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: C0338656
Disease: Impaired cognition
Impaired cognition 		disease Mental Disorders Mental or Behavioral Dysfunction 1630 348 0.010 None 1.000 1 2019 2019
CUI: C0022735
Disease: Klinefelter Syndrome
Klinefelter Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome 150 18 0.010 None 1.000 1 2016 2016
CUI: C0009241
Disease: Cognition Disorders
Cognition Disorders 		group Mental Disorders Mental or Behavioral Dysfunction 607 47 0.010 None 1.000 1 2019 2019
CUI: C0004936
Disease: Mental disorders
Mental disorders 		group Mental Disorders Mental or Behavioral Dysfunction 789 149 0.010 None 1.000 1 2019 2019
CUI: C0004238
Disease: Atrial Fibrillation
Atrial Fibrillation 		disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 939 584 0.010 None 1.000 1 2017 2017
CUI: C0428883
Disease: Diastolic blood pressure
Diastolic blood pressure 		phenotype Clinical Attribute 507 1037 0.100 None 1.000 3 3 2017 2019
CUI: C1821417
Disease: RESTING HEART RATE
RESTING HEART RATE 		phenotype Finding 80 134 0.100 None 1.000 2 2 2016 2018
CUI: C0018810
Disease: heart rate
heart rate 		phenotype Clinical Attribute 36 103 0.100 None 1.000 2 2 2013 2018
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure 		phenotype Clinical Attribute 843 1931 0.100 None 1.000 1 1 2013 2013
CUI: C1306620
Disease: Systolic blood pressure measurement
Systolic blood pressure measurement 		phenotype Diagnostic Procedure 54 95 0.100 None 1.000 1 1 2013 2013
CUI: C1609433
Disease: Congenital absence of kidneys syndrome
Congenital absence of kidneys syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 110 0.100 None 0
CUI: C1387005
Disease: Penis agenesis
Penis agenesis 		disease Male Urogenital Diseases Congenital Abnormality 217 11 0.100 None 0
CUI: C1384606
Disease: Dyspareunia
Dyspareunia 		phenotype Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Mental Disorders Finding 37 0.100 None 0
CUI: C0575081
Disease: Gait abnormality
Gait abnormality 		group Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 312 23 0.100 None 0
CUI: C0541764
Disease: Delayed bone age
Delayed bone age 		phenotype Finding 295 14 0.100 None 0
CUI: C0520927
Disease: Decreased fertility
Decreased fertility 		phenotype Finding 50 0.100 None 0
CUI: C0454455
Disease: Mirror movements disorder
Mirror movements disorder 		disease Nervous System Diseases Disease or Syndrome 39 9 0.100 None 0
CUI: C0410528
Disease: Skeletal dysplasia
Skeletal dysplasia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 186 65 0.100 None 0
CUI: C1858573
Disease: Sparse pubic hair
Sparse pubic hair 		phenotype Finding 42 0.100 None 0
CUI: C1858574
Disease: Sparse axillary hair
Sparse axillary hair 		phenotype Finding 39 0.100 None 0
CUI: C4551915
Disease: Gait Disturbance, CTCAE
Gait Disturbance, CTCAE 		phenotype Finding 299 0.100 None 0
CUI: C4049796
Disease: Abnormality of cardiovascular system morphology
Abnormality of cardiovascular system morphology 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality 198 13 0.100 None 0
CUI: C4025821
Disease: Anterior hypopituitarism
Anterior hypopituitarism 		disease Nervous System Diseases; Endocrine System Diseases Disease or Syndrome 48 0.100 None 0
CUI: C4025644
Disease: Hypothalamic gonadotropin-releasing hormone deficiency
Hypothalamic gonadotropin-releasing hormone deficiency 		phenotype Finding 22 0.100 None 0
CUI: C4024202
Disease: Reduced number of teeth
Reduced number of teeth 		phenotype Finding 67 11 0.100 None 0