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

Structure of human holocarboxylase synthetase gene and mutation spectrum of holocarboxylase synthetase deficiency.

11735028

2001

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:

rs119103227

Entrez Id:	3141
Gene Symbol:	HLCS

HLCS

CUI:	C0268581
Disease:

Holocarboxylase Synthetase Deficiency

0.800

GeneticVariation

UNIPROT

Characterization of mutant holocarboxylase synthetase (HCS): a Km for biotin was not elevated in a patient with HCS deficiency.

9396568

1997

dbSNP:

rs119103227

Entrez Id:	3141
Gene Symbol:	HLCS

HLCS

CUI:	C0268581
Disease:

Holocarboxylase Synthetase Deficiency

0.800

GeneticVariation

UNIPROT

Clustering of mutations in the biotin-binding region of holocarboxylase synthetase in biotin-responsive multiple carboxylase deficiency.

8817339

1996

dbSNP:

rs119103227

Entrez Id:	3141
Gene Symbol:	HLCS

HLCS

CUI:	C0268581
Disease:

Holocarboxylase Synthetase Deficiency

0.800

GeneticVariation

UNIPROT

Identification and characterization of mutations in patients with holocarboxylase synthetase deficiency.

10190325

1999

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:

rs119103227

Entrez Id:	3141
Gene Symbol:	HLCS

HLCS

CUI:	C0268581
Disease:

Holocarboxylase Synthetase Deficiency

0.800

GeneticVariation

UNIPROT

Molecular analysis of holocarboxylase synthetase deficiency: a missense mutation and a single base deletion are predominant in Japanese patients.

8541348

1995

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:

rs119103227

Entrez Id:	3141
Gene Symbol:	HLCS

HLCS

CUI:	C0268581
Disease:

Holocarboxylase Synthetase Deficiency

0.800

GeneticVariation

UNIPROT

A genomic approach to mutation analysis of holocarboxylase synthetase gene in three Chinese patients with late-onset holocarboxylase synthetase deficiency.

12633764

2003

dbSNP:

rs119103227

Entrez Id:	3141
Gene Symbol:	HLCS

HLCS

CUI:	C0268581
Disease:

Holocarboxylase Synthetase Deficiency

0.800

GeneticVariation

UNIPROT

Clinical findings and biochemical and molecular analysis of four patients with holocarboxylase synthetase deficiency.

12124727

2002

dbSNP:

rs119103227

Entrez Id:	3141
Gene Symbol:	HLCS

HLCS

CUI:	C0268581
Disease:

Holocarboxylase Synthetase Deficiency

0.800

GeneticVariation

UNIPROT

Isolation and characterization of mutations in the human holocarboxylase synthetase cDNA.

7842009

1994

dbSNP:

rs119103227

Entrez Id:	3141
Gene Symbol:	HLCS

HLCS

CUI:	C0268581
Disease:

Holocarboxylase Synthetase Deficiency

0.800

GeneticVariation

UNIPROT

Relationship between kinetic properties of mutant enzyme and biochemical and clinical responsiveness to biotin in holocarboxylase synthetase deficiency.

10590022

1999

dbSNP:

rs119103228

Entrez Id:	3141
Gene Symbol:	HLCS

HLCS

CUI:	C0268581
Disease:

Holocarboxylase Synthetase Deficiency

0.800

GeneticVariation

UNIPROT

Structure of human holocarboxylase synthetase gene and mutation spectrum of holocarboxylase synthetase deficiency.

11735028

2001

dbSNP:

rs119103228

Entrez Id:	3141
Gene Symbol:	HLCS

HLCS

CUI:	C0268581
Disease:

Holocarboxylase Synthetase Deficiency

0.800

GeneticVariation

UNIPROT

Characterization of mutant holocarboxylase synthetase (HCS): a Km for biotin was not elevated in a patient with HCS deficiency.

9396568

1997

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:

rs119103228

Entrez Id:	3141
Gene Symbol:	HLCS

HLCS

CUI:	C0268581
Disease:

Holocarboxylase Synthetase Deficiency

0.800

GeneticVariation

UNIPROT

Isolation and characterization of mutations in the human holocarboxylase synthetase cDNA.

7842009

1994

dbSNP:

rs119103228

Entrez Id:	3141
Gene Symbol:	HLCS

HLCS

CUI:	C0268581
Disease:

Holocarboxylase Synthetase Deficiency

0.800

GeneticVariation

UNIPROT

Clustering of mutations in the biotin-binding region of holocarboxylase synthetase in biotin-responsive multiple carboxylase deficiency.

8817339

1996

dbSNP:

rs119103228

Entrez Id:	3141
Gene Symbol:	HLCS

HLCS

CUI:	C0268581
Disease:

Holocarboxylase Synthetase Deficiency

0.800

GeneticVariation

UNIPROT

Identification and characterization of mutations in patients with holocarboxylase synthetase deficiency.

10190325

1999

dbSNP:

rs119103228

Entrez Id:	3141
Gene Symbol:	HLCS

HLCS

CUI:	C0268581
Disease:

Holocarboxylase Synthetase Deficiency

0.800

GeneticVariation

UNIPROT

Relationship between kinetic properties of mutant enzyme and biochemical and clinical responsiveness to biotin in holocarboxylase synthetase deficiency.

10590022

1999

dbSNP:

rs119103228

Entrez Id:	3141
Gene Symbol:	HLCS

HLCS

CUI:	C0268581
Disease:

Holocarboxylase Synthetase Deficiency

0.800

GeneticVariation

UNIPROT

Molecular analysis of holocarboxylase synthetase deficiency: a missense mutation and a single base deletion are predominant in Japanese patients.

8541348

1995

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:

rs119103228

Entrez Id:	3141
Gene Symbol:	HLCS

HLCS

CUI:	C0268581
Disease:

Holocarboxylase Synthetase Deficiency

0.800

GeneticVariation

UNIPROT

Clinical findings and biochemical and molecular analysis of four patients with holocarboxylase synthetase deficiency.

12124727

2002

dbSNP:

rs119103228

Entrez Id:	3141
Gene Symbol:	HLCS

HLCS

CUI:	C0268581
Disease:

Holocarboxylase Synthetase Deficiency

0.800

GeneticVariation

UNIPROT

A genomic approach to mutation analysis of holocarboxylase synthetase gene in three Chinese patients with late-onset holocarboxylase synthetase deficiency.

12633764

2003

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

Relationship between kinetic properties of mutant enzyme and biochemical and clinical responsiveness to biotin in holocarboxylase synthetase deficiency.

10590022

1999