EBP, EBP cholestenol delta-isomerase, 10682

N. diseases: 243; N. variants: 42
Disease: Skin Diseases, Genetic ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0037277
Disease: Skin Diseases, Genetic
Skin Diseases, Genetic 		0.020 Biomarker group BEFREE Conradi-Hünermann-Happle syndrome (X-linked dominant chondrodysplasia punctata, CDPX2 [Online Mendelian Inheritance in Man 302960]) is a rare genodermatosis that presents with blaschkolinear ichthyosis, cicatricial alopecia, chondrodysplasia punctata, asymmetric shortening of the bones, and cataracts. 24915996 2015
CUI: C0037277
Disease: Skin Diseases, Genetic
Skin Diseases, Genetic 		0.020 GeneticVariation group BEFREE Conradi-Hünermann-Happle syndrome, or X-linked dominant chondrodysplasia punctata type 2 (CDPX2), is a genodermatosis caused by mutations in EBP. 25846959 2015