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: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		group Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 2780 385 0.020 None 1.000 2 2008 2008
CUI: C0432252
Disease: Osteoporosis with pseudoglioma
Osteoporosis with pseudoglioma 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases Disease or Syndrome 12 37 0.020 None 1.000 2 2013 2017
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		disease Neoplastic Process 3669 502 0.020 None 1.000 2 2014 2016
CUI: C0021655
Disease: Insulin Resistance
Insulin Resistance 		phenotype Nutritional and Metabolic Diseases Pathologic Function 162 53 0.200 None 1.000 2 2003 2007
CUI: C0242339
Disease: Dyslipidemias
Dyslipidemias 		group Nutritional and Metabolic Diseases Disease or Syndrome 471 184 0.010 None 1.000 1 2015 2015
CUI: C0238463
Disease: Papillary thyroid carcinoma
Papillary thyroid carcinoma 		disease Neoplasms; Endocrine System Diseases Neoplastic Process 1348 204 0.010 None 1.000 1 2018 2018
CUI: C0233794
Disease: Memory impairment
Memory impairment 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 763 48 0.010 None 1.000 1 2018 2018
CUI: C0085580
Disease: Essential Hypertension
Essential Hypertension 		disease Cardiovascular Diseases Disease or Syndrome 445 293 0.010 None 1.000 1 2007 2007
CUI: C0041408
Disease: Turner Syndrome
Turner Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases; Cardiovascular Diseases Disease or Syndrome 162 21 0.010 None 1.000 1 2016 2016
CUI: C0038454
Disease: Cerebrovascular accident
Cerebrovascular accident 		group Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 1658 591 0.100 None 1.000 1 1 2013 2013
CUI: C0271561
Disease: Somatotropin deficiency
Somatotropin deficiency 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases Disease or Syndrome 154 14 0.010 None 1.000 1 2016 2016
CUI: C0271650
Disease: Impaired glucose tolerance
Impaired glucose tolerance 		phenotype Nutritional and Metabolic Diseases Disease or Syndrome 596 81 0.010 None 1.000 1 2007 2007
CUI: C0542476
Disease: Forgetful
Forgetful 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Sign or Symptom 429 18 0.010 None 1.000 1 2018 2018
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 6776 2793 0.010 None 1.000 1 2019 2019
CUI: C0524851
Disease: Neurodegenerative Disorders
Neurodegenerative Disorders 		group Nervous System Diseases Disease or Syndrome 1515 85 0.010 None 1.000 1 2018 2018
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma 		disease Digestive System Diseases; Neoplasms Neoplastic Process 2832 275 0.010 None 1.000 1 2009 2009
CUI: C0432194
Disease: Schneckenbecken dysplasia
Schneckenbecken dysplasia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 2 3 0.300 None 1.000 1 2015 2015
CUI: C0344315
Disease: Depressed mood
Depressed mood 		phenotype Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 1461 269 0.010 None 1.000 1 2019 2019
CUI: C0343284
Disease: Chondrodysplasia
Chondrodysplasia 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 71 1 0.010 None 1.000 1 2017 2017
CUI: C0856169
Disease: Endothelial dysfunction
Endothelial dysfunction 		phenotype Disease or Syndrome 716 25 0.010 None 1.000 1 2017 2017
CUI: C0280324
Disease: Laryngeal Squamous Cell Carcinoma
Laryngeal Squamous Cell Carcinoma 		disease Neoplasms; Respiratory Tract Diseases; Otorhinolaryngologic Diseases Neoplastic Process 504 30 0.010 None 1.000 1 2019 2019
CUI: C0595989
Disease: Carcinoma of larynx
Carcinoma of larynx 		disease Neoplasms; Respiratory Tract Diseases; Otorhinolaryngologic Diseases Neoplastic Process 456 65 0.010 None < 0.001 1 2019 2019
CUI: C0038356
Disease: Stomach Neoplasms
Stomach Neoplasms 		group Digestive System Diseases; Neoplasms Neoplastic Process 820 55 0.010 None 1.000 1 2016 2016
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 6941 3417 0.010 None 1.000 1 2019 2019
CUI: C0023440
Disease: Acute Erythroblastic Leukemia
Acute Erythroblastic Leukemia 		disease Neoplasms; Hemic and Lymphatic Diseases Neoplastic Process 302 5 0.010 None 1.000 1 2002 2002