SW
MCID: BLD153
MIFTS: 11

Blood Group--Swann System (SW)

Categories: Blood diseases, Genetic diseases

Aliases & Classifications for Blood Group--Swann System

MalaCards integrated aliases for Blood Group--Swann System:

Name: Blood Group--Swann System 57 29 6
Sw 57

Classifications:



External Ids:

OMIM® 57 601550

Summaries for Blood Group--Swann System

OMIM® : 57 The low-incidence red cell antigen Sw(a) of the Swann blood group system was described by Cleghorn (1959). It was shown to be inherited as an autosomal dominant trait and, although it was not very polymorphic in the general population, sizable kindreds segregating for the SW locus were identified (Lewis et al., 1988). (601550) (Updated 05-Apr-2021)

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

Related Diseases for Blood Group--Swann System

Symptoms & Phenotypes for Blood Group--Swann System

Clinical features from OMIM®:

601550 (Updated 05-Apr-2021)

Drugs & Therapeutics for Blood Group--Swann System

Search Clinical Trials , NIH Clinical Center for Blood Group--Swann System

Genetic Tests for Blood Group--Swann System

Genetic tests related to Blood Group--Swann System:

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

Anatomical Context for Blood Group--Swann System

Publications for Blood Group--Swann System

Articles related to Blood Group--Swann System:

# Title Authors PMID Year
1
An amino acid substitution in the putative second extracellular loop of RBC band 3 accounts for the Froese blood group polymorphism. 57
11061863 2000
2
Distinctive Swann blood group genotypes: molecular investigations. 57
11155072 2000
3
Assignment of the gene(s) governing Froese and Swann blood group polymorphism to chromosome 17q. 57
8693505 1996
4
Blood group terminology 1995. ISBT Working Party on terminology for red cell surface antigens. 57
8578746 1995
5
The Swann phenotype 700:4,-41; genetic studies. 57
3369142 1988
6
A 'new' human blood group antigen, Sw a. 57
13810613 1959

Variations for Blood Group--Swann System

ClinVar genetic disease variations for Blood Group--Swann System:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SLC4A1 NM_000342.4(SLC4A1):c.1765C>T (p.Arg589Cys) SNV Pathogenic 17764 rs121912745 GRCh37: 17:42333076-42333076
GRCh38: 17:44255708-44255708

Expression for Blood Group--Swann System

Search GEO for disease gene expression data for Blood Group--Swann System.

Pathways for Blood Group--Swann System

GO Terms for Blood Group--Swann System

Sources for Blood Group--Swann System

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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