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: C1843015
Disease: Alzheimer Disease, Familial, 3, with Spastic Paraparesis and Apraxia
Alzheimer Disease, Familial, 3, with Spastic Paraparesis and Apraxia 		disease 0.600 None 1.000 0 2 1997 2006
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1 		presenilin 1 0.469 0.846 0.97
CUI: C0338462
Disease: Semantic Dementia
Semantic Dementia 		disease 0.600 None 1.000 1 0 2000 2000
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: C0002726
Disease: Amyloidosis
Amyloidosis 		disease 0.400 None 1.000 1 0 1997 2020
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: 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: C1449563
Disease: Cardiomyopathy, Familial Idiopathic
Cardiomyopathy, Familial Idiopathic 		disease 0.320 None 1.000 1 0 2006 2011
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: C1840560
Disease: Hidradenitis suppurativa, familial
Hidradenitis suppurativa, familial 		disease 0.310 None 1.000 1 0 2010 2014
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1 		presenilin 1 0.469 0.846 0.97
CUI: C0751265
Disease: Learning Disabilities
Learning Disabilities 		disease 0.310 None 1.000 1 0 2014 2019
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1 		presenilin 1 0.469 0.846 0.97
CUI: C0340427
Disease: Familial dilated cardiomyopathy
Familial dilated cardiomyopathy 		disease 0.300 None 1.000 1 0 2006 2006
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: C4011788
Disease: Behavioral variant of frontotemporal dementia
Behavioral variant of frontotemporal dementia 		disease 0.300 None 1.000 1 0 2000 2000
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1 		presenilin 1 0.469 0.846 0.97
CUI: C0751263
Disease: Learning Disturbance
Learning Disturbance 		disease 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: 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: 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: 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: 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: 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: 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: C0751706
Disease: Primary Progressive Nonfluent Aphasia
Primary Progressive Nonfluent Aphasia 		disease 0.300 None 1.000 1 0 2004 2004
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1 		presenilin 1 0.469 0.846 0.97
CUI: C0004045
Disease: Asphyxia Neonatorum
Asphyxia Neonatorum 		disease 0.300 None 1.000 1 0 2008 2008
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