DisGeNET - a database of gene-disease associations

CFAP57, cilia and flagella associated protein 57, 149465

N. diseases: 4; N. variants: 2

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

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs150404479

Entrez Id:	10969;149465;105378685
Gene Symbol:	EBNA1BP2;CFAP57;LOC105378685

EBNA1BP2;CFAP57;LOC105378685

CUI:	C0005586
Disease:

Bipolar Disorder

0.700

GeneticVariation

GWASCAT

Genome-wide association study of bipolar disorder accounting for effect of body mass index identifies a new risk allele in TCF7L2.

24322204

2014

dbSNP:

rs150404479

Entrez Id:	10969;149465;105378685
Gene Symbol:	EBNA1BP2;CFAP57;LOC105378685

EBNA1BP2;CFAP57;LOC105378685

CUI:	C1305855
Disease:

Body mass index

0.700

GeneticVariation

GWASCAT

Genome-wide association study of bipolar disorder accounting for effect of body mass index identifies a new risk allele in TCF7L2.

24322204

2014

dbSNP:

rs621559

Entrez Id:	10969;149465;105378685
Gene Symbol:	EBNA1BP2;CFAP57;LOC105378685

EBNA1BP2;CFAP57;LOC105378685

CUI:	C0279626
Disease:

Squamous cell carcinoma of esophagus

0.020

GeneticVariation

BEFREE

Our previous data demonstrated that two SNPs (rs398652 on 14q21 and rs621559 on 1p34.2) were associated with LTL and risk of esophageal squamous cell carcinoma in Chinese.

24844311

2014

dbSNP:

rs621559

Entrez Id:	10969;149465;105378685
Gene Symbol:	EBNA1BP2;CFAP57;LOC105378685

EBNA1BP2;CFAP57;LOC105378685

CUI:	C0279626
Disease:

Squamous cell carcinoma of esophagus

0.020

GeneticVariation

BEFREE

It has been shown that both rs621559 and rs398652 polymorphisms were significantly associated with ESCC risk in additive, recessive or dominant genetic models.

23180556

2013

dbSNP:

rs621559

Entrez Id:	10969;149465;105378685
Gene Symbol:	EBNA1BP2;CFAP57;LOC105378685

EBNA1BP2;CFAP57;LOC105378685

CUI:	C0024623
Disease:

Malignant neoplasm of stomach

0.010

GeneticVariation

BEFREE

Interestingly, RTL-related rs621559 and rs398652 genetic variants are significantly associated with GC risk.

27797826

2017

dbSNP:

rs621559

Entrez Id:	10969;149465;105378685
Gene Symbol:	EBNA1BP2;CFAP57;LOC105378685

EBNA1BP2;CFAP57;LOC105378685

CUI:	C0699791
Disease:

Stomach Carcinoma

0.010

GeneticVariation

BEFREE

Interestingly, RTL-related rs621559 and rs398652 genetic variants are significantly associated with GC risk.

27797826

2017

dbSNP:

rs621559

Entrez Id:	10969;149465;105378685
Gene Symbol:	EBNA1BP2;CFAP57;LOC105378685

EBNA1BP2;CFAP57;LOC105378685

CUI:	C0017638
Disease:

Glioma

0.010

GeneticVariation

BEFREE

On the basis of analyzing 404 glioma patients and frequency-matched 820 controls, we found that subjects having the 1p34.2 rs621559 AG or GG genotype had an OR of 1.82 (95 % CI = 1.07-3.09, P = 0.026) or 2.12 (95 % CI = 1.26-3.56, P = 0.005) for developing glioma, respectively, compared with subjects having the rs621559 AA genotype.

24844311

2014

dbSNP:

rs621559

Entrez Id:	10969;149465;105378685
Gene Symbol:	EBNA1BP2;CFAP57;LOC105378685

EBNA1BP2;CFAP57;LOC105378685

CUI:	C2239176
Disease:

Liver carcinoma

0.010

GeneticVariation

BEFREE

We show, for the first time, that rs398652 and rs621559 might be marker genetic variants for risk of HBV-related HCC in the Chinese population.

25365256

2014