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: C2697932
Disease: Loeys-Dietz Syndrome
Loeys-Dietz Syndrome
disease Cardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 13 27 0.900 1.000 44 14 2004 2017
Loeys-Dietz Aortic Aneurysm Syndrome
disease Cardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 5 6 0.730 1.000 9 2004 2014
CUI: C0152018
Disease: Esophageal carcinoma
Esophageal carcinoma
disease Neoplastic Process 684 223 0.610 1.000 1 1 2000 2000
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 0.600 definitive 0.933 40 1995 2018
CUI: C0162872
Disease: Aortic Aneurysm, Thoracic
Aortic Aneurysm, Thoracic
disease Cardiovascular Diseases Disease or Syndrome 98 66 0.600 strong 1.000 15 1 2003 2018
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 6
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nutritional and Metabolic Diseases Neoplastic Process 1 3 0.600 4 3 1995 2005
CUI: C0546837
Disease: Malignant neoplasm of esophagus
Malignant neoplasm of esophagus
disease Digestive System Diseases; Neoplasms Neoplastic Process 672 66 0.600 1 1 2000 2000
Hereditary Nonpolyposis Colorectal Cancer
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nutritional and Metabolic Diseases Neoplastic Process 127 1261 0.590 1.000 10 1995 2015
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate
disease Male Urogenital Diseases; Neoplasms Neoplastic Process 3238 563 0.580 1.000 8 1999 2015
CUI: C0033578
Disease: Prostatic Neoplasms
Prostatic Neoplasms
group Male Urogenital Diseases; Neoplasms Neoplastic Process 1553 25 0.530 1.000 4 2004 2008
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon
disease Digestive System Diseases; Neoplasms Neoplastic Process 2000 135 0.500 0.944 19 1995 2018
Aortic aneurysm, familial thoracic 3
disease Cardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 1 15 0.500 10 15 2004 2012
CUI: C0014859
Disease: Esophageal Neoplasms
Esophageal Neoplasms
group Digestive System Diseases; Neoplasms Neoplastic Process 636 60 0.500 1 2000 2000
CUI: C0003486
Disease: Aortic Aneurysm
Aortic Aneurysm
disease Cardiovascular Diseases Disease or Syndrome 95 9 0.430 1.000 4 2005 2011
CUI: C0340643
Disease: Dissection of aorta
Dissection of aorta
disease Cardiovascular Diseases Pathologic Function 42 12 0.420 1.000 4 2006 2011
CUI: C0149931
Disease: Migraine Disorders
Migraine Disorders
group Nervous System Diseases Disease or Syndrome 289 198 0.420 < 0.001 3 2006 2014
CUI: C0002949
Disease: Aneurysm, Dissecting
Aneurysm, Dissecting
disease Cardiovascular Diseases Disease or Syndrome 18 2 0.410 1.000 3 2006 2012
CUI: C1527249
Disease: Colorectal Cancer
Colorectal Cancer
disease Digestive System Diseases; Neoplasms Neoplastic Process 3298 955 0.400 0.962 26 1995 2017
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis
phenotype Neoplasms; Pathological Conditions, Signs and Symptoms Neoplastic Process 3919 129 0.400 1.000 17 2001 2015
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma
disease Neoplastic Process 2090 240 0.400 1.000 13 1995 2018
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 213 37 0.400 strong 1 2005 2005
CUI: C0015672
Disease: Fatigue
Fatigue
phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 329 33 0.400 1 2006 2006
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung
disease Neoplasms; Respiratory Tract Diseases Neoplastic Process 2448 409 0.380 1.000 9 1997 2016
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
group Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 2386 303 0.360 1.000 7 1 2001 2010
CUI: C2931058
Disease: Marfan Syndrome type 2
Marfan Syndrome type 2
disease Cardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 2 1 0.350 1.000 5 1 1997 2011