Source: CURATED

Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1 		presenilin 1 0.469 0.846 0.97
CUI: C0751292
Disease: Age-Related Memory Disorders
Age-Related Memory Disorders 		group 0.300 None 1.000 2 0 2014 2017
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1 		presenilin 1 0.469 0.846 0.97
CUI: C0524851
Disease: Neurodegenerative Disorders
Neurodegenerative Disorders 		group 0.390 None 1.000 1 0 2002 2016
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1 		presenilin 1 0.469 0.846 0.97
CUI: C0751262
Disease: Adult Learning Disorders
Adult Learning Disorders 		group 0.300 None 1.000 1 0 2014 2014
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1 		presenilin 1 0.469 0.846 0.97
CUI: C0751733
Disease: Degenerative Diseases, Spinal Cord
Degenerative Diseases, Spinal Cord 		group 0.300 None 1.000 1 0 2013 2013
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1 		presenilin 1 0.469 0.846 0.97
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		group 0.420 None 1.000 1 0 2006 2014
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1 		presenilin 1 0.469 0.846 0.97
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		group 0.320 None 1.000 1 0 2006 2018
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1 		presenilin 1 0.469 0.846 0.97
CUI: C0009241
Disease: Cognition Disorders
Cognition Disorders 		group 0.400 None 1.000 1 0 1999 2018
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1 		presenilin 1 0.469 0.846 0.97
CUI: C0033141
Disease: Cardiomyopathies, Primary
Cardiomyopathies, Primary 		group 0.300 None 1.000 1 0 2018 2018
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1 		presenilin 1 0.469 0.846 0.97
CUI: C0023186
Disease: Learning Disorders
Learning Disorders 		group 0.300 None 1.000 1 0 2014 2014
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1 		presenilin 1 0.469 0.846 0.97
CUI: C0036529
Disease: Myocardial Diseases, Secondary
Myocardial Diseases, Secondary 		group 0.300 None 1.000 1 0 2018 2018
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1 		presenilin 1 0.469 0.846 0.97
CUI: C0270715
Disease: Degenerative Diseases, Central Nervous System
Degenerative Diseases, Central Nervous System 		group 0.300 None 1.000 1 0 2013 2013
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1 		presenilin 1 0.469 0.846 0.97
CUI: C0751293
Disease: Memory Disorder, Semantic
Memory Disorder, Semantic 		phenotype 0.300 None 1.000 2 0 2014 2017
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1 		presenilin 1 0.469 0.846 0.97
CUI: C0233794
Disease: Memory impairment
Memory impairment 		phenotype 0.500 None 0.966 2 0 2002 2020
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1 		presenilin 1 0.469 0.846 0.97
CUI: C0751294
Disease: Memory Disorder, Spatial
Memory Disorder, Spatial 		phenotype 0.300 None 1.000 2 0 2014 2017
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1 		presenilin 1 0.469 0.846 0.97
CUI: C0013421
Disease: Dystonia
Dystonia 		phenotype 0.410 None 1.000 2 1 2012 2017
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1 		presenilin 1 0.469 0.846 0.97
CUI: C0751295
Disease: Memory Loss
Memory Loss 		phenotype 0.350 None 1.000 2 0 2008 2017
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1 		presenilin 1 0.469 0.846 0.97
CUI: C0038002
Disease: Splenomegaly
Splenomegaly 		phenotype 0.300 None 1.000 1 0 2016 2016
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1 		presenilin 1 0.469 0.846 0.97
CUI: C0027746
Disease: Nerve Degeneration
Nerve Degeneration 		phenotype 0.300 None 1.000 1 0 2009 2009
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1 		presenilin 1 0.469 0.846 0.97
CUI: C1330966
Disease: Developmental Academic Disorder
Developmental Academic Disorder 		phenotype 0.300 None 1.000 1 0 2014 2014
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1 		presenilin 1 0.469 0.846 0.97
CUI: C1843013
Disease: Alzheimer disease, familial, type 3
Alzheimer disease, familial, type 3 		disease 0.900 None 0.993 84 104 1995 2020
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1 		presenilin 1 0.469 0.846 0.97
CUI: C0494463
Disease: Alzheimer Disease, Late Onset
Alzheimer Disease, Late Onset 		disease 0.400 None 0.938 13 0 1995 2020
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1 		presenilin 1 0.469 0.846 0.97
CUI: C0750901
Disease: Alzheimer Disease, Early Onset
Alzheimer Disease, Early Onset 		disease 0.400 None 0.958 13 0 1995 2020
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1 		presenilin 1 0.469 0.846 0.97
CUI: C0276496
Disease: Familial Alzheimer Disease (FAD)
Familial Alzheimer Disease (FAD) 		disease 0.400 None 0.971 13 0 1988 2020
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1 		presenilin 1 0.469 0.846 0.97
CUI: C0546126
Disease: Acute Confusional Senile Dementia
Acute Confusional Senile Dementia 		disease 0.300 None 1.000 13 0 1995 2017
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1 		presenilin 1 0.469 0.846 0.97
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		disease 0.700 None 0.971 13 6 1990 2020