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: C1862871
Disease: ANHIDROSIS, ISOLATED, WITH NORMAL SWEAT GLANDS
ANHIDROSIS, ISOLATED, WITH NORMAL SWEAT GLANDS 		disease Skin and Connective Tissue Diseases Disease or Syndrome 1 1 0.900 None 1.000 1 1 2014 2014
CUI: C1383860
Disease: Cardiac Hypertrophy
Cardiac Hypertrophy 		phenotype Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Pathologic Function 88 11 0.300 None 1.000 1 2010 2010
CUI: C1527348
Disease: Brain Hypoxia
Brain Hypoxia 		phenotype Nervous System Diseases Pathologic Function 12 0.300 None 1.000 1 2007 2007
CUI: C1140716
Disease: Hypoxic Brain Damage
Hypoxic Brain Damage 		phenotype Nervous System Diseases Pathologic Function 2 0.300 None 1.000 1 2007 2007
CUI: C0003132
Disease: Anoxic Encephalopathy
Anoxic Encephalopathy 		phenotype Nervous System Diseases Pathologic Function 2 0.300 None 1.000 1 2007 2007
CUI: C0995195
Disease: Anoxia of brain
Anoxia of brain 		phenotype Nervous System Diseases Pathologic Function 2 0.300 None 1.000 1 2007 2007
CUI: C0018800
Disease: Cardiomegaly
Cardiomegaly 		phenotype Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Finding 267 11 0.300 None 1.000 1 2010 2010
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 2084 288 0.140 None 1.000 6 2 2012 2019
CUI: C2745963
Disease: Kashin-Beck Disease
Kashin-Beck Disease 		disease Musculoskeletal Diseases Disease or Syndrome 77 43 0.120 None 1.000 2 10 2015 2019
CUI: C0003028
Disease: Anhidrosis
Anhidrosis 		disease Skin and Connective Tissue Diseases Disease or Syndrome 37 2 0.110 None 1.000 1 2014 2014
CUI: C0005612
Disease: Birth Weight
Birth Weight 		phenotype Pathological Conditions, Signs and Symptoms Organism Attribute 214 369 0.100 None 1.000 2 3 2016 2019
CUI: C0546837
Disease: Malignant neoplasm of esophagus
Malignant neoplasm of esophagus 		disease Digestive System Diseases; Neoplasms Neoplastic Process 1286 214 0.100 None 1.000 1 1 2011 2011
CUI: C1261502
Disease: Finding of Mean Corpuscular Hemoglobin
Finding of Mean Corpuscular Hemoglobin 		phenotype Finding 653 1206 0.100 None 1.000 1 1 2019 2019
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement 		phenotype Laboratory Procedure 717 1599 0.100 None 1.000 1 1 2019 2019
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement 		phenotype Laboratory Procedure 433 3282 0.100 None 1.000 1 1 2012 2012
CUI: C0231274
Disease: Intolerant of heat
Intolerant of heat 		phenotype Pathologic Function 19 7 0.100 None 0
CUI: C4024869
Disease: Generalized anhidrosis
Generalized anhidrosis 		phenotype Finding 1 0.100 None 0
CUI: C0279702
Disease: Conventional (Clear Cell) Renal Cell Carcinoma
Conventional (Clear Cell) Renal Cell Carcinoma 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 2346 222 0.050 None 1.000 5 2 2012 2017
CUI: C1862941
Disease: Amyotrophic Lateral Sclerosis, Sporadic
Amyotrophic Lateral Sclerosis, Sporadic 		disease Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 173 90 0.040 None 0.750 4 1 2007 2014
CUI: C0276496
Disease: Familial Alzheimer Disease (FAD)
Familial Alzheimer Disease (FAD) 		disease Nervous System Diseases; Mental Disorders Disease or Syndrome 260 95 0.030 None 1.000 3 2010 2016
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma 		disease Neoplasms; Nervous System Diseases Neoplastic Process 2419 231 0.020 None 1.000 2 2000 2002
CUI: C0079744
Disease: Diffuse Large B-Cell Lymphoma
Diffuse Large B-Cell Lymphoma 		disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 1043 127 0.020 None 1.000 2 2013 2014
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma 		disease Neoplasms Neoplastic Process 2509 386 0.020 None 1.000 2 2000 2002
CUI: C4086165
Disease: Childhood Neuroblastoma
Childhood Neuroblastoma 		disease Neoplasms Neoplastic Process 2420 231 0.020 None 1.000 2 2000 2002
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		disease Neoplasms; Male Urogenital Diseases Neoplastic Process 4388 1168 0.010 None 1.000 1 2015 2015