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: rs1554065670
rs1554065670
Entrez Id: 3295
Gene Symbol: HSD17B4
HSD17B4
CUI: C0342870
Disease:
Bifunctional peroxisomal enzyme deficiency 		T 0.700 CausalMutation CLINVAR
dbSNP: rs1554065671
rs1554065671
Entrez Id: 3295
Gene Symbol: HSD17B4
HSD17B4
CUI: C0342870
Disease:
Bifunctional peroxisomal enzyme deficiency 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs1554066421
rs1554066421
Entrez Id: 3295
Gene Symbol: HSD17B4
HSD17B4
CUI: C0342870
Disease:
Bifunctional peroxisomal enzyme deficiency 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs1554068134
rs1554068134
Entrez Id: 3295
Gene Symbol: HSD17B4
HSD17B4
CUI: C0342870
Disease:
Bifunctional peroxisomal enzyme deficiency 		C 0.700 GeneticVariation CLINVAR
dbSNP: rs1554068426
rs1554068426
Entrez Id: 3295
Gene Symbol: HSD17B4
HSD17B4
CUI: C0342870
Disease:
Bifunctional peroxisomal enzyme deficiency 		C 0.700 GeneticVariation CLINVAR
dbSNP: rs1554068960
rs1554068960
Entrez Id: 3295
Gene Symbol: HSD17B4
HSD17B4
CUI: C0342870
Disease:
Bifunctional peroxisomal enzyme deficiency 		G 0.700 GeneticVariation CLINVAR
dbSNP: rs1554069592
rs1554069592
Entrez Id: 3295
Gene Symbol: HSD17B4
HSD17B4
CUI: C0342870
Disease:
Bifunctional peroxisomal enzyme deficiency 		G 0.700 GeneticVariation CLINVAR
dbSNP: rs1554069610
rs1554069610
Entrez Id: 3295
Gene Symbol: HSD17B4
HSD17B4
CUI: C0342870
Disease:
Bifunctional peroxisomal enzyme deficiency 		C 0.700 GeneticVariation CLINVAR
dbSNP: rs1561485663
rs1561485663
Entrez Id: 3295
Gene Symbol: HSD17B4
HSD17B4
CUI: C0342870
Disease:
Bifunctional peroxisomal enzyme deficiency 		G 0.700 CausalMutation CLINVAR
dbSNP: rs749532705
rs749532705
Entrez Id: 3295
Gene Symbol: HSD17B4
HSD17B4
CUI: C0342870
Disease:
Bifunctional peroxisomal enzyme deficiency 		A 0.700 CausalMutation CLINVAR
dbSNP: rs749532705
rs749532705
Entrez Id: 3295
Gene Symbol: HSD17B4
HSD17B4
CUI: C0342870
Disease:
Bifunctional peroxisomal enzyme deficiency 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs751646311
rs751646311
Entrez Id: 3295
Gene Symbol: HSD17B4
HSD17B4
CUI: C0342870
Disease:
Bifunctional peroxisomal enzyme deficiency 		T 0.700 CausalMutation CLINVAR
dbSNP: rs755412738
rs755412738
Entrez Id: 3295
Gene Symbol: HSD17B4
HSD17B4
CUI: C0342870
Disease:
Bifunctional peroxisomal enzyme deficiency 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs758055753
rs758055753
Entrez Id: 3295
Gene Symbol: HSD17B4
HSD17B4
CUI: C0342870
Disease:
Bifunctional peroxisomal enzyme deficiency 		C 0.700 GeneticVariation CLINVAR
dbSNP: rs758055753
rs758055753
Entrez Id: 3295
Gene Symbol: HSD17B4
HSD17B4
CUI: C0342870
Disease:
Bifunctional peroxisomal enzyme deficiency 		C 0.700 CausalMutation CLINVAR
dbSNP: rs765702241
rs765702241
Entrez Id: 3295
Gene Symbol: HSD17B4
HSD17B4
CUI: C0342870
Disease:
Bifunctional peroxisomal enzyme deficiency 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs863225438
rs863225438
Entrez Id: 3295
Gene Symbol: HSD17B4
HSD17B4
CUI: C0342870
Disease:
Bifunctional peroxisomal enzyme deficiency 		G 0.700 CausalMutation CLINVAR
dbSNP: rs137853096
rs137853096
Entrez Id: 3295
Gene Symbol: HSD17B4
HSD17B4
CUI: C0342870
Disease:
Bifunctional peroxisomal enzyme deficiency 		A 0.800 CausalMutation CLINVAR Peroxisomal D-hydroxyacyl-CoA dehydrogenase deficiency: resolution of the enzyme defect and its molecular basis in bifunctional protein deficiency. 9482850 1998
dbSNP: rs137853096
rs137853096
Entrez Id: 3295
Gene Symbol: HSD17B4
HSD17B4
CUI: C0342870
Disease:
Bifunctional peroxisomal enzyme deficiency 		A 0.800 GeneticVariation CLINVAR Peroxisomal D-hydroxyacyl-CoA dehydrogenase deficiency: resolution of the enzyme defect and its molecular basis in bifunctional protein deficiency. 9482850 1998
dbSNP: rs137853096
rs137853096
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
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
dbSNP: rs137853096
rs137853096
Entrez Id: 3295
Gene Symbol: HSD17B4
HSD17B4
CUI: C0342870
Disease:
Bifunctional peroxisomal enzyme deficiency 		A 0.800 GeneticVariation CLINVAR Yeast peroxisomal multifunctional enzyme: (3R)-hydroxyacyl-CoA dehydrogenase domains A and B are required for optimal growth on oleic acid. 10497229 1999
dbSNP: rs137853096
rs137853096
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: rs137853096
rs137853096
Entrez Id: 3295
Gene Symbol: HSD17B4
HSD17B4
CUI: C0342870
Disease:
Bifunctional peroxisomal enzyme deficiency 		A 0.800 CausalMutation CLINVAR Peroxisomal bifunctional protein deficiency revisited: resolution of its true enzymatic and molecular basis. 9915948 1999
dbSNP: rs137853096
rs137853096
Entrez Id: 3295
Gene Symbol: HSD17B4
HSD17B4
CUI: C0342870
Disease:
Bifunctional peroxisomal enzyme deficiency 		A 0.800 GeneticVariation CLINVAR Characterization of the HSD17B4 gene: D-specific multifunctional protein 2/17beta-hydroxysteroid dehydrogenase IV. 10419023 1999