rs281797256, DHCR24

N. diseases: 1
Source: UNIPROT ×
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Desmosterolosis
CUI: C1865596
Disease: Desmosterolosis
0.700 GeneticVariation UNIPROT Desmosterolosis-phenotypic and molecular characterization of a third case and review of the literature. 21671375 2011
Desmosterolosis
CUI: C1865596
Disease: Desmosterolosis
0.700 GeneticVariation UNIPROT Mutations in the 3beta-hydroxysterol Delta24-reductase gene cause desmosterolosis, an autosomal recessive disorder of cholesterol biosynthesis. 11519011 2001