PSEN1, presenilin 1, 5663

N. diseases: 369; N. variants: 155
Disease: Alzheimer Disease, Familial, 3, with Spastic Paraparesis and Apraxia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
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 MGD Formation of tau inclusions in knock-in mice with familial Alzheimer disease (FAD) mutation of presenilin 1 (PS1). 16377636 2006
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 MGD Presenilin 1 familial Alzheimer's disease mutation leads to defective associative learning and impaired adult neurogenesis. 15207348 2004
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 MGD Increased vulnerability of hippocampal neurons to excitotoxic necrosis in presenilin-1 mutant knock-in mice. 9883847 1999
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 MGD Skeletal and CNS defects in Presenilin-1-deficient mice. 9160754 1997
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