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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: OMIM: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_004936498:1,460,795...1,468,363
Ensembl chrNW_004936498:1,463,810...1,468,351 		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_004936498:1,953,770...2,016,875
Ensembl chrNW_004936498:1,953,762...2,003,367 		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_004936498:2,511,516...2,570,481
Ensembl chrNW_004936498:2,511,986...2,571,680 		JBrowse link
G Arrb1 arrestin beta 1 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chrNW_004936498:4,089,621...4,172,749
Ensembl chrNW_004936498:4,094,893...4,172,755 		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_004936498:2,070,985...2,084,141
Ensembl chrNW_004936498:2,070,881...2,083,968 		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_004936498:3,099,419...3,242,334
Ensembl chrNW_004936498:3,099,396...3,242,335 		JBrowse link
G Chrdl2 chordin like 2 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chrNW_004936498:3,637,476...3,667,922
Ensembl chrNW_004936498:3,637,439...3,667,599 		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_004936498:1,590,655...1,730,815
Ensembl chrNW_004936498:1,590,655...1,730,815 		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_004936498:3,042,151...3,055,966
Ensembl chrNW_004936498:3,042,108...3,055,979 		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_004936498:2,601,341...2,784,446
Ensembl chrNW_004936498:2,605,788...2,670,164 		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_004936498:2,089,069...2,344,007
Ensembl chrNW_004936498:2,086,282...2,344,708 		JBrowse link
G Folr1 folate receptor alpha ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chrNW_004936498:1,489,916...1,497,200
Ensembl chrNW_004936498:1,491,547...1,497,226 		JBrowse link
G Folr2 folate receptor beta ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chrNW_004936498:1,516,719...1,522,187
Ensembl chrNW_004936498:1,516,710...1,522,347 		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_004936498:4,225,855...4,288,082
Ensembl chrNW_004936498:4,225,305...4,288,059 		JBrowse link
G Il18bp interleukin 18 binding protein ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chrNW_004936498:1,353,569...1,358,312
Ensembl chrNW_004936498:1,355,749...1,361,117 		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_004936498:1,524,128...1,539,680
Ensembl chrNW_004936498:1,524,128...1,540,578 		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_004936498:3,477,313...3,487,580
Ensembl chrNW_004936498:3,478,039...3,478,350 		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_004936498:4,213,436...4,221,206
Ensembl chrNW_004936498:4,211,651...4,221,173 		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_004936498:1,446,794...1,459,590
Ensembl chrNW_004936498:1,442,754...1,459,673 		JBrowse link
G Lipt2 lipoyl(octanoyl) transferase 2 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chrNW_004936498:3,497,424...3,499,131
Ensembl chrNW_004936498:3,497,053...3,499,169 		JBrowse link
G LOC101971285 7-dehydrocholesterol reductase ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chrNW_004936794:1,432,379...1,468,966 JBrowse link
G LOC101974080 cytochrome c oxidase assembly factor 4 homolog, mitochondrial ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chrNW_004936498:3,000,962...3,001,741
Ensembl chrNW_004936498:3,000,727...3,004,392 		JBrowse link
G Mrpl48 mitochondrial ribosomal protein L48 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chrNW_004936498:2,937,005...2,993,124
Ensembl chrNW_004936498:2,936,603...2,997,191 		JBrowse link
G Nadsyn1 NAD synthetase 1 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chrNW_004936794:1,394,975...1,423,807
Ensembl chrNW_004936794:1,396,703...1,423,709 		JBrowse link
G Neu3 neuraminidase 3 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chrNW_004936498:3,897,511...3,915,013
Ensembl chrNW_004936498:3,897,485...3,910,115 		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_004936498:1,358,598...1,438,041
Ensembl chrNW_004936498:1,359,285...1,438,382 		JBrowse link
G P2ry2 purinergic receptor P2Y2 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chrNW_004936498:2,432,436...2,444,495
Ensembl chrNW_004936498:2,432,448...2,444,354 		JBrowse link
G P2ry6 pyrimidinergic receptor P2Y6 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chrNW_004936498:2,468,020...2,501,344
Ensembl chrNW_004936498:2,500,128...2,501,114 		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_004936498:3,313,572...3,346,888
Ensembl chrNW_004936498:3,313,586...3,346,888 		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_004936498:3,001,688...3,033,624
Ensembl chrNW_004936498:3,003,975...3,033,650 		JBrowse link
G Pde2a phosphodiesterase 2A ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chrNW_004936498:1,856,256...1,944,405
Ensembl chrNW_004936498:1,856,144...1,944,412 		JBrowse link
G Pgm2l1 phosphoglucomutase 2 like 1 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chrNW_004936498:3,369,347...3,426,938
Ensembl chrNW_004936498:3,369,351...3,427,262 		JBrowse link
G Phox2a paired like homeobox 2A ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chrNW_004936498:1,539,939...1,544,469
Ensembl chrNW_004936498:1,540,484...1,544,360 		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_004936498:2,813,842...2,831,772
Ensembl chrNW_004936498:2,813,587...2,831,855 		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_004936498:3,544,001...3,584,456
Ensembl chrNW_004936498:3,543,914...3,585,934 		JBrowse link
G Ppme1 protein phosphatase methylesterase 1 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chrNW_004936498:3,242,413...3,302,334
Ensembl chrNW_004936498:3,242,282...3,302,330 		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_004936498:2,840,141...2,907,227
Ensembl chrNW_004936498:2,839,834...2,907,227 		JBrowse link
G Relt RELT TNF receptor ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chrNW_004936498:2,577,389...2,596,690
Ensembl chrNW_004936498:2,589,291...2,595,207 		JBrowse link
G Rnf121 ring finger protein 121 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chrNW_004936498:1,291,072...1,353,487
Ensembl chrNW_004936498:1,291,067...1,352,528 		JBrowse link
G Rnf169 ring finger protein 169 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chrNW_004936498:3,675,075...3,783,514
Ensembl chrNW_004936498:3,685,572...3,776,466 		JBrowse link
G Rps3 ribosomal protein S3 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chrNW_004936498:4,198,189...4,204,531
Ensembl chrNW_004936498:4,198,130...4,204,528 		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_004936498:4,341,944...4,351,432
Ensembl chrNW_004936498:4,341,899...4,351,524 		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_004936498:3,998,537...4,047,436
Ensembl chrNW_004936498:3,998,474...4,047,239 		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_004936498:3,848,045...3,872,691
Ensembl chrNW_004936498:3,848,017...3,875,147 		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_004936498:2,018,736...2,044,897
Ensembl chrNW_004936498:2,018,531...2,044,877 		JBrowse link
G Tpbgl trophoblast glycoprotein like ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chrNW_004936498:4,074,869...4,079,796
Ensembl chrNW_004936498:4,076,084...4,077,253 		JBrowse link
G Ucp2 uncoupling protein 2 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chrNW_004936498:3,059,700...3,066,112
Ensembl chrNW_004936498:3,059,297...3,066,197 		JBrowse link
G Ucp3 uncoupling protein 3 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chrNW_004936498:3,082,575...3,095,739
Ensembl chrNW_004936498:3,082,575...3,095,737 		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_004936498:3,783,623...3,844,674
Ensembl chrNW_004936498:3,785,091...3,839,386 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16465
    disease of anatomical entity 14117
      nervous system disease 12341
        Neurologic Manifestations 9046
          3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia 49
            3-methylglutaconic aciduria type 7b 49
Path 2
Term Annotations click to browse term
  disease 16465
    disease of anatomical entity 14117
      Hemic and Lymphatic Diseases 3445
        hematopoietic system disease 2990
          leukocyte disease 1162
            leukopenia 482
              agranulocytosis 444
                neutropenia 442
                  3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia 49
                    3-methylglutaconic aciduria type 7b 49
paths to the root