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: C3151227
Disease: RETINITIS PIGMENTOSA 59
RETINITIS PIGMENTOSA 59 		disease Disease or Syndrome 1 3 0.700 None 1.000 8 3 2011 2017
CUI: C4693376
Disease: DEVELOPMENTAL DELAY AND SEIZURES WITH OR WITHOUT MOVEMENT ABNORMALITIES
DEVELOPMENTAL DELAY AND SEIZURES WITH OR WITHOUT MOVEMENT ABNORMALITIES 		disease Disease or Syndrome 1 3 0.600 strong 1.000 2 3 2016 2017
CUI: C1394494
Disease: Cystocele (female)
Cystocele (female) 		disease Pathological Conditions, Signs and Symptoms; Digestive System Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 2 0.010 None 1.000 1 2017 2017
CUI: C0010695
Disease: Cystocele
Cystocele 		disease Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 4 0.010 None 1.000 1 2017 2017
CUI: C1829703
Disease: Carnitine palmitoyl transferase 1A deficiency
Carnitine palmitoyl transferase 1A deficiency 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 4 55 0.010 None 1.000 1 2004 2004
CUI: C0342770
Disease: Fumarase deficiency
Fumarase deficiency 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Behavior and Behavior Mechanisms Disease or Syndrome 5 90 0.010 None 1.000 1 1987 1987
CUI: C2717866
Disease: Vestibulodynia
Vestibulodynia 		disease Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome 5 0.010 None 1.000 1 2016 2016
CUI: C0267778
Disease: Adhesion of intestine
Adhesion of intestine 		disease Digestive System Diseases Acquired Abnormality 6 0.010 None 1.000 1 2017 2017
CUI: C1853698
Disease: Rippling muscle disease
Rippling muscle disease 		disease Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 6 6 0.010 None 1.000 1 2019 2019
CUI: C3178803
Disease: Social Anhedonia
Social Anhedonia 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 6 4 0.010 None 1.000 1 2000 2000
CUI: C0267725
Disease: Paraesophageal hernia
Paraesophageal hernia 		phenotype Pathological Conditions, Signs and Symptoms Disease or Syndrome 7 0.010 None 1.000 1 2017 2017
CUI: C4040349
Disease: Bacteremia due to Methicillin resistant Staphylococcus aureus
Bacteremia due to Methicillin resistant Staphylococcus aureus 		disease Disease or Syndrome 7 0.010 None 1.000 1 2017 2017
CUI: C4735570
Disease: Opioid Overdose
Opioid Overdose 		phenotype Chemically-Induced Disorders; Mental Disorders Mental or Behavioral Dysfunction 7 0.010 None 1.000 1 2019 2019
CUI: C0040124
Disease: Thyroglossal Cyst
Thyroglossal Cyst 		disease Neoplasms Congenital Abnormality 8 0.010 None 1.000 1 2020 2020
CUI: C0677866
Disease: Brain Stem Neoplasms
Brain Stem Neoplasms 		group Neoplasms; Nervous System Diseases Neoplastic Process 8 0.010 None 1.000 1 2018 2018
CUI: C2747802
Disease: Bile acid malabsorption
Bile acid malabsorption 		disease Digestive System Diseases; Nutritional and Metabolic Diseases Disease or Syndrome 9 0.010 None 1.000 1 2017 2017
CUI: C0278727
Disease: Small cell lung cancer recurrent
Small cell lung cancer recurrent 		disease Neoplasms; Respiratory Tract Diseases Neoplastic Process 10 0.010 None 1.000 1 2018 2018
CUI: C0342790
Disease: Carnitine palmitoyl transferase 2 deficiency
Carnitine palmitoyl transferase 2 deficiency 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 11 29 0.030 None 1.000 3 1994 2014
CUI: C0269084
Disease: Vulvar Vestibulitis
Vulvar Vestibulitis 		disease Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome 11 0.010 None 1.000 1 2016 2016
CUI: C0007762
Disease: Cerebellar Neoplasms
Cerebellar Neoplasms 		group Neoplasms; Nervous System Diseases Neoplastic Process 12 5 0.010 None 1.000 1 2013 2013
CUI: C0019326
Disease: Ventral Hernia
Ventral Hernia 		phenotype Pathological Conditions, Signs and Symptoms Anatomical Abnormality 13 0.010 None 1.000 1 2020 2020
CUI: C0278726
Disease: Small cell lung cancer extensive stage
Small cell lung cancer extensive stage 		disease Neoplasms; Respiratory Tract Diseases Neoplastic Process 13 1 0.010 None 1.000 1 2018 2018
CUI: C0333047
Disease: Recession
Recession 		disease Anatomical Abnormality 13 2 0.010 None 1.000 1 2018 2018
CUI: C0278502
Disease: recurrent gastric cancer
recurrent gastric cancer 		disease Neoplastic Process 16 0.010 None 1.000 1 2018 2018
CUI: C0034345
Disease: Pyruvate Dehydrogenase Complex Deficiency Disease
Pyruvate Dehydrogenase Complex Deficiency Disease 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 18 4 0.010 None 1.000 1 1987 1987