PRNP, prion protein, 5621

N. diseases: 426; N. variants: 47
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: C3805618
Disease: CEREBRAL AMYLOID ANGIOPATHY, PRNP-RELATED
CEREBRAL AMYLOID ANGIOPATHY, PRNP-RELATED 		disease Disease or Syndrome 1 4 0.100 None 0 4
CUI: C0740651
Disease: Abdominal symptom
Abdominal symptom 		phenotype Sign or Symptom 17 3 0.100 None 0
CUI: C0026837
Disease: Muscle Rigidity
Muscle Rigidity 		phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Sign or Symptom 320 25 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: C3665347
Disease: Visual Impairment
Visual Impairment 		phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Finding 422 0.100 None 0
CUI: C3278923
Disease: Dilated ventricles (finding)
Dilated ventricles (finding) 		phenotype Finding 427 32 0.100 None 0
CUI: C3277688
Disease: Progressive forgetfulness
Progressive forgetfulness 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms Finding 3 1 0.100 None 0
CUI: C0027746
Disease: Nerve Degeneration
Nerve Degeneration 		phenotype Pathological Conditions, Signs and Symptoms Cell or Molecular Dysfunction 165 17 0.100 None 0
CUI: C0085400
Disease: Neurofibrillary degeneration (morphologic abnormality)
Neurofibrillary degeneration (morphologic abnormality) 		phenotype Cell or Molecular Dysfunction 21 0.100 None 0
CUI: C0454596
Disease: Dysarthria, Spastic
Dysarthria, Spastic 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 30 1 0.100 None 0
CUI: C0085632
Disease: Apathy
Apathy 		phenotype Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 83 9 0.100 None 0 1
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 955 164 0.100 None 0
CUI: C0233565
Disease: Bradykinesia
Bradykinesia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 133 16 0.100 None 0
CUI: C1857287
Disease: Stroke-like episode
Stroke-like episode 		phenotype Nervous System Diseases; Cardiovascular Diseases Finding 27 3 0.100 None 0
CUI: C0233844
Disease: Clumsiness
Clumsiness 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders Sign or Symptom 48 3 0.100 None 0
CUI: C0234146
Disease: Absent reflex
Absent reflex 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 201 16 0.100 None 0
CUI: C0234162
Disease: Cerebellar Dysmetria
Cerebellar Dysmetria 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 127 17 0.100 None 0
CUI: C0236000
Disease: Jaw pain
Jaw pain 		phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Stomatognathic Diseases Sign or Symptom 6 1 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: 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: C1847609
Disease: Deficit in phonologic short-term memory
Deficit in phonologic short-term memory 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms Finding 5 0.100 None 0
CUI: C0262630
Disease: Reduced concentration span
Reduced concentration span 		phenotype Behavior and Behavior Mechanisms Finding 77 2 0.100 None 0
CUI: C1855568
Disease: Jerky head movements
Jerky head movements 		phenotype Finding 10 0.100 None 0
CUI: C1850496
Disease: Neuronal loss in central nervous system
Neuronal loss in central nervous system 		phenotype Finding 37 0.100 None 0
CUI: C1852470
Disease: Extrapyramidal muscular rigidity
Extrapyramidal muscular rigidity 		phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Finding 11 0.100 None 0