Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 50814
Gene Symbol: NSDHL
NSDHL
CUI: C0740404
Disease: Limb defects
Limb defects
0.010 GeneticVariation BEFREE Although all of the molecularly diagnosed cases with the CHILD phenotype to date have had right-sided disease, we report here a novel nonsense mutation (E151X) of NSDHL in an infant with left-sided CHILD syndrome. 12966526

2003