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: C0155568
Disease: Rheumatic aortic regurgitation
Rheumatic aortic regurgitation 		disease Infections; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases Disease or Syndrome 1 0.200 None 1.000 1 2009 2009
CUI: C0279983
Disease: Malignant Childhood Hemangiopericytoma
Malignant Childhood Hemangiopericytoma 		disease Neoplasms Neoplastic Process 1 0.010 None 1.000 1 2001 2001
CUI: C0334542
Disease: Hemangiopericytoma, Malignant
Hemangiopericytoma, Malignant 		disease Neoplasms Neoplastic Process 1 0.010 None 1.000 1 2001 2001
CUI: C1274865
Disease: Scleroderma-like secondary cutaneous sclerosis
Scleroderma-like secondary cutaneous sclerosis 		disease Disease or Syndrome 1 0.010 None 1.000 1 2000 2000
CUI: C1737267
Disease: Acute pulmonary congestion
Acute pulmonary congestion 		disease Disease or Syndrome 1 0.010 None 1.000 1 2007 2007
CUI: C0264774
Disease: Mitral and aortic incompetence
Mitral and aortic incompetence 		disease Cardiovascular Diseases Disease or Syndrome 3 0.200 None 1.000 1 2009 2009
CUI: C1839942
Disease: Retinal fibrosis
Retinal fibrosis 		disease Acquired Abnormality 4 0.010 None < 0.001 1 2019 2019
CUI: C2717860
Disease: Encapsulating Peritoneal Sclerosis
Encapsulating Peritoneal Sclerosis 		disease Pathological Conditions, Signs and Symptoms; Digestive System Diseases Disease or Syndrome 5 0.010 None 1.000 1 2014 2014
CUI: C0159060
Disease: Abnormal bowel sounds
Abnormal bowel sounds 		phenotype Finding 5 0.100 None 0
CUI: C4021910
Disease: Narrow foramen obturatorium
Narrow foramen obturatorium 		disease Anatomical Abnormality 6 0.100 None 0
CUI: C0340278
Disease: Atrial hypertrophy
Atrial hypertrophy 		disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 7 0.010 None 1.000 1 2017 2017
CUI: C0392400
Disease: Diffuse malignant mesothelioma
Diffuse malignant mesothelioma 		disease Neoplasms; Respiratory Tract Diseases Neoplastic Process 7 0.010 None 1.000 1 1998 1998
CUI: C0857516
Disease: Floppy
Floppy 		phenotype Sign or Symptom 7 0.010 None 1.000 1 2016 2016
CUI: C1282209
Disease: Choroidal neovascular membrane (disorder)
Choroidal neovascular membrane (disorder) 		disease Disease or Syndrome 7 1 0.010 None < 0.001 1 2019 2019
CUI: C3159311
Disease: BORNHOLM EYE DISEASE
BORNHOLM EYE DISEASE 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 7 1 0.010 None 1.000 1 2010 2010
CUI: C0154307
Disease: Banti's syndrome
Banti's syndrome 		disease Pathological Conditions, Signs and Symptoms; Digestive System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 8 0.010 None 1.000 1 2007 2007
CUI: C0268732
Disease: Nephritic syndrome
Nephritic syndrome 		disease Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 8 0.010 None 1.000 1 2006 2006
CUI: C1960048
Disease: Severe persistent asthma
Severe persistent asthma 		disease Respiratory Tract Diseases; Immune System Diseases Disease or Syndrome 8 0.010 None 1.000 1 2003 2003
CUI: C0343149
Disease: Contracture of joint of foot
Contracture of joint of foot 		disease Skin and Connective Tissue Diseases; Musculoskeletal Diseases Anatomical Abnormality 9 0.100 None 0
CUI: C0268009
Disease: Hyperosmolality
Hyperosmolality 		disease Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Nervous System Diseases Disease or Syndrome 10 0.010 None 1.000 1 1999 1999
CUI: C1112768
Disease: Anterior subcapsular cataract
Anterior subcapsular cataract 		disease Disease or Syndrome 10 0.010 None 1.000 1 2000 2000
CUI: C3839184
Disease: Low grade serous carcinoma
Low grade serous carcinoma 		disease Neoplastic Process 11 3 0.010 None 1.000 1 2017 2017
CUI: C0221259
Disease: Trichiasis
Trichiasis 		disease Eye Diseases Disease or Syndrome 12 1 0.010 None 1.000 1 2016 2016
CUI: C2721670
Disease: Ultrafiltration failure
Ultrafiltration failure 		disease Digestive System Diseases Disease or Syndrome 12 0.010 None 1.000 1 2010 2010
CUI: C0033054
Disease: Prenatal Exposure Delayed Effects
Prenatal Exposure Delayed Effects 		disease Female Urogenital Diseases and Pregnancy Complications Injury or Poisoning 13 0.300 None 1.000 1 2011 2011