Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models   new Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources

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
go back to main search page
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 ABHD1 abhydrolase domain containing 1 ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chr 3:111,996,138...112,002,127
Ensembl chr 3:111,996,142...112,002,132 		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 3:113,875,005...113,969,053
Ensembl chr 3:113,876,339...113,982,369 		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 3:112,693,165...112,704,778
Ensembl chr 3:112,671,204...112,705,296 		JBrowse link
G AGBL5 AGBL carboxypeptidase 5 ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chr 3:112,047,234...112,066,977
Ensembl chr 3:112,047,290...112,066,977 		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 3:113,044,788...113,184,809
Ensembl chr 3:113,044,836...113,180,742 		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 3:111,914,710...111,919,766
Ensembl chr 3:111,914,708...111,919,946 		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 3:110,897,250...111,328,414
Ensembl chr 3:110,897,360...111,328,402 		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 3:111,887,017...111,914,511
Ensembl chr 3:111,887,020...111,914,492 		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 3:111,565,045...111,570,457 JBrowse link
G CENPA centromere protein A ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chr 3:112,263,912...112,272,638
Ensembl chr 3:112,263,915...112,272,621 		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 3:113,968,735...113,979,201
Ensembl chr 3:113,968,902...113,979,148 		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 3:112,006,596...112,020,211 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 3:112,415,709...112,457,253
Ensembl chr 3:112,406,908...112,457,138 		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 3:112,458,914...112,474,431
Ensembl chr 3:112,458,916...112,474,437 		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 3:113,816,718...113,857,117
Ensembl chr 3:113,816,772...113,857,113 		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 3:111,853,579...111,863,610
Ensembl chr 3:111,853,664...111,857,677 		JBrowse link
G DNMT3A DNA methyltransferase 3 alpha ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome OMIM
ClinVar		 PMID:9536098 PMID:11836534 PMID:15456878 PMID:16199547 PMID:17576681 More... NCBI chr 3:113,501,972...113,609,148
Ensembl chr 3:113,528,926...113,603,087 		JBrowse link
G DPYSL5 dihydropyrimidinase like 5 ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chr 3:112,155,538...112,252,963
Ensembl chr 3:112,156,676...112,252,968 		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 3:112,581,765...112,621,664
Ensembl chr 3:112,581,779...112,621,623 		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 3:113,229,161...113,477,009 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 3:113,670,750...113,758,956
Ensembl chr 3:113,670,755...113,758,876 		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 3:111,781,661...111,786,377
Ensembl chr 3:111,781,648...111,786,372 		JBrowse link
G EMILIN1 elastin microfibril interfacer 1 ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chr 3:112,031,910...112,039,928
Ensembl chr 3:112,031,917...112,046,429 		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 3:111,677,569...111,682,496
Ensembl chr 3:111,678,892...111,682,426 		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 3:110,820,403...110,842,903
Ensembl chr 3:110,823,666...110,843,068 		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 3:112,799,350...112,817,583
Ensembl chr 3:112,800,719...112,805,740 		JBrowse link
G GCKR glucokinase regulator ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chr 3:111,649,557...111,683,539
Ensembl chr 3:111,649,539...111,676,772 		JBrowse link
G GPN1 GPN-loop GTPase 1 ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chr 3:111,541,010...111,565,065
Ensembl chr 3:111,537,737...111,572,692 		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 3:111,793,700...111,820,501
Ensembl chr 3:111,793,338...111,820,506 		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 3:112,753,343...112,797,627
Ensembl chr 3:112,752,865...112,797,733 		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 3:112,712,894...112,753,121
Ensembl chr 3:112,704,024...112,753,086 		JBrowse link
G IFT172 intraflagellar transport 172 ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chr 3:111,683,674...111,718,504
Ensembl chr 3:111,683,669...111,718,970 		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 3:114,363,319...114,508,447
Ensembl chr 3:114,363,529...114,508,444 		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 3:112,322,446...112,359,212
Ensembl chr 3:112,322,446...112,359,212 		JBrowse link
G KHK ketohexokinase ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chr 3:112,021,163...112,031,615
Ensembl chr 3:112,021,108...112,031,620 		JBrowse link
G KIF3C kinesin family member 3C ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chr 3:112,963,424...113,014,632
Ensembl chr 3:112,966,804...113,014,624 		JBrowse link
G KRTCAP3 keratinocyte associated protein 3 ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chr 3:111,718,581...111,720,245
Ensembl chr 3:111,718,584...111,720,207 		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 3:112,084,467...112,136,079
Ensembl chr 3:112,084,469...112,136,061 		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 3:111,823,075...111,833,929
Ensembl chr 3:111,821,690...111,833,928 		JBrowse link
G MRPL33 mitochondrial ribosomal protein L33 ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chr 3:111,428,850...111,438,735
Ensembl chr 3:111,428,856...111,438,707 		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 3:113,997,214...114,251,080
Ensembl chr 3:113,999,253...114,250,298 		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 3:111,720,377...111,733,032
Ensembl chr 3:111,720,379...111,733,304 		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 3:112,046,116...112,055,376
Ensembl chr 3:112,046,398...112,046,511 		JBrowse link
G OTOF otoferlin ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chr 3:112,478,188...112,581,105
Ensembl chr 3:112,478,027...112,581,104 		JBrowse link
G PLB1 phospholipase B1 ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chr 3:110,605,923...110,741,236
Ensembl chr 3:110,605,923...110,741,130 		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 3:113,661,712...113,668,558
Ensembl chr 3:113,661,004...113,670,418 		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 3:111,748,012...111,770,868
Ensembl chr 3:111,748,105...111,770,901 		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 3:110,437,681...110,474,896
Ensembl chr 3:110,437,688...110,474,891 		JBrowse link
G PREB prolactin regulatory element binding ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chr 3:111,992,364...111,996,194
Ensembl chr 3:111,992,391...111,996,559 		JBrowse link
G PRR30 proline rich 30 ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chr 3:111,987,904...111,991,486 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 3:113,979,174...113,982,943 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 3:112,842,190...112,924,188
Ensembl chr 3:112,829,137...112,924,269 		JBrowse link
G RBKS ribokinase ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chr 3:111,328,758...111,426,173
Ensembl chr 3:111,328,750...111,426,908 		JBrowse link
G SELENOI selenoprotein I ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chr 3:112,632,985...112,671,127
Ensembl chr 3:112,628,744...112,671,078 		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 3:111,870,803...111,878,234
Ensembl chr 3:111,870,681...111,879,324 		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 3:112,280,654...112,296,874
Ensembl chr 3:112,280,661...112,296,865 		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 3:111,503,994...111,532,133
Ensembl chr 3:111,506,254...111,531,625 		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 3:111,919,298...111,930,944
Ensembl chr 3:111,922,848...111,930,940 		JBrowse link
G SNX17 sorting nexin 17 ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chr 3:111,775,038...111,781,545
Ensembl chr 3:111,774,843...111,781,474 		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 3:111,605,900...111,612,235
Ensembl chr 3:111,605,828...111,612,082 		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 3:111,531,670...111,542,000
Ensembl chr 3:111,531,689...111,542,000 		JBrowse link
G TCF23 transcription factor 23 ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chr 3:111,976,848...111,983,879
Ensembl chr 3:111,976,845...111,983,790 		JBrowse link
G TMEM214 transmembrane protein 214 ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chr 3:112,069,932...112,080,715
Ensembl chr 3:112,069,933...112,080,682 		JBrowse link
G TRIM54 tripartite motif containing 54 ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chr 3:111,836,038...111,852,468
Ensembl chr 3:111,834,181...111,852,744 		JBrowse link
G UCN urocortin ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chr 3:111,834,082...111,835,932
Ensembl chr 3:111,835,125...111,835,508 		JBrowse link
G ZNF512 zinc finger protein 512 ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chr 3:111,572,423...111,605,830
Ensembl chr 3:111,572,425...111,605,793 		JBrowse link
G ZNF513 zinc finger protein 513 ISO ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome ClinVar PMID:28492532 NCBI chr 3:111,771,406...111,774,928
Ensembl chr 3:111,771,239...111,774,925 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17415
    syndrome 9894
      Tatton-Brown-Rahman syndrome 67
Path 2
Term Annotations click to browse term
  disease 17415
    disease of anatomical entity 14875
      nervous system disease 12962
        central nervous system disease 11612
          brain disease 10901
            disease of mental health 7881
              developmental disorder of mental health 5352
                specific developmental disorder 4368
                  intellectual disability 4178
                    syndromic intellectual disability 749
                      Tatton-Brown-Rahman syndrome 67
paths to the root