DisGeNET - a database of gene-disease associations

ATXN1L, ataxin 1 like, 342371

N. diseases: 11; N. variants: 11

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:

rs2291947

Entrez Id:	9798;342371
Gene Symbol:	IST1;ATXN1L

IST1;ATXN1L

CUI:	C0523465
Disease:

Serum albumin measurement

0.700

GeneticVariation

GWASDB

Genome-wide association study identifies multiple loci influencing human serum metabolite levels.

22286219

2012

dbSNP:

rs2335711

Entrez Id:	9798;55565;342371
Gene Symbol:	IST1;ZNF821;ATXN1L

IST1;ZNF821;ATXN1L

CUI:	C0523465
Disease:

Serum albumin measurement

0.700

GeneticVariation

GWASDB

Genome-wide association study identifies multiple loci influencing human serum metabolite levels.

22286219

2012

dbSNP:

rs4538017

Entrez Id:	9798;55565;342371
Gene Symbol:	IST1;ZNF821;ATXN1L

IST1;ZNF821;ATXN1L

CUI:	C0523465
Disease:

Serum albumin measurement

0.700

GeneticVariation

GWASDB

Genome-wide association study identifies multiple loci influencing human serum metabolite levels.

22286219

2012

dbSNP:

rs4788563

Entrez Id:	342371
Gene Symbol:	ATXN1L

ATXN1L

CUI:	C0523465
Disease:

Serum albumin measurement

0.700

GeneticVariation

GWASDB

Genome-wide association study identifies multiple loci influencing human serum metabolite levels.

22286219

2012

dbSNP:

rs4788567

Entrez Id:	9798;55565;342371
Gene Symbol:	IST1;ZNF821;ATXN1L

IST1;ZNF821;ATXN1L

CUI:	C0523465
Disease:

Serum albumin measurement

0.700

GeneticVariation

GWASDB

Genome-wide association study identifies multiple loci influencing human serum metabolite levels.

22286219

2012

dbSNP:

rs55702379

Entrez Id:	9798;55565;342371
Gene Symbol:	IST1;ZNF821;ATXN1L

IST1;ZNF821;ATXN1L

CUI:	C0523465
Disease:

Serum albumin measurement

0.700

GeneticVariation

GWASDB

Genome-wide association study identifies multiple loci influencing human serum metabolite levels.

22286219

2012

dbSNP:

rs61747555

Entrez Id:	9798;342371
Gene Symbol:	IST1;ATXN1L

IST1;ATXN1L

CUI:	C0523465
Disease:

Serum albumin measurement

0.700

GeneticVariation

GWASDB

Genome-wide association study identifies multiple loci influencing human serum metabolite levels.

22286219

2012

dbSNP:

rs6499545

Entrez Id:	9798;342371
Gene Symbol:	IST1;ATXN1L

IST1;ATXN1L

CUI:	C0523465
Disease:

Serum albumin measurement

0.700

GeneticVariation

GWASDB

Genome-wide association study identifies multiple loci influencing human serum metabolite levels.

22286219

2012

dbSNP:

rs9936965

Entrez Id:	9798;55565;342371
Gene Symbol:	IST1;ZNF821;ATXN1L

IST1;ZNF821;ATXN1L

CUI:	C0523465
Disease:

Serum albumin measurement

0.700

GeneticVariation

GWASDB

Genome-wide association study identifies multiple loci influencing human serum metabolite levels.

22286219

2012

dbSNP:

rs9937626

Entrez Id:	9798;55565;342371
Gene Symbol:	IST1;ZNF821;ATXN1L

IST1;ZNF821;ATXN1L

CUI:	C0523465
Disease:

Serum albumin measurement

0.700

GeneticVariation

GWASDB

Genome-wide association study identifies multiple loci influencing human serum metabolite levels.

22286219

2012

dbSNP:

rs17850869

Entrez Id:	9798;55565;342371
Gene Symbol:	IST1;ZNF821;ATXN1L

IST1;ZNF821;ATXN1L

CUI:	C0024198
Disease:

Lyme Disease

0.010

GeneticVariation

BEFREE

In a first genome-wide association study (GWAS) approach to anti-Borrelia seropositivity, we identified two significant single nucleotide polymorphisms (SNPs) (rs17850869, P = 4.17E-09; rs41289586, P = 7.18E-08).

25730773

2015