B cell deficiency - 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:	B cell deficiency	go back to main search page
Accession:	DOID:2115	browse the term
Definition:	A primary immunnodeficiency disease that is caused by a lack of infection-fighting antibody producing B cells (immunoglobulins) or B cells that are not functioning properly. (DO)
Synonyms:	exact_synonym:	B cell (antibody) deficiencies; immunoglobulin heavy chain deficiency; immunoglobulin heavy chain deletion
	xref:	ICD9CM:279.03
For additional species annotation, visit the Alliance of Genome Resources.

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Rat (446) Mouse (444) Human (11901) Chinchilla (402) Bonobo (447) Dog (439) Squirrel (420) Pig (428) Green Monkey (440) Naked Mole-rat (406) All
Genes (444) Strains (2)

B cell deficiency

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

immunoglobulin heavy constant epsilon

RGD

Ensembl chr 6:132,329,269...133,053,426

G

immunoglobulin heavy constant mu; ZFN induced mutant1, Ang

RGD

G

immunoglobulin heavy constant mu; ZFN induced mutant2, Ang

RGD

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 chr 3:173,950,530...173,962,188
Ensembl chr 3:153,531,193...153,542,851

G

activin A receptor like type 1

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

PMID:9245985 PMID:10187774 PMID:12114496 PMID:14684682 PMID:15880681 More...

NCBI chr 7:134,117,917...134,135,306
Ensembl chr 7:132,239,729...132,256,591

G

adenosine deaminase

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
CTD Direct Evidence: marker/mechanism
OMIM:102700

OMIM
ClinVar
CTD
MouseDO

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

NCBI chr 3:172,818,174...172,842,283
Ensembl chr 3:152,398,747...152,447,088

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 chr 3:172,910,670...172,922,064
Ensembl chr 3:152,491,220...152,502,636

G

Cd247 molecule

ClinVar Annotator: match by term: Bubble boy disease

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

NCBI chr13:80,576,264...80,651,422
Ensembl chr13:78,043,307...78,122,263

G

CD3 epsilon subunit of T-cell receptor complex

ClinVar Annotator: match by term: Bubble boy disease

PMID:25741868 PMID:28492532

NCBI chr 8:54,200,617...54,211,770
Ensembl chr 8:45,303,852...45,315,022

G

CD3 gamma subunit of T-cell receptor complex

ClinVar Annotator: match by term: Bubble boy disease

PMID:1635567 PMID:17277165 PMID:24910257 PMID:25741868 PMID:28492532 More...

NCBI chr 8:54,177,572...54,184,087
Ensembl chr 8:45,281,204...45,287,147

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 chr 3:174,209,113...174,224,592
Ensembl chr 3:153,790,449...153,805,534

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 chr 3:174,264,869...174,389,940
Ensembl chr 3:153,845,787...153,970,588

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 chr 3:173,988,443...173,994,320
Ensembl chr 3:153,568,381...153,576,215

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 chr 3:173,634,551...173,639,999
Ensembl chr 3:153,191,090...153,220,651

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 chr 3:153,481,718...153,505,403
Ensembl chr 3:153,481,705...153,505,759

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 chr 3:174,442,965...174,716,723
Ensembl chr 3:154,023,661...154,061,185

G

epididymal 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 chr 3:173,731,739...173,738,651
Ensembl chr 3:153,312,396...153,319,310

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 chr 3:172,560,781...172,567,291
Ensembl chr 3:152,141,346...152,147,858

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 chr 3:152,110,225...152,129,693
Ensembl chr 3:152,110,253...152,128,711

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 chr 3:151,736,020...151,738,715
Ensembl chr 3:151,735,997...151,736,863

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 chr 3:172,606,220...172,667,758
Ensembl chr 3:152,186,787...152,248,320

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 chr 3:172,091,591...172,116,497
Ensembl chr 3:151,672,493...151,696,980

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
ClinVar Annotator: match by term: Bubble boy disease | ClinVar Annotator: match by term: SCID DUE TO ADA DEFICIENCY

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

NCBI chr16:18,418,807...18,432,515
Ensembl chr16:18,386,405...18,398,536

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 chr 3:172,414,246...172,478,678
Ensembl chr 3:151,994,778...152,058,904

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 chr 3:152,515,237...152,521,455
Ensembl chr 3:152,515,237...152,521,455

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 chr 3:173,255,028...173,262,432
Ensembl chr 3:152,835,644...152,842,960

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 chr 3:173,539,966...173,554,984
Ensembl chr 3:153,120,632...153,135,865

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 chr 3:174,103,474...174,111,434
Ensembl chr 3:153,683,858...153,692,120

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 chr 3:172,124,765...172,153,221
Ensembl chr 3:151,705,288...151,733,708

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 chr15:32,416,525...32,439,851
Ensembl chr15:28,446,550...28,468,217

G

nibrin

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

PMID:25326637 PMID:26467025 PMID:28492532 PMID:30287823

NCBI chr 5:34,256,678...34,291,163
Ensembl chr 5:29,459,457...29,494,150

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 chr 3:174,155,731...174,188,862
Ensembl chr 3:153,736,420...153,769,553

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 chr 3:173,985,996...173,988,717
Ensembl chr 3:153,566,660...153,569,380

G

nonhomologous end-joining factor 1

ClinVar Annotator: match by term: Bubble boy disease

PMID:12604777 PMID:16439204 PMID:16439205 PMID:16571728 PMID:20597108 More...

NCBI chr 9:83,974,995...84,071,161
Ensembl chr 9:76,526,324...76,622,444

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 chr 3:174,550,420...174,560,907
Ensembl chr 3:154,132,328...154,136,991

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 chr 3:172,486,417...172,504,607
Ensembl chr 3:152,066,975...152,085,149

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 chr 3:173,111,856...173,145,389
Ensembl chr 3:152,693,700...152,725,997

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 chr 3:153,614,147...153,627,079
Ensembl chr 3:153,614,147...153,627,079

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 chr 3:153,227,749...153,236,922
Ensembl chr 3:153,227,420...153,236,887

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 chr 3:172,749,871...172,817,514
Ensembl chr 3:152,366,041...152,398,082

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 chr 3:173,994,162...174,011,982
Ensembl chr 3:153,574,825...153,592,647

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 chr 3:172,590,815...172,601,584
Ensembl chr 3:152,171,382...152,182,151

G

Rac family small GTPase 2

ClinVar Annotator: match by term: Bubble boy disease

PMID:25741868 PMID:28492532 PMID:30723080

NCBI chr 7:111,981,825...112,009,201
Ensembl chr 7:110,116,260...110,128,720

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 chr 3:108,372,087...108,383,184
Ensembl chr 3:87,917,004...87,928,291

G

recombination activating 2

ClinVar Annotator: match by term: Bubble boy disease

PMID:10777560 PMID:11313270 PMID:15025726 PMID:16960852 PMID:23243423 More...

NCBI chr 3:108,357,399...108,367,186
Ensembl chr 3:87,902,238...87,911,066

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 chr 3:173,553,389...173,565,869
Ensembl chr 3:153,134,140...153,146,513

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 chr 3:172,940,404...173,004,490
Ensembl chr 3:152,524,095...152,584,780

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 chr 3:173,574,239...173,592,923
Ensembl chr 3:153,154,896...153,173,580

G

semenogelin 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 chr 3:173,329,413...173,332,261
Ensembl chr 3:152,910,034...152,912,882

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 chr 3:152,301,882...152,321,327
Ensembl chr 3:152,301,772...152,321,808

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 chr 3:174,115,833...174,155,112
Ensembl chr 3:153,696,517...153,735,765

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 chr 3:174,561,174...174,623,893
Ensembl chr 3:154,141,872...154,204,606

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 chr 3:174,659,683...174,671,978
Ensembl chr 3:154,240,391...154,252,690

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 chr 3:174,431,688...174,442,852
Ensembl chr 3:154,012,416...154,023,488

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 chr 3:173,501,573...173,503,822
Ensembl chr 3:153,082,369...153,084,453

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 chr 3:153,522,474...153,532,235
Ensembl chr 3:153,522,486...153,532,221

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 chr 3:173,981,863...173,983,818
Ensembl chr 3:153,562,528...153,564,480

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 chr 3:173,713,314...173,716,062
Ensembl chr 3:153,294,010...153,296,779

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 chr 3:153,430,633...153,432,821
Ensembl chr 3:153,430,633...153,433,439

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 chr 3:173,165,238...173,247,135
Ensembl chr 3:152,745,681...152,827,744

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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 chr 3:173,610,332...173,637,624
Ensembl chr 3:153,191,090...153,220,651

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 chr 3:173,932,611...173,935,339
Ensembl chr 3:153,513,271...153,516,029

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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 chr 3:173,148,737...173,165,689
Ensembl chr 3:152,729,349...152,746,373

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 chr 3:172,272,718...172,400,235
Ensembl chr 3:151,853,294...151,980,749

G

Tp53 tumor protein p53 regulating kinase 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 chr 3:174,638,962...174,645,198
Ensembl chr 3:154,220,851...154,224,328

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 chr 3:153,200,792...153,204,337
Ensembl chr 3:153,200,789...153,204,349

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 chr 3:172,697,683...172,715,973
Ensembl chr 3:152,278,303...152,296,513

G

ubiquitin-conjugating enzyme E2C

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 chr 3:173,925,975...173,928,375
Ensembl chr 3:153,506,636...153,513,339

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 chr 3:153,390,067...153,391,420
Ensembl chr 3:153,390,067...153,391,420

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 chr 3:153,397,585...153,406,407

G

WAP four-disulfide core domain 12

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 chr 3:173,280,844...173,282,167
Ensembl chr 3:152,862,341...152,862,690

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 chr 3:153,419,553...153,421,306
Ensembl chr 3:153,419,648...153,421,221

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 chr 3:173,706,091...173,735,055
Ensembl chr 3:153,286,131...153,292,807

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 chr 3:173,884,206...173,898,294
Ensembl chr 3:153,464,862...153,478,952

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 chr 3:173,268,410...173,274,253
Ensembl chr 3:152,849,025...152,854,904

G

WAP four-disulfide core domain 6A

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 chr 3:173,724,681...173,728,489
Ensembl chr 3:153,305,336...153,309,144

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 chr 3:153,323,503...153,339,849
Ensembl chr 3:153,324,413...153,339,842

G

WAP four-disulfide core domain 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 chr 3:153,380,554...153,389,055
Ensembl chr 3:153,380,649...153,391,261

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 chr 3:173,078,904...173,101,508
Ensembl chr 3:152,659,651...152,682,105

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 chr 3:174,531,835...174,544,374
Ensembl chr 3:154,113,561...154,125,057

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 chr 3:174,046,789...174,073,076
Ensembl chr 3:153,627,467...153,647,054

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 chr 3:153,559,104...153,562,821
Ensembl chr 3:153,558,970...153,562,915

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 chr 3:153,542,741...153,558,022
Ensembl chr 3:153,542,743...153,558,018

agammaglobulinemia

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

B-cell linker

susceptibility

DNA:splice-site mutation
CTD Direct Evidence: marker/mechanism

CTD
RGD

NCBI chr 1:249,703,064...249,770,533
Ensembl chr 1:239,753,648...239,821,113

G

Bruton tyrosine kinase

susceptibility

DNA:insertions, point mutations
CTD Direct Evidence: therapeutic

CTD
RGD

PMID:15142874 PMID:8162018

NCBI chr X:102,016,070...102,055,448
Ensembl chr X:97,722,802...97,761,853

G

CD19 molecule

CTD Direct Evidence: marker/mechanism

NCBI chr 1:190,417,853...190,424,494
Ensembl chr 1:180,987,286...180,993,975

G

CD79a molecule

CTD Direct Evidence: marker/mechanism

NCBI chr 1:89,621,460...89,625,813
Ensembl chr 1:80,493,581...80,497,935

G

CD79b molecule

CTD Direct Evidence: marker/mechanism

NCBI chr10:91,739,134...91,742,312
Ensembl chr10:91,239,356...91,242,625

G

leucine rich repeat containing 8 VRAC subunit A

CTD Direct Evidence: marker/mechanism

CTD
RGD

NCBI chr 3:33,902,299...33,934,989
Ensembl chr 3:13,510,513...13,536,202

G

transcription factor 3

CTD Direct Evidence: marker/mechanism

NCBI chr 7:9,931,251...9,952,994
Ensembl chr 7:9,280,571...9,302,314

agammaglobulinemia 1

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

Bruton tyrosine kinase

ClinVar Annotator: match by term: Autosomal recessive agammaglobulinemia 1

PMID:7678697 PMID:7809124 PMID:7849697 PMID:7849721 PMID:7880320 More...

NCBI chr X:102,016,070...102,055,448
Ensembl chr X:97,722,802...97,761,853

G

CD79a molecule

ClinVar Annotator: match by term: Autosomal recessive agammaglobulinemia 1

PMID:25741868 PMID:28492532

NCBI chr 1:89,621,460...89,625,813
Ensembl chr 1:80,493,581...80,497,935

agammaglobulinemia 10

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

Spi-1 proto-oncogene

ClinVar Annotator: match by term: AGAMMAGLOBULINEMIA, AUTOSOMAL DOMINANT, DUE TO SPI1 DEFECT | ClinVar Annotator: match by term: Agammaglobulinemia 10, autosomal dominant

PMID:25741868 PMID:33951726

NCBI chr 3:97,529,509...97,548,204
Ensembl chr 3:77,073,012...77,092,393

agammaglobulinemia 2

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

similar to human chromosome 22 open reading frame 15

ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive

NCBI chr20:12,720,651...12,725,304
Ensembl chr20:12,723,160...12,726,059

G

coiled-coil-helix-coiled-coil-helix domain containing 10

ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive

NCBI chr20:12,725,274...12,730,295
Ensembl chr20:12,725,842...12,732,763

G

derlin 3

ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive

NCBI chr20:12,754,490...12,768,454
Ensembl chr20:12,763,543...12,767,027

G

macrophage migration inhibitory factor

ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive

NCBI chr20:12,767,138...12,791,222
Ensembl chr20:12,790,902...12,799,504
Ensembl chr 4:12,790,902...12,799,504

G

matrix metallopeptidase 11

ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive

NCBI chr20:12,730,284...12,739,067
Ensembl chr20:12,730,836...12,739,628

G

SWI/SNF related BAF chromatin remodeling complex subunit B1

ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive

NCBI chr20:12,740,105...12,763,054
Ensembl chr20:12,741,477...12,763,620

G

V-set pre-B cell surrogate light chain 3

ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive

NCBI chr20:12,716,862...12,720,108
Ensembl chr20:12,716,779...12,719,520

agammaglobulinemia 3

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

CD79a molecule

ClinVar Annotator: match by term: Agammaglobulinemia 3, autosomal recessive | ClinVar Annotator: match by term: CD79A-related condition

PMID:9536098 PMID:10525050 PMID:11920841 PMID:16199547 PMID:17576681 More...

NCBI chr 1:89,621,460...89,625,813
Ensembl chr 1:80,493,581...80,497,935

G

ribosomal protein S19

ClinVar Annotator: match by term: Agammaglobulinemia 3, autosomal recessive

NCBI chr 1:89,608,408...89,614,390
Ensembl chr 1:80,480,951...80,486,508
Ensembl chr 7:80,480,951...80,486,508

agammaglobulinemia 4

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

aldehyde dehydrogenase 18 family, member A1

ClinVar Annotator: match by term: Agammaglobulinemia 4, autosomal recessive

NCBI chr 1:249,325,082...249,357,383
Ensembl chr 1:239,375,669...239,407,890

G

B-cell linker

ClinVar Annotator: match by term: AGAMMAGLOBULINEMIA, AUTOSOMAL RECESSIVE, DUE TO BLNK DEFECT | ClinVar Annotator: match by term: Agammaglobulinemia 4, autosomal recessive | ClinVar Annotator: match by term: B cell linker protein deficiency

PMID:9536098 PMID:10583958 PMID:16199547 PMID:17576681 PMID:24033266 More...

NCBI chr 1:249,703,064...249,770,533
Ensembl chr 1:239,753,648...239,821,113

G

coiled-coil and C2 domain containing 2B

ClinVar Annotator: match by term: Agammaglobulinemia 4, autosomal recessive

NCBI chr 1:239,561,506...239,655,771
Ensembl chr 1:239,561,987...239,682,416

G

cyclin J

ClinVar Annotator: match by term: Agammaglobulinemia 4, autosomal recessive

NCBI chr 1:249,608,991...249,626,798

G

ectonucleoside triphosphate diphosphohydrolase 1

ClinVar Annotator: match by term: Agammaglobulinemia 4, autosomal recessive

NCBI chr 1:249,374,810...249,502,310
Ensembl chr 1:239,425,430...239,552,317

G

tectonic family member 3

ClinVar Annotator: match by term: Agammaglobulinemia 4, autosomal recessive

NCBI chr 1:249,363,428...249,374,698
Ensembl chr 1:239,415,203...239,425,272

G

zinc finger protein 518A

ClinVar Annotator: match by term: Agammaglobulinemia 4, autosomal recessive

PMID:9536098 PMID:10583958 PMID:17576681 PMID:24582315 PMID:25741868 More...

NCBI chr 1:249,668,815...249,694,401
Ensembl chr 1:239,719,505...239,744,979

agammaglobulinemia 5

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

leucine rich repeat containing 8 VRAC subunit A

ClinVar Annotator: match by term: AGAMMAGLOBULINEMIA, AUTOSOMAL DOMINANT, DUE TO LRRC8A DEFECT | ClinVar Annotator: match by term: Agammaglobulinemia 5, autosomal dominant | ClinVar Annotator: match by term: LRRC8A-related condition

PMID:24033266 PMID:25741868 PMID:28492532

NCBI chr 3:33,902,299...33,934,989
Ensembl chr 3:13,510,513...13,536,202

agammaglobulinemia 6

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

CD79b molecule

ClinVar Annotator: match by term: AGAMMAGLOBULINEMIA, AUTOSOMAL RECESSIVE, DUE TO CD79B DEFECT | ClinVar Annotator: match by term: Agammaglobulinemia 6, autosomal recessive

PMID:9536098 PMID:17576681 PMID:17675462 PMID:17709424 PMID:24033266 More...

NCBI chr10:91,739,134...91,742,312
Ensembl chr10:91,239,356...91,242,625

agammaglobulinemia 7

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: AGAMMAGLOBULINEMIA, AUTOSOMAL RECESSIVE, DUE TO PIK3R1 DEFECT | ClinVar Annotator: match by term: Agammaglobulinemia 7, autosomal recessive

PMID:18414213 PMID:22351933 PMID:24033266 PMID:25133428 PMID:25488983 More...

NCBI chr 2:34,612,946...34,697,660
Ensembl chr 2:32,882,032...32,963,631

Agammaglobulinemia 8

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

transcription factor 3

ClinVar Annotator: match by term: TCF3-related condition

PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 PMID:34618307

NCBI chr 7:9,931,251...9,952,994
Ensembl chr 7:9,280,571...9,302,314

agammaglobulinemia 8A

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

transcription factor 3

ClinVar Annotator: match by term: AGAMMAGLOBULINEMIA 8A, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: Agammaglobulinemia 8, autosomal dominant

PMID:9536098 PMID:17576681 PMID:21693761 PMID:24216514 PMID:25741868 More...

NCBI chr 7:9,931,251...9,952,994
Ensembl chr 7:9,280,571...9,302,314

agammaglobulinemia 8B

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

transcription factor 3

ClinVar Annotator: match by term: AGAMMAGLOBULINEMIA, AUTOSOMAL RECESSIVE, DUE TO TCF3 DEFECT | ClinVar Annotator: match by term: Agammaglobulinemia 8b, autosomal recessive

PMID:25741868 PMID:28492532 PMID:28532655 PMID:30063982 PMID:34618307

NCBI chr 7:9,931,251...9,952,994
Ensembl chr 7:9,280,571...9,302,314

agammaglobulinemia 9

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

solute carrier family 39 member 7

ClinVar Annotator: match by term: Agammaglobulinemia 9, autosomal recessive | ClinVar Annotator: match by term: SLC39A7-related condition

PMID:25741868 PMID:28492532 PMID:30718914

NCBI chr20:4,824,967...4,828,431
Ensembl chr20:4,822,012...4,826,537

autoimmune lymphoproliferative syndrome type 3

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

protein kinase C, delta

ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome, type III

PMID:9536098 PMID:11976687 PMID:16199547 PMID:17576681 PMID:23319571 More...

NCBI chr16:5,775,681...5,806,122
Ensembl chr16:5,769,215...5,799,352

G

RFT1 homolog

ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome, type III

PMID:11976687 PMID:23319571 PMID:23430113 PMID:28492532

NCBI chr16:5,833,521...5,867,578
Ensembl chr16:5,827,088...5,861,120

autosomal recessive osteopetrosis 7

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

TNF receptor superfamily member 11A

ClinVar Annotator: match by term: Autosomal recessive osteoclast-poor osteopetrosis with hypogammaglobulinemia | ClinVar Annotator: match by term: Autosomal recessive osteopetrosis 7
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
CTD

PMID:9536098 PMID:15231021 PMID:17576681 PMID:18606301 PMID:19940926 More...

NCBI chr13:22,442,930...22,501,257
Ensembl chr13:21,928,408...21,986,695

B-Cell Immunodeficiency, Distal Limb Anomalies, and Urogenital Malformations

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

midline 1

ClinVar Annotator: match by term: B-cell immunodeficiency, distal limb anomalies, and urogenital malformations

NCBI chr X:27,678,248...28,053,049
Ensembl chr X:24,120,293...24,248,353

G

DNA topoisomerase II beta

ClinVar Annotator: match by term: B-cell immunodeficiency, distal limb anomalies, and urogenital malformations | ClinVar Annotator: match by term: TOP2B-related condition

PMID:9536098 PMID:11152140 PMID:11476068 PMID:15521984 PMID:17576681 More...

NCBI chr15:11,482,089...11,542,464
Ensembl chr15:9,051,341...9,112,085

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

PMID:25741868 PMID:29884852

NCBI chr 3:174,209,113...174,224,592
Ensembl chr 3:153,790,449...153,805,534

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
CTD Direct Evidence: marker/mechanism
DNA:mutations:multiple (human)
DNA:mutations:exon, intron:multiple
DNA:missense mutation:exon:p.T169N (526T>A) (human)

ClinVar
RGD
CTD
OMIM

PMID:15611226 PMID:21841160 PMID:25741868 PMID:28492532 PMID:21841160 More...

RGD:5490298, RGD:5490298, RGD:11039457, RGD:8547781, RGD:8547779

NCBI chr X:140,164,341...140,176,057
Ensembl chr X:135,126,969...135,138,306

common variable immunodeficiency

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

acyl-CoA dehydrogenase, very long chain

ClinVar Annotator: match by term: Common variable immunodeficiency

NCBI chr10:55,231,558...55,236,786
Ensembl chr10:54,732,469...54,738,075

G

ArfGAP with coiled-coil, ankyrin repeat and PH domains 1

ClinVar Annotator: match by term: Common variable immunodeficiency

NCBI chr10:55,104,040...55,119,280
Ensembl chr10:54,605,323...54,619,472

G

arachidonate 12-lipoxygenase, 12S type

ClinVar Annotator: match by term: Common variable immunodeficiency

NCBI chr10:55,456,923...55,469,239
Ensembl chr10:54,958,271...54,970,542

G

arachidonate 12-lipoxygenase, 12R type

ClinVar Annotator: match by term: Common variable immunodeficiency

NCBI chr10:54,361,898...54,373,776
Ensembl chr10:53,863,060...53,874,938

G

arachidonate 15-lipoxygenase, type B

ClinVar Annotator: match by term: Common variable immunodeficiency

NCBI chr10:54,391,331...54,400,648
Ensembl chr10:53,892,466...53,901,812

G

arachidonate epidermal lipoxygenase 3

ClinVar Annotator: match by term: Common variable immunodeficiency

NCBI chr10:54,329,224...54,353,167
Ensembl chr10:53,831,264...53,854,328

G

asialoglycoprotein receptor 1

ClinVar Annotator: match by term: Common variable immunodeficiency

NCBI chr10:55,274,299...55,278,323
Ensembl chr10:54,776,024...54,779,631

G

asialoglycoprotein receptor 2

ClinVar Annotator: match by term: Common variable immunodeficiency

NCBI chr10:55,320,082...55,333,294
Ensembl chr10:54,821,438...54,834,617

G

ATPase Na+/K+ transporting subunit beta 2

ClinVar Annotator: match by term: Common variable immunodeficiency

NCBI chr10:54,817,473...54,823,708
Ensembl chr10:54,318,701...54,324,933

G

aurora kinase B

ClinVar Annotator: match by term: Common variable immunodeficiency

NCBI chr10:54,243,116...54,249,675
Ensembl chr10:53,745,142...53,750,837

G

BPTF associated chromatin complex component 1

ClinVar Annotator: match by term: Common variable immunodeficiency

NCBI chr10:55,450,648...55,453,409
Ensembl chr10:54,951,991...54,956,601

G

BCL6B, transcription repressor

ClinVar Annotator: match by term: Common variable immunodeficiency

NCBI chr10:55,439,566...55,444,631
Ensembl chr10:54,940,909...54,945,974

G

BLOC-1 related complex subunit 6

ClinVar Annotator: match by term: Common variable immunodeficiency

NCBI chr10:54,259,349...54,261,203
Ensembl chr10:53,758,093...53,762,632

G

Bruton tyrosine kinase

ClinVar Annotator: match by term: Common variable immunodeficiency

PMID:11472359 PMID:18241230 PMID:25741868 PMID:28492532

NCBI chr X:102,016,070...102,055,448
Ensembl chr X:97,722,802...97,761,853

G

CD19 molecule

CTD Direct Evidence: marker/mechanism

NCBI chr 1:190,417,853...190,424,494
Ensembl chr 1:180,987,286...180,993,975

G

CD40 ligand

ClinVar Annotator: match by term: Common variable immunodeficiency

PMID:9150729 PMID:9746782 PMID:15358621 PMID:25741868

NCBI chr X:140,164,341...140,176,057
Ensembl chr X:135,126,969...135,138,306

G

Cd68 molecule

ClinVar Annotator: match by term: Common variable immunodeficiency

NCBI chr10:54,880,562...54,882,441
Ensembl chr10:54,381,815...54,383,697

G

Cd81 molecule

CTD Direct Evidence: marker/mechanism

NCBI chr 1:207,665,274...207,681,094
Ensembl chr 1:198,241,484...198,251,660

G

chromodomain helicase DNA binding protein 3

ClinVar Annotator: match by term: Common variable immunodeficiency

NCBI chr10:54,562,437...54,588,842
Ensembl chr10:54,063,629...54,090,047

G

cholinergic receptor nicotinic beta 1 subunit

ClinVar Annotator: match by term: Common variable immunodeficiency

NCBI chr10:54,999,943...55,015,137
Ensembl chr10:54,501,093...54,516,345

G

claudin 7

ClinVar Annotator: match by term: Common variable immunodeficiency

NCBI chr10:55,188,670...55,190,871
Ensembl chr10:54,689,987...54,692,171

G

C-type lectin domain containing 10A

ClinVar Annotator: match by term: Common variable immunodeficiency

NCBI chr10:55,374,914...55,379,110
Ensembl chr10:54,876,260...54,880,435

G

centrobin, centriole duplication and spindle assembly protein

ClinVar Annotator: match by term: Common variable immunodeficiency

NCBI chr10:54,521,338...54,546,569
Ensembl chr10:54,022,852...54,044,849

G

complement C3d receptor 2

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Immunoglobulin deficiency, late-onset

PMID:25741868 PMID:28492532

NCBI chr13:109,207,034...109,244,980
Ensembl chr13:106,685,413...106,716,235

G

CST telomere replication complex component 1

ClinVar Annotator: match by term: Common variable immunodeficiency

NCBI chr10:54,212,537...54,234,146
Ensembl chr10:53,714,644...53,735,298

G

CTD nuclear envelope phosphatase 1

ClinVar Annotator: match by term: Common variable immunodeficiency

NCBI chr10:55,203,047...55,212,469
Ensembl chr10:54,704,148...54,713,781

G

cytochrome b5 domain containing 1

ClinVar Annotator: match by term: Common variable immunodeficiency

NCBI chr10:54,612,230...54,616,375
Ensembl chr10:54,113,438...54,117,911

G

DNA cross-link repair 1C

DNA:missense mutation, frameshift mutation: :p.T65I (c.194C>T), c.1669_1670insA (human)

RGD

NCBI chr17:79,684,988...79,718,399
Ensembl chr17:74,776,935...74,809,186

G

discs large MAGUK scaffold protein 4

ClinVar Annotator: match by term: Common variable immunodeficiency

NCBI chr10:55,239,397...55,267,780
Ensembl chr10:54,739,470...54,767,153

G

dynein, axonemal, heavy chain 2

ClinVar Annotator: match by term: Common variable immunodeficiency

NCBI chr10:54,641,450...54,766,502
Ensembl chr10:54,142,737...54,267,298

G

dishevelled segment polarity protein 2

ClinVar Annotator: match by term: Common variable immunodeficiency

NCBI chr10:55,222,245...55,231,506
Ensembl chr10:54,723,411...54,732,820

G

ephrin B3

ClinVar Annotator: match by term: Common variable immunodeficiency

NCBI chr10:54,773,282...54,780,727
Ensembl chr10:54,274,506...54,280,471

G

eukaryotic translation initiation factor 4A1

ClinVar Annotator: match by term: Common variable immunodeficiency

NCBI chr10:54,883,093...54,888,602
Ensembl chr10:54,384,347...54,389,858

G

eukaryotic translation initiation factor 5A

ClinVar Annotator: match by term: Common variable immunodeficiency

NCBI chr10:55,138,821...55,143,272
Ensembl chr10:54,640,024...54,644,656

G

elongator acetyltransferase complex subunit 5

ClinVar Annotator: match by term: Common variable immunodeficiency

NCBI chr10:55,191,223...55,202,949
Ensembl chr10:54,692,530...54,704,923

G

F-box protein 39

ClinVar Annotator: match by term: Common variable immunodeficiency

NCBI chr10:57,428,259...57,433,468
Ensembl chr10:56,932,297...56,934,906

G

Fc gamma receptor 2A

protein:decreased expression:blood, monocyte

RGD

NCBI chr13:85,813,516...85,830,269
Ensembl chr13:83,280,784...83,295,967

G

fibroblast growth factor 11

ClinVar Annotator: match by term: Common variable immunodeficiency

NCBI chr10:55,015,232...55,020,773
Ensembl chr10:54,517,077...54,522,062

G

FMR1 autosomal homolog 2

ClinVar Annotator: match by term: Common variable immunodeficiency

NCBI chr10:54,849,345...54,869,713
Ensembl chr10:54,350,131...54,370,964

G

GABA type A receptor-associated protein

ClinVar Annotator: match by term: Common variable immunodeficiency

NCBI chr10:55,213,465...55,216,787
Ensembl chr10:54,714,198...54,717,765

G

G protein pathway suppressor 2

ClinVar Annotator: match by term: Common variable immunodeficiency

NCBI chr10:55,136,043...55,139,106
Ensembl chr10:54,637,455...54,640,650

G

guanylate cyclase 2E

ClinVar Annotator: match by term: Common variable immunodeficiency

NCBI chr10:54,453,753...54,478,639
Ensembl chr10:53,959,010...53,974,067

G

hes family bHLH transcription factor 7

ClinVar Annotator: match by term: Common variable immunodeficiency

NCBI chr10:54,322,971...54,327,776
Ensembl chr10:53,825,574...53,828,097

G

inducible T-cell co-stimulator

CTD Direct Evidence: marker/mechanism

NCBI chr 9:69,862,042...69,900,864
Ensembl chr 9:62,383,832...62,405,672

G

inhibitor of nuclear factor kappa B kinase regulatory subunit gamma

ClinVar Annotator: match by term: Common variable agammaglobulinemia

PMID:11590134 PMID:15229184 PMID:20529958 PMID:25741868 PMID:28993958

NCBI chr X:157,358,279...157,397,563
Ensembl chr X:152,216,596...152,239,499

G

IKAROS family zinc finger 1

CTD Direct Evidence: marker/mechanism

NCBI chr14:90,468,696...90,556,522
Ensembl chr14:86,255,065...86,342,416

G

interleukin 21

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: IL21 DEFICIENCY

PMID:24033266 PMID:24746753 PMID:25741868 PMID:28492532

NCBI chr 2:122,045,240...122,055,142
Ensembl chr 2:120,119,444...120,126,996

G

interleukin 21 receptor

DNA:SNPs:exons:

RGD

NCBI chr 1:189,598,682...189,626,340
Ensembl chr 1:180,168,097...180,195,522

G

potassium voltage-gated channel subfamily A regulatory beta subunit 3

ClinVar Annotator: match by term: Common variable immunodeficiency

NCBI chr10:54,546,638...54,555,209
Ensembl chr10:54,047,825...54,054,174

G

potassium channel tetramerization domain containing 11

ClinVar Annotator: match by term: Common variable immunodeficiency

NCBI chr10:55,101,292...55,103,455
Ensembl chr10:54,599,754...54,604,760

G

lysine demethylase 6B

ClinVar Annotator: match by term: Common variable immunodeficiency

NCBI chr10:54,619,520...54,641,014
Ensembl chr10:54,121,848...54,130,794

G

mannosidase beta

ClinVar Annotator: match by term: Common variable immunodeficiency

NCBI chr 2:226,583,968...226,676,520
Ensembl chr 2:223,910,432...224,002,983

G

mannose binding lectin 2

DNA:missense mutations:exon:p.R52C, p.G54N, p.G57E (human)

RGD

NCBI chr 1:237,429,873...237,465,567

G

microRNA 195

ClinVar Annotator: match by term: Common variable immunodeficiency

NCBI chr10:55,450,495...55,450,581
Ensembl chr10:54,951,838...54,951,924

G

mannose-P-dolichol utilization defect 1

ClinVar Annotator: match by term: Common variable immunodeficiency

NCBI chr10:54,873,467...54,880,536
Ensembl chr10:54,374,725...54,380,447

G

membrane spanning 4-domains A1

CTD Direct Evidence: marker/mechanism

NCBI chr 1:217,331,274...217,351,934
Ensembl chr 1:207,906,374...207,918,512

G

N(alpha)-acetyltransferase 38, NatC auxiliary subunit

ClinVar Annotator: match by term: Common variable immunodeficiency

NCBI chr10:54,588,304...54,617,715
Ensembl chr10:54,117,163...54,119,494

G

neuralized E3 ubiquitin protein ligase 4

ClinVar Annotator: match by term: Common variable immunodeficiency

NCBI chr10:55,123,471...55,135,971
Ensembl chr10:54,625,642...54,637,258

G

nuclear factor kappa B subunit 1

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Common variable immunodeficiency

PMID:16199547 PMID:25741868 PMID:26279205 PMID:28492532 PMID:29477724 More...

NCBI chr 2:226,689,745...226,805,897
Ensembl chr 2:224,016,214...224,110,404

G

nuclear factor kappa B subunit 2

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Common variable immunodeficiency

CTD
ClinVar
MouseDO

PMID:24140114 PMID:24702956 PMID:25524009 PMID:25605273 PMID:25741868 More...

NCBI chr 1:255,106,010...255,114,649
Ensembl chr 1:245,165,950...245,173,213

G

neuroligin 2

ClinVar Annotator: match by term: Common variable immunodeficiency

NCBI chr10:55,042,175...55,056,578
Ensembl chr10:54,544,588...54,558,434

G

platelet and endothelial cell adhesion molecule 1

protein:decreased expression:T cell (human)

RGD

NCBI chr10:92,090,263...92,152,002
Ensembl chr10:91,590,521...91,652,116

G

period circadian regulator 1

ClinVar Annotator: match by term: Common variable immunodeficiency

NCBI chr10:54,299,002...54,313,804
Ensembl chr10:53,805,535...53,814,431

G

PHD finger protein 23

ClinVar Annotator: match by term: Common variable immunodeficiency

NCBI chr10:55,217,351...55,221,471
Ensembl chr10:54,717,724...54,722,782

G

phospholipid scramblase 3

ClinVar Annotator: match by term: Common variable immunodeficiency

NCBI chr10:55,064,349...55,070,120
Ensembl chr10:54,566,873...54,578,709

G

RNA polymerase II subunit A

ClinVar Annotator: match by term: Common variable immunodeficiency

NCBI chr10:54,951,162...54,977,179
Ensembl chr10:54,452,441...54,478,455

G

pleckstrin and Sec7 domain containing

ClinVar Annotator: match by term: Common variable immunodeficiency

PMID:24140114 PMID:24702956 PMID:25524009 PMID:25605273 PMID:25741868 More...

NCBI chr 1:255,114,703...255,130,151
Ensembl chr 1:245,173,279...245,189,356

G

recombination activating 2

ClinVar Annotator: match by term: Common variable immunodeficiency

PMID:18463379 PMID:21664875 PMID:24331380 PMID:24996264 PMID:25741868 More...

NCBI chr 3:108,357,399...108,367,186
Ensembl chr 3:87,902,238...87,911,066

G

ribonuclease K

ClinVar Annotator: match by term: Common variable immunodeficiency

NCBI chr10:55,453,561...55,455,279
Ensembl chr10:54,951,991...54,956,601

G

RT1 class II, locus Bb

DNA:polymorphisms (human)

RGD

NCBI chr20:4,598,475...4,604,118
Ensembl chr20:4,596,559...4,607,597

G

spermidine/spermine N1-acetyltransferase family member 2

ClinVar Annotator: match by term: Common variable immunodeficiency

NCBI chr10:54,839,531...54,841,651
Ensembl chr10:54,340,372...54,343,224

G

SUMO specific peptidase 3

ClinVar Annotator: match by term: Common variable immunodeficiency

NCBI chr10:54,889,445...54,898,359
Ensembl chr10:54,390,694...54,399,593

G

sex hormone binding globulin

ClinVar Annotator: match by term: Common variable immunodeficiency

NCBI chr10:54,831,716...54,849,162
Ensembl chr10:54,332,941...54,351,057

G

solute carrier family 13 member 5

ClinVar Annotator: match by term: Common variable immunodeficiency

NCBI chr10:57,364,806...57,389,500
Ensembl chr10:56,866,249...56,890,945

G

solute carrier family 16, member 11

ClinVar Annotator: match by term: Common variable immunodeficiency

NCBI chr10:55,427,773...55,431,678
Ensembl chr10:54,927,725...54,942,915

G

solute carrier family 16, member 13

ClinVar Annotator: match by term: Common variable immunodeficiency

NCBI chr10:55,424,633...55,436,555
Ensembl chr10:54,926,760...54,937,788

G

solute carrier family 2 member 4

ClinVar Annotator: match by term: Common variable immunodeficiency

NCBI chr10:55,164,721...55,170,289
Ensembl chr10:54,666,015...54,671,565

G

solute carrier family 35, member G3

ClinVar Annotator: match by term: Common variable immunodeficiency

NCBI chr10:54,978,450...54,980,505
Ensembl chr10:54,479,770...54,481,748

G

SRY-box transcription factor 15

ClinVar Annotator: match by term: Common variable immunodeficiency

NCBI chr10:54,871,793...54,873,497
Ensembl chr10:54,372,403...54,376,591

G

spermatid maturation 1

ClinVar Annotator: match by term: Common variable immunodeficiency

NCBI chr10:55,040,178...55,041,479
Ensembl chr10:54,541,471...54,546,131

G

SPEM family member 2

ClinVar Annotator: match by term: Common variable immunodeficiency

NCBI chr10:55,035,892...55,037,790
Ensembl chr10:54,537,174...54,539,058

G

tektin 1

ClinVar Annotator: match by term: Common variable immunodeficiency

NCBI chr10:57,450,712...57,479,121
Ensembl chr10:56,952,167...56,980,572

G

transmembrane protein 102

ClinVar Annotator: match by term: Common variable immunodeficiency

NCBI chr10:55,022,625...55,025,676
Ensembl chr10:54,523,585...54,525,990

G

transmembrane protein 107

ClinVar Annotator: match by term: Common variable immunodeficiency

NCBI chr10:54,268,218...54,273,520
Ensembl chr10:53,771,784...53,774,676

G

transmembrane protein 256

ClinVar Annotator: match by term: Common variable immunodeficiency

NCBI chr10:55,056,959...55,058,869
Ensembl chr10:54,555,360...54,560,120

G

transmembrane protein 88

ClinVar Annotator: match by term: Common variable immunodeficiency

NCBI chr10:54,617,554...54,619,309
Ensembl chr10:54,118,752...54,120,447

G

transmembrane protein 95

ClinVar Annotator: match by term: Common variable immunodeficiency

NCBI chr10:55,098,518...55,100,463
Ensembl chr10:54,599,800...54,601,790

G

TNF receptor superfamily member 13B

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Common Variable Immune Deficiency, Dominant | ClinVar Annotator: match by term: Common variable immunodeficiency | ClinVar Annotator: match by term: Immunoglobulin deficiency, late-onset

PMID:8072530 PMID:16007086 PMID:16007087 PMID:16199547 PMID:16299065 More...

NCBI chr10:46,301,336...46,322,460
Ensembl chr10:45,801,860...45,822,987

G

TNF receptor superfamily member 13C

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Common Variable Immune Deficiency, Recessive

NCBI chr 7:115,616,139...115,618,647
Ensembl chr 7:113,736,055...113,738,517

G

TNF superfamily member 12

ClinVar Annotator: match by term: Common variable agammaglobulinemia | ClinVar Annotator: match by term: Common variable immunodeficiency

PMID:9536098 PMID:17576681 PMID:23493554 PMID:25741868 PMID:28492532

NCBI chr10:54,902,616...54,912,628
Ensembl chr10:54,403,870...54,413,213

G

TNF superfamily member 13

ClinVar Annotator: match by term: Common variable immunodeficiency

NCBI chr10:54,898,805...54,901,815
Ensembl chr10:54,400,065...54,403,042

G

tyrosine kinase, non-receptor, 1

ClinVar Annotator: match by term: Common variable immunodeficiency

NCBI chr10:55,070,362...55,084,383
Ensembl chr10:54,571,117...54,579,940

G

tumor protein p53

ClinVar Annotator: match by term: Common variable immunodeficiency

NCBI chr10:54,798,871...54,810,300
Ensembl chr10:54,300,048...54,311,524

G

trafficking protein particle complex subunit 1

ClinVar Annotator: match by term: Common variable immunodeficiency

NCBI chr10:54,544,406...54,545,992
Ensembl chr10:54,045,537...54,047,331

G

tetratricopeptide repeat domain 7A

ClinVar Annotator: match by term: Common variable immunodeficiency

PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 PMID:32499645 More...

NCBI chr 6:12,912,822...13,015,374
Ensembl chr 6:7,159,061...7,261,892

G

vesicle-associated membrane protein 2

ClinVar Annotator: match by term: Common variable immunodeficiency

NCBI chr10:54,292,423...54,296,657
Ensembl chr10:53,793,923...53,797,809

G

WD repeat containing, antisense to TP53

ClinVar Annotator: match by term: Common variable immunodeficiency

NCBI chr10:54,780,873...54,797,919
Ensembl chr10:54,282,105...54,298,929

G

XIAP associated factor 1

ClinVar Annotator: match by term: Common variable immunodeficiency

NCBI chr10:57,415,935...57,428,348
Ensembl chr10:56,917,121...56,929,770

G

Y box binding protein 2

ClinVar Annotator: match by term: Common variable immunodeficiency

NCBI chr10:55,158,420...55,164,077
Ensembl chr10:54,659,719...54,665,371

G

zinc finger and BTB domain containing 4

ClinVar Annotator: match by term: Common variable immunodeficiency

NCBI chr10:54,979,421...55,000,215
Ensembl chr10:54,485,071...54,501,492

common variable immunodeficiency 1

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

abl-interactor 2

ClinVar Annotator: match by term: Immunodeficiency, common variable, 1

PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 More...

NCBI chr 9:69,321,072...69,490,630
Ensembl chr 9:61,827,139...61,905,699

G

alsin Rho guanine nucleotide exchange factor ALS2

ClinVar Annotator: match by term: Immunodeficiency, common variable, 1

PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 More...

NCBI chr 9:68,107,310...68,180,192
Ensembl chr 9:60,613,167...60,670,737

G

bone morphogenetic protein receptor type 2

ClinVar Annotator: match by term: Immunodeficiency, common variable, 1

PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 More...

NCBI chr 9:68,685,942...68,801,353
Ensembl chr 9:61,190,566...61,301,809

G

C2 calcium dependent domain containing 6

ClinVar Annotator: match by term: Immunodeficiency, common variable, 1

PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 More...

NCBI chr 9:67,929,069...68,024,993
Ensembl chr 9:60,434,925...60,530,806

G

calcium responsive transcription factor

ClinVar Annotator: match by term: Immunodeficiency, common variable, 1

PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 More...

NCBI chr 9:68,996,419...69,046,480
Ensembl chr 9:61,506,956...61,550,462

G

caspase 8

ClinVar Annotator: match by term: Immunodeficiency, common variable, 1

PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 More...

NCBI chr 9:67,747,109...67,806,699
Ensembl chr 9:60,264,075...60,312,542

G

Cd28 molecule

ClinVar Annotator: match by term: Immunodeficiency, common variable, 1

PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 More...

NCBI chr 9:69,660,316...69,689,192
Ensembl chr 9:62,166,192...62,194,685

G

cyclin-dependent kinase 15

ClinVar Annotator: match by term: Immunodeficiency, common variable, 1

PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 More...

NCBI chr 9:68,205,759...68,299,218
Ensembl chr 9:60,711,715...60,802,777

G

CASP8 and FADD-like apoptosis regulator

ClinVar Annotator: match by term: Immunodeficiency, common variable, 1

PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 More...

NCBI chr 9:67,679,502...67,747,226
Ensembl chr 9:60,185,452...60,237,034

G

cytotoxic T-lymphocyte-associated protein 4

ClinVar Annotator: match by term: Immunodeficiency, common variable, 1

PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 More...

NCBI chr 9:69,812,859...69,819,959
Ensembl chr 9:62,319,312...62,324,963

G

cytochrome P450, family 20, subfamily a, polypeptide 1

ClinVar Annotator: match by term: Immunodeficiency, common variable, 1

PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 More...

NCBI chr 9:69,249,841...69,299,146
Ensembl chr 9:61,755,790...61,805,123

G

family with sequence similarity 117, member B

ClinVar Annotator: match by term: Immunodeficiency, common variable, 1

PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 More...

NCBI chr 9:68,834,334...68,902,543
Ensembl chr 9:61,340,249...61,408,483

G

flagellum associated containing coiled-coil domains 1

ClinVar Annotator: match by term: Immunodeficiency, common variable, 1

PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 More...

NCBI chr 9:67,809,731...67,837,793
Ensembl chr 9:60,315,582...60,343,648

G

frizzled class receptor 7

ClinVar Annotator: match by term: Immunodeficiency, common variable, 1

PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 More...

NCBI chr 9:68,425,538...68,428,357
Ensembl chr 9:60,930,875...60,935,781

G

islet cell autoantigen 1-like

ClinVar Annotator: match by term: Immunodeficiency, common variable, 1

PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 More...

NCBI chr 9:68,906,148...68,964,078
Ensembl chr 9:61,412,091...61,470,134

G

inducible T-cell co-stimulator

ClinVar Annotator: match by term: Immunodeficiency, common variable, 1

PMID:9536098 PMID:11343122 PMID:11956294 PMID:12353035 PMID:12577056 More...

NCBI chr 9:69,862,042...69,900,864
Ensembl chr 9:62,383,832...62,405,672

G

MAGUK p55 scaffold protein 4

ClinVar Annotator: match by term: Immunodeficiency, common variable, 1

PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 More...

NCBI chr 9:68,063,867...68,103,050
Ensembl chr 9:60,569,734...60,611,797

G

neurobeachin-like 1

ClinVar Annotator: match by term: Immunodeficiency, common variable, 1

PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 More...

NCBI chr 9:69,069,326...69,237,932
Ensembl chr 9:61,575,356...61,736,750

G

NADH:ubiquinone oxidoreductase subunit B3

ClinVar Annotator: match by term: Immunodeficiency, common variable, 1

PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 More...

NCBI chr 9:67,623,417...67,633,629
Ensembl chr 9:60,129,154...60,139,446

G

nuclear factor kappa B subunit 2

ClinVar Annotator: match by term: Immunodeficiency, common variable, 1

PMID:24140114 PMID:28492532

NCBI chr 1:255,106,010...255,114,649
Ensembl chr 1:245,165,950...245,173,213

G

NOP58 ribonucleoprotein

ClinVar Annotator: match by term: Immunodeficiency, common variable, 1

PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 More...

NCBI chr 9:68,614,992...68,638,911
Ensembl chr 9:61,120,929...61,144,810

G

Ras association (RalGDS/AF-6) and pleckstrin homology domains 1

ClinVar Annotator: match by term: Immunodeficiency, common variable, 1

PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 More...

NCBI chr 9:69,397,272...69,484,174
Ensembl chr 9:61,907,758...61,961,209

G

STE20 related adaptor beta

ClinVar Annotator: match by term: Immunodeficiency, common variable, 1

PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 More...

NCBI chr 9:67,908,277...67,927,224
Ensembl chr 9:60,414,182...60,433,084

G

small ubiquitin-like modifier 1

ClinVar Annotator: match by term: Immunodeficiency, common variable, 1

PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 More...

NCBI chr 9:68,572,901...68,602,803
Ensembl chr 9:61,077,435...61,108,761

G

transmembrane protein 237

ClinVar Annotator: match by term: Immunodeficiency, common variable, 1

PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 More...

NCBI chr 9:68,027,481...68,066,731
Ensembl chr 9:60,535,233...60,572,567

G

TNF receptor superfamily member 13B

ClinVar Annotator: match by term: ANTIBODY DEFICIENCY DUE TO ICOS DEFECT | ClinVar Annotator: match by term: Immunodeficiency, common variable, 1

PMID:16007086 PMID:16007087 PMID:16630947 PMID:16782407 PMID:17192819 More...

NCBI chr10:46,301,336...46,322,460
Ensembl chr10:45,801,860...45,822,987

G

trafficking kinesin protein 2

ClinVar Annotator: match by term: Immunodeficiency, common variable, 1

PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 More...

NCBI chr 9:67,842,680...67,909,786
Ensembl chr 9:60,350,012...60,413,996

G

WD repeat domain 12

ClinVar Annotator: match by term: Immunodeficiency, common variable, 1

PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 More...

NCBI chr 9:68,969,547...68,996,811
Ensembl chr 9:61,475,517...61,502,469

common variable immunodeficiency 10

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

nuclear factor kappa B subunit 2

ClinVar Annotator: match by term: DEFICIT IN ANTERIOR PITUITARY FUNCTION AND VARIABLE IMMUNODEFICIENCY | ClinVar Annotator: match by term: Immunodeficiency, common variable, 10

PMID:9536098 PMID:16199547 PMID:16303288 PMID:17576681 PMID:22013103 More...

NCBI chr 1:255,106,010...255,114,649
Ensembl chr 1:245,165,950...245,173,213

G

pleckstrin and Sec7 domain containing

ClinVar Annotator: match by term: Immunodeficiency, common variable, 10

PMID:24140114 PMID:24702956 PMID:25524009 PMID:25605273 PMID:25741868 More...

NCBI chr 1:255,114,703...255,130,151
Ensembl chr 1:245,173,279...245,189,356

G

stromal interaction molecule 1

ClinVar Annotator: match by term: Immunodeficiency, common variable, 10

PMID:25741868 PMID:28492532

NCBI chr 1:166,067,450...166,230,733
Ensembl chr 1:156,656,013...156,818,363

common variable immunodeficiency 11

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

interleukin 21

ClinVar Annotator: match by term: Common variable immunodeficiency 11

PMID:24033266 PMID:24746753 PMID:25741868 PMID:28492532

NCBI chr 2:122,045,240...122,055,142
Ensembl chr 2:120,119,444...120,126,996

common variable immunodeficiency 12

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

nuclear factor kappa B subunit 1

ClinVar Annotator: match by term: Immunodeficiency, common variable, 12 | ClinVar Annotator: match by term: NFKB1-related condition

PMID:9383370 PMID:11583829 PMID:16199547 PMID:16639407 PMID:25741868 More...

NCBI chr 2:226,689,745...226,805,897
Ensembl chr 2:224,016,214...224,110,404

G

NFKB inhibitor delta

ClinVar Annotator: match by term: Immunodeficiency, common variable, 12

NCBI chr 1:94,808,459...94,824,726
Ensembl chr 1:85,680,861...85,690,447

common variable immunodeficiency 13

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

IKAROS family zinc finger 1

ClinVar Annotator: match by term: IKZF1-related condition | ClinVar Annotator: match by term: Immunodeficiency, common variable, 13

PMID:21548011 PMID:25741868 PMID:26981933 PMID:27939403 PMID:27993330 More...

NCBI chr14:90,468,696...90,556,522
Ensembl chr14:86,255,065...86,342,416

common variable immunodeficiency 14

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

AT-rich interaction domain 4B

ClinVar Annotator: match by term: Immunodeficiency, common variable, 14

NCBI chr17:55,833,908...55,958,382
Ensembl chr17:51,138,535...51,262,906

G

beta-1,3-N-acetylgalactosaminyltransferase 2

ClinVar Annotator: match by term: Immunodeficiency, common variable, 14

NCBI chr17:56,030,409...56,072,952
Ensembl chr17:51,334,921...51,377,469

G

cytochrome c oxidase assembly factor 6

ClinVar Annotator: match by term: Immunodeficiency, common variable, 14

NCBI chr19:71,293,066...71,295,668
Ensembl chr19:54,395,742...54,399,407

G

geranylgeranyl diphosphate synthase 1

ClinVar Annotator: match by term: Immunodeficiency, common variable, 14

NCBI chr17:55,958,750...55,982,762
Ensembl chr17:51,263,263...51,276,220

G

G protein subunit gamma 4

ClinVar Annotator: match by term: Immunodeficiency, common variable, 14

NCBI chr17:93,432,791...93,481,709
Ensembl chr17:86,449,022...86,495,254

G

interferon regulatory factor 2 binding protein 2

ClinVar Annotator: match by term: IRF2BP2-related condition | ClinVar Annotator: match by term: Immunodeficiency, common variable, 14

PMID:24033266 PMID:25741868 PMID:27016798 PMID:28492532 PMID:35538558 More...

NCBI chr19:71,456,689...71,462,368
Ensembl chr19:54,560,128...54,566,642

G

potassium two pore domain channel subfamily K member 1

ClinVar Annotator: match by term: Immunodeficiency, common variable, 14

NCBI chr19:70,856,985...70,895,053
Ensembl chr19:53,959,657...53,997,724

G

small nucleolar RNA SNORA14

ClinVar Annotator: match by term: Immunodeficiency, common variable, 14

NCBI chr19:71,831,457...71,831,590
Ensembl chr19:54,934,225...54,934,358

G

lysosomal trafficking regulator

ClinVar Annotator: match by term: Immunodeficiency, common variable, 14

NCBI chr17:93,225,509...93,427,650
Ensembl chr17:86,241,384...86,443,480

G

nidogen 1

ClinVar Annotator: match by term: Immunodeficiency, common variable, 14

NCBI chr17:93,069,013...93,142,416
Ensembl chr17:86,085,077...86,158,267

G

RNA binding motif protein 34

ClinVar Annotator: match by term: Immunodeficiency, common variable, 14

NCBI chr19:71,832,189...71,854,038
Ensembl chr19:54,936,531...54,956,715

G

solute carrier family 35, member F3

ClinVar Annotator: match by term: Immunodeficiency, common variable, 14

NCBI chr19:71,000,144...71,270,829
Ensembl chr19:54,103,120...54,372,839

G

TAR (HIV-1) RNA binding protein 1

ClinVar Annotator: match by term: Immunodeficiency, common variable, 14

NCBI chr19:71,295,588...71,346,595
Ensembl chr19:54,398,253...54,449,261

G

tubulin folding cofactor E

ClinVar Annotator: match by term: Immunodeficiency, common variable, 14

NCBI chr17:55,983,627...56,031,578
Ensembl chr17:51,290,202...51,336,089

G

translocase of outer mitochondrial membrane 20

ClinVar Annotator: match by term: Immunodeficiency, common variable, 14

NCBI chr19:71,822,429...71,832,420
Ensembl chr19:54,923,402...54,935,198

Common Variable Immunodeficiency 15

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

RuvB-like AAA ATPase 1

ClinVar Annotator: match by term: Immunodeficiency, common variable, 15

PMID:25741868 PMID:28782633

NCBI chr 4:122,489,754...122,524,666
Ensembl chr 4:120,932,417...121,029,384

G

SEC61 translocon subunit alpha 1

ClinVar Annotator: match by term: Immunodeficiency, common variable, 15

PMID:25741868 PMID:28782633

NCBI chr 4:122,530,785...122,545,141
Ensembl chr 4:120,960,626...120,987,925

G

telomerase reverse transcriptase

ClinVar Annotator: match by term: Decreased circulating antibody concentration

PMID:25346280 PMID:25741868 PMID:28492532 PMID:30523342 PMID:30791107

NCBI chr 1:31,465,766...31,488,650
Ensembl chr 1:29,637,506...29,659,561

common variable immunodeficiency 2

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

aldehyde dehydrogenase 3 family, member A2

ClinVar Annotator: match by term: Immunodeficiency, common variable, 2

NCBI chr10:46,427,789...46,448,449
Ensembl chr10:45,908,524...45,949,281

G

alkB homolog 5, RNA demethylase

ClinVar Annotator: match by term: Immunodeficiency, common variable, 2

NCBI chr10:45,844,411...45,865,853
Ensembl chr10:45,343,395...45,366,331

G

ATP synthase mitochondrial F1 complex assembly factor 2

ClinVar Annotator: match by term: Immunodeficiency, common variable, 2

NCBI chr10:45,705,157...45,721,282
Ensembl chr10:45,197,441...45,221,026

G

B9 domain containing 1

ClinVar Annotator: match by term: Immunodeficiency, common variable, 2

NCBI chr10:46,685,410...46,698,580
Ensembl chr10:46,186,691...46,196,008

G

CD19 molecule

ClinVar Annotator: match by term: Immunodeficiency, common variable, 2

PMID:25741868 PMID:28492532

NCBI chr 1:190,417,853...190,424,494
Ensembl chr 1:180,987,286...180,993,975

G

COP9 signalosome subunit 3

ClinVar Annotator: match by term: Immunodeficiency, common variable, 2

NCBI chr10:45,117,664...45,151,868
Ensembl chr10:44,618,115...44,641,597

G

complement C3d receptor 2

ClinVar Annotator: match by term: HYPOGAMMAGLOBULINEMIA DUE TO TACI DEFICIENCY | ClinVar Annotator: match by term: Immunodeficiency, common variable, 2

PMID:25741868 PMID:28492532

NCBI chr13:109,207,034...109,244,980
Ensembl chr13:106,685,413...106,716,235

G

dynein regulatory complex subunit 3

ClinVar Annotator: match by term: Immunodeficiency, common variable, 2

NCBI chr10:45,620,045...45,698,902
Ensembl chr10:45,157,354...45,199,369

G

developmentally regulated GTP binding protein 2

ClinVar Annotator: match by term: Immunodeficiency, common variable, 2

NCBI chr10:45,755,072...45,769,493
Ensembl chr10:45,255,507...45,269,969

G

epsin 2

ClinVar Annotator: match by term: Immunodeficiency, common variable, 2

NCBI chr10:46,697,238...46,759,128
Ensembl chr10:46,197,785...46,259,642

G

family with sequence similarity 83, member G

ClinVar Annotator: match by term: Immunodeficiency, common variable, 2

NCBI chr10:46,862,983...46,887,499
Ensembl chr10:46,363,051...46,388,019

G

F-box and WD repeat domain containing 10

ClinVar Annotator: match by term: Immunodeficiency, common variable, 2

NCBI chr10:48,012,555...48,051,136
Ensembl chr10:47,486,297...47,551,907

G

folliculin

ClinVar Annotator: match by term: Immunodeficiency, common variable, 2

NCBI chr10:45,088,164...45,107,581
Ensembl chr10:44,588,624...44,607,769

G

FLII, actin remodeling protein

ClinVar Annotator: match by term: Immunodeficiency, common variable, 2

NCBI chr10:45,893,566...45,907,547
Ensembl chr10:45,394,032...45,407,970

G

GID complex subunit 4

ClinVar Annotator: match by term: Immunodeficiency, common variable, 2

NCBI chr10:45,721,055...45,747,132
Ensembl chr10:45,245,754...45,247,621
Ensembl chr10:45,245,754...45,247,621

G

GRB2-related adaptor protein

ClinVar Annotator: match by term: Immunodeficiency, common variable, 2

NCBI chr10:46,798,423...46,851,524
Ensembl chr10:46,332,909...46,352,056

G

LLGL scribble cell polarity complex component 1

ClinVar Annotator: match by term: Immunodeficiency, common variable, 2

NCBI chr10:45,878,936...45,893,609
Ensembl chr10:45,379,515...45,394,094

G

mitogen-activated protein kinase 7

ClinVar Annotator: match by term: Immunodeficiency, common variable, 2

NCBI chr10:46,669,721...46,675,768
Ensembl chr10:46,170,167...46,176,267

G

mediator complex subunit 9

ClinVar Annotator: match by term: Immunodeficiency, common variable, 2

NCBI chr10:45,250,229...45,264,988
Ensembl chr10:44,750,698...44,765,464

G

microfibril associated protein 4

ClinVar Annotator: match by term: Immunodeficiency, common variable, 2

NCBI chr10:46,666,552...46,669,613
Ensembl chr10:46,167,217...46,170,155

G

mitochondrial elongation factor 2

ClinVar Annotator: match by term: Immunodeficiency, common variable, 2

NCBI chr10:45,907,576...45,913,658
Ensembl chr10:45,408,082...45,414,144

G

myosin phosphatase Rho interacting protein

ClinVar Annotator: match by term: Immunodeficiency, common variable, 2

NCBI chr10:44,953,472...45,073,388
Ensembl chr10:44,453,929...44,569,118

G

myosin XVA

ClinVar Annotator: match by term: Immunodeficiency, common variable, 2

NCBI chr10:45,776,907...45,835,473
Ensembl chr10:45,278,737...45,335,340

G

5',3'-nucleotidase, mitochondrial

ClinVar Annotator: match by term: Immunodeficiency, common variable, 2

NCBI chr10:45,151,902...45,178,687
Ensembl chr10:44,652,975...44,679,150

G

phosphatidylethanolamine N-methyltransferase

ClinVar Annotator: match by term: Immunodeficiency, common variable, 2

NCBI chr10:45,275,434...45,349,651
Ensembl chr10:44,775,911...44,850,013

G

phospholipase D family, member 6

ClinVar Annotator: match by term: Immunodeficiency, common variable, 2

NCBI chr10:45,078,081...45,080,732
Ensembl chr10:44,577,675...44,581,077

G

phosphoribosyl pyrophosphate synthetase-associated protein 2

ClinVar Annotator: match by term: Immunodeficiency, common variable, 2

NCBI chr10:46,910,282...46,945,401
Ensembl chr10:46,410,835...46,445,849

G

retinoic acid induced 1

ClinVar Annotator: match by term: Immunodeficiency, common variable, 2

NCBI chr10:45,412,748...45,507,747
Ensembl chr10:44,947,909...45,008,232

G

ras related dexamethasone induced 1

ClinVar Annotator: match by term: Immunodeficiency, common variable, 2

NCBI chr10:45,265,975...45,275,279
Ensembl chr10:44,766,455...44,768,186

G

ring finger protein 112

ClinVar Annotator: match by term: Immunodeficiency, common variable, 2

NCBI chr10:46,620,602...46,655,745
Ensembl chr10:46,121,148...46,126,699

G

serine hydroxymethyltransferase 1

ClinVar Annotator: match by term: Immunodeficiency, common variable, 2

NCBI chr10:45,968,959...45,990,341
Ensembl chr10:45,468,700...45,497,820

G

solute carrier family 47 member 1

ClinVar Annotator: match by term: Immunodeficiency, common variable, 2

NCBI chr10:46,533,580...46,590,128
Ensembl chr10:46,034,122...46,087,637

G

solute carrier family 5 member 10

ClinVar Annotator: match by term: Immunodeficiency, common variable, 2

NCBI chr10:46,851,527...46,898,460
Ensembl chr10:46,352,061...46,399,811

G

SMCR8-C9orf72 complex subunit

ClinVar Annotator: match by term: Immunodeficiency, common variable, 2

NCBI chr10:45,957,146...45,968,388
Ensembl chr10:45,457,605...45,468,876

G

sterol regulatory element binding transcription factor 1

ClinVar Annotator: match by term: Immunodeficiency, common variable, 2

NCBI chr10:45,507,152...45,529,164
Ensembl chr10:45,007,637...45,029,650

G

TNF receptor superfamily member 13B

ClinVar Annotator: match by term: HYPOGAMMAGLOBULINEMIA DUE TO TACI DEFICIENCY | ClinVar Annotator: match by term: Immunodeficiency, common variable, 2

PMID:8072530 PMID:9536098 PMID:16007086 PMID:16007087 PMID:16199547 More...

NCBI chr10:46,301,336...46,322,460
Ensembl chr10:45,801,860...45,822,987

G

TNF receptor superfamily member 13C

ClinVar Annotator: match by term: Immunodeficiency, common variable, 2

PMID:25741868 PMID:28492532

NCBI chr 7:115,616,139...115,618,647
Ensembl chr 7:113,736,055...113,738,517

G

target of myb1 like 2 membrane trafficking protein

ClinVar Annotator: match by term: Immunodeficiency, common variable, 2

NCBI chr10:45,535,548...45,657,528
Ensembl chr10:45,036,035...45,158,032

G

DNA topoisomerase III alpha

ClinVar Annotator: match by term: Immunodeficiency, common variable, 2

NCBI chr10:45,915,625...45,956,856
Ensembl chr10:45,419,217...45,457,559

G

trans-golgi network vesicle protein 23 homolog B

ClinVar Annotator: match by term: Immunodeficiency, common variable, 2

NCBI chr10:48,053,005...48,067,326
Ensembl chr10:47,553,831...47,565,203

common variable immunodeficiency 3

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

CD19 molecule

ClinVar Annotator: match by term: CD19-related condition | ClinVar Annotator: match by term: Immunodeficiency, common variable, 3

PMID:16672701 PMID:17882224 PMID:21159371 PMID:21330302 PMID:24033266 More...

NCBI chr 1:190,417,853...190,424,494
Ensembl chr 1:180,987,286...180,993,975

common variable immunodeficiency 4

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

alpha 1,4-galactosyltransferase

ClinVar Annotator: match by term: Immunodeficiency, common variable, 4

NCBI chr 7:116,248,571...116,272,917
Ensembl chr 7:114,368,276...114,396,071

G

aconitase 2

ClinVar Annotator: match by term: Immunodeficiency, common variable, 4

PMID:19666484 PMID:28492532

NCBI chr 7:115,265,816...115,308,931
Ensembl chr 7:113,385,646...113,428,261

G

coiled-coil domain containing 134

ClinVar Annotator: match by term: Immunodeficiency, common variable, 4

PMID:19666484 PMID:28492532

NCBI chr 7:115,526,537...115,539,155
Ensembl chr 7:113,644,639...113,659,050

G

centromere protein M

ClinVar Annotator: match by term: Immunodeficiency, common variable, 4

PMID:19666484 PMID:28492532

NCBI chr 7:115,628,117...115,639,401
Ensembl chr 7:113,747,516...113,764,258

G

chondroadherin-like

ClinVar Annotator: match by term: Immunodeficiency, common variable, 4

NCBI chr 7:115,085,447...115,097,565
Ensembl chr 7:113,210,748...113,217,272

G

cold shock domain containing C2

ClinVar Annotator: match by term: Immunodeficiency, common variable, 4

PMID:19666484 PMID:28492532

NCBI chr 7:115,332,134...115,346,599
Ensembl chr 7:113,451,998...113,466,463

G

cytochrome b5 reductase 3

ClinVar Annotator: match by term: Immunodeficiency, common variable, 4

NCBI chr 7:116,186,729...116,204,290
Ensembl chr 7:114,306,685...114,324,298

G

cytochrome P450, family 2, subfamily d, polypeptide 4

ClinVar Annotator: match by term: Immunodeficiency, common variable, 4

NCBI chr 7:115,762,662...115,771,832
Ensembl chr 7:113,881,618...113,891,759

G

desumoylating isopeptidase 1

ClinVar Annotator: match by term: Immunodeficiency, common variable, 4

PMID:19666484 PMID:28492532

NCBI chr 7:115,401,613...115,422,974
Ensembl chr 7:113,519,980...113,542,845

G

E1A binding protein p300

ClinVar Annotator: match by term: Immunodeficiency, common variable, 4

NCBI chr 7:114,987,857...115,058,652
Ensembl chr 7:113,106,247...113,136,088
Ensembl chr 7:113,106,247...113,136,088

G

L3MBTL histone methyl-lysine binding protein 2

ClinVar Annotator: match by term: Immunodeficiency, common variable, 4

NCBI chr 7:115,066,427...115,087,625
Ensembl chr 7:113,186,370...113,207,489

G

meiotic double-stranded break formation protein 1

ClinVar Annotator: match by term: Immunodeficiency, common variable, 4

PMID:19666484 PMID:28492532

NCBI chr 7:115,470,256...115,523,618
Ensembl chr 7:113,590,142...113,643,511

G

microRNA 33

ClinVar Annotator: match by term: Immunodeficiency, common variable, 4

PMID:19666484 PMID:28492532

NCBI chr 7:115,593,952...115,594,020
Ensembl chr 7:113,713,855...113,713,923

G

alpha-N-acetylgalactosaminidase

ClinVar Annotator: match by term: Immunodeficiency, common variable, 4

PMID:19666484 PMID:28492532

NCBI chr 7:115,726,438...115,735,494
Ensembl chr 7:113,846,374...113,855,315

G

NADH:ubiquinone oxidoreductase subunit A6

ClinVar Annotator: match by term: Immunodeficiency, common variable, 4

NCBI chr 7:115,746,460...115,750,317
Ensembl chr 7:113,866,382...113,870,239

G

NFAT activating protein with ITAM motif 1

ClinVar Annotator: match by term: Immunodeficiency, common variable, 4

NCBI chr 7:116,019,383...116,055,628
Ensembl chr 7:114,139,345...114,175,442

G

PH domain containing endocytic trafficking adaptor 2

ClinVar Annotator: match by term: Immunodeficiency, common variable, 4

NCBI chr 7:115,735,499...115,741,988
Ensembl chr 7:113,857,249...113,861,871

G

PHD finger protein 5A

ClinVar Annotator: match by term: Immunodeficiency, common variable, 4

PMID:19666484 PMID:28492532

NCBI chr 7:115,258,609...115,265,174
Ensembl chr 7:113,378,471...113,385,460

G

phosphomannomutase 1

ClinVar Annotator: match by term: Immunodeficiency, common variable, 4

PMID:19666484 PMID:28492532

NCBI chr 7:115,346,767...115,357,137
Ensembl chr 7:113,466,632...113,477,022

G

DNA polymerase delta interacting protein 3

ClinVar Annotator: match by term: Immunodeficiency, common variable, 4

NCBI chr 7:116,154,892...116,183,319
Ensembl chr 7:114,275,085...114,303,271

G

RNA polymerase III subunit H

ClinVar Annotator: match by term: Immunodeficiency, common variable, 4

PMID:19666484 PMID:28492532

NCBI chr 7:115,309,571...115,319,881
Ensembl chr 7:113,429,451...113,439,778

G

RAN GTPase activating protein 1

ClinVar Annotator: match by term: Immunodeficiency, common variable, 4

PMID:19666484 PMID:28492532

NCBI chr 7:115,104,820...115,130,564
Ensembl chr 7:113,224,703...113,250,438

G

ring-box 1

ClinVar Annotator: match by term: Immunodeficiency, common variable, 4

NCBI chr 7:114,870,893...114,881,194
Ensembl chr 7:112,990,835...113,001,051

G

ribosomal RNA processing 7 homolog A

ClinVar Annotator: match by term: Immunodeficiency, common variable, 4

NCBI chr 7:116,142,976...116,152,874
Ensembl chr 7:114,256,472...114,272,817

G

septin 3

ClinVar Annotator: match by term: Immunodeficiency, common variable, 4

PMID:19666484 PMID:28492532

NCBI chr 7:115,659,414...115,691,173
Ensembl chr 7:113,783,095...113,811,087

G

serine hydrolase-like 2

ClinVar Annotator: match by term: Immunodeficiency, common variable, 4

NCBI chr 7:116,126,085...116,146,345
Ensembl chr 7:114,246,056...114,272,781

G

shisa family member 8

ClinVar Annotator: match by term: Immunodeficiency, common variable, 4

PMID:19666484 PMID:28492532

NCBI chr 7:115,602,503...115,607,953
Ensembl chr 7:113,722,408...113,727,858

G

single-pass membrane protein with aspartate-rich tail 1

ClinVar Annotator: match by term: Immunodeficiency, common variable, 4

NCBI chr 7:115,742,240...115,745,323
Ensembl chr 7:113,860,611...113,865,226

G

small integral membrane protein 45

ClinVar Annotator: match by term: Immunodeficiency, common variable, 4

PMID:19666484 PMID:28492532

NCBI chr 7:115,649,223...115,654,038
Ensembl chr 7:113,765,468...113,773,339

G

small nuclear ribonucleoprotein 13

ClinVar Annotator: match by term: Immunodeficiency, common variable, 4

PMID:19666484 PMID:28492532

NCBI chr 7:115,445,415...115,451,008
Ensembl chr 7:113,565,295...113,570,872
Ensembl chr 1:113,565,295...113,570,872

G

sterol regulatory element binding transcription factor 2

ClinVar Annotator: match by term: Immunodeficiency, common variable, 4

PMID:19666484 PMID:28492532

NCBI chr 7:115,542,774...115,600,945
Ensembl chr 7:113,663,202...113,720,848

G

transcription factor 20

ClinVar Annotator: match by term: Immunodeficiency, common variable, 4

NCBI chr 7:115,833,523...116,009,790
Ensembl chr 7:113,954,089...114,051,839

G

TEF transcription factor, PAR bZIP family member

ClinVar Annotator: match by term: Immunodeficiency, common variable, 4

PMID:19666484 PMID:28492532

NCBI chr 7:115,197,180...115,221,930
Ensembl chr 7:113,317,283...113,341,783

G

TNF receptor superfamily member 13C

ClinVar Annotator: match by term: ANTIBODY DEFICIENCY DUE TO BAFFR DEFECT | ClinVar Annotator: match by term: Immunodeficiency, common variable, 4

PMID:9536098 PMID:17576681 PMID:19666484 PMID:21041452 PMID:25741868 More...

NCBI chr 7:115,616,139...115,618,647
Ensembl chr 7:113,736,055...113,738,517

G

transducer of ERBB2, 2

ClinVar Annotator: match by term: Immunodeficiency, common variable, 4

PMID:19666484 PMID:28492532

NCBI chr 7:115,242,843...115,251,563
Ensembl chr 7:113,361,148...113,372,688

G

WBP2 N-terminal like

ClinVar Annotator: match by term: Immunodeficiency, common variable, 4

PMID:19666484 PMID:28492532

NCBI chr 7:115,694,910...115,710,912
Ensembl chr 7:113,814,992...113,831,333

G

X-prolyl aminopeptidase 3

ClinVar Annotator: match by term: Immunodeficiency, common variable, 4

NCBI chr 7:114,806,398...114,858,934
Ensembl chr 7:112,926,248...112,974,878

G

X-ray repair cross complementing 6

ClinVar Annotator: match by term: Immunodeficiency, common variable, 4

PMID:19666484 PMID:28492532

NCBI chr 7:115,423,026...115,443,884
Ensembl chr 7:113,543,057...113,563,762

G

zinc finger CCCH-type containing 7B

ClinVar Annotator: match by term: Immunodeficiency, common variable, 4

PMID:19666484 PMID:28492532

NCBI chr 7:115,142,245...115,190,513
Ensembl chr 7:113,262,165...113,310,399

common variable immunodeficiency 5

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

membrane spanning 4-domains A1

ClinVar Annotator: match by term: Immunodeficiency, common variable, 5 | ClinVar Annotator: match by term: MS4A1-related condition

PMID:25741868 PMID:28492532

NCBI chr 1:217,331,274...217,351,934
Ensembl chr 1:207,906,374...207,918,512

common variable immunodeficiency 6

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

Cd81 molecule

ClinVar Annotator: match by term: CD81-related condition | ClinVar Annotator: match by term: Immunodeficiency, common variable, 6

PMID:20237408 PMID:25741868 PMID:28492532

NCBI chr 1:207,665,274...207,681,094
Ensembl chr 1:198,241,484...198,251,660

common variable immunodeficiency 7

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

similar to human chromosome 1 open reading frame 116

ClinVar Annotator: match by term: Immunodeficiency, common variable, 7

NCBI chr13:44,739,716...44,753,695
Ensembl chr13:42,188,609...42,201,426

G

complement component 4 binding protein, alpha

ClinVar Annotator: match by term: Immunodeficiency, common variable, 7

NCBI chr13:44,627,959...44,663,552
Ensembl chr13:42,075,717...42,111,205

G

complement component 4 binding protein, beta

ClinVar Annotator: match by term: Immunodeficiency, common variable, 7

NCBI chr13:44,673,064...44,683,781
Ensembl chr13:42,120,798...42,131,817

G

CD34 molecule

ClinVar Annotator: match by term: Immunodeficiency, common variable, 7

NCBI chr13:109,008,786...109,029,317
Ensembl chr13:106,480,043...106,499,832

G

CD46 molecule

ClinVar Annotator: match by term: Immunodeficiency, common variable, 7

NCBI chr13:109,104,122...109,134,903
Ensembl chr13:106,574,858...106,660,445

G

CD55 molecule (Cromer blood group)

ClinVar Annotator: match by term: Immunodeficiency, common variable, 7

NCBI chr13:44,409,574...44,438,913
Ensembl chr13:41,857,395...41,885,831

G

complement C3b/C4b receptor 1 like

ClinVar Annotator: match by term: Immunodeficiency, common variable, 7

NCBI chr13:109,138,132...109,189,068
Ensembl chr13:106,574,858...106,660,445

G

complement C3d receptor 2

susceptibility

ClinVar Annotator: match by term: Immunodeficiency, common variable, 7

PMID:9536098 PMID:16199547 PMID:17576681 PMID:22035880 PMID:24029428 More...

NCBI chr13:109,207,034...109,244,980
Ensembl chr13:106,685,413...106,716,235

G

Fc alpha and mu receptor

ClinVar Annotator: match by term: Immunodeficiency, common variable, 7

NCBI chr13:44,825,931...44,839,938
Ensembl chr13:42,273,628...42,287,113

G

Fc mu receptor

ClinVar Annotator: match by term: Immunodeficiency, common variable, 7

NCBI chr13:44,889,628...44,903,926
Ensembl chr13:42,337,414...42,351,653

G

interleukin 10

ClinVar Annotator: match by term: Immunodeficiency, common variable, 7

NCBI chr13:45,024,921...45,029,586
Ensembl chr13:42,472,839...42,477,313

G

interleukin 19

ClinVar Annotator: match by term: Immunodeficiency, common variable, 7

NCBI chr13:44,949,989...44,958,714
Ensembl chr13:42,399,138...42,405,473

G

interleukin 20

ClinVar Annotator: match by term: Immunodeficiency, common variable, 7

NCBI chr13:44,933,249...44,936,893
Ensembl chr13:42,380,981...42,384,625

G

interleukin 24

ClinVar Annotator: match by term: Immunodeficiency, common variable, 7

NCBI chr13:44,905,362...44,910,760
Ensembl chr13:42,353,090...42,358,487

G

6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 2

ClinVar Annotator: match by term: Immunodeficiency, common variable, 7

NCBI chr13:44,683,499...44,727,135
Ensembl chr13:42,147,478...42,174,699

G

polymeric immunoglobulin receptor

ClinVar Annotator: match by term: Immunodeficiency, common variable, 7

NCBI chr13:44,851,001...44,879,143
Ensembl chr13:42,298,914...42,326,875

G

plexin A2

ClinVar Annotator: match by term: Immunodeficiency, common variable, 7

NCBI chr13:108,683,155...108,888,336
Ensembl chr13:106,163,103...106,358,979

G

YOD1 deubiquitinase

ClinVar Annotator: match by term: Immunodeficiency, common variable, 7

NCBI chr13:44,727,319...44,733,933
Ensembl chr13:42,174,820...42,177,205

common variable immunodeficiency 8

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

LPS responsive beige-like anchor protein

ClinVar Annotator: match by term: Common variable immunodeficiency 8, with autoimmunity

PMID:9536098 PMID:16199547 PMID:17576681 PMID:22608502 PMID:22721650 More...

NCBI chr 2:173,919,330...174,500,536
Ensembl chr 2:171,621,507...172,202,724

G

mab-21 like 2

ClinVar Annotator: match by term: Common variable immunodeficiency 8, with autoimmunity

PMID:25640679 PMID:26206937 PMID:26768763 PMID:28492532

NCBI chr 2:174,244,538...174,247,620
Ensembl chr 2:171,946,573...171,949,655

dysgammaglobulinemia

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

CD40 ligand

Hyper-IgM Immunodeficiency Syndrome HIGM1, OMIM:308230

RGD

NCBI chr X:140,164,341...140,176,057
Ensembl chr X:135,126,969...135,138,306

G

immunoglobulin kappa constant

CTD Direct Evidence: marker/mechanism

G

uracil-DNA glycosylase

Hyper-IgM syndrome 5, OMIM:608106

RGD

NCBI chr12:48,145,838...48,154,789
Ensembl chr12:42,485,276...42,494,206

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:157,352,364...157,372,144
Ensembl chr X:152,201,098...152,220,801

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
CTD Direct Evidence: marker/mechanism
DNA:mutation:splicing site:

OMIM
ClinVar
CTD
RGD

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

NCBI chr X:157,358,279...157,397,563
Ensembl chr X:152,216,596...152,239,499

hyper IgE recurrent infection syndrome 1

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

caveolae associated protein 1

ClinVar Annotator: match by term: Hyper-IgE recurrent infection syndrome 1, autosomal dominant

NCBI chr10:86,384,401...86,398,240
Ensembl chr10:85,889,036...85,896,120

G

interleukin 4 receptor

no_association

DNA:mutation:cds:p.Q576R(human)

RGD

NCBI chr 1:189,545,739...189,570,639
Ensembl chr 1:180,115,120...180,139,980

G

interleukin 6 cytokine family signal transducer

ClinVar Annotator: match by term: Hyper-IgE recurrent infection syndrome 1, autosomal dominant

PMID:25741868 PMID:32207811

NCBI chr 2:45,798,872...45,839,501
Ensembl chr 2:44,066,130...44,109,936

G

integrin subunit beta 3

ClinVar Annotator: match by term: Hyper-IgE recurrent infection syndrome 1, autosomal dominant

PMID:9351872 PMID:20106508 PMID:21917754 PMID:25741868 PMID:28492532

NCBI chr10:90,009,927...90,067,787
Ensembl chr10:89,509,989...89,564,679

G

signal transducer and activator of transcription 3

ClinVar Annotator: match by term: Autosomal Dominant Hyper IgE Syndrome | ClinVar Annotator: match by term: HYPER-IgE SYNDROME 1, AUTOSOMAL DOMINANT, WITH RECURRENT INFECTIONS | ClinVar Annotator: match by term: Hyper-IgE recurrent infection syndrome 1, autosomal dominant | ClinVar Annotator: match by term: Job syndrome
OMIM:147060
CTD Direct Evidence: marker/mechanism

ClinVar
MouseDO
CTD
OMIM
RGD

PMID:4161105 PMID:9536098 PMID:16199547 PMID:17576681 PMID:17676033 More...

NCBI chr10:86,311,528...86,363,513
Ensembl chr10:85,811,218...85,863,057

G

signal transducer and activator of transcription 5A

ClinVar Annotator: match by term: Hyper-IgE recurrent infection syndrome 1, autosomal dominant

NCBI chr10:86,285,859...86,310,187
Ensembl chr10:85,785,537...85,809,866

G

signal transducer and activator of transcription 5B

ClinVar Annotator: match by term: Hyper-IgE recurrent infection syndrome 1, autosomal dominant

NCBI chr10:86,205,148...86,276,178
Ensembl chr10:85,705,670...85,775,668

hyper IgE recurrent infection syndrome 2

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

coiled-coil domain 40 molecular ruler complex subunit

ClinVar Annotator: match by term: HYPER-IgE SYNDROME 2, AUTOSOMAL RECESSIVE, WITH RECURRENT INFECTIONS

PMID:21131974 PMID:22693285 PMID:23255504 PMID:23891469 PMID:25741868 More...

NCBI chr10:104,985,283...105,025,813
Ensembl chr10:104,486,748...104,527,243

G

dedicator of cytokinesis 8

ClinVar Annotator: match by term: DOCK8-related condition | ClinVar Annotator: match by term: HYPER-IgE RECURRENT INFECTION SYNDROME 2, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: HYPER-IgE SYNDROME 2, AUTOSOMAL RECESSIVE, WITH RECURRENT INFECTIONS
DNA:mutation:cds:

OMIM
ClinVar
RGD

PMID:9536098 PMID:14722525 PMID:16199547 PMID:16391785 PMID:17576681 More...

NCBI chr 1:232,075,468...232,268,830
Ensembl chr 1:222,649,309...222,842,474

G

KN motif and ankyrin repeat domains 1

ClinVar Annotator: match by term: HYPER-IgE SYNDROME 2, AUTOSOMAL RECESSIVE, WITH RECURRENT INFECTIONS

NCBI chr 1:232,381,720...232,500,834
Ensembl chr 1:222,877,622...223,074,514

G

Zn regulated GTPase metalloprotein activator 1A

ClinVar Annotator: match by term: HYPER-IgE RECURRENT INFECTION SYNDROME 2, AUTOSOMAL RECESSIVE

NCBI chr 1:231,994,651...232,039,314
Ensembl chr 1:222,564,545...222,610,629

hyper IgE recurrent infection syndrome 3

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

zinc finger protein 341

ClinVar Annotator: match by term: Hyper-IgE recurrent infection syndrome 3, autosomal recessive | ClinVar Annotator: match by term: ZNF341-related condition

PMID:25741868 PMID:28492532 PMID:29907690 PMID:29907691

NCBI chr 3:163,582,937...163,616,448
Ensembl chr 3:143,119,093...143,156,249

hyper IgE recurrent infection syndrome 4

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

interleukin 6 cytokine family signal transducer

ClinVar Annotator: match by term: HYPER-IgE RECURRENT INFECTION SYNDROME 4B, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Hyper-IgE recurrent infection syndrome 4, autosomal recessive | ClinVar Annotator: match by term: Hyper-IgE recurrent infection syndrome 4A, autosomal dominant

PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 PMID:28747427 More...

NCBI chr 2:45,798,872...45,839,501
Ensembl chr 2:44,066,130...44,109,936

hyper IgE syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

coiled-coil domain 40 molecular ruler complex subunit

ClinVar Annotator: match by term: Hyper-IgE recurrent infection syndrome, autosomal recessive

PMID:21131974 PMID:22693285 PMID:23255504 PMID:23891469 PMID:25741868 More...

NCBI chr10:104,985,283...105,025,813
Ensembl chr10:104,486,748...104,527,243

G

doublesex and mab-3 related transcription factor 1

ClinVar Annotator: match by term: Autosomal recessive hyper-IgE syndrome

NCBI chr 1:232,569,179...232,667,646
Ensembl chr 1:223,142,859...223,241,333

G

dedicator of cytokinesis 8

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Autosomal recessive hyper-IgE syndrome | ClinVar Annotator: match by term: HIES autosomal recessive | ClinVar Annotator: match by term: Hyper-IgE recurrent infection syndrome, autosomal recessive | ClinVar Annotator: match by term: Hyper-IgE syndrome

PMID:9536098 PMID:14722525 PMID:16199547 PMID:16391785 PMID:17576681 More...

NCBI chr 1:232,075,468...232,268,830
Ensembl chr 1:222,649,309...222,842,474

G

DOP1 leucine zipper like protein A

ClinVar Annotator: match by term: Hyper-IgE syndrome

NCBI chr 8:96,295,302...96,397,951
Ensembl chr 8:87,414,593...87,518,353

G

interferon gamma

CTD Direct Evidence: marker/mechanism

NCBI chr 7:55,789,180...55,793,216
Ensembl chr 7:53,903,337...53,907,375

G

KN motif and ankyrin repeat domains 1

ClinVar Annotator: match by term: Autosomal recessive hyper-IgE syndrome | ClinVar Annotator: match by term: Hyper-IgE recurrent infection syndrome, autosomal recessive

NCBI chr 1:232,381,720...232,500,834
Ensembl chr 1:222,877,622...223,074,514

G

phosphoglucomutase 3

ClinVar Annotator: match by term: Hyper-IgE syndrome

PMID:3500672 PMID:24698316

NCBI chr 8:96,398,331...96,416,045
Ensembl chr 8:87,517,701...87,536,022

G

signal transducer and activator of transcription 3

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hyper-IgE syndrome

PMID:17881745 PMID:18602572 PMID:18706697 PMID:18978467 PMID:20032313 More...

NCBI chr10:86,311,528...86,363,513
Ensembl chr10:85,811,218...85,863,057

G

Zn regulated GTPase metalloprotein activator 1A

ClinVar Annotator: match by term: Hyper-IgE recurrent infection syndrome, autosomal recessive

NCBI chr 1:231,994,651...232,039,314
Ensembl chr 1:222,564,545...222,610,629

hyper IgM syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

activation-induced cytidine deaminase

CTD Direct Evidence: marker/mechanism

NCBI chr 4:157,446,120...157,455,958
Ensembl chr 4:155,774,132...155,783,972

G

CD40 molecule

CTD Direct Evidence: marker/mechanism

NCBI chr 3:174,209,113...174,224,592
Ensembl chr 3:153,790,449...153,805,534

G

uracil-DNA glycosylase

CTD Direct Evidence: marker/mechanism

NCBI chr12:48,145,838...48,154,789
Ensembl chr12:42,485,276...42,494,206

Hyper-IgE Recurrent Infection Syndrome 5

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

interleukin 6 receptor

ClinVar Annotator: match by term: Hyper-IgE recurrent infection syndrome 5, autosomal recessive

PMID:8467812 PMID:25741868 PMID:28492532 PMID:31235509

NCBI chr 2:177,582,020...177,646,705
Ensembl chr 2:175,298,686...175,347,536

Hyper-IgE Recurrent Infection Syndrome 6

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

signal transducer and activator of transcription 6

ClinVar Annotator: match by term: Hyper-IgE syndrome 6, autosomal dominant, with recurrent infections

PMID:36884218 PMID:37316763

NCBI chr 7:65,365,505...65,382,825
Ensembl chr 7:63,479,642...63,498,495

hyperimmunoglobulin syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

activation-induced cytidine deaminase

susceptibility
onset

DNA:splice-site mutation:intron:IVS2+1G>T (human)
DNA:missense mutations, nonsense mutation:exon:p.W84X, p.R112C, p.R112H (human)
DNA:missense mutations:CDS:p.E58K (c.172G>A), p.C87R (c.259T>C), p.L113P (c.338T>C) (human)

RGD

PMID:11007475 PMID:15372234 PMID:11112359 PMID:17553565

RGD:1598906, RGD:11039485, RGD:11039483, RGD:11039457

NCBI chr 4:157,446,120...157,455,958
Ensembl chr 4:155,774,132...155,783,972

G

CD40 molecule

DNA:mutations:exons (human)

RGD

NCBI chr 3:174,209,113...174,224,592
Ensembl chr 3:153,790,449...153,805,534

hyperimmunoglobulinemia D periodic fever syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

metabolism of cobalamin associated B

ClinVar Annotator: match by term: Hyperimmunoglobulinemia D | ClinVar Annotator: match by term: Periodic fever Dutch type

PMID:23707710 PMID:24033266 PMID:25741868 PMID:28492532

NCBI chr12:47,819,757...47,833,127
Ensembl chr12:42,159,089...42,172,490

G

mevalonate kinase

ClinVar Annotator: match by term: Hyperimmunoglobulinemia D | ClinVar Annotator: match by term: Periodic fever Dutch type

PMID:3158961 PMID:8386351 PMID:9334262 PMID:9536098 PMID:10369261 More...

NCBI chr12:47,802,002...47,819,503
Ensembl chr12:42,141,384...42,158,882

G

VPS41 subunit of HOPS complex

ClinVar Annotator: match by term: Hyperimmunoglobulinemia D

PMID:25741868 PMID:33764426 PMID:33851776

NCBI chr17:50,758,732...50,923,129
Ensembl chr17:46,063,124...46,227,791

immunodeficiency 100

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

2'-5' oligoadenylate synthetase 1A

ClinVar Annotator: match by term: OAS1-related condition | ClinVar Annotator: match by term: Pulmonary alveolar proteinosis with hypogammaglobulinemia

PMID:16014697 PMID:25741868 PMID:28492532 PMID:29185156 PMID:29455859 More...

NCBI chr12:41,330,423...41,341,130
Ensembl chr12:35,669,801...35,680,517

immunodeficiency 125

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

Fms related receptor tyrosine kinase 3 ligand

ClinVar Annotator: match by term: Immunodeficiency 125

NCBI chr 1:104,751,518...104,756,925
Ensembl chr 1:95,609,370...95,620,463

immunodeficiency 35

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

adaptor related protein complex 1 subunit mu 2

ClinVar Annotator: match by term: Immunodeficiency 35

NCBI chr 8:28,114,748...28,132,767
Ensembl chr 8:19,838,580...19,856,482

G

autophagy related 4D, cysteine peptidase

ClinVar Annotator: match by term: Immunodeficiency 35

NCBI chr 8:28,083,902...28,093,491
Ensembl chr 8:19,807,766...19,817,321

G

cell division cycle 37, HSP90 cochaperone

ClinVar Annotator: match by term: Immunodeficiency 35

PMID:22402565 PMID:26304966 PMID:28492532

NCBI chr 8:27,954,292...27,966,935
Ensembl chr 8:19,671,938...19,690,809

G

cyclin dependent kinase inhibitor 2D

ClinVar Annotator: match by term: Immunodeficiency 35

NCBI chr 8:28,108,036...28,110,809
Ensembl chr 8:19,831,866...19,834,674

G

dynamin 2

ClinVar Annotator: match by term: Immunodeficiency 35

NCBI chr 8:28,254,344...28,336,297
Ensembl chr 8:19,978,400...20,060,157

G

DNA methyltransferase 1

ClinVar Annotator: match by term: Immunodeficiency 35

PMID:22402565 PMID:26304966 PMID:28492532

NCBI chr 8:27,716,797...27,763,405
Ensembl chr 8:19,440,611...19,486,659

G

ferredoxin 2

ClinVar Annotator: match by term: Immunodeficiency 35

PMID:22402565 PMID:26304966 PMID:28492532

NCBI chr 8:27,881,091...27,886,230
Ensembl chr 8:19,604,916...19,609,849

G

intercellular adhesion molecule 1

ClinVar Annotator: match by term: Immunodeficiency 35

PMID:22402565 PMID:26304966 PMID:28492532

NCBI chr 8:27,829,688...27,841,618
Ensembl chr 8:19,553,645...19,565,438

G

intercellular adhesion molecule 4, Landsteiner-Wiener blood group

ClinVar Annotator: match by term: Immunodeficiency 35

PMID:22402565 PMID:26304966 PMID:28492532

NCBI chr 8:19,566,075...19,567,171
Ensembl chr 8:19,566,075...19,567,171

G

intercellular adhesion molecule 5

ClinVar Annotator: match by term: Immunodeficiency 35

PMID:22402565 PMID:26304966 PMID:28492532

NCBI chr 8:27,843,563...27,851,767
Ensembl chr 8:19,568,600...19,575,588

G

interleukin enhancer binding factor 3

ClinVar Annotator: match by term: Immunodeficiency 35

NCBI chr 8:28,198,454...28,236,634
Ensembl chr 8:19,922,460...19,960,350

G

Kelch-like ECH-associated protein 1

ClinVar Annotator: match by term: Immunodeficiency 35

PMID:22402565 PMID:26304966 PMID:28492532

NCBI chr 8:28,044,555...28,054,042
Ensembl chr 8:19,768,375...19,777,862

G

KRI1 homolog

ClinVar Annotator: match by term: Immunodeficiency 35

NCBI chr 8:28,093,175...28,107,576
Ensembl chr 8:19,817,017...19,831,392

G

mitochondrial ribosomal protein L4

ClinVar Annotator: match by term: Immunodeficiency 35

PMID:22402565 PMID:26304966 PMID:28492532

NCBI chr 8:19,539,593...19,545,608
Ensembl chr 8:19,539,593...19,545,608

G

phosphodiesterase 4A

ClinVar Annotator: match by term: Immunodeficiency 35

PMID:22402565 PMID:26304966 PMID:28492532

NCBI chr 8:27,966,978...28,029,721
Ensembl chr 8:19,703,290...19,751,961

G

queuine tRNA-ribosyltransferase catalytic subunit 1

ClinVar Annotator: match by term: Immunodeficiency 35

NCBI chr 8:19,965,801...19,973,843
Ensembl chr 8:19,966,336...19,973,837

G

ribonucleoprotein, PTB-binding 1

ClinVar Annotator: match by term: Immunodeficiency 35

PMID:22402565 PMID:26304966 PMID:28492532

NCBI chr 8:19,610,464...19,629,188
Ensembl chr 8:19,610,466...19,629,152

G

sphingosine-1-phosphate receptor 2

ClinVar Annotator: match by term: Immunodeficiency 35

PMID:22402565 PMID:26304966 PMID:28492532

NCBI chr 8:27,779,452...27,790,344
Ensembl chr 8:19,502,627...19,523,574

G

sphingosine-1-phosphate receptor 5

ClinVar Annotator: match by term: Immunodeficiency 35

NCBI chr 8:28,062,841...28,068,013
Ensembl chr 8:19,786,663...19,791,795

G

solute carrier family 44 member 2

ClinVar Annotator: match by term: Immunodeficiency 35

NCBI chr 8:28,147,023...28,181,496
Ensembl chr 8:19,870,888...19,905,342

G

tyrosine kinase 2

ClinVar Annotator: match by term: Immunodeficiency 35 | ClinVar Annotator: match by term: Susceptibility to infection due to TYK2 deficiency | ClinVar Annotator: match by term: TYK2 DEFICIENCY
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
CTD

PMID:9536098 PMID:14500783 PMID:16199547 PMID:17088085 PMID:17576681 More...

NCBI chr 8:27,918,054...27,943,319
Ensembl chr 8:19,641,884...19,667,044

G

zinc finger, GATA-like protein 1

ClinVar Annotator: match by term: Immunodeficiency 35

PMID:22402565 PMID:26304966 PMID:28492532

NCBI chr 8:27,876,046...27,880,953
Ensembl chr 8:19,599,998...19,604,547

immunodeficiency 59

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

hypoxia up-regulated 1

ClinVar Annotator: match by term: Granulocytopenia with immunoglobulin abnormality | ClinVar Annotator: match by term: HYOU1-related condition

PMID:9536098 PMID:17576681 PMID:25741868 PMID:27913302 PMID:28492532

NCBI chr 8:53,602,882...53,614,998
Ensembl chr 8:44,706,263...44,718,186

immunodeficiency 61

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

SH3 domain-containing kinase-binding protein 1

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Immunodeficiency 61 | ClinVar Annotator: match by term: SH3KBP1-related condition

OMIM
CTD
ClinVar

PMID:25741868 PMID:28492532 PMID:29636373

NCBI chr X:38,686,530...39,031,658
Ensembl chr X:34,877,866...35,222,747

immunodeficiency 62

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 62

PMID:25741868 PMID:28492532

NCBI chr16:75,578,824...75,757,464
Ensembl chr16:68,877,504...69,054,759

G

Rho guanine nucleotide exchange factor 1

ClinVar Annotator: match by term: ARHGEF1-related condition | ClinVar Annotator: match by term: Immunodeficiency 62

PMID:25741868 PMID:28492532 PMID:30521495

NCBI chr 1:89,626,884...89,648,823
Ensembl chr 1:80,499,131...80,520,953

G

FA complementation group I

ClinVar Annotator: match by term: Immunodeficiency 62

PMID:25741868 PMID:28492532

NCBI chr 1:142,736,636...142,792,999
Ensembl chr 1:133,327,297...133,383,640

immunodeficiency with hyper IgM type 3

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

CD40 molecule

ClinVar Annotator: match by term: CD40-related condition | ClinVar Annotator: match by term: Hyper-IgM Immunodeficiency Syndrome, Type 3 | ClinVar Annotator: match by term: Immunodeficiency with hyper IgM type 3

PMID:11675497 PMID:12584544 PMID:12593727 PMID:14611700 PMID:15272925 More...

NCBI chr 3:174,209,113...174,224,592
Ensembl chr 3:153,790,449...153,805,534

immunodeficiency with hyper IgM type 5

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

acetyl-CoA carboxylase beta

ClinVar Annotator: match by term: Hyper-IgM Immunodeficiency Syndrome, Type 5

NCBI chr12:48,026,394...48,138,214
Ensembl chr12:42,366,548...42,457,655

G

uracil-DNA glycosylase

ClinVar Annotator: match by term: Hyper-IgM Immunodeficiency Syndrome, Type 5 | ClinVar Annotator: match by term: Immunodeficiency with hyper IgM type 5

PMID:9536098 PMID:12958596 PMID:15967827 PMID:16199547 PMID:17029639 More...

NCBI chr12:48,145,838...48,154,789
Ensembl chr12:42,485,276...42,494,206

immunodeficiency with hyper-IgM type 2

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

activation-induced cytidine deaminase

ClinVar Annotator: match by term: Hyper-IgM syndrome type 2
OMIM:605258

OMIM
ClinVar
MouseDO

PMID:9536098 PMID:11007475 PMID:11112359 PMID:12715918 PMID:12910268 More...

NCBI chr 4:157,446,120...157,455,958
Ensembl chr 4:155,774,132...155,783,972

G

C-type lectin domain family 4, member D

ClinVar Annotator: match by term: Hyper-IgM syndrome type 2

PMID:16964591 PMID:28492532

NCBI chr 4:158,275,287...158,286,978
Ensembl chr 4:156,589,792...156,598,848

G

C-type lectin domain family 4, member E

ClinVar Annotator: match by term: Hyper-IgM syndrome type 2

PMID:16964591 PMID:28492532

NCBI chr 4:158,292,624...158,298,607
Ensembl chr 4:156,607,614...156,612,767

G

C-type lectin domain family 6, member A, pseudogene 1

ClinVar Annotator: match by term: Hyper-IgM syndrome type 2

PMID:16964591 PMID:28492532

NCBI chr 4:158,225,100...158,244,722
Ensembl chr 4:156,539,408...156,558,605
Ensembl chr 4:156,539,408...156,558,605

G

TNF receptor superfamily member 13B

ClinVar Annotator: match by term: Hyper-IgM Immunodeficiency Syndrome, Type 2

PMID:16007086 PMID:16007087 PMID:17392798 PMID:18981294 PMID:21547394 More...

NCBI chr10:46,301,336...46,322,460
Ensembl chr10:45,801,860...45,822,987

Immunoglobulin A Deficiency 2

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

TNF receptor superfamily member 13B

ClinVar Annotator: match by term: IgA, selective deficiency of, TACI related | ClinVar Annotator: match by term: Immunoglobulin A deficiency 2
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
CTD

PMID:16007086 PMID:16007087 PMID:16630947 PMID:16782407 PMID:17192819 More...

NCBI chr10:46,301,336...46,322,460
Ensembl chr10:45,801,860...45,822,987

immunoglobulin alpha deficiency

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

Abelson helper integration site 1

CTD Direct Evidence: marker/mechanism

NCBI chr 1:17,580,859...17,711,775
Ensembl chr 1:15,762,462...15,891,041

G

C-type lectin domain containing 16A

CTD Direct Evidence: marker/mechanism

PMID:20694011 PMID:27723758

NCBI chr10:5,434,725...5,631,246
Ensembl chr10:4,928,030...5,123,578

G

cytotoxic T-lymphocyte-associated protein 4

susceptibility

DNA:SNPs,haplotype: :rs231770,rs16840252,rs231775(human)

RGD

NCBI chr 9:69,812,859...69,819,959
Ensembl chr 9:62,319,312...62,324,963

G

inducible T-cell co-stimulator

susceptibility

DNA:SNPs,haplotype: :rs4521021,rs10172036(human)

RGD

NCBI chr 9:69,862,042...69,900,864
Ensembl chr 9:62,383,832...62,405,672

G

interferon induced with helicase C domain 1

CTD Direct Evidence: marker/mechanism

PMID:20694011 PMID:27723758

NCBI chr 3:67,635,924...67,683,968
Ensembl chr 3:47,227,364...47,275,456

G

Pvt1 oncogene

CTD Direct Evidence: marker/mechanism

NCBI chr 7:95,545,916...95,769,306

G

RT1 class II, locus Bb

RGD

PMID:22291608 PMID:10931389

RGD:11041755, RGD:11041756

NCBI chr20:4,598,475...4,604,118
Ensembl chr20:4,596,559...4,607,597

isolated growth hormone deficiency type III

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ARF like GTPase 13A

ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency

NCBI chr X:97,380,370...97,406,704
Ensembl chr X:97,380,390...97,406,702

G

armadillo repeat containing, X-linked 1

ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency

NCBI chr X:102,192,225...102,196,130
Ensembl chr X:97,898,883...97,903,299

G

armadillo repeat containing, X-linked 2

ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency

NCBI chr X:102,273,915...102,278,789
Ensembl chr X:97,980,660...97,985,552

G

armadillo repeat containing, X-linked 3

ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency

NCBI chr X:102,230,464...102,234,017
Ensembl chr X:97,936,999...97,942,098

G

armadillo repeat containing, X-linked 4

ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency

NCBI chr X:102,153,743...102,164,173
Ensembl chr X:97,860,629...97,870,912

G

armadillo repeat containing, X-linked 6

ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency

NCBI chr X:97,929,032...97,932,031
Ensembl chr X:97,929,041...97,931,977

G

Bruton tyrosine kinase

ClinVar Annotator: match by term: BTK-related condition | ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
CTD

PMID:1240516 PMID:2896233 PMID:3486747 PMID:4697357 PMID:7554467 More...

NCBI chr X:102,016,070...102,055,448
Ensembl chr X:97,722,802...97,761,853

G

centromere protein I

ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency

NCBI chr X:97,515,919...97,567,671
Ensembl chr X:97,515,972...97,567,657

G

cleavage stimulation factor subunit 2

ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency

NCBI chr X:101,546,809...101,572,760
Ensembl chr X:97,253,586...97,279,476

G

dystrophin related protein 2

ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency

NCBI chr X:101,900,743...101,951,403
Ensembl chr X:97,607,719...97,655,684

G

galactosidase, alpha

ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency

PMID:10666480 PMID:12175777 PMID:15661032 PMID:16862044 PMID:19419768 More...

NCBI chr X:102,062,497...102,073,915
Ensembl chr X:97,768,996...97,780,664

G

heterogeneous nuclear ribonucleoprotein H2

ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency

PMID:10666480 PMID:12175777 PMID:15661032 PMID:16862044 PMID:19419768 More...

NCBI chr X:102,074,175...102,080,115
Ensembl chr X:97,780,785...97,787,041

G

NADPH oxidase 1

ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency

NCBI chr X:101,572,338...101,625,571
Ensembl chr X:97,279,056...97,302,236

G

nuclear RNA export factor 7

ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency

NCBI chr X:102,828,592...102,845,799
Ensembl chr X:98,535,375...98,552,526

G

protocadherin 19

ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency

NCBI chr X:101,061,002...101,166,777
Ensembl chr X:96,771,947...96,873,524

G

ribosomal protein L36A

ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency

PMID:10666480 PMID:12175777 PMID:15661032 PMID:16862044 PMID:19419768 More...

NCBI chr X:102,058,573...102,062,162
Ensembl chr X:97,766,179...97,768,892
Ensembl chr20:97,766,179...97,768,892

G

sushi-repeat-containing protein, X-linked 2

ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency

NCBI chr X:101,399,748...101,425,486
Ensembl chr X:97,106,561...97,132,195

G

synaptotagmin-like 4

ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency

NCBI chr X:101,428,785...101,479,207
Ensembl chr X:97,135,500...97,185,854

G

TATA-box binding protein associated factor 7-like

ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency

NCBI chr X:101,953,508...101,968,336
Ensembl chr X:97,660,222...97,675,023

G

translocase of inner mitochondrial membrane 8A1

ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency

PMID:7711734 PMID:9445504 PMID:9545398 PMID:11956200 PMID:21984432 More...

NCBI chr X:102,011,206...102,015,444
Ensembl chr X:97,717,920...97,721,960

G

transmembrane protein 35A

ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency

NCBI chr X:101,796,623...101,807,471
Ensembl chr X:97,503,350...97,514,197

G

tenomodulin

ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency

NCBI chr X:101,350,432...101,365,929
Ensembl chr X:97,057,137...97,072,634

G

tRNA methyltransferase 2 homolog B

ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency

NCBI chr X:97,425,712...97,483,821

G

tetraspanin 6

ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency

NCBI chr X:101,385,686...101,395,371
Ensembl chr X:97,092,388...97,099,309

G

XK related, X-linked

ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency

NCBI chr X:101,634,438...101,733,814
Ensembl chr X:97,341,152...97,354,759

selective IgA deficiency disease

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

TNF receptor superfamily member 13B

ClinVar Annotator: match by term: IgAD1

PMID:17697196 PMID:18200502 PMID:18981294 PMID:21419480 PMID:21458042 More...

NCBI chr10:46,301,336...46,322,460
Ensembl chr10:45,801,860...45,822,987

selective IgG deficiency disease

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

interferon gamma

mRNA:decreased expression:peripheral blood leukocyte:

RGD

NCBI chr 7:55,789,180...55,793,216
Ensembl chr 7:53,903,337...53,907,375

X-linked agammaglobulinemia

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

Bruton tyrosine kinase

ameliorates

ClinVar Annotator: match by term: X-linked agammaglobulinemia
OMIM:300755
CTD Direct Evidence: marker/mechanism
Human gene in mouse model
human gene in a mouse model
DNA:mutations:exon, intron:multiple

OMIM
ClinVar
MouseDO
CTD
RGD

PMID:2896233 PMID:3486747 PMID:4697357 PMID:7554467 PMID:7627183 More...

RGD:124715475, RGD:124713551, RGD:11040698, RGD:11040588

NCBI chr X:102,016,070...102,055,448
Ensembl chr X:97,722,802...97,761,853

G

phosphoinositide-3-kinase regulatory subunit 1

OMIM:300310 | OMIM:300755

NCBI chr 2:34,612,946...34,697,660
Ensembl chr 2:32,882,032...32,963,631

G

translocase of inner mitochondrial membrane 8A1

ClinVar Annotator: match by term: X-linked agammaglobulinemia

NCBI chr X:102,011,206...102,015,444
Ensembl chr X:97,717,920...97,721,960

X-linked hyper IgM syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

adhesion G protein-coupled receptor G4

ClinVar Annotator: match by term: Hyper-IgM syndrome type 1

PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 More...

NCBI chr X:139,771,962...139,901,771
Ensembl chr X:134,854,736...134,864,449

G

activation-induced cytidine deaminase

ClinVar Annotator: match by term: Hyperimmunoglobulin M syndrome

PMID:24033266 PMID:25741868 PMID:28492532

NCBI chr 4:157,446,120...157,455,958
Ensembl chr 4:155,774,132...155,783,972

G

Rac/Cdc42 guanine nucleotide exchange factor 6

ClinVar Annotator: match by term: Hyper-IgM syndrome type 1

PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 More...

NCBI chr X:140,182,734...140,302,812
Ensembl chr X:135,146,786...135,275,304

G

bombesin receptor subtype 3

ClinVar Annotator: match by term: Hyper-IgM syndrome type 1

PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 More...

NCBI chr X:139,944,080...139,969,637
Ensembl chr X:134,906,784...134,930,983

G

CD40 molecule

ClinVar Annotator: match by term: Hyperimmunoglobulin M syndrome | ClinVar Annotator: match by term: X-linked hyper-IgM syndrome

PMID:25741868 PMID:29884852

NCBI chr 3:174,209,113...174,224,592
Ensembl chr 3:153,790,449...153,805,534

G

CD40 ligand

ClinVar Annotator: match by term: Hyper-IgM syndrome type 1 | ClinVar Annotator: match by term: Hyperimmunoglobulin M syndrome

PMID:1385114 PMID:1427881 PMID:7586644 PMID:7678782 PMID:7679206 More...

NCBI chr X:140,164,341...140,176,057
Ensembl chr X:135,126,969...135,138,306

G

four and a half LIM domains 1

ClinVar Annotator: match by term: Hyper-IgM syndrome type 1

PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 More...

NCBI chr X:139,592,794...139,652,290
Ensembl chr X:134,555,479...134,614,928

G

G protein-coupled receptor 101

ClinVar Annotator: match by term: Hyper-IgM syndrome type 1

PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 More...

NCBI chr X:140,575,818...140,579,734
Ensembl chr X:135,540,042...135,543,958

G

HIV-1 Tat specific factor 1

ClinVar Annotator: match by term: Hyper-IgM syndrome type 1

PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 More...

NCBI chr X:139,972,742...139,986,923
Ensembl chr X:134,935,426...134,949,607

G

MAP7 domain containing 3

ClinVar Annotator: match by term: Hyper-IgM syndrome type 1

PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 More...

NCBI chr X:139,656,587...139,723,239
Ensembl chr X:134,619,227...134,685,841

G

RNA binding motif protein, X-linked

ClinVar Annotator: match by term: Hyper-IgM syndrome type 1

PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 More...

NCBI chr X:140,342,544...140,352,121
Ensembl chr X:135,305,325...135,314,743

G

solute carrier family 9 member A6

ClinVar Annotator: match by term: Hyper-IgM syndrome type 1

PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 More...

NCBI chr X:139,468,045...139,524,111
Ensembl chr X:134,420,756...134,485,375

G

uracil-DNA glycosylase

ClinVar Annotator: match by term: Hyperimmunoglobulin M syndrome

NCBI chr12:48,145,838...48,154,789
Ensembl chr12:42,485,276...42,494,206

G

vestigial-like family member 1

ClinVar Annotator: match by term: Hyper-IgM syndrome type 1

PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 More...

NCBI chr X:140,016,938...140,036,348

G

Zic family member 3

ClinVar Annotator: match by term: Hyper-IgM syndrome type 1

PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 More...

NCBI chr X:141,159,623...141,165,587
Ensembl chr X:136,124,026...136,134,746

X-Linked Hypogammaglobulinemia

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

Bruton tyrosine kinase

ClinVar Annotator: match by term: Hypogammaglobulinemia, X-linked

NCBI chr X:102,016,070...102,055,448
Ensembl chr X:97,722,802...97,761,853

Term paths to the root

Path 1
Term	Annotations
disease	19139
syndrome	11404
primary immunodeficiency disease	4479
B cell deficiency	446
B-Cell Immunodeficiency, Distal Limb Anomalies, and Urogenital Malformations	2
agammaglobulinemia +	369
congenital hypogammaglobulinemia	0
hyperimmunoglobulin syndrome +	65
immunodeficiency 125	1
immunodeficiency 61	1
immunodeficiency 62	3
immunoglobulin alpha deficiency +	8
immunoglobulin beta deficiency	0
lambda 5 deficiency	0
selective immunoglobulin deficiency disease +	73
Path 2
Term	Annotations
disease	19139
disease of anatomical entity	18451
Immune & Inflammatory Diseases	5751
immune system disease	5071
primary immunodeficiency disease	4479
B cell deficiency	446
B-Cell Immunodeficiency, Distal Limb Anomalies, and Urogenital Malformations	2
agammaglobulinemia +	369
congenital hypogammaglobulinemia	0
hyperimmunoglobulin syndrome +	65
immunodeficiency 125	1
immunodeficiency 61	1
immunodeficiency 62	3
immunoglobulin alpha deficiency +	8
immunoglobulin beta deficiency	0
lambda 5 deficiency	0
selective immunoglobulin deficiency disease +	73

paths to the root