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.
Morphologically abnormal structure (morphologic abnormality)
group Anatomical Abnormality 20 0.010 None 1.000 1 2005 2005
CUI: C0751606
Disease: Adult Acute Lymphocytic Leukemia
Adult Acute Lymphocytic Leukemia
disease Neoplastic Process 860 154 0.010 None 1.000 1 1996 1996
CUI: C0919909
Disease: Tonic clonic movements
Tonic clonic movements
disease Disease or Syndrome 22 0.010 None 1.000 1 2016 2016
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion
phenotype Neoplastic Process 6626 169 0.010 None 1.000 1 2019 2019
CUI: C1510420
Disease: Cavitation
Cavitation
disease Anatomical Abnormality 47 0.010 None 1.000 1 2018 2018
Human immunodeficiency virus (HIV) II infection category B1
disease Disease or Syndrome 985 56 0.010 None 1.000 1 1992 1992
CUI: C0011570
Disease: Mental Depression
Mental Depression
disease Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 1478 271 0.010 None 1.000 1 2018 2018
CUI: C0344315
Disease: Depressed mood
Depressed mood
phenotype Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 1461 269 0.010 None 1.000 1 2018 2018
CUI: C0242510
Disease: Drug usage
Drug usage
phenotype Chemically-Induced Disorders; Mental Disorders Mental or Behavioral Dysfunction 170 21 0.010 None 1.000 1 2018 2018
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 757 47 0.010 None 1.000 1 2019 2019
CUI: C0035344
Disease: Retinopathy of Prematurity
Retinopathy of Prematurity
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 202 16 0.020 None 1.000 2 2001 2016
Familial medullary thyroid carcinoma
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Endocrine System Diseases Neoplastic Process 56 45 0.010 None 1.000 1 2008 2008
CUI: C0162635
Disease: Angelman Syndrome
Angelman Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 94 135 0.010 None 1.000 1 2018 2018
CUI: C1859726
Disease: ARTERIAL TORTUOSITY SYNDROME
ARTERIAL TORTUOSITY SYNDROME
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases Disease or Syndrome 37 23 0.010 None 1.000 1 2018 2018
CUI: C0019163
Disease: Hepatitis B
Hepatitis B
disease Digestive System Diseases; Infections Disease or Syndrome 1449 519 0.010 None 1.000 1 2012 2012
CUI: C0023903
Disease: Liver neoplasms
Liver neoplasms
group Digestive System Diseases; Neoplasms Neoplastic Process 1424 7 0.010 None 1.000 1 2012 2012
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
disease Digestive System Diseases; Neoplasms Neoplastic Process 5725 942 0.010 None 1.000 1 2012 2012
CUI: C0020502
Disease: Hyperparathyroidism
Hyperparathyroidism
disease Endocrine System Diseases Disease or Syndrome 111 14 0.010 None 1.000 1 2004 2004
CUI: C3463824
Disease: MYELODYSPLASTIC SYNDROME
MYELODYSPLASTIC SYNDROME
group Hemic and Lymphatic Diseases Neoplastic Process 1033 95 0.020 None 1.000 2 1997 2017
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases
group Immune System Diseases Disease or Syndrome 1758 428 0.010 None 1.000 1 2017 2017
CUI: C0004623
Disease: Bacterial Infections
Bacterial Infections
group Infections Disease or Syndrome 616 17 0.010 None 1.000 1 2019 2019
CUI: C0019104
Disease: Hemorrhagic Fevers, Viral
Hemorrhagic Fevers, Viral
disease Infections Disease or Syndrome 57 0.010 None 1.000 1 2008 2008
CUI: C0023092
Disease: Lassa Fever
Lassa Fever
disease Infections Disease or Syndrome 22 0.010 None 1.000 1 2012 2012
CUI: C0042769
Disease: Virus Diseases
Virus Diseases
group Infections Disease or Syndrome 1471 42 0.010 None 1.000 1 2019 2019
CUI: C0085395
Disease: Ureaplasma Infections
Ureaplasma Infections
group Infections Disease or Syndrome 12 0.010 None 1.000 1 2017 2017