DBA19
MCID: DMN048
MIFTS: 9

Diamond-Blackfan Anemia 19 (DBA19)

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

Aliases & Classifications for Diamond-Blackfan Anemia 19

MalaCards integrated aliases for Diamond-Blackfan Anemia 19:

Name: Diamond-Blackfan Anemia 19 58 6
Dba19 58

Classifications:



External Ids:

OMIM 58 618312

Summaries for Diamond-Blackfan Anemia 19

MalaCards based summary : Diamond-Blackfan Anemia 19, is also known as dba19. An important gene associated with Diamond-Blackfan Anemia 19 is RPL35 (Ribosomal Protein L35).

Description from OMIM: 618312

Related Diseases for Diamond-Blackfan Anemia 19

Symptoms & Phenotypes for Diamond-Blackfan Anemia 19

Clinical features from OMIM:

618312

Drugs & Therapeutics for Diamond-Blackfan Anemia 19

Search Clinical Trials , NIH Clinical Center for Diamond-Blackfan Anemia 19

Genetic Tests for Diamond-Blackfan Anemia 19

Anatomical Context for Diamond-Blackfan Anemia 19

Publications for Diamond-Blackfan Anemia 19

Variations for Diamond-Blackfan Anemia 19

ClinVar genetic disease variations for Diamond-Blackfan Anemia 19:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 RPL35 NM_007209.4(RPL35): c.231G> C (p.Lys77Asn) single nucleotide variant Pathogenic GRCh37 Chromosome 9, 127620338: 127620338
2 RPL35 NM_007209.4(RPL35): c.231G> C (p.Lys77Asn) single nucleotide variant Pathogenic GRCh38 Chromosome 9, 124858059: 124858059

Expression for Diamond-Blackfan Anemia 19

Search GEO for disease gene expression data for Diamond-Blackfan Anemia 19.

Pathways for Diamond-Blackfan Anemia 19

GO Terms for Diamond-Blackfan Anemia 19

Sources for Diamond-Blackfan Anemia 19

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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