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: C4748408
Disease: HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 3
HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 3 		disease Disease or Syndrome 1 3 0.610 strong 1.000 2 3 2017 2018
CUI: C1855480
Disease: Pulmonary lymphangiectasia
Pulmonary lymphangiectasia 		phenotype Hemic and Lymphatic Diseases Finding 4 0.100 None 0
CUI: C2700425
Disease: EHLERS-DANLOS SYNDROME, DERMATOSPARAXIS TYPE
EHLERS-DANLOS SYNDROME, DERMATOSPARAXIS TYPE 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases Disease or Syndrome 5 6 0.010 None 1.000 1 2001 2001
CUI: C0340834
Disease: Hennekam lymphangiectasia-lymphedema syndrome
Hennekam lymphangiectasia-lymphedema syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 6 0.310 None 1.000 2 2017 2018
CUI: C1835580
Disease: Mild postnatal growth retardation
Mild postnatal growth retardation 		phenotype Finding 6 0.100 None 0
CUI: C0542571
Disease: Facial edema
Facial edema 		disease Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases; Male Urogenital Diseases; Immune System Diseases; Cardiovascular Diseases Pathologic Function 9 1 0.100 None 0
CUI: C0523979
Disease: Vitamin D3 measurement
Vitamin D3 measurement 		phenotype Laboratory Procedure 14 51 0.100 None 1.000 1 1 2017 2017
CUI: C0919758
Disease: Vitamin D measurement
Vitamin D measurement 		phenotype Laboratory Procedure 14 51 0.100 None 1.000 1 1 2017 2017
CUI: C1812607
Disease: Aortic aneurysm and dissection
Aortic aneurysm and dissection 		disease Disease or Syndrome 14 1 0.010 None 1.000 1 2017 2017
CUI: C0014733
Disease: Erysipelas
Erysipelas 		disease Infections; Skin and Connective Tissue Diseases Disease or Syndrome 17 2 0.100 None 0
CUI: C0033680
Disease: Protein-Losing Enteropathies
Protein-Losing Enteropathies 		group Digestive System Diseases Disease or Syndrome 17 2 0.100 None 0
CUI: C0347509
Disease: Benign neoplasm of central nervous system
Benign neoplasm of central nervous system 		group Neoplasms; Nervous System Diseases Neoplastic Process 21 0.100 None 0
CUI: C1720771
Disease: Testicular Hydrocele
Testicular Hydrocele 		disease Male Urogenital Diseases Congenital Abnormality 21 5 0.100 None 0
CUI: C0003496
Disease: Aortic Rupture
Aortic Rupture 		disease Cardiovascular Diseases; Wounds and Injuries Disease or Syndrome 22 0.010 None 1.000 1 2017 2017
CUI: C0024221
Disease: Lymphangioma
Lymphangioma 		disease Neoplasms Neoplastic Process 22 1 0.100 None 0
CUI: C0008733
Disease: Chylothorax
Chylothorax 		disease Respiratory Tract Diseases Disease or Syndrome 23 2 0.100 None 0
CUI: C0523744
Disease: Lipids measurement
Lipids measurement 		group Laboratory Procedure 27 53 0.100 None 1.000 1 1 2012 2012
CUI: C0242362
Disease: Disk, Herniated
Disk, Herniated 		disease Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases Acquired Abnormality 31 0.010 None 1.000 1 2006 2006
CUI: C0040457
Disease: Tooth, Supernumerary
Tooth, Supernumerary 		phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Finding 31 2 0.100 None 0
CUI: C0021818
Disease: Intervertebral Disk Displacement
Intervertebral Disk Displacement 		disease Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases Disease or Syndrome 35 0.010 None 1.000 1 2006 2006
CUI: C1858574
Disease: Sparse axillary hair
Sparse axillary hair 		phenotype Finding 39 0.100 None 0
CUI: C0391826
Disease: Lhermitte-Duclos disease
Lhermitte-Duclos disease 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms Neoplastic Process 41 83 0.010 None 1.000 1 2016 2016
CUI: C0238207
Disease: Ectopic kidney
Ectopic kidney 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 41 3 0.100 None 0
CUI: C0221775
Disease: Lumbar disc disease
Lumbar disc disease 		disease Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases Disease or Syndrome 49 30 0.010 None 1.000 1 2016 2016
CUI: C0263874
Disease: Degeneration of lumbar intervertebral disc
Degeneration of lumbar intervertebral disc 		disease Musculoskeletal Diseases Disease or Syndrome 50 6 0.010 None 1.000 1 2016 2016