MCID: RPS005
MIFTS: 10

Rps19-Related Diamond-Blackfan Anemia

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

Aliases & Classifications for Rps19-Related Diamond-Blackfan Anemia

MalaCards integrated aliases for Rps19-Related Diamond-Blackfan Anemia:

Name: Rps19-Related Diamond-Blackfan Anemia 24
Diamond-Blackfan Anemia 1 24 69
Congenital Hypoplastic Anemia of Blackfan and Diamond 24
Blackfan-Diamond Syndrome 24
Anemia, Diamond-Blackfan 69

Classifications:



Summaries for Rps19-Related Diamond-Blackfan Anemia

MalaCards based summary : Rps19-Related Diamond-Blackfan Anemia, also known as diamond-blackfan anemia 1, is related to diamond-blackfan anemia 1 and diamond-blackfan anemia. An important gene associated with Rps19-Related Diamond-Blackfan Anemia is RPS19 (Ribosomal Protein S19).

Symptoms & Phenotypes for Rps19-Related Diamond-Blackfan Anemia

Drugs & Therapeutics for Rps19-Related Diamond-Blackfan Anemia

Search Clinical Trials , NIH Clinical Center for Rps19-Related Diamond-Blackfan Anemia

Genetic Tests for Rps19-Related Diamond-Blackfan Anemia

Genetic tests related to Rps19-Related Diamond-Blackfan Anemia:

id Genetic test Affiliating Genes
1 Rps19-Related Diamond-Blackfan Anemia 24 RPS19

Anatomical Context for Rps19-Related Diamond-Blackfan Anemia

Publications for Rps19-Related Diamond-Blackfan Anemia

Variations for Rps19-Related Diamond-Blackfan Anemia

ClinVar genetic disease variations for Rps19-Related Diamond-Blackfan Anemia:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 RPS19 NM_001022.3(RPS19): c.280C> T (p.Arg94Ter) single nucleotide variant Pathogenic rs61762293 GRCh37 Chromosome 19, 42373208: 42373208
2 RPS19 NM_001022.3(RPS19): c.184C> T (p.Arg62Trp) single nucleotide variant Pathogenic rs104894711 GRCh37 Chromosome 19, 42373112: 42373112
3 RPS19 NM_001022.3(RPS19): c.98G> A (p.Trp33Ter) single nucleotide variant Pathogenic rs104894716 GRCh37 Chromosome 19, 42365207: 42365207
4 RPS19 NM_001022.3(RPS19): c.250A> T (p.Arg84Ter) single nucleotide variant Pathogenic rs121908649 GRCh37 Chromosome 19, 42373178: 42373178
5 RPS19 NM_001022.3(RPS19): c.307delG (p.Val103Serfs) deletion Pathogenic rs786200935 GRCh37 Chromosome 19, 42373235: 42373235
6 RPS19 RPS19, LEU45GLN AND 2-BP INS, 160CT insertion Pathogenic
7 RPS19 NM_001022.3(RPS19): c.380G> A (p.Gly127Glu) single nucleotide variant Pathogenic rs786200936 GRCh38 Chromosome 19, 41869722: 41869722
8 RPS19 NC_000019.8: g.47056452_47061521del5070 deletion Pathogenic GRCh37 Chromosome 19, 42364612: 42369681

Expression for Rps19-Related Diamond-Blackfan Anemia

Search GEO for disease gene expression data for Rps19-Related Diamond-Blackfan Anemia.

Pathways for Rps19-Related Diamond-Blackfan Anemia

GO Terms for Rps19-Related Diamond-Blackfan Anemia

Sources for Rps19-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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