MCID: PRR032
MIFTS: 5

Pura-Related Neurodevelopmental Disorders

Categories: Neuronal diseases

Aliases & Classifications for Pura-Related Neurodevelopmental Disorders

MalaCards integrated aliases for Pura-Related Neurodevelopmental Disorders:

Name: Pura-Related Neurodevelopmental Disorders 24

Characteristics:

GeneReviews:

24
Penetrance To the authors' knowledge, the penetrance of all intragenic pura pathogenic variants and 5q31.3 deletions encompassing pura is complete.

Classifications:



Summaries for Pura-Related Neurodevelopmental Disorders

MalaCards based summary : Pura-Related Neurodevelopmental Disorders is related to pura syndrome and mental retardation, autosomal dominant 31. An important gene associated with Pura-Related Neurodevelopmental Disorders is PURA (Purine Rich Element Binding Protein A).

GeneReviews: NBK426063

Related Diseases for Pura-Related Neurodevelopmental Disorders

Diseases related to Pura-Related Neurodevelopmental Disorders via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 pura syndrome 12.1
2 mental retardation, autosomal dominant 31 10.2
3 scoliosis 10.2
4 dystonia 10.2
5 dysphagia 10.2
6 hypotonia 10.2

Graphical network of the top 20 diseases related to Pura-Related Neurodevelopmental Disorders:



Diseases related to Pura-Related Neurodevelopmental Disorders

Symptoms & Phenotypes for Pura-Related Neurodevelopmental Disorders

Drugs & Therapeutics for Pura-Related Neurodevelopmental Disorders

Search Clinical Trials , NIH Clinical Center for Pura-Related Neurodevelopmental Disorders

Genetic Tests for Pura-Related Neurodevelopmental Disorders

Anatomical Context for Pura-Related Neurodevelopmental Disorders

Publications for Pura-Related Neurodevelopmental Disorders

Articles related to Pura-Related Neurodevelopmental Disorders:

# Title Authors PMID Year
1
PURA-Related Neurodevelopmental Disorders 38
28448108 2017

Variations for Pura-Related Neurodevelopmental Disorders

Expression for Pura-Related Neurodevelopmental Disorders

Search GEO for disease gene expression data for Pura-Related Neurodevelopmental Disorders.

Pathways for Pura-Related Neurodevelopmental Disorders

GO Terms for Pura-Related Neurodevelopmental Disorders

Sources for Pura-Related Neurodevelopmental Disorders

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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