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: C0743101
Disease: developmentally delayed
developmentally delayed 		phenotype Disease or Syndrome 11 0.010 None 1.000 1 2019 2019
CUI: C0041296
Disease: Tuberculosis
Tuberculosis 		disease Infections Disease or Syndrome 1256 328 0.010 None 1.000 1 2019 2019
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 234 368 0.010 None 1.000 1 1 2019 2019
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		disease Digestive System Diseases Disease or Syndrome 1382 1147 0.100 None 1.000 1 1 2019 2019
CUI: C0235031
Disease: Neurologic Symptoms
Neurologic Symptoms 		group Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 233 30 0.300 None 1.000 1 2018 2018
CUI: C0027854
Disease: Neurologic Manifestations
Neurologic Manifestations 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 12 0.300 None 1.000 1 2018 2018
CUI: C0751377
Disease: Neurologic Dysfunction
Neurologic Dysfunction 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 6 0.300 None 1.000 1 2018 2018
CUI: C0201850
Disease: Alkaline phosphatase measurement
Alkaline phosphatase measurement 		phenotype Laboratory Procedure 42 79 0.100 None 1.000 1 1 2018 2018
CUI: C0422837
Disease: Neurological observations
Neurological observations 		group Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 6 0.300 None 1.000 1 2018 2018
CUI: C0276289
Disease: Zika Virus Infection
Zika Virus Infection 		disease Infections Disease or Syndrome 192 1 0.010 None 1.000 1 2018 2018
CUI: C0751378
Disease: Neurologic Signs
Neurologic Signs 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 13 1 0.300 None 1.000 1 2018 2018
CUI: C0746857
Disease: Focal Neurologic Deficits
Focal Neurologic Deficits 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 6 0.300 None 1.000 1 2018 2018
CUI: C0521654
Disease: Neurologic Deficits
Neurologic Deficits 		group Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 8 4 0.300 None 1.000 1 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: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Neoplastic Process 2563 315 0.010 None 1.000 1 2017 2017
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Neoplastic Process 2542 757 0.010 None 1.000 1 2017 2017
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		phenotype Neoplastic Process 6626 169 0.010 None 1.000 1 2016 2016
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		disease Eye Diseases Disease or Syndrome 685 663 0.010 None 1.000 1 2014 2014
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior 		phenotype Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 910 121 0.110 None 1.000 1 2014 2014
CUI: C0038379
Disease: Strabismus
Strabismus 		disease Eye Diseases; Nervous System Diseases Disease or Syndrome 716 89 0.010 None 1.000 1 2014 2014
CUI: C0423063
Disease: Comitant heterophoria
Comitant heterophoria 		disease Eye Diseases; Nervous System Diseases Disease or Syndrome 5 0.010 None 1.000 1 2014 2014
CUI: C0020796
Disease: Profound Mental Retardation
Profound Mental Retardation 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 160 3 0.300 None 1.000 1 2013 2013
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 429 74 0.010 None 1.000 1 2013 2013
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		group Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 2165 159 0.400 None 1.000 1 2013 2013
CUI: C0025363
Disease: Mental Retardation, Psychosocial
Mental Retardation, Psychosocial 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 142 2 0.300 None 1.000 1 2013 2013