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: C0333307
Disease: Superficial ulcer
Superficial ulcer 		disease Pathological Conditions, Signs and Symptoms Acquired Abnormality 242 10 0.010 None 1.000 1 2019 2019
CUI: C4321245
Disease: Cleft lip or lips
Cleft lip or lips 		phenotype Anatomical Abnormality 78 37 0.010 None 1.000 1 2019 2019
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 757 47 0.010 None 1.000 1 2006 2006
CUI: C0008924
Disease: Cleft upper lip
Cleft upper lip 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Congenital Abnormality 255 282 0.010 None 1.000 1 2019 2019
CUI: C0036875
Disease: Disorders of Sex Development
Disorders of Sex Development 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Congenital Abnormality 39 6 0.010 None 1.000 1 2013 2013
CUI: C0392005
Disease: Bilateral cleft lip
Bilateral cleft lip 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Congenital Abnormality 8 1 0.010 None 1.000 1 2019 2019
CUI: C0221106
Disease: Alkalemia
Alkalemia 		disease Disease or Syndrome 38 0.040 None 1.000 4 2018 2019
CUI: C0024115
Disease: Lung diseases
Lung diseases 		group Respiratory Tract Diseases Disease or Syndrome 700 50 0.030 None 1.000 3 2013 2018
CUI: C0002873
Disease: Anemia of chronic disease
Anemia of chronic disease 		phenotype Hemic and Lymphatic Diseases Disease or Syndrome 100 1 0.020 None 1.000 2 2018 2020
CUI: C0011603
Disease: Dermatitis
Dermatitis 		disease Skin and Connective Tissue Diseases Disease or Syndrome 496 16 0.020 None 1.000 2 2018 2020
CUI: C0022658
Disease: Kidney Diseases
Kidney Diseases 		group Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 1180 140 0.020 None 1.000 2 2008 2018
CUI: C0162820
Disease: Dermatitis, Allergic Contact
Dermatitis, Allergic Contact 		disease Skin and Connective Tissue Diseases; Immune System Diseases Disease or Syndrome 151 1 0.020 None 1.000 2 2018 2020
CUI: C1275685
Disease: Avellino corneal dystrophy
Avellino corneal dystrophy 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 115 14 0.020 None 1.000 2 2018 2020
CUI: C3266262
Disease: Multiple Chronic Conditions
Multiple Chronic Conditions 		disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 929 42 0.020 None 1.000 2 2017 2019
CUI: C4554601
Disease: Amyloidosis cutis dyschromia
Amyloidosis cutis dyschromia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 84 1 0.020 None 1.000 2 2018 2020
CUI: C0004096
Disease: Asthma
Asthma 		disease Respiratory Tract Diseases; Immune System Diseases Disease or Syndrome 2096 1536 0.010 None 1.000 1 2018 2018
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases 		group Cardiovascular Diseases Disease or Syndrome 1756 711 0.010 None 1.000 1 2019 2019
CUI: C0019348
Disease: Herpes Simplex Infections
Herpes Simplex Infections 		group Infections; Skin and Connective Tissue Diseases Disease or Syndrome 645 11 0.010 None 1.000 1 2019 2019
CUI: C0021364
Disease: Male infertility
Male infertility 		phenotype Male Urogenital Diseases Disease or Syndrome 516 146 0.010 None 1.000 1 2013 2013
CUI: C0022660
Disease: Kidney Failure, Acute
Kidney Failure, Acute 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 826 32 0.010 None 1.000 1 2018 2018
CUI: C0023051
Disease: Laryngeal Diseases
Laryngeal Diseases 		group Respiratory Tract Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 159 7 0.010 None 1.000 1 2019 2019
CUI: C0037274
Disease: Dermatologic disorders
Dermatologic disorders 		group Skin and Connective Tissue Diseases Disease or Syndrome 617 21 0.010 None 1.000 1 2018 2018
CUI: C0039483
Disease: Giant Cell Arteritis
Giant Cell Arteritis 		disease Skin and Connective Tissue Diseases; Immune System Diseases; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 260 78 0.010 None 1.000 1 2013 2013
CUI: C0041956
Disease: Ureteral obstruction
Ureteral obstruction 		phenotype Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 359 0.010 None 1.000 1 2008 2008
CUI: C0152451
Disease: Chronic glomerulonephritis
Chronic glomerulonephritis 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 41 7 0.010 None 1.000 1 2008 2008