APP, amyloid beta precursor protein, 351

N. diseases: 485; N. variants: 114
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: C0333463
Disease: Senile Plaques
Senile Plaques
disease Pathological Conditions, Signs and Symptoms Acquired Abnormality 249 21 0.400 None 0.988 164 5 1988 2020
CUI: C2936349
Disease: Plaque, Amyloid
Plaque, Amyloid
disease Pathological Conditions, Signs and Symptoms Acquired Abnormality 123 10 0.400 None 0.973 37 2 1996 2019
CUI: C0521175
Disease: Neuropil Threads
Neuropil Threads
disease Acquired Abnormality 13 0.020 None 1.000 2 2001 2019
CUI: C0080233
Disease: Tooth Loss
Tooth Loss
disease Stomatognathic Diseases Acquired Abnormality 49 8 0.010 None 1.000 1 2013 2013
CUI: C0333227
Disease: Microembolus
Microembolus
disease Cardiovascular Diseases Acquired Abnormality 7 0.010 None 1.000 1 2014 2014
CUI: C0740391
Disease: Middle Cerebral Artery Occlusion
Middle Cerebral Artery Occlusion
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Cardiovascular Diseases Acquired Abnormality 626 0.010 None 1.000 1 2007 2007
CUI: C0751633
Disease: Carotid Artery Plaque
Carotid Artery Plaque
disease Nervous System Diseases; Cardiovascular Diseases Acquired Abnormality 41 3 0.010 None 1.000 1 2002 2002
CUI: C1262048
Disease: Glial scar
Glial scar
phenotype Acquired Abnormality 51 0.010 None 1.000 1 2019 2019
CUI: C4020732
Disease: Mitochondrial abnormalities
Mitochondrial abnormalities
disease Anatomical Abnormality 83 20 0.010 None 1.000 1 2019 2019
CUI: C0027746
Disease: Nerve Degeneration
Nerve Degeneration
phenotype Pathological Conditions, Signs and Symptoms Cell or Molecular Dysfunction 165 17 0.300 None 1.000 11 2002 2013
Neurofibrillary degeneration (morphologic abnormality)
phenotype Cell or Molecular Dysfunction 21 0.100 None 0
CUI: C0018818
Disease: Ventricular Septal Defects
Ventricular Septal Defects
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality 426 87 0.010 None 1.000 1 2017 2017
CUI: C0026499
Disease: Monosomy
Monosomy
group Pathological Conditions, Signs and Symptoms Congenital Abnormality 214 11 0.010 None 1.000 1 2011 2011
CUI: C0037221
Disease: Situs Inversus
Situs Inversus
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 138 6 0.010 None 1.000 1 2002 2002
Hereditary cerebrovascular amyloidosis
disease Congenital Abnormality 1 0.010 None 1.000 1 2009 2009
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
disease Nervous System Diseases; Mental Disorders Disease or Syndrome 3397 1843 0.900 None 0.981 2575 61 1987 2020
CUI: C0276496
Disease: Familial Alzheimer Disease (FAD)
Familial Alzheimer Disease (FAD)
disease Nervous System Diseases; Mental Disorders Disease or Syndrome 260 95 0.400 None 0.993 275 29 1988 2019
CUI: C0002726
Disease: Amyloidosis
Amyloidosis
disease Nutritional and Metabolic Diseases Disease or Syndrome 694 93 0.400 None 0.981 270 8 1988 2019
CUI: C0750901
Disease: Alzheimer Disease, Early Onset
Alzheimer Disease, Early Onset
disease Nervous System Diseases; Mental Disorders Disease or Syndrome 174 96 0.500 None 0.984 125 21 1991 2020
CUI: C0013080
Disease: Down Syndrome
Down Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 766 80 0.100 None 0.984 123 1 1988 2020
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 0.100 None 0.982 109 1 1988 2020
Familial Alzheimer's disease of early onset
disease Nervous System Diseases; Mental Disorders Disease or Syndrome 14 33 0.100 None 1.000 49 12 1991 2019
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH)
disease Disease or Syndrome 1075 276 0.100 None 1.000 47 6 1992 2018
CUI: C0524851
Disease: Neurodegenerative Disorders
Neurodegenerative Disorders
group Nervous System Diseases Disease or Syndrome 1515 85 0.400 None 0.935 46 1994 2019
CUI: C0085220
Disease: Cerebral Amyloid Angiopathy
Cerebral Amyloid Angiopathy
disease Nutritional and Metabolic Diseases; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 65 22 0.500 None 1.000 45 7 1992 2019