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: C0795956
Disease: Chylomicron retention disease
Chylomicron retention disease
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases Disease or Syndrome 10 6 0.020 None 1.000 2 2009 2011
CUI: C0085932
Disease: Bullous Dermatitis
Bullous Dermatitis
group Skin and Connective Tissue Diseases Disease or Syndrome 10 1 0.010 None 1.000 1 2003 2003
CUI: C0154038
Disease: Benign neoplasm of thyroid gland
Benign neoplasm of thyroid gland
disease Neoplasms; Endocrine System Diseases Neoplastic Process 10 4 0.010 None 1.000 1 2010 2010
CUI: C0750977
Disease: Recurrent Brain Neoplasm
Recurrent Brain Neoplasm
disease Neoplasms; Nervous System Diseases Neoplastic Process 39 0.300 None 1.000 1 2017 2017
Benign neoplasm of brain, unspecified
disease Neoplasms; Nervous System Diseases Neoplastic Process 41 0.300 None 1.000 1 2017 2017
CUI: C0750979
Disease: Primary malignant neoplasm of brain
Primary malignant neoplasm of brain
disease Neoplasms; Nervous System Diseases Neoplastic Process 41 0.300 None 1.000 1 2017 2017
CUI: C0575157
Disease: Deformity of spine
Deformity of spine
disease Anatomical Abnormality 58 2 0.010 None 1.000 1 2001 2001
CUI: C3888018
Disease: Congenital Hyperinsulinism
Congenital Hyperinsulinism
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases Disease or Syndrome 62 27 0.010 None 1.000 1 2009 2009
CUI: C0750974
Disease: Brain Tumor, Primary
Brain Tumor, Primary
disease Neoplasms; Nervous System Diseases Neoplastic Process 122 8 0.300 None 1.000 1 2017 2017
CUI: C0043094
Disease: Weight Gain
Weight Gain
phenotype Pathological Conditions, Signs and Symptoms Finding 124 12 0.300 None 1.000 1 2008 2008
CUI: C1527390
Disease: Neoplasms, Intracranial
Neoplasms, Intracranial
group Neoplasms; Nervous System Diseases Neoplastic Process 157 4 0.300 None 1.000 1 2017 2017
CUI: C1512981
Disease: Mammary Tumorigenesis
Mammary Tumorigenesis
phenotype Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 162 5 0.010 None 1.000 1 2008 2008
Malformations of Cortical Development, Group II
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 180 101 0.010 None 1.000 1 2017 2017
CUI: C1527304
Disease: Allergic Reaction
Allergic Reaction
phenotype Immune System Diseases Pathologic Function 197 1019 0.100 None 1.000 1 1 2017 2017
CUI: C2004493
Disease: Leukemia, B-Cell
Leukemia, B-Cell
disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 239 2 0.010 None 1.000 1 2016 2016
CUI: C3489532
Disease: Cone-Rod Dystrophy 2
Cone-Rod Dystrophy 2
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 254 51 0.010 None 1.000 1 1 2009 2009
CUI: C0200641
Disease: Blood basophil count (lab test)
Blood basophil count (lab test)
phenotype Laboratory Procedure 272 452 0.100 None 1.000 1 1 2016 2016
CUI: C0039685
Disease: Tetralogy of Fallot
Tetralogy of Fallot
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality 274 83 0.010 None 1.000 1 2019 2019
CUI: C0206682
Disease: Follicular thyroid carcinoma
Follicular thyroid carcinoma
disease Neoplasms Neoplastic Process 293 28 0.010 None 1.000 1 2010 2010
CUI: C0153633
Disease: Malignant neoplasm of brain
Malignant neoplasm of brain
disease Neoplasms; Nervous System Diseases Neoplastic Process 294 16 0.300 None 1.000 1 2017 2017
CUI: C0035126
Disease: Reperfusion Injury
Reperfusion Injury
disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Injury or Poisoning 300 0.010 None 1.000 1 2006 2006
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases Neoplastic Process 311 827 0.010 None 1.000 1 2001 2001
CUI: C0200635
Disease: Lymphocyte Count measurement
Lymphocyte Count measurement
phenotype Laboratory Procedure 338 456 0.100 None 1.000 1 1 2016 2016
CUI: C0027726
Disease: Nephrotic Syndrome
Nephrotic Syndrome
group Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 384 45 0.010 None 1.000 1 2008 2008
CUI: C0238461
Disease: Anaplastic thyroid carcinoma
Anaplastic thyroid carcinoma
disease Neoplasms Neoplastic Process 392 16 0.010 None 1.000 1 2010 2010