DHCR7, 7-dehydrocholesterol reductase, 1717

N. diseases: 14; N. variants: 93
Source: CURATED ×
Disease Type Disease Class Semantic Type N. genes d N. SNPs d Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
CUI: C0175694
Disease: Smith-Lemli-Opitz Syndrome
Smith-Lemli-Opitz Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 1 92 1.000 definitive 0.987 35 92 1987 2018
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		group Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 447 6 0.450 None 1.000 1 2000 2016
CUI: C0086543
Disease: Cataract
Cataract 		disease Eye Diseases Acquired Abnormality 37 13 0.400 None 1.000 1 2016 2016
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		disease Mental Disorders Mental or Behavioral Dysfunction 261 181 0.400 None 1.000 1 2003 2003
CUI: C0239946
Disease: Fibrosis, Liver
Fibrosis, Liver 		disease Pathological Conditions, Signs and Symptoms; Digestive System Diseases Disease or Syndrome 105 1 0.340 None 1.000 1 2012 2018
CUI: C2713347
Disease: 7-Dehydrocholesterol Reductase Deficiency
7-Dehydrocholesterol Reductase Deficiency 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 1 0.310 None 1.000 11 2001 2018
CUI: C0282644
Disease: Smith-Lemli-Opitz Syndrome, Type II
Smith-Lemli-Opitz Syndrome, Type II 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 1 0.300 None 1.000 11 2001 2018
CUI: C0282643
Disease: Smith-Lemli-Opitz Syndrome, Type I
Smith-Lemli-Opitz Syndrome, Type I 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 1 0.300 None 1.000 11 2001 2018
CUI: C0005944
Disease: Metabolic Bone Disorder
Metabolic Bone Disorder 		group Nutritional and Metabolic Diseases; Musculoskeletal Diseases Disease or Syndrome 14 0.300 None 1.000 1 2014 2014
CUI: C0023890
Disease: Liver Cirrhosis
Liver Cirrhosis 		disease Pathological Conditions, Signs and Symptoms; Digestive System Diseases Disease or Syndrome 103 20 0.300 None 1.000 1 2014 2014
CUI: C0036875
Disease: Disorders of Sex Development
Disorders of Sex Development 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Congenital Abnormality 7 0.300 None 1.000 1 2016 2016
CUI: C0029453
Disease: Osteopenia
Osteopenia 		disease Nutritional and Metabolic Diseases; Musculoskeletal Diseases Disease or Syndrome 15 23 0.300 None 1.000 1 2014 2014
CUI: C0041349
Disease: Nephritis, Tubulointerstitial
Nephritis, Tubulointerstitial 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 21 1 0.300 strong 0
CUI: C0027707
Disease: Nephritis, Interstitial
Nephritis, Interstitial 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 24 0.300 strong 0