MCID: ATR094
MIFTS: 5

Atr-X-Related Syndrome

Categories: Fetal diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Atr-X-Related Syndrome

MalaCards integrated aliases for Atr-X-Related Syndrome:

Name: Atr-X-Related Syndrome 58 6

Classifications:

Orphanet: 58  
Rare neurological diseases
Developmental anomalies during embryogenesis


External Ids:

Orphanet 58 ORPHA263355

Summaries for Atr-X-Related Syndrome

MalaCards based summary : Atr-X-Related Syndrome An important gene associated with Atr-X-Related Syndrome is ATR (ATR Serine/Threonine Kinase).

Related Diseases for Atr-X-Related Syndrome

Symptoms & Phenotypes for Atr-X-Related Syndrome

Drugs & Therapeutics for Atr-X-Related Syndrome

Search Clinical Trials , NIH Clinical Center for Atr-X-Related Syndrome

Genetic Tests for Atr-X-Related Syndrome

Anatomical Context for Atr-X-Related Syndrome

Publications for Atr-X-Related Syndrome

Variations for Atr-X-Related Syndrome

ClinVar genetic disease variations for Atr-X-Related Syndrome:

6 ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 ATR NM_001184.4(ATR):c.3152G>A (p.Arg1051His)SNV Uncertain significance 587606 rs770645649 3:142268340-142268340 3:142549498-142549498

Expression for Atr-X-Related Syndrome

Search GEO for disease gene expression data for Atr-X-Related Syndrome.

Pathways for Atr-X-Related Syndrome

GO Terms for Atr-X-Related Syndrome

Sources for Atr-X-Related Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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