Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28935174
rs28935174
EBP
0.800 GeneticVariation UNIPROT Emopamil binding protein mutation in conradi-hünermann-happle syndrome representing plaque-type psoriasis. 25814754

2015
dbSNP: rs28935174
rs28935174
EBP
0.800 GeneticVariation UNIPROT Conradi-Hünermann-Happle syndrome (X-linked dominant chondrodysplasia punctata) confirmed by plasma sterol and mutation analysis. 18176751

2008
dbSNP: rs28935174
rs28935174
EBP
0.800 GeneticVariation UNIPROT Identification of a novel mutation in 3beta-hydroxysteroid-Delta8-Delta7-isomerase in a case of Conradi-Hünermann-Happle syndrome. 11493318

2001
dbSNP: rs28935174
rs28935174
EBP
0.800 GeneticVariation UNIPROT The Conradi-Hünermann-Happle syndrome (CDPX2) and emopamil binding protein: novel mutations, and somatic and gonadal mosaicism. 10942423

2000
dbSNP: rs28935174
rs28935174
EBP
0.800 GeneticVariation UNIPROT Mutations in a delta 8-delta 7 sterol isomerase in the tattered mouse and X-linked dominant chondrodysplasia punctata. jderry@immunex.com. 10391218

1999
dbSNP: rs28935174
rs28935174
EBP
0.800 GeneticVariation UNIPROT Mutations in the gene encoding 3 beta-hydroxysteroid-delta 8, delta 7-isomerase cause X-linked dominant Conradi-Hünermann syndrome. 10391219

1999
dbSNP: rs28935174
rs28935174
EBP
A 0.800 CausalMutation CLINVAR