SCD, stearoyl-CoA desaturase, 6319

N. diseases: 225; N. variants: 4
Source: ALL
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: C0149613
Disease: Acute mastitis
Acute mastitis 		disease Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases Disease or Syndrome 1 0.010 None 1.000 1 2016 2016
CUI: C0155434
Disease: Patulous eustachian tube
Patulous eustachian tube 		disease Disease or Syndrome 1 0.010 None 1.000 1 2019 2019
CUI: C0234656
Disease: Pain around eye
Pain around eye 		phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 1 0.010 None 1.000 1 2018 2018
CUI: C1260402
Disease: Splenic sequestration
Splenic sequestration 		disease Disease or Syndrome 1 0.010 None 1.000 1 2019 2019
CUI: C0376323
Disease: Congestive Ophthalmopathy
Congestive Ophthalmopathy 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Immune System Diseases; Endocrine System Diseases Disease or Syndrome 2 0.300 None 1.000 1 2007 2007
CUI: C0424810
Disease: Periorbital swelling
Periorbital swelling 		phenotype Skin and Connective Tissue Diseases; Immune System Diseases; Cardiovascular Diseases Sign or Symptom 2 0.010 None 1.000 1 2018 2018
CUI: C1531582
Disease: Anterior segment ischemia
Anterior segment ischemia 		phenotype Pathological Conditions, Signs and Symptoms Disease or Syndrome 2 0.010 None 1.000 1 2018 2018
CUI: C1563709
Disease: Myopathic Ophthalmopathy
Myopathic Ophthalmopathy 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Immune System Diseases; Endocrine System Diseases Disease or Syndrome 2 0.300 None 1.000 1 2007 2007
CUI: C4553478
Disease: Infantile Obesity
Infantile Obesity 		phenotype Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases Disease or Syndrome 5 0.010 None < 0.001 1 2019 2019
CUI: C0750197
Disease: Sustained ventricular tachycardia
Sustained ventricular tachycardia 		disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 9 1 0.010 None 1.000 1 2019 2019
CUI: C4527152
Disease: Tricuspid Valve Regurgitation Velocity
Tricuspid Valve Regurgitation Velocity 		phenotype Sign or Symptom 9 0.010 None 1.000 1 2019 2019
CUI: C0410574
Disease: Synovial Hypertrophy
Synovial Hypertrophy 		disease Musculoskeletal Diseases Disease or Syndrome 12 0.010 None 1.000 1 2019 2019
CUI: C1859486
Disease: BIETTI CRYSTALLINE CORNEORETINAL DYSTROPHY
BIETTI CRYSTALLINE CORNEORETINAL DYSTROPHY 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 12 36 0.010 None 1.000 1 2010 2010
CUI: C3825414
Disease: Pain in children
Pain in children 		phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 12 0.010 None 1.000 1 2018 2018
CUI: C3150943
Disease: Long Qt Syndrome 2
Long Qt Syndrome 2 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Disease or Syndrome 13 267 0.010 None 1.000 1 2011 2011
CUI: C0877438
Disease: Non-ischemic cardiomyopathy
Non-ischemic cardiomyopathy 		disease Cardiovascular Diseases Disease or Syndrome 15 0.010 None 1.000 1 2017 2017
CUI: C4284586
Disease: Perinatal depression in mother
Perinatal depression in mother 		disease Mental Disorders Mental or Behavioral Dysfunction 15 2 0.010 None 1.000 1 2009 2009
CUI: C0231311
Disease: Jet Lag Syndrome
Jet Lag Syndrome 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders Disease or Syndrome 17 0.010 None 1.000 1 2017 2017
CUI: C0553707
Disease: Malignant epithelioma
Malignant epithelioma 		disease Neoplasms Neoplastic Process 18 0.200 None 1.000 1 2002 2002
CUI: C4551647
Disease: Long QT Syndrome 1
Long QT Syndrome 1 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Disease or Syndrome 20 240 0.010 None 1.000 1 2012 2012
CUI: C1275684
Disease: Meibomian gland dysfunction
Meibomian gland dysfunction 		disease Eye Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 23 0.020 None 1.000 2 2016 2018
CUI: C1096458
Disease: Vascular occlusion
Vascular occlusion 		disease Cardiovascular Diseases Disease or Syndrome 30 2 0.010 None 1.000 1 2018 2018
CUI: C1141890
Disease: Congenital long QT syndrome
Congenital long QT syndrome 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Disease or Syndrome 30 54 0.010 None 1.000 1 2010 2010
CUI: C0019880
Disease: Homocystinuria
Homocystinuria 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Nervous System Diseases Disease or Syndrome 39 27 0.010 None 1.000 1 2017 2017
CUI: C0240602
Disease: opioid use
opioid use 		disease Mental or Behavioral Dysfunction 39 5 0.010 None 1.000 1 2018 2018