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: C0701826
Disease: Perinatal death
Perinatal death 		phenotype Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications Finding 1 0.300 None 1.000 1 2017 2017
CUI: C4539985
Disease: CEREBELLAR ATROPHY, DEVELOPMENTAL DELAY, AND SEIZURES
CEREBELLAR ATROPHY, DEVELOPMENTAL DELAY, AND SEIZURES 		disease Disease or Syndrome 1 1 0.410 None 1.000 1 1 2016 2016
CUI: C1836173
Disease: Generalized Epilepsy and Paroxysmal Dyskinesia
Generalized Epilepsy and Paroxysmal Dyskinesia 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 2 4 0.730 None 1.000 5 4 2005 2019
CUI: C1851303
Disease: Abnormality of the renal collecting system
Abnormality of the renal collecting system 		phenotype Finding 2 1 0.100 None 0 1
CUI: C1849357
Disease: Abnormality of the aryepiglottic fold
Abnormality of the aryepiglottic fold 		disease Anatomical Abnormality 3 1 0.100 None 0 1
CUI: C1858719
Disease: Facial muscle weakness of muscles innervated by CN VII
Facial muscle weakness of muscles innervated by CN VII 		phenotype Finding 3 3 0.100 None 0 1
CUI: C0730271
Disease: Myopic macular degeneration
Myopic macular degeneration 		disease Eye Diseases Disease or Syndrome 4 4 0.010 None 1.000 1 1 2019 2019
CUI: C0426209
Disease: amniotic fluid meconium stained
amniotic fluid meconium stained 		phenotype Finding 4 4 0.100 None 0 1
CUI: C0578475
Disease: Cyanotic attack
Cyanotic attack 		phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 4 3 0.100 None 0 1
CUI: C1835117
Disease: Increased axial length of the globe
Increased axial length of the globe 		phenotype Finding 4 1 0.100 None 0 1
CUI: C4023684
Disease: EEG with spike-wave complexes (>3.5 Hz)
EEG with spike-wave complexes (>3.5 Hz) 		phenotype Finding 5 0.100 None 0
CUI: C1866806
Disease: Unilateral ptosis
Unilateral ptosis 		phenotype Eye Diseases Finding 6 4 0.100 None 0 1
CUI: C4476705
Disease: Upgaze palsy
Upgaze palsy 		disease Disease or Syndrome 7 1 0.100 None 0 1
CUI: C4551519
Disease: Abducens Nerve Palsy
Abducens Nerve Palsy 		disease Nervous System Diseases Disease or Syndrome 8 2 0.100 None 0 1
CUI: C0311338
Disease: Fundus Albipunctatus
Fundus Albipunctatus 		disease Eye Diseases Congenital Abnormality 9 21 0.010 None 1.000 1 2014 2014
CUI: C4551633
Disease: Pigmentary retinal dystrophy
Pigmentary retinal dystrophy 		disease Eye Diseases Disease or Syndrome 9 4 0.010 None 1.000 1 2014 2014
CUI: C1869117
Disease: Paroxysmal nonkinesigenic dyskinesia
Paroxysmal nonkinesigenic dyskinesia 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 10 5 0.010 None 1.000 1 2019 2019
CUI: C4022761
Disease: Reduced brain N-acetyl aspartate level by MRS
Reduced brain N-acetyl aspartate level by MRS 		phenotype Finding 11 8 0.100 None 0 1
CUI: C3469605
Disease: PSEUDOHYPOALDOSTERONISM, TYPE IID
PSEUDOHYPOALDOSTERONISM, TYPE IID 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 13 29 0.010 None 1.000 1 2013 2013
CUI: C0311468
Disease: Increased bilirubin level (finding)
Increased bilirubin level (finding) 		phenotype Pathological Conditions, Signs and Symptoms Finding 14 8 0.100 None 0 1
CUI: C0752210
Disease: Dyskinesias, Paroxysmal
Dyskinesias, Paroxysmal 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 15 3 0.130 None 1.000 3 2017 2018
CUI: C0343532
Disease: Streptococcal toxic shock syndrome
Streptococcal toxic shock syndrome 		phenotype Pathological Conditions, Signs and Symptoms; Infections Disease or Syndrome 16 0.020 None 1.000 2 2010 2014
CUI: C0006009
Disease: Borderline intellectual disability
Borderline intellectual disability 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 16 3 0.100 None 0
CUI: C4023681
Disease: Delayed fine motor development
Delayed fine motor development 		phenotype Finding 19 13 0.100 None 0 1
CUI: C0235222
Disease: Diastolic hypertension
Diastolic hypertension 		disease Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 21 1 0.020 None 1.000 2 2004 2005