MCID: RPL001
MIFTS: 8

Rpl11-Related Diamond-Blackfan Anemia

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

Aliases & Classifications for Rpl11-Related Diamond-Blackfan Anemia

MalaCards integrated aliases for Rpl11-Related Diamond-Blackfan Anemia:

Name: Rpl11-Related Diamond-Blackfan Anemia 24
Diamond-Blackfan Anemia 7 24 69

Classifications:



Summaries for Rpl11-Related Diamond-Blackfan Anemia

MalaCards based summary : Rpl11-Related Diamond-Blackfan Anemia, also known as diamond-blackfan anemia 7, is related to diamond-blackfan anemia 7. An important gene associated with Rpl11-Related Diamond-Blackfan Anemia is RPL11 (Ribosomal Protein L11).

Symptoms & Phenotypes for Rpl11-Related Diamond-Blackfan Anemia

Drugs & Therapeutics for Rpl11-Related Diamond-Blackfan Anemia

Search Clinical Trials , NIH Clinical Center for Rpl11-Related Diamond-Blackfan Anemia

Genetic Tests for Rpl11-Related Diamond-Blackfan Anemia

Genetic tests related to Rpl11-Related Diamond-Blackfan Anemia:

id Genetic test Affiliating Genes
1 Rpl11-Related Diamond-Blackfan Anemia 24 RPL11

Anatomical Context for Rpl11-Related Diamond-Blackfan Anemia

Publications for Rpl11-Related Diamond-Blackfan Anemia

Variations for Rpl11-Related Diamond-Blackfan Anemia

ClinVar genetic disease variations for Rpl11-Related Diamond-Blackfan Anemia:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 RPL11 NM_000975.4(RPL11): c.223C> T (p.Arg75Ter) single nucleotide variant Pathogenic rs121434389 GRCh37 Chromosome 1, 24020362: 24020362
2 RPL11 RPL11, 2-BP DEL, 60CT deletion Pathogenic
3 RPL11 RPL11, 3-BP DEL, 482AGG deletion Pathogenic
4 RPL11 RPL11, IVS2AS, G-A, -1 single nucleotide variant Pathogenic
5 RPL11 NM_000975.4(RPL11): c.476_477delAA (p.Lys159Argfs) deletion Pathogenic rs587777119 GRCh37 Chromosome 1, 24022367: 24022368
6 RPL11 NM_000975.4(RPL11): c.204delT (p.Ile68Metfs) deletion Pathogenic rs587777120 GRCh37 Chromosome 1, 24020343: 24020343

Expression for Rpl11-Related Diamond-Blackfan Anemia

Search GEO for disease gene expression data for Rpl11-Related Diamond-Blackfan Anemia.

Pathways for Rpl11-Related Diamond-Blackfan Anemia

GO Terms for Rpl11-Related Diamond-Blackfan Anemia

Sources for Rpl11-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
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