DI
MCID: BLD166
MIFTS: 12

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 57
Blood Group--Diego System 29
Diego Blood Group System 57
Di 57

Classifications:



External Ids:

OMIM 57 110500

Summaries for Blood Group, Diego System

OMIM : 57 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

Inferred drug relations via UMLS 73 / NDF-RT 51 :


Genetic Tests for Blood Group, Diego System

Genetic tests related to Blood Group, Diego System:

# Genetic test Affiliating Genes
1 Blood Group--Diego System 29 SLC4A1

Anatomical Context for Blood Group, Diego System

Publications for Blood Group, Diego System

Variations for Blood Group, Diego System

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 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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