Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 81570
Gene Symbol: CLPB
CLPB 		0.700 CausalMutation disease CLINVAR A scoring system predicting the clinical course of CLPB defect based on the foetal and neonatal presentation of 31 patients. 28687938 2017
Entrez Id: 81570
Gene Symbol: CLPB
CLPB 		0.700 CausalMutation disease CLINVAR Genomic diagnosis for children with intellectual disability and/or developmental delay. 28554332 2017
Entrez Id: 81570
Gene Symbol: CLPB
CLPB 		0.700 CausalMutation disease CLINVAR Novel CLPB mutation in a patient with 3-methylglutaconic aciduria causing severe neurological involvement and congenital neutropenia. 26916670 2016
Entrez Id: 81570
Gene Symbol: CLPB
CLPB 		0.700 CausalMutation disease CLINVAR New perspective in diagnostics of mitochondrial disorders: two years' experience with whole-exome sequencing at a national paediatric centre. 27290639 2016
Entrez Id: 81570
Gene Symbol: CLPB
CLPB 		0.700 Biomarker disease GENOMICS_ENGLAND Novel CLPB mutation in a patient with 3-methylglutaconic aciduria causing severe neurological involvement and congenital neutropenia. 26916670 2016
Entrez Id: 81570
Gene Symbol: CLPB
CLPB 		0.700 CausalMutation disease CLINVAR Disruption of CLPB is associated with congenital microcephaly, severe encephalopathy and 3-methylglutaconic aciduria. 25650066 2015
Entrez Id: 81570
Gene Symbol: CLPB
CLPB 		0.700 CausalMutation disease CLINVAR Bi-allelic CLPB mutations cause cataract, renal cysts, nephrocalcinosis and 3-methylglutaconic aciduria, a novel disorder of mitochondrial protein disaggregation. 25595726 2015
Entrez Id: 81570
Gene Symbol: CLPB
CLPB 		0.700 GeneticVariation disease UNIPROT CLPB mutations cause 3-methylglutaconic aciduria, progressive brain atrophy, intellectual disability, congenital neutropenia, cataracts, movement disorder. 25597510 2015
Entrez Id: 81570
Gene Symbol: CLPB
CLPB 		0.700 Biomarker disease GENOMICS_ENGLAND CLPB mutations cause 3-methylglutaconic aciduria, progressive brain atrophy, intellectual disability, congenital neutropenia, cataracts, movement disorder. 25597510 2015
Entrez Id: 81570
Gene Symbol: CLPB
CLPB 		0.700 GermlineCausalMutation disease ORPHANET CLPB variants associated with autosomal-recessive mitochondrial disorder with cataract, neutropenia, epilepsy, and methylglutaconic aciduria. 25597511 2015
Entrez Id: 81570
Gene Symbol: CLPB
CLPB 		0.700 CausalMutation disease CLINVAR CLPB variants associated with autosomal-recessive mitochondrial disorder with cataract, neutropenia, epilepsy, and methylglutaconic aciduria. 25597511 2015
Entrez Id: 81570
Gene Symbol: CLPB
CLPB 		0.700 CausalMutation disease CLINVAR CLPB mutations cause 3-methylglutaconic aciduria, progressive brain atrophy, intellectual disability, congenital neutropenia, cataracts, movement disorder. 25597510 2015
Entrez Id: 81570
Gene Symbol: CLPB
CLPB 		0.700 GeneticVariation disease UNIPROT CLPB variants associated with autosomal-recessive mitochondrial disorder with cataract, neutropenia, epilepsy, and methylglutaconic aciduria. 25597511 2015
Entrez Id: 81570
Gene Symbol: CLPB
CLPB 		0.700 Biomarker disease GENOMICS_ENGLAND CLPB variants associated with autosomal-recessive mitochondrial disorder with cataract, neutropenia, epilepsy, and methylglutaconic aciduria. 25597511 2015
Entrez Id: 81570
Gene Symbol: CLPB
CLPB 		0.700 GermlineCausalMutation disease ORPHANET CLPB mutations cause 3-methylglutaconic aciduria, progressive brain atrophy, intellectual disability, congenital neutropenia, cataracts, movement disorder. 25597510 2015
Entrez Id: 81570
Gene Symbol: CLPB
CLPB 		0.700 GeneticVariation disease CLINVAR CLPB mutations cause 3-methylglutaconic aciduria, progressive brain atrophy, intellectual disability, congenital neutropenia, cataracts, movement disorder. 25597510 2015
Entrez Id: 81570
Gene Symbol: CLPB
CLPB 		0.700 Biomarker disease GENOMICS_ENGLAND
Entrez Id: 81570
Gene Symbol: CLPB
CLPB 		0.700 Biomarker disease CTD_human