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: C0041296
Disease: Tuberculosis
Tuberculosis 		disease Infections Disease or Syndrome 1256 328 0.020 None 1.000 2 2018 2019
CUI: C0023895
Disease: Liver diseases
Liver diseases 		group Digestive System Diseases Disease or Syndrome 1019 100 0.020 None 1.000 2 2016 2017
CUI: C0220620
Disease: Gastrointestinal Carcinoid Tumor
Gastrointestinal Carcinoid Tumor 		disease Digestive System Diseases; Neoplasms; Endocrine System Diseases Neoplastic Process 323 13 0.020 None 1.000 2 2018 2019
CUI: C1704380
Disease: Distal Renal Tubular Acidosis
Distal Renal Tubular Acidosis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 23 18 0.010 None 1.000 1 2003 2003
CUI: C0079745
Disease: Lymphoma, Large-Cell, Follicular
Lymphoma, Large-Cell, Follicular 		disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 153 6 0.300 None 1.000 1 2016 2016
CUI: C0079758
Disease: Lymphoma, Mixed-Cell, Follicular
Lymphoma, Mixed-Cell, Follicular 		disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 15 0.300 None 1.000 1 2016 2016
CUI: C0079765
Disease: Lymphoma, Small Cleaved-Cell, Follicular
Lymphoma, Small Cleaved-Cell, Follicular 		disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 21 0.300 None 1.000 1 2016 2016
CUI: C1956131
Disease: Lymphoma, Follicular, Grade 3
Lymphoma, Follicular, Grade 3 		disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 16 0.300 None 1.000 1 2016 2016
CUI: C0085167
Disease: Granular cell tumor
Granular cell tumor 		disease Neoplasms Neoplastic Process 19 0.010 None 1.000 1 2018 2018
CUI: C1956130
Disease: Lymphoma, Follicular, Grade 1
Lymphoma, Follicular, Grade 1 		disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 22 0.300 None 1.000 1 2016 2016
CUI: C0282577
Disease: Congenital Disorders of Glycosylation
Congenital Disorders of Glycosylation 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 102 38 0.010 None 1.000 1 2017 2017
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		phenotype Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 6243 355 0.010 None 1.000 1 2018 2018
CUI: C1956132
Disease: Lymphoma, Follicular, Grade 2
Lymphoma, Follicular, Grade 2 		disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 15 0.300 None 1.000 1 2016 2016
CUI: C0023473
Disease: Myeloid Leukemia, Chronic
Myeloid Leukemia, Chronic 		disease Neoplasms; Hemic and Lymphatic Diseases Neoplastic Process 1172 115 0.010 None 1.000 1 2002 2002
CUI: C0027651
Disease: Neoplasms
Neoplasms 		group Neoplasms Neoplastic Process 10161 1644 0.010 None 1.000 1 2002 2002
CUI: C0024301
Disease: Lymphoma, Follicular
Lymphoma, Follicular 		disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 477 83 0.300 None 1.000 1 2016 2016
CUI: C1845977
Disease: X- linked recessive
X- linked recessive 		phenotype Finding 172 1 0.100 None 0
CUI: C1848701
Disease: Elevated hepatic transaminase
Elevated hepatic transaminase 		phenotype Finding 212 9 0.100 None 0
CUI: C1859236
Disease: Prolonged neonatal jaundice
Prolonged neonatal jaundice 		phenotype Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities Finding 59 14 0.100 None 0
CUI: C1861403
Disease: Variable expressivity
Variable expressivity 		phenotype Finding 319 0.100 None 0
CUI: C0038002
Disease: Splenomegaly
Splenomegaly 		phenotype Pathological Conditions, Signs and Symptoms Finding 345 19 0.100 None 0
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 783 111 0.100 None 0
CUI: C0015695
Disease: Fatty Liver
Fatty Liver 		disease Digestive System Diseases Disease or Syndrome 875 35 0.100 None 0
CUI: C1844383
Disease: Recurrent bacterial infection
Recurrent bacterial infection 		phenotype Infections Finding 69 0.100 None 0
CUI: C0019209
Disease: Hepatomegaly
Hepatomegaly 		phenotype Pathological Conditions, Signs and Symptoms; Digestive System Diseases Finding 523 30 0.100 None 0