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: C2750915
Disease: Basal ganglia gliosis
Basal ganglia gliosis
phenotype Pathological Conditions, Signs and Symptoms Finding 10 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: C1853558
Disease: Jerky ocular pursuit movements
Jerky ocular pursuit movements
phenotype Finding 5 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: C1852476
Disease: Loss of facial expression
Loss of facial expression
phenotype Finding 2 0.100 None 0
CUI: C0740651
Disease: Abdominal symptom
Abdominal symptom
phenotype Sign or Symptom 17 3 0.100 None 0
CUI: C0028738
Disease: Nystagmus
Nystagmus
disease Eye Diseases; Nervous System Diseases Disease or Syndrome 833 95 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
Neuronal loss in central nervous system
phenotype Finding 37 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: C1838681
Disease: Rapidly progressive
Rapidly progressive
phenotype Finding 38 0.100 None 0
CUI: C0034935
Disease: Babinski Reflex
Babinski Reflex
phenotype Finding 218 11 0.100 None 0
CUI: C1837458
Disease: Impaired smooth pursuit
Impaired smooth pursuit
phenotype Finding 25 1 0.100 None 0
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: C1855568
Disease: Jerky head movements
Jerky head movements
phenotype Finding 10 0.100 None 0
CUI: C0085633
Disease: Mood swings
Mood swings
disease Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 171 1 0.100 None 0
CUI: C2700617
Disease: Irritation - emotion
Irritation - emotion
phenotype Behavior and Behavior Mechanisms Mental Process 147 14 0.100 None 0
CUI: C0520966
Disease: Abnormal coordination
Abnormal coordination
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 59 4 0.100 None 0
CUI: C0018524
Disease: Hallucinations
Hallucinations
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 178 18 0.100 None 0
CUI: C0018989
Disease: Hemiparesis
Hemiparesis
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 91 6 0.100 None 0
CUI: C1963184
Disease: Nystagmus, CTCAE 3.0
Nystagmus, CTCAE 3.0
phenotype Finding 779 0.100 None 0
CUI: C1963167
Disease: Memory Impairment, CTCAE 3.0
Memory Impairment, CTCAE 3.0
phenotype Finding 109 2 0.100 None 0
CUI: C1867864
Disease: Poor fine motor coordination
Poor fine motor coordination
phenotype Finding 31 3 0.100 None 0
CUI: C1866129
Disease: Abnormality of the cerebellum
Abnormality of the cerebellum
group Nervous System Diseases Finding 55 11 0.100 None 0