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: C0010417
Disease: Cryptorchidism
Cryptorchidism 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Male Urogenital Diseases; Endocrine System Diseases Congenital Abnormality 725 80 0.100 None 0
CUI: C0266362
Disease: Ambiguous Genitalia
Ambiguous Genitalia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Congenital Abnormality 109 14 0.100 None 0
CUI: C0238395
Disease: Male Pseudohermaphroditism
Male Pseudohermaphroditism 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Congenital Abnormality 50 4 0.100 None 0
CUI: C4022995
Disease: Sex reversal
Sex reversal 		phenotype Finding 14 0.100 None 0
CUI: C1843013
Disease: Alzheimer disease, familial, type 3
Alzheimer disease, familial, type 3 		disease Nervous System Diseases; Mental Disorders Disease or Syndrome 213 124 0.010 None < 0.001 1 2003 2003
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		disease Nervous System Diseases; Mental Disorders Disease or Syndrome 3397 1843 0.100 None 0.929 14 2001 2019
CUI: C1270972
Disease: Mild cognitive disorder
Mild cognitive disorder 		disease Mental Disorders Mental or Behavioral Dysfunction 430 96 0.060 None 1.000 6 2016 2018
CUI: C0497327
Disease: Dementia
Dementia 		disease Nervous System Diseases; Mental Disorders Mental or Behavioral Dysfunction 816 176 0.060 None 1.000 6 2013 2019
CUI: C0011265
Disease: Presenile dementia
Presenile dementia 		disease Nervous System Diseases; Mental Disorders Mental or Behavioral Dysfunction 718 159 0.060 None 1.000 6 2013 2019
CUI: C0338656
Disease: Impaired cognition
Impaired cognition 		disease Mental Disorders Mental or Behavioral Dysfunction 1630 348 0.050 None 1.000 5 2009 2019
CUI: C0262404
Disease: Cerebellar degeneration
Cerebellar degeneration 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 60 0.030 None 1.000 3 1987 1997
CUI: C0751072
Disease: Frontotemporal Lobar Degeneration
Frontotemporal Lobar Degeneration 		disease Nutritional and Metabolic Diseases; Nervous System Diseases; Mental Disorders Mental or Behavioral Dysfunction 195 54 0.020 None 1.000 2 2019 2019
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		disease Neoplasms Neoplastic Process 3111 6892 0.020 None 1.000 2 1993 1996
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement 		phenotype Laboratory Procedure 563 1418 0.100 None 1.000 2 1 2013 2017
CUI: C0338831
Disease: Manic
Manic 		disease Mental Disorders Mental or Behavioral Dysfunction 166 8 0.320 None 1.000 2 2011 2012
CUI: C0017601
Disease: Glaucoma
Glaucoma 		disease Eye Diseases Disease or Syndrome 770 198 0.020 None 1.000 2 2018 2019
CUI: C0009241
Disease: Cognition Disorders
Cognition Disorders 		group Mental Disorders Mental or Behavioral Dysfunction 607 47 0.020 None 1.000 2 2015 2018
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		group Neoplasms Neoplastic Process 8621 1641 0.020 None 1.000 2 2017 2019
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder 		disease Mental Disorders Mental or Behavioral Dysfunction 1183 839 0.510 None 1.000 2 2011 2012
CUI: C3494623
Disease: Mild dementia
Mild dementia 		disease Nervous System Diseases; Mental Disorders Mental or Behavioral Dysfunction 16 0.020 None 1.000 2 2013 2019
CUI: C0242422
Disease: Parkinsonian Disorders
Parkinsonian Disorders 		group Nervous System Diseases Disease or Syndrome 373 95 0.010 None 1.000 1 2011 2011
CUI: C0409974
Disease: Lupus Erythematosus
Lupus Erythematosus 		disease Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases; Immune System Diseases Disease or Syndrome 558 44 0.010 None 1.000 1 2017 2017
CUI: C0279000
Disease: Liver and Intrahepatic Biliary Tract Carcinoma
Liver and Intrahepatic Biliary Tract Carcinoma 		disease Digestive System Diseases; Neoplasms Neoplastic Process 1395 73 0.010 None 1.000 1 2019 2019
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 2019 2019
CUI: C0344315
Disease: Depressed mood
Depressed mood 		phenotype Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 1461 269 0.010 None 1.000 1 2017 2017