RTS
MCID: RBN001
MIFTS: 68

Rubinstein-Taybi Syndrome (RTS) malady

Neuronal, Eye, Nephrological, Bone, Fetal, Cancer categories

Summaries for Rubinstein-Taybi Syndrome

Sources:
21Genetics Home Reference, 43NIH Rare Diseases, 64Wikipedia, 47OMIM, 19GeneReviews, 33MalaCards
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NIH Rare Diseases:43 Rubinstein-taybi syndrome is a genetic disease characterized by broad thumbs and toes, short stature, distinctive facial features, and varying degrees of intellectual disability. the condition may be caused by mutations in the crebbp gene, the ep300 gene, or as the result of a deletion of genetic material from the short (p) arm of chromosome 16. about half of people with rubinstein-taybi syndrome do not have an identified mutation or a deletion. the cause of the condition in these cases is unknown. while rubinstein-taybi syndrome is considered to have an autosomal dominant pattern of inheritance, most cases result from new mutations in the gene and occur in people with no history of the disorder in their family. treatment is symptomatic and supportive. last updated: 3/17/2011

MalaCards: Rubinstein-Taybi Syndrome, also known as broad thumb-hallux syndrome, is related to mental retardation and colorectal cancer, and has symptoms including hypertelorism, low set ears/posteriorly rotated ears and syndactyly of fingers/interdigital palm. An important gene associated with Rubinstein-Taybi Syndrome is CREBBP (CREB binding protein), and among its related pathways are LRR FLII-interacting protein 1 (LRRFIP1) activates type I IFN production and Cellular response to hypoxia. The compounds proglucagon and rosiglitazone have been mentioned in the context of this disorder. Affiliated tissues include spinal cord, brain and kidney, and related mouse phenotypes are embryogenesis and respiratory system.

Genetics Home Reference:21 Rubinstein-Taybi syndrome is a condition characterized by short stature, moderate to severe intellectual disability, distinctive facial features, and broad thumbs and first toes. Additional features of the disorder can include eye abnormalities, heart and kidney defects, dental problems, and obesity. These signs and symptoms vary among affected individuals. People with this condition have an increased risk of developing noncancerous and cancerous tumors, including certain kinds of brain tumors. Cancer of blood-forming tissue (leukemia) also occurs more frequently in people with Rubinstein-Taybi syndrome.

Wikipedia:64 Rubinstein–Taybi syndrome (RTS), also known as broad thumb-hallux syndrome or Rubinstein syndrome, is... more...

Description from OMIM:47 613684,180849,610543

GeneReviews summary for rsts

Aliases & Classifications for Rubinstein-Taybi Syndrome

Sources:
21Genetics Home Reference, 8Disease Ontology, 9diseasecard, 64Wikipedia, 19GeneReviews, 43NIH Rare Diseases, 20GeneTests, 22GTR, 47OMIM, 10DISEASES, 45Novoseek, 49Orphanet, 61UMLS, 35MeSH, 40NCIt, 57SNOMED-CT, 36MESH via Orphanet, 26ICD10 via Orphanet, 58SNOMED-CT via Orphanet, 62UMLS via Orphanet
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Fetal, Cancer
Anatomical: Neuronal, Eye, Nephrological, Bone


Characteristics (Orphanet epidemiological data):

49
rubinstein-taybi syndrome:
Inheritance: Autosomal dominant; Prevalence: 1-9/100000; Age of onset: Neonatal/infancy


Aliases & Descriptions:

rubinstein-taybi syndrome 8 9 64 19 43 20 22 21 47 10 45 49 61
broad thumb-hallux syndrome 8 64 43 21
rsts 64 43 21
broad thumbs and great toes, characteristic facies, and mental retardation 43
rubinstein-taybi syndrome due to crebbp mutations 49
broad thumbs-hallux syndrome 19
rubinstein syndrome 43
rts 21


External Ids:

Disease Ontology8 DOID:1933
NCIt40 C75466
SNOMED-CT57 45582004, 157032007
MESH via Orphanet36 D012415
ICD10 via Orphanet26 Q87.2
SNOMED-CT via Orphanet58 45582004
UMLS via Orphanet62 C0035934

Related Diseases for Rubinstein-Taybi Syndrome

Sources:
17GeneCards, 18GeneDecks
See all sources

Diseases in the Rubinstein-Taybi Syndrome family:

rubinstein taybi like syndrome ep300-related rubinstein-taybi syndrome
rubinstein-taybi syndrome 2 rubinstein-taybi syndrome due to 16p13.3 microdeletion

Diseases related to Rubinstein-Taybi Syndrome via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 252)
idRelated DiseaseScoreTop Affiliating Genes
1mental retardation30.7CREBBP, CREB1, EP300, PAX6
2colorectal cancer30.6CREBBP, HDAC9, EP300, PAX6
3acute promyelocytic leukemia30.5CREBBP, HDAC9, EP300
4t-cell leukemia30.4CREBBP, CREB1, HDAC9, EP300
5acute leukemia30.3HDAC9, CREB1, CREBBP
6chronic myeloid leukemia30.2CREBBP, CREB1, HDAC9
7n syndrome11.0
8micro syndrome10.7
9rubinstein-taybi syndrome 210.6
10keloids10.6
11adult syndrome10.5
12chromosome 16p deletion10.5
13dandy-walker syndrome10.5
14char syndrome10.5
15rubinstein-taybi syndrome due to 16p13.3 microdeletion10.5
16hepatitis d10.4
17bone marrow cancer10.4
18congenital hypothyroidism10.4
19coloboma10.4
20hypoplastic left heart syndrome10.4
21slipped capital femoral epiphysis10.4
22crebbp-related rubinstein-taybi syndrome10.4
23ep300-related rubinstein-taybi syndrome10.4
24sleep apnea10.4
25acute myeloid leukemia10.4
26squamous cell carcinoma10.4
27rothmund-thomson syndrome10.3
28adenocarcinoma10.3
29stroke, ischemic10.3
30newcastle disease10.3
31hepatitis c10.3
32atypical teratoid rhabdoid tumor10.3
33hepatitis c virus10.3
34chikungunya10.3
35smith-lemli-opitz syndrome10.2
36pituitary hypoplasia10.2
37kimura disease10.2
38pilomatrixoma10.2
39spondylolisthesis10.2
40familial mediterranean fever10.2
41tracheal stenosis10.2
42piebaldism10.2
43brachydactyly10.2
44west syndrome10.2
45eosinophilic esophagitis10.2
46polydactyly10.2
47meningoencephalitis10.2
48microcephaly10.2
49tethered spinal cord syndrome10.2
50juvenile glaucoma10.2

Graphical network of the top 20 diseases related to Rubinstein-Taybi Syndrome:



Diseases related to rubinstein-taybi syndrome

Clinical Features for Rubinstein-Taybi Syndrome

Sources:
47OMIM, 49Orphanet
See all sources

Clinical features from OMIM:

613684,180849,610543

Clinical synopsis from OMIM:

180849

Symptoms:

49 (show all 41)
  • hypertelorism
  • low set ears/posteriorly rotated ears
  • syndactyly of fingers/interdigital palm
  • seizures/epilepsy/absences/spasms/status epilepticus
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • failure to thrive/difficulties for feeding in infancy/growth delay
  • ptosis
  • constipation
  • humour troubles/anxiety/depression/apathy/euphoria/irritability
  • high vaulted/narrow palate
  • respiratory distress/dyspnea/respiratory failure/lung volume reduction
  • hearing loss/hypoacusia/deafness
  • hip dislocation/dysplasia/coxa valga/coxa vara/coxa plana
  • anomalies of teeth and dentition
  • multiple caries
  • broad/bifid thumb
  • broad/bifid big toe
  • short stature/dwarfism/nanism
  • microcephaly
  • micrognathia/retrognathia/micrognathism/retrognathism
  • congenital cardiac anomaly/malformation/cardiopathy
  • hirsutism/hypertrichosis/increased body hair
  • epicanthic folds
  • short hand/brachydactyly
  • hyperextensible joints/articular hyperlaxity
  • strabismus/squint
  • broad nasal root
  • hyperactivity/attention deficit
  • undescended/ectopic testes/cryptorchidia/unfixed testes
  • abnormal scarring/cheloids/hypertrophic scars
  • telecanthus/canthal dystopy
  • clinodactyly of fifth finger
  • capillary hemangioma/nevus/naevus flammeus/port-wine stain
  • glaucoma
  • polyhydramnios
  • high arched eyebrows
  • defect/anomaly of lacrimal system
  • downslanted palpebral fissures/anti-mongoloid slanting palpebral fissures
  • beaked nose
  • terminal/third phalangeal bone of fingers broadened/deviated
  • terminal broadening/clubbing of toes

Drugs & Therapeutics for Rubinstein-Taybi Syndrome

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
See all sources

Approved drugs:

Search CenterWatch for Rubinstein-Taybi Syndrome

Drug clinical trials:

Search ClinicalTrials for Rubinstein-Taybi Syndrome

Search NIH Clinical Center for Rubinstein-Taybi Syndrome

Search CenterWatch for Rubinstein-Taybi Syndrome

Genetic Tests for Rubinstein-Taybi Syndrome

Sources:
20GeneTests, 22GTR
See all sources

Genetic tests related to Rubinstein-Taybi Syndrome:

id Genetic test Affiliating Genes
1 Rubinstein-taybi Syndrome20 22 EP300

Anatomical Context for Rubinstein-Taybi Syndrome

Sources:
33MalaCards
See all sources

MalaCards organs/tissues related to Rubinstein-Taybi Syndrome:

33
Spinal cord, Brain, Kidney, Heart, Skeletal muscle, Thyroid, T cells, Pituitary

Animal Models for Rubinstein-Taybi Syndrome or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

Publications for Rubinstein-Taybi Syndrome

Sources:
51PubMed
See all sources

Articles related to Rubinstein-Taybi Syndrome:

(show top 50)    (show all 280)
idTitleAuthorsYear
1
Cervical artery dissection in a young patient with Rubinstein-Taybi syndrome. (21932080)
2013
2
The association of neural axis and craniovertebral junction anomalies with scoliosis in Rubinstein-Taybi syndrome. (22914921)
2012
3
Age-dependent change in behavioral feature in Rubinstein-Taybi syndrome. (22639993)
2012
4
Rubinstein-Taybi syndrome: Clinical profile of 11 patients and review of literature. (23162289)
2012
5
Adults with Rubinstein-Taybi syndrome. (21671385)
2011
6
Monozygotic twins of Rubinstein-Taybi syndrome discordant for glaucoma. (21480480)
2011
7
Rare occurrence of myositis ossificans traumatica in a patient with Rubinstein-Taybi syndrome. (20863946)
2010
8
Two adults with Rubinstein-Taybi syndrome with mild mental retardation, glaucoma, normal growth and skull circumference, and camptodactyly of third fingers. (19938080)
2009
9
Rubinstein Taybi syndrome with hepatic hemangioma. (19204439)
2009
10
Prenatal sonographic diagnosis of Rubinstein-Taybi syndrome. (19389907)
2009
11
Somatic and germ-line mosaicism in Rubinstein-Taybi syndrome. (19533794)
2009
12
Eosinophilic esophagitis and gastritis in Rubinstein-Taybi syndrome. (17414149)
2007
13
Genetic heterogeneity in Rubinstein-Taybi syndrome: delineation of the phenotype of the first patients carrying mutations in EP300. (17220215)
2007
14
Evidence for a new contiguous gene syndrome, the chromosome 16p13.3 deletion syndrome alias severe Rubinstein-Taybi syndrome. (16783566)
2006
15
Rubinstein-Taybi syndrome: an immune deficiency as a cause for recurrent infections. (16913274)
2006
16
Congenital tracheal stenosis in a boy with Rubinstein-Taybi syndrome. (16251568)
2005
17
What's right with my mouse model? New insights into the molecular and cellular basis of cognition from mouse models of Rubinstein-Taybi Syndrome. (15805305)
2005
18
Rubinstein-Taybi syndrome (RTS) with postaxial polydactyly of the foot: 4-year follow-up until improvement of dysbasia. (15904435)
2005
19
A 15-year-old boy with Rubinstein-Taybi syndrome associated with severe congenital malalignment of the toenails. (14871325)
2004
20
Loss of CBP acetyltransferase activity by PHD finger mutations in Rubinstein-Taybi syndrome. (12566391)
2003
21
Clinical quiz. Rubinstein-Taybi syndrome (synonyms: broad thumbs and great toes, characteristic facies, and mental retardation -- broad thumb-hallux syndrome). (11809612)
2002
22
Variation in microdeletions of the cyclic AMP-responsive element-binding protein gene at chromosome band 16p13.3 in the Rubinstein-Taybi syndrome. (10602114)
2000
23
Rubinstein-Taybi syndrome: a girl with a history of neuroblastoma and premature thelarche. (10232744)
1999
24
Bilateral extra tarsal bones in Rubinstein-Taybi syndrome: the fourth cuneiform bones. (10087122)
1999
25
Instability of the patellofemoral joint in Rubinstein-Taybi syndrome. (9661863)
1998
26
Rubinstein-Taybi syndrome with multiple flamboyant keloids. (8726717)
1996
27
Anophthalmia with cleft palate and micrognathia: a new syndrome or an unusual presentation of Rubinstein-Taybi syndrome? (7473666)
1995
28
Duane retraction syndrome associated with Rubinstein-Taybi syndrome. (8749054)
1995
29
Rubinstein-Taybi syndrome with piebaldism. (8050153)
1994
30
Apparent dominant transmission of the Rubinstein-Taybi syndrome. (8488872)
1993
31
Rubinstein-Taybi syndrome caused by submicroscopic deletions within 16p13.3. (8430691)
1993
32
Obstructive sleep apnea in the Rubinstein-Taybi syndrome. (8341855)
1993
33
Retinal detachment with high myopia in the Rubinstein-Taybi syndrome. (1818231)
1991
34
Bibliography on Rubinstein-Taybi syndrome. (2118784)
1990
35
Metacarpophalangeal pattern profile analysis in Rubinstein-Taybi syndrome. (2118778)
1990
36
Etiology and recurrence risk in Rubinstein-Taybi syndrome. (2118780)
1990
37
Rubinstein-Taybi syndrome: the changing face. (2118776)
1990
38
Oral aspects of Rubinstein-Taybi syndrome. (2118777)
1990
39
Unusual association: Dandy-Walker-like malformation in the Rubinstein-Taybi syndrome. (2801779)
1989
40
The Rubinstein-Taybi syndrome: occurrence in two sets of identical twins. (6682729)
1983
41
Cervical spondylolisthesis and other skeletal abnormalities in Rubinstein-Taybi syndrome. (7410460)
1980
42
Bone scan-demonstrated urinary tract abnormalities in a patient with Rubinstein-Taybi syndrome. (7408348)
1980
43
A case of Rubinstein--Taybi syndrome associated with nephrotic syndrome. (762481)
1979
44
Rubinstein-Taybi syndrome and acute leukemia. (273678)
1978
45
Trisomy 13 and Rubinstein-Taybi syndrome. (1121015)
1975
46
Neuropathological findings in the rubinstein-taybi syndrome. (4512091)
1973
47
The Rubinstein-Taybi syndrome. (5803869)
1969
48
The Rubinstein-Taybi syndrome: a report of two cases. (5651233)
1968
49
Rubinstein-Taybi syndrome. The first case in an African child and the first case recognized at birth. (4970066)
1968
50
An unusual form of acrocephalo-syndactyly resembling the syndrome of Rubinstein and Taybi. (5729198)
1968

Genetic Variations for Rubinstein-Taybi Syndrome

Sources:
63UniProtKB/Swiss-Prot
See all sources

Genetic disease variations for Rubinstein-Taybi Syndrome:

63
id Symbol AA change Variation SNP ID
1CREBBPp.Arg1378ProVAR_015578
2CREBBPp.Glu1278LysVAR_035080
3CREBBPp.Thr1447IleVAR_035081
4CREBBPp.Tyr1450HisVAR_035082
5CREBBPp.His1470ArgVAR_035083
6CREBBPp.Arg1664HisVAR_035084
7CREBBPp.Tyr1175CysVAR_037305rs28937315

Expression for genes affiliated with Rubinstein-Taybi Syndrome

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Rubinstein-Taybi Syndrome

Search GEO for disease gene expression data for Rubinstein-Taybi Syndrome.

Pathways for genes affiliated with Rubinstein-Taybi Syndrome

Sources:
54Reactome, 38NCBI BioSystems Database, 52QIAGEN, 12EMD Millipore, 30KEGG, 50PharmGKB
See all sources

Pathways related to Rubinstein-Taybi Syndrome according to GeneCards/GeneDecks:

(show all 45)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
110.0CREBBP, EP300
2
Hide members
10.0EP300, CREBBP
3
Hide members
10.0CREBBP, EP300
4
Hide members
9.7CREB1, ADCY9
59.7EP300, CREBBP, GAS1
69.5EP300, CREB1, CREBBP
79.5EP300, CREB1, CREBBP
8
Development Ligand-independent activation of ESR1 and ESR2
Hide members
9.5EP300, CREB1, CREBBP
9
Hide members
9.5EP300, CREB1, CREBBP
10
Development Prolactin receptor signaling
Hide members
9.5EP300, CREB1, CREBBP
11
Hide members
9.5EP300, CREB1, CREBBP
129.5CREBBP, CREB1, EP300
139.5CREBBP, CREB1, EP300
14
Hide members
9.5CREBBP, CREB1, EP300
159.5CREBBP, CREB1, EP300
16
Hide members
9.5CREBBP, CREB1, EP300
179.5CREBBP, CREB1, EP300
189.5CREBBP, CREB1, EP300
199.5CREBBP, HDAC9, EP300
20
Hide members
9.5CREBBP, HDAC9, EP300
21
Hide members
9.5EP300, HDAC9, CREBBP
22
Hide members
9.4ADCY9, CREB1, CREBBP
23
Hide members
9.3EP300, CREBBP, SAP18
24
Transcription Ligand-Dependent Transcription of Retinoid-Target genes
Hide members
9.3EP300, CREBBP, SAP18
259.3CREBBP, GAS1, SAP18
26
Hide members
9.2ADCY9, EP300, CREB1, CREBBP
279.2CREBBP, CREB1, EP300, ADCY9
28
Hide members
9.2ADCY9, CREB1, CREBBP, GAS1
29
Hide members
9.1EP300, HDAC9, CREB1, CREBBP
309.1EP300, HDAC9, CREB1, CREBBP
31
Hide members
9.1CREBBP, CREB1, HDAC9, EP300
329.1CREBBP, CREB1, HDAC9, EP300
338.9EP300, CREB1, CREBBP, SAP18
34
Hide members
8.9ADCY9, EP300, CREB1, CREBBP, GAS1
35
Hide members
8.9GAS1, CREBBP, CREB1, EP300, ADCY9
368.9SAP18, CREBBP, HDAC9, EP300
378.9PDE4A, CREB1, ADCY9
38
G-protein signaling G-Protein alpha-i signaling cascades
Hide members
8.9PDE4A, CREB1, ADCY9
39
Hide members
8.9PDE4A, CREB1, ADCY9
40
Signal transduction cAMP signaling
Hide members
8.9ADCY9, CREB1, PDE4A
418.7CREBBP, CREB1, HDAC9, EP300, ADCY9
42
Hide members
8.5ADCY9, PAX6, EP300, CREB1, CREBBP, GAS1
43
Hide members
8.4GAS1, CREBBP, CREB1, HDAC9, EP300, ADCY9
44
Hide members
8.4GAS1, CREBBP, CREB1, HDAC9, EP300, ADCY9
45
Hide members
7.9ADCY9, EP300, HDAC9, CREB1, CREBBP, PDE4A

Compounds for genes affiliated with Rubinstein-Taybi Syndrome

Sources:
45Novoseek, 50PharmGKB, 29IUPHAR, 11DrugBank, 24HMDB, 60Tocris Bioscience
See all sources

Compounds related to Rubinstein-Taybi Syndrome according to GeneCards/GeneDecks:

(show all 34)
idCompoundScoreTop Affiliating Genes
1proglucagon4510.0PAX6, CREB1
2rosiglitazone45 50 29 11 2413.8CREBBP, CREB1, EP300
3adriamycin459.8EP300, HDAC9, CREBBP
4amino acid459.6CREBBP, PDE4A
52,5-dideoxyadenosine459.6CREB1, PDE4A
6sq 2253660 4510.6ADCY9, PDE4A
7curcumin459.5CREB1, HDAC9, EP300
8asparagine459.5PDE4A, CREBBP, EP300
9retinoid459.5CREBBP, CREB1, HDAC9, EP300
10etoposide45 50 60 1112.5CREBBP, CREB1, HDAC9, EP300
11butyrate459.5EP300, HDAC9, CREB1, CREBBP
12cilostazol45 1110.4CREB1, PDE4A
13okadaic acid45 6010.4HDAC9, CREB1, CREBBP
14calcitriol45 60 11 2412.3EP300, HDAC9, CREB1
15dbc-amp459.3PDE4A, CREBBP, CREB1
16acetyl-coa45 2410.3EP300, GLYATL1, CREBBP
17kt 572045 29 6011.3PDE4A, CREB1
18lead459.3PDE4A, HDAC9, EP300
19isoproterenol45 1110.1CREB1, CREBBP, PDE4A
20tamoxifen45 50 29 1112.0PDE4A, CREBBP, HDAC9, EP300
21forskolin45 50 1110.9ADCY9, CREB1, CREBBP, PDE4A
22ly294002458.9EP300, HDAC9, CREB1, PDE4A
23pd 98,059458.7PDE4A, CREBBP, CREB1, HDAC9, EP300
24glutamine458.7PDE4A, CREBBP, CREB1, HDAC9, EP300
25pge2458.7PDE4A, CREBBP, CREB1, HDAC9, EP300
26steroid458.6EP300, HDAC9, CREB1, CREBBP, PDE4A
27zinc45 249.6EP300, HDAC9, CREB1, CREBBP, PDE4A
28glucose458.5PAX6, EP300, HDAC9, CREBBP, PDE4A
29atp45 299.5PDE4A, CREBBP, CREB1, HDAC9, EP300
30progesterone45 60 29 11 2412.4PDE4A, CREBBP, HDAC9, EP300
31vegf458.3PDE4A, CREBBP, CREB1, HDAC9, EP300, PAX6
32retinoic acid45 249.3PDE4A, CREBBP, CREB1, HDAC9, EP300, PAX6
33cyclic amp45 249.3ADCY9, EP300, HDAC9, CREB1, CREBBP, PDE4A
34serine458.2PDE4A, CREBBP, CREB1, HDAC9, EP300, PAX6

GO Terms for genes affiliated with Rubinstein-Taybi Syndrome

Sources:
16Gene Ontology
See all sources

Cellular components related to Rubinstein-Taybi Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1histone acetyltransferase complexGO:0001239.7EP300, CREBBP
2histone deacetylase complexGO:0001189.4HDAC9, SAP18
3transcription factor complexGO:0056679.0EP300, HDAC9, CREB1, CREBBP

Biological processes related to Rubinstein-Taybi Syndrome according to GeneCards/GeneDecks:

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1N-terminal peptidyl-lysine acetylationGO:01807610.1CREBBP, EP300
2regulation of smoothened signaling pathwayGO:00858910.1GAS1, CREBBP
3histone acetylationGO:01657310.0SRCAP, CREBBP
4regulation of transcription from RNA polymerase II promoter in response to hypoxiaGO:06141810.0EP300, CREBBP
5positive regulation of smoothened signaling pathwayGO:0458809.9KIF7, GAS1
6negative regulation of smoothened signaling pathwayGO:0458799.8GAS1, KIF7
7pituitary gland developmentGO:0219839.4PAX6, CREB1
8modulation by virus of host morphology or physiologyGO:0190489.4SRCAP, EP300, CREB1, CREBBP
9Notch signaling pathwayGO:0072199.3EP300, HDAC9, CREB1, CREBBP

Molecular functions related to Rubinstein-Taybi Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1acetyltransferase activityGO:01640710.0EP300, CREBBP
2histone acetyltransferase activityGO:0044029.6SRCAP, EP300, CREBBP
3RNA polymerase II activating transcription factor bindingGO:0011029.5EP300, CREB1, CREBBP
4transcription factor bindingGO:0081348.9CREBBP, HDAC9, EP300, PAX6

Products for genes affiliated with Rubinstein-Taybi Syndrome

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Rubinstein-Taybi Syndrome

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet