DisGeNET - a database of gene-disease associations

BTD, biotinidase, 686

N. diseases: 3; N. variants: 186

Source: CLINVAR ×

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:

rs13078881

Entrez Id:	686
Gene Symbol:	BTD

BTD

CUI:	C0220754
Disease:

Biotinidase Deficiency

0.860

CausalMutation

CLINVAR

Optic neuropathy due to biotinidase deficiency in a 19-year-old man.

24525934

2014

dbSNP:

rs13078881

Entrez Id:	686
Gene Symbol:	BTD

BTD

CUI:	C0220754
Disease:

Biotinidase Deficiency

0.860

CausalMutation

CLINVAR

Disease variants in genomes of 44 centenarians.

25333069

2014

dbSNP:

rs13078881

Entrez Id:	686
Gene Symbol:	BTD

BTD

CUI:	C0220754
Disease:

Biotinidase Deficiency

0.860

CausalMutation

CLINVAR

Pathogenic variants for Mendelian and complex traits in exomes of 6,517 European and African Americans: implications for the return of incidental results.

25087612

2014

dbSNP:

rs13078881

Entrez Id:	686
Gene Symbol:	BTD

BTD

CUI:	C0220754
Disease:

Biotinidase Deficiency

0.860

CausalMutation

CLINVAR

An empirical estimate of carrier frequencies for 400+ causal Mendelian variants: results from an ethnically diverse clinical sample of 23,453 individuals.

22975760

2013

dbSNP:

rs13078881

Entrez Id:	686
Gene Symbol:	BTD

BTD

CUI:	C0220754
Disease:

Biotinidase Deficiency

0.860

CausalMutation

CLINVAR

An informatics approach to analyzing the incidentalome.

22995991

2013

dbSNP:

rs13078881

Entrez Id:	686
Gene Symbol:	BTD

BTD

CUI:	C0220754
Disease:

Biotinidase Deficiency

0.860

CausalMutation

CLINVAR

High incidence of partial biotinidase deficiency cases in newborns of Greek origin.

23644139

2013

dbSNP:

rs13078881

Entrez Id:	686
Gene Symbol:	BTD

BTD

CUI:	C0220754
Disease:

Biotinidase Deficiency

0.860

CausalMutation

CLINVAR

Carrier testing for severe childhood recessive diseases by next-generation sequencing.

21228398

2011

dbSNP:

rs13078881

Entrez Id:	686
Gene Symbol:	BTD

BTD

CUI:	C0220754
Disease:

Biotinidase Deficiency

0.860

CausalMutation

CLINVAR

Analysis of mutations causing biotinidase deficiency.

20556795

2010

dbSNP:

rs13078881

Entrez Id:	686
Gene Symbol:	BTD

BTD

CUI:	C0220754
Disease:

Biotinidase Deficiency

0.860

CausalMutation

CLINVAR

A map of human genome variation from population-scale sequencing.

20981092

2010

dbSNP:

rs13078881

Entrez Id:	686
Gene Symbol:	BTD

BTD

CUI:	C0220754
Disease:

Biotinidase Deficiency

0.860

CausalMutation

CLINVAR

Technical standards and guidelines for the diagnosis of biotinidase deficiency.

20539236

2010

dbSNP:

rs13078881

Entrez Id:	686
Gene Symbol:	BTD

BTD

CUI:	C0220754
Disease:

Biotinidase Deficiency

0.860

CausalMutation

CLINVAR

High frequencies of biotinidase (BTD) gene mutations in the Hungarian population.

20549359

2010

dbSNP:

rs13078881

Entrez Id:	686
Gene Symbol:	BTD

BTD

CUI:	C0220754
Disease:

Biotinidase Deficiency

0.860

CausalMutation

CLINVAR

Biotinidase deficiency: novel mutations and their biochemical and clinical correlates.

15776412

2005

dbSNP:

rs13078881

Entrez Id:	686
Gene Symbol:	BTD

BTD

CUI:	C0220754
Disease:

Biotinidase Deficiency

0.860

CausalMutation

CLINVAR

Molecular characterisation and neuropsychological outcome of 21 patients with profound biotinidase deficiency detected by newborn screening and family studies.

14628140

2003

dbSNP:

rs13078881

Entrez Id:	686
Gene Symbol:	BTD

BTD

CUI:	C0220754
Disease:

Biotinidase Deficiency

0.860

CausalMutation

CLINVAR

Real time PCR assays to detect common mutations in the biotinidase gene and application of mutational analysis to newborn screening for biotinidase deficiency.

12618081

2003

dbSNP:

rs13078881

Entrez Id:	686
Gene Symbol:	BTD

BTD

CUI:	C0220754
Disease:

Biotinidase Deficiency

0.860

CausalMutation

CLINVAR

Two new mutations in children affected by partial biotinidase deficiency ascertained by newborn screening.

12227467

2002

dbSNP:

rs13078881

Entrez Id:	686
Gene Symbol:	BTD

BTD

CUI:	C0220754
Disease:

Biotinidase Deficiency

0.860

CausalMutation

CLINVAR

Molecular characterisation of 34 patients with biotinidase deficiency ascertained by newborn screening and family investigation.

11313766

2001

dbSNP:

rs13078881

Entrez Id:	686
Gene Symbol:	BTD

BTD

CUI:	C0220754
Disease:

Biotinidase Deficiency

0.860

CausalMutation

CLINVAR

Novel mutations cause biotinidase deficiency in Turkish children.

10801053

2000

dbSNP:

rs13078881

Entrez Id:	686
Gene Symbol:	BTD

BTD

CUI:	C0220754
Disease:

Biotinidase Deficiency

0.860

CausalMutation

CLINVAR

Mutations causing profound biotinidase deficiency in children ascertained by newborn screening in the United States occur at different frequencies than in symptomatic children.

10400129

1999

dbSNP:

rs13078881

Entrez Id:	686
Gene Symbol:	BTD

BTD

CUI:	C0220754
Disease:

Biotinidase Deficiency

0.860

CausalMutation

CLINVAR

Double mutation (A171T and D444H) is a common cause of profound biotinidase deficiency in children ascertained by newborn screening the the United States. Mutations in brief no. 128. Online.

10206677

1998

dbSNP:

rs13078881

Entrez Id:	686
Gene Symbol:	BTD

BTD

CUI:	C0220754
Disease:

Biotinidase Deficiency

0.860

CausalMutation

CLINVAR

Partial biotinidase deficiency is usually due to the D444H mutation in the biotinidase gene.

9654207

1998

dbSNP:

rs13078881

Entrez Id:	686
Gene Symbol:	BTD

BTD

CUI:	C0220754
Disease:

Biotinidase Deficiency

0.860

GeneticVariation

CLINVAR

dbSNP:

rs13073139

Entrez Id:	686
Gene Symbol:	BTD

BTD

CUI:	C0220754
Disease:

Biotinidase Deficiency

0.800

CausalMutation

CLINVAR

Biotinidase deficiency: Genotype-biochemical phenotype association in Brazilian patients.

28498829

2017

dbSNP:

rs80338685

Entrez Id:	686
Gene Symbol:	BTD

BTD

CUI:	C0220754
Disease:

Biotinidase Deficiency

0.800

CausalMutation

CLINVAR

Biotinidase deficiency: Genotype-biochemical phenotype association in Brazilian patients.

28498829

2017

dbSNP:

rs80338685

Entrez Id:	686
Gene Symbol:	BTD

BTD

CUI:	C0220754
Disease:

Biotinidase Deficiency

0.800

CausalMutation

CLINVAR

Successful outcomes of older adolescents and adults with profound biotinidase deficiency identified by newborn screening.

27657684

2017

dbSNP:

rs80338686

Entrez Id:	686
Gene Symbol:	BTD

BTD

CUI:	C0220754
Disease:

Biotinidase Deficiency

0.800

CausalMutation

CLINVAR

Biotinidase deficiency mimicking neuromyelitis optica beginning at the age of 4: A treatable disease.

27207447

2017