DisGeNET - a database of gene-disease associations

3-methylglutaconic aciduria type 7, C4225393

Gene: CLPB ×

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:

rs144078282

CLPB

0.800

CausalMutation

CLINVAR

Genomic diagnosis for children with intellectual disability and/or developmental delay.

28554332

2017

dbSNP:

rs144078282

CLPB

0.800

CausalMutation

CLINVAR

A scoring system predicting the clinical course of CLPB defect based on the foetal and neonatal presentation of 31 patients.

28687938

2017

dbSNP:

rs144078282

CLPB

0.800

CausalMutation

CLINVAR

New perspective in diagnostics of mitochondrial disorders: two years' experience with whole-exome sequencing at a national paediatric centre.

27290639

2016

dbSNP:

rs777313457

CLPB

0.800

CausalMutation

CLINVAR

Novel CLPB mutation in a patient with 3-methylglutaconic aciduria causing severe neurological involvement and congenital neutropenia.

26916670

2016

dbSNP:

rs144078282

CLPB

0.800

GeneticVariation

CLINVAR

CLPB mutations cause 3-methylglutaconic aciduria, progressive brain atrophy, intellectual disability, congenital neutropenia, cataracts, movement disorder.

25597510

2015

dbSNP:

rs144078282

CLPB

0.800

CausalMutation

CLINVAR

CLPB mutations cause 3-methylglutaconic aciduria, progressive brain atrophy, intellectual disability, congenital neutropenia, cataracts, movement disorder.

25597510

2015

dbSNP:

rs150857620

CLPB

0.800

CausalMutation

CLINVAR

CLPB mutations cause 3-methylglutaconic aciduria, progressive brain atrophy, intellectual disability, congenital neutropenia, cataracts, movement disorder.

25597510

2015

dbSNP:

rs748915609

CLPB

0.800

CausalMutation

CLINVAR

CLPB mutations cause 3-methylglutaconic aciduria, progressive brain atrophy, intellectual disability, congenital neutropenia, cataracts, movement disorder.

25597510

2015

dbSNP:

rs759500860

CLPB

0.800

CausalMutation

CLINVAR

CLPB mutations cause 3-methylglutaconic aciduria, progressive brain atrophy, intellectual disability, congenital neutropenia, cataracts, movement disorder.

25597510

2015

dbSNP:

rs777313457

CLPB

0.800

CausalMutation

CLINVAR

CLPB mutations cause 3-methylglutaconic aciduria, progressive brain atrophy, intellectual disability, congenital neutropenia, cataracts, movement disorder.

25597510

2015

dbSNP:

rs200203460

CLPB

0.700

CausalMutation

CLINVAR

A scoring system predicting the clinical course of CLPB defect based on the foetal and neonatal presentation of 31 patients.

28687938

2017

dbSNP:

rs200203460

CLPB

0.700

CausalMutation

CLINVAR

New perspective in diagnostics of mitochondrial disorders: two years' experience with whole-exome sequencing at a national paediatric centre.

27290639

2016

dbSNP:

rs886041117

CLPB

0.700

CausalMutation

CLINVAR

Novel CLPB mutation in a patient with 3-methylglutaconic aciduria causing severe neurological involvement and congenital neutropenia.

26916670

2016

dbSNP:

rs200203460

CLPB

0.700

CausalMutation

CLINVAR

CLPB variants associated with autosomal-recessive mitochondrial disorder with cataract, neutropenia, epilepsy, and methylglutaconic aciduria.

25597511

2015

dbSNP:

rs200203460

CLPB

0.700

CausalMutation

CLINVAR

CLPB mutations cause 3-methylglutaconic aciduria, progressive brain atrophy, intellectual disability, congenital neutropenia, cataracts, movement disorder.

25597510

2015

dbSNP:

rs375934856

CLPB

0.700

CausalMutation

CLINVAR

Bi-allelic CLPB mutations cause cataract, renal cysts, nephrocalcinosis and 3-methylglutaconic aciduria, a novel disorder of mitochondrial protein disaggregation.

25595726

2015

dbSNP:

rs748010262

CLPB

0.700

CausalMutation

CLINVAR

CLPB mutations cause 3-methylglutaconic aciduria, progressive brain atrophy, intellectual disability, congenital neutropenia, cataracts, movement disorder.

25597510

2015

dbSNP:

rs777202372

CLPB

0.700

CausalMutation

CLINVAR

CLPB mutations cause 3-methylglutaconic aciduria, progressive brain atrophy, intellectual disability, congenital neutropenia, cataracts, movement disorder.

25597510

2015

dbSNP:

rs786205137

CLPB

0.700

CausalMutation

CLINVAR

CLPB mutations cause 3-methylglutaconic aciduria, progressive brain atrophy, intellectual disability, congenital neutropenia, cataracts, movement disorder.

25597510

2015

dbSNP:

rs786205138

CLPB

0.700

CausalMutation

CLINVAR

CLPB mutations cause 3-methylglutaconic aciduria, progressive brain atrophy, intellectual disability, congenital neutropenia, cataracts, movement disorder.

25597510

2015

dbSNP:

rs786205139

CLPB

0.700

CausalMutation

CLINVAR

CLPB variants associated with autosomal-recessive mitochondrial disorder with cataract, neutropenia, epilepsy, and methylglutaconic aciduria.

25597511

2015

dbSNP:

rs876657402

CLPB

0.700

CausalMutation

CLINVAR

Disruption of CLPB is associated with congenital microcephaly, severe encephalopathy and 3-methylglutaconic aciduria.

25650066

2015

dbSNP:

rs886041118

CLPB

0.700

CausalMutation

CLINVAR

CLPB mutations cause 3-methylglutaconic aciduria, progressive brain atrophy, intellectual disability, congenital neutropenia, cataracts, movement disorder.

25597510

2015

dbSNP:

rs886041119

CLPB

0.700

CausalMutation

CLINVAR

CLPB mutations cause 3-methylglutaconic aciduria, progressive brain atrophy, intellectual disability, congenital neutropenia, cataracts, movement disorder.

25597510

2015

dbSNP:

rs886041120

CLPB

0.700

CausalMutation

CLINVAR

CLPB mutations cause 3-methylglutaconic aciduria, progressive brain atrophy, intellectual disability, congenital neutropenia, cataracts, movement disorder.

25597510

2015