DHCR7, 7-dehydrocholesterol reductase, 1717

N. diseases: 14; N. variants: 93
Disease: Smith-Lemli-Opitz Syndrome ×
Source: CURATED ×
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0175694
Disease: Smith-Lemli-Opitz Syndrome
Smith-Lemli-Opitz Syndrome 		1.000 GeneticVariation disease UNIPROT We have determined, in 84 patients with clinically and biochemically characterized SLOS (detection rate 96%), the mutational spectrum in the DHCR7 gene. 10677299 2000
CUI: C0175694
Disease: Smith-Lemli-Opitz Syndrome
Smith-Lemli-Opitz Syndrome 		1.000 Biomarker disease CLINGEN We have determined, in 84 patients with clinically and biochemically characterized SLOS (detection rate 96%), the mutational spectrum in the DHCR7 gene. 10677299 2000
CUI: C0175694
Disease: Smith-Lemli-Opitz Syndrome
Smith-Lemli-Opitz Syndrome 		1.000 Biomarker disease CLINGEN Incidence and molecular mechanism of aberrant splicing owing to a G-->C splice acceptor site mutation causing Smith-Lemli-Opitz syndrome. 10905895 2000
CUI: C0175694
Disease: Smith-Lemli-Opitz Syndrome
Smith-Lemli-Opitz Syndrome 		1.000 GeneticVariation disease UNIPROT The purpose of this article is to correlate detailed clinical information with molecular data in order to improve our understanding of the genotype-phenotype correlation of RSH/SLOS and to report the development of PCR-based assays that will allow more rapid mutation analysis. 10995508 2000
CUI: C0175694
Disease: Smith-Lemli-Opitz Syndrome
Smith-Lemli-Opitz Syndrome 		1.000 Biomarker disease GENOMICS_ENGLAND The Smith-Lemli-Opitz syndrome. 10807690 2000
CUI: C0175694
Disease: Smith-Lemli-Opitz Syndrome
Smith-Lemli-Opitz Syndrome 		1.000 Biomarker disease GENOMICS_ENGLAND Smith-Lemli-Opitz syndrome presenting with persisting nuchal oedema and non-immune hydrops. 10215064 1999
CUI: C0175694
Disease: Smith-Lemli-Opitz Syndrome
Smith-Lemli-Opitz Syndrome 		1.000 Biomarker disease GENOMICS_ENGLAND To establish that defects in this gene cause SLOS, we sequenced cDNA clones from SLOS patients. 9634533 1998
CUI: C0175694
Disease: Smith-Lemli-Opitz Syndrome
Smith-Lemli-Opitz Syndrome 		1.000 Biomarker disease GENOMICS_ENGLAND Smith-Lemli-Opitz syndrome: a variable clinical and biochemical phenotype. 9678700 1998
CUI: C0175694
Disease: Smith-Lemli-Opitz Syndrome
Smith-Lemli-Opitz Syndrome 		1.000 Biomarker disease GENOMICS_ENGLAND To establish that defects in this gene cause SLOS, we sequenced cDNA clones from SLOS patients. 9634533 1998
CUI: C0175694
Disease: Smith-Lemli-Opitz Syndrome
Smith-Lemli-Opitz Syndrome 		1.000 GeneticVariation disease UNIPROT Our results strongly suggest that defects in the DHCR7 gene cause the SLOS. 9653161 1998
CUI: C0175694
Disease: Smith-Lemli-Opitz Syndrome
Smith-Lemli-Opitz Syndrome 		1.000 GeneticVariation disease UNIPROT Our data demonstrate that Smith-Lemli-Opitz syndrome is caused by mutations in the gene coding for 7-dehydrocholesterol reductase. 9683613 1998
CUI: C0175694
Disease: Smith-Lemli-Opitz Syndrome
Smith-Lemli-Opitz Syndrome 		1.000 Biomarker disease CLINGEN Our results strongly suggest that defects in the DHCR7 gene cause the SLOS. 9653161 1998
CUI: C0175694
Disease: Smith-Lemli-Opitz Syndrome
Smith-Lemli-Opitz Syndrome 		1.000 Biomarker disease CLINGEN To establish that defects in this gene cause SLOS, we sequenced cDNA clones from SLOS patients. 9634533 1998
CUI: C0175694
Disease: Smith-Lemli-Opitz Syndrome
Smith-Lemli-Opitz Syndrome 		1.000 Biomarker disease GENOMICS_ENGLAND Smith-Lemli-Opitz syndrome-type II: multiple congenital anomalies with male pseudohermaphroditism and frequent early lethality. 3812577 1987