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: C0000731
Disease: Abdomen distended
Abdomen distended
phenotype Finding 62 0.100 0
CUI: C4280765
Disease: Abnormal C-peptide level
Abnormal C-peptide level
phenotype Finding 2 0.100 0
CUI: C4021664
Disease: Abnormality of the abdominal wall
Abnormality of the abdominal wall
phenotype Anatomical Abnormality 12 0.100 0
CUI: C4317107
Disease: Abnormality of the thyroid gland
Abnormality of the thyroid gland
phenotype Finding 13 0.100 0
CUI: C0000889
Disease: Acanthosis Nigricans
Acanthosis Nigricans
disease Skin and Connective Tissue Diseases Disease or Syndrome 34 8 0.200 0.900 10 1 1989 2014
CUI: C0001206
Disease: Acromegaly
Acromegaly
disease Endocrine System Diseases; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 75 9 0.100 0
CUI: C0546126
Disease: Acute Confusional Senile Dementia
Acute Confusional Senile Dementia
disease Mental Disorders; Nervous System Diseases Mental or Behavioral Dysfunction 84 2 0.300 1 2014 2014
CUI: C0085669
Disease: Acute leukemia
Acute leukemia
disease Neoplastic Process 491 26 0.010 1.000 1 1985 1985
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia
disease Neoplastic Process 906 99 0.010 1.000 1 1989 1989
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma
group Neoplasms Neoplastic Process 1711 67 0.040 1.000 4 2009 2015
CUI: C1319315
Disease: Adenocarcinoma of large intestine
Adenocarcinoma of large intestine
disease Neoplastic Process 296 127 0.010 1.000 1 2015 2015
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder)
disease Neoplasms; Respiratory Tract Diseases Neoplastic Process 1187 428 0.010 1.000 1 1 2016 2016
CUI: C0001430
Disease: Adenoma
Adenoma
group Neoplasms Neoplastic Process 999 73 0.020 1.000 2 2014 2015
CUI: C1302401
Disease: Adenoma of large intestine
Adenoma of large intestine
disease Neoplastic Process 257 61 0.020 1.000 2 2007 2015
CUI: C4024615
Disease: Adipose tissue loss
Adipose tissue loss
phenotype Finding 3 0.100 0
CUI: C0545053
Disease: Advanced bone age
Advanced bone age
phenotype Finding 49 0.100 0
CUI: C0458247
Disease: Allodynia
Allodynia
phenotype Nervous System Diseases; Pathological Conditions, Signs and Symptoms Finding 83 0.300 1 2008 2008
CUI: C0002152
Disease: Alloxan Diabetes
Alloxan Diabetes
disease Endocrine System Diseases; Nutritional and Metabolic Diseases Experimental Model of Disease 112 0.300 2 1997 2012
CUI: C0750901
Disease: Alzheimer Disease, Early Onset
Alzheimer Disease, Early Onset
disease Mental Disorders; Nervous System Diseases Disease or Syndrome 115 55 0.300 1 2014 2014
CUI: C0494463
Disease: Alzheimer Disease, Late Onset
Alzheimer Disease, Late Onset
disease Mental Disorders; Nervous System Diseases Mental or Behavioral Dysfunction 252 110 0.300 1 2014 2014
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
disease Mental Disorders; Nervous System Diseases Disease or Syndrome 1981 1062 0.590 1.000 11 2002 2016
CUI: C0750900
Disease: Alzheimer's Disease, Focal Onset
Alzheimer's Disease, Focal Onset
disease Mental Disorders; Nervous System Diseases Mental or Behavioral Dysfunction 84 2 0.300 1 2014 2014
CUI: C0002726
Disease: Amyloidosis
Amyloidosis
disease Nutritional and Metabolic Diseases Disease or Syndrome 832 120 0.050 1.000 5 2002 2013
CUI: C1321546
Disease: Anaplastic large B-cell lymphoma
Anaplastic large B-cell lymphoma
disease Neoplastic Process 21 0.020 1.000 2 2009 2010
CUI: C0003128
Disease: Anovulation
Anovulation
phenotype Endocrine System Diseases; Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome 14 8 0.010 1.000 1 1 2015 2015