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: C0020580
Disease: Hypesthesia
Hypesthesia
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 33 6 0.100 None 0
CUI: C1963060
Disease: Agitation, CTCAE 3.0
Agitation, CTCAE 3.0
phenotype Finding 87 0.100 None 0
CUI: C3489733
Disease: Oculomotor apraxia
Oculomotor apraxia
disease Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases; Behavior and Behavior Mechanisms; Cardiovascular Diseases Disease or Syndrome 92 14 0.100 None 0
CUI: C4552855
Disease: Agitation, CTCAE 5.0
Agitation, CTCAE 5.0
phenotype Finding 87 0.100 None 0
CUI: C4553765
Disease: Memory Impairment, CTCAE 5.0
Memory Impairment, CTCAE 5.0
phenotype Finding 108 0.100 None 0
CUI: C4022012
Disease: Death in early adulthood
Death in early adulthood
phenotype Finding 46 2 0.100 None 0
CUI: C4025846
Disease: Abnormality of vision
Abnormality of vision
disease Finding 127 8 0.100 None 0
CUI: C4551915
Disease: Gait Disturbance, CTCAE
Gait Disturbance, CTCAE
phenotype Finding 299 0.100 None 0
CUI: C4703620
Disease: Decreased level of GABA in serum
Decreased level of GABA in serum
phenotype Finding 6 0.100 None 0
CUI: C4021087
Disease: Abnormal social behavior
Abnormal social behavior
phenotype Behavior and Behavior Mechanisms Finding 19 0.100 None 0
CUI: C4551583
Disease: Cerebral cortical atrophy
Cerebral cortical atrophy
disease Disease or Syndrome 271 13 0.100 None 0
Deposits immunoreactive to beta-amyloid protein
phenotype Finding 8 0.100 None 0
CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED, PIEDMONT VARIANT
phenotype Finding 1 1 0.100 None 0 1
CUI: C0004134
Disease: Ataxia
Ataxia
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 868 68 0.100 None 0
CUI: C2931257
Disease: Alzheimer disease type 1
Alzheimer disease type 1
disease Nervous System Diseases; Mental Disorders Disease or Syndrome 3 10 0.100 None 0 10
Gerstmann-Straussler-Scheinker Disease
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Infections; Nervous System Diseases Disease or Syndrome 56 39 0.010 None 1.000 1 1991 1991
CUI: C0022336
Disease: Creutzfeldt-Jakob disease
Creutzfeldt-Jakob disease
disease Infections; Nervous System Diseases; Mental Disorders Disease or Syndrome 137 52 0.020 None 1.000 2 1991 1993
CUI: C0011263
Disease: Multi-infarct dementia
Multi-infarct dementia
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Cardiovascular Diseases Disease or Syndrome 30 0.010 None 1.000 1 1993 1993
CUI: C0206664
Disease: Teratocarcinoma
Teratocarcinoma
disease Neoplasms Neoplastic Process 141 1 0.010 None 1.000 1 1993 1993
CUI: C1411876
Disease: Developmental arithmetic disorder
Developmental arithmetic disorder
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders Mental or Behavioral Dysfunction 2 0.010 None 1.000 1 1993 1993
CUI: C0869474
Disease: Dyscalculia
Dyscalculia
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders Mental or Behavioral Dysfunction 20 0.010 None 1.000 1 1993 1993
CUI: C0032027
Disease: Pityriasis Rubra Pilaris
Pityriasis Rubra Pilaris
disease Skin and Connective Tissue Diseases Disease or Syndrome 32 2 0.010 None 1.000 1 1993 1993
CUI: C0011268
Disease: Senile dementia
Senile dementia
disease Nervous System Diseases; Mental Disorders Mental or Behavioral Dysfunction 21 0.010 None 1.000 1 1993 1993
CUI: C0795875
Disease: Chromosome 21 monosomy
Chromosome 21 monosomy
disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 13 0.010 None 1.000 1 1995 1995
CUI: C0338657
Disease: Age-associated memory impairment
Age-associated memory impairment
disease Disease or Syndrome 9 0.010 None 1.000 1 1997 1997