MER2
MCID: RPH001
MIFTS: 14

Raph Blood Group System (MER2)

Categories: Blood diseases, Genetic diseases

Aliases & Classifications for Raph Blood Group System

MalaCards integrated aliases for Raph Blood Group System:

Name: Raph Blood Group System 57 29
Mer2 Blood Cell Antigen Expression; Mer2 57
Mer2 Blood Cell Antigen Expression 57
Blood Group System, Raph 39
Mer2 57

Classifications:



External Ids:

OMIM® 57 179620

Summaries for Raph Blood Group System

MalaCards based summary : Raph Blood Group System, also known as mer2 blood cell antigen expression; mer2, is related to branchiootic syndrome 1 and nephropathy with pretibial epidermolysis bullosa and deafness. An important gene associated with Raph Blood Group System is CD151 (CD151 Molecule (Raph Blood Group)). Affiliated tissues include kidney and skin.

More information from OMIM: 179620

Related Diseases for Raph Blood Group System

Diseases related to Raph Blood Group System via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 branchiootic syndrome 1 10.3
2 nephropathy with pretibial epidermolysis bullosa and deafness 10.2
3 thalassemia minor 10.2
4 epidermolysis bullosa 10.2
5 thalassemia 10.2
6 myotonic dystrophy 10.0

Graphical network of the top 20 diseases related to Raph Blood Group System:



Diseases related to Raph Blood Group System

Symptoms & Phenotypes for Raph Blood Group System

Clinical features from OMIM®:

179620 (Updated 20-May-2021)

Drugs & Therapeutics for Raph Blood Group System

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

Genetic Tests for Raph Blood Group System

Genetic tests related to Raph Blood Group System:

# Genetic test Affiliating Genes
1 Raph Blood Group System 29 CD151

Anatomical Context for Raph Blood Group System

MalaCards organs/tissues related to Raph Blood Group System:

40
Kidney, Skin

Publications for Raph Blood Group System

Articles related to Raph Blood Group System:

# Title Authors PMID Year
1
CD151, the first member of the tetraspanin (TM4) superfamily detected on erythrocytes, is essential for the correct assembly of human basement membranes in kidney and skin. 57
15265795 2004
2
Occurrence of hereditary nephritis, pretibial epidermolysis bullosa and beta-thalassemia minor in two siblings with end-stage renal disease. 57
3412548 1988
3
Human alloantibodies detecting a red cell antigen apparently identical to MER2. 57
3238950 1988
4
MER2: a red cell polymorphism defined by monoclonal antibodies. 57
3604155 1987
5
An update on the RAPH blood group system. 61
32667818 2020
6
Raph blood group system. 61
25238243 2014
7
Two MER2-negative individuals with the same novel CD151 mutation and evidence for clinical significance of anti-MER2. 61
18522704 2008

Variations for Raph Blood Group System

Expression for Raph Blood Group System

Search GEO for disease gene expression data for Raph Blood Group System.

Pathways for Raph Blood Group System

GO Terms for Raph Blood Group System

Sources for Raph Blood Group 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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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