SCIDA
MCID: SVR010
MIFTS: 48

Severe Combined Immunodeficiency with Sensitivity to Ionizing Radiation (SCIDA)

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

Aliases & Classifications for Severe Combined Immunodeficiency with Sensitivity to Ionizing...

MalaCards integrated aliases for Severe Combined Immunodeficiency with Sensitivity to Ionizing Radiation:

Name: Severe Combined Immunodeficiency with Sensitivity to Ionizing Radiation 57 12 53 75 29 13 6 15 40 73
Severe Combined Immunodeficiency, Athabascan Type 57 12 59
Scid, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive, with Sensitivity to Ionizing Radiation 57 53
Severe Combined Immunodeficiency Due to Artemis Deficiency 12 59
Severe Combined Immunodeficiency Due to Dclre1c Deficiency 12 59
Severe Combined Immunodeficiency, Athabaskan Type 12 59
Scid Due to Artemis Deficiency 12 59
Scid Due to Dclre1c Deficiency 12 59
Scid, Athabascan Type 12 59
Scid, Athabaskan Type 12 59
Rs-Scid 57 53
Severe Combined Immunodeficiency Autosomal Recessive T-Cell-Negative/b-Cell-Negative/nk-Cell-Positive with Sensitivity to Ionizing Radiation 75
Severe Combined Immunodeficiency, Athabascan-Type 6
Severe Combined Immunodeficiency, Athabaskan-Type 73
Severe Combined Immunodeficiency Athabaskan Type 75
Artemis Deficiency 12
Athabascan Scid 75
Rsscid 75
Scida 75

Characteristics:

Orphanet epidemiological data:

59
severe combined immunodeficiency due to dclre1c deficiency
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
variable phenotype
onset in early childhood
some patients may present with isolated antibody deficiency


HPO:

32
severe combined immunodeficiency with sensitivity to ionizing radiation:
Onset and clinical course phenotypic variability
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 59  
Rare immunological diseases


External Ids:

OMIM 57 602450
Disease Ontology 12 DOID:0090012
ICD10 33 D81.1
Orphanet 59 ORPHA275
ICD10 via Orphanet 34 D81.1
UMLS via Orphanet 74 C1865372
MeSH 44 D016511

Summaries for Severe Combined Immunodeficiency with Sensitivity to Ionizing...

UniProtKB/Swiss-Prot : 75 Severe combined immunodeficiency Athabaskan type: A variety of SCID with sensitivity to ionizing radiation. A founder mutation has been detected in Athabascan-speaking native Americans, being inherited as an autosomal recessive trait. Affected individuals exhibit clinical symptoms and defects in DNA repair comparable to those seen in RS-SCID. Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-positive with sensitivity to ionizing radiation: A form of severe combined immunodeficiency, a genetically and clinically heterogeneous group of rare congenital disorders characterized by impairment of both humoral and cell-mediated immunity, leukopenia, and low or absent antibody levels. Patients present in infancy with recurrent, persistent infections by opportunistic organisms. The common characteristic of all types of SCID is absence of T-cell-mediated cellular immunity due to a defect in T-cell development. Individuals affected by RS-SCID show defects in the DNA repair machinery necessary for coding joint formation and the completion of V(D)J recombination. A subset of cells from such patients show increased radiosensitivity.

MalaCards based summary : Severe Combined Immunodeficiency with Sensitivity to Ionizing Radiation, also known as severe combined immunodeficiency, athabascan type, is related to combined t cell and b cell immunodeficiency and lig4 syndrome, and has symptoms including diarrhea An important gene associated with Severe Combined Immunodeficiency with Sensitivity to Ionizing Radiation is DCLRE1C (DNA Cross-Link Repair 1C), and among its related pathways/superpathways are DNA Double-Strand Break Repair and NF-kappaB Signaling. Affiliated tissues include b cells, t cells and nk cells, and related phenotypes are failure to thrive and recurrent upper respiratory tract infections

Disease Ontology : 12 A severe combined immunodeficiency characterized by being T cell-negative, B cell-negative and natural killer cell-positive with sensitivity to ionizing radiation and that has material basis in mutation in the DCLRE1C gene on chromosome 10p13.

Description from OMIM: 602450

Related Diseases for Severe Combined Immunodeficiency with Sensitivity to Ionizing...

Graphical network of the top 20 diseases related to Severe Combined Immunodeficiency with Sensitivity to Ionizing Radiation:



Diseases related to Severe Combined Immunodeficiency with Sensitivity to Ionizing Radiation

Symptoms & Phenotypes for Severe Combined Immunodeficiency with Sensitivity to Ionizing...

Symptoms via clinical synopsis from OMIM:

57
Growth Other:
failure to thrive

Abdomen Gastrointestinal:
diarrhea

Respiratory Lung:
pneumonia

Immunology:
hypogammaglobulinemia
decreased numbers of b cells
absent thymus
small lymph nodes
reduced/absent cd3+ t cells
more
Genitourinary External Genitalia Male:
genital ulcers

Respiratory Airways:
recurrent upper respiratory tract infections

Head And Neck Ears:
otitis media

Respiratory Nasopharynx:
absent tonsils

Head And Neck Mouth:
oral ulcers

Genitourinary External Genitalia Female:
genital ulcers


Clinical features from OMIM:

602450

Human phenotypes related to Severe Combined Immunodeficiency with Sensitivity to Ionizing Radiation:

32 (show all 12)
# Description HPO Frequency HPO Source Accession
1 failure to thrive 32 HP:0001508
2 recurrent upper respiratory tract infections 32 HP:0002788
3 diarrhea 32 HP:0002014
4 otitis media 32 HP:0000388
5 pneumonia 32 HP:0002090
6 oral ulcer 32 HP:0000155
7 severe combined immunodeficiency 32 HP:0004430
8 panhypogammaglobulinemia 32 HP:0003139
9 aplasia of the thymus 32 HP:0005359
10 absent tonsils 32 HP:0030813
11 genital ulcers 32 HP:0003249
12 lymph node hypoplasia 32 HP:0002732

UMLS symptoms related to Severe Combined Immunodeficiency with Sensitivity to Ionizing Radiation:


diarrhea

GenomeRNAi Phenotypes related to Severe Combined Immunodeficiency with Sensitivity to Ionizing Radiation according to GeneCards Suite gene sharing:

26 (show all 17)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-116 10.19 LIG4
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-119 10.19 EPB41 TP53BP1
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-139 10.19 LIG4
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-14 10.19 EPB41
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-145 10.19 DCLRE1C
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-204 10.19 DCLRE1C
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-213 10.19 TP53BP1
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-216 10.19 DCLRE1C EPB41 LIG4 TP53BP1
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-26 10.19 DCLRE1C
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-28 10.19 EPB41
11 Decreased shRNA abundance (Z-score < -2) GR00366-A-34 10.19 EPB41
12 Decreased shRNA abundance (Z-score < -2) GR00366-A-53 10.19 LIG4
13 Decreased shRNA abundance (Z-score < -2) GR00366-A-87 10.19 DCLRE1C
14 Increased viability with MLN4924 (a NAE inhibitor) GR00250-A-3 9.7 ABL1 DCLRE1C LIG4 NHEJ1 PRKDC TDP1
15 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-1 9.64 LIG4 PRKDC STAT1 TDP1 TP53BP1
16 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-2 9.64 LIG4 PRKDC STAT1 TDP1 TP53BP1 ABL1
17 Increased viability with tamoxifen GR00120-A 8.96 ABL1 PRKDC

MGI Mouse Phenotypes related to Severe Combined Immunodeficiency with Sensitivity to Ionizing Radiation:

46 (show all 11)
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.24 ABL1 DCLRE1C EFNA5 LIG4 NHEJ1 PRKDC
2 homeostasis/metabolism MP:0005376 10.15 ABL1 EFNA5 EPB41 LIG4 NHEJ1 PRKDC
3 hematopoietic system MP:0005397 10.14 ABL1 DCLRE1C EPB41 LIG4 NHEJ1 PRKDC
4 endocrine/exocrine gland MP:0005379 10.11 ABL1 DCLRE1C EFNA5 LIG4 NHEJ1 PRKDC
5 growth/size/body region MP:0005378 10.09 ABL1 DCLRE1C EFNA5 LIG4 NHEJ1 PRKDC
6 immune system MP:0005387 10.06 ABL1 DCLRE1C EPB41 LIG4 NHEJ1 PRKDC
7 digestive/alimentary MP:0005381 9.95 ABL1 EFNA5 LIG4 PRKDC RAG1 STAT1
8 mortality/aging MP:0010768 9.85 ABL1 EFNA5 EPB41 LIG4 NHEJ1 PRKDC
9 liver/biliary system MP:0005370 9.73 ABL1 EPB41 LIG4 PRKDC RAG1 STAT1
10 neoplasm MP:0002006 9.43 LIG4 NHEJ1 PRKDC RAG1 STAT1 TP53BP1
11 nervous system MP:0003631 9.23 ABL1 EFNA5 LIG4 NHEJ1 PRKDC RAG1

Drugs & Therapeutics for Severe Combined Immunodeficiency with Sensitivity to Ionizing...

Search Clinical Trials , NIH Clinical Center for Severe Combined Immunodeficiency with Sensitivity to Ionizing Radiation

Genetic Tests for Severe Combined Immunodeficiency with Sensitivity to Ionizing...

Genetic tests related to Severe Combined Immunodeficiency with Sensitivity to Ionizing Radiation:

# Genetic test Affiliating Genes
1 Severe Combined Immunodeficiency with Sensitivity to Ionizing Radiation 29 DCLRE1C

Anatomical Context for Severe Combined Immunodeficiency with Sensitivity to Ionizing...

MalaCards organs/tissues related to Severe Combined Immunodeficiency with Sensitivity to Ionizing Radiation:

41
B Cells, T Cells, Nk Cells, Lymph Node, Thymus, Tonsil

Publications for Severe Combined Immunodeficiency with Sensitivity to Ionizing...

Articles related to Severe Combined Immunodeficiency with Sensitivity to Ionizing Radiation:

# Title Authors Year
1
Type I IFN-related NETosis in ataxia telangiectasia and Artemis deficiency. ( 29155101 )
2017
2
Epidermodysplasia verruciformis as a manifestation of ARTEMIS deficiency in a young adult. ( 27568080 )
2016
3
Role of transgene regulation in ex vivo lentiviral correction of artemis deficiency. ( 25738323 )
2015
4
Functional analysis of naturally occurring DCLRE1C mutations and correlation with the clinical phenotype of ARTEMIS deficiency. ( 25917813 )
2015
5
Variable correction of Artemis deficiency by I-Sce1-meganuclease-assisted homologous recombination in murine hematopoietic stem cells. ( 24622732 )
2014
6
Diagnosis of 22q11.2 deletion syndrome and artemis deficiency in two children with T-B-NK+ immunodeficiency. ( 22864628 )
2012
7
Chronic inflammatory bowel disease as key manifestation of atypical ARTEMIS deficiency. ( 19967552 )
2010
8
Artemis deficiency confers a DNA double-strand break repair defect and Artemis phosphorylation status is altered by DNA damage and cell cycle progression. ( 15811628 )
2005

Variations for Severe Combined Immunodeficiency with Sensitivity to Ionizing...

UniProtKB/Swiss-Prot genetic disease variations for Severe Combined Immunodeficiency with Sensitivity to Ionizing Radiation:

75
# Symbol AA change Variation ID SNP ID
1 DCLRE1C p.Gly118Val VAR_023078
2 DCLRE1C p.Gly135Glu VAR_023079

ClinVar genetic disease variations for Severe Combined Immunodeficiency with Sensitivity to Ionizing Radiation:

6 (show top 50) (show all 217)
# Gene Variation Type Significance SNP ID Assembly Location
1 DCLRE1C NM_001033855.2(DCLRE1C): c.241C> T (p.Arg81Ter) single nucleotide variant Pathogenic rs121908156 GRCh37 Chromosome 10, 14987109: 14987109
2 DCLRE1C NM_001033855.2(DCLRE1C): c.241C> T (p.Arg81Ter) single nucleotide variant Pathogenic rs121908156 GRCh38 Chromosome 10, 14945110: 14945110
3 DCLRE1C DCLRE1C, EX1-4DEL deletion Pathogenic
4 DCLRE1C DCLRE1C, EX5-6DEL deletion Pathogenic
5 DCLRE1C DCLRE1C, IVS11DS, G-C, +1 single nucleotide variant Pathogenic
6 DCLRE1C DCLRE1C, IVS10DS, G-A, +1 single nucleotide variant Pathogenic
7 DCLRE1C DCLRE1C, IVS5DS, G-T, +1 single nucleotide variant Pathogenic
8 DCLRE1C NM_022487.3(DCLRE1C): c.435delG (p.Ala146Glnfs) deletion Pathogenic rs786205074 GRCh37 Chromosome 10, 14974853: 14974853
9 DCLRE1C NM_022487.3(DCLRE1C): c.435delG (p.Ala146Glnfs) deletion Pathogenic rs786205074 GRCh38 Chromosome 10, 14932854: 14932854
10 DCLRE1C DCLRE1C, EX5-8DEL deletion Pathogenic
11 DCLRE1C NM_001033855.2(DCLRE1C): c.597C> A (p.Tyr199Ter) single nucleotide variant Pathogenic rs121908157 GRCh37 Chromosome 10, 14976460: 14976460
12 DCLRE1C NM_001033855.2(DCLRE1C): c.597C> A (p.Tyr199Ter) single nucleotide variant Pathogenic rs121908157 GRCh38 Chromosome 10, 14934461: 14934461
13 DCLRE1C NM_001033855.2(DCLRE1C): c.1346_1352delTTGTAGA (p.Asp451Lysfs) deletion Pathogenic rs786200884 GRCh37 Chromosome 10, 14951134: 14951140
14 DCLRE1C NM_001033855.2(DCLRE1C): c.1346_1352delTTGTAGA (p.Asp451Lysfs) deletion Pathogenic rs786200884 GRCh38 Chromosome 10, 14909135: 14909141
15 LIG4 NM_002312.3(LIG4): c.8C> T (p.Ala3Val) single nucleotide variant protective rs1805389 GRCh37 Chromosome 13, 108863609: 108863609
16 LIG4 NM_002312.3(LIG4): c.8C> T (p.Ala3Val) single nucleotide variant protective rs1805389 GRCh38 Chromosome 13, 108211261: 108211261
17 LIG4 NM_002312.3(LIG4): c.26C> T (p.Thr9Ile) single nucleotide variant Benign rs1805388 GRCh37 Chromosome 13, 108863591: 108863591
18 LIG4 NM_002312.3(LIG4): c.26C> T (p.Thr9Ile) single nucleotide variant Benign rs1805388 GRCh38 Chromosome 13, 108211243: 108211243
19 DCLRE1C NM_001033857.2(DCLRE1C): c.97G> A (p.Gly33Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs41297018 GRCh37 Chromosome 10, 14977469: 14977469
20 DCLRE1C NM_001033857.2(DCLRE1C): c.97G> A (p.Gly33Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs41297018 GRCh38 Chromosome 10, 14935470: 14935470
21 LIG4 NM_002312.3(LIG4): c.1704T> C (p.Asp568=) single nucleotide variant Benign/Likely benign rs1805386 GRCh37 Chromosome 13, 108861913: 108861913
22 LIG4 NM_002312.3(LIG4): c.1704T> C (p.Asp568=) single nucleotide variant Benign/Likely benign rs1805386 GRCh38 Chromosome 13, 108209565: 108209565
23 DCLRE1C NM_001033855.2(DCLRE1C): c.959C> G (p.Ser320Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs41298896 GRCh37 Chromosome 10, 14968855: 14968855
24 DCLRE1C NM_001033855.2(DCLRE1C): c.959C> G (p.Ser320Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs41298896 GRCh38 Chromosome 10, 14926856: 14926856
25 DCLRE1C NM_001033855.2(DCLRE1C): c.1503T> C (p.Asp501=) single nucleotide variant Benign rs41300670 GRCh37 Chromosome 10, 14950983: 14950983
26 DCLRE1C NM_001033855.2(DCLRE1C): c.1503T> C (p.Asp501=) single nucleotide variant Benign rs41300670 GRCh38 Chromosome 10, 14908984: 14908984
27 DCLRE1C NM_001033855.2(DCLRE1C): c.1893C> T (p.Pro631=) single nucleotide variant Benign rs41300676 GRCh37 Chromosome 10, 14950593: 14950593
28 DCLRE1C NM_001033855.2(DCLRE1C): c.1893C> T (p.Pro631=) single nucleotide variant Benign rs41300676 GRCh38 Chromosome 10, 14908594: 14908594
29 DCLRE1C NM_001033855.2(DCLRE1C): c.2001A> G (p.Leu667=) single nucleotide variant Conflicting interpretations of pathogenicity rs61749163 GRCh37 Chromosome 10, 14950485: 14950485
30 DCLRE1C NM_001033855.2(DCLRE1C): c.2001A> G (p.Leu667=) single nucleotide variant Conflicting interpretations of pathogenicity rs61749163 GRCh38 Chromosome 10, 14908486: 14908486
31 LIG4 NM_002312.3(LIG4): c.513T> C (p.Leu171=) single nucleotide variant Conflicting interpretations of pathogenicity rs3093764 GRCh37 Chromosome 13, 108863104: 108863104
32 LIG4 NM_002312.3(LIG4): c.513T> C (p.Leu171=) single nucleotide variant Conflicting interpretations of pathogenicity rs3093764 GRCh38 Chromosome 13, 108210756: 108210756
33 DCLRE1C NM_001033855.2(DCLRE1C): c.1669_1670insA (p.Thr557Asnfs) insertion Pathogenic rs886037924 GRCh38 Chromosome 10, 14908818: 14908818
34 DCLRE1C NM_001033855.2(DCLRE1C): c.1669_1670insA (p.Thr557Asnfs) insertion Pathogenic rs886037924 GRCh37 Chromosome 10, 14950817: 14950817
35 DCLRE1C NM_001033855.2(DCLRE1C): c.194C> T (p.Thr65Ile) single nucleotide variant Pathogenic rs886037925 GRCh37 Chromosome 10, 14987156: 14987156
36 DCLRE1C NM_001033855.2(DCLRE1C): c.194C> T (p.Thr65Ile) single nucleotide variant Pathogenic rs886037925 GRCh38 Chromosome 10, 14945157: 14945157
37 DCLRE1C NM_001033855.2(DCLRE1C): c.1284A> C (p.Lys428Asn) single nucleotide variant Likely benign rs113870881 GRCh37 Chromosome 10, 14951202: 14951202
38 DCLRE1C NM_001033855.2(DCLRE1C): c.1284A> C (p.Lys428Asn) single nucleotide variant Likely benign rs113870881 GRCh38 Chromosome 10, 14909203: 14909203
39 LIG4 NM_002312.3(LIG4): c.*1035G> A single nucleotide variant Likely benign rs10131 GRCh38 Chromosome 13, 108207498: 108207498
40 LIG4 NM_002312.3(LIG4): c.*1035G> A single nucleotide variant Likely benign rs10131 GRCh37 Chromosome 13, 108859846: 108859846
41 LIG4 NM_002312.3(LIG4): c.*855_*856insTTTT insertion Likely benign rs146506306 GRCh38 Chromosome 13, 108207677: 108207678
42 LIG4 NM_002312.3(LIG4): c.*855_*856insTTTT insertion Likely benign rs146506306 GRCh37 Chromosome 13, 108860025: 108860026
43 LIG4 NM_002312.3(LIG4): c.*599_*602delCTTA deletion Likely benign rs3093770 GRCh38 Chromosome 13, 108207931: 108207934
44 LIG4 NM_002312.3(LIG4): c.*599_*602delCTTA deletion Likely benign rs3093770 GRCh37 Chromosome 13, 108860279: 108860282
45 LIG4 NM_002312.3(LIG4): c.*562_*563insAAT insertion Likely benign rs112171260 GRCh38 Chromosome 13, 108207970: 108207971
46 LIG4 NM_002312.3(LIG4): c.*562_*563insAAT insertion Likely benign rs112171260 GRCh37 Chromosome 13, 108860318: 108860319
47 LIG4 NM_002312.3(LIG4): c.*486A> G single nucleotide variant Uncertain significance rs543340651 GRCh38 Chromosome 13, 108208047: 108208047
48 LIG4 NM_002312.3(LIG4): c.*486A> G single nucleotide variant Uncertain significance rs543340651 GRCh37 Chromosome 13, 108860395: 108860395
49 LIG4 NM_002312.3(LIG4): c.*352A> C single nucleotide variant Uncertain significance rs886049944 GRCh38 Chromosome 13, 108208181: 108208181
50 LIG4 NM_002312.3(LIG4): c.*352A> C single nucleotide variant Uncertain significance rs886049944 GRCh37 Chromosome 13, 108860529: 108860529

Expression for Severe Combined Immunodeficiency with Sensitivity to Ionizing...

Search GEO for disease gene expression data for Severe Combined Immunodeficiency with Sensitivity to Ionizing Radiation.

Pathways for Severe Combined Immunodeficiency with Sensitivity to Ionizing...

GO Terms for Severe Combined Immunodeficiency with Sensitivity to Ionizing...

Cellular components related to Severe Combined Immunodeficiency with Sensitivity to Ionizing Radiation according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nucleoplasm GO:0005654 9.97 ABL1 DCLRE1C LIG4 NHEJ1 PRKDC RAG1
2 DNA-dependent protein kinase-DNA ligase 4 complex GO:0005958 9.26 LIG4 PRKDC
3 nuclear chromosome, telomeric region GO:0000784 9.26 DCLRE1C LIG4 PRKDC TP53BP1
4 DNA ligase IV complex GO:0032807 9.16 LIG4 NHEJ1
5 nonhomologous end joining complex GO:0070419 8.92 DCLRE1C LIG4 NHEJ1 PRKDC
6 nucleus GO:0005634 10.11 ABL1 DCLRE1C EPB41 LIG4 NHEJ1 PRKDC

Biological processes related to Severe Combined Immunodeficiency with Sensitivity to Ionizing Radiation according to GeneCards Suite gene sharing:

(show all 26)
# Name GO ID Score Top Affiliating Genes
1 cellular response to DNA damage stimulus GO:0006974 9.87 ABL1 DCLRE1C LIG4 NHEJ1 PRKDC TDP1
2 DNA repair GO:0006281 9.8 ABL1 DCLRE1C LIG4 NHEJ1 PRKDC TDP1
3 nucleic acid phosphodiester bond hydrolysis GO:0090305 9.74 DCLRE1C RAG1 TDP1
4 B cell differentiation GO:0030183 9.71 DCLRE1C NHEJ1 RAG1
5 DNA recombination GO:0006310 9.71 DCLRE1C LIG4 PRKDC RAG1
6 response to ionizing radiation GO:0010212 9.67 DCLRE1C LIG4 NHEJ1 PRKDC
7 positive regulation of type I interferon production GO:0032481 9.63 PRKDC TMEM173
8 thymus development GO:0048538 9.63 ABL1 PRKDC RAG1
9 spleen development GO:0048536 9.62 ABL1 PRKDC
10 endothelial cell migration GO:0043542 9.62 ABL1 STAT1
11 chromosome organization GO:0051276 9.61 DCLRE1C LIG4
12 response to gamma radiation GO:0010332 9.61 LIG4 PRKDC
13 T cell differentiation in thymus GO:0033077 9.61 LIG4 PRKDC RAG1
14 positive regulation of defense response to virus by host GO:0002230 9.6 STAT1 TMEM173
15 activation of innate immune response GO:0002218 9.59 PRKDC TMEM173
16 negative regulation of cellular senescence GO:2000773 9.58 ABL1 PRKDC
17 cellular response to interferon-beta GO:0035458 9.58 STAT1 TMEM173
18 regulation of T cell differentiation GO:0045580 9.56 ABL1 RAG1
19 single strand break repair GO:0000012 9.55 LIG4 TDP1
20 double-strand break repair GO:0006302 9.55 DCLRE1C LIG4 NHEJ1 PRKDC TDP1
21 collateral sprouting GO:0048668 9.52 ABL1 EFNA5
22 T cell receptor V(D)J recombination GO:0033153 9.51 LIG4 PRKDC
23 immunoglobulin V(D)J recombination GO:0033152 9.49 LIG4 PRKDC
24 pro-B cell differentiation GO:0002328 9.48 LIG4 PRKDC
25 double-strand break repair via nonhomologous end joining GO:0006303 9.35 DCLRE1C LIG4 NHEJ1 PRKDC TP53BP1
26 V(D)J recombination GO:0033151 8.92 DCLRE1C LIG4 PRKDC RAG1

Molecular functions related to Severe Combined Immunodeficiency with Sensitivity to Ionizing Radiation according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 DNA binding GO:0003677 9.87 ABL1 LIG4 NHEJ1 PRKDC RAG1 STAT1
2 protein C-terminus binding GO:0008022 9.58 ABL1 EPB41 LIG4
3 protein binding GO:0005515 9.47 ABL1 DCLRE1C EFNA5 EPB41 LIG4 NHEJ1
4 double-stranded DNA binding GO:0003690 9.43 PRKDC STAT1 TDP1
5 ephrin receptor binding GO:0046875 9.37 ABL1 EFNA5
6 histone binding GO:0042393 9.33 RAG1 STAT1 TP53BP1
7 nuclease activity GO:0004518 9.13 DCLRE1C RAG1 TDP1

Sources for Severe Combined Immunodeficiency with Sensitivity to Ionizing...

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