MCID: TCL029
MIFTS: 18

T Cell and Nk Cell Immunodeficiency

Categories: Immune diseases

Aliases & Classifications for T Cell and Nk Cell Immunodeficiency

MalaCards integrated aliases for T Cell and Nk Cell Immunodeficiency:

Name: T Cell and Nk Cell Immunodeficiency 12 15

Classifications:



External Ids:

Disease Ontology 12 DOID:0080710

Summaries for T Cell and Nk Cell Immunodeficiency

Disease Ontology : 12 A primary immunodeficiency disease that involves multiple components of the immune system, including both T cell and NK cell immunodeficiency.

MalaCards based summary : T Cell and Nk Cell Immunodeficiency is related to immunodeficiency 10 and immunodeficiency 30. An important gene associated with T Cell and Nk Cell Immunodeficiency is STIM2 (Stromal Interaction Molecule 2), and among its related pathways/superpathways are Cardiac conduction and Downstream signaling events of B Cell Receptor (BCR).

Related Diseases for T Cell and Nk Cell Immunodeficiency

Graphical network of the top 20 diseases related to T Cell and Nk Cell Immunodeficiency:



Diseases related to T Cell and Nk Cell Immunodeficiency

Symptoms & Phenotypes for T Cell and Nk Cell Immunodeficiency

Drugs & Therapeutics for T Cell and Nk Cell Immunodeficiency

Search Clinical Trials , NIH Clinical Center for T Cell and Nk Cell Immunodeficiency

Genetic Tests for T Cell and Nk Cell Immunodeficiency

Anatomical Context for T Cell and Nk Cell Immunodeficiency

Publications for T Cell and Nk Cell Immunodeficiency

Variations for T Cell and Nk Cell Immunodeficiency

Expression for T Cell and Nk Cell Immunodeficiency

Search GEO for disease gene expression data for T Cell and Nk Cell Immunodeficiency.

Pathways for T Cell and Nk Cell Immunodeficiency

Pathways related to T Cell and Nk Cell Immunodeficiency according to GeneCards Suite gene sharing:

(show all 12)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.56 TRPC1 STIM1 ORAI2 ORAI1 CACNA1C
2
Show member pathways
12.42 TRPC1 STIM1 ORAI2 ORAI1
3
Show member pathways
12.25 TRPC6 TRPC4 TRPC3 TRPC1
4 11.93 TRPC6 TRPC4 TRPC3 TRPC1
5
Show member pathways
11.83 TRPC6 TRPC3 STIM1 ORAI2 ORAI1
6 11.81 STIM2 STIM1 ORAI3 ORAI2 ORAI1 CACNA1C
7
Show member pathways
11.65 TRPC1 STIM1 ORAI2 ORAI1
8
Show member pathways
11.44 TRPC6 TRPC4 TRPC3 TRPC1
9 11.39 TRPC4 TRPC1 CACNA1C
10 11.03 TRPC6 TRPC3
11
Show member pathways
11 TRPC6 TRPC3
12 10.32 TRPC6 TRPC4 TRPC3 TRPC1

GO Terms for T Cell and Nk Cell Immunodeficiency

Cellular components related to T Cell and Nk Cell Immunodeficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 integral component of membrane GO:0016021 9.9 TRPC6 TRPC4 TRPC3 TRPC1 SYPL2 STIM2
2 integral component of plasma membrane GO:0005887 9.5 TRPC6 TRPC4 TRPC3 TRPC1 STIM1 ORAI1
3 plasma membrane raft GO:0044853 9.32 STIM1 ORAI1
4 calcium channel complex GO:0034704 9.26 TRPC4 ORAI1
5 cation channel complex GO:0034703 8.92 TRPC6 TRPC4 TRPC3 TRPC1

Biological processes related to T Cell and Nk Cell Immunodeficiency according to GeneCards Suite gene sharing:

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 ion transport GO:0006811 9.92 TRPC6 TRPC4 TRPC3 TRPC1 STIM2 STIM1
2 transmembrane transport GO:0055085 9.89 TRPC6 TRPC4 TRPC3 TRPC1 CACNA1C
3 cellular calcium ion homeostasis GO:0006874 9.69 SYPL2 STIM2 STIM1
4 regulation of cytosolic calcium ion concentration GO:0051480 9.67 TRPC6 TRPC4 TRPC3 TRPC1
5 positive regulation of calcium ion transport GO:0051928 9.63 TRPC6 STIM2 ORAI1
6 calcium ion import GO:0070509 9.61 TRPC4 ORAI1 CACNA1C
7 positive regulation of adenylate cyclase activity GO:0045762 9.58 STIM1 ORAI1 CACNA1C
8 manganese ion transport GO:0006828 9.56 TRPC6 TRPC4 TRPC3 TRPC1
9 calcium ion transport GO:0006816 9.56 TRPC6 TRPC4 TRPC3 TRPC1 STIM2 STIM1
10 store-operated calcium entry GO:0002115 9.55 STIM2 STIM1 ORAI3 ORAI2 ORAI1
11 biomineral tissue development GO:0031214 9.54 FAM83H AMBN
12 regulation of calcium ion transport GO:0051924 9.52 STIM1 ORAI1
13 activation of store-operated calcium channel activity GO:0032237 9.48 STIM2 STIM1
14 calcium ion transmembrane transport GO:0070588 9.32 TRPC6 TRPC4 TRPC3 TRPC1 STIM2 STIM1

Molecular functions related to T Cell and Nk Cell Immunodeficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 ion channel activity GO:0005216 9.65 TRPC6 TRPC4 TRPC3 TRPC1 CACNA1C
2 inositol 1,4,5 trisphosphate binding GO:0070679 9.46 TRPC6 TRPC4 TRPC3 TRPC1
3 calcium channel activity GO:0005262 9.43 TRPC6 TRPC4 TRPC3 TRPC1 ORAI1 CACNA1C
4 calcium channel regulator activity GO:0005246 9.32 STIM2 STIM1
5 store-operated calcium channel activity GO:0015279 9.28 TRPC6 TRPC4 TRPC3 TRPC1 STIM2 STIM1

Sources for T Cell and Nk Cell Immunodeficiency

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-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....