blood protein disease - 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:	blood protein disease	go back to main search page
Accession:	DOID:620	browse the term
Definition:	Hematologic diseases caused by structural or functional defects of BLOOD PROTEINS.
Synonyms:	exact_synonym:	blood protein disorder; blood protein disorders
	primary_id:	MESH:D001796
For additional species annotation, visit the Alliance of Genome Resources.

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Rat (690) Mouse (792) Human (15057) Chinchilla (618) Bonobo (679) Dog (672) Squirrel (640) Pig (657) Green Monkey (666) Naked Mole-rat (618) All
Genes (666)

blood protein disease

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

albumin

DNA:missense mutation:cds:p.D293G,K198I(human)

NCBI chr 7:21,872,036...21,890,095
Ensembl chr 7:21,876,132...21,891,407

Acquired Protein C Deficiency

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

serpin family E member 1

associated with Sepsis;protein:increased activity:lung (rat)

NCBI chr28:12,047,520...12,060,662
Ensembl chr28:12,047,529...12,060,202

acute chest syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

heme oxygenase 1

associated with Anemia, Sickle Cell;DNA:repeat:promoter

NCBI chr19:18,144,466...18,157,944
Ensembl chr19:18,144,545...18,157,971

G

glutathione S-transferase Mu 1

susceptibility

associated with sickle cell anemia;

NCBI chr20:23,854,969...23,861,634

G

nitric oxide synthase 3

susceptibility

associated with Anemia, Sickle Cell;DNA:polymorphism: :-786T>C(human)
associated with Anemia, Sickle Cell;DNA:repeats:intron:

PMID:14687036 PMID:25263931

RGD:11533931 RGD:11533934

NCBI chr21:119,174,829...119,196,840

G

vascular endothelial growth factor A

susceptibility

associated with Anemia, Sickle Cell;DNA:SNPs: : rs2010963, rs833068,rs3025020(human)
associated with Anemia, Sickle Cell;DNA:polymorphism:583C > T (human)

PMID:22925497 PMID:25130874

RGD:11075233 RGD:11075235

NCBI chr17:28,377,959...28,394,508

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 2:18,026,927...18,043,940
Ensembl chr 2:18,027,016...18,043,823

G

adenosine deaminase

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

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

NCBI chr 2:19,167,209...19,200,233

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 2:19,089,944...19,103,051
Ensembl chr 2:19,088,597...19,103,136

G

CD247 molecule

ClinVar Annotator: match by term: Bubble boy disease

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

NCBI chr25:61,508,256...61,596,464
Ensembl chr25:61,508,283...61,595,414

G

CD3e molecule

ClinVar Annotator: match by term: Bubble boy disease

PMID:25741868 PMID:28492532

NCBI chr 1:109,681,142...109,692,835
Ensembl chr 1:109,681,065...109,692,839

G

CD3g molecule

ClinVar Annotator: match by term: Bubble boy disease

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

NCBI chr 1:109,721,150...109,730,267
Ensembl chr 1:109,720,789...109,732,014

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 2:17,753,713...17,765,134
Ensembl chr 2:17,753,394...17,764,566

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 2:17,573,244...17,709,470
Ensembl chr 2:17,631,664...17,708,309

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 2:17,986,036...17,993,866
Ensembl chr 2:17,984,310...17,993,489

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 2:18,424,594...18,429,086

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 2:18,074,766...18,098,147
Ensembl chr 2:18,074,767...18,098,108

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 2:17,477,425...17,518,814
Ensembl chr 2:17,489,658...17,518,843

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 2:19,509,761...19,513,718
Ensembl chr 2:19,509,809...19,517,238

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 2:19,536,065...19,570,111
Ensembl chr 2:19,535,515...19,569,711

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 2:20,086,078...20,087,139
Ensembl chr 2:20,086,605...20,087,051

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 2:19,390,870...19,466,300
Ensembl chr 2:19,388,891...19,421,664

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 2:20,154,246...20,211,754
Ensembl chr 2:20,152,036...20,211,682

G

Janus kinase 3

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

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

NCBI chr 6:16,301,760...16,323,343
Ensembl chr 6:16,300,525...16,322,859

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 2:19,626,035...19,703,589
Ensembl chr 2:19,626,832...19,703,765

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 2:19,058,291...19,065,551
Ensembl chr 2:19,059,769...19,065,190

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 2:18,715,666...18,724,955

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 2:18,600,260...18,626,326

G

myosin-7

ClinVar Annotator: match by term: Bubble boy disease

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

NCBI chr29:23,783,610...23,804,981
Ensembl chr29:23,783,557...23,799,771

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 2:18,532,094...18,544,386

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 2:17,867,267...17,874,757
Ensembl chr 2:17,867,177...17,874,712

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 2:20,097,179...20,148,998
Ensembl chr 2:20,097,108...20,148,926

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 8:85,017,807...85,069,219
Ensembl chr 8:85,015,752...85,069,028

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 2:17,791,969...17,822,298
Ensembl chr 2:17,791,813...17,820,974

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 2:17,993,531...17,996,207
Ensembl chr 2:17,993,827...17,999,082

G

non-homologous end joining factor 1

ClinVar Annotator: match by term: Bubble boy disease

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

NCBI chr10:104,981,313...105,071,828
Ensembl chr10:104,982,380...105,068,999

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 2:17,331,486...17,340,460
Ensembl chr 2:17,332,024...17,340,162

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 2:19,603,889...19,617,678
Ensembl chr 2:19,603,983...19,618,585

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 2:18,872,217...18,904,492
Ensembl chr 2:18,872,021...18,902,991

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 2:17,938,156...17,953,289
Ensembl chr 2:17,938,423...17,948,425

G

peptidase inhibitor 3

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

PMID:26255240 PMID:26376800 PMID:28492532

NCBI chr 2:18,649,456...18,652,660
Ensembl chr 2:18,649,353...18,651,148

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 2:18,408,789...18,419,186
Ensembl chr 2:18,408,758...18,419,103

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 2:19,200,718...19,289,649
Ensembl chr 2:19,201,221...19,237,497

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 2:17,972,054...17,986,100
Ensembl chr 2:17,972,215...17,988,701

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 2:19,470,038...19,488,066
Ensembl chr 2:19,470,641...19,486,638

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 1:28,667,996...28,701,002

G

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

NCBI chr 1:28,645,175...28,653,823
Ensembl chr 1:28,649,930...28,651,513

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 2:18,518,416...18,531,458
Ensembl chr 2:18,520,796...18,529,641

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 2:19,001,516...19,058,797
Ensembl chr 2:19,001,617...19,058,863

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 2:18,490,474...18,513,329
Ensembl chr 2:18,490,485...18,513,332

G

semenogelin 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

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 2:19,299,852...19,325,448
Ensembl chr 2:19,299,828...19,321,466

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 2:17,823,141...17,854,996
Ensembl chr 2:17,825,676...17,854,950

G

solute carrier family 13 member 3

ClinVar Annotator: match by term: Bubble boy disease

PMID:26255240 PMID:26376800 PMID:28492532

NCBI chr 2:17,233,287...17,324,761
Ensembl chr 2:17,233,346...17,324,951

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 2:17,160,692...17,185,875

G

solute carrier family 35 member C2

ClinVar Annotator: match by term: Bubble boy disease

PMID:26255240 PMID:26376800 PMID:28492532

NCBI chr 2:17,520,381...17,534,066
Ensembl chr 2:17,525,182...17,534,215

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 2:18,579,549...18,581,897
Ensembl chr 2:18,579,515...18,582,076

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 2:18,043,937...18,052,497
Ensembl chr 2:18,044,322...18,052,034

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 2:17,997,021...17,998,356
Ensembl chr 2:17,997,251...17,998,325

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 2:18,320,557...18,324,159
Ensembl chr 2:18,320,887...18,323,976

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 2:18,138,111...18,140,563
Ensembl chr 2:18,138,328...18,140,101

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 2:18,737,484...18,844,610
Ensembl chr 2:18,742,162...18,844,647

G

SYS1 golgi trafficking protein

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

PMID:26255240 PMID:26376800 PMID:28492532

NCBI chr 2:18,471,183...18,475,941
Ensembl chr 2:18,472,155...18,475,801

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 2:18,051,708...18,063,108
Ensembl chr 2:18,061,492...18,062,971

G

translocase of outer mitochondrial membrane 34

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

PMID:26255240 PMID:26376800 PMID:28492532

NCBI chr 2:18,850,986...18,869,335
Ensembl chr 2:18,851,053...18,869,404

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 2:19,747,852...19,902,892
Ensembl chr 2:19,747,857...19,902,828

G

TP53 regulating kinase

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

PMID:26255240 PMID:26376800 PMID:28492532

NCBI chr 2:17,196,599...17,199,829
Ensembl chr 2:17,196,172...17,203,130

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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 2:18,460,528...18,465,438
Ensembl chr 2:18,461,065...18,465,411

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 2:19,330,917...19,345,688
Ensembl chr 2:19,331,990...19,345,681

G

ubiquitin conjugating enzyme E2 C

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

PMID:26255240 PMID:26376800 PMID:28492532

NCBI chr 2:18,069,525...18,073,597

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 2:18,213,757...18,218,101
Ensembl chr 2:18,215,355...18,216,548

G

WAP four-disulfide core domain 10B

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

PMID:26255240 PMID:26376800 PMID:28492532

NCBI chr 2:18,166,805...18,171,052

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 2:18,693,251...18,694,443
Ensembl chr 2:18,693,580...18,694,182

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 2:18,154,865...18,157,776
Ensembl chr 2:18,153,605...18,157,375

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 2:18,351,063...18,361,893
Ensembl chr 2:18,351,043...18,361,868

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 2:18,098,111...18,115,053
Ensembl chr 2:18,100,770...18,115,044

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 2:18,702,404...18,708,119
Ensembl chr 2:18,702,644...18,707,188

G

WAP four-disulfide core domain 6

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 2:18,296,865...18,298,961

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 2:18,261,347...18,287,264
Ensembl chr 2:18,275,771...18,286,403

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 2:18,235,403...18,238,666
Ensembl chr 2:18,236,154...18,238,235

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 2:18,904,588...18,927,461
Ensembl chr 2:18,906,666...18,927,374

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 2:17,350,260...17,363,186

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 2:17,912,892...17,937,546
Ensembl chr 2:17,914,387...17,937,313

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 2:18,000,145...18,003,663
Ensembl chr 2:18,000,473...18,001,930

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 2:18,005,392...18,026,745
Ensembl chr 2:18,004,574...18,026,506

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

NCBI chr 9:89,345,040...89,426,741
Ensembl chr 9:89,345,725...89,401,375

G

Bruton tyrosine kinase

susceptibility

DNA:insertions, point mutations
CTD Direct Evidence: therapeutic

PMID:8162018 PMID:15142874

NCBI chr X:89,690,569...89,727,420

G

CD19 molecule

CTD Direct Evidence: marker/mechanism

NCBI chr 5:26,140,703...26,145,447

G

CD79a molecule

CTD Direct Evidence: marker/mechanism

NCBI chr 6:36,078,057...36,089,367

G

CD79b molecule

CTD Direct Evidence: marker/mechanism

NCBI chr16:57,339,492...57,343,085
Ensembl chr16:57,339,457...57,343,358

G

leucine rich repeat containing 8 VRAC subunit A

CTD Direct Evidence: marker/mechanism

NCBI chr12:9,237,706...9,272,637
Ensembl chr12:9,234,738...9,272,565

G

transcription factor 3

CTD Direct Evidence: marker/mechanism

NCBI chr 6:1,393,147...1,440,515
Ensembl chr 6:1,393,107...1,440,479

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:89,690,569...89,727,420

G

CD79a molecule

ClinVar Annotator: match by term: Autosomal recessive agammaglobulinemia 1

PMID:25741868 PMID:28492532

NCBI chr 6:36,078,057...36,089,367

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 1:17,935,037...17,961,638
Ensembl chr 1:17,935,922...17,961,717

agammaglobulinemia 2

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

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

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

NCBI chr19:6,882,007...6,884,176
Ensembl chr19:6,878,662...6,884,655

G

chromosome unknown C22orf15 homolog

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

NCBI chr19:6,878,973...6,882,034
Ensembl chr19:6,879,478...6,881,927

G

derlin 3

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

NCBI chr19:6,944,291...6,949,948
Ensembl chr19:6,947,403...6,949,845

G

uncharacterized LOC103223018

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

NCBI chr19:6,832,205...6,849,407

G

macrophage migration inhibitory factor

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

NCBI chr19:7,000,837...7,001,700
Ensembl chr19:7,000,793...7,001,757

G

matrix metallopeptidase 11

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

NCBI chr19:6,889,343...6,900,563
Ensembl chr19:6,889,385...6,899,788

G

solute carrier family 2 member 11

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

NCBI chr19:6,954,917...6,992,241
Ensembl chr19:6,959,349...6,991,552

G

SWI/SNF related BAF chromatin remodeling complex subunit B1

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

NCBI chr19:6,902,985...6,945,111
Ensembl chr19:6,902,951...6,944,784

G

V-set pre-B cell surrogate light chain 3

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

NCBI chr19:6,869,415...6,871,366
Ensembl chr19:6,869,549...6,871,051

G

zinc finger protein 70

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

NCBI chr19:6,858,875...6,867,805
Ensembl chr19:6,861,102...6,862,442

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 6:36,078,057...36,089,367

G

ribosomal protein S19

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

NCBI chr 6:36,067,959...36,085,581

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 9:88,773,493...88,823,438

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 9:89,345,040...89,426,741
Ensembl chr 9:89,345,725...89,401,375

G

coiled-coil and C2 domain containing 2B

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

NCBI chr 9:89,065,329...89,193,297

G

cyclin J

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

NCBI chr 9:89,203,548...89,222,006
Ensembl chr 9:89,205,134...89,222,000

G

ectonucleoside triphosphate diphosphohydrolase 1

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

NCBI chr 9:88,921,826...89,034,418
Ensembl chr 9:88,922,007...89,032,880

G

tectonic family member 3

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

NCBI chr 9:88,829,750...88,859,580
Ensembl chr 9:88,829,749...88,859,547

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 9:89,285,520...89,317,282
Ensembl chr 9:89,309,965...89,314,413

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 chr12:9,237,706...9,272,637
Ensembl chr12:9,234,738...9,272,565

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 chr16:57,339,492...57,343,085
Ensembl chr16:57,339,457...57,343,358

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 4:64,321,296...64,406,188
Ensembl chr 4:64,321,078...64,406,519

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 6:1,393,147...1,440,515
Ensembl chr 6:1,393,107...1,440,479

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 6:1,393,147...1,440,515
Ensembl chr 6:1,393,107...1,440,479

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 6:1,393,147...1,440,515
Ensembl chr 6:1,393,107...1,440,479

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 chr17:38,870,726...38,874,334
Ensembl chr17:38,870,609...38,873,909

Analbuminemia

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

albumin

ClinVar Annotator: match by term: Analbuminemia | ClinVar Annotator: match by term: Analbuminemia Baghdad

PMID:3353369 PMID:7937781 PMID:8134387 PMID:9266687 PMID:11781148 More...

NCBI chr 7:21,872,036...21,890,095
Ensembl chr 7:21,876,132...21,891,407

Anhaptoglobinemia

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ATPase copper transporting beta

ClinVar Annotator: match by term: Anhaptoglobinemia

NCBI chr 3:29,817,712...29,899,302
Ensembl chr 3:29,816,860...29,899,077

G

haptoglobin-related protein

ClinVar Annotator: match by term: AHAPTOGLOBINEMIA

PMID:9463309 PMID:10644822 PMID:10666182 PMID:14616769

NCBI chr 5:55,223,995...55,227,908

antithrombin III deficiency

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ankyrin repeat domain 45

ClinVar Annotator: match by term: Hereditary antithrombin deficiency

NCBI chr25:55,525,068...55,584,488
Ensembl chr25:55,535,206...55,588,422

G

calcyclin binding protein

ClinVar Annotator: match by term: Hereditary antithrombin deficiency

NCBI chr25:54,246,331...54,258,273
Ensembl chr25:54,247,057...54,257,660

G

centromere protein L

ClinVar Annotator: match by term: Hereditary antithrombin deficiency

NCBI chr25:55,361,946...55,394,091
Ensembl chr25:55,379,756...55,393,734

G

COP1 E3 ubiquitin ligase

ClinVar Annotator: match by term: Hereditary antithrombin deficiency

NCBI chr25:53,057,479...53,316,662
Ensembl chr25:53,057,784...53,314,398

G

aspartyl-tRNA synthetase 2, mitochondrial

ClinVar Annotator: match by term: Hereditary antithrombin deficiency

NCBI chr25:55,334,669...55,367,257
Ensembl chr25:55,332,340...55,367,248

G

G protein-coupled receptor 52

ClinVar Annotator: match by term: Hereditary antithrombin deficiency

NCBI chr25:54,757,376...54,758,761

G

KIAA0040 ortholog

ClinVar Annotator: match by term: Hereditary antithrombin deficiency

NCBI chr25:54,063,776...54,098,518
Ensembl chr25:54,095,097...54,095,387

G

kelch like family member 20

ClinVar Annotator: match by term: Hereditary antithrombin deficiency

NCBI chr25:55,407,648...55,473,195
Ensembl chr25:55,405,713...55,473,175

G

roquin-1

ClinVar Annotator: match by term: Hereditary antithrombin deficiency

PMID:3663935 PMID:10823268 PMID:16956830 PMID:21264449 PMID:24889358 More...

NCBI chr25:55,167,418...55,258,964
Ensembl chr25:55,167,077...55,279,088

G

mitochondrial ribosomal protein S14

ClinVar Annotator: match by term: Hereditary antithrombin deficiency

NCBI chr25:54,231,605...54,240,724
Ensembl chr25:54,231,643...54,240,472

G

peroxiredoxin 6

ClinVar Annotator: match by term: Hereditary antithrombin deficiency

NCBI chr25:55,706,920...55,719,196
Ensembl chr25:55,706,885...55,718,665

G

RAB GTPase activating protein 1 like

ClinVar Annotator: match by term: Hereditary antithrombin deficiency

NCBI chr25:54,265,906...55,034,061

G

serpin family C member 1

susceptibility

ClinVar Annotator: match by term: Hereditary antithrombin deficiency | ClinVar Annotator: match by term: Reduced antithrombin III activity

OMIM
ClinVar
RGD

PMID:1325679 PMID:1360174 PMID:1421387 PMID:1469094 PMID:1483705 More...

NCBI chr25:55,271,823...55,289,855

G

solute carrier family 9 member C2 (putative)

ClinVar Annotator: match by term: Hereditary antithrombin deficiency

NCBI chr25:55,599,427...55,695,763
Ensembl chr25:55,601,011...55,693,207

G

testis expressed 50

ClinVar Annotator: match by term: Hereditary antithrombin deficiency

NCBI chr25:55,559,128...55,562,036

G

TNF superfamily member 18

ClinVar Annotator: match by term: Hereditary antithrombin deficiency

NCBI chr25:56,105,757...56,118,249
Ensembl chr25:56,106,584...56,118,758

G

TNF superfamily member 4

ClinVar Annotator: match by term: Hereditary antithrombin deficiency

NCBI chr25:55,714,291...55,998,009
Ensembl chr25:55,974,691...55,997,374

G

tenascin N

ClinVar Annotator: match by term: Hereditary antithrombin deficiency

NCBI chr25:54,107,304...54,231,578
Ensembl chr25:54,108,039...54,178,478

G

tenascin R

ClinVar Annotator: match by term: Hereditary antithrombin deficiency

NCBI chr25:53,526,477...53,942,278

G

zinc finger and BTB domain containing 37

ClinVar Annotator: match by term: Hereditary antithrombin deficiency

NCBI chr25:55,304,954...55,323,670
Ensembl chr25:55,306,282...55,323,162

ataxia with oculomotor apraxia type 1

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

aprataxin

susceptibility

ClinVar Annotator: match by term: APTX-related condition | ClinVar Annotator: match by term: Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia
DNA:insertion, missense mutations: :80A>G, 95C>T, 166_167insT (human)

OMIM
ClinVar
RGD

PMID:11176957 PMID:11294920 PMID:11586299 PMID:11586300 PMID:12196655 More...

NCBI chr12:47,239,094...47,346,528
Ensembl chr12:47,258,798...47,287,102

G

polynucleotide kinase 3'-phosphatase

ClinVar Annotator: match by term: Early-onset cerebellar ataxia with hypoalbuminemia

PMID:16199547 PMID:20118933 PMID:25728773 PMID:25741868 PMID:28492532 More...

NCBI chr 6:43,018,763...43,025,506
Ensembl chr 6:43,018,807...43,025,292

G

senataxin

ClinVar Annotator: match by term: Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia

NCBI chr12:5,773,122...5,872,372
Ensembl chr12:5,773,165...5,875,481

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 chr22:14,561,401...14,592,877
Ensembl chr22:14,565,282...14,592,873

G

RFT1 homolog

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

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

NCBI chr22:14,482,709...14,525,665
Ensembl chr22:14,479,361...14,525,618

autosomal dominant thrombophilia due to protein C deficiency

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

AMMECR1 like

ClinVar Annotator: match by term: Thrombophilia due to protein C deficiency, autosomal dominant

PMID:3185623 PMID:17152060 PMID:28492532

NCBI chr10:2,330,828...2,358,239
Ensembl chr10:2,335,031...2,358,391

G

bridging integrator 1

ClinVar Annotator: match by term: Thrombophilia due to protein C deficiency, autosomal dominant

PMID:3185623 PMID:17152060 PMID:28492532

NCBI chr10:3,112,605...3,173,522
Ensembl chr10:3,113,868...3,173,620

G

cytochrome P450 family 27 subfamily C member 1

ClinVar Annotator: match by term: Thrombophilia due to protein C deficiency, autosomal dominant

PMID:3185623 PMID:17152060 PMID:28492532

NCBI chr10:2,998,621...3,035,268

G

ERCC excision repair 3, TFIIH core complex helicase subunit

ClinVar Annotator: match by term: Thrombophilia due to protein C deficiency, autosomal dominant

PMID:3185623 PMID:17152060 PMID:28492532

NCBI chr10:2,926,410...2,963,802
Ensembl chr10:2,926,350...2,963,823

G

G protein-coupled receptor 17

ClinVar Annotator: match by term: Thrombophilia due to protein C deficiency, autosomal dominant

PMID:3185623 PMID:17152060 PMID:28492532

NCBI chr10:2,564,156...2,571,442

G

heparan sulfate 6-O-sulfotransferase 1

ClinVar Annotator: match by term: Thrombophilia due to protein C deficiency, autosomal dominant

PMID:3185623 PMID:17152060 PMID:28492532

NCBI chr10:1,918,019...1,971,060
Ensembl chr10:1,918,154...1,971,610

G

interacts with SUPT6H, CTD assembly factor 1

ClinVar Annotator: match by term: Thrombophilia due to protein C deficiency, autosomal dominant

PMID:3185623 PMID:17152060 PMID:28492532

NCBI chr10:2,688,690...2,747,457
Ensembl chr10:2,689,031...2,734,828

G

LIM zinc finger domain containing 2

ClinVar Annotator: match by term: Thrombophilia due to protein C deficiency, autosomal dominant

PMID:3185623 PMID:17152060 PMID:28492532

NCBI chr10:2,540,383...2,578,117
Ensembl chr10:2,543,091...2,579,332

G

mitogen-activated protein kinase kinase kinase 2

ClinVar Annotator: match by term: Thrombophilia due to protein C deficiency, autosomal dominant

PMID:3185623 PMID:17152060 PMID:28492532

NCBI chr10:2,831,265...2,921,782
Ensembl chr10:2,831,270...2,912,897

G

myosin VIIB

ClinVar Annotator: match by term: Thrombophilia due to protein C deficiency, autosomal dominant

PMID:3185623 PMID:17152060 PMID:28492532

NCBI chr10:2,578,211...2,657,617

G

RNA polymerase II subunit D

ClinVar Annotator: match by term: Thrombophilia due to protein C deficiency, autosomal dominant

PMID:3185623 PMID:17152060 PMID:28492532

NCBI chr10:2,361,957...2,372,343
Ensembl chr10:2,361,992...2,375,474

G

protein C, inactivator of coagulation factors Va and VIIIa

ClinVar Annotator: match by term: Hereditary thrombophilia due to congenital protein C deficiency | ClinVar Annotator: match by term: Thrombophilia due to protein C deficiency, autosomal dominant

PMID:1301954 PMID:1301959 PMID:1347608 PMID:1464619 PMID:1469096 More...

NCBI chr10:2,789,227...2,799,783
Ensembl chr10:2,789,277...2,799,531

G

Sin3A associated protein 130

ClinVar Annotator: match by term: Thrombophilia due to protein C deficiency, autosomal dominant

PMID:3185623 PMID:17152060 PMID:28492532

NCBI chr10:2,196,477...2,279,648
Ensembl chr10:2,197,622...2,279,703

G

SFT2 domain containing 3

ClinVar Annotator: match by term: Thrombophilia due to protein C deficiency, autosomal dominant

PMID:3185623 PMID:17152060 PMID:28492532

NCBI chr10:2,513,298...2,516,884
Ensembl chr10:2,514,945...2,515,589

G

UDP-glucose glycoprotein glucosyltransferase 1

ClinVar Annotator: match by term: Thrombophilia due to protein C deficiency, autosomal dominant

PMID:3185623 PMID:17152060 PMID:28492532

NCBI chr10:2,040,102...2,145,011
Ensembl chr10:2,038,397...2,144,963

G

WD repeat domain 33

ClinVar Annotator: match by term: Thrombophilia due to protein C deficiency, autosomal dominant

PMID:3185623 PMID:17152060 PMID:28492532

NCBI chr10:2,406,083...2,511,966
Ensembl chr10:2,406,100...2,515,016

autosomal dominant thrombophilia due to protein S deficiency

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

protein S

ClinVar Annotator: match by term: PROS1-related condition | ClinVar Annotator: match by term: Thrombophilia due to protein S deficiency, autosomal dominant

PMID:1547381 PMID:2143091 PMID:2526663 PMID:7545463 PMID:7579448 More...

NCBI chr22:86,728,089...86,840,413
Ensembl chr22:86,728,339...86,840,356

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

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

NCBI chr18:17,385,251...17,446,442

autosomal recessive thrombophilia due to protein C deficiency

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

protein C, inactivator of coagulation factors Va and VIIIa

ClinVar Annotator: match by term: Thrombophilia due to protein C deficiency, autosomal recessive

PMID:1301954 PMID:1301959 PMID:1347608 PMID:1347706 PMID:1348046 More...

NCBI chr10:2,789,227...2,799,783
Ensembl chr10:2,789,277...2,799,531

autosomal recessive thrombophilia due to protein S deficiency

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ARF like GTPase 13B

ClinVar Annotator: match by term: Thrombophilia due to protein S deficiency, autosomal recessive

PMID:9241758 PMID:16363235 PMID:22627709 PMID:28492532

NCBI chr22:86,648,924...86,722,006
Ensembl chr22:86,651,076...86,721,948

G

dihydrofolate reductase 2

ClinVar Annotator: match by term: Thrombophilia due to protein S deficiency, autosomal recessive

PMID:9241758 PMID:16363235 PMID:22627709 PMID:28492532

NCBI chr22:86,643,325...86,645,418

G

NOP2/Sun RNA methyltransferase 3

ClinVar Annotator: match by term: Thrombophilia due to protein S deficiency, autosomal recessive

PMID:9241758 PMID:16363235 PMID:22627709 PMID:28492532

NCBI chr22:86,576,985...86,643,030
Ensembl chr22:86,577,280...86,642,653

G

protein S

ClinVar Annotator: match by term: Thrombophilia due to protein S deficiency, autosomal recessive

PMID:1547381 PMID:1671337 PMID:2143091 PMID:2231208 PMID:2521801 More...

NCBI chr22:86,728,089...86,840,413
Ensembl chr22:86,728,339...86,840,356

G

syntaxin 19

ClinVar Annotator: match by term: Thrombophilia due to protein S deficiency, autosomal recessive

PMID:9241758 PMID:16363235 PMID:22627709 PMID:28492532

NCBI chr22:86,673,139...86,688,288
Ensembl chr22:86,673,654...86,691,972

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 2:17,753,713...17,765,134
Ensembl chr 2:17,753,394...17,764,566

G

CD40 ligand

disease_progression

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

OMIM
ClinVar
RGD

PMID:21841160 PMID:25741868 PMID:28492532

NCBI chr X:111,655,301...111,667,602
Ensembl chr X:111,655,397...111,666,639

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 chr16:6,593,288...6,598,980
Ensembl chr16:6,593,287...6,598,979

G

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

ClinVar Annotator: match by term: Common variable immunodeficiency

NCBI chr16:6,715,240...6,729,781
Ensembl chr16:6,715,278...6,729,864

G

arachidonate 12-lipoxygenase, 12S type

ClinVar Annotator: match by term: Common variable immunodeficiency

NCBI chr16:6,355,795...6,370,051
Ensembl chr16:6,356,058...6,369,738

G

arachidonate 12-lipoxygenase, 12R type

ClinVar Annotator: match by term: Common variable immunodeficiency

NCBI chr16:7,454,950...7,470,949
Ensembl chr16:7,455,044...7,469,934

G

arachidonate 15-lipoxygenase type B

ClinVar Annotator: match by term: Common variable immunodeficiency

NCBI chr16:7,425,533...7,435,896
Ensembl chr16:7,425,990...7,435,327

G

arachidonate epidermal lipoxygenase 3

ClinVar Annotator: match by term: Common variable immunodeficiency

NCBI chr16:7,478,775...7,500,931
Ensembl chr16:7,478,793...7,500,428

G

asialoglycoprotein receptor 1

ClinVar Annotator: match by term: Common variable immunodeficiency

NCBI chr16:6,546,173...6,553,213
Ensembl chr16:6,546,404...6,551,456

G

asialoglycoprotein receptor 2

ClinVar Annotator: match by term: Common variable immunodeficiency

G

ATPase Na+/K+ transporting subunit beta 2

ClinVar Annotator: match by term: Common variable immunodeficiency

NCBI chr16:7,030,016...7,035,620
Ensembl chr16:7,030,055...7,037,754

G

aurora kinase B

ClinVar Annotator: match by term: Common variable immunodeficiency

NCBI chr16:7,571,255...7,583,034
Ensembl chr16:7,570,538...7,582,959

G

BPTF associated chromatin complex component 1

ClinVar Annotator: match by term: Common variable immunodeficiency

NCBI chr16:6,373,906...6,376,811
Ensembl chr16:6,374,142...6,376,611

G

BCL6B transcription repressor

ClinVar Annotator: match by term: Common variable immunodeficiency

NCBI chr16:6,380,406...6,388,931
Ensembl chr16:6,382,384...6,390,716

G

BLOC-1 related complex subunit 6

ClinVar Annotator: match by term: Common variable immunodeficiency

NCBI chr16:7,567,792...7,570,428
Ensembl chr16:7,568,521...7,569,594

G

Bruton tyrosine kinase

ClinVar Annotator: match by term: Common variable immunodeficiency

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

NCBI chr X:89,690,569...89,727,420

G

CD19 molecule

CTD Direct Evidence: marker/mechanism

NCBI chr 5:26,140,703...26,145,447

G

CD40 ligand

ClinVar Annotator: match by term: Common variable immunodeficiency

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

NCBI chr X:111,655,301...111,667,602
Ensembl chr X:111,655,397...111,666,639

G

CD68 molecule

ClinVar Annotator: match by term: Common variable immunodeficiency

NCBI chr16:6,956,633...6,959,645
Ensembl chr16:6,957,212...6,959,042

G

CD81 molecule

CTD Direct Evidence: marker/mechanism

NCBI chr 1:2,190,896...2,211,838
Ensembl chr 1:2,190,845...2,211,389

G

chromodomain helicase DNA binding protein 3

ClinVar Annotator: match by term: Common variable immunodeficiency

NCBI chr16:7,274,634...7,300,831
Ensembl chr16:7,276,850...7,300,832

G

cholinergic receptor nicotinic beta 1 subunit

ClinVar Annotator: match by term: Common variable immunodeficiency

NCBI chr16:6,821,842...6,832,758
Ensembl chr16:6,822,065...6,833,768

G

claudin 7

ClinVar Annotator: match by term: Common variable immunodeficiency

NCBI chr16:6,632,695...6,635,994
Ensembl chr16:6,630,412...6,635,327

G

C-type lectin domain containing 10A

ClinVar Annotator: match by term: Common variable immunodeficiency

NCBI chr16:6,433,755...6,439,808
Ensembl chr16:6,433,573...6,437,509

G

centrobin, centriole duplication and spindle assembly protein

ClinVar Annotator: match by term: Common variable immunodeficiency

NCBI chr16:7,320,557...7,337,746
Ensembl chr16:7,320,586...7,338,369

G

complement C3d receptor 2

ClinVar Annotator: match by term: Immunoglobulin deficiency, late-onset

PMID:25741868 PMID:28492532

NCBI chr25:21,914,690...21,954,244
Ensembl chr25:21,919,393...21,953,659

G

CST telomere replication complex component 1

ClinVar Annotator: match by term: Common variable immunodeficiency

NCBI chr16:7,594,493...7,618,202
Ensembl chr16:7,594,219...7,615,754

G

CTD nuclear envelope phosphatase 1

ClinVar Annotator: match by term: Common variable immunodeficiency

NCBI chr16:6,617,609...6,625,261
Ensembl chr16:6,617,966...6,625,342

G

cytochrome b5 domain containing 1

ClinVar Annotator: match by term: Common variable immunodeficiency

NCBI chr16:7,245,272...7,249,804
Ensembl chr16:7,245,660...7,247,156

G

DNA cross-link repair 1C

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

NCBI chr 9:14,929,221...14,974,791
Ensembl chr 9:14,929,317...14,965,443

G

discs large MAGUK scaffold protein 4

ClinVar Annotator: match by term: Common variable immunodeficiency

NCBI chr16:6,562,953...6,592,247
Ensembl chr16:6,562,691...6,590,867

G

dynein axonemal heavy chain 2

ClinVar Annotator: match by term: Common variable immunodeficiency

NCBI chr16:7,097,581...7,220,263
Ensembl chr16:7,103,152...7,220,397

G

dishevelled segment polarity protein 2

ClinVar Annotator: match by term: Common variable immunodeficiency

NCBI chr16:6,599,056...6,608,613
Ensembl chr16:6,599,579...6,608,544

G

ephrin B3

ClinVar Annotator: match by term: Common variable immunodeficiency

NCBI chr16:7,087,116...7,093,457
Ensembl chr16:7,087,584...7,093,621

G

eukaryotic translation initiation factor 4A1

ClinVar Annotator: match by term: Common variable immunodeficiency

NCBI chr16:6,949,574...6,956,540
Ensembl chr16:6,949,628...6,956,026

G

eukaryotic translation initiation factor 5A

ClinVar Annotator: match by term: Common variable immunodeficiency

NCBI chr16:6,685,908...6,691,159

G

elongator acetyltransferase complex subunit 5

ClinVar Annotator: match by term: Common variable immunodeficiency

NCBI chr16:6,625,418...6,632,732
Ensembl chr16:6,625,723...6,635,327

G

F-box protein 39

ClinVar Annotator: match by term: Common variable immunodeficiency

NCBI chr16:6,137,561...6,152,853
Ensembl chr16:6,141,561...6,150,401

G

Fc fragment of IgG receptor IIa

protein:decreased expression:blood, monocyte

NCBI chr20:2,480,710...2,512,429

G

fibroblast growth factor 11

ClinVar Annotator: match by term: Common variable immunodeficiency

NCBI chr16:6,814,392...6,821,727
Ensembl chr16:6,818,208...6,821,721

G

FMR1 autosomal homolog 2

ClinVar Annotator: match by term: Common variable immunodeficiency

NCBI chr16:6,969,019...6,995,178
Ensembl chr16:6,967,941...6,995,170

G

GABA type A receptor-associated protein

ClinVar Annotator: match by term: Common variable immunodeficiency

NCBI chr16:6,614,478...6,616,516
Ensembl chr16:6,614,688...6,616,443

G

G protein pathway suppressor 2

ClinVar Annotator: match by term: Common variable immunodeficiency

NCBI chr16:6,690,831...6,694,245
Ensembl chr16:6,686,667...6,693,804

G

guanylate cyclase 2D, retinal

ClinVar Annotator: match by term: Common variable immunodeficiency

NCBI chr16:7,391,260...7,407,549
Ensembl chr16:7,392,419...7,406,305

G

hes family bHLH transcription factor 7

ClinVar Annotator: match by term: Common variable immunodeficiency

NCBI chr16:7,502,976...7,509,506
Ensembl chr16:7,503,932...7,506,448

G

inducible T cell costimulator

CTD Direct Evidence: marker/mechanism
OMIM:240500 | OMIM:607594 | OMIM:613493 | OMIM:613494 | OMIM:613495 | OMIM:613496 | OMIM:614699 | OMIM:614700 | OMIM:615577 | OMIM:615767

NCBI chr10:89,706,755...89,732,600
Ensembl chr10:89,726,489...89,732,944

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:128,781,975...128,816,039
Ensembl chr X:128,787,785...128,806,083

G

IKAROS family zinc finger 1

CTD Direct Evidence: marker/mechanism

NCBI chr21:8,398,902...8,500,431
Ensembl chr21:8,402,719...8,484,723

G

interleukin 21

ClinVar Annotator: match by term: IL21 DEFICIENCY

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

NCBI chr 7:69,859,793...69,872,237
Ensembl chr 7:69,863,535...69,872,025

G

interleukin 21 receptor

DNA:SNPs:exons:

NCBI chr 5:25,105,947...25,153,914
Ensembl chr 5:25,106,519...25,153,703

G

potassium voltage-gated channel subfamily A regulatory beta subunit 3

ClinVar Annotator: match by term: Common variable immunodeficiency

NCBI chr16:7,309,965...7,318,531

G

potassium channel tetramerization domain containing 11

ClinVar Annotator: match by term: Common variable immunodeficiency

NCBI chr16:6,730,139...6,733,225
Ensembl chr16:6,731,246...6,731,944

G

lysine demethylase 6B

ClinVar Annotator: match by term: Common variable immunodeficiency

NCBI chr16:7,221,769...7,241,230
Ensembl chr16:7,232,426...7,241,040

G

TNF superfamily member 13

ClinVar Annotator: match by term: Common variable immunodeficiency

NCBI chr16:6,935,073...6,938,792
Ensembl chr16:6,926,584...6,938,019

G

mannosidase beta

ClinVar Annotator: match by term: Common variable immunodeficiency

NCBI chr 7:50,725,249...50,860,041
Ensembl chr 7:50,725,248...50,859,995

G

mannose binding lectin 2

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

NCBI chr 9:78,389,534...78,394,753
Ensembl chr 9:78,389,947...78,396,079

G

mannose-P-dolichol utilization defect 1

ClinVar Annotator: match by term: Common variable immunodeficiency

NCBI chr16:6,961,117...6,965,991
Ensembl chr16:6,961,310...6,965,424

G

membrane spanning 4-domains A1

CTD Direct Evidence: marker/mechanism

NCBI chr 1:13,343,647...13,358,639
Ensembl chr 1:13,345,253...13,358,547

G

N-alpha-acetyltransferase 38, NatC auxiliary subunit

ClinVar Annotator: match by term: Common variable immunodeficiency

NCBI chr16:7,244,221...7,245,410
Ensembl chr16:7,244,227...7,245,081

G

neuralized E3 ubiquitin protein ligase 4

ClinVar Annotator: match by term: Common variable immunodeficiency

NCBI chr16:6,694,318...6,708,055
Ensembl chr16:6,694,187...6,707,979

G

nuclear factor kappa B subunit 1

ClinVar Annotator: match by term: Common variable immunodeficiency

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

NCBI chr 7:50,589,494...50,711,472
Ensembl chr 7:50,589,856...50,711,498

G

nuclear factor kappa B subunit 2

ClinVar Annotator: match by term: Common variable immunodeficiency

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

NCBI chr 9:95,426,193...95,434,560
Ensembl chr 9:95,427,785...95,434,570

G

neuroligin 2

ClinVar Annotator: match by term: Common variable immunodeficiency

NCBI chr16:6,781,510...6,796,304
Ensembl chr16:6,784,642...6,794,419

G

platelet and endothelial cell adhesion molecule 1

protein:decreased expression:T cell (human)

NCBI chr16:56,863,763...56,947,479
Ensembl chr16:56,880,934...56,950,999

G

period circadian regulator 1

ClinVar Annotator: match by term: Common variable immunodeficiency

NCBI chr16:7,520,122...7,536,176
Ensembl chr16:7,520,006...7,531,940

G

PHD finger protein 23

ClinVar Annotator: match by term: Common variable immunodeficiency

NCBI chr16:6,609,106...6,613,693
Ensembl chr16:6,609,087...6,613,690

G

phospholipid scramblase 3

ClinVar Annotator: match by term: Common variable immunodeficiency

NCBI chr16:6,765,320...6,770,568
Ensembl chr16:6,763,096...6,770,092

G

RNA polymerase II subunit A

ClinVar Annotator: match by term: Common variable immunodeficiency

NCBI chr16:6,860,487...6,889,054
Ensembl chr16:6,860,677...6,888,618

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 9:95,434,655...95,453,058
Ensembl chr 9:95,434,654...95,448,819

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 1:28,645,175...28,653,823
Ensembl chr 1:28,649,930...28,651,513

G

ribonuclease K

ClinVar Annotator: match by term: Common variable immunodeficiency

NCBI chr16:6,371,729...6,373,817

G

spermidine/spermine N1-acetyltransferase family member 2

ClinVar Annotator: match by term: Common variable immunodeficiency

NCBI chr16:7,001,087...7,003,538
Ensembl chr16:7,001,259...7,002,270

G

SUMO specific peptidase 3

ClinVar Annotator: match by term: Common variable immunodeficiency

NCBI chr16:6,939,231...6,948,831
Ensembl chr16:6,940,281...6,949,221

G

sex hormone binding globulin

ClinVar Annotator: match by term: Common variable immunodeficiency

NCBI chr16:7,002,380...7,012,170
Ensembl chr16:7,008,682...7,012,764

G

solute carrier family 13 member 5

ClinVar Annotator: match by term: Common variable immunodeficiency

NCBI chr16:6,060,445...6,089,867

G

solute carrier family 16 member 11

ClinVar Annotator: match by term: Common variable immunodeficiency

NCBI chr16:6,400,197...6,403,431

G

solute carrier family 16 member 13

ClinVar Annotator: match by term: Common variable immunodeficiency

NCBI chr16:6,394,311...6,399,151
Ensembl chr16:6,395,927...6,398,992

G

solute carrier family 2 member 4

ClinVar Annotator: match by term: Common variable immunodeficiency

NCBI chr16:6,654,626...6,660,640
Ensembl chr16:6,654,608...6,661,495

G

solute carrier family 35 member G6

ClinVar Annotator: match by term: Common variable immunodeficiency

NCBI chr16:6,857,216...6,859,391

G

SRY-box transcription factor 15

ClinVar Annotator: match by term: Common variable immunodeficiency

NCBI chr16:6,965,969...6,967,975
Ensembl chr16:6,962,350...6,967,799

G

spermatid maturation 1

ClinVar Annotator: match by term: Common variable immunodeficiency

NCBI chr16:6,796,398...6,798,093
Ensembl chr16:6,796,842...6,798,058

G

SPEM family member 2

ClinVar Annotator: match by term: Common variable immunodeficiency

NCBI chr16:6,800,970...6,803,726
Ensembl chr16:6,801,835...6,803,655

G

tektin 1

ClinVar Annotator: match by term: Common variable immunodeficiency

NCBI chr16:6,161,826...6,184,735
Ensembl chr16:6,159,008...6,184,711

G

transmembrane protein 102

ClinVar Annotator: match by term: Common variable immunodeficiency

NCBI chr16:6,811,966...6,814,303
Ensembl chr16:6,812,203...6,814,961

G

transmembrane protein 107

ClinVar Annotator: match by term: Common variable immunodeficiency

NCBI chr16:7,554,771...7,558,413
Ensembl chr16:7,555,009...7,557,085

G

transmembrane protein 256

ClinVar Annotator: match by term: Common variable immunodeficiency

NCBI chr16:6,779,412...6,780,553
Ensembl chr16:6,779,067...6,780,693

G

transmembrane protein 88

ClinVar Annotator: match by term: Common variable immunodeficiency

NCBI chr16:7,242,427...7,243,633
Ensembl chr16:7,242,600...7,243,239

G

transmembrane protein 95

ClinVar Annotator: match by term: Common variable immunodeficiency

NCBI chr16:6,733,315...6,735,500
Ensembl chr16:6,733,479...6,734,906

G

TNF receptor superfamily member 13B

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 chr16:15,980,927...16,012,572
Ensembl chr16:15,981,392...15,993,593

G

TNF receptor superfamily member 13C

ClinVar Annotator: match by term: Common Variable Immune Deficiency, Recessive

NCBI chr19:24,457,381...24,459,438

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 chr16:6,926,302...6,935,070

G

tyrosine kinase non receptor 1

ClinVar Annotator: match by term: Common variable immunodeficiency

NCBI chr16:6,754,825...6,765,336
Ensembl chr16:6,758,127...6,766,886

G

tumor protein p53

ClinVar Annotator: match by term: Common variable immunodeficiency

NCBI chr16:7,047,686...7,065,567
Ensembl chr16:7,045,146...7,066,223

G

trafficking protein particle complex subunit 1

ClinVar Annotator: match by term: Common variable immunodeficiency

NCBI chr16:7,318,771...7,320,461
Ensembl chr16:7,318,911...7,320,343

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 chr14:60,117,116...60,271,937
Ensembl chr14:60,118,750...60,250,167

G

vesicle associated membrane protein 2

ClinVar Annotator: match by term: Common variable immunodeficiency

NCBI chr16:7,539,098...7,542,466

G

WD repeat containing antisense to TP53

ClinVar Annotator: match by term: Common variable immunodeficiency

NCBI chr16:7,065,531...7,085,590
Ensembl chr16:7,066,333...7,085,625

G

XIAP associated factor 1

ClinVar Annotator: match by term: Common variable immunodeficiency

NCBI chr16:6,117,228...6,135,535
Ensembl chr16:6,118,094...6,134,902

G

Y-box binding protein 2

ClinVar Annotator: match by term: Common variable immunodeficiency

NCBI chr16:6,660,861...6,667,495

G

zinc finger and BTB domain containing 4

ClinVar Annotator: match by term: Common variable immunodeficiency

NCBI chr16:6,836,070...6,855,523
Ensembl chr16:6,835,954...6,860,133

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 chr10:89,074,333...89,314,144
Ensembl chr10:89,075,798...89,181,235

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 chr10:87,389,130...87,473,134

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 chr10:88,103,442...88,302,578
Ensembl chr10:88,106,072...88,303,734

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 chr10:87,133,453...87,303,521
Ensembl chr10:87,133,461...87,302,735

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 chr10:88,650,436...88,735,369
Ensembl chr10:88,651,152...88,735,384

G

caspase 10

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

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

NCBI chr10:86,830,101...86,884,729
Ensembl chr10:86,830,589...86,871,200

G

caspase 8

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

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

NCBI chr10:86,888,654...86,944,159
Ensembl chr10:86,916,527...86,943,829

G

CD28 molecule

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

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

NCBI chr10:89,471,710...89,505,152
Ensembl chr10:89,471,730...89,500,387

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 chr10:87,499,225...87,592,748
Ensembl chr10:87,499,808...87,589,730

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 chr10:86,768,252...86,819,963
Ensembl chr10:86,782,240...86,816,652

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 chr10:89,637,176...89,644,436
Ensembl chr10:89,638,314...89,642,344

G

cytochrome P450 family 20 subfamily A member 1

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

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

NCBI chr10:88,986,394...89,051,344
Ensembl chr10:88,987,016...89,042,537

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 chr10:88,370,979...88,513,138

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 chr10:86,945,622...87,009,252
Ensembl chr10:86,946,674...87,007,579

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 chr10:87,734,263...87,738,676
Ensembl chr10:87,734,872...87,736,596

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 chr10:88,492,255...88,609,268
Ensembl chr10:88,517,716...88,569,031

G

inducible T cell costimulator

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

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

NCBI chr10:89,706,755...89,732,600
Ensembl chr10:89,726,489...89,732,944

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 chr10:87,328,555...87,382,894
Ensembl chr10:87,328,962...87,382,232

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 chr10:88,763,320...88,965,040
Ensembl chr10:88,764,111...88,963,364

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 chr10:86,723,212...86,735,837
Ensembl chr10:86,723,253...86,735,980

G

nuclear factor kappa B subunit 2

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

PMID:24140114 PMID:28492532

NCBI chr 9:95,426,193...95,434,560
Ensembl chr 9:95,427,785...95,434,570

G

NOP58 ribonucleoprotein

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

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

NCBI chr10:87,989,687...88,026,774
Ensembl chr10:87,989,699...88,026,904

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 chr10:89,191,220...89,294,746
Ensembl chr10:89,192,772...89,250,757

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 chr10:87,096,768...87,127,131
Ensembl chr10:87,096,838...87,127,209

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 chr10:87,917,324...87,957,152

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 chr10:87,307,141...87,326,618
Ensembl chr10:87,307,903...87,327,299

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 chr16:15,980,927...16,012,572
Ensembl chr16:15,981,392...15,993,593

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 chr10:87,022,038...87,096,685
Ensembl chr10:87,022,043...87,096,666

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 chr10:88,616,540...88,649,743
Ensembl chr10:88,616,797...88,649,418

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 9:95,426,193...95,434,560
Ensembl chr 9:95,427,785...95,434,570

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 9:95,434,655...95,453,058
Ensembl chr 9:95,434,654...95,448,819

G

stromal interaction molecule 1

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

PMID:25741868 PMID:28492532

NCBI chr 1:62,651,472...62,865,992
Ensembl chr 1:62,651,290...62,865,986

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 7:69,859,793...69,872,237
Ensembl chr 7:69,863,535...69,872,025

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 7:50,589,494...50,711,472
Ensembl chr 7:50,589,856...50,711,498

G

NFKB inhibitor delta

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

NCBI chr 6:30,800,122...30,812,991
Ensembl chr 6:30,799,204...30,811,141

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 chr21:8,398,902...8,500,431
Ensembl chr21:8,402,719...8,484,723

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 chr25:72,338,190...72,501,999
Ensembl chr25:72,337,590...72,501,988

G

beta-1,3-N-acetylgalactosaminyltransferase 2

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

NCBI chr25:72,614,998...72,677,383
Ensembl chr25:72,611,475...72,677,356

G

cytochrome c oxidase assembly factor 6

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

NCBI chr25:71,550,057...71,561,012
Ensembl chr25:71,550,617...71,560,786

G

geranylgeranyl diphosphate synthase 1

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

NCBI chr25:72,502,333...72,517,349

G

G protein subunit gamma 4

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

NCBI chr25:72,723,600...72,817,255

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

NCBI chr25:71,774,447...71,779,759
Ensembl chr25:71,773,588...71,779,835

G

potassium two pore domain channel subfamily K member 1

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

NCBI chr25:70,820,089...70,873,654
Ensembl chr25:70,819,706...70,873,961

G

lysosomal trafficking regulator

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

NCBI chr25:72,827,997...73,048,645
Ensembl chr25:72,828,006...72,991,970

G

nidogen 1

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

NCBI chr25:73,130,966...73,227,385
Ensembl chr25:73,130,448...73,227,349

G

RNA binding motif protein 34

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

NCBI chr25:72,306,821...72,335,619
Ensembl chr25:72,304,264...72,334,359

G

solute carrier family 35 member F3

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

NCBI chr25:71,101,951...71,507,323
Ensembl chr25:71,416,089...71,506,080

G

TAR (HIV-1) RNA binding protein 1

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

NCBI chr25:71,563,505...71,648,764
Ensembl chr25:71,568,441...71,648,344

G

tubulin folding cofactor E

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

NCBI chr25:72,544,942...72,616,716
Ensembl chr25:72,545,012...72,612,622

G

translocase of outer mitochondrial membrane 20

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

NCBI chr25:72,286,666...72,304,129

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

NCBI chr22:52,887,374...52,967,728
Ensembl chr22:52,924,819...52,967,830

G

SEC61 translocon subunit alpha 1

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

PMID:25741868 PMID:28782633

NCBI chr22:52,977,101...52,994,766
Ensembl chr22:52,976,872...52,992,039

G

telomerase reverse transcriptase

ClinVar Annotator: match by term: Decreased circulating antibody concentration

PMID:25741868 PMID:28492532

NCBI chr 4:1,082,894...1,119,373
Ensembl chr 4:1,083,384...1,117,468

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 chr16:18,213,284...18,241,261
Ensembl chr16:18,213,487...18,239,271

G

alkB homolog 5, RNA demethylase

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

NCBI chr16:17,221,643...17,249,038
Ensembl chr16:17,222,378...17,249,117

G

ATP synthase mitochondrial F1 complex assembly factor 2

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

NCBI chr16:17,058,404...17,079,521

G

B9 domain containing 1

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

NCBI chr16:17,925,741...17,945,879
Ensembl chr16:17,925,134...17,945,878

G

CD19 molecule

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

PMID:25741868 PMID:28492532

NCBI chr 5:26,140,703...26,145,447

G

COP9 signalosome subunit 3

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

NCBI chr16:16,280,490...16,331,538

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 chr25:21,914,690...21,954,244
Ensembl chr25:21,919,393...21,953,659

G

dynein regulatory complex subunit 3

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

NCBI chr16:17,009,632...17,056,744
Ensembl chr16:17,010,290...17,056,733

G

developmentally regulated GTP binding protein 2

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

NCBI chr16:17,122,529...17,147,680
Ensembl chr16:17,122,561...17,147,845

G

epsin 2

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

NCBI chr16:17,820,896...17,919,374
Ensembl chr16:17,864,423...17,920,426

G

envoplakin like

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

NCBI chr16:17,544,400...17,546,398

G

family with sequence similarity 83 member G

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

NCBI chr16:17,671,458...17,703,538
Ensembl chr16:17,668,751...17,702,726

G

folliculin

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

NCBI chr16:16,245,840...16,271,465
Ensembl chr16:16,245,715...16,267,698

G

FLII actin remodeling protein

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

NCBI chr16:17,285,400...17,300,210
Ensembl chr16:17,285,724...17,300,041

G

GID complex subunit 4 homolog

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

NCBI chr16:17,079,643...17,108,651
Ensembl chr16:17,079,800...17,105,526

G

GRB2 related adaptor protein

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

NCBI chr16:17,721,294...17,747,366
Ensembl chr16:17,720,269...17,747,319

G

LLGL scribble cell polarity complex component 1

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

NCBI chr16:17,266,648...17,285,460
Ensembl chr16:17,266,684...17,284,076

G

sodium/glucose cotransporter 5

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

NCBI chr16:17,651,157...17,721,260
Ensembl chr16:17,652,357...17,721,048

G

trans-golgi network vesicle protein 23 homolog B

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

G

mitogen-activated protein kinase 7

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

NCBI chr16:17,962,827...17,969,027
Ensembl chr16:17,964,408...17,968,714

G

mediator complex subunit 9

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

NCBI chr16:16,513,144...16,527,880
Ensembl chr16:16,512,898...16,527,875

G

microfibril associated protein 4

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

NCBI chr16:17,968,925...17,972,676
Ensembl chr16:17,969,945...17,972,978

G

mitochondrial elongation factor 2

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

NCBI chr16:17,301,133...17,306,791
Ensembl chr16:17,301,629...17,308,780

G

myosin phosphatase Rho interacting protein

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

NCBI chr16:16,075,755...16,226,515
Ensembl chr16:16,075,698...16,214,831

G

myosin XVA

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

NCBI chr16:17,157,275...17,217,609
Ensembl chr16:17,157,490...17,218,009

G

5',3'-nucleotidase, mitochondrial

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

NCBI chr16:16,348,151...16,385,203
Ensembl chr16:16,348,346...16,384,490

G

phosphatidylethanolamine N-methyltransferase

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

NCBI chr16:16,540,096...16,626,251
Ensembl chr16:16,539,985...16,611,279

G

phospholipase D family member 6

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

NCBI chr16:16,237,179...16,240,976

G

phosphoribosyl pyrophosphate synthetase associated protein 2

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

NCBI chr16:17,573,627...17,634,290

G

retinoic acid induced 1

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

NCBI chr16:16,717,767...16,847,014
Ensembl chr16:16,760,189...16,849,346

G

ras related dexamethasone induced 1

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

NCBI chr16:16,529,075...16,531,085
Ensembl chr16:16,528,896...16,531,095

G

ring finger protein 112

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

NCBI chr16:17,996,532...18,002,842
Ensembl chr16:17,996,915...18,001,716

G

serine hydroxymethyltransferase 1

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

NCBI chr16:17,371,704...17,408,499

G

solute carrier family 47 member 1

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

NCBI chr16:18,124,681...18,168,702
Ensembl chr16:18,125,252...18,169,552

G

SMCR8-C9orf72 complex subunit

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

NCBI chr16:17,358,952...17,367,323
Ensembl chr16:17,359,577...17,366,851

G

sterol regulatory element binding transcription factor 1

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

NCBI chr16:16,847,603...16,874,239
Ensembl chr16:16,845,491...16,859,554

G

TBC1 domain family member 28

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

NCBI chr16:17,527,858...17,532,828

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 chr16:15,980,927...16,012,572
Ensembl chr16:15,981,392...15,993,593

G

TNF receptor superfamily member 13C

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

PMID:25741868 PMID:28492532

NCBI chr19:24,457,381...24,459,438

G

target of myb1 like 2 membrane trafficking protein

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

NCBI chr16:16,881,219...17,009,552
Ensembl chr16:16,881,156...17,009,492

G

DNA topoisomerase III alpha

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

NCBI chr16:17,315,466...17,358,863
Ensembl chr16:17,316,048...17,358,580

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 5:26,140,703...26,145,447

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 (P1PK blood group)

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

NCBI chr19:25,247,930...25,278,549
Ensembl chr19:25,248,687...25,249,748

G

aconitase 2

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

PMID:19666484 PMID:28492532

NCBI chr19:24,008,602...24,068,346
Ensembl chr19:24,008,667...24,071,356

G

coiled-coil domain containing 134

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

PMID:19666484 PMID:28492532

NCBI chr19:24,332,293...24,358,056
Ensembl chr19:24,332,316...24,357,583

G

centromere protein M

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

PMID:19666484 PMID:28492532

NCBI chr19:24,471,420...24,481,271
Ensembl chr19:24,471,178...24,481,239

G

chondroadherin like

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

NCBI chr19:23,772,516...23,785,210
Ensembl chr19:23,778,433...23,783,250

G

cold shock domain containing C2

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

PMID:19666484 PMID:28492532

NCBI chr19:24,102,231...24,117,242
Ensembl chr19:24,112,447...24,115,453

G

cytochrome b5 reductase 3

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

NCBI chr19:25,172,513...25,191,139

G

cytochrome P450 family 2 subfamily D member 6

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

NCBI chr19:24,667,207...24,672,580
Ensembl chr19:24,667,282...24,671,513

G

desumoylating isopeptidase 1

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

PMID:19666484 PMID:28492532

NCBI chr19:24,135,266...24,160,391
Ensembl chr19:24,134,802...24,160,401

G

E1A binding protein p300

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

NCBI chr19:23,634,132...23,726,095
Ensembl chr19:23,634,571...23,724,979

G

L3MBTL histone methyl-lysine binding protein 2

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

NCBI chr19:23,749,894...23,774,749
Ensembl chr19:23,750,212...23,776,947

G

serine hydrolase like 2

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

NCBI chr19:25,028,646...25,132,117

G

meiotic double-stranded break formation protein 1

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

PMID:19666484 PMID:28492532

NCBI chr19:24,233,516...24,331,176
Ensembl chr19:24,231,807...24,331,022

G

alpha-N-acetylgalactosaminidase

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

PMID:19666484 PMID:28492532

NCBI chr19:24,589,133...24,607,753
Ensembl chr19:24,592,409...24,607,682

G

NADH:ubiquinone oxidoreductase subunit A6

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

NCBI chr19:24,622,172...24,630,977

G

NFAT activating protein with ITAM motif 1

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

NCBI chr19:24,913,474...24,964,803
Ensembl chr19:24,918,238...24,964,033

G

PH domain containing endocytic trafficking adaptor 2

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

NCBI chr19:24,608,631...24,616,343
Ensembl chr19:24,614,192...24,614,971

G

PHD finger protein 5A

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

PMID:19666484 PMID:28492532

NCBI chr19:23,998,277...24,008,504
Ensembl chr19:23,998,127...24,008,173

G

phosphomannomutase 1

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

PMID:19666484 PMID:28492532

NCBI chr19:24,115,717...24,128,869
Ensembl chr19:24,118,481...24,128,830

G

DNA polymerase delta interacting protein 3

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

NCBI chr19:25,137,631...25,167,669
Ensembl chr19:25,137,008...25,167,859

G

RNA polymerase III subunit H

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

PMID:19666484 PMID:28492532

NCBI chr19:24,068,205...24,082,648
Ensembl chr19:24,068,826...24,082,611

G

Ran GTPase activating protein 1

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

PMID:19666484 PMID:28492532

NCBI chr19:23,789,839...23,829,653
Ensembl chr19:23,788,241...23,829,631

G

ring-box 1

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

NCBI chr19:23,500,361...23,521,676
Ensembl chr19:23,500,356...23,522,723

G

ribosomal RNA processing 7 homolog A

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

G

septin 3

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

PMID:19666484 PMID:28492532

NCBI chr19:24,503,235...24,532,092

G

shisa family member 8

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

PMID:19666484 PMID:28492532

NCBI chr19:24,441,962...24,447,204

G

single-pass membrane protein with aspartate rich tail 1

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

NCBI chr19:24,616,590...24,620,294
Ensembl chr19:24,616,523...24,618,997

G

small nuclear ribonucleoprotein 13

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

PMID:19666484 PMID:28492532

NCBI chr19:24,209,356...24,223,431
Ensembl chr19:24,206,653...24,216,686

G

sterol regulatory element binding transcription factor 2

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

PMID:19666484 PMID:28492532

NCBI chr19:24,364,725...24,439,851
Ensembl chr19:24,364,911...24,440,014

G

transcription factor 20

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

NCBI chr19:24,693,036...24,877,150
Ensembl chr19:24,692,374...24,853,507

G

TEF transcription factor, PAR bZIP family member

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

PMID:19666484 PMID:28492532

NCBI chr19:23,910,015...23,939,935
Ensembl chr19:23,910,119...23,940,043

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 chr19:24,457,381...24,459,438

G

transducer of ERBB2, 2

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

PMID:19666484 PMID:28492532

NCBI chr19:23,975,676...23,985,701
Ensembl chr19:23,975,979...23,977,013

G

WBP2 N-terminal like

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

PMID:19666484 PMID:28492532

NCBI chr19:24,533,727...24,573,482
Ensembl chr19:24,554,895...24,567,023

G

X-prolyl aminopeptidase 3

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

NCBI chr19:23,413,111...23,473,293
Ensembl chr19:23,413,215...23,473,170

G

X-ray repair cross complementing 6

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

PMID:19666484 PMID:28492532

NCBI chr19:24,160,459...24,204,237
Ensembl chr19:24,160,483...24,206,320

G

zinc finger CCCH-type containing 7B

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

PMID:19666484 PMID:28492532

NCBI chr19:23,840,088...23,902,575
Ensembl chr19:23,862,120...23,902,665

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 1:13,343,647...13,358,639
Ensembl chr 1:13,345,253...13,358,547

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 1:2,190,896...2,211,838
Ensembl chr 1:2,190,845...2,211,389

common variable immunodeficiency 7

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

complement component 4 binding protein alpha

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

NCBI chr25:22,169,355...22,254,331

G

complement component 4 binding protein beta

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

NCBI chr25:22,258,540...22,270,316
Ensembl chr25:22,258,559...22,269,110

G

CD34 molecule

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

NCBI chr25:21,534,969...21,559,951
Ensembl chr25:21,534,983...21,561,215

G

CD46 molecule

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

NCBI chr25:21,650,825...21,693,898
Ensembl chr25:21,655,969...21,693,878

G

CD55 molecule (Cromer blood group)

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

NCBI chr25:22,055,138...22,092,472
Ensembl chr25:22,073,629...22,092,173

G

complement C3b/C4b receptor 1 (Knops blood group)

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

NCBI chr25:21,787,237...21,909,462

G

complement C3b/C4b receptor 1 like

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

NCBI chr25:21,713,661...21,780,968

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 chr25:21,914,690...21,954,244
Ensembl chr25:21,919,393...21,953,659

G

chromosome unknown C1orf116 homolog

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

NCBI chr25:22,326,726...22,336,655
Ensembl chr25:22,326,530...22,336,368

G

Fc mu receptor

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

NCBI chr25:22,435,252...22,453,582
Ensembl chr25:22,435,339...22,447,732

G

interleukin 10

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

NCBI chr25:22,590,389...22,595,877
Ensembl chr25:22,590,962...22,594,836

G

interleukin 19

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

NCBI chr25:22,514,199...22,523,680
Ensembl chr25:22,514,559...22,520,499

G

interleukin 20

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

NCBI chr25:22,486,860...22,494,210
Ensembl chr25:22,488,338...22,491,129

G

interleukin 24

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

NCBI chr25:22,453,579...22,460,361
Ensembl chr25:22,454,382...22,459,757

G

high affinity immunoglobulin alpha and immunoglobulin mu Fc receptor

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

NCBI chr25:22,389,223...22,398,341
Ensembl chr25:22,389,314...22,398,499

G

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

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

NCBI chr25:22,277,692...22,306,057
Ensembl chr25:22,286,305...22,305,490

G

polymeric immunoglobulin receptor

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

NCBI chr25:22,409,723...22,427,894
Ensembl chr25:22,409,999...22,427,949

G

plexin A2

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

NCBI chr25:21,201,867...21,424,529
Ensembl chr25:21,202,014...21,419,521

G

YOD1 deubiquitinase

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

NCBI chr25:22,307,703...22,311,919
Ensembl chr25:22,307,778...22,309,716

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 7:96,714,031...97,606,153

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 7:97,173,010...97,177,863
Ensembl chr 7:97,176,195...97,177,274

Congenital Thrombotic Disease, due to Protein C Deficiency

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

protein C, inactivator of coagulation factors Va and VIIIa

ClinVar Annotator: match by term: Reduced protein C activity

PMID:1301954 PMID:1301959 PMID:1511988 PMID:1511989 PMID:1596024 More...

NCBI chr10:2,789,227...2,799,783
Ensembl chr10:2,789,277...2,799,531

cryoglobulinemia

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ATP binding cassette subfamily B member 1

susceptibility

associated with hepatitis C;DNA:SNP: :3435C>T(human)

NCBI chr21:61,211,044...61,430,691
Ensembl chr21:61,322,748...61,529,274

G

CD86 molecule

associated with Hepatitis C, Chronic;protein:increased expression:peripheral blood, B cell (human)

NCBI chr22:58,741,534...58,805,417
Ensembl chr22:58,741,525...58,805,366

G

C-X-C motif chemokine ligand 10

associated with hepatitis C; protein:increased expression:serum

NCBI chr 7:24,526,657...24,529,193
Ensembl chr 7:24,526,680...24,529,130

G

interferon lambda 3

severity

associated with Hepatitis C, Chronic;DNA:SNP:enhancer: (rs12979860) (human)

NCBI chr 6:33,843,140...33,845,444

G

transcobalamin 2

associated with Glomerulonephritis;protein:increased expression:serum:

NCBI chr19:13,489,849...13,511,360
Ensembl chr19:13,490,645...13,511,810

G

tumor necrosis factor

protein:increased expression:serum

G

thymic stromal lymphopoietin

NCBI chr23:14,419,820...14,423,331

cryoglobulinemic vasculitis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

activation induced cytidine deaminase

associated with Chronic Hepatitis C; mRNA:increased expression:B cell, CD19-positive (human)

NCBI chr11:8,426,920...8,438,331
Ensembl chr11:8,428,922...8,431,641

G

thymic stromal lymphopoietin

associated with Chronic Hepatitis C; mRNA, protein:increased expression:skin, serum (human)

NCBI chr23:14,419,820...14,423,331

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

NCBI chr X:111,655,301...111,667,602
Ensembl chr X:111,655,397...111,666,639

G

uracil DNA glycosylase

Hyper-IgM syndrome 5, OMIM:608106

NCBI chr11:104,302,507...104,325,160

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:128,768,028...128,788,366
Ensembl chr X:128,770,268...128,786,961

G

inhibitor of nuclear factor kappa B kinase regulatory subunit gamma

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

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

NCBI chr X:128,781,975...128,816,039
Ensembl chr X:128,787,785...128,806,083

Familial Mixed Cryoglobulinemia

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

Fc fragment of IgG receptor IIIa

treatment

DNA:polymorphism: :p.V176F (human)

NCBI chr20:2,466,492...2,475,579

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 chr16:63,840,693...63,863,162
Ensembl chr16:63,840,859...63,863,296

G

interleukin 4 receptor

no_association

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

NCBI chr 5:25,019,638...25,069,732
Ensembl chr 5:25,046,701...25,070,015

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 4:52,174,893...52,232,475
Ensembl chr 4:52,174,312...52,214,584

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 chr16:59,372,171...59,431,434
Ensembl chr16:59,374,889...59,410,857

G

signal transducer and activator of transcription 5B

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

NCBI chr16:63,997,486...64,070,392
Ensembl chr16:63,997,441...64,070,445

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

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

NCBI chr16:63,877,884...63,957,894
Ensembl chr16:63,922,862...63,957,984

G

signal transducer and activator of transcription 5A

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

NCBI chr16:63,959,265...63,986,627
Ensembl chr16:63,960,515...63,985,026

hyper IgE recurrent infection syndrome 2

term browser

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Object Name

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Evidence

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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 chr16:72,004,087...72,061,889

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

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

NCBI chr12:79,060,579...79,298,145
Ensembl chr12:79,060,425...79,298,164

G

KN motif and ankyrin repeat domains 1

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

NCBI chr12:78,775,214...79,015,538
Ensembl chr12:78,774,788...78,973,851

G

Zn regulated GTPase metalloprotein activator 1A

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

NCBI chr12:79,335,976...79,387,793

hyper IgE recurrent infection syndrome 3

term browser

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Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

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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 2:38,020,915...38,081,559
Ensembl chr 2:38,028,765...38,080,814

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 4:52,174,893...52,232,475
Ensembl chr 4:52,174,312...52,214,584

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 chr16:72,004,087...72,061,889

G

doublesex and mab-3 related transcription factor 1

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

NCBI chr12:78,551,312...78,679,517

G

dedicator of cytokinesis 8

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 chr12:79,060,579...79,298,145
Ensembl chr12:79,060,425...79,298,164

G

DOP1 leucine zipper like protein A

ClinVar Annotator: match by term: Hyper-IgE syndrome

NCBI chr13:7,739,401...7,845,309
Ensembl chr13:7,770,658...7,845,005

G

interferon gamma

CTD Direct Evidence: marker/mechanism

NCBI chr11:63,785,493...63,791,071
Ensembl chr11:63,786,041...63,790,473

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 chr12:78,775,214...79,015,538
Ensembl chr12:78,774,788...78,973,851

G

phosphoglucomutase 3

ClinVar Annotator: match by term: Hyper-IgE syndrome

PMID:3500672 PMID:24698316

NCBI chr13:7,841,724...7,871,013
Ensembl chr13:7,844,765...7,871,002

G

signal transducer and activator of transcription 3

ClinVar Annotator: match by term: Hyper-IgE syndrome

PMID:17881745 PMID:18591412 PMID:18602572 PMID:18706697 PMID:18978467 More...

NCBI chr16:63,877,884...63,957,894
Ensembl chr16:63,922,862...63,957,984

G

Zn regulated GTPase metalloprotein activator 1A

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

NCBI chr12:79,335,976...79,387,793

hyper IgM syndrome

term browser

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Object Name

Qualifiers

Evidence

Notes

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PubMed Reference(s)

RGD Reference(s)

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G

activation induced cytidine deaminase

CTD Direct Evidence: marker/mechanism

NCBI chr11:8,426,920...8,438,331
Ensembl chr11:8,428,922...8,431,641

G

CD40 molecule

CTD Direct Evidence: marker/mechanism

NCBI chr 2:17,753,713...17,765,134
Ensembl chr 2:17,753,394...17,764,566

G

uracil DNA glycosylase

CTD Direct Evidence: marker/mechanism

NCBI chr11:104,302,507...104,325,160

Hyper-IgE Recurrent Infection Syndrome 5

term browser

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PubMed Reference(s)

RGD Reference(s)

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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 chr20:9,345,723...9,418,963
Ensembl chr20:9,361,152...9,396,610

Hyper-IgE Recurrent Infection Syndrome 6

term browser

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PubMed Reference(s)

RGD Reference(s)

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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 chr11:53,005,378...53,020,899
Ensembl chr11:53,006,145...53,021,203

Hypergammaglobulinemia

term browser

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PubMed Reference(s)

RGD Reference(s)

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G

beta-2-microglobulin

CTD Direct Evidence: therapeutic

NCBI chr26:38,331,818...38,338,785
Ensembl chr26:38,331,442...38,338,809

hyperimmunoglobulin syndrome

term browser

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Object Name

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PubMed Reference(s)

RGD Reference(s)

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G

activation induced cytidine deaminase

onset
susceptibility

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)
DNA:splice-site mutation:intron:IVS2+1G>T (human)

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

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

NCBI chr11:8,426,920...8,438,331
Ensembl chr11:8,428,922...8,431,641

G

CD40 molecule

DNA:mutations:exons (human)

NCBI chr 2:17,753,713...17,765,134
Ensembl chr 2:17,753,394...17,764,566

hyperimmunoglobulinemia D periodic fever syndrome

term browser

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Object Name

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Source

PubMed Reference(s)

RGD Reference(s)

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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 chr11:104,794,428...104,812,761
Ensembl chr11:104,792,228...104,812,527

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 chr11:104,812,882...104,837,089
Ensembl chr11:104,813,846...104,835,517

G

VPS41 subunit of HOPS complex

ClinVar Annotator: match by term: Hyperimmunoglobulinemia D

PMID:25741868 PMID:33764426 PMID:33851776

NCBI chr21:19,629,271...19,814,360
Ensembl chr21:19,629,282...19,817,649

Hypoalbuminemia

term browser

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PubMed Reference(s)

RGD Reference(s)

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G

albumin

treatment

CTD Direct Evidence: marker/mechanism

PMID:9034259 PMID:10337936

NCBI chr 7:21,872,036...21,890,095
Ensembl chr 7:21,876,132...21,891,407

G

interleukin 6

CTD Direct Evidence: marker/mechanism

NCBI chr21:35,577,513...35,582,385
Ensembl chr21:35,577,939...35,582,237

G

TNF receptor superfamily member 1B

CTD Direct Evidence: marker/mechanism

NCBI chr20:119,590,621...119,633,562
Ensembl chr20:119,590,325...119,633,497

Hypoproteinemia

term browser

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PubMed Reference(s)

RGD Reference(s)

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G

albumin

susceptibility

PMID:1690892 PMID:7937781

RGD:1599028 RGD:734959

NCBI chr 7:21,872,036...21,890,095
Ensembl chr 7:21,876,132...21,891,407

G

apolipoprotein A1

NCBI chr 1:108,201,967...108,203,902
Ensembl chr 1:108,201,439...108,203,609

G

beta-2-microglobulin

susceptibility

DNA:transversion:exon;913G>C

NCBI chr26:38,331,818...38,338,785
Ensembl chr26:38,331,442...38,338,809

G

lipase C, hepatic type

protein:reduced expression:plasma (rat)

NCBI chr26:24,946,843...25,109,338
Ensembl chr26:24,946,673...25,087,921

G

ribosomal protein S6 kinase B1

associated with Liver Cirrhosis, Experimental

NCBI chr16:33,498,098...33,556,553
Ensembl chr16:33,497,392...33,556,453

IMMUNODEFICIENCY 100 WITH PULMONARY ALVEOLAR PROTEINOSIS AND HYPOGAMMAGLOBULINEMIA

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PubMed Reference(s)

RGD Reference(s)

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G

2'-5'-oligoadenylate synthetase 1

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 chr11:108,163,203...108,176,191
Ensembl chr11:108,163,299...108,176,193

immunodeficiency 35

term browser

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Object Name

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Evidence

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PubMed Reference(s)

RGD Reference(s)

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G

adaptor related protein complex 1 subunit mu 2

ClinVar Annotator: match by term: Immunodeficiency 35

NCBI chr 6:9,576,581...9,594,410
Ensembl chr 6:9,574,832...9,594,480

G

autophagy related 4D cysteine peptidase

ClinVar Annotator: match by term: Immunodeficiency 35

NCBI chr 6:9,555,792...9,565,295
Ensembl chr 6:9,555,780...9,568,814

G

cell division cycle 37, HSP90 cochaperone

ClinVar Annotator: match by term: Immunodeficiency 35

PMID:22402565 PMID:26304966 PMID:28492532

NCBI chr 6:9,427,220...9,439,469
Ensembl chr 6:9,427,191...9,439,913

G

cyclin dependent kinase inhibitor 2D

ClinVar Annotator: match by term: Immunodeficiency 35

NCBI chr 6:9,579,648...9,582,249
Ensembl chr 6:9,579,470...9,582,101

G

dynamin 2

ClinVar Annotator: match by term: Immunodeficiency 35

NCBI chr 6:9,718,014...9,830,061
Ensembl chr 6:9,718,244...9,831,206

G

DNA methyltransferase 1

ClinVar Annotator: match by term: Immunodeficiency 35

PMID:22402565 PMID:26304966 PMID:28492532

NCBI chr 6:9,199,006...9,263,890
Ensembl chr 6:9,199,003...9,263,607

G

ferredoxin 2

ClinVar Annotator: match by term: Immunodeficiency 35

PMID:22402565 PMID:26304966 PMID:28492532

NCBI chr 6:9,359,446...9,364,702
Ensembl chr 6:9,359,719...9,364,689

G

intercellular adhesion molecule 1

ClinVar Annotator: match by term: Immunodeficiency 35

PMID:22402565 PMID:26304966 PMID:28492532

NCBI chr 6:9,320,991...9,338,125
Ensembl chr 6:9,322,550...9,338,263

G

intercellular adhesion molecule 3

ClinVar Annotator: match by term: Immunodeficiency 35

PMID:22402565 PMID:26304966 PMID:28492532

G

intercellular adhesion molecule 4 (Landsteiner-Wiener blood group)

ClinVar Annotator: match by term: Immunodeficiency 35

PMID:22402565 PMID:26304966 PMID:28492532

NCBI chr 6:9,338,478...9,340,029
Ensembl chr 6:9,338,588...9,340,185

G

intercellular adhesion molecule 5

ClinVar Annotator: match by term: Immunodeficiency 35

PMID:22402565 PMID:26304966 PMID:28492532

NCBI chr 6:9,341,012...9,348,284
Ensembl chr 6:9,341,960...9,348,284