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: C2677567
Disease: DYSTONIA 16 (disorder)
DYSTONIA 16 (disorder) 		disease Nervous System Diseases Disease or Syndrome 6 2 0.010 None 1.000 1 2017 2017
CUI: C4021957
Disease: Recurrent cutaneous abscess formation
Recurrent cutaneous abscess formation 		phenotype Finding 6 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: C1858680
Disease: Familial encephalopathy with neuroserpin inclusion bodies
Familial encephalopathy with neuroserpin inclusion bodies 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 7 4 0.010 None 1.000 1 2002 2002
CUI: C1959620
Disease: Dihydropyrimidine Dehydrogenase Deficiency
Dihydropyrimidine Dehydrogenase Deficiency 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 7 62 0.010 None 1.000 1 2011 2011
CUI: C0234509
Disease: Finger Agnosia
Finger Agnosia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms Finding 7 0.100 None 0
CUI: C0424304
Disease: Inappropriate laughter
Inappropriate laughter 		phenotype Finding 7 2 0.100 None 0
CUI: C0234502
Disease: Visual Agnosia
Visual Agnosia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms Sign or Symptom 8 0.110 None 1.000 1 2013 2013
CUI: C0003113
Disease: Anomia
Anomia 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Mental or Behavioral Dysfunction 8 0.100 None 0
CUI: C1853934
Disease: Deposits immunoreactive to beta-amyloid protein
Deposits immunoreactive to beta-amyloid protein 		phenotype Finding 8 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: C0349081
Disease: Dementia in Parkinson's disease
Dementia in Parkinson's disease 		disease Disease or Syndrome 9 2 0.010 None 1.000 1 2018 2018
CUI: C2931784
Disease: Amyloid angiopathy
Amyloid angiopathy 		disease Nutritional and Metabolic Diseases; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 9 3 0.010 None 1.000 1 1998 1998
CUI: C2936791
Disease: Antley-Bixler Syndrome, Autosomal Dominant
Antley-Bixler Syndrome, Autosomal Dominant 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases Disease or Syndrome 9 13 0.010 None 1.000 1 2008 2008
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: C0919974
Disease: Abulia
Abulia 		disease Mental or Behavioral Dysfunction 9 0.100 None 0
CUI: C0270707
Disease: Kluver-Bucy Syndrome
Kluver-Bucy Syndrome 		disease Nervous System Diseases; Mental Disorders Mental or Behavioral Dysfunction 10 0.010 None 1.000 1 2002 2002
CUI: C0338457
Disease: Aphasia, Progressive
Aphasia, Progressive 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Mental or Behavioral Dysfunction 10 2 0.010 None 1.000 1 1994 1994
CUI: C1836843
Disease: Progressive inability to walk
Progressive inability to walk 		phenotype Finding 10 3 0.100 None 1.000 1 1 2014 2014
CUI: C1867773
Disease: CEREBRAL AMYLOID ANGIOPATHY, ITM2B-RELATED, 1
CEREBRAL AMYLOID ANGIOPATHY, ITM2B-RELATED, 1 		disease Disease or Syndrome 10 1 0.010 None 1.000 1 2002 2002
CUI: C1838320
Disease: Hyperorality
Hyperorality 		phenotype Behavior and Behavior Mechanisms Finding 10 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: 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: C0015702
Disease: Favism
Favism 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Chemically-Induced Disorders; Hemic and Lymphatic Diseases Disease or Syndrome 11 14 0.010 None 1.000 1 2002 2002
CUI: C0262376
Disease: anxiety generalized
anxiety generalized 		disease Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 11 0.010 None 1.000 1 2013 2013