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: C0233514
Disease: Abnormal behavior
Abnormal behavior 		phenotype Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 910 121 0.010 None 1.000 1 2012 2012
CUI: C4024756
Disease: Abnormality of macular pigmentation
Abnormality of macular pigmentation 		disease Anatomical Abnormality 25 0.100 None 0
CUI: C1862475
Disease: Abnormality of retinal pigmentation
Abnormality of retinal pigmentation 		phenotype Finding 215 5 0.100 None 0
CUI: C0003850
Disease: Arteriosclerosis
Arteriosclerosis 		disease Cardiovascular Diseases Disease or Syndrome 2006 267 0.010 None 1.000 1 2019 2019
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis 		disease Cardiovascular Diseases Disease or Syndrome 2044 281 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 2014 2014
CUI: C0006012
Disease: Borderline Personality Disorder
Borderline Personality Disorder 		disease Mental Disorders Mental or Behavioral Dysfunction 221 82 0.010 None 1.000 1 2012 2012
CUI: C0006287
Disease: Bronchopulmonary Dysplasia
Bronchopulmonary Dysplasia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases Disease or Syndrome 423 112 0.010 None 1.000 1 2012 2012
CUI: C0009398
Disease: Color vision defect
Color vision defect 		phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome 94 4 0.100 None 0
CUI: C0730290
Disease: Cone Dystrophy
Cone Dystrophy 		disease Eye Diseases Disease or Syndrome 48 31 0.010 None 1.000 1 2006 2006
CUI: C4085590
Disease: Cone-Rod Dystrophies
Cone-Rod Dystrophies 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 86 53 0.100 None 0
CUI: C3489532
Disease: Cone-Rod Dystrophy 2
Cone-Rod Dystrophy 2 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 254 51 0.300 None 1.000 1 2006 2006
CUI: C0015397
Disease: Disorder of eye
Disorder of eye 		group Eye Diseases Disease or Syndrome 400 14 0.300 limited 0
CUI: C4021561
Disease: Electronegative electroretinogram
Electronegative electroretinogram 		phenotype Finding 3 0.100 None 0
CUI: C0019693
Disease: HIV Infections
HIV Infections 		group Infections; Immune System Diseases Disease or Syndrome 807 142 0.010 None 1.000 1 1991 1991
CUI: C2363741
Disease: HIV-1 infection
HIV-1 infection 		disease Disease or Syndrome 695 94 0.020 None 1.000 2 1991 2017
CUI: C1298695
Disease: Hypoplasia of optic disc
Hypoplasia of optic disc 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases Congenital Abnormality 31 0.100 None 0
CUI: C0596887
Disease: mathematical ability
mathematical ability 		phenotype Mental Process 854 2127 0.100 None 1.000 1 1 2018 2018
CUI: C0004936
Disease: Mental disorders
Mental disorders 		group Mental Disorders Mental or Behavioral Dysfunction 789 149 0.010 None 1.000 1 2012 2012
CUI: C0339535
Disease: Night blindness, congenital stationary
Night blindness, congenital stationary 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality 32 52 0.510 strong 0.667 3 2009 2016
CUI: C0028077
Disease: Nyctalopia
Nyctalopia 		disease Eye Diseases Disease or Syndrome 168 18 0.110 None 1.000 1 2006 2006
CUI: C0028738
Disease: Nystagmus
Nystagmus 		disease Eye Diseases; Nervous System Diseases Disease or Syndrome 833 95 0.100 None 0
CUI: C1963184
Disease: Nystagmus, CTCAE 3.0
Nystagmus, CTCAE 3.0 		phenotype Finding 779 0.100 None 0
CUI: C4554036
Disease: Nystagmus, CTCAE 5.0
Nystagmus, CTCAE 5.0 		phenotype Finding 779 0.100 None 0
CUI: C0085636
Disease: Photophobia
Photophobia 		phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Sign or Symptom 227 7 0.100 None 0