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: 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: 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: 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: 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: 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: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 441 120 0.100 None 0.933 15 5 1991 2017
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: C0497327
Disease: Dementia
Dementia 		disease Nervous System Diseases; Mental Disorders Mental or Behavioral Dysfunction 816 176 0.500 strong 0.958 48 4 1991 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: C0004134
Disease: Ataxia
Ataxia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 868 68 0.200 None 1.000 14 4 1991 2017
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: 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: C0011265
Disease: Presenile dementia
Presenile dementia 		disease Nervous System Diseases; Mental Disorders Mental or Behavioral Dysfunction 718 159 0.400 None 0.951 41 3 1990 2019
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		disease Disease or Syndrome 1075 276 0.100 None 1.000 19 3 1989 2015
CUI: C4086165
Disease: Childhood Neuroblastoma
Childhood Neuroblastoma 		disease Neoplasms Neoplastic Process 2420 231 0.100 None 1.000 17 3 1999 2017
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma 		disease Neoplasms; Nervous System Diseases Neoplastic Process 2419 231 0.100 None 1.000 17 3 1999 2017
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma 		disease Neoplasms Neoplastic Process 2509 386 0.100 None 1.000 17 3 1999 2017
CUI: C0338451
Disease: Frontotemporal dementia
Frontotemporal dementia 		disease Nutritional and Metabolic Diseases; Nervous System Diseases; Mental Disorders Disease or Syndrome 320 215 0.090 None 0.778 9 3 2011 2018
CUI: C0027765
Disease: nervous system disorder
nervous system disorder 		group Nervous System Diseases Disease or Syndrome 977 39 0.090 None 1.000 9 3 1991 2019
CUI: C0917801
Disease: Sleeplessness
Sleeplessness 		phenotype Nervous System Diseases; Mental Disorders Sign or Symptom 174 30 0.140 None 1.000 4 3 1996 2010
CUI: C1847650
Disease: SPONGIFORM ENCEPHALOPATHY WITH NEUROPSYCHIATRIC FEATURES
SPONGIFORM ENCEPHALOPATHY WITH NEUROPSYCHIATRIC FEATURES 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Infections; Nervous System Diseases; Mental Disorders Disease or Syndrome 1 3 0.600 None 1.000 2 3 1997 2000
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