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: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 783 111 0.100 None 0
CUI: C0233794
Disease: Memory impairment
Memory impairment 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 763 48 0.100 None 0
CUI: C0015672
Disease: Fatigue
Fatigue 		phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 760 67 0.100 None 0 1
CUI: C4529962
Disease: Fatty Liver Disease
Fatty Liver Disease 		disease Disease or Syndrome 741 81 0.010 None 1.000 1 2018 2018
CUI: C0038379
Disease: Strabismus
Strabismus 		disease Eye Diseases; Nervous System Diseases Disease or Syndrome 716 89 0.100 None 0
CUI: C0035309
Disease: Retinal Diseases
Retinal Diseases 		group Eye Diseases Disease or Syndrome 714 56 0.010 None 1.000 1 2014 2014
CUI: C0175754
Disease: Agenesis of corpus callosum
Agenesis of corpus callosum 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 615 45 0.010 None 1.000 1 2014 2014
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Finding 590 77 0.100 None 0
CUI: C0026838
Disease: Muscle Spasticity
Muscle Spasticity 		phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Sign or Symptom 580 48 0.100 None 0
CUI: C0033975
Disease: Psychotic Disorders
Psychotic Disorders 		group Mental Disorders Mental or Behavioral Dysfunction 560 179 0.100 None 0
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		phenotype Behavior and Behavior Mechanisms Finding 560 192 0.100 None 0
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 546 541 0.010 None 1.000 1 2014 2014
CUI: C0151889
Disease: Hyperreflexia
Hyperreflexia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 539 19 0.100 None 0 1
CUI: C0151786
Disease: Muscle Weakness
Muscle Weakness 		phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Sign or Symptom 536 87 0.100 None 0
CUI: C0040822
Disease: Tremor
Tremor 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 528 52 0.100 None 0
CUI: C0027092
Disease: Myopia
Myopia 		disease Eye Diseases Disease or Syndrome 490 167 0.100 None 0 1
CUI: C0239234
Disease: Low set ears
Low set ears 		disease Congenital Abnormality 489 64 0.100 None 0
CUI: C0013362
Disease: Dysarthria
Dysarthria 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Mental or Behavioral Dysfunction 487 54 0.100 None 0
CUI: C4553743
Disease: Spasticity, CTCAE
Spasticity, CTCAE 		phenotype Finding 477 0.100 None 0
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties 		phenotype Finding 473 62 0.100 None 0
CUI: C0017168
Disease: Gastroesophageal reflux disease
Gastroesophageal reflux disease 		disease Digestive System Diseases Disease or Syndrome 446 52 0.100 None 0
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 441 120 0.010 None 1.000 1 2018 2018
CUI: C0542476
Disease: Forgetful
Forgetful 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Sign or Symptom 429 18 0.100 None 0
CUI: C0520947
Disease: Clumsiness - motor delay
Clumsiness - motor delay 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Disease or Syndrome 393 2 0.100 None 0
CUI: C1854301
Disease: Motor delay
Motor delay 		phenotype Mental Disorders Finding 384 34 0.100 None 0