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: C2936349
Disease: Plaque, Amyloid
Plaque, Amyloid 		disease Pathological Conditions, Signs and Symptoms Acquired Abnormality 123 10 0.100 None 0.818 11 1 1991 2020
CUI: C0333463
Disease: Senile Plaques
Senile Plaques 		disease Pathological Conditions, Signs and Symptoms Acquired Abnormality 249 21 0.200 None 0.900 10 1 1991 2020
CUI: C0302142
Disease: Deformity
Deformity 		group Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities Anatomical Abnormality 350 26 0.010 None 1.000 1 2013 2013
CUI: C0333157
Disease: Colloid Cysts
Colloid Cysts 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases Anatomical Abnormality 1 0.010 None 1.000 1 2009 2009
CUI: C4025659
Disease: Abnormality of the shoulder
Abnormality of the shoulder 		disease Anatomical Abnormality 8 0.100 None 0
CUI: C4520981
Disease: Abnormality of the basal ganglia
Abnormality of the basal ganglia 		phenotype Anatomical Abnormality 17 3 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: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 1098 73 0.030 None 1.000 3 2004 2013
CUI: C0162534
Disease: Prion Diseases
Prion Diseases 		group Infections; Nervous System Diseases Disease or Syndrome 175 67 0.500 None 0.976 666 35 1988 2020
CUI: C0022336
Disease: Creutzfeldt-Jakob disease
Creutzfeldt-Jakob disease 		disease Infections; Nervous System Diseases; Mental Disorders Disease or Syndrome 137 52 1.000 strong 0.980 346 23 1988 2020
CUI: C0017495
Disease: Gerstmann-Straussler-Scheinker Disease
Gerstmann-Straussler-Scheinker Disease 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Infections; Nervous System Diseases Disease or Syndrome 56 39 1.000 None 0.993 138 21 1989 2019
CUI: C0524851
Disease: Neurodegenerative Disorders
Neurodegenerative Disorders 		group Nervous System Diseases Disease or Syndrome 1515 85 0.100 None 0.967 120 4 1991 2020
CUI: C1852467
Disease: Creutzfeldt-Jakob Disease, Sporadic
Creutzfeldt-Jakob Disease, Sporadic 		disease Infections; Nervous System Diseases; Mental Disorders Disease or Syndrome 57 23 0.400 None 0.965 114 11 1991 2020
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		disease Nervous System Diseases; Mental Disorders Disease or Syndrome 3397 1843 0.400 None 0.902 102 3 1986 2020
CUI: C0206042
Disease: Fatal Familial Insomnia
Fatal Familial Insomnia 		disease Infections; Nervous System Diseases Disease or Syndrome 25 16 1.000 None 0.989 92 6 1992 2019
CUI: C2900450
Disease: Other Creutzfeldt-Jakob disease
Other Creutzfeldt-Jakob disease 		disease Infections; Nervous System Diseases; Mental Disorders Disease or Syndrome 37 18 0.100 None 0.949 59 11 1991 2020
CUI: C0751254
Disease: Creutzfeldt-Jakob Disease, Familial
Creutzfeldt-Jakob Disease, Familial 		disease Infections; Nervous System Diseases; Mental Disorders Disease or Syndrome 22 16 0.600 None 1.000 56 10 1990 2019
CUI: C0376329
Disease: New Variant Creutzfeldt-Jakob Disease
New Variant Creutzfeldt-Jakob Disease 		disease Infections; Nervous System Diseases; Mental Disorders Disease or Syndrome 23 2 0.600 None 0.981 54 2 1998 2019
CUI: C4310512
Disease: Sporadic CJD
Sporadic CJD 		disease Infections; Nervous System Diseases; Mental Disorders; Animal Diseases Disease or Syndrome 30 17 0.100 None 0.913 46 7 1994 2020
CUI: C0002726
Disease: Amyloidosis
Amyloidosis 		disease Nutritional and Metabolic Diseases Disease or Syndrome 694 93 0.100 None 0.941 34 1 1993 2019
CUI: C1864112
Disease: HUNTINGTON DISEASE-LIKE 1
HUNTINGTON DISEASE-LIKE 1 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders Disease or Syndrome 1 4 0.700 strong 1.000 33 4 1989 2016
CUI: C4281802
Disease: Spongiform encephalopathy
Spongiform encephalopathy 		disease Infections; Nervous System Diseases Disease or Syndrome 14 2 0.100 None 0.970 33 2 1988 2018
CUI: C4700085
Disease: Chronic wasting disease (CWD)
Chronic wasting disease (CWD) 		disease Disease or Syndrome 5 0.100 None 1.000 27 2000 2019
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		group Nervous System Diseases Disease or Syndrome 362 247 0.100 None 1.000 20 1 1993 2018