Disease: PERRAULT SYNDROME 1 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4551721
Disease: PERRAULT SYNDROME 1
PERRAULT SYNDROME 1 		0.600 GeneticVariation disease CLINVAR Expanding the genotypic spectrum of Perrault syndrome. 26970254 2017
CUI: C4551721
Disease: PERRAULT SYNDROME 1
PERRAULT SYNDROME 1 		0.600 GeneticVariation disease CLINVAR New perspective in diagnostics of mitochondrial disorders: two years' experience with whole-exome sequencing at a national paediatric centre. 27290639 2016
CUI: C4551721
Disease: PERRAULT SYNDROME 1
PERRAULT SYNDROME 1 		0.600 GeneticVariation disease CLINVAR Peroxisomal D-bifunctional protein deficiency: First case reports from Slovakia. 25967389 2015
CUI: C4551721
Disease: PERRAULT SYNDROME 1
PERRAULT SYNDROME 1 		0.600 CausalMutation disease CLINVAR D-bifunctional protein deficiency: a cause of neonatal onset seizures and hypotonia. 25882080 2015
CUI: C4551721
Disease: PERRAULT SYNDROME 1
PERRAULT SYNDROME 1 		0.600 GeneticVariation disease CLINVAR D-bifunctional protein deficiency: a cause of neonatal onset seizures and hypotonia. 25882080 2015
CUI: C4551721
Disease: PERRAULT SYNDROME 1
PERRAULT SYNDROME 1 		0.600 GeneticVariation disease CLINVAR Hydratase activities of green fluorescent protein tagged human multifunctional enzyme type 2 hydratase domain and its variants. 22864515 2012
CUI: C4551721
Disease: PERRAULT SYNDROME 1
PERRAULT SYNDROME 1 		0.600 CausalMutation disease 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
CUI: C4551721
Disease: PERRAULT SYNDROME 1
PERRAULT SYNDROME 1 		0.600 CausalMutation disease CLINVAR Hydratase activities of green fluorescent protein tagged human multifunctional enzyme type 2 hydratase domain and its variants. 22864515 2012
CUI: C4551721
Disease: PERRAULT SYNDROME 1
PERRAULT SYNDROME 1 		0.600 GeneticVariation disease UNIPROT Mutations in the DBP-deficiency protein HSD17B4 cause ovarian dysgenesis, hearing loss, and ataxia of Perrault Syndrome. 20673864 2010
CUI: C4551721
Disease: PERRAULT SYNDROME 1
PERRAULT SYNDROME 1 		0.600 GeneticVariation disease CLINVAR Mutational spectrum of D-bifunctional protein deficiency and structure-based genotype-phenotype analysis. 16385454 2006
CUI: C4551721
Disease: PERRAULT SYNDROME 1
PERRAULT SYNDROME 1 		0.600 CausalMutation disease CLINVAR Mutational spectrum of D-bifunctional protein deficiency and structure-based genotype-phenotype analysis. 16385454 2006
CUI: C4551721
Disease: PERRAULT SYNDROME 1
PERRAULT SYNDROME 1 		0.600 GeneticVariation disease CLINVAR Inactivation of the peroxisomal multifunctional protein-2 in mice impedes the degradation of not only 2-methyl-branched fatty acids and bile acid intermediates but also of very long chain fatty acids. 10748062 2000
CUI: C4551721
Disease: PERRAULT SYNDROME 1
PERRAULT SYNDROME 1 		0.600 Biomarker disease GENOMICS_ENGLAND Peroxisomal bifunctional protein deficiency revisited: resolution of its true enzymatic and molecular basis. 9915948 1999
CUI: C4551721
Disease: PERRAULT SYNDROME 1
PERRAULT SYNDROME 1 		0.600 CausalMutation disease CLINVAR Enoyl-CoA hydratase deficiency: identification of a new type of D-bifunctional protein deficiency. 10400999 1999
CUI: C4551721
Disease: PERRAULT SYNDROME 1
PERRAULT SYNDROME 1 		0.600 GeneticVariation disease CLINVAR Enoyl-CoA hydratase deficiency: identification of a new type of D-bifunctional protein deficiency. 10400999 1999
CUI: C4551721
Disease: PERRAULT SYNDROME 1
PERRAULT SYNDROME 1 		0.600 GeneticVariation disease CLINVAR Peroxisomal D-hydroxyacyl-CoA dehydrogenase deficiency: resolution of the enzyme defect and its molecular basis in bifunctional protein deficiency. 9482850 1998