PSEN2, presenilin 2, 5664

N. diseases: 146; N. variants: 32
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: C3150958
Disease: Cardiomyopathy, Dilated, 1V
Cardiomyopathy, Dilated, 1V 		disease Cardiovascular Diseases Disease or Syndrome 1 1 0.700 None 1.000 1 1 2006 2006
CUI: C1847200
Disease: ALZHEIMER DISEASE 4
ALZHEIMER DISEASE 4 		disease Nervous System Diseases; Mental Disorders Disease or Syndrome 2 13 0.600 None 1.000 29 13 1995 2015
CUI: C3810041
Disease: ALZHEIMER DISEASE 18
ALZHEIMER DISEASE 18 		disease Disease or Syndrome 2 2 0.010 None 1.000 1 1990 1990
CUI: C4022794
Disease: Parietal hypometabolism in FDG PET
Parietal hypometabolism in FDG PET 		phenotype Finding 3 0.100 None 0
CUI: C1969363
Disease: Middle age onset
Middle age onset 		phenotype Finding 5 0.100 None 0
CUI: C3711380
Disease: Huntington Disease-Like Syndrome
Huntington Disease-Like Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 6 1 0.100 None 0 1
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: 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: C1853934
Disease: Deposits immunoreactive to beta-amyloid protein
Deposits immunoreactive to beta-amyloid protein 		phenotype Finding 8 0.100 None 0
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 1 1998 1998
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: C1833362
Disease: Sleep-wake cycle disturbance
Sleep-wake cycle disturbance 		phenotype Finding 10 0.100 None 0
CUI: C0233407
Disease: Disorientation
Disorientation 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms Sign or Symptom 12 0.020 None 1.000 2 2009 2016
CUI: C0338445
Disease: Familial Alzheimer's disease of early onset
Familial Alzheimer's disease of early onset 		disease Nervous System Diseases; Mental Disorders Disease or Syndrome 14 33 0.100 None 0.976 41 3 1995 2019
CUI: C0236053
Disease: Mucosal ulcer
Mucosal ulcer 		disease Pathological Conditions, Signs and Symptoms; Digestive System Diseases Disease or Syndrome 15 0.010 None 1.000 1 1991 1991
CUI: C0751071
Disease: Familial Dementia
Familial Dementia 		disease Nervous System Diseases; Mental Disorders Mental or Behavioral Dysfunction 18 5 0.010 None 1.000 1 2014 2014
CUI: C4021087
Disease: Abnormal social behavior
Abnormal social behavior 		phenotype Behavior and Behavior Mechanisms Finding 19 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 0.100 None 0
CUI: C0085400
Disease: Neurofibrillary degeneration (morphologic abnormality)
Neurofibrillary degeneration (morphologic abnormality) 		phenotype Cell or Molecular Dysfunction 21 0.100 None 0
CUI: C0234410
Disease: Physiologic disinhibition
Physiologic disinhibition 		phenotype Organ or Tissue Function 23 0.100 None 0
CUI: C2748208
Disease: Executive dysfunction
Executive dysfunction 		disease Mental or Behavioral Dysfunction 33 3 0.010 None 1.000 1 2012 2012
CUI: C0234144
Disease: Dysgraphia
Dysgraphia 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Mental or Behavioral Dysfunction 43 2 0.100 None 0
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: C0424296
Disease: Social disinhibition
Social disinhibition 		disease Mental Disorders Mental or Behavioral Dysfunction 56 5 0.100 None 0
CUI: C0085220
Disease: Cerebral Amyloid Angiopathy
Cerebral Amyloid Angiopathy 		disease Nutritional and Metabolic Diseases; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 65 22 0.100 None 0