Disease: Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
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: 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: 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