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: C0034935
Disease: Babinski Reflex
Babinski Reflex 		phenotype Finding 218 11 0.100 None 0
CUI: C0151889
Disease: Hyperreflexia
Hyperreflexia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 539 19 0.100 None 0
CUI: C4023470
Disease: EEG with continuous slow activity
EEG with continuous slow activity 		phenotype Finding 10 1 0.100 None 0
CUI: C4025846
Disease: Abnormality of vision
Abnormality of vision 		disease Finding 127 8 0.100 None 0
CUI: C4015781
Disease: ALZHEIMER DISEASE, FAMILIAL, 3, WITH UNUSUAL PLAQUES
ALZHEIMER DISEASE, FAMILIAL, 3, WITH UNUSUAL PLAQUES 		disease Finding 1 2 0.100 None 0 2
CUI: C3887640
Disease: Astrocytosis
Astrocytosis 		phenotype Pathological Conditions, Signs and Symptoms Pathologic Function 37 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: C3887612
Disease: Psychomotor Agitation
Psychomotor Agitation 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms Finding 26 0.100 None 0
CUI: C4551915
Disease: Gait Disturbance, CTCAE
Gait Disturbance, CTCAE 		phenotype Finding 299 0.100 None 0
CUI: C4015780
Disease: ALZHEIMER DISEASE, FAMILIAL, WITH SPASTIC PARAPARESIS AND UNUSUAL PLAQUES
ALZHEIMER DISEASE, FAMILIAL, WITH SPASTIC PARAPARESIS AND UNUSUAL PLAQUES 		disease Finding 1 2 0.100 None 0 2
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		group Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 2165 159 0.100 None 0
CUI: C4021799
Disease: Restrictive behavior
Restrictive behavior 		phenotype Mental or Behavioral Dysfunction 13 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: C4023521
Disease: Chronic furunculosis
Chronic furunculosis 		disease Disease or Syndrome 4 0.100 None 0
CUI: C4022798
Disease: Abnormal brain FDG positron emission tomography
Abnormal brain FDG positron emission tomography 		disease Anatomical Abnormality 18 0.100 None 0
CUI: C4021957
Disease: Recurrent cutaneous abscess formation
Recurrent cutaneous abscess formation 		phenotype Finding 6 0.100 None 0
CUI: C4024936
Disease: Temporal cortical atrophy
Temporal cortical atrophy 		disease Disease or Syndrome 13 2 0.100 None 0
CUI: C4021584
Disease: Frontotemporal cerebral atrophy
Frontotemporal cerebral atrophy 		disease Disease or Syndrome 14 1 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: 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: C4024956
Disease: Grammar-specific speech disorder
Grammar-specific speech disorder 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 10 1 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: C0003113
Disease: Anomia
Anomia 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Mental or Behavioral Dysfunction 8 0.100 None 0
CUI: C1963167
Disease: Memory Impairment, CTCAE 3.0
Memory Impairment, CTCAE 3.0 		phenotype Finding 109 2 0.100 None 0
CUI: C4553765
Disease: Memory Impairment, CTCAE 5.0
Memory Impairment, CTCAE 5.0 		phenotype Finding 108 0.100 None 0