DHCR7, 7-dehydrocholesterol reductase, 1717

N. diseases: 266; N. variants: 96
Disease: Situs ambiguus ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0266642
Disease: Situs ambiguus
Situs ambiguus 		0.010 Biomarker disease BEFREE The specific association of AVCD and anomalous pulmonary venous return in patients with RSH/SLOS and the finding of AVCD +/- common atrium in several syndromes with polydactyly leads to the hypothesis that heterotaxia due to SHH anomalies could be involved in a large spectrum of conditions. 12797454 2003