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: C0002888
Disease: Anemia, Megaloblastic
Anemia, Megaloblastic 		disease Hemic and Lymphatic Diseases Disease or Syndrome 26 2 0.110 None 1.000 1 1998 1998
CUI: C0035450
Disease: Rheumatoid Nodule
Rheumatoid Nodule 		disease Skin and Connective Tissue Diseases; Musculoskeletal Diseases Acquired Abnormality 26 3 0.010 None 1.000 1 2007 2007
CUI: C0563243
Disease: Poor coordination
Poor coordination 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 26 8 0.100 None 0
CUI: C0042847
Disease: Vitamin B 12 Deficiency
Vitamin B 12 Deficiency 		disease Nutritional and Metabolic Diseases Disease or Syndrome 29 11 0.220 None 1.000 3 1 2003 2010
CUI: C3714731
Disease: Early childhood caries
Early childhood caries 		disease Stomatognathic Diseases Disease or Syndrome 30 8 0.010 None 1.000 1 1 2017 2017
CUI: C0559031
Disease: Functional Gastrointestinal Disorders
Functional Gastrointestinal Disorders 		disease Digestive System Diseases Disease or Syndrome 33 0.300 None 1.000 1 2009 2009
CUI: C1855119
Disease: Methylmalonic aciduria
Methylmalonic aciduria 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 33 4 0.010 None 1.000 1 1997 1997
CUI: C3665464
Disease: Dementia due to Alzheimer's disease (disorder)
Dementia due to Alzheimer's disease (disorder) 		disease Nervous System Diseases; Mental Disorders Mental or Behavioral Dysfunction 35 1 0.010 None 1.000 1 2004 2004
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 0.130 None 1.000 3 1 1997 2005
CUI: C0268583
Disease: Methylmalonic acidemia
Methylmalonic acidemia 		phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 44 35 0.010 None 1.000 1 1997 1997
CUI: C3146250
Disease: Stage III Colorectal Cancer AJCC v7
Stage III Colorectal Cancer AJCC v7 		disease Neoplastic Process 44 3 0.010 None 1.000 1 1 2011 2011
CUI: C0677949
Disease: Stage III Colorectal Cancer
Stage III Colorectal Cancer 		disease Digestive System Diseases; Neoplasms Neoplastic Process 45 3 0.010 None 1.000 1 1 2011 2011
CUI: C0588008
Disease: Severe depression
Severe depression 		disease Mental Disorders Mental or Behavioral Dysfunction 46 2 0.310 None 1.000 1 2008 2008
CUI: C0917731
Disease: Male sterility
Male sterility 		phenotype Male Urogenital Diseases Finding 48 0.300 None 1.000 1 2006 2006
CUI: C1853238
Disease: Conotruncal defect
Conotruncal defect 		disease Congenital Abnormality 51 45 0.020 None 1.000 2 1 2018 2019
CUI: C0001969
Disease: Alcoholic Intoxication
Alcoholic Intoxication 		disease Chemically-Induced Disorders; Mental Disorders Mental or Behavioral Dysfunction 52 4 0.300 None 1.000 1 2008 2008
CUI: C1389016
Disease: ATRIOVENTRICULAR CANAL DEFECT
ATRIOVENTRICULAR CANAL DEFECT 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Anatomical Abnormality 55 14 0.010 None 1.000 1 2010 2010
CUI: C1389018
Disease: Atrioventricular Septal Defect
Atrioventricular Septal Defect 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality 58 19 0.010 None 1.000 1 2010 2010
CUI: C1858991
Disease: Childhood Ataxia with Central Nervous System Hypomyelinization
Childhood Ataxia with Central Nervous System Hypomyelinization 		disease Nervous System Diseases Disease or Syndrome 59 63 0.300 None 1.000 1 2005 2005
CUI: C0024620
Disease: Primary Malignant Liver Neoplasm
Primary Malignant Liver Neoplasm 		disease Digestive System Diseases; Neoplasms Neoplastic Process 60 4 0.010 None 1.000 1 1 2012 2012
CUI: C0025281
Disease: Meniere Disease
Meniere Disease 		disease Otorhinolaryngologic Diseases Disease or Syndrome 69 36 0.010 None 1.000 1 1 2013 2013
CUI: C0016412
Disease: Folic Acid Deficiency
Folic Acid Deficiency 		disease Nutritional and Metabolic Diseases Disease or Syndrome 70 8 0.030 None 0.667 3 1 2009 2015
CUI: C0848676
Disease: Subfertility, Male
Subfertility, Male 		phenotype Male Urogenital Diseases Sign or Symptom 70 2 0.300 None 1.000 1 2006 2006
CUI: C0751075
Disease: Cancer of Digestive System
Cancer of Digestive System 		disease Digestive System Diseases; Neoplasms Neoplastic Process 71 15 0.010 None < 0.001 1 1 2013 2013
CUI: C4275242
Disease: Sudden sensorineural hearing loss
Sudden sensorineural hearing loss 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 72 38 0.020 None 1.000 2 1 2006 2013