DI
MCID: BLD166
MIFTS: 9

Blood Group, Diego System (DI)

Categories: Blood diseases, Genetic diseases

Aliases & Classifications for Blood Group, Diego System

MalaCards integrated aliases for Blood Group, Diego System:

Name: Blood Group, Diego System 58
Blood Group--Diego System 30 6
Diego Blood Group System 58
Di 58

Classifications:



External Ids:

OMIM 58 110500

Summaries for Blood Group, Diego System

OMIM : 58 The Diego blood group system consists of 2 pairs of antithetical antigens, Di(a) and Di(b) and Wr(a) and Wr(b), and at least 17 low-frequency antigens that result from amino acid substitutions in SLC4A1, which encodes the erythrocyte band-3 protein. The low-frequency Di(a) and high-frequency Di(b) antigens represent leu854 and pro854, respectively. The low-frequency Wr(a) and high-frequency Wr(b) antigens represent lys658 and glu658, respectively. No healthy person with a Diego-null phenotype has been reported, reflecting the functional importance of SLC4A1 (summary by Daniel, 2002). (110500)

MalaCards based summary : Blood Group, Diego System, is also known as blood group--diego system. An important gene associated with Blood Group, Diego System is SLC4A1 (Solute Carrier Family 4 Member 1 (Diego Blood Group)).

Related Diseases for Blood Group, Diego System

Symptoms & Phenotypes for Blood Group, Diego System

Clinical features from OMIM:

110500

Drugs & Therapeutics for Blood Group, Diego System

Search Clinical Trials , NIH Clinical Center for Blood Group, Diego System

Genetic Tests for Blood Group, Diego System

Genetic tests related to Blood Group, Diego System:

# Genetic test Affiliating Genes
1 Blood Group--Diego System 30 SLC4A1

Anatomical Context for Blood Group, Diego System

Publications for Blood Group, Diego System

Variations for Blood Group, Diego System

ClinVar genetic disease variations for Blood Group, Diego System:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 SLC4A1 NM_000342.3(SLC4A1): c.1765C> T (p.Arg589Cys) single nucleotide variant Pathogenic rs121912745 GRCh38 Chromosome 17, 44255708: 44255708
2 SLC4A1 NM_000342.3(SLC4A1): c.1765C> T (p.Arg589Cys) single nucleotide variant Pathogenic rs121912745 GRCh37 Chromosome 17, 42333076: 42333076

Expression for Blood Group, Diego System

Search GEO for disease gene expression data for Blood Group, Diego System.

Pathways for Blood Group, Diego System

GO Terms for Blood Group, Diego System

Sources for Blood Group, Diego System

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
Content
Loading form....