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: C0023487
Disease: Acute Promyelocytic Leukemia
Acute Promyelocytic Leukemia 		disease Neoplasms Neoplastic Process 651 21 0.010 None 1.000 1 1989 1989
CUI: C4739246
Disease: Apnea+hypopnea
Apnea+hypopnea 		disease Disease or Syndrome 17 3 0.020 None 1.000 2 2008 2019
CUI: C1263846
Disease: Attention deficit hyperactivity disorder
Attention deficit hyperactivity disorder 		disease Mental Disorders Mental or Behavioral Dysfunction 842 420 0.010 None 1.000 1 2019 2019
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		phenotype Laboratory Procedure 1156 2575 0.100 None 1.000 2 2 2018 2018
CUI: C4721610
Disease: Carcinoma, Ovarian Epithelial
Carcinoma, Ovarian Epithelial 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Neoplastic Process 2841 327 0.010 None 1.000 1 2017 2017
CUI: C0007384
Disease: Cataplexy
Cataplexy 		disease Nervous System Diseases; Mental Disorders Disease or Syndrome 36 5 0.020 None 1.000 2 2017 2019
CUI: C3887547
Disease: Central sleep apnea syndrome
Central sleep apnea syndrome 		disease Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Nervous System Diseases; Mental Disorders Disease or Syndrome 11 0.010 None 1.000 1 2017 2017
CUI: C4048328
Disease: cervical cancer
cervical cancer 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process 1817 268 0.020 None 1.000 2 1983 2018
CUI: C0302592
Disease: Cervix carcinoma
Cervix carcinoma 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process 1881 283 0.010 None 1.000 1 2018 2018
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 669 77 0.010 None 1.000 1 2004 2004
CUI: C0235162
Disease: Difficulty sleeping
Difficulty sleeping 		phenotype Mental Disorders Sign or Symptom 40 4 0.010 None 1.000 1 2019 2019
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 766 80 0.010 None 1.000 1 2004 2004
CUI: C0013537
Disease: Eclampsia
Eclampsia 		disease Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome 241 38 0.010 None 1.000 1 2016 2016
CUI: C4551761
Disease: Excessive daytime sleepiness
Excessive daytime sleepiness 		phenotype Sign or Symptom 46 5 0.010 None 1.000 1 2017 2017
CUI: C1833921
Disease: Familial medullary thyroid carcinoma
Familial medullary thyroid carcinoma 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Endocrine System Diseases Neoplastic Process 56 45 0.010 None 1.000 1 2002 2002
CUI: C0439053
Disease: Fatigue - symptom
Fatigue - symptom 		phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 5 0.010 None 1.000 1 2019 2019
CUI: C0015934
Disease: Fetal Growth Retardation
Fetal Growth Retardation 		phenotype Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome 1037 21 0.010 None 1.000 1 2016 2016
CUI: C0015967
Disease: Fever
Fever 		phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 1021 66 0.010 None 1.000 1 2019 2019
CUI: C0017650
Disease: Globus Hystericus
Globus Hystericus 		phenotype Mental Disorders Sign or Symptom 3 0.010 None 1.000 1 2018 2018
CUI: C0020179
Disease: Huntington Disease
Huntington Disease 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders Disease or Syndrome 978 115 0.010 None 1.000 1 2017 2017
CUI: C0020217
Disease: Hydatidiform Mole
Hydatidiform Mole 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process 123 0.010 None 1.000 1 1990 1990
CUI: C3463897
Disease: HYDATIDIFORM MOLE, RECURRENT, 1
HYDATIDIFORM MOLE, RECURRENT, 1 		disease Disease or Syndrome 66 14 0.010 None 1.000 1 1990 1990
CUI: C0917799
Disease: Hypersomnia
Hypersomnia 		disease Nervous System Diseases; Mental Disorders Disease or Syndrome 70 7 0.010 None 1.000 1 2018 2018
CUI: C0751229
Disease: Hypersomnolence
Hypersomnolence 		phenotype Nervous System Diseases; Mental Disorders Mental or Behavioral Dysfunction 7 0.020 None 1.000 2 2017 2017
CUI: C0751757
Disease: Hypersomnolence, Idiopathic
Hypersomnolence, Idiopathic 		disease Nervous System Diseases; Mental Disorders Disease or Syndrome 7 0.010 None 1.000 1 2017 2017