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.

show annotations for term's descendants Sort by:
Rat (688) Mouse (790) Human (15246) Chinchilla (616) Bonobo (677) Dog (670) Squirrel (638) Pig (655) Green Monkey (664) Naked Mole-rat (616) All
Genes (1099) QTL (277) Variants (13315) Cell Lines (555)

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)

RGD

NCBI chr 4:73,404,287...73,421,482
Ensembl chr 4:73,397,114...73,421,482

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)

RGD

NCBI chr 7:101,127,104...101,139,247
Ensembl chr 7:101,127,104...101,139,247

acute chest syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

glutathione S-transferase mu 1

susceptibility

associated with sickle cell anemia;

RGD

NCBI chr 1:109,687,817...109,693,745
Ensembl chr 1:109,687,814...109,709,039

G

glutathione S-transferase theta 1

susceptibility

associated with Anemia, Sickle Cell;DNA:deletion:: (human)

RGD

G

hemoglobin subunit beta

DNA:SNPs, haplotypes

RGD

NCBI chr11:5,225,464...5,227,071
Ensembl chr11:5,225,464...5,229,395

G

heme oxygenase 1

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

RGD

NCBI chr22:35,381,096...35,394,207
Ensembl chr22:35,380,361...35,394,214

G

nitric oxide synthase 3

susceptibility

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

RGD

PMID:25263931 PMID:14687036

RGD:11533931, RGD:11533934

NCBI chr 7:150,991,017...151,014,588
Ensembl chr 7:150,991,017...151,014,588

G

vascular endothelial growth factor A

susceptibility

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

RGD

PMID:25130874 PMID:22925497

RGD:11075233, RGD:11075235

NCBI chr 6:43,770,211...43,786,487
Ensembl chr 6:43,770,184...43,786,487

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 chr20:45,841,721...45,857,392
Ensembl chr20:45,841,721...45,857,405

G

adenosine deaminase

ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
ClinVar Annotator: match by term: Bubble boy disease | ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
OMIM:102700
CTD Direct Evidence: marker/mechanism

ClinVar
MouseDO
CTD
OMIM

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

NCBI chr20:44,619,522...44,651,699
Ensembl chr20:44,584,896...44,652,252

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 chr20:44,714,861...44,727,811
Ensembl chr20:44,714,844...44,728,509

G

CD247 molecule

ClinVar Annotator: match by term: Bubble boy disease

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

NCBI chr 1:167,430,640...167,518,529
Ensembl chr 1:167,425,027...167,518,640

G

CD3 epsilon subunit of T-cell receptor complex

ClinVar Annotator: match by term: Bubble boy disease

PMID:25741868 PMID:28492532

NCBI chr11:118,304,730...118,316,173
Ensembl chr11:118,304,730...118,316,175

G

CD3 gamma subunit of T-cell receptor complex

ClinVar Annotator: match by term: Bubble boy disease

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

NCBI chr11:118,344,344...118,355,161
Ensembl chr11:118,344,344...118,355,161

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 chr20:46,118,314...46,129,858
Ensembl chr20:46,118,271...46,129,863

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 chr20:46,173,739...46,308,498
Ensembl chr20:46,173,739...46,308,498

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 chr20:45,891,335...45,898,820
Ensembl chr20:45,890,144...45,898,949

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 chr20:45,405,993...45,410,610
Ensembl chr20:45,406,057...45,410,610

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 chr20:45,791,954...45,811,418
Ensembl chr20:45,791,954...45,811,427

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 chr20:46,366,050...46,406,615
Ensembl chr20:46,366,050...46,432,985

G

epididymal peptidase inhibitor

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

PMID:26255240 PMID:26376800 PMID:28492532

NCBI chr20:45,540,626...45,547,401
Ensembl chr20:45,540,626...45,547,752

G

EPPIN-WFDC6 readthrough

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 chr20:45,536,280...45,547,401
Ensembl chr20:45,534,196...45,547,662

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 chr20:44,302,840...44,311,202
Ensembl chr20:44,302,840...44,311,202

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 chr20:44,247,099...44,280,947
Ensembl chr20:44,247,099...44,280,947

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 chr20:43,726,164...43,727,002
Ensembl chr20:43,726,164...43,727,002

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 chr20:44,355,699...44,434,596
Ensembl chr20:44,355,699...44,432,845

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 chr20:43,590,937...43,647,299
Ensembl chr20:43,590,937...43,647,299

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 chr19:17,824,782...17,847,982
Ensembl chr19:17,824,780...17,848,071

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 chr20:44,106,590...44,187,188
Ensembl chr20:44,106,590...44,187,188

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 chr20:44,745,865...44,752,313
Ensembl chr20:44,745,865...44,752,313

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 chr20:45,091,214...45,101,127
Ensembl chr20:45,091,214...45,101,127

G

adenosine deaminase intronic regulatory elements

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:1696926 PMID:3366897 PMID:3684597 PMID:7599635 PMID:8031011 More...

NCBI chr20:44,629,004...44,652,471

G

proximal ADA Alu-mediated recombination region

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:1696926 PMID:3366897 PMID:3684597 PMID:9361033

NCBI chr20:44,649,731...44,650,034

G

distal ADA Alu-mediated recombination region

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:1696926 PMID:3366897 PMID:3684597 PMID:9361033

NCBI chr20:44,652,981...44,653,289

G

BRD4-independent group 4 enhancer GRCh37_chr11:118220212-118221411

ClinVar Annotator: match by term: Bubble boy disease

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

NCBI chr11:118,349,497...118,350,696

G

BRD4-independent group 4 enhancer GRCh37_chr14:23893609-23894808

ClinVar Annotator: match by term: Bubble boy disease

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

NCBI chr14:23,424,400...23,425,599

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 chr20:45,293,450...45,308,684
Ensembl chr20:45,293,445...45,308,529

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 chr20:46,008,908...46,016,561
Ensembl chr20:46,008,908...46,016,561

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 chr20:43,667,114...43,716,482
Ensembl chr20:43,667,019...43,716,495

G

myosin heavy chain 7

ClinVar Annotator: match by term: Bubble boy disease

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

NCBI chr14:23,412,740...23,435,660
Ensembl chr14:23,412,740...23,435,660

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 8:89,933,331...89,984,667
Ensembl chr 8:89,924,515...90,003,228

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 chr20:46,060,991...46,089,962
Ensembl chr20:46,060,991...46,089,962

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 chr20:45,888,634...45,891,208
Ensembl chr20:45,888,625...45,891,208

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 chr 2:219,069,357...219,160,815
Ensembl chr 2:219,069,355...219,160,869

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 chr20:46,540,946...46,550,654
Ensembl chr20:46,540,946...46,550,654

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 chr20:44,195,939...44,211,810
Ensembl chr20:44,195,939...44,210,771

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 chr20:44,910,060...44,939,316
Ensembl chr20:44,910,060...44,959,035

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 chr20:45,934,683...45,948,020
Ensembl chr20:45,934,683...45,948,023

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 chr20:45,174,902...45,176,544
Ensembl chr20:45,174,902...45,176,544

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 chr20:45,416,141...45,426,241
Ensembl chr20:45,416,084...45,456,934

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 chr20:44,531,875...44,619,037
Ensembl chr20:44,531,785...44,624,247

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 chr20:45,898,620...45,912,155
Ensembl chr20:45,898,621...45,912,155

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 chr20:44,337,043...44,351,238
Ensembl chr20:44,337,043...44,351,238

G

recombination activating 1

ClinVar Annotator: match by term: Bubble boy disease

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

NCBI chr11:36,510,353...36,579,762
Ensembl chr11:36,510,372...36,593,156

G

recombination activating 2

ClinVar Annotator: match by term: Bubble boy disease

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

NCBI chr11:36,590,996...36,598,236
Ensembl chr11:36,575,574...36,598,279

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 chr20:45,306,840...45,317,824
Ensembl chr20:45,306,840...45,317,824

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 chr20:44,751,808...44,810,546
Ensembl chr20:44,751,808...44,810,546

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 chr20:45,325,288...45,348,424
Ensembl chr20:45,325,288...45,348,424

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 chr20:45,207,033...45,209,768
Ensembl chr20:45,207,033...45,209,768

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

NCBI chr20:45,221,373...45,224,458
Ensembl chr20:45,221,373...45,224,458

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 chr20:44,496,221...44,522,070
Ensembl chr20:44,496,221...44,522,085

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 chr20:46,021,686...46,060,150
Ensembl chr20:46,021,690...46,060,150

G

solute carrier family 13 member 3

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

PMID:26255240 PMID:26376800 PMID:28492532

NCBI chr20:46,557,828...46,684,485
Ensembl chr20:46,557,823...46,684,467

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 chr20:46,708,320...46,736,347
Ensembl chr20:46,709,649...46,736,347

G

solute carrier family 35 member C2

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

PMID:26255240 PMID:26376800 PMID:28492532

NCBI chr20:46,345,984...46,364,425
Ensembl chr20:46,345,980...46,364,458

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 chr20:45,252,239...45,254,564
Ensembl chr20:45,252,239...45,254,564

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 chr20:45,833,799...45,843,276
Ensembl chr20:45,833,799...45,843,276

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 chr20:45,886,491...45,891,016
Ensembl chr20:45,886,491...45,887,622

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 chr20:45,512,461...45,515,622
Ensembl chr20:45,512,461...45,515,622

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 chr20:45,722,347...45,725,830
Ensembl chr20:45,722,347...45,725,830

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 chr20:44,966,512...45,080,021
Ensembl chr20:44,966,494...45,084,214

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 chr20:45,361,949...45,376,798
Ensembl chr20:45,361,937...45,376,798

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 chr20:45,823,214...45,833,306
Ensembl chr20:45,823,214...45,833,745

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 chr20:44,942,130...44,960,397
Ensembl chr20:44,942,130...44,960,397

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 chr20:43,914,852...44,069,616
Ensembl chr20:43,914,852...44,069,616

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 chr20:46,684,365...46,689,444
Ensembl chr20:46,684,365...46,689,444

G

TP53 target 5

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

PMID:26255240 PMID:26376800 PMID:28492532

NCBI chr20:45,372,557...45,378,325
Ensembl chr20:45,372,557...45,407,889

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 chr20:44,475,874...44,494,603
Ensembl chr20:44,475,874...44,494,603

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 chr20:45,812,644...45,816,952
Ensembl chr20:45,812,576...45,816,957

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 chr20:45,629,739...45,631,196
Ensembl chr20:45,629,739...45,631,196

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 chr20:45,684,651...45,705,019
Ensembl chr20:45,684,651...45,705,019

G

WAP four-disulfide core domain 11

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

PMID:26255240 PMID:26376800 PMID:28492532

NCBI chr20:45,648,563...45,670,239
Ensembl chr20:45,648,563...45,670,270

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 chr20:45,123,425...45,124,465
Ensembl chr20:45,123,425...45,124,465

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 chr20:45,702,038...45,708,817
Ensembl chr20:45,702,038...45,708,817

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 chr20:45,469,753...45,481,532
Ensembl chr20:45,469,753...45,481,532

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 chr20:45,774,213...45,791,883
Ensembl chr20:45,747,944...45,791,932

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 chr20:45,109,463...45,116,319
Ensembl chr20:45,109,452...45,115,174

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 chr20:45,534,196...45,539,482
Ensembl chr20:45,534,196...45,539,482

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 chr20:45,551,152...45,579,284
Ensembl chr20:45,551,153...45,579,326

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 chr20:45,607,939...45,631,284
Ensembl chr20:45,607,939...45,631,284

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 chr20:44,885,705...44,908,532
Ensembl chr20:44,885,702...44,908,532

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 chr20:46,462,313...46,513,559
Ensembl chr20:46,499,630...46,513,559

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 chr20:45,948,660...45,972,203
Ensembl chr20:45,948,660...45,972,203

G

zinc finger protein 840, pseudogene

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 chr20:46,490,940...46,492,292
Ensembl chr20:46,459,441...46,495,558

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 chr20:45,880,920...45,885,266
Ensembl chr20:45,881,227...45,885,266

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 chr20:45,857,614...45,879,122
Ensembl chr20:45,857,614...45,879,122

agammaglobulinemia

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

B cell linker

susceptibility

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

CTD
RGD

NCBI chr10:96,189,171...96,271,569
Ensembl chr10:96,189,171...96,271,587

G

Bruton tyrosine kinase

susceptibility

DNA:insertions, point mutations
CTD Direct Evidence: therapeutic

CTD
RGD

PMID:15142874 PMID:8162018

NCBI chr X:101,349,450...101,390,796
Ensembl chr X:101,349,338...101,390,796

G

CD19 molecule

CTD Direct Evidence: marker/mechanism

NCBI chr16:28,931,971...28,939,342
Ensembl chr16:28,931,965...28,939,342

G

CD79a molecule

CTD Direct Evidence: marker/mechanism

NCBI chr19:41,877,279...41,881,372
Ensembl chr19:41,877,279...41,881,372

G

CD79b molecule

CTD Direct Evidence: marker/mechanism

NCBI chr17:63,928,740...63,932,331
Ensembl chr17:63,928,738...63,932,336

G

immunoglobulin heavy constant mu

CTD Direct Evidence: marker/mechanism

NCBI chr14:105,851,966...105,856,217
Ensembl chr14:105,851,705...105,856,218

G

immunoglobulin lambda like polypeptide 1

CTD Direct Evidence: marker/mechanism

NCBI chr22:23,573,125...23,580,290
Ensembl chr22:23,573,125...23,580,302

G

leucine rich repeat containing 8 VRAC subunit A

CTD Direct Evidence: marker/mechanism

CTD
RGD

NCBI chr 9:128,882,133...128,918,039
Ensembl chr 9:128,882,133...128,918,039

G

transcription factor 3

CTD Direct Evidence: marker/mechanism

NCBI chr19:1,609,292...1,652,615
Ensembl chr19:1,609,291...1,652,615

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:101,349,450...101,390,796
Ensembl chr X:101,349,338...101,390,796

G

CD79a molecule

ClinVar Annotator: match by term: Autosomal recessive agammaglobulinemia 1

PMID:25741868 PMID:28492532

NCBI chr19:41,877,279...41,881,372
Ensembl chr19:41,877,279...41,881,372

G

immunoglobulin heavy locus

ClinVar Annotator: match by term: Autosomal recessive agammaglobulinemia 1

PMID:2115996 PMID:8890099 PMID:12370281 PMID:25741868

NCBI chr14:105,586,437...106,879,844

G

immunoglobulin heavy constant mu

ClinVar Annotator: match by term: Autosomal recessive agammaglobulinemia 1

PMID:2115996 PMID:8890099 PMID:12370281 PMID:25741868

NCBI chr14:105,851,966...105,856,217
Ensembl chr14:105,851,705...105,856,218

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 10, autosomal dominant
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 chr11:47,354,860...47,378,547
Ensembl chr11:47,354,860...47,409,369

agammaglobulinemia 2

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

chromosome 22 open reading frame 15

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

NCBI chr22:23,762,990...23,765,863
Ensembl chr22:23,762,990...23,765,863

G

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

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

NCBI chr22:23,765,834...23,767,972
Ensembl chr22:23,765,834...23,767,972

G

derlin 3

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

NCBI chr22:23,834,503...23,839,006
Ensembl chr22:23,834,503...23,839,128

G

aspartate rich 1

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

NCBI chr22:23,580,880...23,632,816
Ensembl chr22:23,608,452...23,632,321

G

immunoglobulin lambda like polypeptide 1

ClinVar Annotator: match by term: AGAMMAGLOBULINEMIA, AUTOSOMAL RECESSIVE, DUE TO IGLL1 DEFECT | ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive

PMID:9419212 PMID:9536098 PMID:17576681 PMID:25502423 PMID:25741868 More...

NCBI chr22:23,573,125...23,580,290
Ensembl chr22:23,573,125...23,580,302

G

macrophage migration inhibitory factor

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

NCBI chr22:23,894,383...23,895,223
Ensembl chr22:23,894,383...23,895,227

G

matrix metallopeptidase 11

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

NCBI chr22:23,772,849...23,784,316
Ensembl chr22:23,768,226...23,784,316

G

ral guanine nucleotide dissociation stimulator like 4

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

NCBI chr22:23,691,013...23,699,168
Ensembl chr22:23,688,136...23,699,176

G

solute carrier family 2 member 11

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

NCBI chr22:23,856,934...23,886,312
Ensembl chr22:23,856,703...23,886,312

G

SWI/SNF related BAF chromatin remodeling complex subunit B1

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

NCBI chr22:23,786,966...23,838,009
Ensembl chr22:23,786,931...23,838,009

G

V-set pre-B cell surrogate light chain 3

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

NCBI chr22:23,752,743...23,754,425
Ensembl chr22:23,752,743...23,754,425

G

zinc finger protein 70

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

NCBI chr22:23,738,682...23,751,112
Ensembl chr22:23,738,682...23,751,112

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 chr19:41,877,279...41,881,372
Ensembl chr19:41,877,279...41,881,372

G

ribosomal protein S19

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

NCBI chr19:41,860,255...41,872,925
Ensembl chr19:41,860,255...41,872,925

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 chr10:95,605,941...95,656,711
Ensembl chr10:95,605,941...95,656,711

G

B cell linker

ClinVar Annotator: match by term: Agammaglobulinemia 4, autosomal recessive
ClinVar Annotator: match by term: Agammaglobulinemia 4, autosomal recessive | ClinVar Annotator: match by term: B cell linker protein deficiency
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 chr10:96,189,171...96,271,569
Ensembl chr10:96,189,171...96,271,587

G

coiled-coil and C2 domain containing 2B

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

NCBI chr10:95,907,671...96,033,745
Ensembl chr10:95,907,603...96,033,745

G

cyclin J

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

NCBI chr10:96,043,068...96,060,870
Ensembl chr10:96,043,394...96,060,870

G

ectonucleoside triphosphate diphosphohydrolase 1

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

NCBI chr10:95,694,186...95,877,266
Ensembl chr10:95,711,779...95,877,266

G

tectonic family member 3

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

NCBI chr10:95,663,401...95,693,927
Ensembl chr10:95,659,823...95,694,143

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 chr10:96,129,715...96,205,291
Ensembl chr10:96,129,715...96,205,288

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

PMID:24033266 PMID:25741868 PMID:28492532

NCBI chr 9:128,882,133...128,918,039
Ensembl chr 9:128,882,133...128,918,039

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 6, autosomal recessive
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 chr17:63,928,740...63,932,331
Ensembl chr17:63,928,738...63,932,336

G

growth hormone locus control region

ClinVar Annotator: match by term: Agammaglobulinemia 6, autosomal recessive
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 chr17:63,917,193...63,958,852

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 5:68,215,756...68,301,821
Ensembl chr 5:68,215,740...68,301,821

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 chr19:1,609,292...1,652,615
Ensembl chr19:1,609,291...1,652,615

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 8, autosomal dominant
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 chr19:1,609,292...1,652,615
Ensembl chr19:1,609,291...1,652,615

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 8b, autosomal recessive
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 chr19:1,609,292...1,652,615
Ensembl chr19:1,609,291...1,652,615

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 chr 6:33,200,867...33,204,437
Ensembl chr 6:33,200,305...33,204,439

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 4:73,404,287...73,421,482
Ensembl chr 4:73,397,114...73,421,482

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 chr13:51,932,669...52,012,132
Ensembl chr13:51,930,436...52,012,125

G

haptoglobin

ClinVar Annotator: match by term: AHAPTOGLOBINEMIA
ClinVar Annotator: match by term: HP-related condition
ClinVar Annotator: match by term: Anhaptoglobinemia

PMID:9463309 PMID:10644822 PMID:10666182 PMID:14616769 PMID:14999562 More...

NCBI chr16:72,054,505...72,061,055
Ensembl chr16:72,054,505...72,061,055

G

haptoglobin-related protein

ClinVar Annotator: match by term: AHAPTOGLOBINEMIA

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

NCBI chr16:72,063,226...72,077,246
Ensembl chr16:72,063,148...72,077,246

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 chr 1:173,608,336...173,715,185
Ensembl chr 1:173,608,336...173,669,851

G

calcyclin binding protein

ClinVar Annotator: match by term: Hereditary antithrombin deficiency

NCBI chr 1:174,999,435...175,012,027
Ensembl chr 1:174,999,163...175,012,027

G

centromere protein L

ClinVar Annotator: match by term: Hereditary antithrombin deficiency

NCBI chr 1:173,799,550...173,824,883
Ensembl chr 1:173,799,550...173,824,883

G

COP1 E3 ubiquitin ligase

ClinVar Annotator: match by term: Hereditary antithrombin deficiency

NCBI chr 1:175,944,831...176,207,286
Ensembl chr 1:175,944,831...176,207,286

G

aspartyl-tRNA synthetase 2, mitochondrial

ClinVar Annotator: match by term: Hereditary antithrombin deficiency

NCBI chr 1:173,824,673...173,858,546
Ensembl chr 1:173,824,653...173,858,808

G

growth arrest specific 5

ClinVar Annotator: match by term: Hereditary antithrombin deficiency

NCBI chr 1:173,863,901...173,869,045
Ensembl chr 1:173,851,424...173,868,940

G

GAS5 antisense RNA 1

ClinVar Annotator: match by term: Hereditary antithrombin deficiency

NCBI chr 1:173,863,248...173,863,941
Ensembl chr 1:173,862,473...173,863,941

G

G protein-coupled receptor 52

ClinVar Annotator: match by term: Hereditary antithrombin deficiency

NCBI chr 1:174,447,964...174,449,545
Ensembl chr 1:174,447,964...174,449,545

G

KIAA0040

ClinVar Annotator: match by term: Hereditary antithrombin deficiency

NCBI chr 1:175,156,986...175,192,987
Ensembl chr 1:175,156,986...175,192,999

G

kelch like family member 20

ClinVar Annotator: match by term: Hereditary antithrombin deficiency

NCBI chr 1:173,714,981...173,786,692
Ensembl chr 1:173,714,941...173,786,692

G

long intergenic non-protein coding RNA 1657

ClinVar Annotator: match by term: Hereditary antithrombin deficiency

NCBI chr 1:175,877,343...175,880,464
Ensembl chr 1:175,877,343...175,880,468

G

uncharacterized LOC100506023

ClinVar Annotator: match by term: Hereditary antithrombin deficiency

NCBI chr 1:173,235,060...173,477,155

G

uncharacterized LOC105371622

ClinVar Annotator: match by term: Hereditary antithrombin deficiency

NCBI chr 1:174,997,479...174,999,646

G

Sharpr-MPRA regulatory region 10542

ClinVar Annotator: match by term: Hereditary antithrombin deficiency

NCBI chr 1:174,689,591...174,689,885

G

CRISPRi-validated cis-regulatory element chr1.9913

ClinVar Annotator: match by term: Hereditary antithrombin deficiency

NCBI chr 1:173,670,896...173,671,479

G

Sharpr-MPRA regulatory region 8886

ClinVar Annotator: match by term: Hereditary antithrombin deficiency

NCBI chr 1:173,431,270...173,431,564

G

Sharpr-MPRA regulatory region 4744

ClinVar Annotator: match by term: Hereditary antithrombin deficiency

NCBI chr 1:173,496,990...173,497,284

G

Sharpr-MPRA regulatory region 615

ClinVar Annotator: match by term: Hereditary antithrombin deficiency

NCBI chr 1:173,123,270...173,123,564

G

Sharpr-MPRA regulatory region 679

ClinVar Annotator: match by term: Hereditary antithrombin deficiency

NCBI chr 1:173,448,309...173,449,244

G

Sharpr-MPRA regulatory region 797

ClinVar Annotator: match by term: Hereditary antithrombin deficiency

NCBI chr 1:174,131,291...174,131,585

G

Sharpr-MPRA regulatory region 15603

ClinVar Annotator: match by term: Hereditary antithrombin deficiency

NCBI chr 1:175,152,053...175,152,347

G

Sharpr-MPRA regulatory region 6447

ClinVar Annotator: match by term: Hereditary antithrombin deficiency

NCBI chr 1:175,201,133...175,201,427

G

Sharpr-MPRA regulatory region 1508

ClinVar Annotator: match by term: Hereditary antithrombin deficiency

NCBI chr 1:175,338,533...175,338,827

G

BRD4-independent group 4 enhancer GRCh37_chr1:173473949-173475148

ClinVar Annotator: match by term: Hereditary antithrombin deficiency

NCBI chr 1:173,504,810...173,506,009

G

BRD4-independent group 4 enhancer GRCh37_chr1:173610829-173612028

ClinVar Annotator: match by term: Hereditary antithrombin deficiency

NCBI chr 1:173,641,690...173,642,889

G

BRD4-independent group 4 enhancer GRCh37_chr1:173837597-173838796

ClinVar Annotator: match by term: Hereditary antithrombin deficiency

NCBI chr 1:173,868,415...173,869,658

G

BRD4-independent group 4 enhancer GRCh37_chr1:173863193-173864392

ClinVar Annotator: match by term: Hereditary antithrombin deficiency

NCBI chr 1:173,894,055...173,895,254

G

MED14-independent group 3 enhancer GRCh37_chr1:173915901-173917100

ClinVar Annotator: match by term: Hereditary antithrombin deficiency

NCBI chr 1:173,946,763...173,947,962

G

MED14-independent group 3 enhancer GRCh37_chr1:174817888-174819087

ClinVar Annotator: match by term: Hereditary antithrombin deficiency

NCBI chr 1:174,848,438...174,849,949

G

P300/CBP strongly-dependent group 1 enhancer GRCh37_chr1:175023596-175024795

ClinVar Annotator: match by term: Hereditary antithrombin deficiency

NCBI chr 1:175,054,460...175,055,659

G

BRD4-independent group 4 enhancer GRCh37_chr1:175036290-175037489

ClinVar Annotator: match by term: Hereditary antithrombin deficiency

NCBI chr 1:175,067,154...175,068,353

G

MED14-independent group 3 enhancer GRCh37_chr1:175238074-175239273

ClinVar Annotator: match by term: Hereditary antithrombin deficiency

NCBI chr 1:175,268,938...175,270,137

G

MPRA-validated peak458 silencer

ClinVar Annotator: match by term: Hereditary antithrombin deficiency

NCBI chr 1:173,295,396...173,295,596

G

MPRA-validated peak459 silencer

ClinVar Annotator: match by term: Hereditary antithrombin deficiency

NCBI chr 1:173,492,676...173,492,876

G

MPRA-validated peak463 silencer

ClinVar Annotator: match by term: Hereditary antithrombin deficiency

NCBI chr 1:173,798,557...173,798,757

G

MPRA-validated peak465 silencer

ClinVar Annotator: match by term: Hereditary antithrombin deficiency

NCBI chr 1:174,002,937...174,003,137

G

MPRA-validated peak466 silencer

ClinVar Annotator: match by term: Hereditary antithrombin deficiency

NCBI chr 1:174,014,957...174,015,157

G

MPRA-validated peak467 silencer

ClinVar Annotator: match by term: Hereditary antithrombin deficiency

NCBI chr 1:174,302,397...174,302,597

G

MPRA-validated peak469 silencer

ClinVar Annotator: match by term: Hereditary antithrombin deficiency

NCBI chr 1:175,012,659...175,012,859

G

MPRA-validated peak471 silencer

ClinVar Annotator: match by term: Hereditary antithrombin deficiency

NCBI chr 1:175,099,979...175,100,179

G

MPRA-validated peak472 silencer

ClinVar Annotator: match by term: Hereditary antithrombin deficiency

NCBI chr 1:175,725,750...175,725,950

G

MPRA-validated peak473 silencer

ClinVar Annotator: match by term: Hereditary antithrombin deficiency

NCBI chr 1:176,030,879...176,031,079

G

ATAC-STARR-seq lymphoblastoid active region 2098

ClinVar Annotator: match by term: Hereditary antithrombin deficiency

NCBI chr 1:173,207,263...173,207,322

G

ATAC-STARR-seq lymphoblastoid active region 2099

ClinVar Annotator: match by term: Hereditary antithrombin deficiency

NCBI chr 1:173,298,161...173,298,210

G

ATAC-STARR-seq lymphoblastoid active region 2100

ClinVar Annotator: match by term: Hereditary antithrombin deficiency

NCBI chr 1:173,333,912...173,334,011

G

ATAC-STARR-seq lymphoblastoid active region 2101

ClinVar Annotator: match by term: Hereditary antithrombin deficiency

NCBI chr 1:173,355,091...173,355,140

G

ATAC-STARR-seq lymphoblastoid active region 2102

ClinVar Annotator: match by term: Hereditary antithrombin deficiency

NCBI chr 1:173,355,391...173,355,560

G

ATAC-STARR-seq lymphoblastoid silent region 1554

ClinVar Annotator: match by term: Hereditary antithrombin deficiency

NCBI chr 1:173,356,596...173,356,655

G

ATAC-STARR-seq lymphoblastoid active region 2103

ClinVar Annotator: match by term: Hereditary antithrombin deficiency

NCBI chr 1:173,360,762...173,360,811

G

ATAC-STARR-seq lymphoblastoid active region 2104

ClinVar Annotator: match by term: Hereditary antithrombin deficiency

NCBI chr 1:173,410,699...173,411,248

G

ATAC-STARR-seq lymphoblastoid active region 2105

ClinVar Annotator: match by term: Hereditary antithrombin deficiency

NCBI chr 1:173,413,804...173,413,853

G

ATAC-STARR-seq lymphoblastoid active region 2106

ClinVar Annotator: match by term: Hereditary antithrombin deficiency

NCBI chr 1:173,414,434...173,414,593

G

ATAC-STARR-seq lymphoblastoid active region 2107

ClinVar Annotator: match by term: Hereditary antithrombin deficiency

NCBI chr 1:173,414,654...173,414,703

G

ATAC-STARR-seq lymphoblastoid active region 2108

ClinVar Annotator: match by term: Hereditary antithrombin deficiency

NCBI chr 1:173,416,164...173,416,293

G

ATAC-STARR-seq lymphoblastoid active region 2109

ClinVar Annotator: match by term: Hereditary antithrombin deficiency

NCBI chr 1:173,416,324...173,416,373

G

ATAC-STARR-seq lymphoblastoid active region 2110

ClinVar Annotator: match by term: Hereditary antithrombin deficiency

NCBI chr 1:173,418,182...173,418,521

G

ATAC-STARR-seq lymphoblastoid active region 2111

ClinVar Annotator: match by term: Hereditary antithrombin deficiency

NCBI chr 1:173,420,280...173,420,379

G

ATAC-STARR-seq lymphoblastoid active region 2112

ClinVar Annotator: match by term: Hereditary antithrombin deficiency

NCBI chr 1:173,444,885...173,445,104

G

ATAC-STARR-seq lymphoblastoid silent region 1555

ClinVar Annotator: match by term: Hereditary antithrombin deficiency

NCBI chr 1:173,477,134...173,477,303

G

ATAC-STARR-seq lymphoblastoid active region 2113

ClinVar Annotator: match by term: Hereditary antithrombin deficiency

NCBI chr 1:173,477,374...173,477,533

G

ATAC-STARR-seq lymphoblastoid active region 2114

ClinVar Annotator: match by term: Hereditary antithrombin deficiency

NCBI chr 1:173,714,885...173,715,074

G

ATAC-STARR-seq lymphoblastoid active region 2115

ClinVar Annotator: match by term: Hereditary antithrombin deficiency

NCBI chr 1:173,715,155...173,715,524

G

ATAC-STARR-seq lymphoblastoid active region 2116

ClinVar Annotator: match by term: Hereditary antithrombin deficiency

NCBI chr 1:173,824,160...173,824,399

G

ATAC-STARR-seq lymphoblastoid silent region 1556

ClinVar Annotator: match by term: Hereditary antithrombin deficiency

NCBI chr 1:173,862,599...173,862,728

G

ATAC-STARR-seq lymphoblastoid active region 2118

ClinVar Annotator: match by term: Hereditary antithrombin deficiency

NCBI chr 1:173,870,173...173,870,272

G

ATAC-STARR-seq lymphoblastoid active region 2119

ClinVar Annotator: match by term: Hereditary antithrombin deficiency

NCBI chr 1:174,020,983...174,021,102

G

ATAC-STARR-seq lymphoblastoid silent region 1558

ClinVar Annotator: match by term: Hereditary antithrombin deficiency

NCBI chr 1:174,021,913...174,022,232

G

ATAC-STARR-seq lymphoblastoid silent region 1559

ClinVar Annotator: match by term: Hereditary antithrombin deficiency

NCBI chr 1:174,022,343...174,022,592

G

ATAC-STARR-seq lymphoblastoid silent region 1560

ClinVar Annotator: match by term: Hereditary antithrombin deficiency

NCBI chr 1:174,114,956...174,115,015

G

ATAC-STARR-seq lymphoblastoid active region 2120

ClinVar Annotator: match by term: Hereditary antithrombin deficiency

NCBI chr 1:174,153,756...174,153,865

G

ATAC-STARR-seq lymphoblastoid silent region 1561

ClinVar Annotator: match by term: Hereditary antithrombin deficiency

NCBI chr 1:174,159,226...174,159,625

G

ATAC-STARR-seq lymphoblastoid silent region 1562

ClinVar Annotator: match by term: Hereditary antithrombin deficiency

NCBI chr 1:174,159,746...174,159,925

G

ATAC-STARR-seq lymphoblastoid active region 2121

ClinVar Annotator: match by term: Hereditary antithrombin deficiency

NCBI chr 1:174,204,938...174,204,987

G

ATAC-STARR-seq lymphoblastoid active region 2122

ClinVar Annotator: match by term: Hereditary antithrombin deficiency

NCBI chr 1:174,209,540...174,209,679

G

ATAC-STARR-seq lymphoblastoid silent region 1563

ClinVar Annotator: match by term: Hereditary antithrombin deficiency

NCBI chr 1:174,220,485...174,220,604

G

ATAC-STARR-seq lymphoblastoid silent region 1564

ClinVar Annotator: match by term: Hereditary antithrombin deficiency

NCBI chr 1:174,225,905...174,226,044

G

ATAC-STARR-seq lymphoblastoid active region 2123

ClinVar Annotator: match by term: Hereditary antithrombin deficiency

NCBI chr 1:174,712,396...174,712,505

G

ATAC-STARR-seq lymphoblastoid silent region 1565

ClinVar Annotator: match by term: Hereditary antithrombin deficiency

NCBI chr 1:174,787,060...174,787,119

G

ATAC-STARR-seq lymphoblastoid active region 2124

ClinVar Annotator: match by term: Hereditary antithrombin deficiency

NCBI chr 1:174,789,495...174,789,554

G

ATAC-STARR-seq lymphoblastoid active region 2125

ClinVar Annotator: match by term: Hereditary antithrombin deficiency

NCBI chr 1:174,916,799...174,916,878

G

ATAC-STARR-seq lymphoblastoid silent region 1566

ClinVar Annotator: match by term: Hereditary antithrombin deficiency

NCBI chr 1:174,999,848...174,999,967

G

ATAC-STARR-seq lymphoblastoid active region 2128

ClinVar Annotator: match by term: Hereditary antithrombin deficiency

NCBI chr 1:175,023,156...175,023,405

G

ATAC-STARR-seq lymphoblastoid active region 2129

ClinVar Annotator: match by term: Hereditary antithrombin deficiency

NCBI chr 1:175,191,979...175,192,028

G

ATAC-STARR-seq lymphoblastoid active region 2130

ClinVar Annotator: match by term: Hereditary antithrombin deficiency

NCBI chr 1:175,192,169...175,192,218

G

ATAC-STARR-seq lymphoblastoid active region 2131

ClinVar Annotator: match by term: Hereditary antithrombin deficiency

NCBI chr 1:175,192,459...175,192,608

G

ATAC-STARR-seq lymphoblastoid active region 2132

ClinVar Annotator: match by term: Hereditary antithrombin deficiency

NCBI chr 1:175,193,329...175,193,438

G

ATAC-STARR-seq lymphoblastoid active region 2133

ClinVar Annotator: match by term: Hereditary antithrombin deficiency

NCBI chr 1:175,225,461...175,225,540

G

ATAC-STARR-seq lymphoblastoid active region 2134

ClinVar Annotator: match by term: Hereditary antithrombin deficiency

NCBI chr 1:175,225,751...175,225,800

G

ATAC-STARR-seq lymphoblastoid silent region 1567

ClinVar Annotator: match by term: Hereditary antithrombin deficiency

NCBI chr 1:175,287,523...175,287,582

G

ATAC-STARR-seq lymphoblastoid active region 2135

ClinVar Annotator: match by term: Hereditary antithrombin deficiency

NCBI chr 1:175,364,902...175,364,951

G

ATAC-STARR-seq lymphoblastoid active region 2136

ClinVar Annotator: match by term: Hereditary antithrombin deficiency

NCBI chr 1:175,373,906...175,374,055

G

ATAC-STARR-seq lymphoblastoid active region 2137

ClinVar Annotator: match by term: Hereditary antithrombin deficiency

NCBI chr 1:175,412,907...175,412,956

G

ATAC-STARR-seq lymphoblastoid silent region 1568

ClinVar Annotator: match by term: Hereditary antithrombin deficiency

NCBI chr 1:175,413,447...175,413,546

G

ATAC-STARR-seq lymphoblastoid active region 2138

ClinVar Annotator: match by term: Hereditary antithrombin deficiency

NCBI chr 1:175,600,660...175,600,729

G

ATAC-STARR-seq lymphoblastoid active region 2139

ClinVar Annotator: match by term: Hereditary antithrombin deficiency

NCBI chr 1:175,873,357...175,873,416

G

microRNA 1843

ClinVar Annotator: match by term: Hereditary antithrombin deficiency

NCBI chr 1:175,968,370...175,968,479

G

mitochondrial ribosomal protein S14

ClinVar Annotator: match by term: Hereditary antithrombin deficiency

NCBI chr 1:175,012,958...175,023,425
Ensembl chr 1:175,010,789...175,023,425

G

peroxiredoxin 6

ClinVar Annotator: match by term: Hereditary antithrombin deficiency

NCBI chr 1:173,477,335...173,488,815
Ensembl chr 1:173,477,330...173,488,815

G

PRDX6 antisense RNA 1

ClinVar Annotator: match by term: Hereditary antithrombin deficiency

NCBI chr 1:173,417,789...173,461,362
Ensembl chr 1:173,417,789...173,489,407

G

RAB GTPase activating protein 1 like

ClinVar Annotator: match by term: Hereditary antithrombin deficiency

NCBI chr 1:174,159,520...174,995,308
Ensembl chr 1:174,159,410...174,995,308

G

RABGAP1L antisense RNA 1

ClinVar Annotator: match by term: Hereditary antithrombin deficiency

NCBI chr 1:174,934,947...174,954,261
Ensembl chr 1:174,934,947...174,954,277

G

RABGAP1L divergent transcript

ClinVar Annotator: match by term: Hereditary antithrombin deficiency

NCBI chr 1:174,121,638...174,159,287
Ensembl chr 1:174,110,268...174,160,394

G

ring finger and CCCH-type domains 1

ClinVar Annotator: match by term: Hereditary antithrombin deficiency

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

NCBI chr 1:173,931,084...174,022,357
Ensembl chr 1:173,931,084...174,022,357

G

RC3H1 divergent transcript

ClinVar Annotator: match by term: Hereditary antithrombin deficiency

NCBI chr 1:174,022,483...174,023,190
Ensembl chr 1:174,021,681...174,023,628

G

small Cajal body-specific RNA 3

ClinVar Annotator: match by term: Hereditary antithrombin deficiency

NCBI chr 1:175,968,397...175,968,540
Ensembl chr 1:175,968,398...175,968,540

G

serpin family C member 1

susceptibility

ClinVar Annotator: match by term: Hereditary antithrombin deficiency
ClinVar Annotator: match by term: Reduced antithrombin III activity
ClinVar Annotator: match by term: Hereditary antithrombin deficiency | ClinVar Annotator: match by term: Reduced antithrombin III activity
OMIM:613118
CTD Direct Evidence: marker/mechanism

ClinVar
MouseDO
CTD
OMIM
RGD

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

NCBI chr 1:173,903,800...173,917,327
Ensembl chr 1:173,903,800...173,917,327

G

solute carrier family 9 member C2 (putative)

ClinVar Annotator: match by term: Hereditary antithrombin deficiency

NCBI chr 1:173,500,460...173,603,072
Ensembl chr 1:173,500,460...173,603,072

G

small nucleolar RNA, H/ACA box 103

ClinVar Annotator: match by term: Hereditary antithrombin deficiency

NCBI chr 1:173,866,205...173,866,290

G

small nucleolar RNA, C/D box 44

ClinVar Annotator: match by term: Hereditary antithrombin deficiency

NCBI chr 1:173,865,968...173,866,028

G

small nucleolar RNA, C/D box 47

ClinVar Annotator: match by term: Hereditary antithrombin deficiency

NCBI chr 1:173,864,369...173,864,445

G

small nucleolar RNA, C/D box 74

ClinVar Annotator: match by term: Hereditary antithrombin deficiency

NCBI chr 1:173,867,674...173,867,745

G

small nucleolar RNA, C/D box 75

ClinVar Annotator: match by term: Hereditary antithrombin deficiency

NCBI chr 1:173,866,879...173,866,938

G

small nucleolar RNA, C/D box 76

ClinVar Annotator: match by term: Hereditary antithrombin deficiency

NCBI chr 1:173,866,635...173,866,715

G

small nucleolar RNA, C/D box 77

ClinVar Annotator: match by term: Hereditary antithrombin deficiency

NCBI chr 1:173,866,301...173,866,370

G

small nucleolar RNA, C/D box 78

ClinVar Annotator: match by term: Hereditary antithrombin deficiency

NCBI chr 1:173,865,622...173,865,686

G

small nucleolar RNA, C/D box 79

ClinVar Annotator: match by term: Hereditary antithrombin deficiency

NCBI chr 1:173,865,350...173,865,430

G

small nucleolar RNA, C/D box 80

ClinVar Annotator: match by term: Hereditary antithrombin deficiency

NCBI chr 1:173,864,833...173,864,903

G

small nucleolar RNA, C/D box 81

ClinVar Annotator: match by term: Hereditary antithrombin deficiency

NCBI chr 1:173,864,146...173,864,222

G

testis expressed 50

ClinVar Annotator: match by term: Hereditary antithrombin deficiency

NCBI chr 1:173,635,338...173,637,130
Ensembl chr 1:173,635,338...173,637,130

G

TNF superfamily member 18

ClinVar Annotator: match by term: Hereditary antithrombin deficiency

NCBI chr 1:173,039,202...173,050,941
Ensembl chr 1:173,039,202...173,050,941

G

TNF superfamily member 4

ClinVar Annotator: match by term: Hereditary antithrombin deficiency

NCBI chr 1:173,172,870...173,450,733
Ensembl chr 1:173,162,645...173,477,583

G

tenascin N

ClinVar Annotator: match by term: Hereditary antithrombin deficiency

NCBI chr 1:175,067,833...175,148,075
Ensembl chr 1:175,067,833...175,148,075

G

tenascin R

ClinVar Annotator: match by term: Hereditary antithrombin deficiency

NCBI chr 1:175,315,194...175,743,595
Ensembl chr 1:175,315,194...175,743,595

G

zinc finger and BTB domain containing 37

ClinVar Annotator: match by term: Hereditary antithrombin deficiency

NCBI chr 1:173,868,082...173,903,547
Ensembl chr 1:173,868,082...173,903,547

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

DNA:insertion, missense mutations: :80A>G, 95C>T, 166_167insT (human)
ClinVar Annotator: match by term: APTX-related condition | ClinVar Annotator: match by term: Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia
CTD Direct Evidence: marker/mechanism
DNA:mutations:multiple:
DNA:missense mutation:cds:p.V320G(human)

ClinVar
CTD
OMIM
RGD

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

RGD:1599207, RGD:10054301, RGD:10054300

NCBI chr 9:32,972,616...33,025,120
Ensembl chr 9:32,886,601...33,025,130

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 chr19:49,861,204...49,867,576
Ensembl chr19:49,859,882...49,878,351

G

senataxin

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

NCBI chr 9:132,261,356...132,356,744
Ensembl chr 9:132,261,356...132,354,986

autoimmune lymphoproliferative syndrome type 3

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ATAC-STARR-seq lymphoblastoid active region 19963

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

PMID:9536098 PMID:17576681 PMID:28492532

NCBI chr 3:53,181,222...53,181,381

G

ATAC-STARR-seq lymphoblastoid active region 19967

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

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

NCBI chr 3:53,192,046...53,192,305

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 chr 3:53,161,209...53,192,717
Ensembl chr 3:53,156,009...53,192,717

G

RFT1 homolog

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

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

NCBI chr 3:53,066,853...53,130,435
Ensembl chr 3:53,066,853...53,130,453

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 chr 2:127,861,630...127,885,956
Ensembl chr 2:127,861,630...127,885,967

G

bridging integrator 1

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

PMID:3185623 PMID:17152060 PMID:28492532

NCBI chr 2:127,048,023...127,107,154
Ensembl chr 2:127,048,027...127,107,288

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 chr 2:127,183,832...127,220,299
Ensembl chr 2:127,183,832...127,220,313

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 chr 2:127,257,290...127,294,144
Ensembl chr 2:127,257,290...127,294,166

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 chr 2:127,646,153...127,652,639
Ensembl chr 2:127,645,864...127,652,639

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 chr 2:128,265,480...128,318,868
Ensembl chr 2:128,236,716...128,318,868

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 chr 2:127,480,812...127,527,336
Ensembl chr 2:127,436,207...127,526,886

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 chr 2:127,638,426...127,681,786
Ensembl chr 2:127,638,381...127,681,786

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 chr 2:127,298,668...127,388,465
Ensembl chr 2:127,298,668...127,388,465

G

myosin VIIB

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

PMID:3185623 PMID:17152060 PMID:28492532

NCBI chr 2:127,535,683...127,637,726
Ensembl chr 2:127,535,683...127,637,729

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 chr 2:127,843,553...127,858,155
Ensembl chr 2:127,843,553...127,858,155

G

protein C, inactivator of coagulation factors Va and VIIIa

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

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

NCBI chr 2:127,418,427...127,429,242
Ensembl chr 2:127,418,427...127,429,242

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 chr 2:127,941,222...128,028,059
Ensembl chr 2:127,941,217...128,028,120

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 chr 2:127,701,497...127,705,242
Ensembl chr 2:127,701,497...127,705,242

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 chr 2:128,091,200...128,195,677
Ensembl chr 2:128,091,200...128,195,677

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 chr 2:127,701,027...127,811,171
Ensembl chr 2:127,701,027...127,811,187

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: Thrombophilia due to protein S deficiency, autosomal dominant
ClinVar Annotator: match by term: PROS1-related condition | ClinVar Annotator: match by term: Thrombophilia due to protein S deficiency, autosomal dominant
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
CTD

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

NCBI chr 3:93,873,051...93,973,896
Ensembl chr 3:93,873,051...93,980,003

autosomal recessive osteopetrosis 7

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ATAC-STARR-seq lymphoblastoid silent region 9505

ClinVar Annotator: match by term: Autosomal recessive osteopetrosis 7
ClinVar Annotator: match by term: Autosomal recessive osteoclast-poor osteopetrosis with hypogammaglobulinemia | ClinVar Annotator: match by term: Autosomal recessive osteopetrosis 7

PMID:25741868 PMID:28492532

NCBI chr18:62,325,202...62,325,401

G

TNF receptor superfamily member 11a

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

ClinVar
CTD
OMIM

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

NCBI chr18:62,325,310...62,391,288
Ensembl chr18:62,325,287...62,391,288

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 chr 2:127,418,427...127,429,242
Ensembl chr 2:127,418,427...127,429,242

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 chr 3:93,980,155...94,055,678
Ensembl chr 3:93,980,139...94,055,678

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 chr 3:94,057,922...94,063,320
Ensembl chr 3:94,047,836...94,063,389

G

Sharpr-MPRA regulatory region 12381

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

NCBI chr 3:93,971,545...93,971,839

G

ATAC-STARR-seq lymphoblastoid active region 20122

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

NCBI chr 3:93,979,763...93,979,922

G

ATAC-STARR-seq lymphoblastoid active region 20123

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

NCBI chr 3:93,980,193...93,980,322

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 chr 3:94,063,061...94,131,832
Ensembl chr 3:94,062,980...94,131,832

G

protein S

ClinVar Annotator: match by term: Thrombophilia due to protein S deficiency, autosomal recessive
CTD Direct Evidence: marker/mechanism

ClinVar
CTD
OMIM

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

NCBI chr 3:93,873,051...93,973,896
Ensembl chr 3:93,873,051...93,980,003

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 chr 3:94,014,365...94,028,597
Ensembl chr 3:94,014,365...94,028,597

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 chr20:46,118,314...46,129,858
Ensembl chr20:46,118,271...46,129,863

G

CD40 ligand

disease_progression

IDA
IAGP
ISO
EXP

ClinVar Annotator: match by term: Immunodeficiency, X-linked, with hyper-IgM | ClinVar Annotator: match by term: X-linked hyper-IgM syndrome
CTD Direct Evidence: marker/mechanism
DNA:mutations:multiple (human)
DNA:mutations:exon, intron:multiple
DNA:missense mutation:exon:p.T169N (526T>A) (human)

ClinVar
RGD
CTD
OMIM

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

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

NCBI chr X:136,648,158...136,660,390
Ensembl chr X:136,648,158...136,660,390

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 chr17:7,217,125...7,225,266
Ensembl chr17:7,217,125...7,225,266

G

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

ClinVar Annotator: match by term: Common variable immunodeficiency

NCBI chr17:7,336,529...7,351,477
Ensembl chr17:7,336,529...7,351,477

G

arachidonate 12-lipoxygenase, 12S type

ClinVar Annotator: match by term: Common variable immunodeficiency

NCBI chr17:6,996,049...7,010,754
Ensembl chr17:6,996,049...7,010,754

G

arachidonate 12-lipoxygenase, 12R type

ClinVar Annotator: match by term: Common variable immunodeficiency

NCBI chr17:8,072,636...8,087,716
Ensembl chr17:8,072,636...8,087,716

G

arachidonate 15-lipoxygenase type B

ClinVar Annotator: match by term: Common variable immunodeficiency

NCBI chr17:8,039,059...8,049,134
Ensembl chr17:8,039,034...8,049,134

G

arachidonate epidermal lipoxygenase 3

ClinVar Annotator: match by term: Common variable immunodeficiency

NCBI chr17:8,095,900...8,118,916
Ensembl chr17:8,095,900...8,119,047

G

asialoglycoprotein receptor 1

ClinVar Annotator: match by term: Common variable immunodeficiency

NCBI chr17:7,173,431...7,179,370
Ensembl chr17:7,173,431...7,179,564

G

asialoglycoprotein receptor 2

ClinVar Annotator: match by term: Common variable immunodeficiency

NCBI chr17:7,101,322...7,115,146
Ensembl chr17:7,101,322...7,115,700

G

ATPase Na+/K+ transporting subunit beta 2

ClinVar Annotator: match by term: Common variable immunodeficiency

NCBI chr17:7,646,627...7,657,770
Ensembl chr17:7,646,627...7,657,770

G

aurora kinase B

ClinVar Annotator: match by term: Common variable immunodeficiency

NCBI chr17:8,204,731...8,210,575
Ensembl chr17:8,204,733...8,210,600

G

BPTF associated chromatin complex component 1

ClinVar Annotator: match by term: Common variable immunodeficiency

NCBI chr17:7,014,782...7,017,520
Ensembl chr17:7,014,495...7,017,525

G

BCL6B transcription repressor

ClinVar Annotator: match by term: Common variable immunodeficiency

NCBI chr17:7,023,050...7,029,644
Ensembl chr17:7,023,050...7,030,290

G

BLOC-1 related complex subunit 6

ClinVar Annotator: match by term: Common variable immunodeficiency

NCBI chr17:8,188,345...8,190,180
Ensembl chr17:8,188,345...8,190,180

G

Bruton tyrosine kinase

ClinVar Annotator: match by term: Common variable immunodeficiency

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

NCBI chr X:101,349,450...101,390,796
Ensembl chr X:101,349,338...101,390,796

G

CD19 molecule

CTD Direct Evidence: marker/mechanism

NCBI chr16:28,931,971...28,939,342
Ensembl chr16:28,931,965...28,939,342

G

CD40 ligand

ClinVar Annotator: match by term: Common variable immunodeficiency

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

NCBI chr X:136,648,158...136,660,390
Ensembl chr X:136,648,158...136,660,390

G

CD68 molecule

ClinVar Annotator: match by term: Common variable immunodeficiency

NCBI chr17:7,579,638...7,582,111
Ensembl chr17:7,579,491...7,582,111

G

CD81 molecule

CTD Direct Evidence: marker/mechanism

NCBI chr11:2,376,180...2,397,397
Ensembl chr11:2,376,177...2,397,802

G

chromodomain helicase DNA binding protein 3

ClinVar Annotator: match by term: Common variable immunodeficiency

NCBI chr17:7,884,796...7,912,755
Ensembl chr17:7,884,796...7,912,760

G

cholinergic receptor nicotinic beta 1 subunit

ClinVar Annotator: match by term: Common variable immunodeficiency

NCBI chr17:7,445,061...7,457,710
Ensembl chr17:7,445,061...7,457,710

G

claudin 7

ClinVar Annotator: match by term: Common variable immunodeficiency

NCBI chr17:7,259,903...7,263,213
Ensembl chr17:7,259,903...7,263,983

G

C-type lectin domain containing 10A

ClinVar Annotator: match by term: Common variable immunodeficiency

NCBI chr17:7,074,537...7,080,251
Ensembl chr17:7,074,537...7,080,307

G

centrobin, centriole duplication and spindle assembly protein

ClinVar Annotator: match by term: Common variable immunodeficiency

NCBI chr17:7,932,081...7,949,920
Ensembl chr17:7,932,101...7,949,920

G

complement C3d receptor 2

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

PMID:25741868 PMID:28492532

NCBI chr 1:207,454,328...207,489,892
Ensembl chr 1:207,453,024...207,489,895

G

CST telomere replication complex component 1

ClinVar Annotator: match by term: Common variable immunodeficiency

NCBI chr17:8,224,815...8,248,056
Ensembl chr17:8,224,815...8,248,058

G

CTD nuclear envelope phosphatase 1

ClinVar Annotator: match by term: Common variable immunodeficiency

NCBI chr17:7,243,591...7,251,978
Ensembl chr17:7,243,591...7,252,491

G

cytochrome b5 domain containing 1

ClinVar Annotator: match by term: Common variable immunodeficiency

NCBI chr17:7,858,003...7,862,282
Ensembl chr17:7,857,746...7,862,282

G

DNA cross-link repair 1C

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

RGD

NCBI chr10:14,897,359...14,954,432
Ensembl chr10:14,897,359...14,954,432

G

discs large MAGUK scaffold protein 4

ClinVar Annotator: match by term: Common variable immunodeficiency

NCBI chr17:7,187,187...7,220,050
Ensembl chr17:7,187,187...7,219,836

G

dynein axonemal heavy chain 2

ClinVar Annotator: match by term: Common variable immunodeficiency

NCBI chr17:7,717,744...7,833,742
Ensembl chr17:7,717,744...7,833,742

G

dishevelled segment polarity protein 2

ClinVar Annotator: match by term: Common variable immunodeficiency

NCBI chr17:7,225,342...7,234,517
Ensembl chr17:7,225,342...7,234,517

G

ephrin B3

ClinVar Annotator: match by term: Common variable immunodeficiency

NCBI chr17:7,705,202...7,711,372
Ensembl chr17:7,705,202...7,711,372

G

eukaryotic translation initiation factor 4A1

ClinVar Annotator: match by term: Common variable immunodeficiency

NCBI chr17:7,572,825...7,579,006
Ensembl chr17:7,572,824...7,579,006

G

eukaryotic translation initiation factor 5A

ClinVar Annotator: match by term: Common variable immunodeficiency

NCBI chr17:7,306,999...7,312,463
Ensembl chr17:7,306,999...7,312,463

G

elongator acetyltransferase complex subunit 5

ClinVar Annotator: match by term: Common variable immunodeficiency

NCBI chr17:7,251,724...7,259,940
Ensembl chr17:7,251,416...7,259,940

G

F-box protein 39

ClinVar Annotator: match by term: Common variable immunodeficiency

NCBI chr17:6,776,215...6,787,646
Ensembl chr17:6,776,215...6,797,101

G

Fc gamma receptor IIa

protein:decreased expression:blood, monocyte

RGD

NCBI chr 1:161,505,457...161,524,048
Ensembl chr 1:161,505,430...161,524,013

G

fibroblast growth factor 11

ClinVar Annotator: match by term: Common variable immunodeficiency

NCBI chr17:7,438,298...7,444,937
Ensembl chr17:7,438,273...7,444,937

G

FMR1 autosomal homolog 2

ClinVar Annotator: match by term: Common variable immunodeficiency

NCBI chr17:7,591,230...7,614,897
Ensembl chr17:7,591,230...7,614,897

G

GABA type A receptor-associated protein

ClinVar Annotator: match by term: Common variable immunodeficiency

NCBI chr17:7,240,008...7,242,449
Ensembl chr17:7,240,008...7,242,449

G

G protein pathway suppressor 2

ClinVar Annotator: match by term: Common variable immunodeficiency

NCBI chr17:7,312,661...7,315,360
Ensembl chr17:7,311,324...7,315,564

G

guanylate cyclase 2D, retinal

ClinVar Annotator: match by term: Common variable immunodeficiency

NCBI chr17:8,002,615...8,020,342
Ensembl chr17:8,002,615...8,020,342

G

hes family bHLH transcription factor 7

ClinVar Annotator: match by term: Common variable immunodeficiency

NCBI chr17:8,120,592...8,126,634
Ensembl chr17:8,120,592...8,124,106

G

major histocompatibility complex, class II, DQ beta 1

DNA:polymorphisms (human)

RGD

NCBI chr 6:32,659,467...32,666,657
Ensembl chr 6:32,659,467...32,668,383

G

inducible T cell costimulator

CTD Direct Evidence: marker/mechanism

NCBI chr 2:203,936,763...203,961,577
Ensembl chr 2:203,936,763...203,961,577

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:154,541,238...154,565,046
Ensembl chr X:154,541,199...154,565,046

G

IKAROS family zinc finger 1

CTD Direct Evidence: marker/mechanism

NCBI chr 7:50,303,455...50,405,101
Ensembl chr 7:50,304,068...50,405,101

G

interleukin 21

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

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

NCBI chr 4:122,610,108...122,621,066
Ensembl chr 4:122,610,108...122,621,066

G

IL21 antisense RNA 1

ClinVar Annotator: match by term: IL21 DEFICIENCY

PMID:24746753 PMID:25741868 PMID:28492532

NCBI chr 4:122,618,983...122,689,156
Ensembl chr 4:122,618,983...122,689,164

G

interleukin 21 receptor

DNA:SNPs:exons:

RGD

NCBI chr16:27,402,174...27,452,042
Ensembl chr16:27,402,174...27,452,042

G

potassium voltage-gated channel subfamily A regulatory beta subunit 3

ClinVar Annotator: match by term: Common variable immunodeficiency

NCBI chr17:7,921,859...7,929,856
Ensembl chr17:7,921,859...7,929,856

G

potassium channel tetramerization domain containing 11

ClinVar Annotator: match by term: Common variable immunodeficiency

NCBI chr17:7,352,162...7,354,944
Ensembl chr17:7,351,889...7,354,944

G

lysine demethylase 6B

ClinVar Annotator: match by term: Common variable immunodeficiency

NCBI chr17:7,834,217...7,854,796
Ensembl chr17:7,834,217...7,854,796

G

CDK7 strongly-dependent group 2 enhancer GRCh37_chr4:123541308-123542507

ClinVar Annotator: match by term: IL21 DEFICIENCY

PMID:24746753 PMID:25741868 PMID:28492532

NCBI chr 4:122,620,153...122,621,352

G

ATAC-STARR-seq lymphoblastoid silent region 8127

ClinVar Annotator: match by term: Common variable immunodeficiency

PMID:25741868 PMID:28492532

NCBI chr17:7,549,173...7,549,252

G

ATAC-STARR-seq lymphoblastoid silent region 13813

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

NCBI chr22:41,926,127...41,926,866

G

mannosidase beta

ClinVar Annotator: match by term: Common variable immunodeficiency

NCBI chr 4:102,630,770...102,760,968
Ensembl chr 4:102,630,770...102,760,994

G

mannose binding lectin 2

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

RGD

NCBI chr10:52,765,380...52,772,784
Ensembl chr10:52,765,380...52,772,784

G

microRNA 195

ClinVar Annotator: match by term: Common variable immunodeficiency

NCBI chr17:7,017,615...7,017,701
Ensembl chr17:7,017,615...7,017,701

G

mir-497-195 cluster host gene

ClinVar Annotator: match by term: Common variable immunodeficiency

NCBI chr17:7,015,818...7,019,654
Ensembl chr17:6,875,232...7,019,659

G

mannose-P-dolichol utilization defect 1

ClinVar Annotator: match by term: Common variable immunodeficiency

NCBI chr17:7,583,647...7,588,212
Ensembl chr17:7,583,529...7,592,789

G

membrane spanning 4-domains A1

CTD Direct Evidence: marker/mechanism

NCBI chr11:60,455,847...60,470,752
Ensembl chr11:60,455,846...60,470,752

G

N-alpha-acetyltransferase 38, NatC auxiliary subunit

ClinVar Annotator: match by term: Common variable immunodeficiency

NCBI chr17:7,856,685...7,885,420
Ensembl chr17:7,856,685...7,885,238

G

neuralized E3 ubiquitin protein ligase 4

ClinVar Annotator: match by term: Common variable immunodeficiency

NCBI chr17:7,315,628...7,329,335
Ensembl chr17:7,315,628...7,329,393

G

nuclear factor kappa B subunit 1

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

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

NCBI chr 4:102,501,359...102,617,302
Ensembl chr 4:102,501,330...102,617,302

G

nuclear factor kappa B subunit 2

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

CTD
MouseDO
ClinVar

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

NCBI chr10:102,394,110...102,402,529
Ensembl chr10:102,394,110...102,402,524

G

neuroligin 2

ClinVar Annotator: match by term: Common variable immunodeficiency

NCBI chr17:7,404,653...7,419,860
Ensembl chr17:7,404,874...7,419,860

G

platelet and endothelial cell adhesion molecule 1

protein:decreased expression:T cell (human)

RGD

NCBI chr17:64,319,415...64,390,860
Ensembl chr17:64,319,415...64,413,776

G

period circadian regulator 1

ClinVar Annotator: match by term: Common variable immunodeficiency

NCBI chr17:8,140,472...8,152,404
Ensembl chr17:8,140,467...8,156,506

G

PHD finger protein 23

ClinVar Annotator: match by term: Common variable immunodeficiency

NCBI chr17:7,235,038...7,240,828
Ensembl chr17:7,235,029...7,239,722

G

phospholipid scramblase 3

ClinVar Annotator: match by term: Common variable immunodeficiency

NCBI chr17:7,389,727...7,394,525
Ensembl chr17:7,389,727...7,394,842

G

RNA polymerase II subunit A

ClinVar Annotator: match by term: Common variable immunodeficiency

NCBI chr17:7,484,366...7,514,616
Ensembl chr17:7,484,366...7,514,616

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 chr10:102,402,619...102,419,946
Ensembl chr10:102,402,617...102,421,539

G

recombination activating 2

ClinVar Annotator: match by term: Common variable immunodeficiency

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

NCBI chr11:36,590,996...36,598,236
Ensembl chr11:36,575,574...36,598,279

G

ribonuclease K

ClinVar Annotator: match by term: Common variable immunodeficiency

NCBI chr17:7,012,624...7,014,532
Ensembl chr17:7,012,417...7,014,532

G

spermidine/spermine N1-acetyltransferase family member 2

ClinVar Annotator: match by term: Common variable immunodeficiency

NCBI chr17:7,626,234...7,627,876
Ensembl chr17:7,626,234...7,627,876

G

SUMO specific peptidase 3

ClinVar Annotator: match by term: Common variable immunodeficiency

NCBI chr17:7,561,919...7,571,969
Ensembl chr17:7,561,919...7,571,969

G

sex hormone binding globulin

ClinVar Annotator: match by term: Common variable immunodeficiency

NCBI chr17:7,614,064...7,633,372
Ensembl chr17:7,613,946...7,633,382

G

solute carrier family 13 member 5

ClinVar Annotator: match by term: Common variable immunodeficiency

NCBI chr17:6,684,719...6,713,369
Ensembl chr17:6,684,719...6,713,377

G

solute carrier family 16 member 11

ClinVar Annotator: match by term: Common variable immunodeficiency

NCBI chr17:7,041,621...7,044,092
Ensembl chr17:7,041,621...7,044,092

G

solute carrier family 16 member 13

ClinVar Annotator: match by term: Common variable immunodeficiency

NCBI chr17:7,036,015...7,040,117
Ensembl chr17:7,036,015...7,040,117

G

solute carrier family 2 member 4

ClinVar Annotator: match by term: Common variable immunodeficiency

NCBI chr17:7,281,718...7,288,257
Ensembl chr17:7,281,718...7,288,257

G

solute carrier family 35 member G6

ClinVar Annotator: match by term: Common variable immunodeficiency

NCBI chr17:7,481,446...7,483,496
Ensembl chr17:7,481,446...7,483,496

G

SRY-box transcription factor 15

ClinVar Annotator: match by term: Common variable immunodeficiency

NCBI chr17:7,588,178...7,590,094
Ensembl chr17:7,588,178...7,590,094

G

spermatid maturation 1

ClinVar Annotator: match by term: Common variable immunodeficiency

NCBI chr17:7,420,324...7,421,632
Ensembl chr17:7,420,324...7,421,632

G

SPEM family member 2

ClinVar Annotator: match by term: Common variable immunodeficiency

NCBI chr17:7,425,616...7,427,568
Ensembl chr17:7,425,616...7,427,568

G

tektin 1

ClinVar Annotator: match by term: Common variable immunodeficiency

NCBI chr17:6,797,993...6,831,729
Ensembl chr17:6,789,133...6,831,761

G

transmembrane protein 102

ClinVar Annotator: match by term: Common variable immunodeficiency

NCBI chr17:7,435,435...7,437,679
Ensembl chr17:7,435,435...7,437,679

G

transmembrane protein 107

ClinVar Annotator: match by term: Common variable immunodeficiency

NCBI chr17:8,172,457...8,176,380
Ensembl chr17:8,172,457...8,176,399

G

transmembrane protein 256

ClinVar Annotator: match by term: Common variable immunodeficiency

NCBI chr17:7,402,975...7,404,097
Ensembl chr17:7,402,975...7,404,097

G

transmembrane protein 88

ClinVar Annotator: match by term: Common variable immunodeficiency

NCBI chr17:7,855,066...7,856,099
Ensembl chr17:7,855,066...7,856,099

G

transmembrane protein 95

ClinVar Annotator: match by term: Common variable immunodeficiency

NCBI chr17:7,355,156...7,357,219
Ensembl chr17:7,355,123...7,357,219

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

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

NCBI chr17:16,939,081...16,972,118
Ensembl chr17:16,929,816...16,972,118

G

TNF receptor superfamily member 13C

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

NCBI chr22:41,922,032...41,926,806
Ensembl chr22:41,922,032...41,926,806

G

TNF superfamily member 12

ClinVar Annotator: match by term: Common variable immunodeficiency
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 chr17:7,549,058...7,557,881
Ensembl chr17:7,548,508...7,557,890

G

TNFSF12-TNFSF13

TNFSF12-TNFSF13 readthrough

ClinVar Annotator: match by term: Common variable immunodeficiency
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 chr17:7,549,058...7,561,601
Ensembl chr17:7,549,099...7,561,601

G

TNF superfamily member 13

ClinVar Annotator: match by term: Common variable immunodeficiency

NCBI chr17:7,558,282...7,561,601
Ensembl chr17:7,558,292...7,561,608

G

tyrosine kinase non receptor 1

ClinVar Annotator: match by term: Common variable immunodeficiency

NCBI chr17:7,380,047...7,389,742
Ensembl chr17:7,380,534...7,389,774

G

tumor protein p53

ClinVar Annotator: match by term: Common variable immunodeficiency

NCBI chr17:7,668,421...7,687,490
Ensembl chr17:7,661,779...7,687,546

G

trafficking protein particle complex subunit 1

ClinVar Annotator: match by term: Common variable immunodeficiency

NCBI chr17:7,930,345...7,931,999
Ensembl chr17:7,930,345...7,932,123

G

tRNA-Gly (anticodon GCC) 2-6

ClinVar Annotator: match by term: Common variable immunodeficiency

NCBI chr17:8,125,746...8,125,816

G

tRNA-Lys (anticodon TTT) 3-5

ClinVar Annotator: match by term: Common variable immunodeficiency

NCBI chr17:8,119,155...8,119,227

G

tRNA-Leu (anticodon TAG) 1-1

ClinVar Annotator: match by term: Common variable immunodeficiency

NCBI chr17:8,120,314...8,120,395

G

tRNA-Gln (anticodon CTG) 1-5

ClinVar Annotator: match by term: Common variable immunodeficiency

NCBI chr17:8,119,752...8,119,823

G

tRNA-Arg (anticodon TCT) 2-1

ClinVar Annotator: match by term: Common variable immunodeficiency

NCBI chr17:8,120,925...8,121,012

G

tetratricopeptide repeat domain 7A

ClinVar Annotator: match by term: Common variable immunodeficiency

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

NCBI chr 2:46,915,866...47,076,123
Ensembl chr 2:46,915,869...47,076,137

G

vesicle associated membrane protein 2

ClinVar Annotator: match by term: Common variable immunodeficiency

NCBI chr17:8,159,147...8,162,948
Ensembl chr17:8,159,149...8,163,546

G

WD repeat containing antisense to TP53

ClinVar Annotator: match by term: Common variable immunodeficiency

NCBI chr17:7,686,071...7,703,502
Ensembl chr17:7,686,071...7,703,502

G

XIAP associated factor 1

ClinVar Annotator: match by term: Common variable immunodeficiency

NCBI chr17:6,755,447...6,775,647
Ensembl chr17:6,755,447...6,775,647

G

Y-box binding protein 2

ClinVar Annotator: match by term: Common variable immunodeficiency

NCBI chr17:7,288,263...7,294,639
Ensembl chr17:7,288,263...7,294,639

G

zinc finger and BTB domain containing 4

ClinVar Annotator: match by term: Common variable immunodeficiency

NCBI chr17:7,459,378...7,484,249
Ensembl chr17:7,459,366...7,484,263

common variable immunodeficiency 1

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

abl interactor 2

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

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

NCBI chr 2:203,328,394...203,432,169
Ensembl chr 2:203,328,280...203,447,728

G

alsin Rho guanine nucleotide exchange factor ALS2

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

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

NCBI chr 2:201,700,267...201,780,933
Ensembl chr 2:201,700,267...201,782,112

G

bone morphogenetic protein receptor type 2

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

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

NCBI chr 2:202,376,327...202,567,749
Ensembl chr 2:202,376,327...202,567,751

G

C2 calcium dependent domain containing 6

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

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

NCBI chr 2:201,487,421...201,619,178
Ensembl chr 2:201,487,421...201,619,178

G

calcium responsive transcription factor

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

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

NCBI chr 2:202,912,275...202,988,263
Ensembl chr 2:202,912,214...202,988,263

G

caspase 10

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

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

NCBI chr 2:201,183,141...201,229,406
Ensembl chr 2:201,182,872...201,229,428

G

caspase 8

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

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

NCBI chr 2:201,233,463...201,287,711
Ensembl chr 2:201,233,443...201,361,836

G

CD28 molecule

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

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

NCBI chr 2:203,706,482...203,738,912
Ensembl chr 2:203,706,517...203,739,756

G

cyclin dependent kinase 15

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

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

NCBI chr 2:201,806,429...201,895,550
Ensembl chr 2:201,790,461...201,895,550

G

CASP8 and FADD like apoptosis regulator

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

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

NCBI chr 2:201,116,164...201,176,687
Ensembl chr 2:201,116,154...201,176,687

G

cytotoxic T-lymphocyte associated protein 4

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

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

NCBI chr 2:203,867,771...203,873,965
Ensembl chr 2:203,853,888...203,873,965

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 chr 2:203,239,018...203,306,026
Ensembl chr 2:203,238,977...203,306,026

G

family with sequence similarity 117 member B

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

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

NCBI chr 2:202,634,969...202,769,757
Ensembl chr 2:202,634,969...202,769,757

G

flagellum associated containing coiled-coil domains 1

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

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

NCBI chr 2:201,288,271...201,364,289
Ensembl chr 2:201,288,271...201,357,398

G

frizzled class receptor 7

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

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

NCBI chr 2:202,033,855...202,038,441
Ensembl chr 2:202,033,855...202,038,441

G

islet cell autoantigen 1 like

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

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

NCBI chr 2:202,773,176...202,871,766
Ensembl chr 2:202,773,150...202,871,766

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 chr 2:203,936,763...203,961,577
Ensembl chr 2:203,936,763...203,961,577

G

MAGUK p55 scaffold protein 4

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

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

NCBI chr 2:201,644,874...201,698,644
Ensembl chr 2:201,644,870...201,698,694

G

neurobeachin like 1

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

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

NCBI chr 2:203,014,608...203,225,194
Ensembl chr 2:203,014,608...203,226,378

G

NADH:ubiquinone oxidoreductase subunit B3

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

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

NCBI chr 2:201,072,001...201,085,750
Ensembl chr 2:201,071,433...201,085,750

G

nuclear factor kappa B subunit 2

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

PMID:24140114 PMID:28492532

NCBI chr10:102,394,110...102,402,529
Ensembl chr10:102,394,110...102,402,524

G

NOP58 ribonucleoprotein

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

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

NCBI chr 2:202,265,763...202,303,661
Ensembl chr 2:202,265,736...202,303,661

G

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

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

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

NCBI chr 2:203,433,682...203,535,301
Ensembl chr 2:203,394,345...203,535,335

G

STE20 related adaptor beta

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

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

NCBI chr 2:201,451,740...201,480,846
Ensembl chr 2:201,387,858...201,480,846

G

small ubiquitin like modifier 1

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

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

NCBI chr 2:202,206,171...202,238,597
Ensembl chr 2:202,206,182...202,238,599

G

transmembrane protein 237

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

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

NCBI chr 2:201,620,186...201,643,503
Ensembl chr 2:201,620,184...201,643,570

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 chr17:16,939,081...16,972,118
Ensembl chr17:16,929,816...16,972,118

G

trafficking kinesin protein 2

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

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

NCBI chr 2:201,377,207...201,451,458
Ensembl chr 2:201,377,207...201,451,500

G

WD repeat domain 12

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

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

NCBI chr 2:202,874,261...202,911,673
Ensembl chr 2:202,874,261...203,014,798

common variable immunodeficiency 10

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

Sharpr-MPRA regulatory region 13585

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

PMID:24033266 PMID:25741868 PMID:28492532

NCBI chr10:102,397,772...102,398,066

G

ATAC-STARR-seq lymphoblastoid active region 3929

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

NCBI chr10:102,396,181...102,396,300

G

ATAC-STARR-seq lymphoblastoid silent region 2756

ClinVar Annotator: match by term: Immunodeficiency, common variable, 10
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:17576681 PMID:24033266 PMID:25741868 More...

NCBI chr10:102,399,281...102,399,600

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 chr10:102,394,110...102,402,529
Ensembl chr10:102,394,110...102,402,524

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 chr10:102,402,619...102,419,946
Ensembl chr10:102,402,617...102,421,539

G

stromal interaction molecule 1

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

PMID:25741868 PMID:28492532

NCBI chr11:3,854,604...4,093,210
Ensembl chr11:3,854,527...4,093,210

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 4:122,610,108...122,621,066
Ensembl chr 4:122,610,108...122,621,066

G

IL21 antisense RNA 1

ClinVar Annotator: match by term: Common variable immunodeficiency 11

PMID:24746753 PMID:25741868 PMID:28492532

NCBI chr 4:122,618,983...122,689,156
Ensembl chr 4:122,618,983...122,689,164

G

CDK7 strongly-dependent group 2 enhancer GRCh37_chr4:123541308-123542507

ClinVar Annotator: match by term: Common variable immunodeficiency 11

PMID:24746753 PMID:25741868 PMID:28492532

NCBI chr 4:122,620,153...122,621,352

common variable immunodeficiency 12

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

CDK7 strongly-dependent group 2 enhancer GRCh37_chr4:103521788-103522987

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

PMID:25741868 PMID:28492532

NCBI chr 4:102,600,631...102,601,830

G

nuclear factor kappa B subunit 1

ClinVar Annotator: match by term: Immunodeficiency, common variable, 12
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 4:102,501,359...102,617,302
Ensembl chr 4:102,501,330...102,617,302

G

NFKB inhibitor delta

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

NCBI chr19:35,887,952...35,902,303
Ensembl chr19:35,887,630...35,902,303

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: Immunodeficiency, common variable, 13
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 chr 7:50,303,455...50,405,101
Ensembl chr 7:50,304,068...50,405,101

common variable immunodeficiency 14

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

novel transcript

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

NCBI chr 1:234,646,289...234,660,924
Ensembl chr 1:234,646,289...234,683,176

G

AT-rich interaction domain 4B

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

NCBI chr 1:235,166,902...235,328,179
Ensembl chr 1:235,131,634...235,328,219

G

beta-1,3-N-acetylgalactosaminyltransferase 2

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

NCBI chr 1:235,439,796...235,504,452
Ensembl chr 1:235,447,190...235,504,452

G

cytochrome c oxidase assembly factor 6

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

NCBI chr 1:234,373,456...234,385,080
Ensembl chr 1:234,373,456...234,385,080

G

COA6 antisense RNA 1

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

NCBI chr 1:234,372,807...234,373,593
Ensembl chr 1:234,372,802...234,373,857

G

geranylgeranyl diphosphate synthase 1

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

NCBI chr 1:235,327,216...235,344,532
Ensembl chr 1:235,327,350...235,344,532

G

G protein subunit gamma 4

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

NCBI chr 1:235,547,685...235,650,608
Ensembl chr 1:235,547,685...235,650,754

G

interferon regulatory factor 2 binding protein 2

ClinVar Annotator: match by term: Immunodeficiency, common variable, 14
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 chr 1:234,604,269...234,610,178
Ensembl chr 1:234,602,300...234,610,178

G

potassium two pore domain channel subfamily K member 1

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

NCBI chr 1:233,614,106...233,672,514
Ensembl chr 1:233,614,106...233,672,514

G

long intergenic non-protein coding RNA 184

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

NCBI chr 1:234,629,311...234,634,780
Ensembl chr 1:234,609,295...234,637,418

G

long intergenic non-protein coding RNA 1132

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

NCBI chr 1:234,724,042...234,731,643
Ensembl chr 1:234,724,042...234,744,590

G

long intergenic non-protein coding RNA 1348

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

NCBI chr 1:235,065,474...235,069,818
Ensembl chr 1:235,054,610...235,074,378

G

long intergenic non-protein coding RNA 1354

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

NCBI chr 1:234,527,891...234,531,779
Ensembl chr 1:234,502,343...234,532,575

G

long intergenic non-protein coding RNA 2768

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

NCBI chr 1:235,911,034...235,972,511
Ensembl chr 1:235,910,386...235,972,511

G

long intergenic non-protein coding RNA 2961

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

NCBI chr 1:234,757,619...234,760,056
Ensembl chr 1:234,757,619...234,760,056

G

long intergenic non-protein coding RNA 2971

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

NCBI chr 1:234,957,199...234,959,989
Ensembl chr 1:234,953,871...234,960,590

G

long intergenic non-protein coding RNA 3108

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

NCBI chr 1:234,974,741...234,980,776

G

lncRNA negative regulator of antiviral signaling

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

NCBI chr 1:234,957,342...234,963,999
Ensembl chr 1:234,957,342...234,970,062

G

uncharacterized LOC105373209

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

NCBI chr 1:234,676,442...234,683,181

G

meiotic recombination hotspot NID1

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

NCBI chr 1:236,036,058...236,040,337

G

meiotic recombination hotspot NID2

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

NCBI chr 1:235,994,133...236,001,318

G

meiotic recombination hotspot NID3

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

NCBI chr 1:235,971,492...235,974,491

G

MS32 minisatellite repeat instability region

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

NCBI chr 1:236,096,118...236,097,991

G

NFE2L2 motif-containing MPRA enhancer 72

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

NCBI chr 1:234,583,798...234,583,942

G

GATA motif-containing MPRA enhancer 94/95

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

NCBI chr 1:234,876,448...234,876,592

G

Sharpr-MPRA regulatory region 10666

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

NCBI chr 1:234,643,123...234,643,417

G

Sharpr-MPRA regulatory region 7312

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

NCBI chr 1:234,700,210...234,700,536

G

NANOG-H3K27ac-H3K4me1 hESC enhancers GRCh37_chr1:235122747-235123286 and GRCh37_chr1:235122207-235122746

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

NCBI chr 1:234,986,460...234,987,539

G

Sharpr-MPRA regulatory region 4658

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

NCBI chr 1:235,011,714...235,012,773

G

Sharpr-MPRA regulatory region 5019

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

NCBI chr 1:235,048,142...235,048,436

G

P300/CBP strongly-dependent group 1 enhancer GRCh37_chr1:236259904-236261103

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

NCBI chr 1:236,096,604...236,097,803

G

Sharpr-MPRA regulatory region 5532

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

NCBI chr 1:233,518,423...233,518,717

G

Sharpr-MPRA regulatory region 1313

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

NCBI chr 1:234,206,963...234,207,257

G

Sharpr-MPRA regulatory region 10620

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

NCBI chr 1:234,314,043...234,314,337

G

Sharpr-MPRA regulatory region 12347

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

NCBI chr 1:234,499,123...234,499,417

G

Sharpr-MPRA regulatory region 10256

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

NCBI chr 1:234,523,126...234,523,477

G

CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:234907153-234908352

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

NCBI chr 1:234,771,406...234,772,681

G

Sharpr-MPRA regulatory region 12865

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

NCBI chr 1:234,851,542...234,851,836

G

Sharpr-MPRA regulatory region 13312

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

NCBI chr 1:235,253,274...235,253,568

G

Sharpr-MPRA regulatory region 105

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

NCBI chr 1:235,647,989...235,648,283

G

Sharpr-MPRA regulatory region 14716

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

NCBI chr 1:234,535,783...234,536,077

G

Sharpr-MPRA regulatory region 4208

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

NCBI chr 1:234,554,903...234,555,197

G

Sharpr-MPRA regulatory region 10113

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

NCBI chr 1:234,712,962...234,713,256

G

Sharpr-MPRA regulatory region 12432

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

NCBI chr 1:234,728,182...234,728,476

G

Sharpr-MPRA regulatory region 4610

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

NCBI chr 1:234,849,202...234,849,496

G

Sharpr-MPRA regulatory region 11090

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

NCBI chr 1:235,820,129...235,820,423

G

P300/CBP strongly-dependent group 1 enhancer GRCh37_chr1:236162526-236163725

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

NCBI chr 1:235,999,226...236,000,425

G

MED14-independent group 3 enhancer GRCh37_chr1:233843943-233845142

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

NCBI chr 1:233,708,197...233,709,396

G

BRD4-independent group 4 enhancer GRCh37_chr1:233859728-233860927

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

NCBI chr 1:233,723,982...233,725,181

G

CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:234159353-234160552

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

NCBI chr 1:234,023,607...234,024,806

G

BRD4-independent group 4 enhancer GRCh37_chr1:234208561-234209760

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

NCBI chr 1:234,072,815...234,074,014

G

P300/CBP strongly-dependent group 1 enhancer GRCh37_chr1:234792319-234793518

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

NCBI chr 1:234,656,573...234,657,772

G

MED14-independent group 3 enhancer GRCh37_chr1:235098512-235099711

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

NCBI chr 1:234,962,765...234,963,964

G

CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:235133684-235134883

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

NCBI chr 1:234,997,937...234,999,136

G

BRD4-independent group 4 enhancer GRCh37_chr1:235323819-235325018

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

NCBI chr 1:235,160,504...235,161,703

G

MED14-independent group 3 enhancer GRCh37_chr1:235605546-235606745

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

NCBI chr 1:235,442,231...235,443,430

G

P300/CBP strongly-dependent group 1 enhancer GRCh37_chr1:235695340-235696539

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

NCBI chr 1:235,532,040...235,533,239

G

BRD4-independent group 4 enhancer GRCh37_chr1:235832683-235833882

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

NCBI chr 1:235,669,383...235,670,582

G

MED14-independent group 3 enhancer GRCh37_chr1:235871544-235872743

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

NCBI chr 1:235,708,244...235,709,443

G

BRD4-independent group 4 enhancer GRCh37_chr1:235884502-235885701

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

NCBI chr 1:235,721,202...235,722,401

G

CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:236073306-236074505

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

NCBI chr 1:235,910,006...235,911,205

G

MPRA-validated peak773 silencer

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

NCBI chr 1:235,397,860...235,398,060

G

MPRA-validated peak774 silencer

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

NCBI chr 1:235,491,368...235,491,568

G

MPRA-validated peak779 silencer

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

NCBI chr 1:235,749,975...235,750,175

G

MPRA-validated peak780 silencer

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

NCBI chr 1:235,903,115...235,903,315

G

MPRA-validated peak781 silencer

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

NCBI chr 1:235,969,035...235,969,235

G

MPRA-validated peak782 silencer

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

NCBI chr 1:235,982,075...235,982,275

G

ATAC-STARR-seq lymphoblastoid active region 2809

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

NCBI chr 1:235,972,050...235,972,099

G

ATAC-STARR-seq lymphoblastoid active region 2742

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

NCBI chr 1:233,607,450...233,607,569

G

ATAC-STARR-seq lymphoblastoid silent region 1964

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

NCBI chr 1:233,614,133...233,614,202

G

ATAC-STARR-seq lymphoblastoid silent region 1965

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

NCBI chr 1:233,614,543...233,614,602

G

ATAC-STARR-seq lymphoblastoid active region 2743

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

NCBI chr 1:233,615,073...233,615,132

G

ATAC-STARR-seq lymphoblastoid active region 2744

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

NCBI chr 1:233,628,112...233,628,161

G

ATAC-STARR-seq lymphoblastoid silent region 1966

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

NCBI chr 1:234,214,328...234,214,427

G

ATAC-STARR-seq lymphoblastoid silent region 1967

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

NCBI chr 1:234,214,528...234,214,627

G

ATAC-STARR-seq lymphoblastoid silent region 1968

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

NCBI chr 1:234,214,678...234,214,797

G

ATAC-STARR-seq lymphoblastoid active region 2745

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

NCBI chr 1:234,216,307...234,216,396

G

ATAC-STARR-seq lymphoblastoid active region 2746

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

NCBI chr 1:234,246,824...234,246,963

G

ATAC-STARR-seq lymphoblastoid active region 2747

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

NCBI chr 1:234,356,697...234,356,816

G

ATAC-STARR-seq lymphoblastoid active region 2748

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

NCBI chr 1:234,356,857...234,356,956

G

ATAC-STARR-seq lymphoblastoid active region 2749

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

NCBI chr 1:234,357,007...234,357,116

G

ATAC-STARR-seq lymphoblastoid active region 2750

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

NCBI chr 1:234,357,137...234,357,186

G

ATAC-STARR-seq lymphoblastoid silent region 1969

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

NCBI chr 1:234,433,676...234,433,745

G

ATAC-STARR-seq lymphoblastoid silent region 1970

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

NCBI chr 1:234,478,276...234,479,075

G

ATAC-STARR-seq lymphoblastoid silent region 1971

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

NCBI chr 1:234,479,106...234,479,295

G

ATAC-STARR-seq lymphoblastoid silent region 1972

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

NCBI chr 1:234,487,050...234,487,139

G

ATAC-STARR-seq lymphoblastoid active region 2752

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

NCBI chr 1:234,488,563...234,488,622

G

ATAC-STARR-seq lymphoblastoid active region 2753

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

NCBI chr 1:234,495,135...234,495,344

G

ATAC-STARR-seq lymphoblastoid active region 2754

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

NCBI chr 1:234,499,412...234,499,461

G

ATAC-STARR-seq lymphoblastoid active region 2755

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

NCBI chr 1:234,499,502...234,499,551

G

ATAC-STARR-seq lymphoblastoid active region 2756

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

NCBI chr 1:234,499,962...234,500,051

G

ATAC-STARR-seq lymphoblastoid active region 2759

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

NCBI chr 1:234,523,665...234,523,714

G

ATAC-STARR-seq lymphoblastoid silent region 1974

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

NCBI chr 1:234,600,852...234,600,901

G

ATAC-STARR-seq lymphoblastoid silent region 1975

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

NCBI chr 1:234,602,787...234,602,956

G

ATAC-STARR-seq lymphoblastoid active region 2760

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

PMID:25741868 PMID:28492532

NCBI chr 1:234,608,363...234,608,542

G

ATAC-STARR-seq lymphoblastoid silent region 1976

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

PMID:25741868 PMID:28492532

NCBI chr 1:234,608,783...234,608,902

G

ATAC-STARR-seq lymphoblastoid silent region 1977

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

PMID:24033266 PMID:25741868 PMID:28492532

NCBI chr 1:234,608,993...234,609,272

G

ATAC-STARR-seq lymphoblastoid silent region 1978

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

NCBI chr 1:234,609,513...234,609,592

G

ATAC-STARR-seq lymphoblastoid active region 2761

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

NCBI chr 1:234,610,453...234,610,552

G

ATAC-STARR-seq lymphoblastoid silent region 1981

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

NCBI chr 1:234,610,803...234,611,402

G

ATAC-STARR-seq lymphoblastoid active region 2762

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

NCBI chr 1:234,612,703...234,612,762

G

ATAC-STARR-seq lymphoblastoid active region 2763

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

NCBI chr 1:234,613,043...234,613,092

G

ATAC-STARR-seq lymphoblastoid active region 2765

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

NCBI chr 1:234,730,370...234,730,439

G

ATAC-STARR-seq lymphoblastoid active region 2768

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

NCBI chr 1:234,772,702...234,772,871

G

ATAC-STARR-seq lymphoblastoid active region 2769

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

NCBI chr 1:234,772,892...234,772,941

G

ATAC-STARR-seq lymphoblastoid active region 2770

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

NCBI chr 1:234,842,175...234,842,244

G

ATAC-STARR-seq lymphoblastoid active region 2771

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

NCBI chr 1:234,843,044...234,843,163

G

ATAC-STARR-seq lymphoblastoid active region 2772

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

NCBI chr 1:234,882,598...234,882,667

G

ATAC-STARR-seq lymphoblastoid active region 2773

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

NCBI chr 1:234,926,660...234,926,739

G

ATAC-STARR-seq lymphoblastoid active region 2774

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

NCBI chr 1:234,927,500...234,927,589

G

ATAC-STARR-seq lymphoblastoid active region 2777

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

NCBI chr 1:234,969,102...234,969,271

G

ATAC-STARR-seq lymphoblastoid active region 2778

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

NCBI chr 1:234,969,292...234,969,351

G

ATAC-STARR-seq lymphoblastoid silent region 1982

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

NCBI chr 1:234,970,201...234,970,260

G

ATAC-STARR-seq lymphoblastoid silent region 1983

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

NCBI chr 1:234,970,351...234,970,400

G

ATAC-STARR-seq lymphoblastoid active region 2779

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

NCBI chr 1:234,971,021...234,971,180

G

ATAC-STARR-seq lymphoblastoid active region 2780

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

NCBI chr 1:235,006,237...235,006,296

G

ATAC-STARR-seq lymphoblastoid active region 2784

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

NCBI chr 1:235,022,355...235,022,404

G

ATAC-STARR-seq lymphoblastoid active region 2785

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

NCBI chr 1:235,022,445...235,022,504

G

ATAC-STARR-seq lymphoblastoid active region 2786

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

NCBI chr 1:235,022,585...235,022,634

G

ATAC-STARR-seq lymphoblastoid active region 2787

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

NCBI chr 1:235,023,763...235,023,822

G

ATAC-STARR-seq lymphoblastoid active region 2788

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

NCBI chr 1:235,047,379...235,047,428