DHCR7, 7-dehydrocholesterol reductase, 1717

N. diseases: 266; N. variants: 96
Disease: Holoprosencephaly ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0079541
Disease: Holoprosencephaly
Holoprosencephaly 		0.130 GeneticVariation disease BEFREE These results suggest that mutation of the Dhcr7 gene is involved in HPE pathogenesis. 15013448 2004
CUI: C0079541
Disease: Holoprosencephaly
Holoprosencephaly 		0.130 Biomarker disease BEFREE This report illustrates a severe phenotypic extreme of SLOS associated with a null genotype, underscores the complex relationship between SLOS and holoprosencephaly, and discusses the possible pathogenetic mechanisms of the development of holoprosencephaly in SLOS. 11562938 2001
CUI: C0079541
Disease: Holoprosencephaly
Holoprosencephaly 		0.130 Biomarker disease BEFREE These clinical, biochemical, and molecular studies suggest that HPE and other malformations in SLOS may be caused by incomplete or abnormal modification of the sonic hedgehog protein and, possible, other patterning proteins of the hedgehog class, a hypothesis testable in somatic cell systems. 8989473 1996
CUI: C0079541
Disease: Holoprosencephaly
Holoprosencephaly 		0.130 Biomarker disease HPO