PSEN1, presenilin 1, 5663

N. diseases: 369; N. variants: 155
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1843013
Disease: Alzheimer disease, familial, type 3
Alzheimer disease, familial, type 3 		0.900 Biomarker disease GENOMICS_ENGLAND
CUI: C0236642
Disease: Pick Disease of the Brain
Pick Disease of the Brain 		0.800 Biomarker disease GENOMICS_ENGLAND
CUI: C0236642
Disease: Pick Disease of the Brain
Pick Disease of the Brain 		0.800 GeneticVariation disease CLINVAR
CUI: C0338451
Disease: Frontotemporal dementia
Frontotemporal dementia 		0.800 GeneticVariation disease CLINVAR
CUI: C0338451
Disease: Frontotemporal dementia
Frontotemporal dementia 		0.800 Biomarker disease HPO
CUI: C0338451
Disease: Frontotemporal dementia
Frontotemporal dementia 		0.800 Biomarker disease GENOMICS_ENGLAND
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.700 Biomarker disease MGD
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.700 Biomarker disease HPO
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.700 GeneticVariation disease CLINVAR
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.700 CausalMutation disease CLINVAR
CUI: C3160720
Disease: Cardiomyopathy, Dilated, 1u
Cardiomyopathy, Dilated, 1u 		0.700 Biomarker disease GENOMICS_ENGLAND
CUI: C3160720
Disease: Cardiomyopathy, Dilated, 1u
Cardiomyopathy, Dilated, 1u 		0.700 GeneticVariation disease CLINVAR
CUI: C3160720
Disease: Cardiomyopathy, Dilated, 1u
Cardiomyopathy, Dilated, 1u 		0.700 Biomarker disease CTD_human
CUI: C3160720
Disease: Cardiomyopathy, Dilated, 1u
Cardiomyopathy, Dilated, 1u 		0.700 CausalMutation disease CLINVAR
CUI: C0338462
Disease: Semantic Dementia
Semantic Dementia 		0.600 Biomarker disease HPO
CUI: C1843015
Disease: Alzheimer Disease, Familial, 3, with Spastic Paraparesis and Apraxia
Alzheimer Disease, Familial, 3, with Spastic Paraparesis and Apraxia 		0.600 Biomarker disease CTD_human
CUI: C1843015
Disease: Alzheimer Disease, Familial, 3, with Spastic Paraparesis and Apraxia
Alzheimer Disease, Familial, 3, with Spastic Paraparesis and Apraxia 		0.600 CausalMutation disease CLINVAR
CUI: C0233794
Disease: Memory impairment
Memory impairment 		0.500 Biomarker phenotype HPO
CUI: C0011581
Disease: Depressive disorder
Depressive disorder 		0.440 Biomarker disease HPO
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.420 Biomarker group HPO
CUI: C0013421
Disease: Dystonia
Dystonia 		0.410 Biomarker phenotype HPO
CUI: C0013421
Disease: Dystonia
Dystonia 		0.410 Biomarker phenotype GENOMICS_ENGLAND
CUI: C3151038
Disease: ACNE INVERSA, FAMILIAL, 3
ACNE INVERSA, FAMILIAL, 3 		0.400 GeneticVariation disease CLINVAR
CUI: C0036572
Disease: Seizures
Seizures 		0.200 Biomarker phenotype HPO
CUI: C0234985
Disease: Mental deterioration
Mental deterioration 		0.200 GeneticVariation phenotype CLINVAR