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: C0751394
Disease: Cancer of Nose
Cancer of Nose 		disease Neoplasms; Musculoskeletal Diseases; Respiratory Tract Diseases; Otorhinolaryngologic Diseases Neoplastic Process 3 0.010 None 1.000 1 2019 2019
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: C0519030
Disease: Pneumonia due to Klebsiella pneumoniae
Pneumonia due to Klebsiella pneumoniae 		disease Infections; Respiratory Tract Diseases Disease or Syndrome 16 0.010 None 1.000 1 2018 2018
CUI: C0221238
Disease: Mesangial proliferative glomerulonephritis
Mesangial proliferative glomerulonephritis 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 37 0.200 None 1.000 1 2006 2006
CUI: C0221106
Disease: Alkalemia
Alkalemia 		disease Disease or Syndrome 38 0.040 None 1.000 4 2018 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: 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
CUI: C0338078
Disease: Non-Functioning Pituitary Gland Neoplasm
Non-Functioning Pituitary Gland Neoplasm 		disease Neoplasms; Nervous System Diseases; Endocrine System Diseases Neoplastic Process 56 2 0.010 None 1.000 1 2002 2002
CUI: C1333762
Disease: Gastric Cardia Adenocarcinoma
Gastric Cardia Adenocarcinoma 		disease Neoplastic Process 65 11 0.010 None 1.000 1 2013 2013
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: 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: C0346627
Disease: Intestinal Cancer
Intestinal Cancer 		disease Digestive System Diseases; Neoplasms Neoplastic Process 89 0.010 None 1.000 1 2017 2017
CUI: C1368898
Disease: Adult Teratoma
Adult Teratoma 		disease Neoplasms Neoplastic Process 93 3 0.010 None 1.000 1 2013 2013
CUI: C2347762
Disease: Childhood Teratoma
Childhood Teratoma 		disease Neoplasms Neoplastic Process 95 3 0.010 None 1.000 1 2013 2013
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: C2930619
Disease: Sex Differentiation Disorders
Sex Differentiation Disorders 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome 103 10 0.010 None 1.000 1 2013 2013
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: C0032019
Disease: Pituitary Neoplasms
Pituitary Neoplasms 		group Neoplasms; Nervous System Diseases; Endocrine System Diseases Neoplastic Process 131 1 0.010 None 1.000 1 2002 2002
CUI: C0260037
Disease: Multiple tumors
Multiple tumors 		phenotype Neoplasms Neoplastic Process 143 12 0.010 None 1.000 1 2005 2005
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: 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: C0751295
Disease: Memory Loss
Memory Loss 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms Sign or Symptom 163 10 0.010 None 1.000 1 2020 2020
CUI: C0039538
Disease: Teratoma
Teratoma 		disease Neoplasms Neoplastic Process 171 8 0.010 None 1.000 1 2013 2013
CUI: C0002622
Disease: Amnesia
Amnesia 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 173 12 0.010 None 1.000 1 2020 2020
CUI: C0017185
Disease: Gastrointestinal Neoplasms
Gastrointestinal Neoplasms 		group Digestive System Diseases; Neoplasms Neoplastic Process 182 3 0.010 None 1.000 1 2017 2017