EBP, EBP cholestenol delta-isomerase, 10682

N. diseases: 243; N. variants: 42
Disease: Polydactyly ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0152427
Disease: Polydactyly
Polydactyly 		0.400 Biomarker disease GENOMICS_ENGLAND Characterization of mutations in 22 females with X-linked dominant chondrodysplasia punctata (Happle syndrome). 12509714 2003
CUI: C0152427
Disease: Polydactyly
Polydactyly 		0.400 Biomarker disease HPO