Disease: PERRAULT SYNDROME 1 ×
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: C4551721
Disease:
PERRAULT SYNDROME 1 		T 0.700 GeneticVariation CLINVAR D-bifunctional protein deficiency: a cause of neonatal onset seizures and hypotonia. 25882080 2015
dbSNP: rs137853097
rs137853097
Entrez Id: 3295
Gene Symbol: HSD17B4
HSD17B4
CUI: C4551721
Disease:
PERRAULT SYNDROME 1 		T 0.700 CausalMutation CLINVAR D-bifunctional protein deficiency: a cause of neonatal onset seizures and hypotonia. 25882080 2015
dbSNP: rs137853097
rs137853097
Entrez Id: 3295
Gene Symbol: HSD17B4
HSD17B4
CUI: C4551721
Disease:
PERRAULT SYNDROME 1 		T 0.700 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: C4551721
Disease:
PERRAULT SYNDROME 1 		T 0.700 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: C4551721
Disease:
PERRAULT SYNDROME 1 		T 0.700 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: C4551721
Disease:
PERRAULT SYNDROME 1 		T 0.700 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: C4551721
Disease:
PERRAULT SYNDROME 1 		T 0.700 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: C4551721
Disease:
PERRAULT SYNDROME 1 		T 0.700 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: C4551721
Disease:
PERRAULT SYNDROME 1 		T 0.700 CausalMutation CLINVAR Enoyl-CoA hydratase deficiency: identification of a new type of D-bifunctional protein deficiency. 10400999 1999