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: C2674574
Disease: Aortic aneurysm, familial thoracic 3
Aortic aneurysm, familial thoracic 3 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Cardiovascular Diseases Disease or Syndrome 1 26 0.700 None 1.000 16 26 2003 2017
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		disease Disease or Syndrome 59 442 0.600 definitive 1.000 43 20 2003 2019
CUI: C2697932
Disease: Loeys-Dietz Syndrome
Loeys-Dietz Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Cardiovascular Diseases Disease or Syndrome 20 35 1.000 strong 1.000 55 19 2003 2019
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases Disease or Syndrome 130 1012 0.500 None 1.000 34 4 1994 2019
CUI: C1860896
Disease: COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 6
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 4 0.600 None 1.000 1 4 1998 1998
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 6776 2793 0.200 None 0.920 25 3 1994 2019
CUI: C0002940
Disease: Aneurysm
Aneurysm 		disease Cardiovascular Diseases Pathologic Function 22 36 0.100 None 0 3
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		disease Digestive System Diseases; Neoplasms Neoplastic Process 5473 1962 0.400 None 1.000 38 2 1995 2020
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 6941 3417 0.200 None 0.905 21 2 1994 2019
CUI: C0162871
Disease: Aortic Aneurysm, Abdominal
Aortic Aneurysm, Abdominal 		disease Cardiovascular Diseases Disease or Syndrome 586 90 0.160 None 1.000 6 2 2009 2015
CUI: C2981150
Disease: Uranostaphyloschisis
Uranostaphyloschisis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Respiratory Tract Diseases; Stomatognathic Diseases; Otorhinolaryngologic Diseases Congenital Abnormality 190 75 0.110 None 1.000 2 2 2003 2017
CUI: C0023343
Disease: Leprosy
Leprosy 		disease Infections Disease or Syndrome 190 120 0.020 None 1.000 2 2 2011 2014
CUI: C0428474
Disease: Serum LDL cholesterol measurement
Serum LDL cholesterol measurement 		phenotype Laboratory Procedure 269 555 0.100 None 1.000 1 2 2012 2012
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		phenotype Laboratory Procedure 483 1142 0.100 None 1.000 1 2 2012 2012
CUI: C0948008
Disease: Ischemic stroke
Ischemic stroke 		disease Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 1159 704 0.110 None 1.000 1 2 2011 2011
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		group Neoplasms Neoplastic Process 8621 1641 0.100 None 1.000 25 1 1995 2019
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		group Neoplasms Neoplastic Process 8221 1374 0.100 None 1.000 19 1 1995 2019
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 967 579 0.100 None 1.000 6 1 2005 2016
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		disease Congenital Abnormality 439 617 0.100 None 1.000 6 1 2005 2016
CUI: C0009782
Disease: Connective Tissue Diseases
Connective Tissue Diseases 		group Skin and Connective Tissue Diseases Disease or Syndrome 188 24 0.150 None 1.000 5 1 2004 2018
CUI: C4551955
Disease: Loeys-Dietz Syndrome, Type 1a
Loeys-Dietz Syndrome, Type 1a 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Cardiovascular Diseases Disease or Syndrome 5 10 0.400 None 1.000 5 1 2004 2012
CUI: C2931058
Disease: Marfan Syndrome type 2
Marfan Syndrome type 2 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases Disease or Syndrome 2 1 0.350 None 1.000 5 1 1996 2011
CUI: C0149630
Disease: Bicuspid aortic valve
Bicuspid aortic valve 		disease Cardiovascular Diseases Congenital Abnormality 154 23 0.140 None 1.000 4 1 2008 2016
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		group Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 2780 385 0.340 None 1.000 4 1 2001 2008
CUI: C0345050
Disease: Congenital aneurysm of ascending aorta
Congenital aneurysm of ascending aorta 		disease Cardiovascular Diseases Congenital Abnormality 16 19 0.030 None 1.000 3 1 2005 2011