MCID: RPS007
MIFTS: 9

Rps26-Related Diamond-Blackfan Anemia

Categories: Genetic diseases, Rare diseases, Metabolic diseases, Fetal diseases, Blood diseases

Aliases & Classifications for Rps26-Related Diamond-Blackfan Anemia

MalaCards integrated aliases for Rps26-Related Diamond-Blackfan Anemia:

Name: Rps26-Related Diamond-Blackfan Anemia 24
Diamond-Blackfan Anemia 10 24 69
Dba10 24

Classifications:



Summaries for Rps26-Related Diamond-Blackfan Anemia

MalaCards based summary : Rps26-Related Diamond-Blackfan Anemia, also known as diamond-blackfan anemia 10, is related to diamond-blackfan anemia 10. An important gene associated with Rps26-Related Diamond-Blackfan Anemia is RPS26 (Ribosomal Protein S26).

Symptoms & Phenotypes for Rps26-Related Diamond-Blackfan Anemia

Drugs & Therapeutics for Rps26-Related Diamond-Blackfan Anemia

Search Clinical Trials , NIH Clinical Center for Rps26-Related Diamond-Blackfan Anemia

Genetic Tests for Rps26-Related Diamond-Blackfan Anemia

Genetic tests related to Rps26-Related Diamond-Blackfan Anemia:

id Genetic test Affiliating Genes
1 Rps26-Related Diamond-Blackfan Anemia 24 RPS26

Anatomical Context for Rps26-Related Diamond-Blackfan Anemia

Publications for Rps26-Related Diamond-Blackfan Anemia

Variations for Rps26-Related Diamond-Blackfan Anemia

ClinVar genetic disease variations for Rps26-Related Diamond-Blackfan Anemia:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 RPS26 NM_001029.4(RPS26): c.1A> G (p.Met1Val) single nucleotide variant Pathogenic rs143951267 GRCh37 Chromosome 12, 56435951: 56435951
2 RPS26 NM_001029.4(RPS26): c.1A> T (p.Met1Leu) single nucleotide variant Pathogenic rs143951267 GRCh37 Chromosome 12, 56435951: 56435951
3 RPS26 NM_001029.4(RPS26): c.97G> A (p.Asp33Asn) single nucleotide variant Pathogenic rs267607023 GRCh37 Chromosome 12, 56436302: 56436302
4 RPS26 NM_001029.4(RPS26): c.31dup (p.Ala11Glyfs) duplication Pathogenic rs786200892 GRCh38 Chromosome 12, 56042452: 56042452
5 RPS26 NM_001029.4(RPS26): c.3+1G> A single nucleotide variant Pathogenic rs148622862 GRCh37 Chromosome 12, 56435954: 56435954
6 RPS26 NC_000012.12: g.56031044_56051500del20457 deletion Pathogenic GRCh37 Chromosome 12, 56424828: 56445284
7 RPS26 NM_001029.4(RPS26): c.259C> T (p.Arg87Ter) single nucleotide variant Pathogenic rs148942765 GRCh37 Chromosome 12, 56437224: 56437224
8 RPS26 NM_001029.4(RPS26): c.4-2A> T single nucleotide variant Pathogenic rs786203998 GRCh37 Chromosome 12, 56436207: 56436207
9 RPS26 NM_001029.4(RPS26): c.55C> T (p.Gln19Ter) single nucleotide variant Pathogenic rs797045919 GRCh38 Chromosome 12, 56042476: 56042476

Expression for Rps26-Related Diamond-Blackfan Anemia

Search GEO for disease gene expression data for Rps26-Related Diamond-Blackfan Anemia.

Pathways for Rps26-Related Diamond-Blackfan Anemia

GO Terms for Rps26-Related Diamond-Blackfan Anemia

Sources for Rps26-Related Diamond-Blackfan Anemia

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
Content
Loading form....