REG1A, regenerating family member 1 alpha, 5967

N. diseases: 264; N. variants: 2
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs544706237
rs544706237
Entrez Id: 5967
Gene Symbol: REG1A
REG1A
CUI: C0338656
Disease:
Impaired cognition 		0.010 GeneticVariation BEFREE Age-dependent neuroinflammation and cognitive decline in a novel Ala152Thr-Tau transgenic mouse model of PSP and AD. 26916334 2016
dbSNP: rs544706237
rs544706237
Entrez Id: 5967
Gene Symbol: REG1A
REG1A
CUI: C0338451
Disease:
Frontotemporal dementia 		0.010 GeneticVariation BEFREE Recently, the Tau mutation A152T was described as a novel risk factor for frontotemporal dementia spectrum disorders and Alzheimer disease. 26916334 2016
dbSNP: rs544706237
rs544706237
Entrez Id: 5967
Gene Symbol: REG1A
REG1A
CUI: C0236642
Disease:
Pick Disease of the Brain 		0.010 GeneticVariation BEFREE Recently, the Tau mutation A152T was described as a novel risk factor for frontotemporal dementia spectrum disorders and Alzheimer disease. 26916334 2016
dbSNP: rs544706237
rs544706237
Entrez Id: 5967
Gene Symbol: REG1A
REG1A
CUI: C0234985
Disease:
Mental deterioration 		0.010 GeneticVariation BEFREE Age-dependent neuroinflammation and cognitive decline in a novel Ala152Thr-Tau transgenic mouse model of PSP and AD. 26916334 2016
dbSNP: rs544706237
rs544706237
Entrez Id: 5967
Gene Symbol: REG1A
REG1A
CUI: C0002395
Disease:
Alzheimer's Disease 		0.010 GeneticVariation BEFREE Recently, the Tau mutation A152T was described as a novel risk factor for frontotemporal dementia spectrum disorders and Alzheimer disease. 26916334 2016
dbSNP: rs1401496725
rs1401496725
Entrez Id: 5967
Gene Symbol: REG1A
REG1A
CUI: C0338451
Disease:
Frontotemporal dementia 		0.010 GeneticVariation BEFREE We consider G55R to be a candidate mutation for bvFTD since additional criteria required to establish causality are not yet available for assessment. 24086739 2013
dbSNP: rs1401496725
rs1401496725
Entrez Id: 5967
Gene Symbol: REG1A
REG1A
CUI: C0236642
Disease:
Pick Disease of the Brain 		0.010 GeneticVariation BEFREE A novel MAPT mutation, G55R, in a frontotemporal dementia patient leads to altered Tau function. 24086739 2013