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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:Tatton-Brown-Rahman syndrome
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Accession:DOID:0112339 term browser browse the term
Definition:A syndromic intellectual disability characterized by tall stature, a distinctive facial appearance, and impaired intellectual development that has_material_basis_in heterozygous mutation in the DNMT3A gene on chromosome 2p23.3. (DO)
Synonyms:exact_synonym: DNMT3A overgrowth syndrome;   DOS;   TBRS;   Tatton-Brown-Rahman overgrowth syndrome
 primary_id: OMIM:615879
 alt_id: DOID:9007831
 xref: ORDO:404443


show annotations for term's descendants           Sort by:
Tatton-Brown-Rahman syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 4932415D10Rikl RIKEN cDNA 4932415D10 gene like ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chr 6:25,023,718...25,040,928 JBrowse link
G Abhd1 abhydrolase domain containing 1 ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chr 6:25,422,526...25,427,514
Ensembl chr 6:25,422,526...25,427,514 		JBrowse link
G Adcy3 adenylate cyclase 3 ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:24614070 PMID:26866722 PMID:28492532 PMID:29900417 NCBI chr 6:27,100,089...27,203,686
Ensembl chr 6:27,124,828...27,203,686 		JBrowse link
G Adgrf3 adhesion G protein-coupled receptor F3 ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chr 6:26,133,176...26,144,601
Ensembl chr 6:26,133,192...26,144,601 		JBrowse link
G Agbl5 AGBL carboxypeptidase 5 ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chr 6:25,472,333...25,492,173
Ensembl chr 6:25,472,333...25,490,738 		JBrowse link
G Asxl2 ASXL transcriptional regulator 2 ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:24614070 PMID:26866722 PMID:28492532 PMID:29900417 NCBI chr 6:26,425,017...26,514,899
Ensembl chr 6:26,425,954...26,507,477 		JBrowse link
G Atraid all-trans retinoic acid-induced differentiation factor ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chr 6:25,315,236...25,319,821 JBrowse link
G Babam2 BRISC and BRCA1 A complex member 2 ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chr 6:24,369,021...24,788,416
Ensembl chr 6:24,369,022...24,833,951 		JBrowse link
G Cad carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chr 6:25,292,133...25,315,078
Ensembl chr 6:25,292,133...25,319,861 		JBrowse link
G Ccdc121 coiled-coil domain containing 121 ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chr 6:24,970,845...24,973,451
Ensembl chr 6:24,970,833...24,973,478 		JBrowse link
G Cenpa centromere protein A ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chr 6:25,700,142...25,711,767
Ensembl chr 6:25,700,142...25,711,675 		JBrowse link
G Cenpo centromere protein O ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:24614070 PMID:26866722 PMID:28492532 PMID:29900417 NCBI chr 6:27,203,642...27,218,394
Ensembl chr 6:27,188,537...27,218,314 		JBrowse link
G Cgref1 cell growth regulator with EF hand domain 1 ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chr 6:25,431,846...25,443,853
Ensembl chr 6:25,431,799...25,443,852 		JBrowse link
G Cib4 calcium and integrin binding family member 4 ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chr 6:25,842,605...25,903,509
Ensembl chr 6:25,842,622...25,917,206 		JBrowse link
G Cimip2c ciliary microtubule inner protein 2C ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chr 6:25,905,294...25,923,615
Ensembl chr 6:25,905,294...25,923,615 		JBrowse link
G Dnajc27 DnaJ heat shock protein family (Hsp40) member C27 ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:24614070 PMID:26866722 PMID:28492532 PMID:29900417 NCBI chr 6:27,068,713...27,098,449
Ensembl chr 6:27,068,686...27,098,449 		JBrowse link
G Dnajc5g DnaJ heat shock protein family (Hsp40) member C5 gamma ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chr 6:25,260,087...25,264,251
Ensembl chr 6:25,260,088...25,264,152 		JBrowse link
G Dnmt3a DNA methyltransferase 3 alpha ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome		 OMIM
CTD
ClinVar		 PMID:9536098 PMID:11836534 PMID:15456878 PMID:16199547 PMID:17576681 More... NCBI chr 6:26,791,517...26,902,161
Ensembl chr 6:26,822,609...26,896,687 		JBrowse link
G Dpysl5 dihydropyrimidinase-like 5 ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chr 6:25,575,104...25,659,422
Ensembl chr 6:25,575,104...25,659,422 		JBrowse link
G Drc1 dynein regulatory complex subunit 1 ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chr 6:26,025,004...26,059,438
Ensembl chr 6:26,025,005...26,059,414 		JBrowse link
G Dtnb dystrobrevin, beta ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:24614070 PMID:26866722 PMID:28492532 PMID:29900417 NCBI chr 6:26,566,418...26,763,467
Ensembl chr 6:26,566,925...26,766,335 		JBrowse link
G Efr3b EFR3 homolog B ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:24614070 PMID:26866722 PMID:28492532 PMID:29900417 NCBI chr 6:26,947,436...27,021,113
Ensembl chr 6:26,948,540...27,020,933 		JBrowse link
G Eif2b4 eukaryotic translation initiation factor 2B subunit delta ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chr 6:25,183,177...25,188,832
Ensembl chr 6:25,183,186...25,188,829 		JBrowse link
G Emilin1 elastin microfibril interfacer 1 ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chr 6:25,455,974...25,463,713
Ensembl chr 6:25,445,298...25,463,698 		JBrowse link
G Fndc4 fibronectin type III domain containing 4 ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chr 6:25,077,155...25,080,812
Ensembl chr 6:25,077,349...25,080,675 		JBrowse link
G Fosl2 FOS like 2, AP-1 transcription factor subunit ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chr 6:24,297,898...24,319,219
Ensembl chr 6:24,300,956...24,320,034 		JBrowse link
G Garem2 GRB2 associated regulator of MAPK1 subtype 2 ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chr 6:26,228,965...26,255,576
Ensembl chr 6:26,230,048...26,241,762 		JBrowse link
G Gckr glucokinase regulator ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chr 6:25,044,592...25,075,834
Ensembl chr 6:25,045,100...25,075,654 		JBrowse link
G Gpn1 GPN-loop GTPase 1 ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chr 6:24,947,350...24,965,025
Ensembl chr 6:24,947,325...24,965,031 		JBrowse link
G Gtf3c2 general transcription factor IIIC subunit 2 ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chr 6:25,196,439...25,221,338
Ensembl chr 6:25,197,268...25,220,490 		JBrowse link
G Hadha hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chr 6:26,187,969...26,227,605
Ensembl chr 6:26,187,956...26,227,869 		JBrowse link
G Hadhb hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chr 6:26,153,572...26,187,668
Ensembl chr 6:26,153,578...26,184,869 		JBrowse link
G Ift172 intraflagellar transport 172 ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chr 6:25,081,933...25,121,271
Ensembl chr 6:25,081,980...25,120,860 		JBrowse link
G Itsn2 intersectin 2 ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:24614070 PMID:26866722 PMID:28492532 PMID:29900417 NCBI chr 6:27,616,645...27,727,373
Ensembl chr 6:27,600,406...27,727,124 		JBrowse link
G Kcnk3 potassium two pore domain channel subfamily K member 3 ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chr 6:25,761,487...25,799,153
Ensembl chr 6:25,763,228...25,799,153 		JBrowse link
G Khk ketohexokinase ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chr 6:25,445,298...25,455,834
Ensembl chr 6:25,445,300...25,455,717 		JBrowse link
G Kif3c kinesin family member 3C ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chr 6:26,367,092...26,406,033
Ensembl chr 6:26,366,531...26,406,130 		JBrowse link
G Krtcap3 keratinocyte associated protein 3 ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chr 6:25,120,938...25,122,522
Ensembl chr 6:25,120,938...25,122,507 		JBrowse link
G Mapre3 microtubule-associated protein, RP/EB family, member 3 ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chr 6:25,513,800...25,558,876
Ensembl chr 6:25,513,800...25,558,881 		JBrowse link
G Mpv17 mitochondrial inner membrane protein MPV17 ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chr 6:25,221,668...25,236,241
Ensembl chr 6:25,222,896...25,236,244 		JBrowse link
G Mrpl33 mitochondrial ribosomal protein L33 ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chr 6:24,825,800...24,833,994
Ensembl chr 6:24,825,827...24,833,834 		JBrowse link
G Ncoa1 nuclear receptor coactivator 1 ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:24614070 PMID:26866722 PMID:28492532 PMID:29900417 NCBI chr 6:27,232,609...27,507,992
Ensembl chr 6:27,232,611...27,475,664 		JBrowse link
G Nrbp1 nuclear receptor binding protein 1 ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chr 6:25,122,635...25,133,209
Ensembl chr 6:25,122,635...25,133,182 		JBrowse link
G Ost4 oligosaccharyltransferase complex subunit 4, non-catalytic ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chr 6:25,471,254...25,472,478 JBrowse link
G Otof otoferlin ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chr 6:25,928,018...26,024,631
Ensembl chr 6:25,928,055...26,024,631 		JBrowse link
G Plb1 phospholipase B1 ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chr 6:24,087,051...24,227,167
Ensembl chr 6:24,089,214...24,210,117 		JBrowse link
G Pomc proopiomelanocortin ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:24614070 PMID:26866722 PMID:28492532 PMID:29900417 PMID:32435502 NCBI chr 6:26,939,844...26,945,666
Ensembl chr 6:26,939,837...26,945,664 		JBrowse link
G Ppm1g protein phosphatase, Mg2+/Mn2+ dependent, 1G ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chr 6:25,153,556...25,173,763
Ensembl chr 6:25,153,556...25,173,761 		JBrowse link
G Ppp1cb protein phosphatase 1 catalytic subunit beta ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chr 6:23,958,813...23,992,841
Ensembl chr 6:23,960,998...23,992,824 		JBrowse link
G Preb prolactin regulatory element binding ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chr 6:25,418,805...25,422,594
Ensembl chr 6:25,418,776...25,422,590 		JBrowse link
G Prr30 proline rich 30 ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chr 6:25,415,069...25,417,582
Ensembl chr 6:25,414,868...25,417,585 		JBrowse link
G Ptrhd1 peptidyl-tRNA hydrolase domain containing 1 ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:24614070 PMID:26866722 PMID:28492532 PMID:29900417 NCBI chr 6:27,218,417...27,221,805
Ensembl chr 6:27,218,417...27,221,805 		JBrowse link
G Rab10 RAB10, member RAS oncogene family ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chr 6:26,267,081...26,319,739
Ensembl chr 6:26,266,859...26,320,193 		JBrowse link
G Rbks ribokinase ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chr 6:24,747,651...24,824,290
Ensembl chr 6:24,747,293...24,824,290 		JBrowse link
G Selenoi selenoprotein I ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chr 6:26,073,127...26,111,326
Ensembl chr 6:26,072,648...26,111,314 		JBrowse link
G Slc30a3 solute carrier family 30 member 3 ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chr 6:25,264,310...25,284,720
Ensembl chr 6:25,275,528...25,284,720 		JBrowse link
G Slc35f6 solute carrier family 35, member F6 ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chr 6:25,725,822...25,737,720
Ensembl chr 6:25,725,819...25,737,730 		JBrowse link
G Slc4a1ap solute carrier family 4 member 1 adaptor protein ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chr 6:24,905,941...24,933,651
Ensembl chr 6:24,905,941...24,933,815 		JBrowse link
G Slc5a6 solute carrier family 5 member 6 ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chr 6:25,319,187...25,331,713
Ensembl chr 6:25,320,442...25,331,712 		JBrowse link
G Snx17 sorting nexin 17 ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chr 6:25,177,528...25,183,001
Ensembl chr 6:25,177,391...25,183,030 		JBrowse link
G Supt7l SPT7 like, STAGA complex subunit gamma ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chr 6:24,933,941...24,944,656
Ensembl chr 6:24,933,923...24,944,654 		JBrowse link
G Tcf23 transcription factor 23 ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chr 6:25,397,889...25,406,639
Ensembl chr 6:25,397,937...25,405,880 		JBrowse link
G Tmem214 transmembrane protein 214 ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chr 6:25,501,575...25,510,444
Ensembl chr 6:25,502,698...25,510,444 		JBrowse link
G Trim54 tripartite motif-containing 54 ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chr 6:25,239,340...25,258,511
Ensembl chr 6:25,239,340...25,258,511 		JBrowse link
G Ucn urocortin ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chr 6:25,238,120...25,238,950
Ensembl chr 6:25,238,120...25,238,950 		JBrowse link
G Zfp512 zinc finger protein 512 ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chr 6:24,976,903...25,007,913
Ensembl chr 6:24,976,906...25,007,819 		JBrowse link
G Zfp513 zinc finger protein 513 ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chr 6:25,174,181...25,177,442
Ensembl chr 6:25,174,178...25,177,439 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21108
    syndrome 10708
      Tatton-Brown-Rahman syndrome 67
Path 2
Term Annotations click to browse term
  disease 21108
    disease of anatomical entity 18147
      nervous system disease 13987
        central nervous system disease 12334
          brain disease 11564
            thalamic disease 494
              hypothalamic disease 494
                pituitary gland disease 268
                  hyperpituitarism 101
                    Gigantism 76
                      Tatton-Brown-Rahman syndrome 67
paths to the root