Disease: Limb defects ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894905
rs104894905
Entrez Id: 50814
Gene Symbol: NSDHL
NSDHL
CUI: C0740404
Disease:
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