Source: CLINVAR

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: 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: 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: 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: 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: 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: 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: 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: 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: C0026837
Disease: Muscle Rigidity
Muscle Rigidity 		phenotype 0.120 None 1.000 1 1 2002 2014
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1 		presenilin 1 0.469 0.846 0.97
CUI: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy 		disease 0.110 None 1.000 1 1 2014 2017
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1 		presenilin 1 0.469 0.846 0.97
CUI: C0011168
Disease: Deglutition Disorders
Deglutition Disorders 		group 0.110 None 1.000 1 1 2006 2014
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1 		presenilin 1 0.469 0.846 0.97
CUI: C0233565
Disease: Bradykinesia
Bradykinesia 		phenotype 0.110 None 1.000 1 1 2014 2018
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1 		presenilin 1 0.469 0.846 0.97
CUI: C1845274
Disease: Abnormal conjugate eye movement
Abnormal conjugate eye movement 		phenotype 0.100 None 1.000 1 1 2014 2014
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1 		presenilin 1 0.469 0.846 0.97
CUI: C1846460
Disease: Abnormality of the outer ear
Abnormality of the outer ear 		disease 0.100 None 1.000 1 1 2014 2014
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1 		presenilin 1 0.469 0.846 0.97
CUI: C1857304
Disease: Flexion contracture of finger
Flexion contracture of finger 		phenotype 0.100 None 1.000 1 1 2014 2014
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1 		presenilin 1 0.469 0.846 0.97
CUI: C1859520
Disease: Progressive spasticity
Progressive spasticity 		phenotype 0.100 None 1.000 1 1 2014 2014
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1 		presenilin 1 0.469 0.846 0.97
CUI: C1866129
Disease: Abnormality of the cerebellum
Abnormality of the cerebellum 		group 0.100 None 1.000 1 1 2014 2014
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1 		presenilin 1 0.469 0.846 0.97
CUI: C1853766
Disease: Pontocerebellar atrophy
Pontocerebellar atrophy 		phenotype 0.100 None 1.000 1 1 2014 2014
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1 		presenilin 1 0.469 0.846 0.97
CUI: C4022899
Disease: Bilateral wrist flexion contracture
Bilateral wrist flexion contracture 		phenotype 0.100 None 1.000 1 1 2014 2014
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1 		presenilin 1 0.469 0.846 0.97
CUI: C4024949
Disease: Generalized hyperreflexia
Generalized hyperreflexia 		phenotype 0.100 None 1.000 1 1 2014 2014
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1 		presenilin 1 0.469 0.846 0.97
CUI: C1837731
Disease: Overfolded helix
Overfolded helix 		phenotype 0.100 None 1.000 1 1 2014 2014
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1 		presenilin 1 0.469 0.846 0.97
CUI: C1837108
Disease: Decreased muscle mass
Decreased muscle mass 		phenotype 0.100 None 1.000 1 1 2014 2014