DisGeNET - a database of gene-disease associations

UTP14C, UTP14C small subunit processome component, 9724

N. diseases: 6; N. variants: 5

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:

rs387907181

Entrez Id:	9724;440138
Gene Symbol:	UTP14C;ALG11

UTP14C;ALG11

CUI:	C3150913
Disease:

CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ip

0.800

GeneticVariation

UNIPROT

Improved diagnostics lead to identification of three new patients with congenital disorder of glycosylation-Ip.

22213132

2012

dbSNP:

rs387907182

Entrez Id:	9724;440138
Gene Symbol:	UTP14C;ALG11

UTP14C;ALG11

CUI:	C3150913
Disease:

CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ip

0.800

GeneticVariation

UNIPROT

Improved diagnostics lead to identification of three new patients with congenital disorder of glycosylation-Ip.

22213132

2012

dbSNP:

rs387907183

Entrez Id:	9724;440138
Gene Symbol:	UTP14C;ALG11

UTP14C;ALG11

CUI:	C3150913
Disease:

CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ip

0.800

GeneticVariation

UNIPROT

Improved diagnostics lead to identification of three new patients with congenital disorder of glycosylation-Ip.

22213132

2012

dbSNP:

rs387907184

Entrez Id:	9724;440138
Gene Symbol:	UTP14C;ALG11

UTP14C;ALG11

CUI:	C3150913
Disease:

CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ip

0.800

GeneticVariation

UNIPROT

Improved diagnostics lead to identification of three new patients with congenital disorder of glycosylation-Ip.

22213132

2012

dbSNP:

rs387907181

Entrez Id:	9724;440138
Gene Symbol:	UTP14C;ALG11

UTP14C;ALG11

CUI:	C3150913
Disease:

CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ip

0.800

GeneticVariation

UNIPROT

A severe human metabolic disease caused by deficiency of the endoplasmatic mannosyltransferase hALG11 leads to congenital disorder of glycosylation-Ip.

20080937

2010

dbSNP:

rs387907182

Entrez Id:	9724;440138
Gene Symbol:	UTP14C;ALG11

UTP14C;ALG11

CUI:	C3150913
Disease:

CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ip

0.800

GeneticVariation

UNIPROT

A severe human metabolic disease caused by deficiency of the endoplasmatic mannosyltransferase hALG11 leads to congenital disorder of glycosylation-Ip.

20080937

2010

dbSNP:

rs387907183

Entrez Id:	9724;440138
Gene Symbol:	UTP14C;ALG11

UTP14C;ALG11

CUI:	C3150913
Disease:

CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ip

0.800

GeneticVariation

UNIPROT

A severe human metabolic disease caused by deficiency of the endoplasmatic mannosyltransferase hALG11 leads to congenital disorder of glycosylation-Ip.

20080937

2010

dbSNP:

rs387907184

Entrez Id:	9724;440138
Gene Symbol:	UTP14C;ALG11

UTP14C;ALG11

CUI:	C3150913
Disease:

CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ip

0.800

GeneticVariation

UNIPROT

A severe human metabolic disease caused by deficiency of the endoplasmatic mannosyltransferase hALG11 leads to congenital disorder of glycosylation-Ip.

20080937

2010

dbSNP:

rs387907181

Entrez Id:	9724;440138
Gene Symbol:	UTP14C;ALG11

UTP14C;ALG11

CUI:	C3150913
Disease:

CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ip

0.800

CausalMutation

CLINVAR

dbSNP:

rs387907182

Entrez Id:	9724;440138
Gene Symbol:	UTP14C;ALG11

UTP14C;ALG11

CUI:	C3150913
Disease:

CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ip

0.800

CausalMutation

CLINVAR

dbSNP:

rs387907183

Entrez Id:	9724;440138
Gene Symbol:	UTP14C;ALG11

UTP14C;ALG11

CUI:	C3150913
Disease:

CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ip

0.800

CausalMutation

CLINVAR

dbSNP:

rs387907184

Entrez Id:	9724;440138
Gene Symbol:	UTP14C;ALG11

UTP14C;ALG11

CUI:	C3150913
Disease:

CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ip

0.800

CausalMutation

CLINVAR

dbSNP:

rs387907180

Entrez Id:	9724;440138
Gene Symbol:	UTP14C;ALG11

UTP14C;ALG11

CUI:	C3150913
Disease:

CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ip

0.700

CausalMutation

CLINVAR