Source: INFERRED

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: C1843013
Disease: Alzheimer disease, familial, type 3
Alzheimer disease, familial, type 3 		disease 0.900 None 0.993 62 33 1995 2020
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 59 18 1995 2018
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1 		presenilin 1 0.469 0.846 0.97
CUI: C0236642
Disease: Pick Disease of the Brain
Pick Disease of the Brain 		disease 0.800 None 1.000 59 16 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 6 1990 2020
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1 		presenilin 1 0.469 0.846 0.97
CUI: C3160720
Disease: Cardiomyopathy, Dilated, 1u
Cardiomyopathy, Dilated, 1u 		disease 0.700 None 1.000 0 3 2006 2017
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 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 1 1 2012 2017
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1 		presenilin 1 0.469 0.846 0.97
CUI: C3151038
Disease: ACNE INVERSA, FAMILIAL, 3
ACNE INVERSA, FAMILIAL, 3 		disease 0.400 None 1.000 59 15 1995 2018
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1 		presenilin 1 0.469 0.846 0.97
CUI: C0037771
Disease: Paraparesis, Spastic
Paraparesis, Spastic 		phenotype 0.200 None 0.944 1 1 2001 2016
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 2 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: C0234985
Disease: Mental deterioration
Mental deterioration 		phenotype 0.200 None 1.000 0 2 1998 2019
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: 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: 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: 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: C0026837
Disease: Muscle Rigidity
Muscle Rigidity 		phenotype 0.120 None 1.000 1 1 2002 2014