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: rs1085307072
rs1085307072
Entrez Id: 3295
Gene Symbol: HSD17B4
HSD17B4
CUI: C4551721
Disease:
PERRAULT SYNDROME 1 		A 0.700 GeneticVariation 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