DisGeNET - a database of gene-disease associations

NANS, N-acetylneuraminate synthase, 54187

N. diseases: 153; 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:

rs140402727

Entrez Id:	9830;54187
Gene Symbol:	TRIM14;NANS

TRIM14;NANS

CUI:	C1864872
Disease:

Spondyloepimetaphyseal dysplasia, Genevieve type

0.800

GeneticVariation

UNIPROT

NANS-mediated synthesis of sialic acid is required for brain and skeletal development.

27213289

2016

dbSNP:

rs878852980

Entrez Id:	9830;54187
Gene Symbol:	TRIM14;NANS

TRIM14;NANS

CUI:	C1864872
Disease:

Spondyloepimetaphyseal dysplasia, Genevieve type

0.800

GeneticVariation

UNIPROT

NANS-mediated synthesis of sialic acid is required for brain and skeletal development.

27213289

2016

dbSNP:

rs878852981

Entrez Id:	9830;54187
Gene Symbol:	TRIM14;NANS

TRIM14;NANS

CUI:	C1864872
Disease:

Spondyloepimetaphyseal dysplasia, Genevieve type

0.800

GeneticVariation

UNIPROT

NANS-mediated synthesis of sialic acid is required for brain and skeletal development.

27213289

2016

dbSNP:

rs878852982

Entrez Id:	9830;54187
Gene Symbol:	TRIM14;NANS

TRIM14;NANS

CUI:	C1864872
Disease:

Spondyloepimetaphyseal dysplasia, Genevieve type

0.800

GeneticVariation

UNIPROT

NANS-mediated synthesis of sialic acid is required for brain and skeletal development.

27213289

2016

dbSNP:

rs140402727

Entrez Id:	9830;54187
Gene Symbol:	TRIM14;NANS

TRIM14;NANS

CUI:	C1864872
Disease:

Spondyloepimetaphyseal dysplasia, Genevieve type

0.800

CausalMutation

CLINVAR

dbSNP:

rs878852980

Entrez Id:	9830;54187
Gene Symbol:	TRIM14;NANS

TRIM14;NANS

CUI:	C1864872
Disease:

Spondyloepimetaphyseal dysplasia, Genevieve type

0.800

CausalMutation

CLINVAR

dbSNP:

rs878852981

Entrez Id:	9830;54187
Gene Symbol:	TRIM14;NANS

TRIM14;NANS

CUI:	C1864872
Disease:

Spondyloepimetaphyseal dysplasia, Genevieve type

0.800

CausalMutation

CLINVAR

dbSNP:

rs878852982

Entrez Id:	9830;54187
Gene Symbol:	TRIM14;NANS

TRIM14;NANS

CUI:	C1864872
Disease:

Spondyloepimetaphyseal dysplasia, Genevieve type

0.800

CausalMutation

CLINVAR

dbSNP:

rs1024025721

Entrez Id:	9830;54187
Gene Symbol:	TRIM14;NANS

TRIM14;NANS

CUI:	C1864872
Disease:

Spondyloepimetaphyseal dysplasia, Genevieve type

0.700

GeneticVariation

UNIPROT

NANS-mediated synthesis of sialic acid is required for brain and skeletal development.

27213289

2016

dbSNP:

rs1277263564

Entrez Id:	54187
Gene Symbol:	NANS

NANS

CUI:	C1864872
Disease:

Spondyloepimetaphyseal dysplasia, Genevieve type

0.700

GeneticVariation

UNIPROT

dbSNP:

rs779218846

Entrez Id:	9830;54187
Gene Symbol:	TRIM14;NANS

TRIM14;NANS

CUI:	C1864872
Disease:

Spondyloepimetaphyseal dysplasia, Genevieve type

0.700

CausalMutation

CLINVAR

dbSNP:

rs878853267

Entrez Id:	9830;54187
Gene Symbol:	TRIM14;NANS

TRIM14;NANS

CUI:	C1864872
Disease:

Spondyloepimetaphyseal dysplasia, Genevieve type

0.700

CausalMutation

CLINVAR

dbSNP:

rs878853268

Entrez Id:	9830;54187
Gene Symbol:	TRIM14;NANS

TRIM14;NANS

CUI:	C1864872
Disease:

Spondyloepimetaphyseal dysplasia, Genevieve type

ACAT

0.700

CausalMutation

CLINVAR

dbSNP:

rs879255602

Entrez Id:	9830;54187
Gene Symbol:	TRIM14;NANS

TRIM14;NANS

CUI:	C1864872
Disease:

Spondyloepimetaphyseal dysplasia, Genevieve type

ATGG

0.700

CausalMutation

CLINVAR

dbSNP:

rs3739670

Entrez Id:	54187
Gene Symbol:	NANS

NANS

CUI:	C0036341
Disease:

Schizophrenia

0.010

GeneticVariation

BEFREE

This study investigated whether the efficacy of aripiprazole can be predicted by functional HTR2A A-1438G/T102C polymorphisms (rs63311/rs6313) as modified by clinical factors in Han Chinese hospitalized patients with acutely exacerbated schizophrenia.

19387614

2009

dbSNP:

rs3739670

Entrez Id:	54187
Gene Symbol:	NANS

NANS

CUI:	C0011860
Disease:

Diabetes Mellitus, Non-Insulin-Dependent

0.010

GeneticVariation

BEFREE

The results of the present study reveal that the 102T/C OPRM1 gene polymorphism is associated with a better glucose tolerance and improved IS, both of which suggest a potential protective effect of this variant on T2DM risk.

18518884

2008