Source: HPO

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: C0338451
Disease: Frontotemporal dementia
Frontotemporal dementia 		disease 0.800 None 1.000 0 0 1995 2018
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 0 0 1990 2020
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 0 0 2000 2000
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 0 0 2002 2020
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1 		presenilin 1 0.469 0.846 0.97
CUI: C0011581
Disease: Depressive disorder
Depressive disorder 		disease 0.440 None 1.000 0 0 2000 2018
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 0 0 2006 2014
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 0 0 2012 2017
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1 		presenilin 1 0.469 0.846 0.97
CUI: C0497327
Disease: Dementia
Dementia 		disease 0.200 None 0.983 0 0 1990 2019
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1 		presenilin 1 0.469 0.846 0.97
CUI: C0333463
Disease: Senile Plaques
Senile Plaques 		disease 0.200 None 1.000 0 0 1996 2018
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1 		presenilin 1 0.469 0.846 0.97
CUI: C0036572
Disease: Seizures
Seizures 		phenotype 0.200 None 1.000 0 0 2000 2018
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1 		presenilin 1 0.469 0.846 0.97
CUI: C0542476
Disease: Forgetful
Forgetful 		phenotype 0.190 None 1.000 0 0 2002 2019
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1 		presenilin 1 0.469 0.846 0.97
CUI: C0242422
Disease: Parkinsonian Disorders
Parkinsonian Disorders 		group 0.170 None 1.000 0 0 2002 2019
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1 		presenilin 1 0.469 0.846 0.97
CUI: C0027066
Disease: Myoclonus
Myoclonus 		phenotype 0.160 None 1.000 0 0 1997 2019
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1 		presenilin 1 0.469 0.846 0.97
CUI: C0240735
Disease: Personality Change
Personality Change 		phenotype 0.140 None 1.000 0 0 2003 2017
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1 		presenilin 1 0.469 0.846 0.97
CUI: C0235946
Disease: Cerebral atrophy
Cerebral atrophy 		disease 0.130 None 1.000 0 0 2012 2016
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1 		presenilin 1 0.469 0.846 0.97
CUI: C0018802
Disease: Congestive heart failure
Congestive heart failure 		disease 0.130 None 1.000 0 0 2006 2018
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1 		presenilin 1 0.469 0.846 0.97
CUI: C0013362
Disease: Dysarthria
Dysarthria 		disease 0.130 None 1.000 0 0 2004 2008
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1 		presenilin 1 0.469 0.846 0.97
CUI: C0009676
Disease: Confusion
Confusion 		phenotype 0.120 None 1.000 0 0 2009 2016
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1 		presenilin 1 0.469 0.846 0.97
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		disease 0.120 None 1.000 0 0 2000 2015
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1 		presenilin 1 0.469 0.846 0.97
CUI: C4551584
Disease: Brain atrophy
Brain atrophy 		disease 0.120 None 1.000 0 0 2012 2016
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1 		presenilin 1 0.469 0.846 0.97
CUI: C0004134
Disease: Ataxia
Ataxia 		phenotype 0.120 None 1.000 0 0 2007 2014
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1 		presenilin 1 0.469 0.846 0.97
CUI: C0234133
Disease: Extrapyramidal sign
Extrapyramidal sign 		phenotype 0.120 None 1.000 0 0 2010 2017
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1 		presenilin 1 0.469 0.846 0.97
CUI: C0023015
Disease: Language Disorders
Language Disorders 		group 0.120 None 1.000 0 0 2004 2019
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1 		presenilin 1 0.469 0.846 0.97
CUI: C0162836
Disease: Hidradenitis Suppurativa
Hidradenitis Suppurativa 		disease 0.110 None 1.000 0 0 2019 2019
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1 		presenilin 1 0.469 0.846 0.97
CUI: C0234502
Disease: Visual Agnosia
Visual Agnosia 		phenotype 0.110 None 1.000 0 0 2013 2013