Disease table of SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-POSITIVE, NK CELL-POSITIVE OMIM ID: 608971

Gene-disease associations table

GeneAssociated with SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-POSITIVE, NK CELL-POSITIVE inLink to HGNCCytogenetic bandNumber of associated diseasesAssociated diseases
IL7RClinVar, OMIMHGNC link5p13.21608971
PTPRCClinVar, OMIMHGNC link1q31.32608971, 609532

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Relations among genes:

Tandem repeat annotations from DGD
Cytogenetic band analysis
Transcription Factors (TF) annotation from TRRUST
regulated geneassociated to this disease# TFsTFs # TFs associated with this diseaseTFs associated with this disease
PTPRCYES1ESR20
Interactions from BIOGRID - physical
Interactions from BIOGRID - genetic
Interactions from STRING
Interactions from CORUM
Interactions from CENSUS
Interactions from PDB
Interactions from manually curated literature
Gene1Gene2Direct interactionMore information
IL7RPTPRCmaybeThey may be in interaction becasue PTPRC interacts with IL.
KEGG pathways annotation: shared terms / NET-GE enrichment

Shared terms

KEGG termKEGG term IDICNumber of genes with the same termGenes
Primary immunodeficiencyhsa053407.522PTPRC, IL7R

NET-GE enrichment

Term New enriched termICP valueGenes
Immune diseasesNEW4.470.034PTPRC, IL7R
Primary immunodeficiency (hsa05340) -7.520.0PTPRC, IL7R
Hematopoietic cell lineage (hsa04640) NEW6.180.014PTPRC, IL7R
REACTOME pathways annotation: shared terms (no NET-GE enrichment)

Shared terms

REACTOME termREACTOME term IDICNumber of genes with the same termGenes
Immune SystemR-HSA-1682562.372PTPRC, IL7R
GO - molecular function annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
signaling receptor activity (GO:0038023) 2.492PTPRC, IL7R
protein binding (GO:0005515) 0.462PTPRC, IL7R
molecular transducer activity (GO:0060089) 2.322PTPRC, IL7R
transmembrane signaling receptor activity (GO:0004888) 2.572PTPRC, IL7R
receptor activity (GO:0004872) 2.322PTPRC, IL7R
signal transducer activity (GO:0004871) 2.282PTPRC, IL7R
transmembrane receptor activity (GO:0099600) 2.532PTPRC, IL7R
binding (GO:0005488) 0.182PTPRC, IL7R

NET-GE enrichment

Term New enriched termICP valueGenes
antigen binding (GO:0003823) NEW5.020.023PTPRC, IL7R
GO - biological process annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
regulation of primary metabolic process (GO:0080090) 1.082PTPRC, IL7R
regulation of metabolic process (GO:0019222) 1.022PTPRC, IL7R
negative regulation of response to stimulus (GO:0048585) 2.522PTPRC, IL7R
regulation of response to stimulus (GO:0048583) 1.542PTPRC, IL7R
negative regulation of lymphocyte mediated immunity (GO:0002707) 6.152PTPRC, IL7R
regulation of lymphocyte mediated immunity (GO:0002706) 4.992PTPRC, IL7R
negative regulation of leukocyte mediated immunity (GO:0002704) 5.882PTPRC, IL7R
regulation of leukocyte mediated immunity (GO:0002703) 4.72PTPRC, IL7R
signal transduction (GO:0007165) 1.282PTPRC, IL7R
cell surface receptor signaling pathway (GO:0007166) 2.092PTPRC, IL7R
regulation of cell killing (GO:0031341) 5.62PTPRC, IL7R
negative regulation of cell killing (GO:0031342) 6.842PTPRC, IL7R
regulation of T cell mediated immunity (GO:0002709) 5.762PTPRC, IL7R
positive regulation of macromolecule metabolic process (GO:0010604) 1.812PTPRC, IL7R
positive regulation of cell adhesion (GO:0045785) 3.792PTPRC, IL7R
cellular developmental process (GO:0048869) 1.822PTPRC, IL7R
animal organ development (GO:0048513) 2.532PTPRC, IL7R
positive regulation of biological process (GO:0048518) 1.22PTPRC, IL7R
biological regulation (GO:0065007) 0.392PTPRC, IL7R
T cell differentiation (GO:0030217) 5.112PTPRC, IL7R
regulation of macromolecule metabolic process (GO:0060255) 1.082PTPRC, IL7R
regulation of adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domains (GO:0002822) 4.992PTPRC, IL7R
negative regulation of adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domains (GO:0002823) 6.22PTPRC, IL7R
negative regulation of adaptive immune response (GO:0002820) 6.122PTPRC, IL7R
lymphocyte activation (GO:0046649) 3.962PTPRC, IL7R
regulation of biological quality (GO:0065008) 1.682PTPRC, IL7R
immune system process (GO:0002376) 2.292PTPRC, IL7R
negative regulation of leukocyte mediated cytotoxicity (GO:0001911) 6.962PTPRC, IL7R
regulation of leukocyte mediated cytotoxicity (GO:0001910) 5.782PTPRC, IL7R
negative regulation of T cell mediated cytotoxicity (GO:0001915) 8.122PTPRC, IL7R
regulation of T cell mediated cytotoxicity (GO:0001914) 6.592PTPRC, IL7R
positive regulation of metabolic process (GO:0009893) 1.742PTPRC, IL7R
mononuclear cell proliferation (GO:0032943) 5.322PTPRC, IL7R
lymphocyte proliferation (GO:0046651) 5.352PTPRC, IL7R
regulation of biological process (GO:0050789) 0.452PTPRC, IL7R
positive regulation of immune system process (GO:0002684) 2.962PTPRC, IL7R
regulation of immune system process (GO:0002682) 2.52PTPRC, IL7R
negative regulation of immune system process (GO:0002683) 3.852PTPRC, IL7R
lymphocyte aggregation (GO:0071593) 4.442PTPRC, IL7R
single organism cell adhesion (GO:0098602) 3.632PTPRC, IL7R
cell-cell adhesion (GO:0098609) 3.342PTPRC, IL7R
regulation of cellular process (GO:0050794) 0.52PTPRC, IL7R
cell activation (GO:0001775) 3.472PTPRC, IL7R
leukocyte differentiation (GO:0002521) 4.132PTPRC, IL7R
single-organism developmental process (GO:0044767) 1.492PTPRC, IL7R
response to stimulus (GO:0050896) 1.222PTPRC, IL7R
regulation of leukocyte activation (GO:0002694) 3.62PTPRC, IL7R
regulation of immune effector process (GO:0002697) 3.712PTPRC, IL7R
positive regulation of leukocyte activation (GO:0002696) 4.02PTPRC, IL7R
leukocyte cell-cell adhesion (GO:0007159) 4.262PTPRC, IL7R
negative regulation of immune effector process (GO:0002698) 5.12PTPRC, IL7R
regulation of cell adhesion (GO:0030155) 3.272PTPRC, IL7R
cell differentiation (GO:0030154) 2.142PTPRC, IL7R
regulation of adaptive immune response (GO:0002819) 4.912PTPRC, IL7R
single-organism process (GO:0044699) 0.482PTPRC, IL7R
regulation of lymphocyte activation (GO:0051249) 3.732PTPRC, IL7R
positive regulation of leukocyte cell-cell adhesion (GO:1903039) 4.352PTPRC, IL7R
biological adhesion (GO:0022610) 2.812PTPRC, IL7R
regulation of leukocyte cell-cell adhesion (GO:1903037) 4.012PTPRC, IL7R
developmental process (GO:0032502) 1.362PTPRC, IL7R
cell proliferation (GO:0008283) 3.232PTPRC, IL7R
cellular process (GO:0009987) 0.262PTPRC, IL7R
positive regulation of T cell activation (GO:0050870) 4.392PTPRC, IL7R
regulation of T cell activation (GO:0050863) 4.052PTPRC, IL7R
negative regulation of biological process (GO:0048519) 1.332PTPRC, IL7R
negative regulation of immune response (GO:0050777) 4.942PTPRC, IL7R
regulation of immune response (GO:0050776) 2.982PTPRC, IL7R
leukocyte activation (GO:0045321) 3.762PTPRC, IL7R
positive regulation of lymphocyte activation (GO:0051251) 4.072PTPRC, IL7R
single-organism cellular process (GO:0044763) 0.652PTPRC, IL7R
lymphocyte differentiation (GO:0030098) 4.492PTPRC, IL7R
single organismal cell-cell adhesion (GO:0016337) 3.692PTPRC, IL7R
regulation of cell activation (GO:0050865) 3.532PTPRC, IL7R
positive regulation of cell activation (GO:0050867) 3.972PTPRC, IL7R
regulation of cellular metabolic process (GO:0031323) 1.072PTPRC, IL7R
B cell activation (GO:0042113) 4.842PTPRC, IL7R
T cell activation (GO:0042110) 4.452PTPRC, IL7R
homeostatic process (GO:0042592) 2.612PTPRC, IL7R
regulation of cell-cell adhesion (GO:0022407) 3.792PTPRC, IL7R
positive regulation of cell-cell adhesion (GO:0022409) 4.232PTPRC, IL7R
leukocyte proliferation (GO:0070661) 5.252PTPRC, IL7R
hematopoietic or lymphoid organ development (GO:0048534) 4.492PTPRC, IL7R
B cell proliferation (GO:0042100) 6.122PTPRC, IL7R
negative regulation of T cell mediated immunity (GO:0002710) 6.962PTPRC, IL7R
T cell aggregation (GO:0070489) 4.452PTPRC, IL7R
cell adhesion (GO:0007155) 2.822PTPRC, IL7R
leukocyte aggregation (GO:0070486) 4.412PTPRC, IL7R
anatomical structure development (GO:0048856) 1.582PTPRC, IL7R
positive regulation of cellular process (GO:0048522) 1.32PTPRC, IL7R

NET-GE enrichment

Term New enriched termICP valueGenes
B cell activation (GO:0042113) -4.840.018PTPRC, IL7R
regulation of adaptive immune response (GO:0002819) -4.910.031PTPRC, IL7R
negative regulation of lymphocyte mediated immunity (GO:0002707) -6.150.0PTPRC, IL7R
regulation of lymphocyte mediated immunity (GO:0002706) -4.990.025PTPRC, IL7R
positive regulation of T cell differentiation (GO:0045582) NEW5.520.004PTPRC, IL7R
negative regulation of leukocyte mediated immunity (GO:0002704) -5.880.0PTPRC, IL7R
regulation of leukocyte mediated immunity (GO:0002703) -4.70.034PTPRC, IL7R
regulation of cell killing (GO:0031341) -5.60.043PTPRC, IL7R
negative regulation of cell killing (GO:0031342) -6.840.0PTPRC, IL7R
regulation of T cell mediated immunity (GO:0002709) -5.760.011PTPRC, IL7R
regulation of leukocyte differentiation (GO:1902105) NEW4.260.047PTPRC, IL7R
leukocyte proliferation (GO:0070661) -5.250.008PTPRC, IL7R
positive regulation of lymphocyte differentiation (GO:0045621) NEW5.350.006PTPRC, IL7R
hematopoietic or lymphoid organ development (GO:0048534) -4.490.032PTPRC, IL7R
lymphocyte differentiation (GO:0030098) -4.490.032PTPRC, IL7R
T cell differentiation (GO:0030217) -5.110.01PTPRC, IL7R
regulation of adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domains (GO:0002822) -4.990.028PTPRC, IL7R
B cell proliferation (GO:0042100) -6.120.007PTPRC, IL7R
positive regulation of T cell activation (GO:0050870) -4.390.043PTPRC, IL7R
negative regulation of adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domains (GO:0002823) -6.20.003PTPRC, IL7R
negative regulation of T cell mediated immunity (GO:0002710) -6.960.001PTPRC, IL7R
T cell activation (GO:0042110) -4.450.04PTPRC, IL7R
lymphocyte proliferation (GO:0046651) -5.350.007PTPRC, IL7R
regulation of T cell differentiation (GO:0045580) NEW5.070.01PTPRC, IL7R
negative regulation of immune response (GO:0050777) -4.940.006PTPRC, IL7R
mononuclear cell proliferation (GO:0032943) -5.320.007PTPRC, IL7R
negative regulation of adaptive immune response (GO:0002820) -6.120.005PTPRC, IL7R
regulation of DNA recombination (GO:0000018) NEW5.650.02PTPRC, IL7R
positive regulation of leukocyte differentiation (GO:1902107) NEW4.850.014PTPRC, IL7R
negative regulation of leukocyte mediated cytotoxicity (GO:0001911) -6.960.0PTPRC, IL7R
regulation of leukocyte mediated cytotoxicity (GO:0001910) -5.780.035PTPRC, IL7R
regulation of lymphocyte differentiation (GO:0045619) NEW4.840.016PTPRC, IL7R
negative regulation of T cell mediated cytotoxicity (GO:0001915) -8.120.0PTPRC, IL7R
regulation of T cell mediated cytotoxicity (GO:0001914) -6.590.007PTPRC, IL7R
negative regulation of immune effector process (GO:0002698) -5.10.006PTPRC, IL7R
GO - cellular component annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
external side of plasma membrane (GO:0009897) 4.462PTPRC, IL7R
integral component of membrane (GO:0016021) 1.142PTPRC, IL7R
membrane (GO:0016020) 0.682PTPRC, IL7R
cell part (GO:0044464) 0.112PTPRC, IL7R
plasma membrane (GO:0005886) 1.392PTPRC, IL7R
side of membrane (GO:0098552) 4.222PTPRC, IL7R
membrane part (GO:0044425) 0.952PTPRC, IL7R
plasma membrane part (GO:0044459) 1.952PTPRC, IL7R
intrinsic component of membrane (GO:0031224) 1.132PTPRC, IL7R

NET-GE enrichment

Term New enriched termICP valueGenes
external side of plasma membrane (GO:0009897) -4.460.003PTPRC, IL7R
side of membrane (GO:0098552) -4.220.004PTPRC, IL7R