Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894909
rs104894909
Entrez Id: 50814
Gene Symbol: NSDHL
NSDHL
CUI: C0265267
Disease:
Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects 		0.810 GeneticVariation BEFREE Subsequent genetic analysis identified a germline c.324C>T (p.A105V) NSDHL mutation and confirmed a diagnosis of CHILD syndrome. 25093865 2014
dbSNP: rs104894909
rs104894909
Entrez Id: 50814
Gene Symbol: NSDHL
NSDHL
CUI: C0265267
Disease:
Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects 		0.810 GeneticVariation UNIPROT A novel missense mutation of NSDHL in an unusual case of CHILD syndrome showing bilateral, almost symmetric involvement. 11907515 2002
dbSNP: rs104894909
rs104894909
Entrez Id: 50814
Gene Symbol: NSDHL
NSDHL
CUI: C0265267
Disease:
Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects 		0.810 GeneticVariation UNIPROT Mutations in the NSDHL gene, encoding a 3beta-hydroxysteroid dehydrogenase, cause CHILD syndrome. 10710235 2000
dbSNP: rs104894909
rs104894909
Entrez Id: 50814
Gene Symbol: NSDHL
NSDHL
CUI: C0265267
Disease:
Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects 		T 0.810 CausalMutation CLINVAR
dbSNP: rs104894901
rs104894901
Entrez Id: 50814
Gene Symbol: NSDHL
NSDHL
CUI: C0265267
Disease:
Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects 		0.800 GeneticVariation UNIPROT A novel missense mutation of NSDHL in an unusual case of CHILD syndrome showing bilateral, almost symmetric involvement. 11907515 2002
dbSNP: rs104894904
rs104894904
Entrez Id: 50814
Gene Symbol: NSDHL
NSDHL
CUI: C0265267
Disease:
Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects 		0.800 GeneticVariation UNIPROT A novel missense mutation of NSDHL in an unusual case of CHILD syndrome showing bilateral, almost symmetric involvement. 11907515 2002
dbSNP: rs104894901
rs104894901
Entrez Id: 50814
Gene Symbol: NSDHL
NSDHL
CUI: C0265267
Disease:
Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects 		0.800 GeneticVariation UNIPROT Mutations in the NSDHL gene, encoding a 3beta-hydroxysteroid dehydrogenase, cause CHILD syndrome. 10710235 2000
dbSNP: rs104894904
rs104894904
Entrez Id: 50814
Gene Symbol: NSDHL
NSDHL
CUI: C0265267
Disease:
Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects 		0.800 GeneticVariation UNIPROT Mutations in the NSDHL gene, encoding a 3beta-hydroxysteroid dehydrogenase, cause CHILD syndrome. 10710235 2000
dbSNP: rs104894901
rs104894901
Entrez Id: 50814
Gene Symbol: NSDHL
NSDHL
CUI: C0265267
Disease:
Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects 		A 0.800 CausalMutation CLINVAR
dbSNP: rs104894904
rs104894904
Entrez Id: 50814
Gene Symbol: NSDHL
NSDHL
CUI: C0265267
Disease:
Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects 		C 0.800 CausalMutation CLINVAR
dbSNP: rs104894905
rs104894905
Entrez Id: 50814
Gene Symbol: NSDHL
NSDHL
CUI: C0265267
Disease:
Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects 		0.710 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
dbSNP: rs104894905
rs104894905
Entrez Id: 50814
Gene Symbol: NSDHL
NSDHL
CUI: C0265267
Disease:
Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects 		T 0.710 CausalMutation CLINVAR
dbSNP: rs104894901
rs104894901
Entrez Id: 50814
Gene Symbol: NSDHL
NSDHL
CUI: C3151781
Disease:
CK syndrome 		A 0.700 CausalMutation CLINVAR
dbSNP: rs104894902
rs104894902
Entrez Id: 50814
Gene Symbol: NSDHL
NSDHL
CUI: C0265267
Disease:
Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects 		T 0.700 CausalMutation CLINVAR
dbSNP: rs104894903
rs104894903
Entrez Id: 50814
Gene Symbol: NSDHL
NSDHL
CUI: C3151781
Disease:
CK syndrome 		T 0.700 CausalMutation CLINVAR
dbSNP: rs104894903
rs104894903
Entrez Id: 50814
Gene Symbol: NSDHL
NSDHL
CUI: C0265267
Disease:
Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects 		T 0.700 CausalMutation CLINVAR
dbSNP: rs104894909
rs104894909
Entrez Id: 50814
Gene Symbol: NSDHL
NSDHL
CUI: C3151781
Disease:
CK syndrome 		T 0.700 CausalMutation CLINVAR
dbSNP: rs121909833
rs121909833
Entrez Id: 50814
Gene Symbol: NSDHL
NSDHL
CUI: C3151781
Disease:
CK syndrome 		G 0.700 CausalMutation CLINVAR
dbSNP: rs121909834
rs121909834
Entrez Id: 50814
Gene Symbol: NSDHL
NSDHL
CUI: C3151781
Disease:
CK syndrome 		CT 0.700 CausalMutation CLINVAR
dbSNP: rs137853862
rs137853862
Entrez Id: 50814
Gene Symbol: NSDHL
NSDHL
CUI: C3151781
Disease:
CK syndrome 		A 0.700 CausalMutation CLINVAR
dbSNP: rs137853863
rs137853863
Entrez Id: 50814
Gene Symbol: NSDHL
NSDHL
CUI: C3151781
Disease:
CK syndrome 		G 0.700 CausalMutation CLINVAR
dbSNP: rs141571609
rs141571609
Entrez Id: 50814
Gene Symbol: NSDHL
NSDHL
CUI: C0265267
Disease:
Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects 		T 0.700 CausalMutation CLINVAR
dbSNP: rs587784222
rs587784222
Entrez Id: 50814
Gene Symbol: NSDHL
NSDHL
CUI: C0265267
Disease:
Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs587784223
rs587784223
Entrez Id: 50814
Gene Symbol: NSDHL
NSDHL
CUI: C0265267
Disease:
Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs587784224
rs587784224
Entrez Id: 50814
Gene Symbol: NSDHL
NSDHL
CUI: C0265267
Disease:
Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects 		A 0.700 GeneticVariation CLINVAR