rs104886033, DHCR7

N. diseases: 10
Disease: Smith-Lemli-Opitz Syndrome ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Smith-Lemli-Opitz Syndrome
CUI: C0175694
Disease: Smith-Lemli-Opitz Syndrome
0.700 GeneticVariation CLINVAR Decreased cerebral spinal fluid neurotransmitter levels in Smith-Lemli-Opitz syndrome. 24500076 2014
Smith-Lemli-Opitz Syndrome
CUI: C0175694
Disease: Smith-Lemli-Opitz Syndrome
0.700 GeneticVariation CLINVAR No evidence for mevalonate shunting in moderately affected children with Smith-Lemli-Opitz syndrome. 22391996 2012
Smith-Lemli-Opitz Syndrome
CUI: C0175694
Disease: Smith-Lemli-Opitz Syndrome
0.700 GeneticVariation CLINVAR Adrenal function in Smith-Lemli-Opitz syndrome. 21990131 2011
Smith-Lemli-Opitz Syndrome
CUI: C0175694
Disease: Smith-Lemli-Opitz Syndrome
0.700 GeneticVariation CLINVAR Increased nonsterol isoprenoids, dolichol and ubiquinone, in the Smith-Lemli-Opitz syndrome: effects of dietary cholesterol. 16983147 2006
Smith-Lemli-Opitz Syndrome
CUI: C0175694
Disease: Smith-Lemli-Opitz Syndrome
0.700 GeneticVariation CLINVAR DHCR7 mutations in Brazilian Smith-Lemli-Opitz syndrome patients. 15952211 2005
Smith-Lemli-Opitz Syndrome
CUI: C0175694
Disease: Smith-Lemli-Opitz Syndrome
0.700 GeneticVariation CLINVAR Identification of 14 novel mutations in DHCR7 causing the Smith-Lemli-Opitz syndrome and delineation of the DHCR7 mutational spectra in Spain and Italy. 15776424 2005
Smith-Lemli-Opitz Syndrome
CUI: C0175694
Disease: Smith-Lemli-Opitz Syndrome
0.700 GeneticVariation CLINVAR Mutations in the human sterol delta7-reductase gene at 11q12-13 cause Smith-Lemli-Opitz syndrome. 9634533 1998
Smith-Lemli-Opitz Syndrome
CUI: C0175694
Disease: Smith-Lemli-Opitz Syndrome
0.700 CausalMutation CLINVAR