DisGeNET - a database of gene-disease associations

Biotinidase Deficiency, C0220754

Variant: rs80338685 ×

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

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs80338685

BTD

0.800

CausalMutation

CLINVAR

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

28498829

2017

dbSNP:

rs80338685

BTD

0.800

CausalMutation

CLINVAR

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

27657684

2017

dbSNP:

rs80338685

BTD

0.800

CausalMutation

CLINVAR

Forty-eight novel mutations causing biotinidase deficiency.

26810761

2016

dbSNP:

rs80338685

BTD

0.800

CausalMutation

CLINVAR

Neonatal screening for profound biotinidase deficiency in the Netherlands: consequences and considerations.

27329734

2016

dbSNP:

rs80338685

BTD

0.800

CausalMutation

CLINVAR

Mutations in BTD gene causing biotinidase deficiency: a regional report.

25423671

2015

dbSNP:

rs80338685

BTD

0.800

CausalMutation

CLINVAR

Biotinidase deficiency: Spectrum of molecular, enzymatic and clinical information from newborn screening Ontario, Canada (2007-2014).

26361991

2015

dbSNP:

rs80338685

BTD

0.800

CausalMutation

CLINVAR

Detection of biotinidase gene mutations in Turkish patients ascertained by newborn and family screening.

25754625

2015

dbSNP:

rs80338685

BTD

0.800

CausalMutation

CLINVAR

Novel mutations causing biotinidase deficiency in individuals identified by newborn screening in Michigan including an unique intronic mutation that alters mRNA expression of the biotinidase gene.

24797656

2014

dbSNP:

rs80338685

BTD

0.800

CausalMutation

CLINVAR

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

23644139

2013

dbSNP:

rs80338685

BTD

0.800

CausalMutation

CLINVAR

Increased incidence of profound biotinidase deficiency among Hispanic newborns in California.

22698809

2012

dbSNP:

rs80338685

BTD

0.800

CausalMutation

CLINVAR

Profound biotinidase deficiency: a rare disease among native Swedes.

20224900

2010

dbSNP:

rs80338685

BTD

0.800

CausalMutation

CLINVAR

Mutations causing biotinidase deficiency in children ascertained by newborn screening in Western Hungary.

17185019

2007

dbSNP:

rs80338685

BTD

0.800

CausalMutation

CLINVAR

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

11313766

2001

dbSNP:

rs80338685

BTD

0.800

CausalMutation

CLINVAR

Novel mutations cause biotinidase deficiency in Turkish children.

10801053

2000

dbSNP:

rs80338685

BTD

0.800

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:

rs80338685

BTD

0.800

CausalMutation

CLINVAR

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

9654207

1998

dbSNP:

rs80338685

BTD

0.800

CausalMutation

CLINVAR

Mutation (Q456H) is the most common cause of profound biotinidase deficiency in children ascertained by newborn screening in the United States.

9232193

1997

dbSNP:

rs80338685

BTD

0.800

CausalMutation

CLINVAR

Profound biotinidase deficiency in two asymptomatic adults.

9375914

1997