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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 with cataracts, neurologic involvement and neutropenia
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Accession:DOID:0110003 term browser browse the term
Definition:A 3-methylglutaconic aciduria that has_material_basis_in homozygous or compound heterozygous mutation in the CLPB gene on chromosome 11q13. (DO)
Synonyms:exact_synonym: 3-methylglutaconic aciduria type 7;   3-methylglutaconic aciduria type VII;   3-methylglutaconic aciduria type VII, with cataracts, neurologic involvement and neutropenia;   MEGCANN;   MGA7;   MGCA7
 narrow_synonym: 3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia, autosomal recessive;   3-methylglutaconic aciduria with neurologic involvement and neutropenia, autosomal dominant
 xref: EFO:0009014;   ORDO:445038


show annotations for term's descendants           Sort by:
3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Clpb ClpB family mitochondrial disaggregase ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia | ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropenia ClinVar PMID:9536098 PMID:17576681 PMID:25595726 PMID:25597511 PMID:25741868 More... NCBI chr 1:156,028,740...156,158,183
Ensembl chr 1:156,028,930...156,168,788 		JBrowse link
3-methylglutaconic aciduria type 7a term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Clpb ClpB family mitochondrial disaggregase ISO ClinVar Annotator: match by term: 3-METHYLGLUTACONIC ACIDURIA, TYPE VIIA | ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIA OMIM
ClinVar		 PMID:25597510 PMID:25741868 PMID:28492532 PMID:32313153 PMID:34115842 More... NCBI chr 1:156,028,740...156,158,183
Ensembl chr 1:156,028,930...156,168,788 		JBrowse link
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 chr 1:156,238,640...156,266,005
Ensembl chr 1:156,262,841...156,268,145 		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 chr 1:155,748,622...155,814,186
Ensembl chr 1:155,748,652...155,814,184 		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 chr 1:155,230,607...155,290,163
Ensembl chr 1:155,233,168...155,290,498 		JBrowse link
G Arrb1 arrestin, beta 1 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 1:153,837,964...153,912,111
Ensembl chr 1:153,838,078...153,904,061 		JBrowse link
G Atg16l2 autophagy related 16-like 2 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 1:155,687,386...155,703,419
Ensembl chr 1:155,684,564...155,703,420 		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 chr 1:154,715,151...154,812,955
Ensembl chr 1:154,715,310...154,812,520 		JBrowse link
G Chrdl2 chordin-like 2 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 1:154,343,201...154,370,651
Ensembl chr 1:154,343,201...154,370,640 		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 chr 1:156,028,740...156,158,183
Ensembl chr 1:156,028,930...156,168,788 		JBrowse link
G Coa4 cytochrome c oxidase assembly factor 4 homolog ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 1:154,882,199...154,885,445
Ensembl chr 1:154,882,155...154,888,174 		JBrowse link
G Dhcr7 7-dehydrocholesterol reductase ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 1:199,015,081...199,031,055
Ensembl chr 1:199,015,081...199,031,055 		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 chr 1:154,848,586...154,863,042
Ensembl chr 1:154,848,594...154,862,963 		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 chr 1:155,057,352...155,203,439
Ensembl chr 1:155,057,352...155,201,220 		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 chr 1:155,444,471...155,685,350
Ensembl chr 1:155,444,460...155,685,539 		JBrowse link
G Folr1 folate receptor alpha ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 1:156,219,460...156,238,436
Ensembl chr 1:156,219,460...156,230,667 		JBrowse link
G Folr2 folate receptor beta ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 1:156,200,044...156,218,380
Ensembl chr 1:156,200,060...156,205,724 		JBrowse link
G Gdpd5 glycerophosphodiester phosphodiesterase domain containing 5 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 1:153,679,718...153,761,452
Ensembl chr 1:153,679,718...153,761,446 		JBrowse link
G Il18bp interleukin 18 binding protein ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 1:156,372,923...156,374,963
Ensembl chr 1:156,372,883...156,374,963 		JBrowse link
G Inppl1 inositol polyphosphate phosphatase-like 1 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 1:156,183,043...156,197,500
Ensembl chr 1:156,183,059...156,197,500 		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 chr 1:154,523,903...154,530,865
Ensembl chr 1:154,523,830...154,532,020 		JBrowse link
G Klhl35 kelch-like family member 35 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 1:153,767,138...153,773,550
Ensembl chr 1:153,767,970...153,773,557 		JBrowse link
G Krtap5-8 keratin associated protein 5-8 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 1:197,446,125...197,446,817
Ensembl chr 1:197,446,125...197,446,817 		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 chr 1:156,272,116...156,277,687
Ensembl chr 1:156,272,064...156,291,179 		JBrowse link
G Lipt2 lipoyl(octanoyl) transferase 2 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 1:154,504,563...154,506,890
Ensembl chr 1:154,504,563...154,506,890 		JBrowse link
G Lrtomt leucine rich transmembrane and O-methyltransferase domain containing ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 1:156,266,655...156,268,704
Ensembl chr 1:156,266,655...156,268,704 		JBrowse link
G Mir139 microRNA 139 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 1:155,878,828...155,878,895
Ensembl chr 1:155,878,825...155,878,902 		JBrowse link
G Mir326 microRNA 326 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 1:153,854,029...153,854,123
Ensembl chr 1:153,854,029...153,854,123 		JBrowse link
G Mrpl48 mitochondrial ribosomal protein L48 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 1:154,896,663...154,939,285
Ensembl chr 1:154,896,663...154,939,281 		JBrowse link
G Nadsyn1 NAD synthetase 1 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 1:198,981,559...199,009,853
Ensembl chr 1:198,981,604...199,009,869 		JBrowse link
G Neu3 neuraminidase 3 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 1:154,137,732...154,148,879
Ensembl chr 1:154,050,855...154,148,813 		JBrowse link
G Numa1 nuclear mitotic apparatus protein 1 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 1:156,297,907...156,372,855
Ensembl chr 1:156,326,259...156,372,855 		JBrowse link
G Olr35 olfactory receptor 35 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 1:153,994,678...154,043,281
Ensembl chr 1:154,041,306...154,043,257 		JBrowse link
G P2ry2 purinergic receptor P2Y2 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 1:155,352,050...155,367,423
Ensembl chr 1:155,351,165...155,367,632 		JBrowse link
G P2ry6 pyrimidinergic receptor P2Y6 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 1:155,295,110...155,330,610
Ensembl chr 1:155,295,111...155,330,808 		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 chr 1:154,628,723...154,663,779
Ensembl chr 1:154,628,736...154,663,775 		JBrowse link
G Pde2a phosphodiesterase 2A ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 1:155,823,590...155,915,434
Ensembl chr 1:155,813,180...155,915,434 		JBrowse link
G Pgm2l1 phosphoglucomutase 2-like 1 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 1:154,571,410...154,620,901
Ensembl chr 1:154,571,766...154,620,902 		JBrowse link
G Phox2a paired-like homeobox 2a ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 1:156,178,754...156,183,118
Ensembl chr 1:156,178,754...156,183,118 		JBrowse link
G Plekhb1 pleckstrin homology domain containing B1 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 1:154,998,798...155,013,094
Ensembl chr 1:154,998,800...155,016,142 		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 chr 1:154,417,893...154,456,687
Ensembl chr 1:154,418,084...154,456,665 		JBrowse link
G Ppme1 protein phosphatase methylesterase 1 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 1:154,668,099...154,715,079
Ensembl chr 1:154,668,109...154,715,110 		JBrowse link
G Rab6a RAB6A, member RAS oncogene family ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 1:154,957,870...155,008,922
Ensembl chr 1:154,958,189...154,996,715 		JBrowse link
G Relt RELT, TNF receptor ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 1:155,206,976...155,224,609
Ensembl chr 1:155,206,976...155,214,196 		JBrowse link
G Rnf121 ring finger protein 121 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 1:156,377,368...156,439,936
Ensembl chr 1:156,377,364...156,446,826 		JBrowse link
G Rnf169 ring finger protein 169 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 1:154,250,462...154,311,867
Ensembl chr 1:154,254,473...154,311,653 		JBrowse link
G Rps3 ribosomal protein S3 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 1:153,778,363...153,783,663
Ensembl chr 1:153,777,472...153,783,680 		JBrowse link
G Serpinh1 serpin family H member 1 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 1:153,643,500...153,650,853
Ensembl chr 1:153,643,510...153,650,801 		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 chr 1:153,959,288...154,007,294
Ensembl chr 1:153,959,293...154,007,353 		JBrowse link
G Snord15a small nucleolar RNA, C/D box 15A ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 1:153,782,788...153,782,935
Ensembl chr 1:153,782,788...153,782,935 		JBrowse link
G Spcs2 signal peptidase complex subunit 2 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 1:154,163,724...154,183,152
Ensembl chr 1:154,163,724...154,183,186 		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 chr 1:155,722,637...155,748,007
Ensembl chr 1:155,718,389...155,747,094 		JBrowse link
G Tpbgl trophoblast glycoprotein-like ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 1:153,923,722...153,926,548
Ensembl chr 1:153,925,098...153,926,252 		JBrowse link
G Ucp2 uncoupling protein 2 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 1:154,839,242...154,845,612
Ensembl chr 1:154,839,209...154,845,611 		JBrowse link
G Ucp3 uncoupling protein 3 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 1:154,815,777...154,828,764
Ensembl chr 1:154,815,777...154,828,762 		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 chr 1:154,183,330...154,247,883
Ensembl chr 1:154,183,377...154,247,895 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19137
    disease of anatomical entity 18450
      nervous system disease 14357
        Neurologic Manifestations 10449
          3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia 54
            3-methylglutaconic aciduria type 7a 1
            3-methylglutaconic aciduria type 7b 54
Path 2
Term Annotations click to browse term
  disease 19137
    disease of anatomical entity 18450
      Hemic and Lymphatic Diseases 4344
        hematopoietic system disease 3835
          leukocyte disease 1346
            leukopenia 568
              agranulocytosis 500
                neutropenia 496
                  3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia 54
                    3-methylglutaconic aciduria type 7a 1
                    3-methylglutaconic aciduria type 7b 54
paths to the root