BACE1, beta-secretase 1, 23621

N. diseases: 120; N. variants: 8
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: C0240059
Disease: Ventricular hemorrhage
Ventricular hemorrhage 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Cardiovascular Diseases Pathologic Function 2 0.200 None 1.000 1 2018 2018
CUI: C0154319
Disease: Other specified senile psychotic conditions
Other specified senile psychotic conditions 		disease Nervous System Diseases; Mental Disorders Mental or Behavioral Dysfunction 6 0.200 None 1.000 1 2017 2017
CUI: C0877104
Disease: Retinal toxicity
Retinal toxicity 		disease Anatomical Abnormality 12 0.010 None 1.000 1 2017 2017
CUI: C0019911
Disease: Hookworm Infections
Hookworm Infections 		group Infections Disease or Syndrome 13 0.020 None 1.000 2 2005 2008
CUI: C1096584
Disease: Chlamydia pneumoniae Infections
Chlamydia pneumoniae Infections 		disease Infections Disease or Syndrome 13 0.010 None 1.000 1 2019 2019
CUI: C3805054
Disease: Prodromal Alzheimer's disease
Prodromal Alzheimer's disease 		disease Mental or Behavioral Dysfunction 13 2 0.010 None 1.000 1 2017 2017
CUI: C0037316
Disease: Sleep Deprivation
Sleep Deprivation 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders Finding 14 0.200 None 1.000 1 2017 2017
CUI: C0154671
Disease: Degenerative brain disorder
Degenerative brain disorder 		group Nervous System Diseases Disease or Syndrome 16 0.010 None 1.000 1 2019 2019
CUI: C0699739
Disease: Sensory Neuropathy, Hereditary
Sensory Neuropathy, Hereditary 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 19 2 0.200 None 1.000 1 2017 2017
CUI: C1839735
Disease: MILES-CARPENTER X-LINKED MENTAL RETARDATION SYNDROME
MILES-CARPENTER X-LINKED MENTAL RETARDATION SYNDROME 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 21 2 0.010 None 1.000 1 2020 2020
CUI: C0036221
Disease: Mast-Cell Sarcoma
Mast-Cell Sarcoma 		disease Neoplasms Neoplastic Process 27 4 0.010 None 1.000 1 2020 2020
CUI: C0043395
Disease: Yellow Fever
Yellow Fever 		disease Infections Disease or Syndrome 28 0.010 None 1.000 1 2011 2011
CUI: C1846707
Disease: SPINOCEREBELLAR ATAXIA 17
SPINOCEREBELLAR ATAXIA 17 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 28 0.010 None 1.000 1 2012 2012
CUI: C0746556
Disease: metabolic disturbance
metabolic disturbance 		disease Disease or Syndrome 29 4 0.010 None 1.000 1 2016 2016
CUI: C4310512
Disease: Sporadic CJD
Sporadic CJD 		disease Infections; Nervous System Diseases; Mental Disorders; Animal Diseases Disease or Syndrome 30 17 0.010 None 1.000 1 1 2012 2012
CUI: C0740304
Disease: COPD exacerbation
COPD exacerbation 		disease Disease or Syndrome 33 2 0.010 None 1.000 1 2019 2019
CUI: C3665464
Disease: Dementia due to Alzheimer's disease (disorder)
Dementia due to Alzheimer's disease (disorder) 		disease Nervous System Diseases; Mental Disorders Mental or Behavioral Dysfunction 35 1 0.010 None 1.000 1 2018 2018
CUI: C2900450
Disease: Other Creutzfeldt-Jakob disease
Other Creutzfeldt-Jakob disease 		disease Infections; Nervous System Diseases; Mental Disorders Disease or Syndrome 37 18 0.010 None 1.000 1 1 2012 2012
CUI: C1168443
Disease: Pseudocholinesterase Measurement
Pseudocholinesterase Measurement 		phenotype Laboratory Procedure 39 568 0.100 None 1.000 1 1 2011 2011
CUI: C1695782
Disease: Cerebral hypoperfusion
Cerebral hypoperfusion 		disease Disease or Syndrome 40 1 0.010 None 1.000 1 2017 2017
CUI: C0042961
Disease: Intestinal Volvulus
Intestinal Volvulus 		disease Pathological Conditions, Signs and Symptoms; Digestive System Diseases Disease or Syndrome 42 2 0.010 None 1.000 1 2012 2012
CUI: C0004030
Disease: Aspergillosis
Aspergillosis 		disease Infections Disease or Syndrome 47 2 0.010 None 1.000 1 2019 2019
CUI: C1096903
Disease: Sialic Acid Storage Disease, Finnish Type (disorder)
Sialic Acid Storage Disease, Finnish Type (disorder) 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 47 44 0.010 None 1.000 1 2017 2017
CUI: C1876214
Disease: ALBINOIDISM, OCULOCUTANEOUS, AUTOSOMAL DOMINANT
ALBINOIDISM, OCULOCUTANEOUS, AUTOSOMAL DOMINANT 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 54 6 0.010 None 1.000 1 2018 2018
CUI: C1860787
Disease: DOWN SYNDROME CRITICAL REGION
DOWN SYNDROME CRITICAL REGION 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 57 0.020 None 1.000 2 2005 2010