combined immunodeficiency - Ontology Report - Rat Genome Database

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RGD DISEASE ONTOLOGY - ANNOTATIONS

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RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:	combined immunodeficiency	go back to main search page
Accession:	DOID:0111962	browse the term
Definition:	A primary immunodeficiency disease that involves multiple components of the immune system. (DO)
Synonyms:	narrow_synonym:	MAN2B2-RELATED DISORDER

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Rat (943) Mouse (947) Human (24327) Chinchilla (850) Bonobo (941) Dog (912) Squirrel (865) Pig (914) Green Monkey (918) Naked Mole-rat (837) All
Genes (912)

combined immunodeficiency

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

adenosine deaminase RNA specific

ClinVar Annotator: match by term: Combined immunodeficiency

NCBI chr 7:42,762,021...42,785,192
Ensembl chr 7:42,748,136...42,782,999

G

actin related protein 2/3 complex subunit 1B

ClinVar Annotator: match by term: Combined immunodeficiency

PMID:25741868 PMID:27965109 PMID:28368018 PMID:28492532 PMID:29127144 More...

NCBI chr 6:10,192,299...10,198,383
Ensembl chr 6:10,178,462...10,198,309

G

BCL11 transcription factor B

ClinVar Annotator: match by term: Combined immunodeficiency

PMID:25627829 PMID:27959755

NCBI chr 8:67,622,592...67,713,922
Ensembl chr 8:67,622,708...67,714,404

G

calcium voltage-gated channel subunit alpha1 A

ClinVar Annotator: match by term: Combined immunodeficiency

PMID:25741868 PMID:26467025 PMID:28492532

NCBI chr20:48,747,087...49,036,627
Ensembl chr20:48,821,025...49,036,032

G

capping protein regulator and myosin 1 linker 2

ClinVar Annotator: match by term: Combined immunodeficiency

PMID:25741868 PMID:28112205

NCBI chr 5:81,792,683...81,804,274
Ensembl chr 5:81,792,155...81,804,152

G

CD27 molecule

ClinVar Annotator: match by term: Combined immunodeficiency

PMID:25741868 PMID:25843314 PMID:28492532 PMID:32499645

NCBI chr27:38,534,704...38,537,806
Ensembl chr27:38,534,707...38,537,604

G

COPI coat complex subunit gamma 1

NCBI chr20:2,832,150...2,860,356
Ensembl chr20:2,832,198...2,860,320

G

inducible T cell costimulator ligand

ClinVar Annotator: match by term: Combined immunodeficiency

PMID:25741868 PMID:30498080

NCBI chr31:38,084,861...38,094,743

G

mannosidase alpha class 2B member 2

ClinVar Annotator: match by term: MAN2B2-related disorder

PMID:25741868 PMID:31775018

NCBI chr 3:58,669,585...58,702,555

G

myosin heavy chain 7

ClinVar Annotator: match by term: Combined immunodeficiency

PMID:7581410 PMID:10521296 PMID:11186938 PMID:11447480 PMID:15358028 More...

NCBI chr 8:3,660,155...3,677,650
Ensembl chr 8:3,629,585...3,792,725

G

signal transducer and activator of transcription 1

ClinVar Annotator: match by term: Combined immunodeficiency

PMID:22730530 PMID:23534974 PMID:23541320 PMID:23709754 PMID:24239102 More...

NCBI chr37:1,513,438...1,549,837
Ensembl chr37:1,507,219...1,550,178

G

transferrin receptor

ClinVar Annotator: match by term: Combined immunodeficiency

PMID:25741868 PMID:26642240

NCBI chr33:29,206,024...29,237,221
Ensembl chr33:29,208,609...29,238,242

G

transmembrane and coiled-coil domains 1

ClinVar Annotator: match by term: Combined immunodeficiency

PMID:20018682 PMID:23320496 PMID:24033266 PMID:24194475 PMID:24424126 More...

NCBI chr38:17,579,540...17,630,701
Ensembl chr38:17,579,607...17,630,283

G

zeta chain of T cell receptor associated protein kinase 70

ClinVar Annotator: match by term: Combined immunodeficiency

PMID:20301777 PMID:25627829 PMID:25741868 PMID:26783323 PMID:28492532 More...

NCBI chr10:44,887,416...44,913,845
Ensembl chr10:44,887,433...44,900,071

adenosine deaminase deficiency

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

acyl-CoA thioesterase 8

ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency

PMID:26255240 PMID:26376800 PMID:28492532

NCBI chr24:33,149,415...33,163,086
Ensembl chr24:33,128,290...33,163,050

G

adenosine deaminase

ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
ClinVar Annotator: match by term: Bubble boy disease | ClinVar Annotator: match by term: SCID due to ADA deficiency, delayed onset | ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency

PMID:46025 PMID:498598 PMID:980079 PMID:1284479 PMID:1346349 More...

NCBI chr24:32,083,786...32,119,810
Ensembl chr24:32,083,931...32,111,160

G

cellular communication network factor 5

ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency

PMID:26255240 PMID:26376800 PMID:28492532

NCBI chr24:32,161,703...32,174,573
Ensembl chr24:32,161,216...32,173,866

G

CD247 molecule

ClinVar Annotator: match by term: Bubble boy disease

PMID:17170122 PMID:25741868 PMID:26542031 PMID:27872624 PMID:28492532 More...

NCBI chr 7:30,961,169...30,972,143

G

CD3 epsilon subunit of T-cell receptor complex

ClinVar Annotator: match by term: Bubble boy disease

PMID:25741868 PMID:28492532

NCBI chr 5:15,403,724...15,415,259
Ensembl chr 5:15,403,710...15,415,260

G

CD3 gamma subunit of T-cell receptor complex

ClinVar Annotator: match by term: Bubble boy disease

PMID:1635567 PMID:17277165 PMID:24910257 PMID:28492532 PMID:31921117

NCBI chr 5:15,379,788...15,391,271
Ensembl chr 5:15,380,633...15,391,214

G

CD40 molecule

ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency

PMID:26255240 PMID:26376800 PMID:28492532

NCBI chr24:33,352,992...33,383,488
Ensembl chr24:33,372,930...33,383,301

G

cadherin 22

ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency

PMID:26255240 PMID:26376800 PMID:28492532

NCBI chr24:33,424,567...33,492,162
Ensembl chr24:33,425,303...33,492,292

G

cathepsin A

ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency

PMID:26255240 PMID:26376800 PMID:28492532

NCBI chr24:33,183,090...33,189,248
Ensembl chr24:33,183,090...33,189,248

G

dysbindin domain containing 2

ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency

PMID:26255240 PMID:26376800 PMID:28492532

NCBI chr24:32,661,966...32,701,789
Ensembl chr24:32,697,708...32,700,203

G

deoxynucleotidyltransferase terminal interacting protein 1

ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency

PMID:26255240 PMID:26376800 PMID:28492532

NCBI chr24:33,102,756...33,127,445
Ensembl chr24:33,102,688...33,127,385

G

engulfment and cell motility 2

ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency

PMID:26255240 PMID:26376800 PMID:28492532

NCBI chr24:33,599,108...33,639,096
Ensembl chr24:33,600,444...33,626,665

G

fat storage inducing transmembrane protein 2

ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency

PMID:26255240 PMID:26376800 PMID:28492532

NCBI chr24:31,810,511...31,814,547
Ensembl chr24:31,810,263...31,814,870

G

ganglioside induced differentiation associated protein 1 like 1

ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency

PMID:26255240 PMID:26376800 PMID:28492532

NCBI chr24:31,771,235...31,797,155
Ensembl chr24:31,758,172...31,797,465

G

gametocyte specific factor 1 like

ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency

PMID:26255240 PMID:26376800 PMID:28492532

NCBI chr24:31,394,825...31,395,742
Ensembl chr24:31,394,627...31,395,377

G

hepatocyte nuclear factor 4 alpha

ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency

PMID:26255240 PMID:26376800 PMID:28492532

NCBI chr24:31,847,864...31,908,337
Ensembl chr24:31,847,961...31,905,916

G

intraflagellar transport 52

ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency

PMID:26255240 PMID:26376800 PMID:28492532

NCBI chr24:31,295,987...31,334,825
Ensembl chr24:31,296,015...31,334,808

G

Janus kinase 3

ClinVar Annotator: match by term: Bubble boy disease | ClinVar Annotator: match by term: Severe combined immunodeficiency due to adenosine deaminase deficiency

PMID:7481768 PMID:9354668 PMID:9753072 PMID:10900158 PMID:10982185 More...

NCBI chr20:45,051,135...45,068,445
Ensembl chr20:45,050,526...45,072,805

G

junctophilin 2

ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency

PMID:26255240 PMID:26376800 PMID:28492532

NCBI chr24:31,664,106...31,674,487
Ensembl chr24:31,665,771...31,687,228

G

potassium two pore domain channel subfamily K member 15

ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency

PMID:26255240 PMID:26376800 PMID:28492532

NCBI chr24:32,193,293...32,199,070
Ensembl chr24:32,193,238...32,198,254

G

potassium voltage-gated channel modifier subfamily S member 1

ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency

PMID:26255240 PMID:26376800 PMID:28492532

NCBI chr24:32,472,292...32,478,986
Ensembl chr24:32,474,881...32,479,717

G

protein WFDC9-like

ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency

PMID:26255240 PMID:26376800 PMID:28492532

NCBI chr24:32,922,063...32,929,964
Ensembl chr24:32,926,995...32,929,081

G

antileukoproteinase-like

ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency

PMID:26255240 PMID:26376800 PMID:28492532

NCBI chr24:32,531,619...32,545,712

G

WAP four-disulfide core domain protein 6A-like

ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency

PMID:26255240 PMID:26376800 PMID:28492532

G

matrilin 4

ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency

PMID:26255240 PMID:26376800 PMID:28492532

NCBI chr24:32,601,175...32,614,109
Ensembl chr24:32,599,508...32,613,872

G

menin 1

ClinVar Annotator: match by term: Severe combined immunodeficiency due to adenosine deaminase deficiency

PMID:20566584 PMID:22187299 PMID:24033266 PMID:25326637 PMID:25637381 More...

NCBI chr18:52,346,747...52,352,884
Ensembl chr18:52,346,933...52,353,340

G

matrix metallopeptidase 9

ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency

PMID:26255240 PMID:26376800 PMID:28492532

NCBI chr24:33,274,260...33,281,116
Ensembl chr24:33,274,268...33,281,293

G

MYB proto-oncogene like 2

ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency

PMID:26255240 PMID:26376800 PMID:28492532

NCBI chr24:31,339,570...31,382,626
Ensembl chr24:31,343,997...31,382,624

G

myosin heavy chain 7

ClinVar Annotator: match by term: Bubble boy disease

PMID:7581410 PMID:10521296 PMID:11186938 PMID:11447480 PMID:15358028 More...

NCBI chr 8:3,660,155...3,677,650
Ensembl chr 8:3,629,585...3,792,725

G

nuclear receptor coactivator 5

ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency

PMID:26255240 PMID:26376800 PMID:28492532

NCBI chr24:33,323,645...33,352,836
Ensembl chr24:33,322,650...33,352,809

G

neuralized E3 ubiquitin protein ligase 2

ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency

PMID:26255240 PMID:26376800 PMID:28492532

NCBI chr24:33,179,455...33,182,950
Ensembl chr24:33,180,731...33,182,714

G

osteoclast stimulatory transmembrane protein

ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency

PMID:26255240 PMID:26376800 PMID:28492532

NCBI chr24:33,796,582...33,802,385
Ensembl chr24:33,796,027...33,802,270

G

oxidative stress responsive serine rich 1

ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency

PMID:26255240 PMID:26376800 PMID:28492532

NCBI chr24:31,735,268...31,748,463
Ensembl chr24:31,735,664...31,748,587

G

poly(A) binding protein cytoplasmic 1 like

ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency

PMID:26255240 PMID:26376800 PMID:28492532

NCBI chr24:32,327,479...32,348,964
Ensembl chr24:32,327,494...32,349,071

G

phosphorylated CTD interacting factor 1

ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency

PMID:26255240 PMID:26376800 PMID:28492532

NCBI chr24:33,214,370...33,225,922
Ensembl chr24:33,214,419...33,226,732

G

peptidase inhibitor 3

ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency

PMID:26255240 PMID:26376800 PMID:28492532

NCBI chr24:32,504,697...32,506,214
Ensembl chr24:32,504,675...32,506,214

G

phosphatidylinositol glycan anchor biosynthesis class T

ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency

PMID:26255240 PMID:26376800 PMID:28492532

NCBI chr24:32,706,476...32,715,169
Ensembl chr24:32,706,028...32,715,168

G

cAMP-dependent protein kinase inhibitor gamma

ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency

PMID:26255240 PMID:26376800 PMID:28492532

NCBI chr24:31,983,131...32,083,307
Ensembl chr24:32,050,242...32,082,919

G

phospholipid transfer protein

ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency

PMID:26255240 PMID:26376800 PMID:28492532

NCBI chr24:33,189,098...33,199,935
Ensembl chr24:33,189,099...33,199,854

G

R3H domain containing like

ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency

PMID:26255240 PMID:26376800 PMID:28492532

NCBI chr24:31,829,484...31,839,355
Ensembl chr24:31,830,246...31,839,336

G

recombination activating 1

ClinVar Annotator: match by term: Bubble boy disease
ClinVar Annotator: match by term: Bubble boy disease | ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency

PMID:8810255 PMID:9630231 PMID:10635319 PMID:10701853 PMID:10891452 More...

NCBI chr18:31,628,231...31,639,980
Ensembl chr18:31,630,737...31,641,660

G

recombination activating 2

ClinVar Annotator: match by term: Bubble boy disease

PMID:15025726 PMID:24174341 PMID:25741868 PMID:26457731 PMID:28492532 More...

NCBI chr18:31,614,143...31,621,489
Ensembl chr18:31,618,481...31,620,064

G

recombination signal binding protein for immunoglobulin kappa J region like

ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency

PMID:26255240 PMID:26376800 PMID:28492532

NCBI chr24:32,615,934...32,625,183
Ensembl chr24:32,612,386...32,624,567

G

regulating synaptic membrane exocytosis 4

ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency

PMID:26255240 PMID:26376800 PMID:28492532

NCBI chr24:32,199,068...32,256,474
Ensembl chr24:32,203,410...32,256,480

G

syndecan 4

ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency

PMID:26255240 PMID:26376800 PMID:28492532

NCBI chr24:32,628,704...32,648,809
Ensembl chr24:32,630,437...32,649,114

G

serine incorporator 3

ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency

PMID:26255240 PMID:26376800 PMID:28492532

NCBI chr24:31,961,828...31,982,265
Ensembl chr24:31,963,840...31,982,165

G

solute carrier family 12 member 5

ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency

PMID:26255240 PMID:26376800 PMID:28492532

NCBI chr24:33,285,773...33,322,885
Ensembl chr24:33,285,852...33,321,567

G

solute carrier family 13 member 3

ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency

PMID:26255240 PMID:26376800 PMID:28492532

NCBI chr24:33,810,594...33,884,169
Ensembl chr24:33,809,731...33,884,139

G

solute carrier family 2 member 10

ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency

PMID:26255240 PMID:26376800 PMID:28492532

NCBI chr24:33,905,099...33,920,604
Ensembl chr24:33,905,203...33,919,454

G

solute carrier family 35 member C2

ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency

PMID:26255240 PMID:26376800 PMID:28492532

NCBI chr24:33,584,040...33,592,408
Ensembl chr24:33,584,082...33,597,571

G

secretory leukocyte peptidase inhibitor

ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency

PMID:26255240 PMID:26376800 PMID:28492532

NCBI chr24:32,566,030...32,568,406
Ensembl chr24:32,566,026...32,568,420

G

sorting nexin family member 21

ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency

PMID:26255240 PMID:26376800 PMID:28492532

NCBI chr24:33,143,459...33,149,418
Ensembl chr24:33,143,837...33,149,510

G

spermatogenesis associated 25

ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency

PMID:26255240 PMID:26376800 PMID:28492532

NCBI chr24:33,177,905...33,179,862
Ensembl chr24:33,178,697...33,179,766

G

serine peptidase inhibitor, Kunitz type 3

ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency

PMID:26255240 PMID:26376800 PMID:28492532

NCBI chr24:32,721,798...32,724,433
Ensembl chr24:32,721,798...32,724,408

G

serine peptidase inhibitor, Kunitz type 4

ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency

PMID:26255240 PMID:26376800 PMID:28492532

NCBI chr24:33,035,050...33,037,192
Ensembl chr24:33,034,698...33,036,124

G

serine/threonine kinase 4

ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency

PMID:26255240 PMID:26376800 PMID:28492532

NCBI chr24:32,375,630...32,463,848
Ensembl chr24:32,375,189...32,521,042

G

SYS1 golgi trafficking protein

ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency

PMID:26255240 PMID:26376800 PMID:28492532

NCBI chr24:32,661,665...32,666,267
Ensembl chr24:32,661,381...32,665,276

G

troponin C2, fast skeletal type

ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency

PMID:26255240 PMID:26376800 PMID:28492532

NCBI chr24:33,136,644...33,139,289
Ensembl chr24:33,128,290...33,163,050

G

translocase of outer mitochondrial membrane 34

ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency

PMID:26255240 PMID:26376800 PMID:28492532

NCBI chr24:32,351,015...32,368,744
Ensembl chr24:32,351,097...32,376,067

G

TOX high mobility group box family member 2

ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency

PMID:26255240 PMID:26376800 PMID:28492532

NCBI chr24:31,523,323...31,656,361
Ensembl chr24:31,522,798...31,656,373

G

TP53 regulating kinase

ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency

PMID:26255240 PMID:26376800 PMID:28492532

NCBI chr24:33,895,530...33,898,461
Ensembl chr24:33,895,640...33,898,446

G

TP53 target 5

ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency

PMID:26255240 PMID:26376800 PMID:28492532

NCBI chr24:32,672,193...32,675,873
Ensembl chr24:32,672,985...32,675,629

G

alpha tocopherol transfer protein like

ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency

PMID:26255240 PMID:26376800 PMID:28492532

NCBI chr24:31,920,499...31,958,799
Ensembl chr24:31,944,626...31,955,439

G

ubiquitin conjugating enzyme E2 C

ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency

PMID:26255240 PMID:26376800 PMID:28492532

NCBI chr24:33,128,300...33,133,637
Ensembl chr24:33,128,335...33,132,023

G

WAP four-disulfide core domain 10A

ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency

PMID:26255240 PMID:26376800 PMID:28492532

NCBI chr24:32,909,505...32,910,890
Ensembl chr24:32,909,505...32,910,860

G

WAP four-disulfide core domain 10B

ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency

PMID:26255240 PMID:26376800 PMID:28492532

NCBI chr24:33,004,209...33,006,293
Ensembl chr24:33,004,365...33,006,332

G

WAP four-disulfide core domain 11

ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency

PMID:26255240 PMID:26376800 PMID:28492532

NCBI chr24:32,952,268...33,002,489

G

WAP four-disulfide core domain 13

ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency

PMID:26255240 PMID:26376800 PMID:28492532

NCBI chr24:33,011,202...33,029,260
Ensembl chr24:33,011,272...33,019,696

G

WAP four-disulfide core domain 2

ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency

PMID:26255240 PMID:26376800 PMID:28492532

NCBI chr24:32,759,763...32,764,620
Ensembl chr24:32,759,696...32,764,620

G

WAP four-disulfide core domain 3

ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency

PMID:26255240 PMID:26376800 PMID:28492532

NCBI chr24:33,087,487...33,102,721
Ensembl chr24:33,087,547...33,102,872

G

WAP four-disulfide core domain 5

ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency

PMID:26255240 PMID:26376800 PMID:28492532

NCBI chr24:32,487,339...32,492,660
Ensembl chr24:32,487,348...32,510,990

G

WAP four-disulfide core domain 8

ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency

PMID:26255240 PMID:26376800 PMID:28492532

NCBI chr24:32,813,432...32,829,108
Ensembl chr24:32,814,662...32,823,340

G

tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein beta

ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency

PMID:26255240 PMID:26376800 PMID:28492532

NCBI chr24:32,304,808...32,325,789
Ensembl chr24:32,304,812...32,323,938

G

zinc finger protein 334

ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency

PMID:26255240 PMID:26376800 PMID:28492532

NCBI chr24:33,685,303...33,704,217

G

zinc finger protein 335

ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency

PMID:26255240 PMID:26376800 PMID:28492532

NCBI chr24:33,226,636...33,246,496
Ensembl chr24:33,226,688...33,245,901

G

zinc finger SWIM-type containing 1

ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency

PMID:26255240 PMID:26376800 PMID:28492532

NCBI chr24:33,174,950...33,177,754
Ensembl chr24:33,176,156...33,177,526

G

zinc finger SWIM-type containing 3

ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency

PMID:26255240 PMID:26376800 PMID:28492532

NCBI chr24:33,163,260...33,173,938
Ensembl chr24:33,163,491...33,173,954

CD3epsilon deficiency

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ATP binding cassette subfamily G member 4

ClinVar Annotator: match by term: CD3epsilon deficiency

NCBI chr 5:14,707,964...14,720,782
Ensembl chr 5:14,707,960...14,721,240

G

apolipoprotein A1

ClinVar Annotator: match by term: CD3epsilon deficiency

NCBI chr 5:16,740,071...16,742,081
Ensembl chr 5:16,740,130...16,741,943

G

apolipoprotein A4

ClinVar Annotator: match by term: CD3epsilon deficiency

NCBI chr 5:16,751,588...16,754,215
Ensembl chr 5:16,751,799...16,754,837

G

apolipoprotein C3

ClinVar Annotator: match by term: CD3epsilon deficiency

NCBI chr 5:16,744,423...16,746,992
Ensembl chr 5:16,744,423...16,746,992

G

archain 1

ClinVar Annotator: match by term: CD3epsilon deficiency

PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More...

NCBI chr 5:15,141,861...15,171,642
Ensembl chr 5:15,143,499...15,171,586

G

Rho guanine nucleotide exchange factor 12

ClinVar Annotator: match by term: CD3epsilon deficiency

NCBI chr 5:13,519,094...13,669,154
Ensembl chr 5:13,522,896...13,669,155

G

ATP synthase membrane subunit g

ClinVar Annotator: match by term: CD3epsilon deficiency

PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More...

NCBI chr 5:15,329,060...15,336,344

G

beta-secretase 1

ClinVar Annotator: match by term: CD3epsilon deficiency

NCBI chr 5:16,308,953...16,319,100
Ensembl chr 5:16,308,944...16,319,100

G

BCL9 like

ClinVar Annotator: match by term: CD3epsilon deficiency

PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More...

NCBI chr 5:14,893,548...14,919,121
Ensembl chr 5:14,900,208...14,919,193

G

C1q and TNF related 5

ClinVar Annotator: match by term: CD3epsilon deficiency

NCBI chr 5:14,561,115...14,563,277
Ensembl chr 5:14,562,350...14,563,309

G

C2CD2 like

ClinVar Annotator: match by term: CD3epsilon deficiency

NCBI chr 5:14,746,613...14,755,952
Ensembl chr 5:14,747,208...14,755,925

G

Cbl proto-oncogene

ClinVar Annotator: match by term: CD3epsilon deficiency

NCBI chr 5:14,600,409...14,676,974
Ensembl chr 5:14,607,013...14,676,956

G

CD3 delta subunit of T-cell receptor complex

ClinVar Annotator: match by term: CD3epsilon deficiency

PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More...

NCBI chr 5:15,392,841...15,396,745
Ensembl chr 5:15,389,243...15,396,750

G

CD3 epsilon subunit of T-cell receptor complex

ClinVar Annotator: match by term: CD3epsilon deficiency

PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More...

NCBI chr 5:15,403,724...15,415,259
Ensembl chr 5:15,403,710...15,415,260

G

CD3 gamma subunit of T-cell receptor complex

ClinVar Annotator: match by term: CD3epsilon deficiency

PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More...

NCBI chr 5:15,379,788...15,391,271
Ensembl chr 5:15,380,633...15,391,214

G

centrosomal AT-AC splicing factor

ClinVar Annotator: match by term: CD3epsilon deficiency

PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More...

NCBI chr 5:14,836,293...14,843,731
Ensembl chr 5:14,836,291...14,843,875

G

centrosomal protein 164

ClinVar Annotator: match by term: CD3epsilon deficiency

NCBI chr 5:16,227,369...16,290,781
Ensembl chr 5:16,227,292...16,291,229

G

C-X-C motif chemokine receptor 5

ClinVar Annotator: match by term: CD3epsilon deficiency

PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More...

NCBI chr 5:14,921,447...14,932,937
Ensembl chr 5:14,923,089...14,932,762

G

DEAD-box helicase 6

ClinVar Annotator: match by term: CD3epsilon deficiency

PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More...

NCBI chr 5:15,001,988...15,034,128
Ensembl chr 5:15,002,246...15,032,348

G

dolichyl-phosphate N-acetylglucosaminephosphotransferase 1

ClinVar Annotator: match by term: CD3epsilon deficiency

PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More...

NCBI chr 5:14,760,518...14,765,306
Ensembl chr 5:14,760,784...14,764,967

G

dynein regulatory complex subunit 12 homolog

ClinVar Annotator: match by term: CD3epsilon deficiency

NCBI chr 5:14,679,180...14,686,446
Ensembl chr 5:14,682,004...14,686,150

G

DS cell adhesion molecule like 1

ClinVar Annotator: match by term: CD3epsilon deficiency

NCBI chr 5:15,839,504...16,187,465
Ensembl chr 5:15,826,726...16,186,880

G

forkhead box R1

ClinVar Annotator: match by term: CD3epsilon deficiency

PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More...

NCBI chr 5:14,852,381...14,861,364
Ensembl chr 5:14,852,205...14,861,728

G

FXYD domain containing ion transport regulator 2

ClinVar Annotator: match by term: CD3epsilon deficiency

NCBI chr 5:15,812,335...15,824,552
Ensembl chr 5:15,815,969...15,823,057

G

FXYD domain containing ion transport regulator 6

ClinVar Annotator: match by term: CD3epsilon deficiency

NCBI chr 5:15,801,790...15,807,601
Ensembl chr 5:15,771,390...15,807,601

G

glutamate ionotropic receptor kainate type subunit 4

ClinVar Annotator: match by term: CD3epsilon deficiency

NCBI chr 5:13,075,323...13,453,458
Ensembl chr 5:13,073,968...13,370,034

G

H2A.X variant histone

ClinVar Annotator: match by term: CD3epsilon deficiency

PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More...

NCBI chr 5:14,765,625...14,766,590
Ensembl chr 5:14,766,126...14,766,557

G

histone H4 transcription factor

ClinVar Annotator: match by term: CD3epsilon deficiency

NCBI chr 5:14,731,592...14,742,893
Ensembl chr 5:14,731,588...14,742,559

G

hydroxymethylbilane synthase

ClinVar Annotator: match by term: CD3epsilon deficiency

PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More...

NCBI chr 5:14,767,306...14,775,205
Ensembl chr 5:14,767,666...14,775,082

G

hypoxia up-regulated 1

ClinVar Annotator: match by term: CD3epsilon deficiency

PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More...

NCBI chr 5:14,795,750...14,808,203
Ensembl chr 5:14,795,750...14,807,262

G

intraflagellar transport 46

ClinVar Annotator: match by term: CD3epsilon deficiency

PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More...

NCBI chr 5:15,179,287...15,197,737
Ensembl chr 5:15,170,854...15,197,736

G

interleukin 10 receptor subunit alpha

ClinVar Annotator: match by term: CD3epsilon deficiency

PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More...

NCBI chr 5:15,675,775...15,688,935
Ensembl chr 5:15,677,547...15,682,163

G

junction adhesion molecule like

ClinVar Annotator: match by term: CD3epsilon deficiency

PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More...

NCBI chr 5:15,485,378...15,513,457
Ensembl chr 5:15,476,582...15,513,075

G

lysine methyltransferase 2A

ClinVar Annotator: match by term: CD3epsilon deficiency

PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More...

NCBI chr 5:15,212,559...15,302,825
Ensembl chr 5:15,217,348...15,270,971

G

melanoma cell adhesion molecule

ClinVar Annotator: match by term: CD3epsilon deficiency

NCBI chr 5:14,590,252...14,598,901
Ensembl chr 5:14,567,238...14,598,149

G

membrane frizzled-related protein

ClinVar Annotator: match by term: CD3epsilon deficiency

NCBI chr 5:14,555,619...14,561,577
Ensembl chr 5:14,556,065...14,561,623

G

myelin protein zero like 2

ClinVar Annotator: match by term: CD3epsilon deficiency

PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More...

NCBI chr 5:15,446,803...15,458,667
Ensembl chr 5:15,447,104...15,458,515

G

myelin protein zero like 3

ClinVar Annotator: match by term: CD3epsilon deficiency

PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More...

NCBI chr 5:15,460,147...15,485,274
Ensembl chr 5:15,460,211...15,484,202

G

nectin cell adhesion molecule 1

ClinVar Annotator: match by term: CD3epsilon deficiency

NCBI chr 5:14,228,197...14,292,825
Ensembl chr 5:14,228,197...14,315,060

G

NHERF family PDZ scaffold protein 4

ClinVar Annotator: match by term: CD3epsilon deficiency

NCBI chr 5:14,687,868...14,692,474
Ensembl chr 5:14,687,905...14,692,128

G

NLR family member X1

ClinVar Annotator: match by term: CD3epsilon deficiency

NCBI chr 5:14,692,621...14,705,214
Ensembl chr 5:14,564,935...14,705,257

G

out at first homolog

ClinVar Annotator: match by term: CD3epsilon deficiency

NCBI chr 5:13,771,208...13,798,387
Ensembl chr 5:13,771,659...13,783,190

G

platelet activating factor acetylhydrolase 1b catalytic subunit 2

ClinVar Annotator: match by term: CD3epsilon deficiency

G

proprotein convertase subtilisin/kexin type 7

ClinVar Annotator: match by term: CD3epsilon deficiency

NCBI chr 5:16,367,737...16,389,991
Ensembl chr 5:16,367,116...16,390,006

G

pleckstrin homology like domain family B member 1

ClinVar Annotator: match by term: CD3epsilon deficiency

PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More...

NCBI chr 5:15,090,823...15,138,397
Ensembl chr 5:15,090,813...15,134,784

G

POU class 2 homeobox 3

ClinVar Annotator: match by term: CD3epsilon deficiency

NCBI chr 5:13,693,686...13,761,295
Ensembl chr 5:13,688,959...13,761,847

G

ring finger protein 214

ClinVar Annotator: match by term: CD3epsilon deficiency

NCBI chr 5:16,319,460...16,364,301
Ensembl chr 5:16,319,698...16,364,493

G

ring finger protein 26

ClinVar Annotator: match by term: CD3epsilon deficiency

NCBI chr 5:14,564,949...14,567,756

G

ribosomal protein S25

ClinVar Annotator: match by term: CD3epsilon deficiency

PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More...

NCBI chr 5:14,833,804...14,836,376
Ensembl chr 5:14,833,918...14,836,749

G

sterol-C5-desaturase

ClinVar Annotator: match by term: CD3epsilon deficiency

NCBI chr 5:12,760,591...12,774,484
Ensembl chr 5:12,763,286...12,775,393

G

sodium voltage-gated channel beta subunit 2

ClinVar Annotator: match by term: CD3epsilon deficiency

PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More...

NCBI chr 5:15,514,760...15,534,179
Ensembl chr 5:15,521,481...15,534,179

G

sodium voltage-gated channel beta subunit 4

ClinVar Annotator: match by term: CD3epsilon deficiency

PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More...

NCBI chr 5:15,552,347...15,564,085
Ensembl chr 5:15,543,632...15,563,486

G

SID1 transmembrane family member 2

ClinVar Annotator: match by term: CD3epsilon deficiency

NCBI chr 5:16,397,532...16,410,827
Ensembl chr 5:16,398,815...16,411,268

G

SIK family kinase 3

ClinVar Annotator: match by term: CD3epsilon deficiency

NCBI chr 5:16,623,756...16,733,259
Ensembl chr 5:16,527,504...16,733,243

G

solute carrier family 37 member 4

ClinVar Annotator: match by term: CD3epsilon deficiency

PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More...

NCBI chr 5:14,823,485...14,830,007
Ensembl chr 5:14,823,499...14,830,004

G

sortilin related receptor 1

ClinVar Annotator: match by term: CD3epsilon deficiency

NCBI chr 5:12,493,750...12,650,530
Ensembl chr 5:12,431,377...12,650,784

G

transgelin

ClinVar Annotator: match by term: CD3epsilon deficiency

NCBI chr 5:16,390,259...16,395,471
Ensembl chr 5:16,390,573...16,397,207

G

tubulin folding cofactor E like

ClinVar Annotator: match by term: CD3epsilon deficiency

NCBI chr 5:12,963,356...13,035,525
Ensembl chr 5:12,964,523...13,035,613

G

tectorin alpha

ClinVar Annotator: match by term: CD3epsilon deficiency

NCBI chr 5:12,879,963...12,949,211
Ensembl chr 5:12,879,951...12,949,147

G

Thy-1 cell surface antigen

ClinVar Annotator: match by term: CD3epsilon deficiency

NCBI chr 5:14,503,902...14,509,113
Ensembl chr 5:14,503,902...14,509,113

G

TLC domain containing 5

ClinVar Annotator: match by term: CD3epsilon deficiency

NCBI chr 5:13,673,059...13,681,139
Ensembl chr 5:13,675,878...13,681,287

G

transmembrane protein 25

ClinVar Annotator: match by term: CD3epsilon deficiency

PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More...

NCBI chr 5:15,202,726...15,207,252
Ensembl chr 5:15,203,974...15,206,704

G

transmembrane serine protease 13

ClinVar Annotator: match by term: CD3epsilon deficiency

NCBI chr 5:15,726,007...15,754,767
Ensembl chr 5:15,700,458...15,753,543

G

transmembrane serine protease 4

ClinVar Annotator: match by term: CD3epsilon deficiency

PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More...

NCBI chr 5:15,575,068...15,609,819
Ensembl chr 5:15,575,338...15,610,190

G

trafficking protein particle complex subunit 4

ClinVar Annotator: match by term: CD3epsilon deficiency

PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More...

NCBI chr 5:14,830,604...14,833,444
Ensembl chr 5:14,830,611...14,833,447

G

trehalase

ClinVar Annotator: match by term: CD3epsilon deficiency

PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More...

NCBI chr 5:15,085,038...15,090,667
Ensembl chr 5:15,071,802...15,090,522

G

tripartite motif containing 29

ClinVar Annotator: match by term: CD3epsilon deficiency

NCBI chr 5:13,853,514...13,880,517
Ensembl chr 5:13,853,553...13,880,073

G

tetratricopeptide repeat domain 36

ClinVar Annotator: match by term: CD3epsilon deficiency

PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More...

NCBI chr 5:15,207,400...15,211,905
Ensembl chr 5:15,207,403...15,211,853

G

ubiquitination factor E4A

ClinVar Annotator: match by term: CD3epsilon deficiency

PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More...

NCBI chr 5:15,338,279...15,375,722
Ensembl chr 5:15,341,141...15,370,294

G

uroplakin 2

ClinVar Annotator: match by term: CD3epsilon deficiency

PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More...

NCBI chr 5:14,868,064...14,872,527
Ensembl chr 5:14,868,051...14,871,153

G

ubiquitin specific peptidase 2

ClinVar Annotator: match by term: CD3epsilon deficiency

NCBI chr 5:14,525,685...14,550,914
Ensembl chr 5:14,525,797...14,549,291

G

VPS11 core subunit of CORVET and HOPS complexes

ClinVar Annotator: match by term: CD3epsilon deficiency

PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More...

NCBI chr 5:14,776,975...14,786,736
Ensembl chr 5:14,776,976...14,786,692

CD40 ligand deficiency

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

CD40 molecule

ClinVar Annotator: match by term: Immunodeficiency, X-linked, with hyper-IgM

NCBI chr24:33,352,992...33,383,488
Ensembl chr24:33,372,930...33,383,301

G

CD40 ligand

disease_progression

ClinVar Annotator: match by term: Immunodeficiency, X-linked, with hyper-IgM | ClinVar Annotator: match by term: X-linked hyper-IgM syndrome

OMIM
ClinVar
RGD

PMID:21841160 PMID:25741868 PMID:28492532

NCBI chr X:107,001,421...107,023,007
Ensembl chr X:107,010,890...107,023,006

combined cellular and humoral immune defects with granulomas

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

intraflagellar transport associated protein

ClinVar Annotator: match by term: Combined immunodeficiency with skin granulomas

PMID:8810255 PMID:11133745 PMID:24290284 PMID:25739914 PMID:28492532

NCBI chr18:31,553,965...31,618,147
Ensembl chr18:31,556,023...31,618,123

G

recombination activating 1

ClinVar Annotator: match by term: Combined cellular and humoral immune defects with granulomas | ClinVar Annotator: match by term: Combined immunodeficiency with skin granulomas

PMID:290284 PMID:2682973 PMID:2808362 PMID:8810255 PMID:9630231 More...

NCBI chr18:31,628,231...31,639,980
Ensembl chr18:31,630,737...31,641,660

G

recombination activating 2

ClinVar Annotator: match by term: Combined cellular and humoral immune defects with granulomas | ClinVar Annotator: match by term: Combined immunodeficiency with skin granulomas

PMID:2618670 PMID:8810255 PMID:9630231 PMID:10777560 PMID:10891502 More...

NCBI chr18:31,614,143...31,621,489
Ensembl chr18:31,618,481...31,620,064

Combined Immunodeficiency and Megaloblastic Anemia with or without Hyperhomocysteinemia

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1

susceptibility

ClinVar Annotator: match by term: Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia

PMID:11004530 PMID:15633187 PMID:16199547 PMID:16315005 PMID:16552426 More...

NCBI chr 8:38,831,672...38,889,607
Ensembl chr 8:38,831,860...38,889,453

Combined Immunodeficiency with Autoimmunity and Spondylometaphyseal Dysplasia

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

acid phosphatase 5, tartrate resistant

ClinVar Annotator: match by term: Spondyloenchondrodysplasia with immune dysregulation

PMID:2363422 PMID:9536098 PMID:12786759 PMID:13524805 PMID:16470600 More...

NCBI chr20:49,812,444...49,816,262
Ensembl chr20:49,814,032...49,816,260

combined T cell and B cell immunodeficiency

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

adenosine deaminase RNA specific

ClinVar Annotator: match by term: Congenital combined immunodeficiency

NCBI chr 7:42,762,021...42,785,192
Ensembl chr 7:42,748,136...42,782,999

G

calcium voltage-gated channel subunit alpha1 A

ClinVar Annotator: match by term: Combined T and B cell immunodeficiency

PMID:25741868 PMID:26467025 PMID:28492532

NCBI chr20:48,747,087...49,036,627
Ensembl chr20:48,821,025...49,036,032

G

capping protein regulator and myosin 1 linker 2

ClinVar Annotator: match by term: Combined T and B cell immunodeficiency

NCBI chr 5:81,792,683...81,804,274
Ensembl chr 5:81,792,155...81,804,152

G

CD27 molecule

ClinVar Annotator: match by term: Combined T and B cell immunodeficiency

PMID:25741868 PMID:25843314 PMID:28492532 PMID:32499645

NCBI chr27:38,534,704...38,537,806
Ensembl chr27:38,534,707...38,537,604

G

CD40 ligand

DNA:polymorphism: :p.G219R (human)

NCBI chr X:107,001,421...107,023,007
Ensembl chr X:107,010,890...107,023,006

G

interleukin 2 receptor subunit gamma

Severe combined immunodeficiency disease, X-linked
ClinVar Annotator: match by term: Combined immunodeficiency, X-linked | ClinVar Annotator: match by term: X-Linked Combined Immunodeficiency Diseases

OMIM
OMIA
ClinVar

PMID:7557965 PMID:7632950 PMID:7668284 PMID:7883965 PMID:7973658 More...

NCBI chr X:55,480,846...55,488,485
Ensembl chr X:55,481,092...55,484,751

G

myosin heavy chain 7

ClinVar Annotator: match by term: Combined T and B cell immunodeficiency

PMID:7581410 PMID:10521296 PMID:11186938 PMID:11447480 PMID:15358028 More...

NCBI chr 8:3,660,155...3,677,650
Ensembl chr 8:3,629,585...3,792,725

G

signal transducer and activator of transcription 1

ClinVar Annotator: match by term: Combined T and B cell immunodeficiency

PMID:22730530 PMID:23534974 PMID:23541320 PMID:23709754 PMID:24239102 More...

NCBI chr37:1,513,438...1,549,837
Ensembl chr37:1,507,219...1,550,178

G

transferrin receptor

ClinVar Annotator: match by term: Combined T and B cell immunodeficiency

PMID:25741868 PMID:26642240

NCBI chr33:29,206,024...29,237,221
Ensembl chr33:29,208,609...29,238,242

G

transmembrane and coiled-coil domains 1

ClinVar Annotator: match by term: Combined T and B cell immunodeficiency

PMID:20018682 PMID:23320496 PMID:24033266 PMID:24194475 PMID:24424126 More...

NCBI chr38:17,579,540...17,630,701
Ensembl chr38:17,579,607...17,630,283

coronin-1A deficiency

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

aldolase, fructose-bisphosphate A

ClinVar Annotator: match by term: Immunodeficiency 8

PMID:2825199 PMID:14615364 PMID:18836449 PMID:22515636 PMID:22623405 More...

NCBI chr 6:18,077,241...18,083,053

G

aspartate beta-hydroxylase domain containing 1

ClinVar Annotator: match by term: Immunodeficiency 8

PMID:2825199 PMID:14615364 PMID:18836449 PMID:22515636 PMID:22623405 More...

NCBI chr 6:17,941,306...17,945,594
Ensembl chr 6:17,941,574...17,945,217

G

bolA family member 2B

ClinVar Annotator: match by term: IMMUNODEFICIENCY 8 WITH LYMPHOPROLIFERATION

NCBI chr 6:18,170,106...18,171,012

G

chromosome 6 C16orf92 homolog

ClinVar Annotator: match by term: Immunodeficiency 8

PMID:2825199 PMID:14615364 PMID:18836449 PMID:22515636 PMID:22623405 More...

NCBI chr 6:18,051,019...18,053,729
Ensembl chr 6:18,052,621...18,054,126

G

CDP-diacylglycerol--inositol 3-phosphatidyltransferase

ClinVar Annotator: match by term: Immunodeficiency 8

PMID:2825199 PMID:14615364 PMID:18836449 PMID:22515636 PMID:22623405 More...

NCBI chr 6:17,910,141...17,914,573
Ensembl chr 6:17,910,192...17,914,653

G

coronin 1A

ClinVar Annotator: match by term: IMMUNODEFICIENCY 8 WITH LYMPHOPROLIFERATION | ClinVar Annotator: match by term: Immunodeficiency 8

PMID:2825199 PMID:9536098 PMID:14615364 PMID:16199547 PMID:17576681 More...

NCBI chr 6:18,161,850...18,167,915
Ensembl chr 6:18,160,601...18,167,818

G

double C2 domain alpha

ClinVar Annotator: match by term: Immunodeficiency 8

PMID:2825199 PMID:14615364 PMID:18836449 PMID:22515636 PMID:22623405 More...

NCBI chr 6:18,041,551...18,046,779
Ensembl chr 6:18,041,296...18,046,265

G

glycerophosphodiester phosphodiesterase domain containing 3

ClinVar Annotator: match by term: Immunodeficiency 8

PMID:2825199 PMID:14615364 PMID:18836449 PMID:22515636 PMID:22623405 More...

NCBI chr 6:18,103,273...18,108,818
Ensembl chr 6:18,103,267...18,108,533

G

HIRA interacting protein 3

ClinVar Annotator: match by term: Immunodeficiency 8

PMID:2825199 PMID:14615364 PMID:18836449 PMID:22515636 PMID:22623405 More...

NCBI chr 6:18,030,070...18,032,774
Ensembl chr 6:18,030,074...18,032,730

G

INO80 complex subunit E

ClinVar Annotator: match by term: Immunodeficiency 8

PMID:2825199 PMID:14615364 PMID:18836449 PMID:22515636 PMID:22623405 More...

NCBI chr 6:18,033,366...18,041,604
Ensembl chr 6:18,033,363...18,041,308

G

potassium channel tetramerization domain containing 13

ClinVar Annotator: match by term: Immunodeficiency 8

PMID:2825199 PMID:14615364 PMID:18836449 PMID:22515636 PMID:22623405 More...

NCBI chr 6:17,945,541...17,959,421
Ensembl chr 6:17,946,062...17,959,232

G

kinesin family member 22

ClinVar Annotator: match by term: Immunodeficiency 8

PMID:2825199 PMID:14615364 PMID:18836449 PMID:22515636 PMID:22623405 More...

NCBI chr 6:17,853,190...17,865,386
Ensembl chr 6:17,853,149...17,865,386

G

atherin

ClinVar Annotator: match by term: Immunodeficiency 8

PMID:18836449 PMID:25073507 PMID:28492532

NCBI chr 6:18,069,839...18,077,265

G

LPS responsive beige-like anchor protein

ClinVar Annotator: match by term: Immunodeficiency 8

PMID:16199547 PMID:25741868 PMID:26206937 PMID:26768763 PMID:28492532

NCBI chr15:48,273,866...48,996,546
Ensembl chr15:48,274,881...48,995,697

G

mitogen-activated protein kinase 3

ClinVar Annotator: match by term: Immunodeficiency 8

PMID:2825199 PMID:14615364 PMID:18836449 PMID:22515636 PMID:22623405 More...

NCBI chr 6:18,109,184...18,115,728
Ensembl chr 6:18,109,222...18,114,425

G

MYC associated zinc finger protein

ClinVar Annotator: match by term: Immunodeficiency 8

PMID:2825199 PMID:14615364 PMID:18836449 PMID:22515636 PMID:22623405 More...

NCBI chr 6:17,867,491...17,870,108
Ensembl chr 6:17,867,488...17,870,197

G

methylmalonyl-CoA epimerase

ClinVar Annotator: match by term: Immunodeficiency 8

PMID:17823972 PMID:25073507 PMID:28492532

NCBI chr 3:38,080,570...38,107,832
Ensembl chr 3:38,080,611...38,107,830

G

major vault protein

ClinVar Annotator: match by term: Immunodeficiency 8

PMID:2825199 PMID:14615364 PMID:18836449 PMID:22515636 PMID:22623405 More...

NCBI chr 6:17,879,687...17,903,184
Ensembl chr 6:17,873,521...17,903,184

G

PAXIP1 associated glutamate rich protein 1

ClinVar Annotator: match by term: Immunodeficiency 8

PMID:2825199 PMID:14615364 PMID:18836449 PMID:22515636 PMID:22623405 More...

NCBI chr 6:17,876,740...17,879,546

G

protein phosphatase 4 catalytic subunit

ClinVar Annotator: match by term: Immunodeficiency 8

PMID:2825199 PMID:14615364 PMID:18836449 PMID:22515636 PMID:22623405 More...

NCBI chr 6:18,085,048...18,092,861
Ensembl chr 6:18,085,116...18,092,854

G

proline rich transmembrane protein 2

ClinVar Annotator: match by term: Immunodeficiency 8

PMID:2825199 PMID:14615364 PMID:18836449 PMID:22515636 PMID:22623405 More...

NCBI chr 6:17,872,670...17,877,502
Ensembl chr 6:17,873,521...17,903,184

G

ras homolog family member H

ClinVar Annotator: match by term: T-cell immunodeficiency with epidermodysplasia verruciformis

PMID:25741868 PMID:28492532

NCBI chr 3:72,272,446...72,277,015
Ensembl chr 3:72,276,418...72,276,993

G

seizure related 6 homolog like 2

ClinVar Annotator: match by term: Immunodeficiency 8

PMID:2825199 PMID:14615364 PMID:18836449 PMID:22515636 PMID:22623405 More...

NCBI chr 6:17,920,413...17,938,382
Ensembl chr 6:17,921,311...17,945,738

G

SLX1 homolog A, structure-specific endonuclease subunit

ClinVar Annotator: match by term: IMMUNODEFICIENCY 8 WITH LYMPHOPROLIFERATION

NCBI chr 6:18,171,190...18,174,577

G

TAO kinase 2

ClinVar Annotator: match by term: Immunodeficiency 8

PMID:2825199 PMID:14615364 PMID:18836449 PMID:22515636 PMID:22623405 More...

NCBI chr 6:18,014,685...18,029,188
Ensembl chr 6:18,000,138...18,029,185

G

T-box transcription factor 6

ClinVar Annotator: match by term: Immunodeficiency 8

PMID:2825199 PMID:14615364 PMID:18836449 PMID:22515636 PMID:22623405 More...

NCBI chr 6:18,093,201...18,098,592
Ensembl chr 6:18,093,189...18,097,636

G

TLC domain containing 3B

ClinVar Annotator: match by term: Immunodeficiency 8

PMID:2825199 PMID:14615364 PMID:18836449 PMID:22515636 PMID:22623405 More...

NCBI chr 6:18,053,841...18,062,755
Ensembl chr 6:18,054,632...18,055,914

G

transmembrane protein 219

ClinVar Annotator: match by term: Immunodeficiency 8

PMID:2825199 PMID:14615364 PMID:18836449 PMID:22515636 PMID:22623405 More...

NCBI chr 6:17,959,490...18,014,813
Ensembl chr 6:18,000,138...18,029,185

G

yippee like 3

ClinVar Annotator: match by term: Immunodeficiency 8

PMID:2825199 PMID:14615364 PMID:18836449 PMID:22515636 PMID:22623405 More...

NCBI chr 6:18,098,761...18,102,062
Ensembl chr 6:18,098,788...18,102,068

DNA ligase IV deficiency

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

DNA ligase 4

ClinVar Annotator: match by term: DNA ligase IV deficiency | ClinVar Annotator: match by term: LIG4-Related Disorders | ClinVar Annotator: match by term: LIG4-related disorder

PMID:1779494 PMID:2489227 PMID:2523926 PMID:5333585 PMID:7063650 More...

NCBI chr22:56,980,333...56,987,636
Ensembl chr22:56,980,622...56,983,357

ectodermal dysplasia and immunodeficiency 1

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

glucose-6-phosphate dehydrogenase

ClinVar Annotator: match by term: Hyper-IgM immunodeficiency, X-linked, with hypohidrotic ectodermal dysplasia

NCBI chr X:122,217,317...122,231,862
Ensembl chr X:122,205,683...122,231,678

G

inhibitor of nuclear factor kappa B kinase regulatory subunit gamma

ClinVar Annotator: match by term: Ectodermal dysplasia and immunodeficiency 1 | ClinVar Annotator: match by term: Hyper-IgM immunodeficiency, X-linked, with hypohidrotic ectodermal dysplasia

PMID:117248 PMID:8169255 PMID:11047757 PMID:11179023 PMID:11224521 More...

NCBI chr X:122,232,052...122,253,499
Ensembl chr X:122,235,878...122,250,562

immunodeficiency 10

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

stromal interaction molecule 1

ClinVar Annotator: match by term: Combined immunodeficiency due to STIM1 deficiency | ClinVar Annotator: match by term: IMMUNODEFICIENCY 10

PMID:9536098 PMID:17576681 PMID:19420366 PMID:20876309 PMID:21427704 More...

NCBI chr21:26,394,592...26,594,764
Ensembl chr21:26,394,811...26,593,375

Immunodeficiency 104

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

CD3 delta subunit of T-cell receptor complex

ClinVar Annotator: match by term: Immunodeficiency 104

PMID:25741868 PMID:28492532

NCBI chr 5:15,392,841...15,396,745
Ensembl chr 5:15,389,243...15,396,750

G

interleukin 7 receptor

ClinVar Annotator: match by term: IL7R-related condition | ClinVar Annotator: match by term: IMMUNODEFICIENCY 104, SEVERE COMBINED | ClinVar Annotator: match by term: Immunodeficiency 104

PMID:9536098 PMID:9843216 PMID:10899029 PMID:11023514 PMID:15615257 More...

NCBI chr 4:72,633,528...72,668,242
Ensembl chr 4:72,636,325...72,668,300

G

protein tyrosine phosphatase receptor type C

ClinVar Annotator: match by term: IMMUNODEFICIENCY 104, SEVERE COMBINED | ClinVar Annotator: match by term: Immunodeficiency 104

PMID:7621884 PMID:9536098 PMID:10700239 PMID:11101853 PMID:11528386 More...

NCBI chr 7:4,155,876...4,282,151
Ensembl chr 7:4,137,728...4,282,124

G

recombination activating 1

ClinVar Annotator: match by term: Immunodeficiency 104

PMID:24033266 PMID:25741868 PMID:28492532

NCBI chr18:31,628,231...31,639,980
Ensembl chr18:31,630,737...31,641,660

G

recombination activating 2

ClinVar Annotator: match by term: Immunodeficiency 104

PMID:20603253 PMID:21131235 PMID:24481607 PMID:25741868 PMID:26476733 More...

NCBI chr18:31,614,143...31,621,489
Ensembl chr18:31,618,481...31,620,064

Immunodeficiency 105

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

protein tyrosine phosphatase receptor type C

ClinVar Annotator: match by term: Immunodeficiency 105 | ClinVar Annotator: match by term: Immunodeficiency 105, severe combined

PMID:7621884 PMID:9068311 PMID:10700239 PMID:11101853 PMID:11145714 More...

NCBI chr 7:4,155,876...4,282,151
Ensembl chr 7:4,137,728...4,282,124

immunodeficiency 11A

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

archaelysin family metallopeptidase 1

ClinVar Annotator: match by term: Severe combined immunodeficiency due to CARD11 deficiency

PMID:23374270 PMID:23561803 PMID:26289640 PMID:28492532 PMID:32581362

NCBI chr 6:14,483,001...14,509,346
Ensembl chr 6:14,485,541...14,500,339

G

BRCA1 associated ATM activator 1

ClinVar Annotator: match by term: Severe combined immunodeficiency due to CARD11 deficiency

PMID:23374270 PMID:23561803 PMID:26289640 PMID:28492532 PMID:32581362

G

caspase recruitment domain family member 11

ClinVar Annotator: match by term: Immunodeficiency 11 | ClinVar Annotator: match by term: Severe combined immunodeficiency due to CARD11 deficiency

PMID:9536098 PMID:16199547 PMID:17576681 PMID:18323416 PMID:23027925 More...

NCBI chr 6:14,273,115...14,331,029
Ensembl chr 6:14,210,114...14,332,094

G

G protein subunit alpha 12

ClinVar Annotator: match by term: Severe combined immunodeficiency due to CARD11 deficiency

PMID:23374270 PMID:23561803 PMID:26289640 PMID:28492532 PMID:32581362

NCBI chr 6:14,375,144...14,476,018
Ensembl chr 6:14,413,576...14,473,764

G

IQ motif containing E

ClinVar Annotator: match by term: Severe combined immunodeficiency due to CARD11 deficiency

PMID:23374270 PMID:23561803 PMID:26289640 PMID:28492532 PMID:32581362

NCBI chr 6:14,538,693...14,579,095
Ensembl chr 6:14,532,181...14,577,435

G

LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase

ClinVar Annotator: match by term: Severe combined immunodeficiency due to CARD11 deficiency

PMID:23374270 PMID:23561803 PMID:26289640 PMID:28492532 PMID:32581362

NCBI chr 6:14,631,638...14,640,147
Ensembl chr 6:14,632,691...14,635,485

G

tweety family member 3

ClinVar Annotator: match by term: Severe combined immunodeficiency due to CARD11 deficiency

PMID:23374270 PMID:23561803 PMID:26289640 PMID:28492532 PMID:32581362

NCBI chr 6:14,595,357...14,625,417
Ensembl chr 6:14,595,091...14,623,416

immunodeficiency 12

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

alpha kinase 2

ClinVar Annotator: match by term: Combined immunodeficiency due to MALT1 deficiency

NCBI chr 1:17,421,673...17,563,732
Ensembl chr 1:17,445,543...17,583,600

G

ATPase phospholipid transporting 8B1

ClinVar Annotator: match by term: Combined immunodeficiency due to MALT1 deficiency

NCBI chr 1:18,156,664...18,279,131
Ensembl chr 1:18,156,410...18,277,904

G

collagen and calcium binding EGF domains 1

ClinVar Annotator: match by term: Combined immunodeficiency due to MALT1 deficiency

NCBI chr 1:16,597,389...16,819,888
Ensembl chr 1:16,597,334...16,819,894

G

complexin 4

ClinVar Annotator: match by term: Combined immunodeficiency due to MALT1 deficiency

NCBI chr 1:16,900,078...16,922,914
Ensembl chr 1:16,900,826...16,922,140

G

ferrochelatase

ClinVar Annotator: match by term: Combined immunodeficiency due to MALT1 deficiency

NCBI chr 1:18,352,184...18,384,251
Ensembl chr 1:18,345,811...18,383,092

G

gastrin releasing peptide

ClinVar Annotator: match by term: Combined immunodeficiency due to MALT1 deficiency

NCBI chr 1:16,974,818...16,987,578
Ensembl chr 1:16,975,113...16,987,531

G

lectin, mannose binding 1

ClinVar Annotator: match by term: Combined immunodeficiency due to MALT1 deficiency

NCBI chr 1:16,869,106...16,897,911
Ensembl chr 1:16,869,121...16,894,786

G

MALT1 paracaspase

ClinVar Annotator: match by term: Combined immunodeficiency due to MALT1 deficiency | ClinVar Annotator: match by term: Immunodeficiency 12

PMID:9536098 PMID:16199547 PMID:17576681 PMID:19763152 PMID:20307669 More...

NCBI chr 1:17,351,458...17,412,591
Ensembl chr 1:17,354,926...17,403,927

G

melanocortin 4 receptor

ClinVar Annotator: match by term: Combined immunodeficiency due to MALT1 deficiency

NCBI chr 1:16,131,829...16,132,827
Ensembl chr 1:16,131,589...16,133,079

G

microRNA mir-122

ClinVar Annotator: match by term: Combined immunodeficiency due to MALT1 deficiency

NCBI chr 1:17,593,858...17,593,915
Ensembl chr 1:17,593,837...17,593,929

G

asparaginyl-tRNA synthetase 1

ClinVar Annotator: match by term: Combined immunodeficiency due to MALT1 deficiency

NCBI chr 1:18,320,941...18,338,185
Ensembl chr 1:18,321,021...18,337,430

G

NEDD4 like E3 ubiquitin protein ligase

ClinVar Annotator: match by term: Combined immunodeficiency due to MALT1 deficiency

NCBI chr 1:17,629,163...17,858,471
Ensembl chr 1:17,633,591...17,950,072

G

phorbol-12-myristate-13-acetate-induced protein 1

ClinVar Annotator: match by term: Combined immunodeficiency due to MALT1 deficiency

NCBI chr 1:16,469,793...16,472,910
Ensembl chr 1:16,469,793...16,472,910

G

retina and anterior neural fold homeobox

ClinVar Annotator: match by term: Combined immunodeficiency due to MALT1 deficiency

NCBI chr 1:16,940,671...16,945,127
Ensembl chr 1:16,940,658...16,943,633

G

SEC11 homolog C, signal peptidase complex subunit

ClinVar Annotator: match by term: Combined immunodeficiency due to MALT1 deficiency

NCBI chr 1:17,020,606...17,036,149
Ensembl chr 1:17,020,493...17,036,187

G

zinc finger protein 532

ClinVar Annotator: match by term: Combined immunodeficiency due to MALT1 deficiency

NCBI chr 1:17,152,676...17,256,895
Ensembl chr 1:17,154,193...17,257,227

immunodeficiency 14

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

angiopoietin like 7

ClinVar Annotator: match by term: Immunodeficiency 14

NCBI chr 2:84,876,881...84,883,582
Ensembl chr 2:84,877,682...84,883,160

G

castor zinc finger 1

ClinVar Annotator: match by term: Immunodeficiency 14

NCBI chr 2:85,194,640...85,218,068
Ensembl chr 2:85,176,161...85,232,920

G

centromere protein S

ClinVar Annotator: match by term: Immunodeficiency 14

NCBI chr 2:85,379,378...85,389,175

G

DNA fragmentation factor subunit alpha

ClinVar Annotator: match by term: Immunodeficiency 14

NCBI chr 2:85,364,819...85,372,473
Ensembl chr 2:85,364,851...85,373,772

G

exosome component 10

ClinVar Annotator: match by term: Immunodeficiency 14

NCBI chr 2:84,942,801...84,964,129
Ensembl chr 2:84,942,777...84,964,130

G

glucose-6-phosphate dehydrogenase

ClinVar Annotator: match by term: IMMUNODEFICIENCY 14A WITH LYMPHOPROLIFERATION, AUTOSOMAL DOMINANT

PMID:5448 PMID:1303173 PMID:1924316 PMID:2572288 PMID:2836867 More...

NCBI chr X:122,217,317...122,231,862
Ensembl chr X:122,205,683...122,231,678

G

kinesin family member 1B

ClinVar Annotator: match by term: Immunodeficiency 14

NCBI chr 5:63,367,294...63,516,388
Ensembl chr 5:63,376,820...63,513,476

G

beta-catenin-interacting protein 1

ClinVar Annotator: match by term: Immunodeficiency 14

NCBI chr 5:62,937,154...63,093,083
Ensembl chr 5:62,938,511...63,093,275

G

leucine zipper and CTNNBIP1 domain containing

ClinVar Annotator: match by term: Immunodeficiency 14

NCBI chr 5:63,110,854...63,122,488
Ensembl chr 5:63,113,191...63,122,750

G

MBL associated serine protease 2

ClinVar Annotator: match by term: Immunodeficiency 14

NCBI chr 2:84,976,366...84,987,376
Ensembl chr 2:84,976,456...84,989,797

G

mechanistic target of rapamycin kinase

ClinVar Annotator: match by term: Immunodeficiency 14

NCBI chr 2:84,818,893...84,939,283
Ensembl chr 2:84,787,708...84,939,114

G

nicotinamide nucleotide adenylyltransferase 1

ClinVar Annotator: match by term: Immunodeficiency 14

NCBI chr 5:63,122,379...63,152,078
Ensembl chr 5:63,122,498...63,151,661

G

peroxisomal biogenesis factor 14

ClinVar Annotator: match by term: Immunodeficiency 14

NCBI chr 2:85,224,376...85,362,684
Ensembl chr 2:85,224,365...85,389,069

G

phosphogluconate dehydrogenase

ClinVar Annotator: match by term: Immunodeficiency 14

NCBI chr 2:85,393,526...85,408,714
Ensembl chr 2:85,393,819...85,408,272

G

phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta

ClinVar Annotator: match by term: Activated PI3K-delta syndrome | ClinVar Annotator: match by term: IMMUNODEFICIENCY 14A WITH LYMPHOPROLIFERATION, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: Immunodeficiency 14 | ClinVar Annotator: match by term: Immunodeficiency 14b, autosomal recessive | ClinVar Annotator: match by term: p110-DELTA-ACTIVATING MUTATION CAUSING SENESCENT T CELLS, LYMPHADENOPATHY, AND IMMUNODEFICIENCY

PMID:9536098 PMID:16199547 PMID:16984281 PMID:17576681 PMID:24136356 More...

NCBI chr 5:62,884,596...62,936,882
Ensembl chr 5:62,909,009...62,935,971

G

retinol binding protein 7

ClinVar Annotator: match by term: Immunodeficiency 14

NCBI chr 5:63,163,201...63,180,338
Ensembl chr 5:63,162,523...63,180,331

G

spermidine synthase

ClinVar Annotator: match by term: Immunodeficiency 14

NCBI chr 2:84,968,833...84,973,111
Ensembl chr 2:84,967,570...84,973,087

G

TAR DNA binding protein

ClinVar Annotator: match by term: Immunodeficiency 14

NCBI chr 2:84,987,752...84,998,136
Ensembl chr 2:84,989,952...84,998,593

G

ubiquitination factor E4B

ClinVar Annotator: match by term: Immunodeficiency 14

NCBI chr 5:63,214,846...63,339,218
Ensembl chr 5:63,215,470...63,338,215

immunodeficiency 15A

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

inhibitor of nuclear factor kappa B kinase subunit beta

ClinVar Annotator: match by term: Immunodeficiency 15a

PMID:24033266 PMID:25741868 PMID:28492532 PMID:30337470

NCBI chr16:23,359,551...23,419,114
Ensembl chr16:23,359,813...23,419,075

immunodeficiency 15B

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ankyrin 1

ClinVar Annotator: match by term: IMMUNODEFICIENCY 15B

NCBI chr16:23,858,299...23,966,181
Ensembl chr16:23,766,193...23,964,226

G

adaptor related protein complex 3 subunit mu 2

ClinVar Annotator: match by term: IMMUNODEFICIENCY 15B

NCBI chr16:23,500,988...23,518,193
Ensembl chr16:23,454,325...23,518,193

G

cholinergic receptor nicotinic alpha 6 subunit

ClinVar Annotator: match by term: IMMUNODEFICIENCY 15B

NCBI chr16:22,990,377...23,009,257
Ensembl chr16:22,990,167...23,009,106

G

cholinergic receptor nicotinic beta 3 subunit

ClinVar Annotator: match by term: IMMUNODEFICIENCY 15B

NCBI chr16:23,021,652...23,040,907
Ensembl chr16:23,021,645...23,048,347

G

dickkopf WNT signaling pathway inhibitor 4

ClinVar Annotator: match by term: IMMUNODEFICIENCY 15B

NCBI chr16:23,302,124...23,304,824
Ensembl chr16:23,302,320...23,304,834

G

farnesyltransferase, CAAX box, subunit alpha

ClinVar Annotator: match by term: IMMUNODEFICIENCY 15B

NCBI chr16:22,739,070...22,767,942
Ensembl chr16:22,739,079...22,767,914

G

heparan-alpha-glucosaminide N-acetyltransferase

ClinVar Annotator: match by term: IMMUNODEFICIENCY 15B

NCBI chr16:22,640,912...22,683,733
Ensembl chr16:22,642,289...22,683,879

G

hook microtubule tethering protein 3

ClinVar Annotator: match by term: IMMUNODEFICIENCY 15B

NCBI chr16:22,791,198...22,940,168
Ensembl chr16:22,784,267...22,901,991

G

inhibitor of nuclear factor kappa B kinase subunit beta

ClinVar Annotator: match by term: IMMUNODEFICIENCY 15B

PMID:9536098 PMID:10195897 PMID:16199547 PMID:17576681 PMID:24033266 More...

NCBI chr16:23,359,551...23,419,114
Ensembl chr16:23,359,813...23,419,075

G

lysine acetyltransferase 6A

ClinVar Annotator: match by term: IMMUNODEFICIENCY 15B

NCBI chr16:23,604,629...23,717,047
Ensembl chr16:23,604,200...23,724,252

G

plasminogen activator, tissue type

ClinVar Annotator: match by term: IMMUNODEFICIENCY 15B

NCBI chr16:23,469,590...23,496,013

G

DNA polymerase beta

ClinVar Annotator: match by term: IMMUNODEFICIENCY 15B

NCBI chr16:23,306,359...23,335,352
Ensembl chr16:23,306,367...23,335,322

G

protein O-mannose kinase

ClinVar Annotator: match by term: IMMUNODEFICIENCY 15B

NCBI chr16:22,699,552...22,722,773
Ensembl chr16:22,701,736...22,719,229

G

ring finger protein 170

ClinVar Annotator: match by term: IMMUNODEFICIENCY 15B

NCBI chr16:22,901,224...22,929,990
Ensembl chr16:22,900,313...22,927,125

G

solute carrier family 20 member 2

ClinVar Annotator: match by term: IMMUNODEFICIENCY 15B

NCBI chr16:23,165,347...23,268,115
Ensembl chr16:23,200,798...23,267,775

G

small integral membrane protein 19

ClinVar Annotator: match by term: IMMUNODEFICIENCY 15B

NCBI chr16:23,152,852...23,165,554
Ensembl chr16:23,153,968...23,165,771

G

THAP domain containing 1

ClinVar Annotator: match by term: IMMUNODEFICIENCY 15B

NCBI chr16:22,940,257...22,951,453
Ensembl chr16:22,940,216...22,948,582

G

voltage dependent anion channel 3

ClinVar Annotator: match by term: IMMUNODEFICIENCY 15B

NCBI chr16:23,276,763...23,289,752
Ensembl chr16:23,276,767...23,289,752

immunodeficiency 16

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ArfGAP with coiled-coil, ankyrin repeat and PH domains 3

ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency

PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More...

NCBI chr 5:56,466,833...56,482,023
Ensembl chr 5:56,468,164...56,481,913

G

actin related protein T2

ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency

PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More...

NCBI chr 5:57,659,055...57,660,479
Ensembl chr 5:57,659,262...57,660,395

G

agrin

ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency

PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More...

NCBI chr 5:56,239,621...56,273,679
Ensembl chr 5:56,239,701...56,272,745

G

ankyrin repeat domain 65

ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency

PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More...

NCBI chr 5:56,564,686...56,568,194
Ensembl chr 5:56,565,514...56,567,376

G

Rho guanine nucleotide exchange factor 16

ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency

PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More...

NCBI chr 5:58,031,246...58,051,936
Ensembl chr 5:58,030,459...58,051,936

G

ATPase family AAA domain containing 3A

ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency

PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More...

NCBI chr 5:56,587,385...56,613,475
Ensembl chr 5:56,587,428...56,612,746

G

aurora kinase A interacting protein 1

ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency

PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More...

NCBI chr 5:56,539,987...56,541,578
Ensembl chr 5:56,539,991...56,541,388

G

beta-1,3-galactosyltransferase 6

ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency

PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More...

NCBI chr 5:56,421,687...56,423,120
Ensembl chr 5:56,405,372...56,422,771

G

C1q and TNF related 12

ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency

PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More...

NCBI chr 5:56,433,555...56,438,419
Ensembl chr 5:56,433,552...56,438,339

G

chromosome 5 C1orf159 homolog

ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency

PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More...

NCBI chr 5:56,296,633...56,330,358
Ensembl chr 5:56,297,635...56,307,616

G

calmodulin like 6

ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency

PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More...

NCBI chr 5:56,901,401...56,904,422
Ensembl chr 5:56,901,715...56,904,424

G

coiled-coil domain containing 27

ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency

PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More...

NCBI chr 5:58,266,091...58,280,997
Ensembl chr 5:58,269,308...58,279,829

G

cyclin L2

ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency

PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More...

NCBI chr 5:56,542,358...56,550,701
Ensembl chr 5:56,542,566...56,550,691

G

cyclin dependent kinase 11

ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency

PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More...

NCBI chr 5:56,698,267...56,714,075

G

centrosomal protein 104

ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency

PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More...

NCBI chr 5:58,301,767...58,339,920
Ensembl chr 5:58,305,589...58,335,438

G

cilia and flagella associated protein 74

ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency

PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More...

NCBI chr 5:56,909,092...56,970,980
Ensembl chr 5:56,909,486...56,961,903

G

ceramide-1-phosphate transfer protein

ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency

PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More...

NCBI chr 5:56,498,163...56,501,918
Ensembl chr 5:56,498,207...56,500,845

G

dishevelled segment polarity protein 1

ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency

PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More...

NCBI chr 5:56,507,803...56,519,382
Ensembl chr 5:56,507,739...56,519,491

G

FA core complex associated protein 20

ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency

PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More...

NCBI chr 5:57,114,784...57,122,854

G

fibronectin type III domain containing 10

ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency

PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More...

NCBI chr 5:56,660,721...56,662,696

G

gamma-aminobutyric acid type A receptor subunit delta

ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency

PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More...

NCBI chr 5:56,984,786...56,994,790
Ensembl chr 5:56,984,913...56,994,358

G

G protein subunit beta 1

ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency

PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More...

NCBI chr 5:56,777,854...56,879,619
Ensembl chr 5:56,779,354...56,817,295

G

hes family bHLH transcription factor 4

ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency

PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More...

NCBI chr 5:56,221,509...56,226,938
Ensembl chr 5:56,225,497...56,226,772

G

hes family bHLH transcription factor 5

ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency

PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More...

NCBI chr 5:57,387,961...57,389,412
Ensembl chr 5:57,388,674...57,389,388

G

integrator complex subunit 11

ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency

PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More...

NCBI chr 5:56,485,690...56,498,074
Ensembl chr 5:56,485,948...56,498,017

G

ISG15 ubiquitin like modifier

ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency

PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More...

NCBI chr 5:56,230,879...56,237,354
Ensembl chr 5:56,236,318...56,404,695

G

kelch like family member 17

ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency

PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More...

NCBI chr 5:56,186,077...56,193,671
Ensembl chr 5:56,187,922...56,192,983

G

leucine rich repeat containing 47

ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency

PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More...

NCBI chr 5:58,286,909...58,297,961
Ensembl chr 5:58,288,392...58,297,996

G

multiple EGF like domains 6

ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency

PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More...

NCBI chr 5:58,058,833...58,145,855
Ensembl chr 5:58,059,031...58,146,193

G

MIB E3 ubiquitin protein ligase 2

ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency

PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More...

NCBI chr 5:56,680,526...56,693,551
Ensembl chr 5:56,581,550...56,693,544

G

microRNA mir-200a

ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency

PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More...

NCBI chr 5:56,369,063...56,369,152
Ensembl chr 5:56,369,061...56,369,151

G

microRNA mir-200b

ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency

PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More...

NCBI chr 5:56,368,400...56,368,479
Ensembl chr 5:56,368,400...56,368,479

G

membrane metalloendopeptidase like 1

ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency

PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More...

NCBI chr 5:57,434,880...57,467,973
Ensembl chr 5:57,434,886...57,465,911

G

matrix metallopeptidase 23

ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency

PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More...

NCBI chr 5:56,693,751...56,697,284
Ensembl chr 5:56,694,966...56,697,284

G

MORN repeat containing 1

ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency

PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More...

NCBI chr 5:57,227,265...57,275,292
Ensembl chr 5:57,227,315...57,277,669

G

mitochondrial ribosomal protein L20

ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency

PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More...

NCBI chr 5:56,553,326...56,558,182
Ensembl chr 5:56,553,331...56,558,136

G

matrix remodeling associated 8

ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency

PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More...

NCBI chr 5:56,522,283...56,526,750
Ensembl chr 5:56,522,470...56,526,668

G

NAD kinase

ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency

PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More...

NCBI chr 5:56,743,920...56,774,578
Ensembl chr 5:56,745,869...56,774,529

G

NOC2 like nucleolar associated transcriptional repressor

ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency

PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More...

NCBI chr 5:56,172,399...56,185,993
Ensembl chr 5:56,172,446...56,185,932

G

pantothenate kinase 4 (inactive)

ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency

PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More...

NCBI chr 5:57,370,624...57,386,095
Ensembl chr 5:57,370,946...57,386,089

G

peroxisomal biogenesis factor 10

ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency

PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More...

NCBI chr 5:57,289,530...57,291,864
Ensembl chr 5:57,289,326...57,291,802

G

phospholipase C eta 2

ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency

PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More...

NCBI chr 5:57,303,160...57,368,568
Ensembl chr 5:57,302,996...57,371,468

G

pleckstrin homology domain containing N1

ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency

PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More...

NCBI chr 5:56,193,824...56,202,340
Ensembl chr 5:56,194,583...56,202,293

G

PR/SET domain 16

ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency

PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More...

NCBI chr 5:57,805,951...58,018,817
Ensembl chr 5:57,730,370...58,017,976

G

protein kinase C zeta

ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency

PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More...

NCBI chr 5:57,012,020...57,113,346
Ensembl chr 5:57,012,070...57,112,664

G

peroxiredoxin like 2B

ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency

PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More...

NCBI chr 5:57,429,973...57,434,371
Ensembl chr 5:57,429,212...57,434,210

G

pseudouridine synthase like 1

ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency

PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More...

NCBI chr 5:56,482,802...56,485,778
Ensembl chr 5:56,482,363...56,485,783

G

retention in endoplasmic reticulum sorting receptor 1

ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency

PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More...

NCBI chr 5:57,278,349...57,288,564
Ensembl chr 5:57,278,371...57,285,870

G

ring finger protein 223

ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency

PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More...

NCBI chr 5:56,290,548...56,293,473

G

sterile alpha motif domain containing 11

ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency

PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More...

NCBI chr 5:56,119,207...56,175,267
Ensembl chr 5:56,151,171...56,172,055

G

sodium channel epithelial 1 subunit delta

ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency

PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More...

NCBI chr 5:56,455,677...56,466,035
Ensembl chr 5:56,461,939...56,465,595

G

stromal cell derived factor 4

ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency

PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More...

NCBI chr 5:56,407,506...56,421,515
Ensembl chr 5:56,407,807...56,421,430

G

SKI proto-oncogene

ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency

PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More...

NCBI chr 5:57,144,178...57,216,385
Ensembl chr 5:57,145,825...57,214,403

G

solute carrier family 35 member E2

ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency

PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More...

NCBI chr 5:56,715,798...56,739,464
Ensembl chr 5:56,718,550...56,738,420

G

small integral membrane protein 1

ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency

PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More...

NCBI chr 5:58,281,962...58,285,071
Ensembl chr 5:58,282,347...58,284,616

G

SSU72 homolog, RNA polymerase II CTD phosphatase

ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency

PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More...

NCBI chr 5:56,620,803...56,650,131
Ensembl chr 5:56,620,805...56,650,131

G

taste 1 receptor member 3

ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency

PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More...

NCBI chr 5:56,503,720...56,506,883
Ensembl chr 5:56,503,720...56,506,898

G

transmembrane protein 240

ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency

PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More...

NCBI chr 5:56,613,561...56,619,693
Ensembl chr 5:56,614,201...56,619,693

G

transmembrane protein 52

ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency

PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More...

NCBI chr 5:56,900,297...56,906,565
Ensembl chr 5:56,901,674...56,906,500

G

transmembrane protein 88B

ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency

PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More...

NCBI chr 5:56,569,512...56,573,353
Ensembl chr 5:56,569,814...56,571,310

G

TNF receptor superfamily member 14

ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency

PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More...

NCBI chr 5:57,386,190...57,416,864
Ensembl chr 5:57,411,529...57,416,512

G

TNF receptor superfamily member 18

ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency

PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More...

NCBI chr 5:56,394,559...56,397,502
Ensembl chr 5:56,394,659...56,397,741

G

TNF receptor superfamily member 4

ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency | ClinVar Annotator: match by term: Immunodeficiency 16

PMID:9536098 PMID:9683594 PMID:10862081 PMID:16199547 PMID:17576681 More...

NCBI chr 5:56,401,410...56,404,410
Ensembl chr 5:56,401,384...56,404,761

G

tumor protein p73

ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency

PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More...

NCBI chr 5:58,194,385...58,241,159
Ensembl chr 5:58,187,826...58,240,839

G

tumor protein p63 regulated 1 like

ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency

PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More...

NCBI chr 5:58,155,178...58,159,880
Ensembl chr 5:58,157,096...58,159,880

G

tetratricopeptide repeat domain 34

ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency

PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More...

NCBI chr 5:57,470,807...57,481,874
Ensembl chr 5:57,473,001...57,490,971

G

tubulin tyrosine ligase like 10

ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency

PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More...

NCBI chr 5:56,364,247...56,390,899
Ensembl chr 5:56,336,884...56,388,693

G

ubiquitin conjugating enzyme E2 J2

ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency

PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More...

NCBI chr 5:56,440,394...56,455,491
Ensembl chr 5:56,441,821...56,455,460

G

von Willebrand factor A domain containing 1

ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency

PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More...

NCBI chr 5:56,578,256...56,583,552
Ensembl chr 5:56,578,297...56,582,502

G

WD repeat containing, antisense to TP73

ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency

PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More...

NCBI chr 5:58,160,438...58,176,011
Ensembl chr 5:58,160,431...58,175,920

immunodeficiency 19

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ATP binding cassette subfamily G member 4

ClinVar Annotator: match by term: Immunodeficiency 19

NCBI chr 5:14,707,964...14,720,782
Ensembl chr 5:14,707,960...14,721,240

G

apolipoprotein A1

ClinVar Annotator: match by term: Immunodeficiency 19

NCBI chr 5:16,740,071...16,742,081
Ensembl chr 5:16,740,130...16,741,943

G

apolipoprotein A4

ClinVar Annotator: match by term: Immunodeficiency 19

NCBI chr 5:16,751,588...16,754,215
Ensembl chr 5:16,751,799...16,754,837

G

apolipoprotein C3

ClinVar Annotator: match by term: Immunodeficiency 19

NCBI chr 5:16,744,423...16,746,992
Ensembl chr 5:16,744,423...16,746,992

G

archain 1

ClinVar Annotator: match by term: Immunodeficiency 19

PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More...

NCBI chr 5:15,141,861...15,171,642
Ensembl chr 5:15,143,499...15,171,586

G

Rho guanine nucleotide exchange factor 12

ClinVar Annotator: match by term: Immunodeficiency 19

NCBI chr 5:13,519,094...13,669,154
Ensembl chr 5:13,522,896...13,669,155

G

ATP synthase membrane subunit g

ClinVar Annotator: match by term: Immunodeficiency 19

PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More...

NCBI chr 5:15,329,060...15,336,344

G

beta-secretase 1

ClinVar Annotator: match by term: Immunodeficiency 19

NCBI chr 5:16,308,953...16,319,100
Ensembl chr 5:16,308,944...16,319,100

G

BCL9 like

ClinVar Annotator: match by term: Immunodeficiency 19

PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More...

NCBI chr 5:14,893,548...14,919,121
Ensembl chr 5:14,900,208...14,919,193

G

C1q and TNF related 5

ClinVar Annotator: match by term: Immunodeficiency 19

NCBI chr 5:14,561,115...14,563,277
Ensembl chr 5:14,562,350...14,563,309

G

C2CD2 like

ClinVar Annotator: match by term: Immunodeficiency 19

NCBI chr 5:14,746,613...14,755,952
Ensembl chr 5:14,747,208...14,755,925

G

Cbl proto-oncogene

ClinVar Annotator: match by term: Immunodeficiency 19

NCBI chr 5:14,600,409...14,676,974
Ensembl chr 5:14,607,013...14,676,956

G

CD3 delta subunit of T-cell receptor complex

ClinVar Annotator: match by term: Immunodeficiency 19

PMID:1635567 PMID:8490660 PMID:9536098 PMID:10935641 PMID:14602880 More...

NCBI chr 5:15,392,841...15,396,745
Ensembl chr 5:15,389,243...15,396,750

G

CD3 epsilon subunit of T-cell receptor complex

ClinVar Annotator: match by term: Immunodeficiency 19

PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More...

NCBI chr 5:15,403,724...15,415,259
Ensembl chr 5:15,403,710...15,415,260

G

CD3 gamma subunit of T-cell receptor complex

ClinVar Annotator: match by term: Immunodeficiency 19

PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More...

NCBI chr 5:15,379,788...15,391,271
Ensembl chr 5:15,380,633...15,391,214

G

centrosomal AT-AC splicing factor

ClinVar Annotator: match by term: Immunodeficiency 19

PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More...

NCBI chr 5:14,836,293...14,843,731
Ensembl chr 5:14,836,291...14,843,875

G

centrosomal protein 164

ClinVar Annotator: match by term: Immunodeficiency 19

NCBI chr 5:16,227,369...16,290,781
Ensembl chr 5:16,227,292...16,291,229

G

C-X-C motif chemokine receptor 5

ClinVar Annotator: match by term: Immunodeficiency 19

PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More...

NCBI chr 5:14,921,447...14,932,937
Ensembl chr 5:14,923,089...14,932,762

G

DEAD-box helicase 6

ClinVar Annotator: match by term: Immunodeficiency 19

PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More...

NCBI chr 5:15,001,988...15,034,128
Ensembl chr 5:15,002,246...15,032,348

G

dolichyl-phosphate N-acetylglucosaminephosphotransferase 1

ClinVar Annotator: match by term: Immunodeficiency 19

PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More...

NCBI chr 5:14,760,518...14,765,306
Ensembl chr 5:14,760,784...14,764,967

G

dynein regulatory complex subunit 12 homolog

ClinVar Annotator: match by term: Immunodeficiency 19

NCBI chr 5:14,679,180...14,686,446
Ensembl chr 5:14,682,004...14,686,150

G

DS cell adhesion molecule like 1

ClinVar Annotator: match by term: Immunodeficiency 19

NCBI chr 5:15,839,504...16,187,465
Ensembl chr 5:15,826,726...16,186,880

G

forkhead box R1

ClinVar Annotator: match by term: Immunodeficiency 19

PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More...

NCBI chr 5:14,852,381...14,861,364
Ensembl chr 5:14,852,205...14,861,728

G

FXYD domain containing ion transport regulator 2

ClinVar Annotator: match by term: Immunodeficiency 19

NCBI chr 5:15,812,335...15,824,552
Ensembl chr 5:15,815,969...15,823,057

G

FXYD domain containing ion transport regulator 6

ClinVar Annotator: match by term: Immunodeficiency 19

NCBI chr 5:15,801,790...15,807,601
Ensembl chr 5:15,771,390...15,807,601

G

glutamate ionotropic receptor kainate type subunit 4

ClinVar Annotator: match by term: Immunodeficiency 19

NCBI chr 5:13,075,323...13,453,458
Ensembl chr 5:13,073,968...13,370,034

G

H2A.X variant histone

ClinVar Annotator: match by term: Immunodeficiency 19

PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More...

NCBI chr 5:14,765,625...14,766,590
Ensembl chr 5:14,766,126...14,766,557

G

histone H4 transcription factor

ClinVar Annotator: match by term: Immunodeficiency 19

NCBI chr 5:14,731,592...14,742,893
Ensembl chr 5:14,731,588...14,742,559

G

hydroxymethylbilane synthase

ClinVar Annotator: match by term: Immunodeficiency 19

PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More...

NCBI chr 5:14,767,306...14,775,205
Ensembl chr 5:14,767,666...14,775,082

G

hypoxia up-regulated 1

ClinVar Annotator: match by term: Immunodeficiency 19

PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More...

NCBI chr 5:14,795,750...14,808,203
Ensembl chr 5:14,795,750...14,807,262

G

intraflagellar transport 46

ClinVar Annotator: match by term: Immunodeficiency 19

PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More...

NCBI chr 5:15,179,287...15,197,737
Ensembl chr 5:15,170,854...15,197,736

G

interleukin 10 receptor subunit alpha

ClinVar Annotator: match by term: Immunodeficiency 19

PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More...

NCBI chr 5:15,675,775...15,688,935
Ensembl chr 5:15,677,547...15,682,163

G

junction adhesion molecule like

ClinVar Annotator: match by term: Immunodeficiency 19

PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More...

NCBI chr 5:15,485,378...15,513,457
Ensembl chr 5:15,476,582...15,513,075

G

lysine methyltransferase 2A

ClinVar Annotator: match by term: Immunodeficiency 19

PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More...

NCBI chr 5:15,212,559...15,302,825
Ensembl chr 5:15,217,348...15,270,971

G

melanoma cell adhesion molecule

ClinVar Annotator: match by term: Immunodeficiency 19

NCBI chr 5:14,590,252...14,598,901
Ensembl chr 5:14,567,238...14,598,149

G

membrane frizzled-related protein

ClinVar Annotator: match by term: Immunodeficiency 19

NCBI chr 5:14,555,619...14,561,577
Ensembl chr 5:14,556,065...14,561,623

G

myelin protein zero like 2

ClinVar Annotator: match by term: Immunodeficiency 19

PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More...

NCBI chr 5:15,446,803...15,458,667
Ensembl chr 5:15,447,104...15,458,515

G

myelin protein zero like 3

ClinVar Annotator: match by term: Immunodeficiency 19

PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More...

NCBI chr 5:15,460,147...15,485,274
Ensembl chr 5:15,460,211...15,484,202

G

nectin cell adhesion molecule 1

ClinVar Annotator: match by term: Immunodeficiency 19

NCBI chr 5:14,228,197...14,292,825
Ensembl chr 5:14,228,197...14,315,060

G

NHERF family PDZ scaffold protein 4

ClinVar Annotator: match by term: Immunodeficiency 19

NCBI chr 5:14,687,868...14,692,474
Ensembl chr 5:14,687,905...14,692,128

G

NLR family member X1

ClinVar Annotator: match by term: Immunodeficiency 19

NCBI chr 5:14,692,621...14,705,214
Ensembl chr 5:14,564,935...14,705,257

G

out at first homolog

ClinVar Annotator: match by term: Immunodeficiency 19

NCBI chr 5:13,771,208...13,798,387
Ensembl chr 5:13,771,659...13,783,190

G

platelet activating factor acetylhydrolase 1b catalytic subunit 2

ClinVar Annotator: match by term: Immunodeficiency 19

G

proprotein convertase subtilisin/kexin type 7

ClinVar Annotator: match by term: Immunodeficiency 19

NCBI chr 5:16,367,737...16,389,991
Ensembl chr 5:16,367,116...16,390,006

G

pleckstrin homology like domain family B member 1

ClinVar Annotator: match by term: Immunodeficiency 19

PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More...

NCBI chr 5:15,090,823...15,138,397
Ensembl chr 5:15,090,813...15,134,784

G

POU class 2 homeobox 3

ClinVar Annotator: match by term: Immunodeficiency 19

NCBI chr 5:13,693,686...13,761,295
Ensembl chr 5:13,688,959...13,761,847

G

ring finger protein 214

ClinVar Annotator: match by term: Immunodeficiency 19

NCBI chr 5:16,319,460...16,364,301
Ensembl chr 5:16,319,698...16,364,493

G

ring finger protein 26

ClinVar Annotator: match by term: Immunodeficiency 19

NCBI chr 5:14,564,949...14,567,756

G

ribosomal protein S25

ClinVar Annotator: match by term: Immunodeficiency 19

PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More...

NCBI chr 5:14,833,804...14,836,376
Ensembl chr 5:14,833,918...14,836,749

G

sterol-C5-desaturase

ClinVar Annotator: match by term: Immunodeficiency 19

NCBI chr 5:12,760,591...12,774,484
Ensembl chr 5:12,763,286...12,775,393

G

sodium voltage-gated channel beta subunit 2

ClinVar Annotator: match by term: Immunodeficiency 19

PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More...

NCBI chr 5:15,514,760...15,534,179
Ensembl chr 5:15,521,481...15,534,179

G

sodium voltage-gated channel beta subunit 4

ClinVar Annotator: match by term: Immunodeficiency 19

PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More...

NCBI chr 5:15,552,347...15,564,085
Ensembl chr 5:15,543,632...15,563,486

G

SID1 transmembrane family member 2

ClinVar Annotator: match by term: Immunodeficiency 19

NCBI chr 5:16,397,532...16,410,827
Ensembl chr 5:16,398,815...16,411,268

G

SIK family kinase 3

ClinVar Annotator: match by term: Immunodeficiency 19

NCBI chr 5:16,623,756...16,733,259
Ensembl chr 5:16,527,504...16,733,243

G

solute carrier family 37 member 4

ClinVar Annotator: match by term: Immunodeficiency 19

PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More...

NCBI chr 5:14,823,485...14,830,007
Ensembl chr 5:14,823,499...14,830,004

G

sortilin related receptor 1

ClinVar Annotator: match by term: Immunodeficiency 19

NCBI chr 5:12,493,750...12,650,530
Ensembl chr 5:12,431,377...12,650,784

G

transgelin

ClinVar Annotator: match by term: Immunodeficiency 19

NCBI chr 5:16,390,259...16,395,471
Ensembl chr 5:16,390,573...16,397,207

G

tubulin folding cofactor E like

ClinVar Annotator: match by term: Immunodeficiency 19

NCBI chr 5:12,963,356...13,035,525
Ensembl chr 5:12,964,523...13,035,613

G

tectorin alpha

ClinVar Annotator: match by term: Immunodeficiency 19

NCBI chr 5:12,879,963...12,949,211
Ensembl chr 5:12,879,951...12,949,147

G

Thy-1 cell surface antigen

ClinVar Annotator: match by term: Immunodeficiency 19

NCBI chr 5:14,503,902...14,509,113
Ensembl chr 5:14,503,902...14,509,113

G

TLC domain containing 5

ClinVar Annotator: match by term: Immunodeficiency 19

NCBI chr 5:13,673,059...13,681,139
Ensembl chr 5:13,675,878...13,681,287

G

transmembrane protein 25

ClinVar Annotator: match by term: Immunodeficiency 19

PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More...

NCBI chr 5:15,202,726...15,207,252
Ensembl chr 5:15,203,974...15,206,704

G

transmembrane serine protease 13

ClinVar Annotator: match by term: Immunodeficiency 19

NCBI chr 5:15,726,007...15,754,767
Ensembl chr 5:15,700,458...15,753,543

G

transmembrane serine protease 4

ClinVar Annotator: match by term: Immunodeficiency 19

PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More...

NCBI chr 5:15,575,068...15,609,819
Ensembl chr 5:15,575,338...15,610,190

G

trafficking protein particle complex subunit 4

ClinVar Annotator: match by term: Immunodeficiency 19

PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More...

NCBI chr 5:14,830,604...14,833,444
Ensembl chr 5:14,830,611...14,833,447

G

trehalase

ClinVar Annotator: match by term: Immunodeficiency 19

PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More...

NCBI chr 5:15,085,038...15,090,667
Ensembl chr 5:15,071,802...15,090,522

G

tripartite motif containing 29

ClinVar Annotator: match by term: Immunodeficiency 19

NCBI chr 5:13,853,514...13,880,517
Ensembl chr 5:13,853,553...13,880,073

G

tetratricopeptide repeat domain 36

ClinVar Annotator: match by term: Immunodeficiency 19

PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More...

NCBI chr 5:15,207,400...15,211,905
Ensembl chr 5:15,207,403...15,211,853

G

ubiquitination factor E4A

ClinVar Annotator: match by term: Immunodeficiency 19

PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More...

NCBI chr 5:15,338,279...15,375,722
Ensembl chr 5:15,341,141...15,370,294

G

uroplakin 2

ClinVar Annotator: match by term: Immunodeficiency 19

PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More...

NCBI chr 5:14,868,064...14,872,527
Ensembl chr 5:14,868,051...14,871,153

G

ubiquitin specific peptidase 2

ClinVar Annotator: match by term: Immunodeficiency 19

NCBI chr 5:14,525,685...14,550,914
Ensembl chr 5:14,525,797...14,549,291

G

VPS11 core subunit of CORVET and HOPS complexes

ClinVar Annotator: match by term: Immunodeficiency 19

PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More...

NCBI chr 5:14,776,975...14,786,736
Ensembl chr 5:14,776,976...14,786,692

immunodeficiency 22

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

LCK proto-oncogene, Src family tyrosine kinase

ClinVar Annotator: match by term: Severe combined immunodeficiency due to LCK deficiency

PMID:9536098 PMID:16199547 PMID:17576681 PMID:22985903 PMID:25741868 More...

NCBI chr 2:68,940,816...68,964,585
Ensembl chr 2:68,941,249...68,964,567

immunodeficiency 23

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

DOP1 leucine zipper like protein A

ClinVar Annotator: match by term: IMMUNODEFICIENCY-VASCULITIS-MYOCLONUS SYNDROME | ClinVar Annotator: match by term: Immunodeficiency 23

PMID:9536098 PMID:14981714 PMID:17548465 PMID:17576681 PMID:24033266 More...

NCBI chr12:43,477,738...43,585,482
Ensembl chr12:43,478,637...43,585,745

G

malic enzyme 1

ClinVar Annotator: match by term: Immunodeficiency 23

PMID:17548465 PMID:24589341 PMID:24931394 PMID:28492532

NCBI chr12:43,623,413...43,793,590
Ensembl chr12:43,624,945...43,828,775

G

phosphoglucomutase 3

ClinVar Annotator: match by term: IMMUNODEFICIENCY-VASCULITIS-MYOCLONUS SYNDROME | ClinVar Annotator: match by term: Immunodeficiency 23

PMID:1245758 PMID:3500672 PMID:9536098 PMID:14981714 PMID:16199547 More...

NCBI chr12:43,582,472...43,611,583
Ensembl chr12:43,584,940...43,611,777

G

serine protease 35

ClinVar Annotator: match by term: Immunodeficiency 23

NCBI chr12:43,892,492...43,907,050
Ensembl chr12:43,891,652...43,905,441

G

RWD domain containing 2A

ClinVar Annotator: match by term: Immunodeficiency 23

PMID:17548465 PMID:24589341 PMID:24931394 PMID:28492532

NCBI chr12:43,611,589...43,614,843
Ensembl chr12:43,611,670...43,614,603

G

synaptosome associated protein 91

ClinVar Annotator: match by term: Immunodeficiency 23

NCBI chr12:43,919,925...44,058,315
Ensembl chr12:43,919,925...44,058,616

G

trophoblast glycoprotein

ClinVar Annotator: match by term: Immunodeficiency 23

NCBI chr12:42,872,289...42,878,071
Ensembl chr12:42,871,239...42,875,151

G

ubiquitin protein ligase E3D

ClinVar Annotator: match by term: Immunodeficiency 23

NCBI chr12:43,264,956...43,475,583
Ensembl chr12:43,282,372...43,476,086

immunodeficiency 24

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

CTP synthase 1

ClinVar Annotator: match by term: Severe combined immunodeficiency due to CTPS1 deficiency

PMID:9536098 PMID:16199547 PMID:17576681 PMID:24033266 PMID:24870241 More...

NCBI chr15:2,067,767...2,093,014
Ensembl chr15:2,067,763...2,093,014

G

Scm polycomb group protein homolog 1

ClinVar Annotator: match by term: Severe combined immunodeficiency due to CTPS1 deficiency

NCBI chr15:1,917,503...2,056,325
Ensembl chr15:1,917,509...2,058,904

G

schlafen like 1

ClinVar Annotator: match by term: Severe combined immunodeficiency due to CTPS1 deficiency

NCBI chr15:2,060,354...2,065,698
Ensembl chr15:2,061,707...2,065,698

immunodeficiency 26

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

calaxin

ClinVar Annotator: match by term: Severe combined immunodeficiency due to DNA-PKcs deficiency

NCBI chr29:941,821...964,424
Ensembl chr29:955,631...964,507

G

minichromosome maintenance complex component 4

ClinVar Annotator: match by term: Severe combined immunodeficiency due to DNA-PKcs deficiency

NCBI chr29:244,634...261,154
Ensembl chr29:244,656...260,991

G

protein kinase, DNA-activated, catalytic subunit

ClinVar Annotator: match by term: Severe combined immunodeficiency due to DNA-PKcs deficiency

PMID:9536098 PMID:16199547 PMID:17576681 PMID:19075392 PMID:23722905 More...

NCBI chr29:24,904...243,926
Ensembl chr29:35,007...243,895

G

snail family transcriptional repressor 2

ClinVar Annotator: match by term: Severe combined immunodeficiency due to DNA-PKcs deficiency

NCBI chr29:1,154,132...1,156,653
Ensembl chr29:1,154,036...1,156,653

G

ubiquitin conjugating enzyme E2 V2

ClinVar Annotator: match by term: Severe combined immunodeficiency due to DNA-PKcs deficiency

NCBI chr29:307,502...359,058
Ensembl chr29:307,525...357,962

immunodeficiency 32B

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

forkhead box C2

ClinVar Annotator: match by term: Immunodeficiency 32B

NCBI chr 5:66,234,336...66,296,007
Ensembl chr 5:66,294,176...66,295,693

G

forkhead box F1

ClinVar Annotator: match by term: Immunodeficiency 32B

NCBI chr 5:66,343,776...66,347,785
Ensembl chr 5:66,345,150...66,347,935

G

interferon regulatory factor 8

ClinVar Annotator: match by term: Immunodeficiency 32B

PMID:6279813 PMID:9536098 PMID:16199547 PMID:17576681 PMID:21524210 More...

NCBI chr 5:66,789,264...66,812,477
Ensembl chr 5:66,791,350...66,842,179

G

methenyltetrahydrofolate synthetase domain containing

ClinVar Annotator: match by term: Immunodeficiency 32B

NCBI chr 5:66,307,852...66,334,196
Ensembl chr 5:66,307,955...66,331,769

immunodeficiency 33

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ATP binding cassette subfamily D member 1

ClinVar Annotator: match by term: Immunodeficiency 33

NCBI chr X:121,545,690...121,564,117
Ensembl chr X:121,545,586...121,563,186

G

Rho GTPase activating protein 4

ClinVar Annotator: match by term: Immunodeficiency 33

NCBI chr X:121,754,965...121,772,209
Ensembl chr X:121,755,221...121,772,541

G

ATPase plasma membrane Ca2+ transporting 3

ClinVar Annotator: match by term: Immunodeficiency 33

NCBI chr X:121,355,217...121,405,245
Ensembl chr X:121,361,239...121,403,609

G

ATPase H+ transporting accessory protein 1

ClinVar Annotator: match by term: Immunodeficiency 33

NCBI chr X:122,133,314...122,140,949
Ensembl chr X:122,133,325...122,140,447

G

arginine vasopressin receptor 2

ClinVar Annotator: match by term: Immunodeficiency 33

NCBI chr X:121,751,606...121,754,771
Ensembl chr X:121,752,027...121,754,771

G

B cell receptor associated protein 31

ClinVar Annotator: match by term: Immunodeficiency 33

NCBI chr X:121,515,417...121,550,373
Ensembl chr X:121,507,084...121,545,263

G

biglycan

ClinVar Annotator: match by term: Immunodeficiency 33

NCBI chr X:121,330,371...121,334,634
Ensembl chr X:121,330,259...121,334,634

G

BRCA1/BRCA2-containing complex subunit 3

ClinVar Annotator: match by term: Immunodeficiency 33

NCBI chr X:123,081,262...123,143,509
Ensembl chr X:123,081,050...123,140,133

G

cyclin Q

ClinVar Annotator: match by term: Immunodeficiency 33

NCBI chr X:121,409,169...121,418,666
Ensembl chr X:121,409,625...121,418,395

G

chloride intracellular channel 2

ClinVar Annotator: match by term: Immunodeficiency 33

NCBI chr X:123,268,867...123,291,467
Ensembl chr X:123,268,867...123,291,467

G

C-X9-C motif containing 4

ClinVar Annotator: match by term: Immunodeficiency 33

NCBI chr X:123,071,076...123,080,799

G

dyskerin pseudouridine synthase 1

ClinVar Annotator: match by term: Immunodeficiency 33

NCBI chr X:122,838,787...122,850,870
Ensembl chr X:122,838,645...122,850,884

G

deoxyribonuclease 1 like 1

ClinVar Annotator: match by term: Immunodeficiency 33

NCBI chr X:122,101,992...122,109,240
Ensembl chr X:122,101,992...122,109,165

G

dual specificity phosphatase 9

ClinVar Annotator: match by term: Immunodeficiency 33

NCBI chr X:121,460,116...121,472,605
Ensembl chr X:121,460,895...121,472,608

G

emerin

ClinVar Annotator: match by term: Immunodeficiency 33

NCBI chr X:122,050,309...122,052,629
Ensembl chr X:122,050,455...122,052,524

G

coagulation factor VIII

ClinVar Annotator: match by term: Immunodeficiency 33

NCBI chr X:122,894,974...123,046,343
Ensembl chr X:122,885,162...123,043,414

G

coagulation factor VIII associated 1

ClinVar Annotator: match by term: Immunodeficiency 33

NCBI chr X:122,914,362...122,916,199

G

FAM3 metabolism regulating signaling molecule A

ClinVar Annotator: match by term: Immunodeficiency 33

NCBI chr X:122,205,043...122,212,626
Ensembl chr X:122,205,683...122,212,195

G

family with sequence similarity 50 member A

ClinVar Annotator: match by term: Immunodeficiency 33

NCBI chr X:122,148,234...122,158,172
Ensembl chr X:122,148,282...122,154,807

G

filamin A

ClinVar Annotator: match by term: Immunodeficiency 33

NCBI chr X:122,058,303...122,083,467
Ensembl chr X:122,061,455...122,083,203

G

FUN14 domain containing 2

ClinVar Annotator: match by term: Immunodeficiency 33

NCBI chr X:123,046,451...123,064,580
Ensembl chr X:123,045,954...123,064,580

G

glucose-6-phosphate dehydrogenase

ClinVar Annotator: match by term: Immunodeficiency 33

NCBI chr X:122,217,317...122,231,862
Ensembl chr X:122,205,683...122,231,678

G

GRB2 associated binding protein 3

ClinVar Annotator: match by term: Immunodeficiency 33

NCBI chr X:122,741,199...122,822,446
Ensembl chr X:122,741,197...122,779,143

G

GDP dissociation inhibitor 1

ClinVar Annotator: match by term: Immunodeficiency 33

NCBI chr X:122,141,633...122,146,724
Ensembl chr X:122,141,566...122,146,824

G

H2A.B variant histone 1

ClinVar Annotator: match by term: Immunodeficiency 33

NCBI chr X:122,910,412...122,913,373
Ensembl chr X:122,910,968...122,913,382

G

H2A.B variant histone 3

ClinVar Annotator: match by term: Immunodeficiency 33

NCBI chr X:123,309,084...123,310,276

G

HAUS augmin like complex subunit 7

ClinVar Annotator: match by term: Immunodeficiency 33

NCBI chr X:121,264,824...121,296,712
Ensembl chr X:121,266,584...121,297,076

G

host cell factor C1

ClinVar Annotator: match by term: Immunodeficiency 33

NCBI chr X:121,790,585...121,815,395
Ensembl chr X:121,791,660...121,814,715

G

isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit gamma

ClinVar Annotator: match by term: Immunodeficiency 33

NCBI chr X:121,599,368...121,608,707
Ensembl chr X:121,599,368...121,608,643

G

inhibitor of nuclear factor kappa B kinase regulatory subunit gamma

ClinVar Annotator: match by term: Immunodeficiency 33

PMID:8169255 PMID:11047757 PMID:11179023 PMID:11484156 PMID:11590134 More...

NCBI chr X:122,232,052...122,253,499
Ensembl chr X:122,235,878...122,250,562

G

interleukin 1 receptor associated kinase 1

ClinVar Annotator: match by term: Immunodeficiency 33

NCBI chr X:121,853,340...121,862,582
Ensembl chr X:121,819,432...121,862,576

G

L1 cell adhesion molecule

ClinVar Annotator: match by term: Immunodeficiency 33

NCBI chr X:121,708,695...121,722,819
Ensembl chr X:121,708,894...121,733,365

G

L antigen family member 3

ClinVar Annotator: match by term: Immunodeficiency 33

NCBI chr X:122,185,300...122,186,498

G

EKC/KEOPS complex subunit LAGE3-like

ClinVar Annotator: match by term: Immunodeficiency 33

NCBI chr X:122,566,522...122,567,799

G

small nucleolar RNA SNORA56

ClinVar Annotator: match by term: Immunodeficiency 33

G

interleukin-9 receptor

ClinVar Annotator: match by term: Immunodeficiency 33

NCBI chr 6:40,425,072...40,437,917

G

methyl-CpG binding protein 2

ClinVar Annotator: match by term: Immunodeficiency 33

NCBI chr X:121,866,721...121,876,088
Ensembl chr X:121,873,218...121,932,994

G

MAGUK p55 scaffold protein 1

ClinVar Annotator: match by term: Immunodeficiency 33

NCBI chr X:122,851,667...122,878,865
Ensembl chr X:122,851,667...122,879,394

G

mature T cell proliferation 1

ClinVar Annotator: match by term: Immunodeficiency 33

NCBI chr X:123,071,076...123,080,695
Ensembl chr X:123,074,956...123,080,793

G

N-alpha-acetyltransferase 10, NatA catalytic subunit

ClinVar Annotator: match by term: Immunodeficiency 33

NCBI chr X:121,777,658...121,782,097
Ensembl chr X:121,727,573...121,788,860

G

opsin 1, medium wave sensitive

ClinVar Annotator: match by term: Immunodeficiency 33

NCBI chr X:121,974,552...121,987,418
Ensembl chr X:121,974,552...121,987,418

G

PDZ domain containing 4

ClinVar Annotator: match by term: Immunodeficiency 33

NCBI chr X:121,616,122...121,647,326
Ensembl chr X:121,616,114...121,647,697

G

plexin A3

ClinVar Annotator: match by term: Immunodeficiency 33

NCBI chr X:122,165,460...122,180,727
Ensembl chr X:122,167,144...122,180,951

G

plexin B3

ClinVar Annotator: match by term: Immunodeficiency 33

NCBI chr X:121,577,564...121,593,294
Ensembl chr X:121,580,073...121,593,287

G

pregnancy up-regulated nonubiquitous CaM kinase

ClinVar Annotator: match by term: Immunodeficiency 33

NCBI chr X:121,489,041...121,491,356
Ensembl chr X:121,489,040...121,491,431

G

RAB39B, member RAS oncogene family

ClinVar Annotator: match by term: Immunodeficiency 33

NCBI chr X:123,245,227...123,251,283
Ensembl chr X:123,247,760...123,251,288

G

renin binding protein

ClinVar Annotator: match by term: Immunodeficiency 33

NCBI chr X:121,782,411...121,788,928
Ensembl chr X:121,727,573...121,788,860

G

ribosomal protein L10

ClinVar Annotator: match by term: Immunodeficiency 33

NCBI chr X:122,098,020...122,100,719
Ensembl chr X:122,098,020...122,100,719

G

solute carrier family 10 member 3

ClinVar Annotator: match by term: Immunodeficiency 33

NCBI chr X:122,197,049...122,201,103
Ensembl chr X:122,197,289...122,200,219

G

solute carrier family 6 member 8

ClinVar Annotator: match by term: Immunodeficiency 33

NCBI chr X:121,505,117...121,511,674
Ensembl chr X:121,505,141...121,510,347

G

small integral membrane protein 9

ClinVar Annotator: match by term: Immunodeficiency 33

NCBI chr X:122,885,491...122,893,466

G

sprouty RTK signaling antagonist 3

ClinVar Annotator: match by term: Immunodeficiency 33

NCBI chr X:123,436,201...123,624,816
Ensembl chr X:123,620,920...123,621,786

G

SRSF protein kinase 3

ClinVar Annotator: match by term: Immunodeficiency 33

NCBI chr X:121,594,992...121,599,333
Ensembl chr X:121,594,864...121,599,277

G

signal sequence receptor subunit 4

ClinVar Annotator: match by term: Immunodeficiency 33

NCBI chr X:121,608,802...121,613,796
Ensembl chr X:121,608,944...121,613,795

G

tafazzin, phospholipid-lysophospholipid transacylase

ClinVar Annotator: match by term: Immunodeficiency 33

NCBI chr X:122,111,608...122,125,714
Ensembl chr X:122,111,434...122,125,506

G

testis expressed 28

ClinVar Annotator: match by term: Immunodeficiency 33

NCBI chr X:121,987,726...122,030,718
Ensembl chr X:121,986,906...121,996,306

G

transketolase like 1

ClinVar Annotator: match by term: Immunodeficiency 33

NCBI chr X:122,007,270...122,034,500
Ensembl chr X:122,007,282...122,034,255

G

transmembrane protein 187

ClinVar Annotator: match by term: Immunodeficiency 33

NCBI chr X:121,815,982...121,820,790

G

trimethyllysine hydroxylase, epsilon

ClinVar Annotator: match by term: Immunodeficiency 33

NCBI chr X:123,322,773...123,438,999
Ensembl chr X:123,324,729...123,438,947

G

three prime repair exonuclease 2

ClinVar Annotator: match by term: Immunodeficiency 33

NCBI chr X:121,263,341...121,265,009
Ensembl chr X:121,258,646...121,264,555

G

ubiquitin like 4A

ClinVar Annotator: match by term: Immunodeficiency 33

NCBI chr X:122,195,500...122,196,579
Ensembl chr X:122,195,502...122,196,577

G

vesicle associated membrane protein 7

ClinVar Annotator: match by term: Immunodeficiency 33

NCBI chr X:123,717,524...123,783,781
Ensembl chr X:123,717,446...123,783,014

G

VHL binding protein 1

ClinVar Annotator: match by term: Immunodeficiency 33

NCBI chr X:123,210,965...123,231,847
Ensembl chr X:123,203,722...123,231,091

immunodeficiency 36

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

phosphoinositide-3-kinase regulatory subunit 1

ClinVar Annotator: match by term: IMMUNODEFICIENCY 36 WITH LYMPHOPROLIFERATION | ClinVar Annotator: match by term: Immunodeficiency 36

PMID:269880 PMID:6407320 PMID:7705412 PMID:8574420 PMID:11135494 More...

NCBI chr 2:53,447,802...53,527,563
Ensembl chr 2:53,448,286...53,524,970

immunodeficiency 37

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

BCL10 immune signaling adaptor

ClinVar Annotator: match by term: Immunodeficiency 37

PMID:9536098 PMID:9989495 PMID:10380920 PMID:10408400 PMID:17576681 More...

NCBI chr 6:62,712,937...62,723,852
Ensembl chr 6:62,712,971...62,722,368

immunodeficiency 40

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

chromosome 4 C5orf58 homolog

ClinVar Annotator: match by term: DOCK2 deficiency

PMID:26083206 PMID:28492532

NCBI chr 4:41,656,638...41,665,051

G

dedicator of cytokinesis 2

ClinVar Annotator: match by term: DOCK2 deficiency | ClinVar Annotator: match by term: Immunodeficiency 40

PMID:9536098 PMID:16199547 PMID:17576681 PMID:25741868 PMID:26083206 More...

NCBI chr 4:41,779,950...42,177,957
Ensembl chr 4:41,780,436...42,235,177

G

forkhead box I1

ClinVar Annotator: match by term: DOCK2 deficiency

PMID:26083206 PMID:28492532

NCBI chr 4:41,760,899...41,764,887
Ensembl chr 4:41,761,016...41,764,836

G

gamma-aminobutyric acid type A receptor subunit pi

ClinVar Annotator: match by term: DOCK2 deficiency

NCBI chr 4:41,164,725...41,186,716
Ensembl chr 4:41,166,453...41,184,589

G

inhibitory synaptic factor family member 2B

ClinVar Annotator: match by term: DOCK2 deficiency

PMID:25741868 PMID:26083206 PMID:28492532

NCBI chr 4:41,871,751...41,987,310
Ensembl chr 4:41,964,892...42,024,748

G

potassium voltage-gated channel interacting protein 1

ClinVar Annotator: match by term: DOCK2 deficiency

NCBI chr 4:41,220,128...41,566,841
Ensembl chr 4:41,223,369...41,431,510

G

potassium calcium-activated channel subfamily M regulatory beta subunit 1

ClinVar Annotator: match by term: DOCK2 deficiency

NCBI chr 4:41,536,841...41,545,523
Ensembl chr 4:41,537,225...41,545,344

G

lymphocyte cytosolic protein 2

ClinVar Annotator: match by term: DOCK2 deficiency

NCBI chr 4:41,611,674...41,656,792
Ensembl chr 4:41,611,775...41,656,364

G

microRNA mir-103-1

ClinVar Annotator: match by term: DOCK2 deficiency

PMID:26083206 PMID:28492532

NCBI chr 4:43,182,876...43,182,937
Ensembl chr 4:43,182,871...43,182,942

G

pantothenate kinase 3

ClinVar Annotator: match by term: DOCK2 deficiency

PMID:26083206 PMID:28492532

NCBI chr 4:43,168,407...43,192,451
Ensembl chr 4:43,137,709...43,186,022

G

arginyl-tRNA synthetase 1

ClinVar Annotator: match by term: DOCK2 deficiency

PMID:26083206 PMID:28492532

NCBI chr 4:43,237,499...43,260,738
Ensembl chr 4:43,237,499...43,260,677

G

slit guidance ligand 3

ClinVar Annotator: match by term: DOCK2 deficiency

PMID:26083206 PMID:28492532

NCBI chr 4:42,506,680...43,099,053
Ensembl chr 4:42,508,426...43,094,714

G

spindle apparatus coiled-coil protein 1

ClinVar Annotator: match by term: DOCK2 deficiency

PMID:26083206 PMID:28492532

NCBI chr 4:42,214,997...42,235,282
Ensembl chr 4:41,780,436...42,235,177

G

WW and C2 domain containing 1

ClinVar Annotator: match by term: DOCK2 deficiency

PMID:26083206 PMID:28492532

NCBI chr 4:43,279,788...43,431,503
Ensembl chr 4:43,280,447...43,431,144

immunodeficiency 41

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

F-box DNA helicase 1

ClinVar Annotator: match by term: Immunodeficiency due to CD25 deficiency

NCBI chr 2:30,047,994...30,095,761
Ensembl chr 2:30,048,567...30,095,696

G

interleukin 15 receptor subunit alpha

ClinVar Annotator: match by term: Immunodeficiency due to CD25 deficiency

NCBI chr 2:29,981,385...30,034,364
Ensembl chr 2:29,981,234...30,038,945

G

interleukin 2 receptor subunit alpha

susceptibility

ClinVar Annotator: match by term: Immunodeficiency due to CD25 deficiency

PMID:9096364 PMID:9536098 PMID:16199547 PMID:17196245 PMID:17576681 More...

NCBI chr 2:29,892,130...29,948,926
Ensembl chr 2:29,894,125...29,944,643

immunodeficiency 46

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Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

transferrin receptor