Source: BEFREE ×
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: C0019163
Disease: Hepatitis B
Hepatitis B 		disease Digestive System Diseases; Infections Disease or Syndrome 1382 269 0.010 None 1.000 1 2018 2018
CUI: C0019562
Disease: Von Hippel-Lindau Syndrome
Von Hippel-Lindau Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 170 29 0.010 None 1.000 1 1996 1996
CUI: C0023786
Disease: Mucopolysaccharidosis I
Mucopolysaccharidosis I 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 14 7 0.010 None 1.000 1 2013 2013
CUI: C0023890
Disease: Liver Cirrhosis
Liver Cirrhosis 		disease Pathological Conditions, Signs and Symptoms; Digestive System Diseases Disease or Syndrome 1099 171 0.010 None 1.000 1 2010 2010
CUI: C0024776
Disease: Maple Syrup Urine Disease
Maple Syrup Urine Disease 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 24 9 0.010 None 1.000 1 2017 2017
CUI: C0031485
Disease: Phenylketonurias
Phenylketonurias 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 81 46 0.010 None 1.000 1 2017 2017
CUI: C0032320
Disease: Pneumoperitoneum
Pneumoperitoneum 		disease Digestive System Diseases Disease or Syndrome 26 0.010 None 1.000 1 2015 2015
CUI: C0033860
Disease: Psoriasis
Psoriasis 		disease Skin and Connective Tissue Diseases Disease or Syndrome 1105 238 0.010 None 1.000 1 2007 2007
CUI: C0034543
Disease: Radicular Cyst
Radicular Cyst 		disease Neoplasms; Musculoskeletal Diseases; Stomatognathic Diseases Disease or Syndrome 62 0.010 None 1.000 1 2001 2001
CUI: C0038454
Disease: Cerebrovascular accident
Cerebrovascular accident 		group Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 1515 412 0.010 None 1.000 1 2018 2018
CUI: C0040997
Disease: Trigeminal Neuralgia
Trigeminal Neuralgia 		disease Nervous System Diseases; Stomatognathic Diseases Disease or Syndrome 91 1 0.010 None 1.000 1 1999 1999
CUI: C0041327
Disease: Tuberculosis, Pulmonary
Tuberculosis, Pulmonary 		disease Infections; Respiratory Tract Diseases Disease or Syndrome 352 171 0.010 None 1.000 1 2014 2014
CUI: C0079588
Disease: Ichthyosis, X-Linked
Ichthyosis, X-Linked 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 199 5 0.010 None 1.000 1 2019 2019
CUI: C0085110
Disease: Severe Combined Immunodeficiency
Severe Combined Immunodeficiency 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases Disease or Syndrome 268 20 0.010 None 1.000 1 1999 1999
CUI: C0086795
Disease: Pfaundler-Hurler Syndrome
Pfaundler-Hurler Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 17 11 0.010 None 1.000 1 2013 2013
CUI: C0149678
Disease: Epstein-Barr Virus Infections
Epstein-Barr Virus Infections 		group Infections Disease or Syndrome 356 3 0.010 None 1.000 1 2006 2006
CUI: C0175697
Disease: Van der Woude syndrome
Van der Woude syndrome 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases; Stomatognathic Diseases Disease or Syndrome 113 9 0.010 None 1.000 1 1 2017 2017
CUI: C0220754
Disease: Biotinidase Deficiency
Biotinidase Deficiency 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 6 4 0.010 None 1.000 1 2009 2009
CUI: C0221228
Disease: Comedone
Comedone 		disease Skin and Connective Tissue Diseases Disease or Syndrome 49 0.010 None 1.000 1 1994 1994
CUI: C0241880
Disease: Endometriosis of pelvis
Endometriosis of pelvis 		disease Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome 20 0.010 None 1.000 1 1998 1998
CUI: C0268483
Disease: Tyrosinemias
Tyrosinemias 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 16 3 0.010 None 1.000 1 2017 2017
CUI: C0342783
Disease: Deficiency of butyryl-CoA dehydrogenase
Deficiency of butyryl-CoA dehydrogenase 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 21 6 0.010 None 1.000 1 2014 2014
CUI: C0398686
Disease: Primary immune deficiency disorder
Primary immune deficiency disorder 		group Immune System Diseases Disease or Syndrome 92 0.010 None 1.000 1 2019 2019
CUI: C0747845
Disease: early pregnancy
early pregnancy 		phenotype Disease or Syndrome 273 8 0.010 None 1.000 1 2010 2010
CUI: C0751202
Disease: Cystathionine beta-Synthase Deficiency Disease
Cystathionine beta-Synthase Deficiency Disease 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Nervous System Diseases Disease or Syndrome 25 12 0.010 None 1.000 1 2010 2010