DisGeNET - a database of gene-disease associations

Memory impairment, C0233794

Source: ALL

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs104894396

GJB2

0.700

CausalMutation

CLINVAR

dbSNP:

rs1163944538

TMEM94

0.700

CausalMutation

CLINVAR

dbSNP:

rs1352010373

TMEM94

0.700

CausalMutation

CLINVAR

dbSNP:

rs148881970

NAGLU

0.700

CausalMutation

CLINVAR

dbSNP:

rs1554317002

CDK13 ; LOC112267983

0.700

GeneticVariation

CLINVAR

dbSNP:

rs1555735545

STRN4 ; FKRP

0.700

CausalMutation

CLINVAR

dbSNP:

rs28937900

FKRP

0.700

CausalMutation

CLINVAR

dbSNP:

rs370717845

HGSNAT

0.700

CausalMutation

CLINVAR

dbSNP:

rs555145190

NAGLU

0.700

CausalMutation

CLINVAR

dbSNP:

rs63751011

MAPT

0.700

CausalMutation

CLINVAR

dbSNP:

rs768823392

SPG7

0.700

CausalMutation

CLINVAR

dbSNP:

rs80356702

CLCN1

0.700

GeneticVariation

CLINVAR

dbSNP:

rs1556424691

CYTB ; ND6 ; TRNT

0.700

CausalMutation

CLINVAR

Mitochondrial disorder associated with newborn cardiopulmonary arrest.

8511015

1993

dbSNP:

rs572842823

APP

0.010

GeneticVariation

BEFREE

A recently described mouse line, Tg(HuAPP695.K670N/M671L)2576, expressing human amyloid precursor protein with a familial AD gene mutation, age-related amyloid deposits, and memory deficits, was found to develop a significant microglial response using Griffonia simplicifolia lectin or phosphotyrosine probe to identify microglia Both Griffonia simplicifolia lectin and phosphotyrosine staining showed increased numbers of intensely labeled, often enlarged microglia clustered in and around plaques, consistent with microglial activation related to beta-amyloid formation.

9422548

1998

dbSNP:

rs63750264

APP

0.020

GeneticVariation

BEFREE

We previously showed that mice over-expressing a human mutated form of APP (APP(V717F)) display age-dependent recognition memory deficits associated with the progression of amyloid deposition.

10718322

2000

dbSNP:

rs63750424

MAPT

0.020

GeneticVariation

BEFREE

Tau filament formation and associative memory deficit in aged mice expressing mutant (R406W) human tau.

12368474

2002

dbSNP:

rs17125721

PSEN1

0.010

GeneticVariation

BEFREE

Association between the presenilin-1 mutation Glu318Gly and complaints of memory impairment.

11755019

2002

dbSNP:

rs63750264

APP

0.020

GeneticVariation

BEFREE

The Tg-APP (Sw, V717F)/B6 mice at 11-14 months displayed decreased motor coordination, learning and memory deficits, and severely increased anxiety.

15114629

2004

dbSNP:

rs781049584

APP

0.010

GeneticVariation

BEFREE

Mice carrying mutated human APPswe and PS1 (A246E) transgenes (A/P mice) show age-dependent memory impairment in hippocampus-dependent tasks.

15006688

2004

dbSNP:

rs281865071

CHRNB2

0.020

GeneticVariation

BEFREE

The CHRNB2 mutation I312M is associated with epilepsy and distinct memory deficits.

15964197

2005

dbSNP:

rs6265

BDNF ; BDNF-AS

0.030

GeneticVariation

BEFREE

A previously reported valine to methionine substitution at amino-acid position 66 (BDNF Val66Met) seems to account for memory disturbance and hippocampal dysfunction.

17392738

2007

dbSNP:

rs759834365

BDNF ; BDNF-AS

0.030

GeneticVariation

BEFREE

A previously reported valine to methionine substitution at amino-acid position 66 (BDNF Val66Met) seems to account for memory disturbance and hippocampal dysfunction.

17392738

2007

dbSNP:

rs4680

COMT ; MIR4761

0.020

GeneticVariation

BEFREE

We propose that an interaction of the DRD2 C957T and COMT Val158Met may be involved in the generation of some working memory deficits in schizophrenia.

17113268

2007

dbSNP:

rs6277

DRD2

0.010

GeneticVariation

BEFREE

We propose that an interaction of the DRD2 C957T and COMT Val158Met may be involved in the generation of some working memory deficits in schizophrenia.

17113268

2007

dbSNP:

rs281865071

CHRNB2

0.020

GeneticVariation

BEFREE

Autosomal dominant nocturnal frontal lobe epilepsy and mild memory impairment associated with CHRNB2 mutation I312M in the neuronal nicotinic acetylcholine receptor.

18534914

2008