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: C0040822
Disease: Tremor
Tremor 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 528 52 0.100 None 0
CUI: C1843865
Disease: Vestibular dysfunction
Vestibular dysfunction 		phenotype Finding 16 0.100 None 0
CUI: C0231471
Disease: Abnormal posture
Abnormal posture 		phenotype Nervous System Diseases Finding 13 7 0.100 None 0
CUI: C0231688
Disease: Gait, Shuffling
Gait, Shuffling 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 28 2 0.100 None 0
CUI: C0234985
Disease: Mental deterioration
Mental deterioration 		phenotype Mental Disorders Mental or Behavioral Dysfunction 508 121 0.100 None 0
CUI: C0235095
Disease: Visual field constriction
Visual field constriction 		phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Finding 57 1 0.100 None 0
CUI: C0238651
Disease: Ankle clonus
Ankle clonus 		phenotype Finding 32 5 0.100 None 0
CUI: C3665346
Disease: Unspecified visual loss
Unspecified visual loss 		phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases Sign or Symptom 235 11 0.100 None 0
CUI: C0240735
Disease: Personality Change
Personality Change 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 43 6 0.100 None 0
CUI: C0241816
Disease: Global brain atrophy
Global brain atrophy 		phenotype Pathologic Function 41 6 0.100 None 0
CUI: C3665347
Disease: Visual Impairment
Visual Impairment 		phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Finding 422 0.100 None 0
CUI: C1837352
Disease: Childhood onset
Childhood onset 		phenotype Finding 56 0.100 None 0
CUI: C1843921
Disease: Postural instability
Postural instability 		phenotype Nervous System Diseases Finding 60 5 0.100 None 0
CUI: C0152191
Disease: Scotoma, Central
Scotoma, Central 		phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Finding 43 2 0.100 None 0
CUI: C0034935
Disease: Babinski Reflex
Babinski Reflex 		phenotype Finding 218 11 0.100 None 0
CUI: C0032290
Disease: Aspiration Pneumonia
Aspiration Pneumonia 		disease Infections; Respiratory Tract Diseases Disease or Syndrome 32 4 0.100 None 0
CUI: C1858116
Disease: Caudate atrophy
Caudate atrophy 		phenotype Finding 6 0.100 None 0
CUI: C1848954
Disease: Generalized dystonia
Generalized dystonia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 11 1 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
CUI: C1846176
Disease: Hyperactive deep tendon reflexes
Hyperactive deep tendon reflexes 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 32 2 0.100 None 0
CUI: C0151313
Disease: Sensory neuropathy
Sensory neuropathy 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 116 15 0.100 None 0
CUI: C0151889
Disease: Hyperreflexia
Hyperreflexia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 539 19 0.100 None 0
CUI: C1843156
Disease: Progressive sensorineural hearing impairment
Progressive sensorineural hearing impairment 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 78 28 0.100 None 0
CUI: C0027092
Disease: Myopia
Myopia 		disease Eye Diseases Disease or Syndrome 490 167 0.100 None 0
CUI: C1845977
Disease: X- linked recessive
X- linked recessive 		phenotype Finding 172 1 0.100 None 0