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: C4551512
Disease: DEHYDRATED HEREDITARY STOMATOCYTOSIS 1 WITH OR WITHOUT PSEUDOHYPERKALEMIA AND/OR PERINATAL EDEMA
DEHYDRATED HEREDITARY STOMATOCYTOSIS 1 WITH OR WITHOUT PSEUDOHYPERKALEMIA AND/OR PERINATAL EDEMA 		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 12 0.600 strong 1.000 7 12 2012 2015
CUI: C4225184
Disease: LYMPHATIC MALFORMATION 6
LYMPHATIC MALFORMATION 6 		disease Disease or Syndrome 1 5 0.700 strong 1.000 4 5 2012 2019
CUI: C0151604
Disease: Genital Edema
Genital Edema 		phenotype Pathological Conditions, Signs and Symptoms Pathologic Function 1 0.100 None 0
CUI: C1863769
Disease: Dehydrated Hereditary Stomatocytosis, Pseudohyperkalemia, and Perinatal Edema
Dehydrated Hereditary Stomatocytosis, Pseudohyperkalemia, and Perinatal Edema 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 1 0.300 None 0
CUI: C3806125
Disease: Increased red cell hemolysis by shear stress
Increased red cell hemolysis by shear stress 		phenotype Hemic and Lymphatic Diseases Finding 1 0.100 None 0
CUI: C4552908
Disease: Genital Edema, CTCAE
Genital Edema, CTCAE 		phenotype Finding 1 0.100 None 0
CUI: C4025182
Disease: Exercise-induced hemolysis
Exercise-induced hemolysis 		disease Hemic and Lymphatic Diseases Disease or Syndrome 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 0.030 None 1.000 3 2015 2019
CUI: C0221763
Disease: Chronic cystitis
Chronic cystitis 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 6 0.010 None 1.000 1 2018 2018
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: C1850534
Disease: Edema, generalized
Edema, generalized 		phenotype Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Cardiovascular Diseases Pathologic Function 12 0.100 None 0
CUI: C4554651
Disease: Generalized Edema, CTCAE
Generalized Edema, CTCAE 		phenotype Finding 12 0.100 None 0
CUI: C0677598
Disease: Stomatocytosis Result
Stomatocytosis Result 		phenotype Laboratory or Test Result 13 0.300 strong 1.000 2 2012 2014
CUI: C4531297
Disease: Increased mean corpuscular hemoglobin concentration
Increased mean corpuscular hemoglobin concentration 		phenotype Finding 13 0.100 None 0
CUI: C1333116
Disease: Colorectal Traditional Serrated Adenoma
Colorectal Traditional Serrated Adenoma 		disease Neoplastic Process 14 0.010 None 1.000 1 2019 2019
CUI: C0272048
Disease: stomatocytic anemia
stomatocytic anemia 		disease Hemic and Lymphatic Diseases Disease or Syndrome 15 1 0.310 strong 1.000 3 1 2012 2017
CUI: C0272051
Disease: Xerocytosis
Xerocytosis 		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 20 3 0.600 strong 1.000 23 2 2012 2020
CUI: C1861455
Disease: STOMATOCYTOSIS I
STOMATOCYTOSIS I 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 20 3 0.010 None 1.000 1 2019 2019
CUI: C1720771
Disease: Testicular Hydrocele
Testicular Hydrocele 		disease Male Urogenital Diseases Congenital Abnormality 21 5 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: C4553313
Disease: Periorbital Edema, CTCAE
Periorbital Edema, CTCAE 		phenotype Finding 22 0.100 None 0
CUI: C0023521
Disease: Globoid cell leukodystrophy
Globoid cell leukodystrophy 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 35 111 0.020 None 1.000 2 2015 2018
CUI: C0206160
Disease: Reticulocytosis
Reticulocytosis 		phenotype Pathological Conditions, Signs and Symptoms Finding 40 1 0.100 None 0
CUI: C0151603
Disease: Anasarca
Anasarca 		phenotype Pathological Conditions, Signs and Symptoms Pathologic Function 41 0.100 None 0
CUI: C1845447
Disease: Cupped ears (finding)
Cupped ears (finding) 		phenotype Congenital Abnormality 45 7 0.100 None 0