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: C0349071
Disease: Chronic anal fissure
Chronic anal fissure 		phenotype Digestive System Diseases Acquired Abnormality 1 0.010 None 1.000 1 2019 2019
CUI: C1868731
Disease: Anal sphincter hypertonia
Anal sphincter hypertonia 		disease Disease or Syndrome 1 0.010 None 1.000 1 2019 2019
CUI: C4747366
Disease: Hypercholanemia
Hypercholanemia 		phenotype Finding 1 0.300 limited 0
CUI: C0392331
Disease: Arachnophobia
Arachnophobia 		disease Mental Disorders Mental or Behavioral Dysfunction 3 0.020 None 1.000 2 2018 2019
CUI: C1843139
Disease: Hypercholanemia, Familial
Hypercholanemia, Familial 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 3 3 0.710 None 1.000 2 1 2003 2013
CUI: C0346013
Disease: Fibroepithelioma of Pinkus
Fibroepithelioma of Pinkus 		disease Neoplasms Neoplastic Process 5 0.010 None 1.000 1 2005 2005
CUI: C4023004
Disease: Increased serum bile acid concentration
Increased serum bile acid concentration 		phenotype Finding 5 0.100 None 0
CUI: C1262113
Disease: Lipohypertrophy
Lipohypertrophy 		disease Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 8 0.010 None 1.000 1 2017 2017
CUI: C4020778
Disease: maternal hyperglycemia
maternal hyperglycemia 		disease Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Disease or Syndrome 8 0.010 None 1.000 1 2016 2016
CUI: C0205822
Disease: Hibernoma
Hibernoma 		disease Neoplasms Neoplastic Process 10 0.010 None 1.000 1 2017 2017
CUI: C1264041
Disease: von Willebrand Disease, Type 3
von Willebrand Disease, Type 3 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 11 17 0.010 None 1.000 1 2015 2015
CUI: C0085624
Disease: Burning sensation
Burning sensation 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 30 0.020 None 1.000 2 2019 2020
CUI: C0267187
Disease: Intestinal metaplasia of gastric mucosa
Intestinal metaplasia of gastric mucosa 		disease Digestive System Diseases; Neoplasms Neoplastic Process 35 1 0.010 None 1.000 1 2001 2001
CUI: C0555971
Disease: Oral infection
Oral infection 		group Infections; Respiratory Tract Diseases; Stomatognathic Diseases Disease or Syndrome 35 0.010 None 1.000 1 2011 2011
CUI: C4524257
Disease: MSI-low
MSI-low 		disease Neoplastic Process 37 2 0.020 None 1.000 2 2012 2019
CUI: C0038238
Disease: Steatorrhea
Steatorrhea 		phenotype Digestive System Diseases; Nutritional and Metabolic Diseases Finding 37 0.100 None 0
CUI: C1264039
Disease: von Willebrand Disease, Type 1
von Willebrand Disease, Type 1 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 39 26 0.010 None 1.000 1 2018 2018
CUI: C2363142
Disease: T-Cell Prolymphocytic Leukemia
T-Cell Prolymphocytic Leukemia 		disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 52 4 0.010 None 1.000 1 1999 1999
CUI: C2931788
Disease: Atypical Hemolytic Uremic Syndrome
Atypical Hemolytic Uremic Syndrome 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 56 42 0.100 None 0 2
CUI: C0035579
Disease: Rickets
Rickets 		disease Nutritional and Metabolic Diseases; Musculoskeletal Diseases Disease or Syndrome 72 16 0.100 None 0
CUI: C0265325
Disease: Turcot syndrome (disorder)
Turcot syndrome (disorder) 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nervous System Diseases Disease or Syndrome 77 75 0.010 None < 0.001 1 2008 2008
CUI: C4523846
Disease: MSI-high
MSI-high 		disease Neoplastic Process 83 9 0.010 None 1.000 1 2006 2006
CUI: C0279565
Disease: Invasive Lobular Breast Carcinoma
Invasive Lobular Breast Carcinoma 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 88 0.010 None 1.000 1 2018 2018
CUI: C0029434
Disease: Osteogenesis Imperfecta
Osteogenesis Imperfecta 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases Disease or Syndrome; Congenital Abnormality 90 91 0.010 None 1.000 1 2019 2019
CUI: C0729353
Disease: Subfertility
Subfertility 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 91 3 0.010 None 1.000 1 2019 2019