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.
Neuronal loss in central nervous system
phenotype Finding 32 0.100 0
CUI: C1411876
Disease: Developmental arithmetic disorder
Developmental arithmetic disorder
disease Mental or Behavioral Dysfunction 11 0.100 0
Difficulty making arithmetical calculations
phenotype Finding 10 0.100 0
CUI: C1142448
Disease: Apraxia of eyelid
Apraxia of eyelid
phenotype Finding 3 0.100 0
CUI: C0973461
Disease: Dysphasia
Dysphasia
disease Nervous System Diseases; Pathological Conditions, Signs and Symptoms Mental or Behavioral Dysfunction 40 0.100 0
CUI: C0948163
Disease: Leukoaraiosis
Leukoaraiosis
phenotype Pathological Conditions, Signs and Symptoms Pathologic Function 36 2 0.100 0
CUI: C0751401
Disease: Ophthalmoparesis
Ophthalmoparesis
phenotype Eye Diseases; Nervous System Diseases; Pathological Conditions, Signs and Symptoms Sign or Symptom 19 1 0.100 0
CUI: C0575158
Disease: Kyphoscoliosis deformity of spine
Kyphoscoliosis deformity of spine
phenotype Anatomical Abnormality 83 1 0.100 0
CUI: C0038271
Disease: Stereotyped Behavior
Stereotyped Behavior
phenotype Behavior and Behavior Mechanisms Finding 77 2 0.100 0 1
CUI: C1457883
Disease: Aggressive reaction
Aggressive reaction
phenotype Mental or Behavioral Dysfunction 109 0.100 0
CUI: C1527347
Disease: Difficulty speaking
Difficulty speaking
phenotype Finding 72 0.100 0
CUI: C0026884
Disease: Mutism
Mutism
phenotype Mental Disorders; Nervous System Diseases; Pathological Conditions, Signs and Symptoms Disease or Syndrome 22 1 0.100 0 1
CUI: C1848207
Disease: Poor speech
Poor speech
phenotype Finding 75 2 0.100 0
CUI: C1838320
Disease: Hyperorality
Hyperorality
phenotype Finding 10 0.100 0
Primitive reflexes (palmomental, snout, glabellar)
phenotype Finding 9 0.100 0
CUI: C1836940
Disease: Thickened nuchal skin fold
Thickened nuchal skin fold
phenotype Finding 35 0.100 0
CUI: C1836151
Disease: Frontolimbic dementia
Frontolimbic dementia
phenotype Finding 1 0.100 0
CUI: C1836150
Disease: Gait imbalance
Gait imbalance
phenotype Finding 22 3 0.100 0
CUI: C1836149
Disease: Axial dystonia
Axial dystonia
phenotype Finding 3 0.100 0
CUI: C0233469
Disease: Blunted affect
Blunted affect
phenotype Mental or Behavioral Dysfunction 9 0.100 0
CUI: C0038273
Disease: Stereotypic Movement Disorder
Stereotypic Movement Disorder
phenotype Mental Disorders Mental or Behavioral Dysfunction 91 8 0.100 0 1
CUI: C0542476
Disease: Forgetful
Forgetful
phenotype Sign or Symptom 58 0.100 0
CUI: C0542223
Disease: Loss of speech
Loss of speech
phenotype Finding 22 0.100 0
CUI: C0232461
Disease: Increased appetite (finding)
Increased appetite (finding)
phenotype Finding 33 0.100 0
CUI: C0233522
Disease: Inappropriate behavior
Inappropriate behavior
phenotype Mental or Behavioral Dysfunction 12 0.100 0