PSEN1, presenilin 1, 5663

N. diseases: 369; N. variants: 155
Disease: Semantic Dementia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0338462
Disease: Semantic Dementia
Semantic Dementia 		0.600 Biomarker disease CTD_human Dementia with prominent frontotemporal features associated with L113P presenilin 1 mutation. 11094121 2000
CUI: C0338462
Disease: Semantic Dementia
Semantic Dementia 		0.600 GermlineCausalMutation disease ORPHANET Dementia with prominent frontotemporal features associated with L113P presenilin 1 mutation. 11094121 2000
CUI: C0338462
Disease: Semantic Dementia
Semantic Dementia 		0.600 Biomarker disease HPO