EBP, EBP cholestenol delta-isomerase, 10682

N. diseases: 243; N. variants: 42
Disease: Chondrodysplasia punctata, X-linked dominant type ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs797045153
rs797045153
Entrez Id: 10682
Gene Symbol: EBP
EBP
CUI: C0282102
Disease:
Chondrodysplasia punctata, X-linked dominant type 		0.010 GeneticVariation BEFREE A novel EBP c.224T>A mutation supports the existence of a male-specific disorder independent of CDPX2. 24700572 2014