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: C0234985
Disease: Mental deterioration
Mental deterioration 		0.200 CausalMutation phenotype CLINVAR
CUI: C0333463
Disease: Senile Plaques
Senile Plaques 		0.200 Biomarker disease HPO
CUI: C0497327
Disease: Dementia
Dementia 		0.200 Biomarker disease HPO
CUI: C0497327
Disease: Dementia
Dementia 		0.200 GeneticVariation disease CLINVAR
CUI: C0497327
Disease: Dementia
Dementia 		0.200 CausalMutation disease CLINVAR
CUI: C0542476
Disease: Forgetful
Forgetful 		0.190 Biomarker phenotype HPO
CUI: C0242422
Disease: Parkinsonian Disorders
Parkinsonian Disorders 		0.170 Biomarker group HPO
CUI: C0027066
Disease: Myoclonus
Myoclonus 		0.160 Biomarker phenotype HPO
CUI: C0240735
Disease: Personality Change
Personality Change 		0.140 Biomarker phenotype HPO
CUI: C0013362
Disease: Dysarthria
Dysarthria 		0.130 Biomarker disease HPO
CUI: C0018802
Disease: Congestive heart failure
Congestive heart failure 		0.130 Biomarker disease HPO
CUI: C0235946
Disease: Cerebral atrophy
Cerebral atrophy 		0.130 Biomarker disease HPO
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		0.120 Biomarker disease HPO
CUI: C0004134
Disease: Ataxia
Ataxia 		0.120 Biomarker phenotype HPO
CUI: C0009676
Disease: Confusion
Confusion 		0.120 Biomarker phenotype HPO
CUI: C0023015
Disease: Language Disorders
Language Disorders 		0.120 Biomarker group HPO
CUI: C0234133
Disease: Extrapyramidal sign
Extrapyramidal sign 		0.120 Biomarker phenotype HPO
CUI: C4551584
Disease: Brain atrophy
Brain atrophy 		0.120 Biomarker disease HPO
CUI: C0003467
Disease: Anxiety
Anxiety 		0.110 Biomarker disease HPO
CUI: C0003635
Disease: Apraxias
Apraxias 		0.110 Biomarker group HPO
CUI: C0011168
Disease: Deglutition Disorders
Deglutition Disorders 		0.110 Biomarker group HPO
CUI: C0018524
Disease: Hallucinations
Hallucinations 		0.110 Biomarker disease HPO
CUI: C0162836
Disease: Hidradenitis Suppurativa
Hidradenitis Suppurativa 		0.110 Biomarker disease HPO
CUI: C0234502
Disease: Visual Agnosia
Visual Agnosia 		0.110 Biomarker phenotype HPO
CUI: C4551583
Disease: Cerebral cortical atrophy
Cerebral cortical atrophy 		0.110 Biomarker disease HPO