Source: GENOMICS_ENGLAND

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1717
Gene Symbol: DHCR7
DHCR7
CUI: C0175694
Disease: Smith-Lemli-Opitz Syndrome
Smith-Lemli-Opitz Syndrome 		1.000 Biomarker GENOMICS_ENGLAND A novel mutation of the human 7-dehydrocholesterol reductase gene reduces enzyme activity in patients with holoprosencephaly. 15013448

2004
Entrez Id: 1717
Gene Symbol: DHCR7
DHCR7
CUI: C0175694
Disease: Smith-Lemli-Opitz Syndrome
Smith-Lemli-Opitz Syndrome 		1.000 Biomarker GENOMICS_ENGLAND Normal cognition and behavior in a Smith-Lemli-Opitz syndrome patient who presented with Hirschsprung disease. 14556255

2003
Entrez Id: 1717
Gene Symbol: DHCR7
DHCR7
CUI: C0175694
Disease: Smith-Lemli-Opitz Syndrome
Smith-Lemli-Opitz Syndrome 		1.000 Biomarker GENOMICS_ENGLAND The Smith-Lemli-Opitz syndrome. 10807690

2000
Entrez Id: 1717
Gene Symbol: DHCR7
DHCR7
CUI: C0175694
Disease: Smith-Lemli-Opitz Syndrome
Smith-Lemli-Opitz Syndrome 		1.000 Biomarker GENOMICS_ENGLAND Smith-Lemli-Opitz syndrome presenting with persisting nuchal oedema and non-immune hydrops. 10215064

1999
Entrez Id: 1717
Gene Symbol: DHCR7
DHCR7
CUI: C0175694
Disease: Smith-Lemli-Opitz Syndrome
Smith-Lemli-Opitz Syndrome 		1.000 Biomarker GENOMICS_ENGLAND To establish that defects in this gene cause SLOS, we sequenced cDNA clones from SLOS patients. 9634533

1998
Entrez Id: 1717
Gene Symbol: DHCR7
DHCR7
CUI: C0175694
Disease: Smith-Lemli-Opitz Syndrome
Smith-Lemli-Opitz Syndrome 		1.000 Biomarker GENOMICS_ENGLAND Smith-Lemli-Opitz syndrome: a variable clinical and biochemical phenotype. 9678700

1998
Entrez Id: 1717
Gene Symbol: DHCR7
DHCR7
CUI: C0175694
Disease: Smith-Lemli-Opitz Syndrome
Smith-Lemli-Opitz Syndrome 		1.000 Biomarker GENOMICS_ENGLAND To establish that defects in this gene cause SLOS, we sequenced cDNA clones from SLOS patients. 9634533

1998
Entrez Id: 1717
Gene Symbol: DHCR7
DHCR7
CUI: C0175694
Disease: Smith-Lemli-Opitz Syndrome
Smith-Lemli-Opitz Syndrome 		1.000 Biomarker GENOMICS_ENGLAND Smith-Lemli-Opitz syndrome-type II: multiple congenital anomalies with male pseudohermaphroditism and frequent early lethality. 3812577

1987