Source: GENOMICS_ENGLAND

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 81570
Gene Symbol: CLPB
CLPB
CUI: C4225393
Disease: 3-methylglutaconic aciduria type 7
3-methylglutaconic aciduria type 7 		0.700 Biomarker 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
CUI: C4225393
Disease: 3-methylglutaconic aciduria type 7
3-methylglutaconic aciduria type 7 		0.700 Biomarker 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
CUI: C4225393
Disease: 3-methylglutaconic aciduria type 7
3-methylglutaconic aciduria type 7 		0.700 Biomarker 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
CUI: C4225393
Disease: 3-methylglutaconic aciduria type 7
3-methylglutaconic aciduria type 7 		0.700 Biomarker GENOMICS_ENGLAND