MCID: TRS023
MIFTS: 6

Trs2-Related Diamond-Blackfan Anemia with Mandibulofacial Dysostosis

Categories: Genetic diseases

Aliases & Classifications for Trs2-Related Diamond-Blackfan Anemia with Mandibulofacial...

MalaCards integrated aliases for Trs2-Related Diamond-Blackfan Anemia with Mandibulofacial Dysostosis:

Name: Trs2-Related Diamond-Blackfan Anemia with Mandibulofacial Dysostosis 24
Diamond-Blackfan Anemia 14 with Mandibulofacial Dysostosis 24
Dba14 24

Classifications:



Summaries for Trs2-Related Diamond-Blackfan Anemia with Mandibulofacial...

MalaCards based summary : Trs2-Related Diamond-Blackfan Anemia with Mandibulofacial Dysostosis, also known as diamond-blackfan anemia 14 with mandibulofacial dysostosis, is related to diamond-blackfan anemia 14 with mandibulofacial dysostosis. An important gene associated with Trs2-Related Diamond-Blackfan Anemia with Mandibulofacial Dysostosis is TSR2 (TSR2, Ribosome Maturation Factor).

Related Diseases for Trs2-Related Diamond-Blackfan Anemia with Mandibulofacial...

Diseases in the Diamond Blackfan Anemia 15 with Mandibulofacial Dysostosis family:

Diamond-Blackfan Anemia 14 with Mandibulofacial Dysostosis Trs2-Related Diamond-Blackfan Anemia with Mandibulofacial Dysostosis

Diseases related to Trs2-Related Diamond-Blackfan Anemia with Mandibulofacial Dysostosis via text searches within MalaCards or GeneCards Suite gene sharing:

id Related Disease Score Top Affiliating Genes
1 diamond-blackfan anemia 14 with mandibulofacial dysostosis 12.7

Symptoms & Phenotypes for Trs2-Related Diamond-Blackfan Anemia with Mandibulofacial...

Drugs & Therapeutics for Trs2-Related Diamond-Blackfan Anemia with Mandibulofacial...

Search Clinical Trials , NIH Clinical Center for Trs2-Related Diamond-Blackfan Anemia with Mandibulofacial Dysostosis

Genetic Tests for Trs2-Related Diamond-Blackfan Anemia with Mandibulofacial...

Genetic tests related to Trs2-Related Diamond-Blackfan Anemia with Mandibulofacial Dysostosis:

id Genetic test Affiliating Genes
1 Trs2-Related Diamond-Blackfan Anemia with Mandibulofacial Dysostosis 24 TSR2

Anatomical Context for Trs2-Related Diamond-Blackfan Anemia with Mandibulofacial...

Publications for Trs2-Related Diamond-Blackfan Anemia with Mandibulofacial...

Variations for Trs2-Related Diamond-Blackfan Anemia with Mandibulofacial...

ClinVar genetic disease variations for Trs2-Related Diamond-Blackfan Anemia with Mandibulofacial Dysostosis:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 TSR2 NM_058163.2(TSR2): c.191A> G (p.Glu64Gly) single nucleotide variant Pathogenic rs786203996 GRCh37 Chromosome X, 54469851: 54469851

Expression for Trs2-Related Diamond-Blackfan Anemia with Mandibulofacial...

Search GEO for disease gene expression data for Trs2-Related Diamond-Blackfan Anemia with Mandibulofacial Dysostosis.

Pathways for Trs2-Related Diamond-Blackfan Anemia with Mandibulofacial...

GO Terms for Trs2-Related Diamond-Blackfan Anemia with Mandibulofacial...

Sources for Trs2-Related Diamond-Blackfan Anemia with Mandibulofacial...

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
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42 MeSH
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48 NDF-RT
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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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