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: C1843013
Disease: Alzheimer disease, familial, type 3
Alzheimer disease, familial, type 3
disease Nervous System Diseases; Mental Disorders Disease or Syndrome 213 124 0.900 None 0.993 142 105 1995 2020
CUI: C0338451
Disease: Frontotemporal dementia
Frontotemporal dementia
disease Nutritional and Metabolic Diseases; Nervous System Diseases; Mental Disorders Disease or Syndrome 320 215 0.800 None 1.000 82 24 1995 2018
CUI: C0236642
Disease: Pick Disease of the Brain
Pick Disease of the Brain
disease Nervous System Diseases; Mental Disorders Disease or Syndrome 213 83 0.800 None 1.000 79 18 1995 2018
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
disease Nervous System Diseases; Mental Disorders Disease or Syndrome 3397 1843 0.700 None 0.971 682 62 1990 2020
CUI: C3160720
Disease: Cardiomyopathy, Dilated, 1u
Cardiomyopathy, Dilated, 1u
disease Cardiovascular Diseases Disease or Syndrome 1 3 0.700 None 1.000 5 3 2006 2017
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: 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: C0233794
Disease: Memory impairment
Memory impairment
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 763 48 0.500 None 0.966 29 3 2002 2020
CUI: C0011581
Disease: Depressive disorder
Depressive disorder
disease Mental Disorders Mental or Behavioral Dysfunction 1719 297 0.440 None 1.000 7 2000 2018
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
group Cardiovascular Diseases Disease or Syndrome 512 509 0.420 None 1.000 3 2006 2014
CUI: C0013421
Disease: Dystonia
Dystonia
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 453 97 0.410 None 1.000 3 1 2012 2017
CUI: C0276496
Disease: Familial Alzheimer Disease (FAD)
Familial Alzheimer Disease (FAD)
disease Nervous System Diseases; Mental Disorders Disease or Syndrome 260 95 0.400 None 0.971 308 42 1988 2020
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: C0011265
Disease: Presenile dementia
Presenile dementia
disease Nervous System Diseases; Mental Disorders Mental or Behavioral Dysfunction 718 159 0.400 None 0.986 70 19 1990 2019
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: C0494463
Disease: Alzheimer Disease, Late Onset
Alzheimer Disease, Late Onset
disease Nervous System Diseases; Mental Disorders Mental or Behavioral Dysfunction 385 243 0.400 None 0.938 48 4 1995 2020
CUI: C0002726
Disease: Amyloidosis
Amyloidosis
disease Nutritional and Metabolic Diseases Disease or Syndrome 694 93 0.400 None 1.000 38 2 1997 2020
CUI: C0009241
Disease: Cognition Disorders
Cognition Disorders
group Mental Disorders Mental or Behavioral Dysfunction 607 47 0.400 None 1.000 11 2 1999 2018
CUI: C0524851
Disease: Neurodegenerative Disorders
Neurodegenerative Disorders
group Nervous System Diseases Disease or Syndrome 1515 85 0.390 None 1.000 10 3 2002 2016
CUI: C0751295
Disease: Memory Loss
Memory Loss
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms Sign or Symptom 163 10 0.350 None 1.000 7 2008 2017
CUI: C0011570
Disease: Mental Depression
Mental Depression
disease Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 1478 271 0.330 None 1.000 6 2001 2018
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
group Cardiovascular Diseases Disease or Syndrome 925 294 0.320 None 1.000 3 2006 2018
CUI: C1449563
Disease: Cardiomyopathy, Familial Idiopathic
Cardiomyopathy, Familial Idiopathic
disease Cardiovascular Diseases Disease or Syndrome 773 243 0.320 None 1.000 2 2 2006 2011
CUI: C1840560
Disease: Hidradenitis suppurativa, familial
Hidradenitis suppurativa, familial
disease Infections; Skin and Connective Tissue Diseases Disease or Syndrome 5 0.310 None 1.000 2 2010 2014
CUI: C0751265
Disease: Learning Disabilities
Learning Disabilities
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders Mental or Behavioral Dysfunction 103 5 0.310 None 1.000 2 1 2014 2019