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: C1168443
Disease: Pseudocholinesterase Measurement
Pseudocholinesterase Measurement
phenotype Laboratory Procedure 39 568 0.100 None 1.000 1 1 2011 2011
Red cell distribution width determination
phenotype Laboratory Procedure 593 988 0.100 None 1.000 1 1 2019 2019
CUI: C2936349
Disease: Plaque, Amyloid
Plaque, Amyloid
disease Pathological Conditions, Signs and Symptoms Acquired Abnormality 123 10 0.090 None 1.000 9 2007 2019
CUI: C0009241
Disease: Cognition Disorders
Cognition Disorders
group Mental Disorders Mental or Behavioral Dysfunction 607 47 0.090 None 1.000 9 2010 2019
CUI: C0524851
Disease: Neurodegenerative Disorders
Neurodegenerative Disorders
group Nervous System Diseases Disease or Syndrome 1515 85 0.080 None 1.000 8 2014 2019
CUI: C0234985
Disease: Mental deterioration
Mental deterioration
phenotype Mental Disorders Mental or Behavioral Dysfunction 508 121 0.070 None 0.857 7 2006 2020
CUI: C1270972
Disease: Mild cognitive disorder
Mild cognitive disorder
disease Mental Disorders Mental or Behavioral Dysfunction 430 96 0.070 None 1.000 7 2008 2018
CUI: C0013080
Disease: Down Syndrome
Down Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 766 80 0.070 None 1.000 7 2005 2018
CUI: C0542476
Disease: Forgetful
Forgetful
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Sign or Symptom 429 18 0.070 None 1.000 7 2010 2018
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 669 77 0.060 None 1.000 6 2005 2018
CUI: C1842937
Disease: AURAL ATRESIA, CONGENITAL
AURAL ATRESIA, CONGENITAL
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome 110 29 0.040 None 1.000 4 2007 2019
CUI: C0028754
Disease: Obesity
Obesity
disease Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases Disease or Syndrome 2821 1111 0.030 None 1.000 3 2016 2018
CUI: C0036572
Disease: Seizures
Seizures
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 2152 553 0.030 None 0.667 3 2016 2018
CUI: C1843013
Disease: Alzheimer disease, familial, type 3
Alzheimer disease, familial, type 3
disease Nervous System Diseases; Mental Disorders Disease or Syndrome 213 124 0.030 None 1.000 3 2010 2015
CUI: C0220756
Disease: Niemann-Pick Disease, Type C
Niemann-Pick Disease, Type C
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 201 33 0.020 None 1.000 2 2012 2018
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme
disease Neoplasms Neoplastic Process 3197 186 0.020 None 1.000 2 2012 2014
CUI: C0278878
Disease: Adult Glioblastoma
Adult Glioblastoma
disease Neoplasms Neoplastic Process 2528 98 0.020 None 1.000 2 2012 2014
CUI: C0751713
Disease: Inclusion Body Myopathy, Sporadic
Inclusion Body Myopathy, Sporadic
disease Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 84 5 0.020 None 1.000 2 2003 2010
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
CUI: C0280474
Disease: Childhood Glioblastoma
Childhood Glioblastoma
disease Neoplasms Neoplastic Process 2527 98 0.020 None 1.000 2 2012 2014
CUI: C0085220
Disease: Cerebral Amyloid Angiopathy
Cerebral Amyloid Angiopathy
disease Nutritional and Metabolic Diseases; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 65 22 0.020 None 1.000 2 2015 2016
CUI: C0014544
Disease: Epilepsy
Epilepsy
disease Nervous System Diseases Disease or Syndrome 1215 339 0.020 None 1.000 2 2013 2018
CUI: C0017636
Disease: Glioblastoma
Glioblastoma
disease Neoplasms Neoplastic Process 3177 281 0.020 None 1.000 2 2012 2014
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
disease Nervous System Diseases Disease or Syndrome 2078 990 0.020 None 1.000 2 2010 2015
CUI: C0019911
Disease: Hookworm Infections
Hookworm Infections
group Infections Disease or Syndrome 13 0.020 None 1.000 2 2005 2008