KDSR, 3-ketodihydrosphingosine reductase, 2531

N. diseases: 52; N. variants: 4
Disease: Spinal Muscular Atrophy ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0026847
Disease: Spinal Muscular Atrophy
Spinal Muscular Atrophy 		0.010 GeneticVariation disease LHGDN A missense mutation in the 3-ketodihydrosphingosine reductase FVT1 as candidate causal mutation for bovine spinal muscular atrophy. 17420465 2007