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: C0162872
Disease: Aortic Aneurysm, Thoracic
Aortic Aneurysm, Thoracic
disease Cardiovascular Diseases Disease or Syndrome 98 66 0.700 strong 1.000 17 2007 2018
MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROME
disease Disease or Syndrome 1 1 0.640 1.000 9 1 1999 2017
Aortic Aneurysm, Familial Thoracic 6
disease Cardiovascular Diseases; Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Disease or Syndrome 2 12 0.600 21 12 2007 2017
CUI: C3279690
Disease: MOYAMOYA DISEASE 5
MOYAMOYA DISEASE 5
disease Disease or Syndrome 1 3 0.600 7 3 1999 2012
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group Behavior and Behavior Mechanisms; Mental Disorders; Nervous System Diseases; Pathological Conditions, Signs and Symptoms Mental or Behavioral Dysfunction 2502 53 0.400 moderate 0
CUI: C0026654
Disease: Moyamoya Disease
Moyamoya Disease
disease Cardiovascular Diseases; Nervous System Diseases Disease or Syndrome 49 32 0.380 0.875 8 2009 2018
CUI: C2931384
Disease: Moyamoya disease 1
Moyamoya disease 1
disease Cardiovascular Diseases; Nervous System Diseases Disease or Syndrome 45 32 0.340 1.000 4 2009 2016
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome
disease Cardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 72 379 0.320 definitive 1.000 9 2000 2016
Congenital aneurysm of ascending aorta
disease Cardiovascular Diseases Congenital Abnormality 57 3 0.320 strong 1.000 2 1 2009 2014
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction
disease Cardiovascular Diseases Disease or Syndrome 965 454 0.310 1.000 2 2014 2015
CUI: C0007820
Disease: Cerebrovascular Disorders
Cerebrovascular Disorders
group Cardiovascular Diseases; Nervous System Diseases Disease or Syndrome 177 19 0.310 strong 1.000 1 2012 2012
CUI: C0013720
Disease: Ehlers-Danlos Syndrome
Ehlers-Danlos Syndrome
disease Cardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 104 8 0.300 moderate 4 2007 2011
CUI: C0023890
Disease: Liver Cirrhosis
Liver Cirrhosis
disease Digestive System Diseases Disease or Syndrome 682 71 0.300 2 2014 2014
CUI: C0023893
Disease: Liver Cirrhosis, Experimental
Liver Cirrhosis, Experimental
disease Digestive System Diseases Experimental Model of Disease 800 0.300 2 2016 2016
CUI: C0239946
Disease: Fibrosis, Liver
Fibrosis, Liver
disease Digestive System Diseases Disease or Syndrome 544 31 0.300 2 2014 2014
CUI: C0017668
Disease: Focal glomerulosclerosis
Focal glomerulosclerosis
disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 154 17 0.300 1 2010 2010
CUI: C0022658
Disease: Kidney Diseases
Kidney Diseases
group Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 638 93 0.300 1 2010 2010
CUI: C0022116
Disease: Ischemia
Ischemia
phenotype Pathological Conditions, Signs and Symptoms Pathologic Function 103 0.300 1 2009 2009
CUI: C0269102
Disease: Endometrioma
Endometrioma
disease Female Urogenital Diseases and Pregnancy Complications Neoplastic Process 228 2 0.300 1 2011 2011
CUI: C0023895
Disease: Liver diseases
Liver diseases
group Digestive System Diseases Disease or Syndrome 605 26 0.300 1 2002 2002
CUI: C1619692
Disease: Nephrogenic Fibrosing Dermopathy
Nephrogenic Fibrosing Dermopathy
disease Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Disease or Syndrome 8 0.300 1 2010 2010
CUI: C0520463
Disease: Chronic active hepatitis
Chronic active hepatitis
disease Digestive System Diseases Disease or Syndrome 86 16 0.300 1 2013 2013
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 4962 1839 0.300 1 2 2015 2015
CUI: C0149519
Disease: Chronic Persistent Hepatitis
Chronic Persistent Hepatitis
disease Digestive System Diseases Disease or Syndrome 31 0.300 1 2013 2013
CUI: C0086565
Disease: Liver Dysfunction
Liver Dysfunction
phenotype Digestive System Diseases Finding 206 0.300 1 2002 2002