DisGeNET - a database of gene-disease associations

HLCS, holocarboxylase synthetase, 3141

N. diseases: 63; N. variants: 41

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:

rs119103227

Entrez Id:	3141
Gene Symbol:	HLCS

HLCS

CUI:	C0268581
Disease:

Holocarboxylase Synthetase Deficiency

0.800

GeneticVariation

UNIPROT

Severe neonatal holocarboxylase synthetase deficiency in west african siblings.

25690727

2015

dbSNP:

rs119103228

Entrez Id:	3141
Gene Symbol:	HLCS

HLCS

CUI:	C0268581
Disease:

Holocarboxylase Synthetase Deficiency

0.800

GeneticVariation

UNIPROT

Severe neonatal holocarboxylase synthetase deficiency in west african siblings.

25690727

2015

dbSNP:

rs119103229

Entrez Id:	3141
Gene Symbol:	HLCS

HLCS

CUI:	C0268581
Disease:

Holocarboxylase Synthetase Deficiency

0.800

GeneticVariation

UNIPROT

Severe neonatal holocarboxylase synthetase deficiency in west african siblings.

25690727

2015

dbSNP:

rs28934602

Entrez Id:	3141
Gene Symbol:	HLCS

HLCS

CUI:	C0268581
Disease:

Holocarboxylase Synthetase Deficiency

0.800

GeneticVariation

UNIPROT

Severe neonatal holocarboxylase synthetase deficiency in west african siblings.

25690727

2015

dbSNP:

rs769499327

Entrez Id:	3141
Gene Symbol:	HLCS

HLCS

CUI:	C0268581
Disease:

Holocarboxylase Synthetase Deficiency

0.800

GeneticVariation

UNIPROT

Severe neonatal holocarboxylase synthetase deficiency in west african siblings.

25690727

2015

dbSNP:

rs119103230

Entrez Id:	3141
Gene Symbol:	HLCS

HLCS

CUI:	C0268581
Disease:

Holocarboxylase Synthetase Deficiency

0.800

CausalMutation

CLINVAR

Holocarboxylase synthetase acts as a biotin-independent transcriptional repressor interacting with HDAC1, HDAC2 and HDAC7.

24239178

2014

dbSNP:

rs28934602

Entrez Id:	3141
Gene Symbol:	HLCS

HLCS

CUI:	C0268581
Disease:

Holocarboxylase Synthetase Deficiency

0.800

GeneticVariation

CLINVAR

Biochemical profiles were consistent with HLCS deficiency, and genetic analysis confirmed homozygosity for the L216R mutation.

24085707

2014

dbSNP:

rs119103227

Entrez Id:	3141
Gene Symbol:	HLCS

HLCS

CUI:	C0268581
Disease:

Holocarboxylase Synthetase Deficiency

0.800

GeneticVariation

CLINVAR

A novel molecular mechanism to explain biotin-unresponsive holocarboxylase synthetase deficiency.

21894551

2012

dbSNP:

rs119103229

Entrez Id:	3141
Gene Symbol:	HLCS

HLCS

CUI:	C0268581
Disease:

Holocarboxylase Synthetase Deficiency

0.800

CausalMutation

CLINVAR

The first reported HLCS gene mutation causing holocarboxylase synthetase deficiency in a Vietnamese patient.

21874615

2012

dbSNP:

rs28934602

Entrez Id:	3141
Gene Symbol:	HLCS

HLCS

CUI:	C0268581
Disease:

Holocarboxylase Synthetase Deficiency

0.800

GeneticVariation

CLINVAR

Effects of single-nucleotide polymorphisms in the human holocarboxylase synthetase gene on enzyme catalysis.

22027809

2012

dbSNP:

rs28934602

Entrez Id:	3141
Gene Symbol:	HLCS

HLCS

CUI:	C0268581
Disease:

Holocarboxylase Synthetase Deficiency

0.800

GeneticVariation

CLINVAR

A novel molecular mechanism to explain biotin-unresponsive holocarboxylase synthetase deficiency.

21894551

2012

dbSNP:

rs119103227

Entrez Id:	3141
Gene Symbol:	HLCS

HLCS

CUI:	C0268581
Disease:

Holocarboxylase Synthetase Deficiency

0.800

GeneticVariation

UNIPROT

Holocarboxylase synthetase deficiency: novel clinical and molecular findings.

20095979

2010

dbSNP:

rs119103228

Entrez Id:	3141
Gene Symbol:	HLCS

HLCS

CUI:	C0268581
Disease:

Holocarboxylase Synthetase Deficiency

0.800

GeneticVariation

UNIPROT

Holocarboxylase synthetase deficiency: novel clinical and molecular findings.

20095979

2010

dbSNP:

rs119103229

Entrez Id:	3141
Gene Symbol:	HLCS

HLCS

CUI:	C0268581
Disease:

Holocarboxylase Synthetase Deficiency

0.800

GeneticVariation

UNIPROT

Holocarboxylase synthetase deficiency: novel clinical and molecular findings.

20095979

2010

dbSNP:

rs119103229

Entrez Id:	3141
Gene Symbol:	HLCS

HLCS

CUI:	C0268581
Disease:

Holocarboxylase Synthetase Deficiency

0.800

CausalMutation

CLINVAR

The polypeptide Syn67 interacts physically with human holocarboxylase synthetase, but is not a target for biotinylation.

20026029

2010

dbSNP:

rs119103229

Entrez Id:	3141
Gene Symbol:	HLCS

HLCS

CUI:	C0268581
Disease:

Holocarboxylase Synthetase Deficiency

0.800

CausalMutation

CLINVAR

Holocarboxylase synthetase deficiency: novel clinical and molecular findings.

20095979

2010

dbSNP:

rs28934602

Entrez Id:	3141
Gene Symbol:	HLCS

HLCS

CUI:	C0268581
Disease:

Holocarboxylase Synthetase Deficiency

0.800

GeneticVariation

UNIPROT

Holocarboxylase synthetase deficiency: novel clinical and molecular findings.

20095979

2010

dbSNP:

rs769499327

Entrez Id:	3141
Gene Symbol:	HLCS

HLCS

CUI:	C0268581
Disease:

Holocarboxylase Synthetase Deficiency

0.800

GeneticVariation

UNIPROT

Holocarboxylase synthetase deficiency: novel clinical and molecular findings.

20095979

2010

dbSNP:

rs119103229

Entrez Id:	3141
Gene Symbol:	HLCS

HLCS

CUI:	C0268581
Disease:

Holocarboxylase Synthetase Deficiency

0.800

CausalMutation

CLINVAR

N- and C-terminal domains in human holocarboxylase synthetase participate in substrate recognition.

19157941

2009

dbSNP:

rs769499327

Entrez Id:	3141
Gene Symbol:	HLCS

HLCS

CUI:	C0268581
Disease:

Holocarboxylase Synthetase Deficiency

0.800

GeneticVariation

CLINVAR

[Diagnosis, treatment and gene mutation analysis in children with holocarboxylase synthetas deficiency].

19695181

2009

dbSNP:

rs28934602

Entrez Id:	3141
Gene Symbol:	HLCS

HLCS

CUI:	C0268581
Disease:

Holocarboxylase Synthetase Deficiency

0.800

GeneticVariation

CLINVAR

The molecular basis for the HLCS deficiency was further investigated by characterisation of the p.L216R protein.

18429047

2008

dbSNP:

rs119103227

Entrez Id:	3141
Gene Symbol:	HLCS

HLCS

CUI:	C0268581
Disease:

Holocarboxylase Synthetase Deficiency

0.800

GeneticVariation

UNIPROT

Mutations in the holocarboxylase synthetase gene HLCS.

16134170

2005

dbSNP:

rs119103228

Entrez Id:	3141
Gene Symbol:	HLCS

HLCS

CUI:	C0268581
Disease:

Holocarboxylase Synthetase Deficiency

0.800

GeneticVariation

UNIPROT

Mutations in the holocarboxylase synthetase gene HLCS.

16134170

2005

dbSNP:

rs119103229

Entrez Id:	3141
Gene Symbol:	HLCS

HLCS

CUI:	C0268581
Disease:

Holocarboxylase Synthetase Deficiency

0.800

GeneticVariation

UNIPROT

Mutations in the holocarboxylase synthetase gene HLCS.

16134170

2005

dbSNP:

rs119103229

Entrez Id:	3141
Gene Symbol:	HLCS

HLCS

CUI:	C0268581
Disease:

Holocarboxylase Synthetase Deficiency

0.800

CausalMutation

CLINVAR

First prenatal molecular diagnosis in a family with holocarboxylase synthetase deficiency.

16231399

2005