PSEN2, presenilin 2, 5664

N. diseases: 146; N. variants: 32
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3150958
Disease: Cardiomyopathy, Dilated, 1V
Cardiomyopathy, Dilated, 1V 		0.700 CausalMutation disease CLINVAR
CUI: C3150958
Disease: Cardiomyopathy, Dilated, 1V
Cardiomyopathy, Dilated, 1V 		0.700 Biomarker disease GENOMICS_ENGLAND
CUI: C3150958
Disease: Cardiomyopathy, Dilated, 1V
Cardiomyopathy, Dilated, 1V 		0.700 Biomarker disease CTD_human
CUI: C1847200
Disease: ALZHEIMER DISEASE 4
ALZHEIMER DISEASE 4 		0.600 Biomarker disease CTD_human
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.500 Biomarker disease HPO
CUI: C0497327
Disease: Dementia
Dementia 		0.500 Biomarker disease HPO
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.400 Biomarker group HPO
CUI: C0009676
Disease: Confusion
Confusion 		0.120 Biomarker phenotype HPO
CUI: C0023015
Disease: Language Disorders
Language Disorders 		0.120 Biomarker group HPO
CUI: C0333463
Disease: Senile Plaques
Senile Plaques 		0.120 Biomarker disease HPO
CUI: C0018802
Disease: Congestive heart failure
Congestive heart failure 		0.110 Biomarker disease HPO
CUI: C0027066
Disease: Myoclonus
Myoclonus 		0.110 Biomarker phenotype HPO
CUI: C0003537
Disease: Aphasia
Aphasia 		0.100 Biomarker disease HPO
CUI: C0004134
Disease: Ataxia
Ataxia 		0.100 Biomarker phenotype HPO
CUI: C0018524
Disease: Hallucinations
Hallucinations 		0.100 Biomarker disease HPO
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		0.100 Biomarker disease HPO
CUI: C0023787
Disease: Lipodystrophy
Lipodystrophy 		0.100 Biomarker disease HPO
CUI: C0026826
Disease: Muscle Hypertonia
Muscle Hypertonia 		0.100 Biomarker phenotype HPO
CUI: C0026848
Disease: Myopathy
Myopathy 		0.100 Biomarker group HPO
CUI: C0036572
Disease: Seizures
Seizures 		0.100 Biomarker phenotype HPO
CUI: C0039070
Disease: Syncope
Syncope 		0.100 Biomarker phenotype HPO
CUI: C0085220
Disease: Cerebral Amyloid Angiopathy
Cerebral Amyloid Angiopathy 		0.100 Biomarker disease HPO
CUI: C0085400
Disease: Neurofibrillary degeneration (morphologic abnormality)
Neurofibrillary degeneration (morphologic abnormality) 		0.100 Biomarker phenotype HPO
CUI: C0085631
Disease: Agitation
Agitation 		0.100 Biomarker phenotype HPO
CUI: C0233794
Disease: Memory impairment
Memory impairment 		0.100 Biomarker phenotype HPO