EBP, EBP cholestenol delta-isomerase, 10682

N. diseases: 243; N. variants: 42
Disease: Dandy-Walker Syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0010964
Disease: Dandy-Walker Syndrome
Dandy-Walker Syndrome 		0.110 GeneticVariation disease BEFREE Our group has identified a hemizygous EBP mutation in males with a phenotype remarkable for Dandy-Walker malformation, cataracts, collodion skin and cryptorchidism. 20949533 2010
CUI: C0010964
Disease: Dandy-Walker Syndrome
Dandy-Walker Syndrome 		0.110 Biomarker disease HPO