254 2017
dbSNP: rs137853096
rs137853096
Entrez Id: 3295
Gene Symbol: HSD17B4
HSD17B4
CUI: C0342870
Disease:
Bifunctional peroxisomal enzyme deficiency 		A 0.800 GeneticVariation CLINVAR New perspective in diagnostics of mitochondrial disorders: two years' experience with whole-exome sequencing at a national paediatric centre. 27290639 2016
dbSNP: rs137853096
rs137853096
Entrez Id: 3295
Gene Symbol: HSD17B4
HSD17B4
CUI: C0342870
Disease:
Bifunctional peroxisomal enzyme deficiency 		A 0.800 GeneticVariation CLINVAR Peroxisomal D-bifunctional protein deficiency: First case reports from Slovakia. 25967389 2015
dbSNP: rs137853096
rs137853096
Entrez Id: 3295
Gene Symbol: HSD17B4
HSD17B4
CUI: C0342870
Disease:
Bifunctional peroxisomal enzyme deficiency 		A 0.800 CausalMutation 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 		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: rs387906825
rs387906825
Entrez Id: 3295
Gene Symbol: HSD17B4
HSD17B4
CUI: C4551721
Disease:
PERRAULT SYNDROME 1 		0.800 GeneticVariation UNIPROT Mutations in the DBP-deficiency protein HSD17B4 cause ovarian dysgenesis, hearing loss, and ataxia of Perrault Syndrome. 20673864 2010
dbSNP: rs137853096
rs137853096
Entrez Id: 3295
Gene Symbol: HSD17B4
HSD17B4
CUI: C0342870
Disease:
Bifunctional peroxisomal enzyme deficiency 		A 0.800 GeneticVariation CLINVAR Mutational spectrum of D-bifunctional protein deficiency and structure-based genotype-phenotype analysis. 16385454 2006
dbSNP: rs137853096
rs137853096
Entrez Id: 3295
Gene Symbol: HSD17B4
HSD17B4
CUI: C0342870
Disease:
Bifunctional peroxisomal enzyme deficiency 		A 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 		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: rs137853096
rs137853096
Entrez Id: 3295
Gene Symbol: HSD17B4
HSD17B4
CUI: C0342870
Disease:
Bifunctional peroxisomal enzyme deficiency 		A 0.800 GeneticVariation CLINVAR Binary structure of the two-domain (3R)-hydroxyacyl-CoA dehydrogenase from rat peroxisomal multifunctional enzyme type 2 at 2.38 A resolution. 12517343 2003
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: rs137853096
rs137853096
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 D-bifunctional protein deficiency with fetal ascites, polyhydramnios, and contractures of hands and toes. 11743515 2001
dbSNP: rs137853096
rs137853096
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 		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