NEXN, nexilin F-actin binding protein, 91624

N. diseases: 36; N. variants: 8
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs146245480
rs146245480
Entrez Id: 91624
Gene Symbol: NEXN
NEXN
CUI: C3151267
Disease:
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 20
0.800 GeneticVariation UNIPROT Mutations in NEXN, a Z-disc gene, are associated with hypertrophic cardiomyopathy. 20970104 2010
dbSNP: rs387907079
rs387907079
Entrez Id: 91624
Gene Symbol: NEXN
NEXN
CUI: C3151267
Disease:
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 20
0.800 GeneticVariation UNIPROT Mutations in NEXN, a Z-disc gene, are associated with hypertrophic cardiomyopathy. 20970104 2010
dbSNP: rs137853197
rs137853197
Entrez Id: 91624
Gene Symbol: NEXN
NEXN
CUI: C2751084
Disease:
Cardiomyopathy, Dilated, 1CC
0.800 GeneticVariation UNIPROT Nexilin mutations destabilize cardiac Z-disks and lead to dilated cardiomyopathy. 19881492 2009
dbSNP: rs137853198
rs137853198
Entrez Id: 91624
Gene Symbol: NEXN
NEXN
CUI: C2751084
Disease:
Cardiomyopathy, Dilated, 1CC
0.800 GeneticVariation UNIPROT Nexilin mutations destabilize cardiac Z-disks and lead to dilated cardiomyopathy. 19881492 2009
dbSNP: rs137853197
rs137853197
Entrez Id: 91624
Gene Symbol: NEXN
NEXN
CUI: C2751084
Disease:
Cardiomyopathy, Dilated, 1CC
G 0.800 CausalMutation CLINVAR
dbSNP: rs137853198
rs137853198
Entrez Id: 91624
Gene Symbol: NEXN
NEXN
CUI: C2751084
Disease:
Cardiomyopathy, Dilated, 1CC
A 0.800 CausalMutation CLINVAR
dbSNP: rs146245480
rs146245480
Entrez Id: 91624
Gene Symbol: NEXN
NEXN
CUI: C3151267
Disease:
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 20
T 0.800 CausalMutation CLINVAR
dbSNP: rs387907079
rs387907079
Entrez Id: 91624
Gene Symbol: NEXN
NEXN
CUI: C3151267
Disease:
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 20
G 0.800 CausalMutation CLINVAR
dbSNP: rs9661687
rs9661687
Entrez Id: 91624
Gene Symbol: NEXN
NEXN
CUI: C0016529
Disease:
Forced expiratory volume function
T 0.700 GeneticVariation GWASCAT New genetic signals for lung function highlight pathways and chronic obstructive pulmonary disease associations across multiple ancestries. 30804560 2019
dbSNP: rs9661687
rs9661687
Entrez Id: 91624
Gene Symbol: NEXN
NEXN
CUI: C1518922
Disease:
peak expiratory flow (procedure)
T 0.700 GeneticVariation GWASCAT New genetic signals for lung function highlight pathways and chronic obstructive pulmonary disease associations across multiple ancestries. 30804560 2019
dbSNP: rs137853197
rs137853197
Entrez Id: 91624
Gene Symbol: NEXN
NEXN
CUI: C0007193
Disease:
Cardiomyopathy, Dilated
G 0.700 GeneticVariation CLINVAR Nexilin mutations destabilize cardiac Z-disks and lead to dilated cardiomyopathy. 19881492 2009
dbSNP: rs137853197
rs137853197
Entrez Id: 91624
Gene Symbol: NEXN
NEXN
CUI: C1834481
Disease:
CARDIOMYOPATHY, DILATED, 1S
G 0.700 GeneticVariation CLINVAR
dbSNP: rs771262904
rs771262904
Entrez Id: 91624
Gene Symbol: NEXN
NEXN
CUI: C2751084
Disease:
Cardiomyopathy, Dilated, 1CC
T 0.700 GeneticVariation CLINVAR
dbSNP: rs114020893
rs114020893
Entrez Id: 91624;374987
Gene Symbol: NEXN;NEXN-AS1
NEXN;NEXN-AS1
CUI: C1306460
Disease:
Primary malignant neoplasm of lung
0.010 GeneticVariation BEFREE Our finding indicates that SNP rs114020893 of NEXN-AS1 at 1p31.1 may contribute to lung cancer susceptibility. 27713484 2016
dbSNP: rs114020893
rs114020893
Entrez Id: 91624;374987
Gene Symbol: NEXN;NEXN-AS1
NEXN;NEXN-AS1
CUI: C0684249
Disease:
Carcinoma of lung
0.010 GeneticVariation BEFREE Our finding indicates that SNP rs114020893 of NEXN-AS1 at 1p31.1 may contribute to lung cancer susceptibility. 27713484 2016
dbSNP: rs114020893
rs114020893
Entrez Id: 91624;374987
Gene Symbol: NEXN;NEXN-AS1
NEXN;NEXN-AS1
CUI: C0242379
Disease:
Malignant neoplasm of lung
0.010 GeneticVariation BEFREE Our finding indicates that SNP rs114020893 of NEXN-AS1 at 1p31.1 may contribute to lung cancer susceptibility. 27713484 2016
dbSNP: rs1780050
rs1780050
Entrez Id: 91624
Gene Symbol: NEXN
NEXN
CUI: C1956346
Disease:
Coronary Artery Disease
0.010 GeneticVariation BEFREE Further eQTL analysis demonstrated that the risk allele T of rs1780050 is associated with decreased expression of NEXN, thus contributing to a higher risk of CAD susceptibility in the population. 24349201 2013