IMD10
MCID: IMM065
MIFTS: 47

Immunodeficiency 10 (IMD10)

Categories: Blood diseases, Genetic diseases, Immune diseases, Rare diseases

Aliases & Classifications for Immunodeficiency 10

MalaCards integrated aliases for Immunodeficiency 10:

Name: Immunodeficiency 10 57 12 72 15
Immune Dysfunction with T-Cell Inactivation Due to Calcium Entry Defect 2 57 12 20 72 44 70
Combined Immunodeficiency Due to Stim1 Deficiency 12 58 29 6
Stim1 Deficiency 57 12 72
Imd10 57 12 72
Cid Due to Stim1 Deficiency 12 58
Immune Dysfunction, with T-Cell Inactivation Due to Calcium Entry Defect 2 13
Immunodeficiency, Type 10 39

Characteristics:

Orphanet epidemiological data:

58
combined immunodeficiency due to stim1 deficiency
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal;

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive

Miscellaneous:
variable severity
onset in childhood


HPO:

31
immunodeficiency 10:
Inheritance autosomal recessive inheritance
Onset and clinical course variable expressivity


Classifications:

Orphanet: 58  
Rare immunological diseases


External Ids:

Disease Ontology 12 DOID:0111970
OMIM® 57 612783
OMIM Phenotypic Series 57 PS300755
ICD10 via Orphanet 33 D81.8
Orphanet 58 ORPHA317430
MedGen 41 C2748557
UMLS 70 C2748557

Summaries for Immunodeficiency 10

UniProtKB/Swiss-Prot : 72 Immunodeficiency 10: An immune disorder characterized by recurrent infections, impaired activation and proliferative response of T-cells, decreased T-cell production of cytokines, lymphadenopathy, and normal lymphocytes counts and serum immunoglobulin levels. Additional features include thrombocytopenia, autoimmune hemolytic anemia, myopathy, partial iris hypoplasia, hepatosplenomegaly and defective enamel dentition.

MalaCards based summary : Immunodeficiency 10, also known as immune dysfunction with t-cell inactivation due to calcium entry defect 2, is related to combined immunodeficiency due to crac channel dysfunction and immunodeficiency, common variable, 10. An important gene associated with Immunodeficiency 10 is STIM1 (Stromal Interaction Molecule 1), and among its related pathways/superpathways are Cardiac conduction and Downstream signaling events of B Cell Receptor (BCR). Affiliated tissues include t cells and heart, and related phenotypes are kaposi's sarcoma and myopathy

Disease Ontology : 12 A T cell and NK cell immunodeficiency characterized by onset in childhood of recurrent infections due to defective T- and NK-cell function that has material basis in homozygous or compound heterozygous mutation in STIM1 on chromosome 11p15.4.

OMIM® : 57 Immunodeficiency-10 is an autosomal recessive primary immunodeficiency characterized by onset of recurrent infections in childhood due to defective T- and NK-cell function, although the severity is variable. Affected individuals may also have hypotonia, hypohidrosis, or dental enamel hypoplasia consistent with amelogenesis imperfecta (summary by Parry et al., 2016). (612783) (Updated 20-May-2021)

Related Diseases for Immunodeficiency 10

Diseases related to Immunodeficiency 10 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 37)
# Related Disease Score Top Affiliating Genes
1 combined immunodeficiency due to crac channel dysfunction 30.1 STIM1 ORAI1
2 immunodeficiency, common variable, 10 11.4
3 myopathy, tubular aggregate, 1 10.1 STIM2 STIM1 ORAI1
4 anemia, autoimmune hemolytic 10.1 STIM2 STIM1
5 mutilating palmoplantar keratoderma with periorificial keratotic plaques 10.0 TRPC4 TRPC3
6 brugada syndrome 4 10.0 STIM1 CACNA1C
7 mucolipidosis iv 10.0 TRPC3 TRPC1
8 alzheimer disease 10.0
9 alzheimer disease 3 10.0 ORAI1 CACNA1C
10 darier-white disease 9.9 TRPC4 TRPC1
11 kaposi sarcoma 9.9
12 human herpesvirus 8 9.9
13 sarcoma 9.9
14 t cell deficiency 9.9
15 ischemia 9.9
16 spindle cell sarcoma 9.9
17 neuroblastoma 9.9
18 progressive familial heart block 9.9 TRPC3 TRPC1 CACNA1C
19 malignant hyperthermia 9.9 SYPL2 STIM1 CACNA1C
20 immune deficiency disease 9.9
21 ectodermal dysplasia 9.8 STIM1 ORAI1 NFKB2
22 tooth ankylosis 9.8 ODAPH AMBN
23 hypercementosis 9.7 FAM83H AMBN
24 combined immunodeficiency 9.7
25 common variable immunodeficiency 9.7
26 dermatitis 9.7
27 lymphopenia 9.7
28 severe combined immunodeficiency 9.7
29 non-severe combined immunodeficiency 9.7
30 stormorken syndrome 9.6 SYPL2 STIM2 STIM1 ORAI3 ORAI2 ORAI1
31 immunodeficiency 9 9.5 ROGDI ORAI1 ODAPH FAM83H
32 trichodentoosseous syndrome 9.5 ODAPH FAM83H AMBN
33 teeth hard tissue disease 9.5 ODAPH FAM83H AMBN
34 junctional epidermolysis bullosa 9.4 ODAPH FAM83H AMBN
35 amelogenesis imperfecta 9.2 ROGDI ODAPH FAM83H AMBN
36 amelogenesis imperfecta, type iiia 9.2 STIM2 STIM1 ORAI3 ORAI2 FAM83H AMBN
37 t cell and nk cell immunodeficiency 7.4 TRPC4 TRPC3 TRPC1 SYPL2 STIM2 STIM1

Graphical network of the top 20 diseases related to Immunodeficiency 10:



Diseases related to Immunodeficiency 10

Symptoms & Phenotypes for Immunodeficiency 10

Human phenotypes related to Immunodeficiency 10:

31 (show all 14)
# Description HPO Frequency HPO Source Accession
1 kaposi's sarcoma 31 very rare (1%) HP:0100726
2 myopathy 31 HP:0003198
3 immunodeficiency 31 HP:0002721
4 hypohidrosis 31 HP:0000966
5 thrombocytopenia 31 HP:0001873
6 hypoplasia of the iris 31 HP:0007676
7 nail dysplasia 31 HP:0002164
8 recurrent infections 31 HP:0002719
9 lymphadenopathy 31 HP:0002716
10 recurrent fever 31 HP:0001954
11 amelogenesis imperfecta 31 HP:0000705
12 autoimmune hemolytic anemia 31 HP:0001890
13 recurrent bacterial infections 31 HP:0002718
14 hypotonia 31 HP:0001252

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Muscle Soft Tissue:
muscular hypotonia
myopathy, nonprogressive

Hematology:
thrombocytopenia
hemolytic anemia, autoimmune

Immunology:
lymphadenopathy
recurrent bacterial infections
impaired t cell activation
impaired t cell proliferative response
normal lymphocyte counts
more
Head And Neck Eyes:
iris hypoplasia, partial

Neoplasia:
kaposi sarcoma (1 patient)

Skin Nails Hair Skin:
hypohidrosis

Skin Nails Hair Nails:
nail dysplasia

Metabolic Features:
intermittent fever

Head And Neck Teeth:
defective enamel development
hypomineralized amelogenesis imperfecta

Clinical features from OMIM®:

612783 (Updated 20-May-2021)

MGI Mouse Phenotypes related to Immunodeficiency 10:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 9.43 AMBN CACNA1C FAM83H NFKB2 ORAI1 STIM1
2 growth/size/body region MP:0005378 9.32 AMBN CACNA1C FAM83H NFKB2 ORAI1 STIM1

Drugs & Therapeutics for Immunodeficiency 10

Genetic Tests for Immunodeficiency 10

Genetic tests related to Immunodeficiency 10:

# Genetic test Affiliating Genes
1 Combined Immunodeficiency Due to Stim1 Deficiency 29 STIM1

Anatomical Context for Immunodeficiency 10

MalaCards organs/tissues related to Immunodeficiency 10:

40
T Cells, Heart

Publications for Immunodeficiency 10

Articles related to Immunodeficiency 10:

(show all 26)
# Title Authors PMID Year
1
A homozygous STIM1 mutation impairs store-operated calcium entry and natural killer cell effector function without clinical immunodeficiency. 6 57
26560041 2016
2
STIM1 and SLC24A4 Are Critical for Enamel Maturation. 6 57
24621671 2014
3
Antiviral and regulatory T cell immunity in a patient with stromal interaction molecule 1 deficiency. 6 57
22190180 2012
4
STIM1 couples to ORAI1 via an intramolecular transition into an extended conformation. 6 57
21427704 2011
5
Whole-exome sequencing-based discovery of STIM1 deficiency in a child with fatal classic Kaposi sarcoma. 57 6
20876309 2010
6
STIM1 mutation associated with a syndrome of immunodeficiency and autoimmunity. 57 6
19420366 2009
7
Complex phenotypes associated with STIM1 mutations in both coiled coil and EF-hand domains. 6
28624464 2017
8
Tubular aggregate myopathy caused by a novel mutation in the cytoplasmic domain of STIM1. 6
27066587 2016
9
Use of Whole-Exome Sequencing for Diagnosis of Limb-Girdle Muscular Dystrophy: Outcomes and Lessons Learned. 6
26436962 2015
10
York platelet syndrome is a CRAC channelopathy due to gain-of-function mutations in STIM1. 6
25577287 2015
11
Clinical, histological and genetic characterisation of patients with tubular aggregate myopathy caused by mutations in STIM1. 6
25326555 2014
12
Gain-of-Function Mutation in STIM1 (P.R304W) Is Associated with Stormorken Syndrome. 6
25044882 2014
13
Childhood onset tubular aggregate myopathy associated with de novo STIM1 mutations. 6
24570283 2014
14
A dominant STIM1 mutation causes Stormorken syndrome. 6
24619930 2014
15
Activating mutations in STIM1 and ORAI1 cause overlapping syndromes of tubular myopathy and congenital miosis. 6
24591628 2014
16
Constitutive activation of the calcium sensor STIM1 causes tubular-aggregate myopathy. 6
23332920 2013
17
Molecular cloning of a novel human gene (D11S4896E) at chromosomal region 11p15.5. 57
8921403 1996
18
Newborn Screening for Severe Combined Immunodeficiency: 10-Year Experience at a Single Referral Center (2009-2018). 61
33409868 2021
19
A novel frame shift mutation in STIM1 gene causing primary immunodeficiency. 61
32494559 2020
20
Familial hypogammaglobulinemia with high RTE and naïve T lymphocytes. 61
31468084 2019
21
Psoriasiform dermatitis associated with common variable immunodeficiency 10 due to an Arg853* mutation in the NFKB2 gene. 61
29952021 2019
22
Clinical indications for intravenous immunoglobulin utilization in a tertiary medical center: a 9-year retrospective study. 61
29193136 2018
23
Evaluation of ColdZyme® Mouth Spray on prevention of upper respiratory tract infections in a boy with primary immunodeficiency: a case report. 61
27799071 2016
24
Using calculated globulin fraction to reduce diagnostic delay in primary and secondary hypogammaglobulinaemias: results of a demonstration project. 61
25024432 2015
25
Histological and immunohistochemical study of granuloma annulare and subcutaneous granuloma annulare in children. 61
17448194 2007
26
Polymerase chain reaction-based diagnosis of infection with Cryptosporidium in children with primary immunodeficiencies. 61
12690272 2003

Variations for Immunodeficiency 10

ClinVar genetic disease variations for Immunodeficiency 10:

6 (show top 50) (show all 235)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 STIM1 NM_003156.3(STIM1):c.970-1G>A SNV Pathogenic 30540 rs397515390 GRCh37: 11:4103413-4103413
GRCh38: 11:4082183-4082183
2 STIM1 NM_003156.3(STIM1):c.1285C>T (p.Arg429Cys) SNV Pathogenic 41464 rs397514671 GRCh37: 11:4104539-4104539
GRCh38: 11:4083309-4083309
3 STIM1 NM_003156.3(STIM1):c.221T>C (p.Leu74Pro) SNV Pathogenic 375471 rs1057519506 GRCh37: 11:3988863-3988863
GRCh38: 11:3967633-3967633
4 STIM1 NM_003156.3(STIM1):c.1276C>T (p.Arg426Cys) SNV Pathogenic 375470 rs1057519505 GRCh37: 11:4104530-4104530
GRCh38: 11:4083300-4083300
5 STIM1 NM_003156.3(STIM1):c.343A>T (p.Ile115Phe) SNV Pathogenic 143191 rs527236030 GRCh37: 11:4045175-4045175
GRCh38: 11:4023945-4023945
6 STIM1 NM_003156.3(STIM1):c.1452del (p.Ile484fs) Deletion Pathogenic 572186 rs1565171115 GRCh37: 11:4104705-4104705
GRCh38: 11:4083475-4083475
7 STIM1 NM_003156.3(STIM1):c.700_707del (p.Asn234fs) Deletion Pathogenic 643831 rs1590688717 GRCh37: 11:4091342-4091349
GRCh38: 11:4070112-4070119
8 STIM1 and overlap with 1 gene(s) NC_000011.10:g.(?_3856251)_(4091818_?)del Deletion Pathogenic 665042 GRCh37: 11:3877481-4113048
GRCh38: 11:3856251-4091818
9 STIM1 NM_003156.3(STIM1):c.910C>T (p.Arg304Trp) SNV Pathogenic 132887 rs483352867 GRCh37: 11:4095850-4095850
GRCh38: 11:4074620-4074620
10 STIM1 NM_003156.3(STIM1):c.326A>G (p.His109Arg) SNV Pathogenic 41483 rs397514677 GRCh37: 11:4045158-4045158
GRCh38: 11:4023928-4023928
11 STIM1 NC_000011.10:g.(?_4059271)_(4059406_?)del Deletion Pathogenic 832877 GRCh37: 11:4080501-4080636
GRCh38:
12 STIM1 NM_003156.3(STIM1):c.910C>T (p.Arg304Trp) SNV Pathogenic 132887 rs483352867 GRCh37: 11:4095850-4095850
GRCh38: 11:4074620-4074620
13 STIM1 NM_003156.3(STIM1):c.381dup (p.Glu128fs) Duplication Pathogenic 4711 rs397515357 GRCh37: 11:4045212-4045213
GRCh38: 11:4023982-4023983
14 STIM1 NM_003156.3(STIM1):c.239A>C (p.Asn80Thr) SNV Likely pathogenic 189363 rs748277951 GRCh37: 11:3988881-3988881
GRCh38: 11:3967651-3967651
15 STIM1 NM_003156.3(STIM1):c.767A>G (p.Gln256Arg) SNV Uncertain significance 806603 rs201576757 GRCh37: 11:4091409-4091409
GRCh38: 11:4070179-4070179
16 STIM1 NM_001277962.2(STIM1):c.*341C>T SNV Uncertain significance 855253 GRCh37: 11:4112897-4112897
GRCh38: 11:4091667-4091667
17 STIM1 NM_003156.3(STIM1):c.239A>G (p.Asn80Ser) SNV Uncertain significance 849947 GRCh37: 11:3988881-3988881
GRCh38: 11:3967651-3967651
18 STIM1 NM_003156.3(STIM1):c.1510A>G (p.Thr504Ala) SNV Uncertain significance 374632 rs200528072 GRCh37: 11:4107742-4107742
GRCh38: 11:4086512-4086512
19 STIM1 NM_003156.3(STIM1):c.304A>G (p.Thr102Ala) SNV Uncertain significance 848609 GRCh37: 11:4045136-4045136
GRCh38: 11:4023906-4023906
20 STIM1 NM_003156.3(STIM1):c.1582A>G (p.Ser528Gly) SNV Uncertain significance 842745 GRCh37: 11:4112552-4112552
GRCh38: 11:4091322-4091322
21 STIM1 NM_003156.3(STIM1):c.623A>G (p.His208Arg) SNV Uncertain significance 836604 GRCh37: 11:4091265-4091265
GRCh38: 11:4070035-4070035
22 STIM1 NM_003156.3(STIM1):c.658A>G (p.Ile220Val) SNV Uncertain significance 834741 GRCh37: 11:4091300-4091300
GRCh38: 11:4070070-4070070
23 STIM1 NM_001277962.2(STIM1):c.*82C>G SNV Uncertain significance 658650 rs201543900 GRCh37: 11:4112638-4112638
GRCh38: 11:4091408-4091408
24 STIM1 NM_003156.3(STIM1):c.182A>G (p.Glu61Gly) SNV Uncertain significance 663469 rs202160755 GRCh37: 11:3988824-3988824
GRCh38: 11:3967594-3967594
25 STIM1 NC_000011.10:g.(?_3856251)_(3856429_?)dup Duplication Uncertain significance 833057 GRCh37: 11:3877481-3877659
GRCh38:
26 STIM1 NM_003156.3(STIM1):c.1355C>G (p.Ala452Gly) SNV Uncertain significance 835703 GRCh37: 11:4104609-4104609
GRCh38: 11:4083379-4083379
27 STIM1 NM_003156.3(STIM1):c.792-3C>A SNV Uncertain significance 836980 GRCh37: 11:4095729-4095729
GRCh38: 11:4074499-4074499
28 STIM1 NM_003156.3(STIM1):c.1252G>A (p.Glu418Lys) SNV Uncertain significance 837525 GRCh37: 11:4104506-4104506
GRCh38: 11:4083276-4083276
29 STIM1 NM_001277962.2(STIM1):c.*315G>A SNV Uncertain significance 838190 GRCh37: 11:4112871-4112871
GRCh38: 11:4091641-4091641
30 STIM1 NM_001277962.2(STIM1):c.*8C>T SNV Uncertain significance 847477 GRCh37: 11:4112564-4112564
GRCh38: 11:4091334-4091334
31 STIM1 NM_003156.3(STIM1):c.872A>G (p.Asn291Ser) SNV Uncertain significance 847753 GRCh37: 11:4095812-4095812
GRCh38: 11:4074582-4074582
32 STIM1 NM_003156.3(STIM1):c.1137+3G>A SNV Uncertain significance 849348 GRCh37: 11:4103584-4103584
GRCh38: 11:4082354-4082354
33 STIM1 NM_003156.3(STIM1):c.1393C>T (p.Arg465Cys) SNV Uncertain significance 849806 GRCh37: 11:4104647-4104647
GRCh38: 11:4083417-4083417
34 STIM1 NM_003156.3(STIM1):c.1505G>A (p.Arg502His) SNV Uncertain significance 852471 GRCh37: 11:4107737-4107737
GRCh38: 11:4086507-4086507
35 STIM1 NM_003156.3(STIM1):c.1285C>T (p.Arg429Cys) SNV Uncertain significance 41464 rs397514671 GRCh37: 11:4104539-4104539
GRCh38: 11:4083309-4083309
36 STIM1 NM_003156.3(STIM1):c.1501C>A (p.Gln501Lys) SNV Uncertain significance 857902 GRCh37: 11:4107733-4107733
GRCh38: 11:4086503-4086503
37 STIM1 NM_003156.3(STIM1):c.1447G>A (p.Glu483Lys) SNV Uncertain significance 858407 GRCh37: 11:4104701-4104701
GRCh38: 11:4083471-4083471
38 STIM1 NM_001277962.2(STIM1):c.*21A>G SNV Uncertain significance 859464 GRCh37: 11:4112577-4112577
GRCh38: 11:4091347-4091347
39 STIM1 NM_003156.3(STIM1):c.1459C>T (p.Pro487Ser) SNV Uncertain significance 860737 GRCh37: 11:4104713-4104713
GRCh38: 11:4083483-4083483
40 STIM1 NM_001277962.2(STIM1):c.*194C>T SNV Uncertain significance 860940 GRCh37: 11:4112750-4112750
GRCh38: 11:4091520-4091520
41 STIM1 NM_003156.3(STIM1):c.1378T>G (p.Trp460Gly) SNV Uncertain significance 863348 GRCh37: 11:4104632-4104632
GRCh38: 11:4083402-4083402
42 STIM1 NM_001382567.1(STIM1):c.1656G>A (p.Ser552=) SNV Uncertain significance 1064085 GRCh37: 11:4112533-4112533
GRCh38: 11:4091303-4091303
43 STIM1 NM_001382567.1(STIM1):c.2104C>T (p.Arg702Trp) SNV Uncertain significance 1057184 GRCh37: 11:4112981-4112981
GRCh38: 11:4091751-4091751
44 STIM1 NM_003156.3(STIM1):c.488C>A (p.Ala163Asp) SNV Uncertain significance 461735 rs199893056 GRCh37: 11:4076858-4076858
GRCh38: 11:4055628-4055628
45 STIM1 NM_001277962.2(STIM1):c.*222C>T SNV Uncertain significance 864286 GRCh37: 11:4112778-4112778
GRCh38: 11:4091548-4091548
46 STIM1 NM_003156.3(STIM1):c.473A>C (p.Gln158Pro) SNV Uncertain significance 530881 rs899854132 GRCh37: 11:4076843-4076843
GRCh38: 11:4055613-4055613
47 STIM1 NM_001277962.2(STIM1):c.*38C>T SNV Uncertain significance 530880 rs370846246 GRCh37: 11:4112594-4112594
GRCh38: 11:4091364-4091364
48 STIM1 NM_003156.3(STIM1):c.1382T>C (p.Met461Thr) SNV Uncertain significance 530879 rs1444907403 GRCh37: 11:4104636-4104636
GRCh38: 11:4083406-4083406
49 STIM1 NM_003156.3(STIM1):c.1291C>A (p.Gln431Lys) SNV Uncertain significance 530878 rs199666087 GRCh37: 11:4104545-4104545
GRCh38: 11:4083315-4083315
50 STIM1 NM_001277962.2(STIM1):c.*374G>A SNV Uncertain significance 530877 rs201466902 GRCh37: 11:4112930-4112930
GRCh38: 11:4091700-4091700

UniProtKB/Swiss-Prot genetic disease variations for Immunodeficiency 10:

72
# Symbol AA change Variation ID SNP ID
1 STIM1 p.Arg429Cys VAR_069896 rs397514671

Expression for Immunodeficiency 10

Search GEO for disease gene expression data for Immunodeficiency 10.

Pathways for Immunodeficiency 10

Pathways related to Immunodeficiency 10 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.49 TRPC1 STIM1 ORAI2 ORAI1 CACNA1C
2
Show member pathways
12.4 TRPC1 STIM1 ORAI2 ORAI1
3
Show member pathways
12.16 ORAI3 ORAI2 ORAI1 NFKB2
4 11.91 TRPC4 TRPC3 TRPC1
5
Show member pathways
11.83 TRPC3 STIM1 ORAI2 ORAI1
6 11.48 STIM2 STIM1 ORAI3 ORAI2 ORAI1 CACNA1C
7
Show member pathways
11.46 TRPC4 TRPC3 TRPC1
8 11.3 TRPC4 TRPC1 CACNA1C
9
Show member pathways
11.28 TRPC1 STIM1 ORAI2 ORAI1
10 10.73 TRPC4 TRPC3 TRPC1

GO Terms for Immunodeficiency 10

Cellular components related to Immunodeficiency 10 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 integral component of membrane GO:0016021 10.02 TRPC4 TRPC3 TRPC1 SYPL2 STIM2 STIM1
2 integral component of plasma membrane GO:0005887 9.43 TRPC4 TRPC3 TRPC1 STIM1 ORAI1 CACNA1C
3 plasma membrane raft GO:0044853 9.26 STIM1 ORAI1
4 calcium channel complex GO:0034704 9.16 TRPC4 ORAI1
5 cation channel complex GO:0034703 8.8 TRPC4 TRPC3 TRPC1

Biological processes related to Immunodeficiency 10 according to GeneCards Suite gene sharing:

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 ion transport GO:0006811 9.87 TRPC4 TRPC3 TRPC1 STIM2 STIM1 ORAI1
2 calcium ion transport GO:0006816 9.7 TRPC4 TRPC3 TRPC1 STIM2 STIM1 ORAI1
3 cellular calcium ion homeostasis GO:0006874 9.65 SYPL2 STIM2 STIM1
4 regulation of cytosolic calcium ion concentration GO:0051480 9.61 TRPC4 TRPC3 TRPC1
5 calcium ion import GO:0070509 9.58 TRPC4 ORAI1 CACNA1C
6 manganese ion transport GO:0006828 9.54 TRPC4 TRPC3 TRPC1
7 biomineral tissue development GO:0031214 9.52 FAM83H AMBN
8 regulation of calcium ion transport GO:0051924 9.51 STIM1 ORAI1
9 positive regulation of calcium ion transport GO:0051928 9.49 STIM2 ORAI1
10 activation of store-operated calcium channel activity GO:0032237 9.46 STIM2 STIM1
11 positive regulation of adenylate cyclase activity GO:0045762 9.43 STIM1 ORAI1 CACNA1C
12 store-operated calcium entry GO:0002115 9.35 STIM2 STIM1 ORAI3 ORAI2 ORAI1
13 calcium ion transmembrane transport GO:0070588 9.28 TRPC4 TRPC3 TRPC1 STIM2 STIM1 ORAI3

Molecular functions related to Immunodeficiency 10 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 ion channel activity GO:0005216 9.56 TRPC4 TRPC3 TRPC1 CACNA1C
2 calcium channel activity GO:0005262 9.35 TRPC4 TRPC3 TRPC1 ORAI1 CACNA1C
3 inositol 1,4,5 trisphosphate binding GO:0070679 9.33 TRPC4 TRPC3 TRPC1
4 calcium channel regulator activity GO:0005246 9.32 STIM2 STIM1
5 store-operated calcium channel activity GO:0015279 9.23 TRPC4 TRPC3 TRPC1 STIM2 STIM1 ORAI3

Sources for Immunodeficiency 10

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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