MCID: EP3001
MIFTS: 8

Ep300-Related Rubinstein-Taybi Syndrome

Categories: Genetic diseases, Neuronal diseases, Eye diseases, Nephrological diseases, Bone diseases, Endocrine diseases, Fetal diseases, Rare diseases, Mental diseases, Smell/Taste diseases

Aliases & Classifications for Ep300-Related Rubinstein-Taybi Syndrome

MalaCards integrated aliases for Ep300-Related Rubinstein-Taybi Syndrome:

Name: Ep300-Related Rubinstein-Taybi Syndrome 24
Ep300-Related Broad Thumbs-Hallux Syndrome 24

Classifications:



Summaries for Ep300-Related Rubinstein-Taybi Syndrome

MalaCards based summary : Ep300-Related Rubinstein-Taybi Syndrome, is also known as ep300-related broad thumbs-hallux syndrome. An important gene associated with Ep300-Related Rubinstein-Taybi Syndrome is EP300 (E1A Binding Protein P300).

Related Diseases for Ep300-Related Rubinstein-Taybi Syndrome

Symptoms & Phenotypes for Ep300-Related Rubinstein-Taybi Syndrome

Drugs & Therapeutics for Ep300-Related Rubinstein-Taybi Syndrome

Search Clinical Trials , NIH Clinical Center for Ep300-Related Rubinstein-Taybi Syndrome

Genetic Tests for Ep300-Related Rubinstein-Taybi Syndrome

Genetic tests related to Ep300-Related Rubinstein-Taybi Syndrome:

id Genetic test Affiliating Genes
1 Ep300-Related Rubinstein-Taybi Syndrome 24 EP300

Anatomical Context for Ep300-Related Rubinstein-Taybi Syndrome

Publications for Ep300-Related Rubinstein-Taybi Syndrome

Articles related to Ep300-Related Rubinstein-Taybi Syndrome:

id Title Authors Year
1
Expanding the phenotypic spectrum in EP300-related Rubinstein-Taybi syndrome. ( 25712426 )
2015

Variations for Ep300-Related Rubinstein-Taybi Syndrome

Expression for Ep300-Related Rubinstein-Taybi Syndrome

Search GEO for disease gene expression data for Ep300-Related Rubinstein-Taybi Syndrome.

Pathways for Ep300-Related Rubinstein-Taybi Syndrome

GO Terms for Ep300-Related Rubinstein-Taybi Syndrome

Sources for Ep300-Related Rubinstein-Taybi Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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