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 59 6

Classifications:



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Orphanet 59 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 Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 ATR NM_001184.4(ATR): c.3152G> A (p.Arg1051His) single nucleotide variant Uncertain significance 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 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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