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: C4022798
Disease: Abnormal brain FDG positron emission tomography
Abnormal brain FDG positron emission tomography 		disease Anatomical Abnormality 18 0.100 None 0
CUI: C1845274
Disease: Abnormal conjugate eye movement
Abnormal conjugate eye movement 		phenotype Finding 7 5 0.100 None 1.000 1 1 2014 2014
CUI: C1865412
Disease: Abnormal lower motor neuron morphology
Abnormal lower motor neuron morphology 		phenotype Finding 23 0.100 None 0
CUI: C0231471
Disease: Abnormal posture
Abnormal posture 		phenotype Nervous System Diseases Finding 13 7 0.100 None 1.000 1 1 2014 2014
CUI: C4021087
Disease: Abnormal social behavior
Abnormal social behavior 		phenotype Behavior and Behavior Mechanisms Finding 19 0.100 None 0
CUI: C1866129
Disease: Abnormality of the cerebellum
Abnormality of the cerebellum 		group Nervous System Diseases Finding 55 11 0.100 None 1.000 1 1 2014 2014
CUI: C1846460
Disease: Abnormality of the outer ear
Abnormality of the outer ear 		disease Anatomical Abnormality 95 8 0.100 None 1.000 1 1 2014 2014
CUI: C4025846
Disease: Abnormality of vision
Abnormality of vision 		disease Finding 127 8 0.100 None 0
CUI: C0919974
Disease: Abulia
Abulia 		disease Mental or Behavioral Dysfunction 9 0.100 None 0
CUI: C3151038
Disease: ACNE INVERSA, FAMILIAL, 3
ACNE INVERSA, FAMILIAL, 3 		disease Disease or Syndrome 1 15 0.400 None 1.000 62 15 1995 2018
CUI: C0546126
Disease: Acute Confusional Senile Dementia
Acute Confusional Senile Dementia 		disease Nervous System Diseases; Mental Disorders Mental or Behavioral Dysfunction 99 0.300 None 1.000 13 1995 2017
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma 		group Neoplasms Neoplastic Process 2235 168 0.010 None 1.000 1 1994 1994
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: C0022797
Disease: Adult Neuronal Ceroid Lipofuscinosis
Adult Neuronal Ceroid Lipofuscinosis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 16 9 0.020 None 1.000 2 1 2011 2014
CUI: C0751292
Disease: Age-Related Memory Disorders
Age-Related Memory Disorders 		group Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 43 0.300 None 1.000 2 2014 2017
CUI: C0001807
Disease: Aggressive behavior
Aggressive behavior 		phenotype Behavior and Behavior Mechanisms Individual Behavior 176 22 0.100 None 0
CUI: C0085631
Disease: Agitation
Agitation 		phenotype Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Sign or Symptom 109 4 0.100 None 0
CUI: C1963060
Disease: Agitation, CTCAE 3.0
Agitation, CTCAE 3.0 		phenotype Finding 87 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: C1863051
Disease: ALZHEIMER DISEASE 2
ALZHEIMER DISEASE 2 		disease Nervous System Diseases; Mental Disorders Disease or Syndrome 16 2 0.030 None 1.000 3 1 1997 2010
CUI: C0750901
Disease: Alzheimer Disease, Early Onset
Alzheimer Disease, Early Onset 		disease Nervous System Diseases; Mental Disorders Disease or Syndrome 174 96 0.400 None 0.958 165 50 1995 2020
CUI: C4015782
Disease: ALZHEIMER DISEASE, FAMILIAL, 3, WITH SPASTIC PARAPARESIS
ALZHEIMER DISEASE, FAMILIAL, 3, WITH SPASTIC PARAPARESIS 		disease Finding 1 1 0.100 None 0 1
CUI: C1843015
Disease: Alzheimer Disease, Familial, 3, with Spastic Paraparesis and Apraxia
Alzheimer Disease, Familial, 3, with Spastic Paraparesis and Apraxia 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Disease or Syndrome 1 2 0.600 None 1.000 4 2 1997 2006
CUI: C1843014
Disease: Alzheimer Disease, Familial, 3, with Spastic Paraparesis and Unusual Plaques
Alzheimer Disease, Familial, 3, with Spastic Paraparesis and Unusual Plaques 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders Disease or Syndrome 1 0.200 None 1.000 4 1997 2006