PSEN1, presenilin 1, 5663

N. diseases: 369; N. variants: 155
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: C4553765
Disease: Memory Impairment, CTCAE 5.0
Memory Impairment, CTCAE 5.0 		phenotype Finding 108 0.100 None 0
CUI: C2700617
Disease: Irritation - emotion
Irritation - emotion 		phenotype Behavior and Behavior Mechanisms Mental Process 147 14 0.100 None 0
CUI: C4552855
Disease: Agitation, CTCAE 5.0
Agitation, CTCAE 5.0 		phenotype Finding 87 0.100 None 0
CUI: C0002018
Disease: Alexia
Alexia 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders Mental or Behavioral Dysfunction 9 0.100 None 0
CUI: C4552810
Disease: Irritability, CTCAE
Irritability, CTCAE 		phenotype Finding 140 0.100 None 0
CUI: C4551915
Disease: Gait Disturbance, CTCAE
Gait Disturbance, CTCAE 		phenotype Finding 299 0.100 None 0
CUI: C0003550
Disease: Broca Aphasia
Broca Aphasia 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Mental or Behavioral Dysfunction 11 0.100 None 0
CUI: C0003537
Disease: Aphasia
Aphasia 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Mental or Behavioral Dysfunction 86 3 0.100 None 0
CUI: C4072928
Disease: Spoken Word Recognition Deficit
Spoken Word Recognition Deficit 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Mental or Behavioral Dysfunction 8 0.100 None 0
CUI: C0003113
Disease: Anomia
Anomia 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Mental or Behavioral Dysfunction 8 0.100 None 0
CUI: C4025846
Disease: Abnormality of vision
Abnormality of vision 		disease Finding 127 8 0.100 None 0
CUI: C0338462
Disease: Semantic Dementia
Semantic Dementia 		disease Nutritional and Metabolic Diseases; Nervous System Diseases; Mental Disorders Mental or Behavioral Dysfunction 20 4 0.600 None 1.000 1 2000 2000
CUI: C0340427
Disease: Familial dilated cardiomyopathy
Familial dilated cardiomyopathy 		disease Cardiovascular Diseases Disease or Syndrome 83 47 0.300 None 1.000 1 2006 2006
CUI: C0751262
Disease: Adult Learning Disorders
Adult Learning Disorders 		group Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders Mental or Behavioral Dysfunction 29 0.300 None 1.000 1 2014 2014
CUI: C1330966
Disease: Developmental Academic Disorder
Developmental Academic Disorder 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders Finding 29 0.300 None 1.000 1 2014 2014
CUI: C0033141
Disease: Cardiomyopathies, Primary
Cardiomyopathies, Primary 		group Cardiovascular Diseases Disease or Syndrome 108 1 0.300 None 1.000 1 2018 2018
CUI: C0004045
Disease: Asphyxia Neonatorum
Asphyxia Neonatorum 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome 45 5 0.300 None 1.000 1 2008 2008
CUI: C0270715
Disease: Degenerative Diseases, Central Nervous System
Degenerative Diseases, Central Nervous System 		group Nervous System Diseases Disease or Syndrome 43 0.300 None 1.000 1 2013 2013
CUI: C0751263
Disease: Learning Disturbance
Learning Disturbance 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders Mental or Behavioral Dysfunction 29 0.300 None 1.000 1 2014 2014
CUI: C0036529
Disease: Myocardial Diseases, Secondary
Myocardial Diseases, Secondary 		group Cardiovascular Diseases Disease or Syndrome 101 0.300 None 1.000 1 2018 2018
CUI: C0751733
Disease: Degenerative Diseases, Spinal Cord
Degenerative Diseases, Spinal Cord 		group Nervous System Diseases Disease or Syndrome 40 0.300 None 1.000 1 2013 2013
CUI: C0038002
Disease: Splenomegaly
Splenomegaly 		phenotype Pathological Conditions, Signs and Symptoms Finding 345 19 0.300 None 1.000 1 2016 2016
CUI: C0751706
Disease: Primary Progressive Nonfluent Aphasia
Primary Progressive Nonfluent Aphasia 		disease Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Nervous System Diseases; Mental Disorders Mental or Behavioral Dysfunction 21 13 0.300 None 1.000 1 2004 2004
CUI: C0027746
Disease: Nerve Degeneration
Nerve Degeneration 		phenotype Pathological Conditions, Signs and Symptoms Cell or Molecular Dysfunction 165 17 0.300 None 1.000 1 2009 2009
CUI: C4011788
Disease: Behavioral variant of frontotemporal dementia
Behavioral variant of frontotemporal dementia 		disease Nutritional and Metabolic Diseases; Nervous System Diseases; Mental Disorders Disease or Syndrome 35 10 0.300 None 1.000 1 2000 2000