rs200203460, CLPB

N. diseases: 9
Disease: 3-methylglutaconic aciduria type 7 ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
3-methylglutaconic aciduria type 7
CUI: C4225393
Disease: 3-methylglutaconic aciduria type 7
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
3-methylglutaconic aciduria type 7
CUI: C4225393
Disease: 3-methylglutaconic aciduria type 7
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
3-methylglutaconic aciduria type 7
CUI: C4225393
Disease: 3-methylglutaconic aciduria type 7
0.700 CausalMutation CLINVAR CLPB mutations cause 3-methylglutaconic aciduria, progressive brain atrophy, intellectual disability, congenital neutropenia, cataracts, movement disorder. 25597510 2015
3-methylglutaconic aciduria type 7
CUI: C4225393
Disease: 3-methylglutaconic aciduria type 7
0.700 CausalMutation CLINVAR CLPB variants associated with autosomal-recessive mitochondrial disorder with cataract, neutropenia, epilepsy, and methylglutaconic aciduria. 25597511 2015