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GENE - TERM ANNOTATION REPORT

CRRD ID: 731315
Species: Homo sapiens
CRRD Object: Gene
Symbol: CLPB
Name: caseinolytic mitochondrial matrix peptidase chaperone subunit B
Acc ID: DOID:0110003
Term: 3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia
Definition: An autosomal recessive inborn error of metabolism characterized primarily by increased levels of 3-methylglutaconic acid (3-MGA) associated with neurologic deterioration and neutropenia. (OMIM)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/25597510
Note: Use of the qualifier "multiple interactions" designates that the annotated interaction is comprised of a complex set of reactions and/or regulatory events, possibly involving additional chemicals and/or gene products.
QualifierEvidenceWithReferenceSourceNotesOriginal Reference(s)
 IAGP 7240710OMIM  
 IAGPRGD:100474458554872ClinVarClinVar Annotator: match by term: 3-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia

PMID:25650066
 IAGPRGD:113507358554872ClinVarClinVar Annotator: match by term: 3-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia

PMID:25741868, PMID:28492532
 IAGPRGD:115679958554872ClinVarClinVar Annotator: match by term: 3-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia

PMID:25595726
 IAGPRGD:115679968554872ClinVarClinVar Annotator: match by term: 3-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia

PMID:25597510
 IAGPRGD:115679998554872ClinVarClinVar Annotator: match by term: 3-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia

PMID:26916670
 IAGPRGD:115680038554872ClinVarClinVar Annotator: match by term: 3-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia

PMID:25597510, PMID:26916670
 IAGPRGD:115680048554872ClinVarClinVar Annotator: match by term: 3-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia

PMID:25597510
 IAGPRGD:115680058554872ClinVarClinVar Annotator: match by term: 3-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia

PMID:25597510
 IAGPRGD:115680078554872ClinVarClinVar Annotator: match by term: 3-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia

PMID:25597510
 IAGPRGD:115680118554872ClinVarClinVar Annotator: match by term: 3-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia

PMID:25597510
 IAGPRGD:115680138554872ClinVarClinVar Annotator: match by term: 3-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia

PMID:25595726, PMID:25741868, PMID:28492532
 IAGPRGD:115680168554872ClinVarClinVar Annotator: match by term: 3-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia

PMID:25597510
 IAGPRGD:128345698554872ClinVarClinVar Annotator: match by term: 3-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia

PMID:28492532
 IAGPRGD:128356238554872ClinVarClinVar Annotator: match by term: 3-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia

PMID:28492532
 IAGPRGD:128377398554872ClinVarClinVar Annotator: match by term: 3-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia

PMID:28492532
 IAGPRGD:128441938554872ClinVarClinVar Annotator: match by term: 3-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia

PMID:28492532
 IAGPRGD:128471688554872ClinVarClinVar Annotator: match by term: 3-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia

PMID:28492532
 IAGPRGD:128475548554872ClinVarClinVar Annotator: match by term: 3-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia

PMID:28492532
 IAGPRGD:128478658554872ClinVarClinVar Annotator: match by term: 3-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia

PMID:28492532
 IAGPRGD:134832848554872ClinVarClinVar Annotator: match by term: 3-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia

PMID:28492532
 IAGPRGD:134846358554872ClinVarClinVar Annotator: match by term: 3-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia

PMID:28492532
 IAGPRGD:134849398554872ClinVarClinVar Annotator: match by term: 3-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia

PMID:28492532
 IAGPRGD:134862818554872ClinVarClinVar Annotator: match by term: 3-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia

PMID:28492532
 IAGPRGD:134904588554872ClinVarClinVar Annotator: match by term: 3-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia

PMID:28492532
 IAGPRGD:135222518554872ClinVarClinVar Annotator: match by term: 3-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia

 
 IAGPRGD:136253168554872ClinVarClinVar Annotator: match by term: 3-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia

PMID:28492532
 IAGPRGD:136253178554872ClinVarClinVar Annotator: match by term: 3-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia

PMID:28492532
 IAGPRGD:136253188554872ClinVarClinVar Annotator: match by term: 3-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia

PMID:28492532
 IAGPRGD:136253198554872ClinVarClinVar Annotator: match by term: 3-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia

PMID:28492532
 IAGPRGD:136253208554872ClinVarClinVar Annotator: match by term: 3-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia

PMID:28492532
 IAGPRGD:138013088554872ClinVarClinVar Annotator: match by term: 3-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia

PMID:28492532
 IAGPRGD:138025798554872ClinVarClinVar Annotator: match by term: 3-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia

PMID:28492532
 IAGPRGD:138071808554872ClinVarClinVar Annotator: match by term: 3-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia

PMID:28492532
 IAGPRGD:138095698554872ClinVarClinVar Annotator: match by term: 3-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia

PMID:28492532
 IAGPRGD:138122378554872ClinVarClinVar Annotator: match by term: 3-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia

PMID:28492532
 IAGPRGD:138159768554872ClinVarClinVar Annotator: match by term: 3-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia

PMID:28492532
 IAGPRGD:138159788554872ClinVarClinVar Annotator: match by term: 3-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia

PMID:28492532
 IAGPRGD:138164618554872ClinVarClinVar Annotator: match by term: 3-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia

PMID:28492532
 IAGPRGD:138172318554872ClinVarClinVar Annotator: match by term: 3-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia

PMID:28492532
 IAGPRGD:138180268554872ClinVarClinVar Annotator: match by term: 3-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia

PMID:28492532
 IAGPRGD:138181198554872ClinVarClinVar Annotator: match by term: 3-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia

PMID:28492532
 IAGPRGD:138183788554872ClinVarClinVar Annotator: match by term: 3-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia

PMID:28492532
 IAGPRGD:138198958554872ClinVarClinVar Annotator: match by term: 3-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia

PMID:28492532
 IAGPRGD:138218098554872ClinVarClinVar Annotator: match by term: 3-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia

PMID:28492532
 IAGPRGD:147019328554872ClinVarClinVar Annotator: match by term: 3-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia

PMID:28492532
 IAGPRGD:147071948554872ClinVarClinVar Annotator: match by term: 3-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia

PMID:28492532
 IAGPRGD:147102858554872ClinVarClinVar Annotator: match by term: 3-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia

PMID:28492532
 IAGPRGD:147140468554872ClinVarClinVar Annotator: match by term: 3-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia

PMID:28492532
 IAGPRGD:147143358554872ClinVarClinVar Annotator: match by term: 3-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia

PMID:28492532
 IAGPRGD:147183278554872ClinVarClinVar Annotator: match by term: 3-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia

PMID:28492532
 IAGPRGD:147200458554872ClinVarClinVar Annotator: match by term: 3-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia

PMID:28492532
 IAGPRGD:147200998554872ClinVarClinVar Annotator: match by term: 3-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia

PMID:28492532
 IAGPRGD:147205298554872ClinVarClinVar Annotator: match by term: 3-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia

PMID:28492532
 IAGPRGD:147238368554872ClinVarClinVar Annotator: match by term: 3-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia

PMID:28492532
 IAGPRGD:147251248554872ClinVarClinVar Annotator: match by term: 3-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia

PMID:28492532
 IAGPRGD:147277448554872ClinVarClinVar Annotator: match by term: 3-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia

PMID:28492532
 IAGPRGD:147283908554872ClinVarClinVar Annotator: match by term: 3-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia

PMID:28492532
 IAGPRGD:147297698554872ClinVarClinVar Annotator: match by term: 3-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia

PMID:28492532
 IAGPRGD:147319908554872ClinVarClinVar Annotator: match by term: 3-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia

PMID:28492532
 IAGPRGD:147413148554872ClinVarClinVar Annotator: match by term: 3-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia

PMID:28492532
 IAGPRGD:147428618554872ClinVarClinVar Annotator: match by term: 3-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia

PMID:28492532
 IAGPRGD:147440188554872ClinVarClinVar Annotator: match by term: 3-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia

PMID:28492532
 IAGPRGD:98546168554872ClinVarClinVar Annotator: match by term: 3-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia

PMID:25597510
 IAGPRGD:98546178554872ClinVarClinVar Annotator: match by term: 3-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia

PMID:25597510
 IAGPRGD:98546188554872ClinVarClinVar Annotator: match by term: 3-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia

PMID:25597510
 IAGPRGD:98546198554872ClinVarClinVar Annotator: match by term: 3-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia

PMID:25597510
 IAGPRGD:98546208554872ClinVarClinVar Annotator: match by term: 3-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia

PMID:25597510, PMID:25741868, PMID:27290639, PMID:28492532, PMID:28554332, PMID:28687938
 IAGPRGD:98546218554872ClinVarClinVar Annotator: match by term: 3-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia

PMID:25597510, PMID:25597511, PMID:27290639, PMID:28492532, PMID:28687938
 IAGPRGD:98546228554872ClinVarClinVar Annotator: match by term: 3-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia

PMID:25597511, PMID:28492532
 IAGPRGD:98546238554872ClinVarClinVar Annotator: match by term: 3-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia

PMID:25597511
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.