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: C0455990
Disease: Immune Hydrops Fetalis
Immune Hydrops Fetalis 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 1 0.300 None 1.000 1 2010 2010
CUI: C1856129
Disease: Thyroid lymphangiectasia
Thyroid lymphangiectasia 		phenotype Hemic and Lymphatic Diseases Finding 1 0.100 None 0
CUI: C1856139
Disease: Pleural lymphangiectasia
Pleural lymphangiectasia 		phenotype Hemic and Lymphatic Diseases Finding 1 0.100 None 0
CUI: C1856140
Disease: Pericardial lymphangiectasia
Pericardial lymphangiectasia 		phenotype Hemic and Lymphatic Diseases Finding 2 0.100 None 0
CUI: C4012050
Disease: HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 1
HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 1 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 3 6 0.700 strong 1.000 4 6 2003 2014
CUI: C1855480
Disease: Pulmonary lymphangiectasia
Pulmonary lymphangiectasia 		phenotype Hemic and Lymphatic Diseases Finding 4 0.100 None 0
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 0.610 strong 1.000 3 2009 2017
CUI: C0024215
Disease: Lymphangiectasis, Intestinal
Lymphangiectasis, Intestinal 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 6 1 0.100 None 0
CUI: C1835580
Disease: Mild postnatal growth retardation
Mild postnatal growth retardation 		phenotype Finding 6 0.100 None 0
CUI: C0024228
Disease: Lymphatic Diseases
Lymphatic Diseases 		group Hemic and Lymphatic Diseases Disease or Syndrome 8 0.010 None 1.000 1 2016 2016
CUI: C0282631
Disease: Facies
Facies 		group Pathological Conditions, Signs and Symptoms Organism Attribute 10 0.300 None 1.000 1 2009 2009
CUI: C1856136
Disease: Conical incisor
Conical incisor 		phenotype Finding 10 0.100 None 0
CUI: C0268314
Disease: Cholestasis-edema syndrome, Norwegian type
Cholestasis-edema syndrome, Norwegian type 		disease Digestive System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 14 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: C1856266
Disease: Coronal craniosynostosis
Coronal craniosynostosis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 20 3 0.100 None 0
CUI: C4021254
Disease: Cutaneous finger syndactyly
Cutaneous finger syndactyly 		disease Congenital Abnormality 20 1 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: C0024221
Disease: Lymphangioma
Lymphangioma 		disease Neoplasms Neoplastic Process 22 1 0.100 None 0
CUI: C0151205
Disease: Periorbital edema
Periorbital edema 		phenotype Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases; Immune System Diseases; Cardiovascular Diseases Pathologic Function 22 0.100 None 0
CUI: C1865027
Disease: Hypoplastic iliac wing
Hypoplastic iliac wing 		disease Anatomical Abnormality 22 0.100 None 0
CUI: C4553313
Disease: Periorbital Edema, CTCAE
Periorbital Edema, CTCAE 		phenotype Finding 22 0.100 None 0
CUI: C0008733
Disease: Chylothorax
Chylothorax 		disease Respiratory Tract Diseases Disease or Syndrome 23 2 0.100 None 0
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: C1858574
Disease: Sparse axillary hair
Sparse axillary hair 		phenotype Finding 39 0.100 None 0