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: C0202075
Disease: 17 Hydroxyprogesterone measurement
17 Hydroxyprogesterone measurement
phenotype Laboratory Procedure 7 19 0.100 None 1.000 1 1 2019 2019
CUI: C0852654
Disease: 21-hydroxylase deficiency
21-hydroxylase deficiency
disease Disease or Syndrome 55 28 0.080 None 1.000 8 1978 1990
CUI: C0000737
Disease: Abdominal Pain
Abdominal Pain
phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 302 18 0.100 None 0
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior
phenotype Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 910 121 0.010 None 1.000 1 1993 1993
CUI: C2132198
Disease: Abnormal blistering of the skin
Abnormal blistering of the skin
phenotype Finding 75 10 0.100 None 0
CUI: C0231557
Disease: Abnormal bone formation
Abnormal bone formation
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Acquired Abnormality 12 1 0.010 None 1.000 1 2019 2019
CUI: C4021662
Disease: Abnormal endocardium morphology
Abnormal endocardium morphology
phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Anatomical Abnormality 23 0.100 None 0
CUI: C4025758
Disease: Abnormal myocardium morphology
Abnormal myocardium morphology
phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Anatomical Abnormality 19 0.100 None 0
CUI: C1837388
Disease: Abnormal pattern of respiration
Abnormal pattern of respiration
phenotype Finding 20 1 0.100 None 0
CUI: C3164445
Disease: Abnormality of aortic valve
Abnormality of aortic valve
disease Anatomical Abnormality 50 2 0.100 None 0
CUI: C4025726
Disease: Abnormality of the pleura
Abnormality of the pleura
disease Anatomical Abnormality 10 0.100 None 0
CUI: C4025826
Disease: Abnormality of the urethra
Abnormality of the urethra
disease Anatomical Abnormality 4 0.100 None 0
CUI: C0000887
Disease: Acantholysis
Acantholysis
phenotype Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Pathologic Function 11 0.100 None 0
CUI: C0702166
Disease: Acne
Acne
disease Skin and Connective Tissue Diseases Disease or Syndrome 167 11 0.100 None 0
CUI: C0271907
Disease: Acquired aplastic anemia
Acquired aplastic anemia
disease Hemic and Lymphatic Diseases Disease or Syndrome 64 12 0.030 None 1.000 3 2012 2017
CUI: C0001175
Disease: Acquired Immunodeficiency Syndrome
Acquired Immunodeficiency Syndrome
group Infections; Immune System Diseases Disease or Syndrome 243 42 0.140 None 1.000 5 2 1999 2009
ACQUIRED IMMUNODEFICIENCY SYNDROME, PROGRESSION TO
phenotype Finding 147 526 0.100 None 1.000 3 61 2009 2015
CUI: C0600033
Disease: Acquired Kyphoscoliosis
Acquired Kyphoscoliosis
disease Musculoskeletal Diseases Acquired Abnormality 149 2 0.010 None 1.000 1 2019 2019
CUI: C0701807
Disease: Acute anterior uveitis
Acute anterior uveitis
disease Eye Diseases Disease or Syndrome 90 30 0.080 None 1.000 8 1980 2019
CUI: C0742343
Disease: Acute Chest Syndrome
Acute Chest Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 405 135 0.010 None 1.000 1 1 2007 2007
CUI: C0948089
Disease: Acute Coronary Syndrome
Acute Coronary Syndrome
disease Cardiovascular Diseases Disease or Syndrome 440 139 0.010 None 1.000 1 2007 2007
CUI: C0856825
Disease: Acute GVH disease
Acute GVH disease
disease Immune System Diseases Disease or Syndrome 294 49 0.030 None 0.667 3 2000 2016
CUI: C0343752
Disease: Acute HIV infection
Acute HIV infection
disease Infections; Immune System Diseases Disease or Syndrome 48 0.010 None 1.000 1 2005 2005
CUI: C0275518
Disease: Acute infectious disease
Acute infectious disease
group Pathological Conditions, Signs and Symptoms; Infections Disease or Syndrome 198 5 0.010 None 1.000 1 2013 2013
CUI: C0085669
Disease: Acute leukemia
Acute leukemia
disease Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 639 50 0.030 None 1.000 3 1981 2013