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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:3-methylglutaconic aciduria type 7b
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Accession:DOID:0081134 term browser browse the term
Definition:A 3-methylglutaconic aciduria that has_material_basis_in homozygous or compound heterozygous loss-of-function mutations in the CLPB gene on chromosome 11q13. (DO)
Synonyms:exact_synonym: 3-methylglutaconic aciduria, type VIIB;   3-methylglutaconic aciduria, type VIIB, autosomal recessive;   MGCA7B
 primary_id: MIM:616271

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3-methylglutaconic aciduria type 7b term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Anapc15 anaphase promoting complex subunit 15 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chrNW_004624817:4,863,426...4,866,452
Ensembl chrNW_004624817:4,864,670...4,866,452 		JBrowse link
G Arap1 ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chrNW_004624817:4,200,725...4,259,732
Ensembl chrNW_004624817:4,200,525...4,262,638 		JBrowse link
G Arhgef17 Rho guanine nucleotide exchange factor 17 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chrNW_004624817:3,582,665...3,641,258
Ensembl chrNW_004624817:3,579,841...3,640,801 		JBrowse link
G Arrb1 arrestin beta 1 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chrNW_004624817:1,750,448...1,828,399
Ensembl chrNW_004624817:1,750,156...1,823,309 		JBrowse link
G Atg16l2 autophagy related 16 like 2 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chrNW_004624817:4,123,963...4,153,720
Ensembl chrNW_004624817:4,140,543...4,147,597 		JBrowse link
G C2cd3 C2 domain containing 3 centriole elongation regulator ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chrNW_004624817:2,880,775...3,060,399
Ensembl chrNW_004624817:2,880,976...3,042,004 		JBrowse link
G Chrdl2 chordin like 2 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chrNW_004624817:2,388,583...2,419,841
Ensembl chrNW_004624817:2,388,601...2,419,939 		JBrowse link
G Clpb ClpB family mitochondrial disaggregase ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:25595726 PMID:25597510 More... NCBI chrNW_004624817:4,593,823...4,735,573
Ensembl chrNW_004624817:4,593,639...4,735,091 		JBrowse link
G Dhcr7 7-dehydrocholesterol reductase ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chrNW_004624767:16,118,157...16,132,225
Ensembl chrNW_004624767:16,118,052...16,132,834 		JBrowse link
G Dnajb13 DnaJ heat shock protein family (Hsp40) member B13 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chrNW_004624817:3,078,578...3,093,273
Ensembl chrNW_004624817:3,077,086...3,093,117 		JBrowse link
G Fam168a family with sequence similarity 168 member A ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chrNW_004624817:3,367,402...3,553,275
Ensembl chrNW_004624817:3,474,230...3,550,714 		JBrowse link
G Fchsd2 FCH and double SH3 domains 2 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chrNW_004624817:3,819,124...4,134,757
Ensembl chrNW_004624817:3,819,178...4,135,044 		JBrowse link
G Folr1 folate receptor alpha ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chrNW_004624817:4,830,164...4,850,565
Ensembl chrNW_004624817:4,820,163...4,851,339 		JBrowse link
G Gdpd5 glycerophosphodiester phosphodiesterase domain containing 5 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chrNW_004624817:1,596,687...1,689,428
Ensembl chrNW_004624817:1,596,684...1,688,566 		JBrowse link
G Il18bp interleukin 18 binding protein ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chrNW_004624817:4,963,586...4,967,122
Ensembl chrNW_004624817:4,964,403...4,965,944 		JBrowse link
G Inppl1 inositol polyphosphate phosphatase like 1 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chrNW_004624817:4,779,875...4,794,644
Ensembl chrNW_004624817:4,779,057...4,793,732 		JBrowse link
G Kcne3 potassium voltage-gated channel subfamily E regulatory subunit 3 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chrNW_004624817:2,593,649...2,607,462
Ensembl chrNW_004624817:2,513,539...2,606,682 		JBrowse link
G Klhl35 kelch like family member 35 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chrNW_004624817:1,694,399...1,703,169
Ensembl chrNW_004624817:1,694,402...1,702,413 		JBrowse link
G Lamtor1 late endosomal/lysosomal adaptor, MAPK and MTOR activator 1 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chrNW_004624817:4,872,630...4,879,217
Ensembl chrNW_004624817:4,872,672...4,890,791 		JBrowse link
G Lipt2 lipoyl(octanoyl) transferase 2 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chrNW_004624817:2,573,459...2,575,259
Ensembl chrNW_004624817:2,573,479...2,575,259 		JBrowse link
G LOC101715323 cytochrome c oxidase assembly factor 4 homolog, mitochondrial ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chrNW_004624817:3,136,847...3,141,526
Ensembl chrNW_004624817:3,137,630...3,141,520 		JBrowse link
G LOC101721569 folate receptor gamma ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532
G Mrpl48 mitochondrial ribosomal protein L48 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chrNW_004624817:3,145,267...3,203,182
Ensembl chrNW_004624817:3,140,573...3,211,291 		JBrowse link
G Nadsyn1 NAD synthetase 1 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chrNW_004624767:16,069,895...16,115,029
Ensembl chrNW_004624767:16,069,780...16,115,162 		JBrowse link
G Neu3 neuraminidase 3 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chrNW_004624817:2,107,893...2,133,626 JBrowse link
G Numa1 nuclear mitotic apparatus protein 1 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chrNW_004624817:4,896,066...4,963,440
Ensembl chrNW_004624817:4,924,827...4,963,436 		JBrowse link
G P2ry2 purinergic receptor P2Y2 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chrNW_004624817:3,706,017...3,721,045
Ensembl chrNW_004624817:3,706,017...3,719,649 		JBrowse link
G P2ry6 pyrimidinergic receptor P2Y6 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chrNW_004624817:3,648,829...3,672,051
Ensembl chrNW_004624817:3,648,829...3,671,852 		JBrowse link
G P4ha3 prolyl 4-hydroxylase subunit alpha 3 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chrNW_004624817:2,780,201...2,826,046
Ensembl chrNW_004624817:2,780,209...2,815,240 		JBrowse link
G Paaf1 proteasomal ATPase associated factor 1 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chrNW_004624817:3,104,058...3,137,532
Ensembl chrNW_004624817:3,104,659...3,137,446 		JBrowse link
G Pde2a phosphodiesterase 2A ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chrNW_004624817:4,269,422...4,367,576
Ensembl chrNW_004624817:4,269,347...4,369,486 		JBrowse link
G Pgm2l1 phosphoglucomutase 2 like 1 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chrNW_004624817:2,664,227...2,761,141
Ensembl chrNW_004624817:2,664,516...2,755,867 		JBrowse link
G Phox2a paired like homeobox 2A ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chrNW_004624817:4,775,176...4,779,694
Ensembl chrNW_004624817:4,775,258...4,779,303 		JBrowse link
G Plekhb1 pleckstrin homology domain containing B1 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chrNW_004624817:3,324,394...3,336,696
Ensembl chrNW_004624817:3,323,743...3,338,257 		JBrowse link
G Pold3 DNA polymerase delta 3, accessory subunit ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chrNW_004624817:2,465,809...2,538,723
Ensembl chrNW_004624817:2,467,803...2,513,267 		JBrowse link
G Ppme1 protein phosphatase methylesterase 1 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chrNW_004624817:2,827,249...2,880,545
Ensembl chrNW_004624817:2,826,715...2,880,597 		JBrowse link
G Rab6a RAB6A, member RAS oncogene family ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chrNW_004624817:3,241,636...3,307,331
Ensembl chrNW_004624817:3,241,323...3,307,269 		JBrowse link
G Relt RELT TNF receptor ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chrNW_004624817:3,555,676...3,575,873
Ensembl chrNW_004624817:3,557,002...3,575,933 		JBrowse link
G Rnf121 ring finger protein 121 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chrNW_004624817:4,968,790...5,051,573
Ensembl chrNW_004624817:4,968,684...5,051,871 		JBrowse link
G Rnf169 ring finger protein 169 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chrNW_004624817:2,272,874...2,371,168
Ensembl chrNW_004624817:2,277,222...2,371,105 		JBrowse link
G Rps3 ribosomal protein S3 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chrNW_004624817:1,710,768...1,715,923
Ensembl chrNW_004624817:1,710,768...1,716,224 		JBrowse link
G Serpinh1 serpin family H member 1 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chrNW_004624817:1,561,471...1,570,425
Ensembl chrNW_004624817:1,561,471...1,570,947 		JBrowse link
G Slco2b1 solute carrier organic anion transporter family member 2B1 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chrNW_004624817:1,879,710...1,943,430
Ensembl chrNW_004624817:1,881,327...1,931,186 		JBrowse link
G Spcs2 signal peptidase complex subunit 2 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chrNW_004624817:2,149,021...2,174,575
Ensembl chrNW_004624817:2,148,916...2,175,222 		JBrowse link
G Stard10 StAR related lipid transfer domain containing 10 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chrNW_004624817:4,174,867...4,198,785
Ensembl chrNW_004624817:4,171,599...4,200,415 		JBrowse link
G Tpbgl trophoblast glycoprotein like ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chrNW_004624817:1,846,286...1,850,672
Ensembl chrNW_004624817:1,849,056...1,850,225 		JBrowse link
G Ucp2 uncoupling protein 2 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chrNW_004624817:3,067,358...3,075,045
Ensembl chrNW_004624817:3,067,320...3,075,043 		JBrowse link
G Xrra1 X-ray radiation resistance associated 1 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chrNW_004624817:2,174,599...2,271,509
Ensembl chrNW_004624817:2,181,901...2,268,478 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14234
    disease of anatomical entity 13936
      nervous system disease 12272
        Neurologic Manifestations 9178
          3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia 48
            3-methylglutaconic aciduria type 7b 48
Path 2
Term Annotations click to browse term
  disease 14234
    Developmental Disease 12524
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11800
        genetic disease 11525
          inherited metabolic disorder 5504
            amino acid metabolic disorder 1473
              organic acidemia 354
                3-methylglutaconic aciduria 141
                  3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia 48
                    3-methylglutaconic aciduria type 7b 48
paths to the root