MCID: RPS004
MIFTS: 8

Rps17-Related Diamond-Blackfan Anemia

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

Aliases & Classifications for Rps17-Related Diamond-Blackfan Anemia

MalaCards integrated aliases for Rps17-Related Diamond-Blackfan Anemia:

Name: Rps17-Related Diamond-Blackfan Anemia 24
Diamond-Blackfan Anemia 4 24 69

Classifications:



Summaries for Rps17-Related Diamond-Blackfan Anemia

MalaCards based summary : Rps17-Related Diamond-Blackfan Anemia, also known as diamond-blackfan anemia 4, is related to diamond-blackfan anemia 4. An important gene associated with Rps17-Related Diamond-Blackfan Anemia is RPS17 (Ribosomal Protein S17).

Symptoms & Phenotypes for Rps17-Related Diamond-Blackfan Anemia

Drugs & Therapeutics for Rps17-Related Diamond-Blackfan Anemia

Search Clinical Trials , NIH Clinical Center for Rps17-Related Diamond-Blackfan Anemia

Genetic Tests for Rps17-Related Diamond-Blackfan Anemia

Genetic tests related to Rps17-Related Diamond-Blackfan Anemia:

id Genetic test Affiliating Genes
1 Rps17-Related Diamond-Blackfan Anemia 24 RPS17

Anatomical Context for Rps17-Related Diamond-Blackfan Anemia

Publications for Rps17-Related Diamond-Blackfan Anemia

Variations for Rps17-Related Diamond-Blackfan Anemia

ClinVar genetic disease variations for Rps17-Related Diamond-Blackfan Anemia:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 RPS17 NM_001021.5(RPS17): c.2T> G (p.Met1Arg) single nucleotide variant Pathogenic rs116840811 GRCh37 Chromosome 15, 82824835: 82824835
2 RPS17 NM_001021.5(RPS17): c.200_201delGA (p.Gly68Tyrfs) deletion Pathogenic rs116840812 GRCh37 Chromosome 15, 82823348: 82823349
3 RPS17 RPS17, 2.9-KB DEL deletion Pathogenic
4 RPS17 NM_001021.5(RPS17): c.159T> G (p.Tyr53Ter) single nucleotide variant Pathogenic rs6991 GRCh37 Chromosome 15, 82823390: 82823390

Expression for Rps17-Related Diamond-Blackfan Anemia

Search GEO for disease gene expression data for Rps17-Related Diamond-Blackfan Anemia.

Pathways for Rps17-Related Diamond-Blackfan Anemia

GO Terms for Rps17-Related Diamond-Blackfan Anemia

Sources for Rps17-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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