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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:chromosome 3q29 microdeletion syndrome
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Accession:DOID:0060419 term browser browse the term
Definition:A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome 3q29 region. (DO)
Synonyms:exact_synonym: 3q subtelomere deletion syndrome;   3q29 recurrent deletion;   3qter deletion;   microdeletion 3q29 syndrome
 primary_id: MESH:C567184
 alt_id: MIM:609425
 xref: GARD:11974;   ORDO:65286


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chromosome 3q29 microdeletion syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cep19 centrosomal protein 19 ISO ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome ClinVar NCBI chr11:68,677,869...68,687,117
Ensembl chr11:68,677,871...68,687,022 		JBrowse link
G Dlg1 discs large MAGUK scaffold protein 1 ISO ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome ClinVar NCBI chr11:68,911,883...69,103,230
Ensembl chr11:68,911,883...69,102,689 		JBrowse link
G Dynlt2b dynein light chain Tctex-type 2B ISO ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome ClinVar NCBI chr11:68,359,138...68,367,573
Ensembl chr11:68,358,263...68,367,499 		JBrowse link
G Fbxo45 F-box protein 45 ISO ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome ClinVar NCBI chr11:68,551,430...68,567,053
Ensembl chr11:68,551,122...68,566,800 		JBrowse link
G Meltf melanotransferrin ISO ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome ClinVar NCBI chr11:68,884,446...68,906,300
Ensembl chr11:68,884,446...68,906,300 		JBrowse link
G Ncbp2 nuclear cap binding protein subunit 2 ISO ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome ClinVar NCBI chr11:68,821,026...68,829,863
Ensembl chr11:68,817,740...68,851,885 		JBrowse link
G Ncbp2as2 NCBP2 antisense 2 (head to head) ISO ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome ClinVar NCBI chr11:68,829,950...68,830,715
Ensembl chr11:68,829,983...68,830,708 		JBrowse link
G Nrros negative regulator of reactive oxygen species ISO ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome ClinVar NCBI chr11:68,628,641...68,646,152
Ensembl chr11:68,628,712...68,646,142 		JBrowse link
G Pak2 p21 (RAC1) activated kinase 2 ISO ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome ClinVar NCBI chr11:68,707,940...68,768,816
Ensembl chr11:68,707,969...68,768,816 		JBrowse link
G Pcyt1a phosphate cytidylyltransferase 1A, choline ISO ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome ClinVar NCBI chr11:68,313,860...68,357,828
Ensembl chr11:68,313,882...68,357,357 		JBrowse link
G Pigx phosphatidylinositol glycan anchor biosynthesis, class X ISO ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome ClinVar NCBI chr11:68,687,126...68,703,067
Ensembl chr11:68,687,093...68,703,472 		JBrowse link
G Pigz phosphatidylinositol glycan anchor biosynthesis, class Z ISO ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome ClinVar NCBI chr11:68,831,847...68,851,798 JBrowse link
G Rnf168 ring finger protein 168 ISO ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome ClinVar NCBI chr11:68,486,313...68,508,296
Ensembl chr11:68,486,321...68,508,277 		JBrowse link
G Senp5 SUMO specific peptidase 5 ISO ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome ClinVar NCBI chr11:68,784,699...68,819,569
Ensembl chr11:68,784,957...68,819,562 		JBrowse link
G Slc51a solute carrier family 51 member A ISO ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome ClinVar NCBI chr11:68,299,086...68,313,485
Ensembl chr11:68,299,086...68,313,485 		JBrowse link
G Smco1 single-pass membrane protein with coiled-coil domains 1 ISO ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome ClinVar NCBI chr11:68,512,113...68,514,999
Ensembl chr11:68,509,150...68,515,003 		JBrowse link
G Tfrc transferrin receptor ISO ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome ClinVar NCBI chr11:68,163,413...68,185,257
Ensembl chr11:68,163,413...68,185,257 		JBrowse link
G Tm4sf19 transmembrane 4 L six family member 19 ISO ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome ClinVar NCBI chr11:68,372,945...68,386,192
Ensembl chr11:68,371,647...68,384,591 		JBrowse link
G Tnk2 tyrosine kinase, non-receptor, 2 ISO ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome ClinVar NCBI chr11:68,114,725...68,154,254
Ensembl chr11:68,114,726...68,154,009 		JBrowse link
G Ubxn7 UBX domain protein 7 ISO ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome ClinVar NCBI chr11:68,427,896...68,460,100 JBrowse link
G Wdr53 WD repeat domain 53 ISO ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome ClinVar NCBI chr11:68,542,647...68,551,148
Ensembl chr11:68,542,650...68,551,112 		JBrowse link
G Zdhhc19 zinc finger DHHC-type palmitoyltransferase 19 ISO ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome ClinVar NCBI chr11:68,277,847...68,289,110
Ensembl chr11:68,277,848...68,288,954 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19065
    syndrome 11171
      chromosomal deletion syndrome 1524
        chromosome 3q29 microdeletion syndrome 22
Path 2
Term Annotations click to browse term
  disease 19065
    disease of anatomical entity 18355
      nervous system disease 14221
        central nervous system disease 12556
          brain disease 11776
            disease of mental health 8368
              developmental disorder of mental health 5596
                specific developmental disorder 4595
                  intellectual disability 4375
                    chromosome 3q29 microdeletion syndrome 22
paths to the root