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: C0947622
Disease: Cholecystolithiasis
Cholecystolithiasis
disease Digestive System Diseases Disease or Syndrome 156 62 0.010 None 1.000 1 2010 2010
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 234 368 0.010 None 1.000 1 2009 2009
CUI: C0035579
Disease: Rickets
Rickets
disease Nutritional and Metabolic Diseases; Musculoskeletal Diseases Disease or Syndrome 72 16 0.010 None 1.000 1 2018 2018
CUI: C0036337
Disease: Schizoaffective Disorder
Schizoaffective Disorder
disease Mental Disorders Mental or Behavioral Dysfunction 126 61 0.010 None 1.000 1 2019 2019
CUI: C0854706
Disease: Neonatal infection
Neonatal infection
disease Disease or Syndrome 17 0.010 None 1.000 1 2019 2019
CUI: C0853662
Disease: Oestrogen deficiency
Oestrogen deficiency
disease Disease or Syndrome 85 1 0.010 None < 0.001 1 2017 2017
CUI: C0852949
Disease: Arteriopathic disease
Arteriopathic disease
group Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 101 14 0.010 None 1.000 1 2019 2019
CUI: C0037315
Disease: Sleep Apnea Syndromes
Sleep Apnea Syndromes
disease Respiratory Tract Diseases; Nervous System Diseases Disease or Syndrome 148 18 0.010 None 1.000 1 2011 2011
CUI: C0037383
Disease: Sneezing
Sneezing
phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 21 2 0.010 None 1.000 1 2019 2019
CUI: C0752304
Disease: Hypoxic-Ischemic Encephalopathy
Hypoxic-Ischemic Encephalopathy
disease Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 182 12 0.010 None < 0.001 1 2020 2020
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma
disease Neoplasms; Eye Diseases Neoplastic Process 853 193 0.010 None 1.000 1 2013 2013
CUI: C0855228
Disease: Eating disorder symptom
Eating disorder symptom
phenotype Nutritional and Metabolic Diseases; Mental Disorders Mental or Behavioral Dysfunction 20 3 0.010 None 1.000 1 2017 2017
CUI: C0033687
Disease: Proteinuria
Proteinuria
phenotype Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Finding 239 20 0.010 None 1.000 1 2005 2005
CUI: C0917801
Disease: Sleeplessness
Sleeplessness
phenotype Nervous System Diseases; Mental Disorders Sign or Symptom 174 30 0.010 None 1.000 1 2019 2019
CUI: C0033975
Disease: Psychotic Disorders
Psychotic Disorders
group Mental Disorders Mental or Behavioral Dysfunction 560 179 0.010 None 1.000 1 2018 2018
CUI: C0870082
Disease: Hyperkeratosis
Hyperkeratosis
disease Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Disease or Syndrome 176 19 0.010 None 1.000 1 2008 2008
CUI: C0034885
Disease: Rectal Neoplasms
Rectal Neoplasms
group Digestive System Diseases; Neoplasms Neoplastic Process 93 21 0.010 None 1.000 1 2019 2019
Adult attention deficit hyperactivity disorder
disease Mental Disorders Mental or Behavioral Dysfunction 20 6 0.010 None 1.000 1 2014 2014
CUI: C0856727
Disease: Cholesterol gallstones
Cholesterol gallstones
disease Digestive System Diseases Disease or Syndrome 51 12 0.010 None 1.000 1 2010 2010
Respiratory Distress Syndrome, Newborn
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases Disease or Syndrome 177 37 0.010 None 1.000 1 2018 2018
Respiratory Distress Syndrome, Adult
disease Respiratory Tract Diseases Disease or Syndrome 434 60 0.010 None 1.000 1 2014 2014
CUI: C0038436
Disease: Post-Traumatic Stress Disorder
Post-Traumatic Stress Disorder
disease Mental Disorders Mental or Behavioral Dysfunction 418 117 0.010 None 1.000 1 2017 2017
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases Disease or Syndrome 86 163 0.010 None 1.000 1 2012 2012
CUI: C0038525
Disease: Subarachnoid Hemorrhage
Subarachnoid Hemorrhage
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 501 26 0.010 None 1.000 1 2017 2017
CUI: C0746102
Disease: Chronic lung disease
Chronic lung disease
disease Respiratory Tract Diseases Disease or Syndrome 133 12 0.010 None 1.000 1 2005 2005