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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



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Tatton-Brown-Rahman syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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 | ClinVar Annotator: match by term: Tatton-Brown-rahman 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 Spata31h1 SPATA31 subfamily H member 1 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 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 21120
    syndrome 10776
      Tatton-Brown-Rahman syndrome 67
Path 2
Term Annotations click to browse term
  disease 21120
    disease of anatomical entity 18195
      nervous system disease 14031
        central nervous system disease 12366
          brain disease 11603
            disease of mental health 8276
              developmental disorder of mental health 5516
                specific developmental disorder 4477
                  intellectual disability 4267
                    syndromic intellectual disability 750
                      Tatton-Brown-Rahman syndrome 67
paths to the root