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: C0476254
Disease: Dyslexia
Dyslexia
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders Mental or Behavioral Dysfunction 118 30 0.010 None 1.000 1 2012 2012
CUI: C0521158
Disease: Recurrent tumor
Recurrent tumor
phenotype Neoplastic Process 735 33 0.010 None 1.000 1 2001 2001
CUI: C0521516
Disease: Polymyalgia
Polymyalgia
phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Sign or Symptom 1 0.010 None 1.000 1 2017 2017
CUI: C0525045
Disease: Mood Disorders
Mood Disorders
group Mental Disorders Mental or Behavioral Dysfunction 580 308 0.010 None 1.000 1 2017 2017
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 2017 2017
CUI: C0563625
Disease: Agnosia for Pain
Agnosia for Pain
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 204 25 0.010 None 1.000 1 2017 2017
Klinefelter's syndrome - male with more than two X chromosomes
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Congenital Abnormality 90 5 0.010 None 1.000 1 2013 2013
CUI: C0431663
Disease: Bilateral Cryptorchidism
Bilateral Cryptorchidism
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Male Urogenital Diseases; Endocrine System Diseases Congenital Abnormality 48 9 0.010 None 1.000 1 2014 2014
CUI: C0410207
Disease: Tubular Aggregate Myopathy
Tubular Aggregate Myopathy
disease Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 67 5 0.010 None 1.000 1 2011 2011
CUI: C0345904
Disease: Malignant neoplasm of liver
Malignant neoplasm of liver
disease Digestive System Diseases; Neoplasms Neoplastic Process 1649 88 0.010 None 1.000 1 1998 1998
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 183 91 0.010 None 1.000 1 2006 2006
CUI: C0346957
Disease: Disseminated Malignant Neoplasm
Disseminated Malignant Neoplasm
phenotype Neoplasms Neoplastic Process 232 4 0.010 None 1.000 1 2018 2018
CUI: C0400966
Disease: Non-alcoholic Fatty Liver Disease
Non-alcoholic Fatty Liver Disease
disease Digestive System Diseases Disease or Syndrome 1058 222 0.010 None < 0.001 1 2019 2019
CUI: C0404484
Disease: Chronic pelvic pain of female
Chronic pelvic pain of female
phenotype Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications Sign or Symptom 15 0.010 None 1.000 1 2007 2007
CUI: C0406670
Disease: Vulvodynia
Vulvodynia
disease Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome 6 1 0.010 None 1.000 1 2018 2018
CUI: C0406810
Disease: Carney Complex
Carney Complex
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Cardiovascular Diseases Disease or Syndrome 82 27 0.010 None 1.000 1 2006 2006
CUI: C0409980
Disease: Primary antiphospholipid syndrome
Primary antiphospholipid syndrome
disease Immune System Diseases Disease or Syndrome 29 1 0.010 None 1.000 1 2019 2019
CUI: C0595921
Disease: Intraocular pressure disorder
Intraocular pressure disorder
disease Eye Diseases Disease or Syndrome 304 56 0.010 None 1.000 1 2018 2018
CUI: C0429468
Disease: Anovulatory (finding)
Anovulatory (finding)
disease Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Disease or Syndrome 55 8 0.010 None 1.000 1 2018 2018
CUI: C0039520
Disease: Tenosynovitis
Tenosynovitis
disease Musculoskeletal Diseases Disease or Syndrome 7 0.010 None 1.000 1 2017 2017
Vasculitis, Leukocytoclastic, Cutaneous
disease Immune System Diseases; Cardiovascular Diseases Disease or Syndrome 18 1 0.010 None 1.000 1 2019 2019
CUI: C0151744
Disease: Myocardial Ischemia
Myocardial Ischemia
disease Cardiovascular Diseases Disease or Syndrome 756 103 0.010 None 1.000 1 2019 2019
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 507 248 0.010 None 1.000 1 2016 2016
CUI: C0151786
Disease: Muscle Weakness
Muscle Weakness
phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Sign or Symptom 536 87 0.010 None 1.000 1 2017 2017
CUI: C0151936
Disease: Disorder of tendon
Disorder of tendon
group Skin and Connective Tissue Diseases; Musculoskeletal Diseases Disease or Syndrome 79 14 0.010 None 1.000 1 2018 2018