Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs587784225
rs587784225
Entrez Id: 50814
Gene Symbol: NSDHL
NSDHL
CUI: C0265267
Disease:
Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects 		C 0.700 CausalMutation CLINVAR
dbSNP: rs587784226
rs587784226
Entrez Id: 50814
Gene Symbol: NSDHL
NSDHL
CUI: C0265267
Disease:
Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects 		A 0.700 CausalMutation CLINVAR
dbSNP: rs797045835
rs797045835
Entrez Id: 50814
Gene Symbol: NSDHL
NSDHL
CUI: C0265267
Disease:
Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects 		CCATG 0.700 CausalMutation CLINVAR
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