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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:Rubinstein-Taybi syndrome
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Accession:DOID:1933 term browser browse the term
Definition:A syndrome characterized by short stature, moderate to sever intellectual disability, distinctive facial features and broad thumbs and first toes. (DO)
Synonyms:exact_synonym: RSTS;   RSTS1;   RSTS2;   Rubinstein syndrome;   Rubinstein-Taybi syndrome 1;   Rubinstein-Taybi syndrome 2;   broad thumb hallux syndrome;   broad thumb-hallux syndromes;   broad thumbs and great toes, characteristic facies, and mental retardation
 primary_id: MESH:D012415
 alt_id: OMIM:180849;   OMIM:613684
 xref: GARD:7593;   NCI:C75466;   OMIM:PS180849;   ORDO:783
For additional species annotation, visit the Alliance of Genome Resources.


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Rubinstein-Taybi syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adcy9 adenylate cyclase 9 ISO ClinVar Annotator: match by term: Rubinstein-Taybi syndrome | ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 1 ClinVar PMID:12114483 PMID:15706485 PMID:17855048 PMID:25805166 PMID:27257017 More... NCBI chr10:11,138,966...11,262,067
Ensembl chr10:11,139,446...11,262,066 		JBrowse link
G Anks3 ankyrin repeat and sterile alpha motif domain containing 3 ISO ClinVar Annotator: match by term: Rubinstein-Taybi syndrome ClinVar PMID:12114483 PMID:17855048 PMID:25805166 PMID:27257017 PMID:28492532 NCBI chr10:10,614,953...10,635,815
Ensembl chr10:10,615,047...10,635,806 		JBrowse link
G Cdip1 cell death-inducing p53 target 1 ISO ClinVar Annotator: match by term: Rubinstein-Taybi syndrome ClinVar PMID:12114483 PMID:17855048 PMID:25805166 PMID:27257017 PMID:28492532 NCBI chr10:10,773,538...10,796,979
Ensembl chr10:10,774,705...10,796,980 		JBrowse link
G Cluap1 clusterin associated protein 1 ISO ClinVar Annotator: match by term: Rubinstein-Taybi syndrome ClinVar PMID:12114483 PMID:17052327 PMID:17855048 PMID:18792986 PMID:25805166 More... NCBI chr10:11,587,963...11,619,711
Ensembl chr10:11,588,017...11,619,711 		JBrowse link
G Coro7 coronin 7 ISO ClinVar Annotator: match by term: Rubinstein-Taybi syndrome ClinVar PMID:12114483 PMID:17855048 PMID:25805166 PMID:27257017 PMID:28492532 NCBI chr10:10,880,299...10,941,001
Ensembl chr10:10,885,196...10,941,001 		JBrowse link
G Crebbp CREB binding protein ISO ClinVar Annotator: match by term: Broad thumb-hallux syndrome | ClinVar Annotator: match by term: Broad thumbs and great toes, characteristic facies, and mental retardation | ClinVar Annotator: match by term: Rubinstein-Taybi syndrome | ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 1 | ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2 ClinVar
OMIM
RGD		 PMID:7630403 PMID:8967953 PMID:9536098 PMID:11331617 PMID:12070251 More... RGD:734820 NCBI chr10:11,335,551...11,461,888
Ensembl chr10:11,335,953...11,461,888 		JBrowse link
G Dnaaf8 dynein axonemal assembly factor 8 ISO ClinVar Annotator: match by term: Rubinstein-Taybi syndrome ClinVar PMID:12114483 PMID:17855048 PMID:25805166 PMID:27257017 PMID:28492532 NCBI chr10:10,600,747...10,614,891
Ensembl chr10:10,600,734...10,614,891 		JBrowse link
G Dnaja3 DnaJ heat shock protein family (Hsp40) member A3 ISO ClinVar Annotator: match by term: Rubinstein-Taybi syndrome ClinVar PMID:12114483 PMID:17855048 PMID:25805166 PMID:27257017 PMID:28492532 NCBI chr10:10,855,510...10,880,175
Ensembl chr10:10,854,732...10,880,161 		JBrowse link
G Dnase1 deoxyribonuclease 1 ISO ClinVar Annotator: match by term: Rubinstein-Taybi syndrome ClinVar PMID:12114483 PMID:17052327 PMID:17855048 PMID:18792986 PMID:25805166 More... NCBI chr10:11,498,930...11,505,151
Ensembl chr10:11,498,931...11,501,869 		JBrowse link
G Ep300 E1A binding protein p300 ISO DNA:nonsense mutation, deletions:exons, 5' utr:p.R648X, c.2877_2884del, c.-1200-?_94+?del (human)
ClinVar Annotator: match by term: Broad thumbs and great toes, characteristic facies, and mental retardation | ClinVar Annotator: match by term: Rubinstein-Taybi syndrome | ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 1 | ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2
DNA:nonsense mutation, deletions:multiple (human)		 ClinVar
OMIM
RGD		 PMID:10700188 PMID:15706485 PMID:16199547 PMID:17299436 PMID:18414213 More... RGD:1580966, RGD:7296921 NCBI chr 7:113,108,476...113,178,529
Ensembl chr 7:113,106,247...113,136,088
Ensembl chr 7:113,106,247...113,136,088 		JBrowse link
G Glis2 GLIS family zinc finger 2 ISO ClinVar Annotator: match by term: Broad thumbs and great toes, characteristic facies, and mental retardation | ClinVar Annotator: match by term: Rubinstein-Taybi syndrome ClinVar PMID:12114483 PMID:15706485 PMID:17855048 PMID:25805166 PMID:27257017 More... NCBI chr10:10,951,157...10,978,524
Ensembl chr10:10,951,371...10,971,578 		JBrowse link
G Hmox2 heme oxygenase 2 ISO ClinVar Annotator: match by term: Rubinstein-Taybi syndrome ClinVar PMID:12114483 PMID:17855048 PMID:25805166 PMID:27257017 PMID:28492532 NCBI chr10:10,797,076...10,831,178
Ensembl chr10:10,797,055...10,831,148 		JBrowse link
G LOC100361104 CG10869-like ISO ClinVar Annotator: match by term: Rubinstein-Taybi syndrome ClinVar PMID:12114483 PMID:17855048 PMID:25805166 PMID:27257017 PMID:28492532 NCBI chr10:10,707,529...10,750,893 JBrowse link
G Mefv MEFV innate immuity regulator, pyrin ISO ClinVar Annotator: match by term: Rubinstein-Taybi syndrome ClinVar PMID:12114483 PMID:17052327 PMID:17855048 PMID:18792986 PMID:25805166 More... NCBI chr10:11,786,948...11,796,977
Ensembl chr10:11,787,422...11,796,973 		JBrowse link
G Mgrn1 mahogunin ring finger 1 ISO ClinVar Annotator: match by term: Rubinstein-Taybi syndrome ClinVar PMID:12114483 PMID:17855048 PMID:25805166 PMID:27257017 PMID:28492532 NCBI chr10:10,638,881...10,688,332
Ensembl chr10:10,638,880...10,688,315 		JBrowse link
G Naa60 N(alpha)-acetyltransferase 60, NatF catalytic subunit ISO ClinVar Annotator: match by term: Rubinstein-Taybi syndrome ClinVar PMID:12114483 PMID:17052327 PMID:17855048 PMID:18792986 PMID:25805166 More... NCBI chr10:11,622,554...11,653,078
Ensembl chr10:11,587,916...11,642,755 		JBrowse link
G Nlrc3 NLR family, CARD domain containing 3 ISO ClinVar Annotator: match by term: Rubinstein-Taybi syndrome ClinVar PMID:12114483 PMID:17052327 PMID:17855048 PMID:18792986 PMID:25805166 More... NCBI chr10:11,551,378...11,585,027
Ensembl chr10:11,551,356...11,584,398 		JBrowse link
G Nmral1 NmrA like redox sensor 1 ISO ClinVar Annotator: match by term: Rubinstein-Taybi syndrome ClinVar PMID:12114483 PMID:17855048 PMID:25805166 PMID:27257017 PMID:28492532 NCBI chr10:10,841,693...10,850,199
Ensembl chr10:10,841,799...10,850,192 		JBrowse link
G Nudt16l1 nudix hydrolase 16 like 1 ISO ClinVar Annotator: match by term: Rubinstein-Taybi syndrome ClinVar PMID:12114483 PMID:17855048 PMID:25805166 PMID:27257017 PMID:28492532 NCBI chr10:10,636,174...10,638,090
Ensembl chr10:10,636,174...10,688,370 		JBrowse link
G Olr1356 olfactory receptor 1356 ISO ClinVar Annotator: match by term: Rubinstein-Taybi syndrome ClinVar PMID:12114483 PMID:17052327 PMID:17855048 PMID:18792986 PMID:25805166 More... NCBI chr10:11,682,890...11,683,828
Ensembl chr10:11,681,001...11,692,105 		JBrowse link
G Pam16 presequence translocase associated motor 16 ISO ClinVar Annotator: match by term: Rubinstein-Taybi syndrome ClinVar PMID:12114483 PMID:17855048 PMID:25805166 PMID:27257017 PMID:28492532 NCBI chr10:10,942,534...10,950,654
Ensembl chr10:10,943,001...10,950,649 		JBrowse link
G RGD1561796 RGD1561796 ISO ClinVar Annotator: match by term: Rubinstein-Taybi syndrome ClinVar PMID:12114483 PMID:17052327 PMID:17855048 PMID:18792986 PMID:25805166 More... NCBI chr10:11,618,867...11,632,151
Ensembl chr10:11,618,348...11,629,910 		JBrowse link
G Rogdi rogdi atypical leucine zipper ISO ClinVar Annotator: match by term: Rubinstein-Taybi syndrome ClinVar PMID:12114483 PMID:17855048 PMID:25805166 PMID:27257017 PMID:28492532 NCBI chr10:10,567,834...10,572,453
Ensembl chr10:10,567,834...10,572,452 		JBrowse link
G Septin12 septin 12 ISO ClinVar Annotator: match by term: Rubinstein-Taybi syndrome ClinVar PMID:12114483 PMID:17855048 PMID:25805166 PMID:27257017 PMID:28492532 NCBI chr10:10,580,900...10,590,582
Ensembl chr10:10,581,008...10,590,581 		JBrowse link
G Slx4 SLX4 structure-specific endonuclease subunit ISO ClinVar Annotator: match by term: Rubinstein-Taybi syndrome ClinVar PMID:12114483 PMID:17052327 PMID:17855048 PMID:18792986 PMID:25805166 More... NCBI chr10:11,526,563...11,549,291
Ensembl chr10:11,528,424...11,549,295 		JBrowse link
G Smim22 small integral membrane protein 22 ISO ClinVar Annotator: match by term: Rubinstein-Taybi syndrome ClinVar PMID:12114483 PMID:17855048 PMID:25805166 PMID:27257017 PMID:28492532 NCBI chr10:10,572,146...10,574,339 JBrowse link
G Srl sarcalumenin ISO ClinVar Annotator: match by term: Broad thumbs and great toes, characteristic facies, and mental retardation | ClinVar Annotator: match by term: Rubinstein-Taybi syndrome ClinVar PMID:12114483 PMID:15706485 PMID:17855048 PMID:25805166 PMID:27257017 More... NCBI chr10:11,033,976...11,078,103
Ensembl chr10:11,034,035...11,078,101 		JBrowse link
G Tfap4 transcription factor AP-4 ISO ClinVar Annotator: match by term: Broad thumbs and great toes, characteristic facies, and mental retardation | ClinVar Annotator: match by term: Rubinstein-Taybi syndrome ClinVar PMID:12114483 PMID:15706485 PMID:17855048 PMID:25805166 PMID:27257017 More... NCBI chr10:11,001,338...11,019,386
Ensembl chr10:11,002,911...11,019,386 		JBrowse link
G Trap1 TNF receptor-associated protein 1 ISO ClinVar Annotator: match by term: Rubinstein-Taybi syndrome ClinVar PMID:12114483 PMID:17052327 PMID:17855048 PMID:18792986 PMID:25805166 More... NCBI chr10:11,464,882...11,498,931
Ensembl chr10:11,464,821...11,498,981 		JBrowse link
G Ubald1 UBA-like domain containing 1 ISO ClinVar Annotator: match by term: Rubinstein-Taybi syndrome ClinVar PMID:12114483 PMID:17855048 PMID:25805166 PMID:27257017 PMID:28492532 NCBI chr10:10,695,754...10,700,519
Ensembl chr10:10,695,717...10,700,518 		JBrowse link
G Vasn vasorin ISO ClinVar Annotator: match by term: Rubinstein-Taybi syndrome ClinVar PMID:12114483 PMID:17855048 PMID:25805166 PMID:27257017 PMID:28492532 NCBI chr10:10,917,750...10,928,259
Ensembl chr10:10,917,605...10,928,357 		JBrowse link
G Zfp174 zinc finger protein 174 ISO ClinVar Annotator: match by term: Rubinstein-Taybi syndrome ClinVar PMID:12114483 PMID:17052327 PMID:17855048 PMID:18792986 PMID:25805166 More... NCBI chr10:11,666,580...11,676,328
Ensembl chr10:11,669,913...11,676,312 		JBrowse link
G Zfp263 zinc finger protein 263 ISO ClinVar Annotator: match by term: Rubinstein-Taybi syndrome ClinVar PMID:12114483 PMID:17052327 PMID:17855048 PMID:18792986 PMID:25805166 More... NCBI chr10:11,764,424...11,774,330
Ensembl chr10:11,764,427...11,771,235 		JBrowse link
G Zfp597 zinc finger protein 597 ISO ClinVar Annotator: match by term: Rubinstein-Taybi syndrome ClinVar PMID:12114483 PMID:17052327 PMID:17855048 PMID:18792986 PMID:25805166 More... NCBI chr10:11,653,169...11,658,843
Ensembl chr10:11,653,127...11,660,675 		JBrowse link
Rubinstein Taybi like Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Asxl1 ASXL transcriptional regulator 1 ISO ClinVar Annotator: match by term: Rubinstein Taybi like syndrome ClinVar PMID:16412590 PMID:30806792 NCBI chr 3:141,814,012...141,881,526
Ensembl chr 3:141,813,433...141,881,538 		JBrowse link
G Kmt2a lysine methyltransferase 2A ISO ClinVar Annotator: match by term: Rubinstein Taybi like syndrome ClinVar PMID:30806792 NCBI chr 8:45,116,771...45,193,320
Ensembl chr 8:45,118,814...45,193,181 		JBrowse link
G Kmt2d lysine methyltransferase 2D ISO ClinVar Annotator: match by term: Rubinstein Taybi like syndrome ClinVar PMID:30806792 NCBI chr 7:129,980,744...130,022,088
Ensembl chr 7:129,962,887...130,020,325 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18030
    syndrome 9456
      chromosomal deletion syndrome 1034
        Rubinstein-Taybi syndrome 37
          Chromosome 16p13.3 Deletion Syndrome 0
          Rubinstein Taybi like Syndrome 3
Path 2
Term Annotations click to browse term
  disease 18030
    disease of anatomical entity 17410
      nervous system disease 13079
        central nervous system disease 11253
          brain disease 10538
            disease of mental health 7449
              developmental disorder of mental health 4824
                specific developmental disorder 4065
                  intellectual disability 3879
                    Rubinstein-Taybi syndrome 37
                      Chromosome 16p13.3 Deletion Syndrome 0
                      Rubinstein Taybi like Syndrome 3
paths to the root