MCID: RPL002
MIFTS: 8

Rpl35a-Related Diamond-Blackfan Anemia

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

Aliases & Classifications for Rpl35a-Related Diamond-Blackfan Anemia

MalaCards integrated aliases for Rpl35a-Related Diamond-Blackfan Anemia:

Name: Rpl35a-Related Diamond-Blackfan Anemia 24
Diamond-Blackfan Anemia 5 24 69

Classifications:



Summaries for Rpl35a-Related Diamond-Blackfan Anemia

MalaCards based summary : Rpl35a-Related Diamond-Blackfan Anemia, also known as diamond-blackfan anemia 5, is related to diamond-blackfan anemia 5. An important gene associated with Rpl35a-Related Diamond-Blackfan Anemia is RPL35A (Ribosomal Protein L35a).

Symptoms & Phenotypes for Rpl35a-Related Diamond-Blackfan Anemia

Drugs & Therapeutics for Rpl35a-Related Diamond-Blackfan Anemia

Search Clinical Trials , NIH Clinical Center for Rpl35a-Related Diamond-Blackfan Anemia

Genetic Tests for Rpl35a-Related Diamond-Blackfan Anemia

Genetic tests related to Rpl35a-Related Diamond-Blackfan Anemia:

id Genetic test Affiliating Genes
1 Rpl35a-Related Diamond-Blackfan Anemia 24 RPL35A

Anatomical Context for Rpl35a-Related Diamond-Blackfan Anemia

Publications for Rpl35a-Related Diamond-Blackfan Anemia

Variations for Rpl35a-Related Diamond-Blackfan Anemia

ClinVar genetic disease variations for Rpl35a-Related Diamond-Blackfan Anemia:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 RPL35A NM_000996.2(RPL35A): c.97G> A (p.Val33Ile) single nucleotide variant Pathogenic rs116840808 GRCh37 Chromosome 3, 197678115: 197678115
2 RPL35A NM_000996.2(RPL35A): c.82_84delCTT (p.Leu28del) deletion Pathogenic rs116840807 GRCh37 Chromosome 3, 197678100: 197678102
3 RPL35A NM_000996.2(RPL35A): c.304C> T (p.Arg102Ter) single nucleotide variant Pathogenic rs116840809 GRCh37 Chromosome 3, 197681013: 197681013

Expression for Rpl35a-Related Diamond-Blackfan Anemia

Search GEO for disease gene expression data for Rpl35a-Related Diamond-Blackfan Anemia.

Pathways for Rpl35a-Related Diamond-Blackfan Anemia

GO Terms for Rpl35a-Related Diamond-Blackfan Anemia

Sources for Rpl35a-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
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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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