leukocyte 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:	leukocyte disease	go back to main search page
Accession:	DOID:9500	browse the term
Definition:	A hematopoietic system disease that is located_in white blood cells. (DO)
Synonyms:	exact_synonym:	leukocyte disorder; leukocyte disorders
	primary_id:	MESH:D007960
	xref:	ICD10CM:D72.9; ICD9CM:288

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Genes (1261)

leukocyte disease

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

integrin subunit beta 2

CTD Direct Evidence: marker/mechanism

PMID:2880869 PMID:9653089

NCBI chr 2:88,597,554...88,644,890
Ensembl chr 2:88,597,556...88,624,025

G

plasminogen

CTD Direct Evidence: marker/mechanism

NCBI chr13:88,266,054...88,321,596
Ensembl chr13:88,268,198...88,322,644

3-methylglutaconic aciduria type 7a

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ClpB family mitochondrial disaggregase

ClinVar Annotator: match by term: 3-METHYLGLUTACONIC ACIDURIA, TYPE VIIA | ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIA

PMID:25741868 PMID:28492532 PMID:32313153 PMID:34140661

NCBI chr 1:63,520,305...63,667,237
Ensembl chr 1:63,515,814...63,667,105

3-methylglutaconic aciduria type 7b

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

anaphase promoting complex subunit 15

ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB

NCBI chr 1:63,313,971...63,317,170
Ensembl chr 1:63,314,274...63,315,664

G

ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1

ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB

NCBI chr 1:63,923,241...63,991,221
Ensembl chr 1:63,920,076...63,960,771

G

Rho guanine nucleotide exchange factor 17

ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB

NCBI chr 1:64,553,134...64,613,573
Ensembl chr 1:64,552,842...64,616,112

G

arrestin beta 1

ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB

NCBI chr 1:66,489,358...66,580,167
Ensembl chr 1:66,490,102...66,580,154

G

autophagy related 16 like 2

ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB

NCBI chr 1:64,051,793...64,066,204
Ensembl chr 1:64,052,390...64,065,972

G

C2 domain containing 3 centriole elongation regulator

ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB

NCBI chr 1:65,282,311...65,436,007
Ensembl chr 1:65,282,318...65,435,834

G

chordin like 2

ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB

NCBI chr 1:65,939,361...65,973,987
Ensembl chr 1:65,939,446...65,973,492

G

ClpB family mitochondrial disaggregase

ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB

PMID:9536098 PMID:16199547 PMID:17576681 PMID:25595726 PMID:25597510 More...

NCBI chr 1:63,520,305...63,667,237
Ensembl chr 1:63,515,814...63,667,105

G

cytochrome c oxidase assembly factor 4 homolog, mitochondrial

ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB

NCBI chr 1:65,134,169...65,138,262
Ensembl chr 1:65,134,169...65,138,205

G

defensin beta 108B

ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB

G

7-dehydrocholesterol reductase

ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB

NCBI chr 1:3,243,263...3,257,332
Ensembl chr 1:3,243,313...3,257,487

G

DnaJ heat shock protein family (Hsp40) member B13

ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB

NCBI chr 1:65,211,142...65,233,948
Ensembl chr 1:65,217,224...65,235,556

G

family with sequence similarity 168 member A

ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB

NCBI chr 1:64,650,781...64,844,078
Ensembl chr 1:64,647,177...64,844,097

G

FCH and double SH3 domains 2

ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB

NCBI chr 1:64,073,563...64,383,695
Ensembl chr 1:64,075,109...64,383,589

G

folate receptor alpha

ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB

NCBI chr 1:63,405,513...63,413,372
Ensembl chr 1:63,406,597...63,413,352

G

folate receptor beta

ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB

NCBI chr 1:63,436,430...63,441,924
Ensembl chr 1:63,436,684...63,441,743

G

glycerophosphodiester phosphodiesterase domain containing 5

ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB

NCBI chr 1:66,665,496...66,755,712
Ensembl chr 1:66,664,914...66,755,692

G

interleukin 18 binding protein

ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB

NCBI chr 1:63,199,412...63,204,615
Ensembl chr 1:63,200,284...63,203,934

G

inositol polyphosphate phosphatase like 1

ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB

NCBI chr 1:63,443,819...63,459,067
Ensembl chr 1:63,444,713...63,459,776

G

potassium voltage-gated channel subfamily E regulatory subunit 3

ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB

NCBI chr 1:65,699,558...65,710,305
Ensembl chr 1:65,700,156...65,700,467

G

kelch like family member 35

ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB

NCBI chr 1:66,652,934...66,665,406

G

late endosomal/lysosomal adaptor, MAPK and MTOR activator 1

ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB

NCBI chr 1:63,301,354...63,307,716
Ensembl chr 1:63,301,885...63,307,553

G

lipoyl(octanoyl) transferase 2

ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB

NCBI chr 1:65,731,258...65,733,803
Ensembl chr 1:65,731,969...65,733,563

G

mitochondrial ribosomal protein L48

ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB

NCBI chr 1:65,045,885...65,124,962
Ensembl chr 1:65,046,224...65,126,253

G

NAD synthetase 1

ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB

NCBI chr 1:3,189,054...3,243,087
Ensembl chr 1:3,188,348...3,238,435

G

neuraminidase 3

ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB

NCBI chr 1:66,220,472...66,243,163

G

nuclear mitotic apparatus protein 1

ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB

NCBI chr 1:63,204,968...63,284,673
Ensembl chr 1:63,202,913...63,273,774

G

purinergic receptor P2Y2

ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB

NCBI chr 1:64,461,929...64,481,429
Ensembl chr 1:64,479,642...64,480,775

G

pyrimidinergic receptor P2Y6

ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB

NCBI chr 1:64,508,959...64,543,302
Ensembl chr 1:64,541,221...64,542,207

G

prolyl 4-hydroxylase subunit alpha 3

ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB

NCBI chr 1:65,528,378...65,566,430
Ensembl chr 1:65,528,357...65,566,358

G

proteasomal ATPase associated factor 1

ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB

NCBI chr 1:65,138,343...65,190,363
Ensembl chr 1:65,138,373...65,190,420

G

phosphodiesterase 2A

ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB

NCBI chr 1:63,812,877...63,912,602
Ensembl chr 1:63,812,840...63,880,492

G

phosphoglucomutase 2 like 1

ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB

NCBI chr 1:65,589,923...65,643,434
Ensembl chr 1:65,590,355...65,643,386

G

paired like homeobox 2A

ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB

NCBI chr 1:63,459,031...63,464,674
Ensembl chr 1:63,459,719...63,463,894

G

pleckstrin homology domain containing B1

ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB

NCBI chr 1:64,893,566...64,909,714
Ensembl chr 1:64,894,988...64,909,789

G

DNA polymerase delta 3, accessory subunit

ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB

NCBI chr 1:65,832,887...65,885,671

G

protein phosphatase methylesterase 1

ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB

NCBI chr 1:65,436,109...65,516,486
Ensembl chr 1:65,469,025...65,517,288

G

RAB6A, member RAS oncogene family

ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB

NCBI chr 1:64,923,071...65,020,279
Ensembl chr 1:64,922,496...65,020,207

G

RELT TNF receptor

ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB

NCBI chr 1:64,620,843...64,641,180
Ensembl chr 1:64,633,421...64,640,019

G

ring finger protein 121

ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB

NCBI chr 1:63,132,235...63,198,235
Ensembl chr 1:63,132,568...63,197,993

G

ring finger protein 169

ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB

NCBI chr 1:65,990,538...66,080,163

G

ribosomal protein S3

ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB

NCBI chr 1:66,629,895...66,636,462
Ensembl chr 1:66,629,954...66,635,344

G

serpin family H member 1

ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB

NCBI chr 1:66,787,978...66,798,930
Ensembl chr 1:66,788,240...66,799,072

G

solute carrier organic anion transporter family member 2B1

ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB

NCBI chr 1:66,375,924...66,430,804
Ensembl chr 1:66,376,299...66,433,055

G

signal peptidase complex subunit 2

ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB

NCBI chr 1:66,180,863...66,210,315
Ensembl chr 1:66,180,898...66,210,316

G

StAR related lipid transfer domain containing 10

ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB

NCBI chr 1:63,993,578...64,032,849
Ensembl chr 1:63,991,312...64,020,610

G

trophoblast glycoprotein like

ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB

NCBI chr 1:66,463,987...66,467,860
Ensembl chr 1:66,465,198...66,466,349

G

uncoupling protein 2

ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB

NCBI chr 1:65,238,311...65,246,841
Ensembl chr 1:65,235,775...65,246,450

G

uncoupling protein 3

ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB

NCBI chr 1:65,269,611...65,279,079
Ensembl chr 1:65,269,607...65,278,807

G

X-ray radiation resistance associated 1

ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB

NCBI chr 1:66,080,378...66,191,449
Ensembl chr 1:66,080,949...66,170,416

3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia

term browser

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Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ClpB family mitochondrial disaggregase

ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropenia

PMID:9536098 PMID:17576681 PMID:25595726 PMID:25597511 PMID:25741868 More...

NCBI chr 1:63,520,305...63,667,237
Ensembl chr 1:63,515,814...63,667,105

agranulocytosis

term browser

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Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

colony stimulating factor 2

CTD Direct Evidence: marker/mechanism

PMID:8120554 PMID:11732872

NCBI chr23:34,906,987...34,911,252
Ensembl chr23:34,908,911...34,911,140

G

colony stimulating factor 3

CTD Direct Evidence: therapeutic

NCBI chr16:66,162,814...66,166,192
Ensembl chr16:66,163,681...66,165,172

G

interleukin 1 beta

treatment

NCBI chr14:15,844,628...15,852,652
Ensembl chr14:15,844,672...15,850,729

G

N-ribosyldihydronicotinamide:quinone dehydrogenase 2

associated with schizophrenia;DNA:SNPs:exons, intron:multiple
CTD Direct Evidence: marker/mechanism

NCBI chr17:69,149,197...69,168,476
Ensembl chr17:69,147,937...69,161,045

Alpha/Beta T-Cell Lymphopenia with Gamma/Delta T-Cell Expansion, Severe Cytomegalovirus Infection, and Autoimmunity

term browser

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Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

recombination activating 1

ClinVar Annotator: match by term: Alpha/beta T-cell lymphopenia with gamma/delta T-cell expansion, severe cytomegalovirus infection, and autoimmunity

PMID:2682973 PMID:2808362 PMID:8810255 PMID:9630231 PMID:10606976 More...

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

Autoinflammation, Immune Dysregulation, and Eosinophilia

term browser

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Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

collagen type IX alpha 3 chain

Oculoskeletal dysplasia 1

PMID:830631 PMID:1525714 PMID:3204050 PMID:11024291 PMID:11814684 More...

NCBI chr 2:1,385,108...1,411,960

G

Janus kinase 1

ClinVar Annotator: match by term: Autoinflammation, immune dysregulation, and eosinophilia | ClinVar Annotator: match by term: JAK1-related condition

PMID:20167706 PMID:24728327 PMID:25352124 PMID:25741868 PMID:28111307 More...

NCBI chr20:68,122,134...68,253,361
Ensembl chr20:68,122,173...68,252,042

autosomal recessive chronic granulomatous disease 1

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

neutrophil cytosolic factor 1

ClinVar Annotator: match by term: Chronic granulomatous disease 1, autosomal recessive | ClinVar Annotator: match by term: GRANULOMATOUS DISEASE, CHRONIC, DUE TO NCF1 DEFICIENCY

PMID:742630 PMID:7678602 PMID:11133775 PMID:11433300 PMID:11920901 More...

NCBI chr28:8,334,172...8,349,828
Ensembl chr28:8,332,772...8,349,804

autosomal recessive chronic granulomatous disease 2

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

acyl-CoA binding domain containing 6

ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2

NCBI chr25:48,884,818...49,089,557
Ensembl chr25:48,885,434...49,090,615

G

axonemal dynein light chain domain containing 1

ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2

NCBI chr25:49,807,102...49,988,152

G

calcium voltage-gated channel subunit alpha1 E

ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2

NCBI chr25:47,589,859...47,924,081
Ensembl chr25:47,597,808...47,922,969

G

centrosomal protein 350

ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2

NCBI chr25:49,262,577...49,421,013
Ensembl chr25:49,266,261...49,420,348

G

DExH-box helicase 9

ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2

NCBI chr25:46,485,602...46,534,046
Ensembl chr25:46,485,427...46,518,406

G

family with sequence similarity 163 member A

ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2

NCBI chr25:49,557,621...49,638,984
Ensembl chr25:49,557,548...49,558,635

G

glutamate-ammonia ligase

ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2

NCBI chr25:46,988,853...46,998,112
Ensembl chr25:46,989,205...47,000,555

G

immediate early response 5

ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2

NCBI chr25:48,314,925...48,317,249
Ensembl chr25:48,315,871...48,316,854

G

KIAA1614 ortholog

ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2

NCBI chr25:48,456,242...48,490,005
Ensembl chr25:48,457,523...48,489,689

G

laminin subunit gamma 1

ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2

NCBI chr25:46,233,409...46,354,060
Ensembl chr25:46,231,780...46,353,557

G

laminin subunit gamma 2

ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2

NCBI chr25:46,133,079...46,199,960
Ensembl chr25:46,131,827...46,199,753

G

LIM homeobox 4

ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2

NCBI chr25:49,102,819...49,148,193
Ensembl chr25:49,103,349...49,147,752

G

torsin-1A-interacting protein 2

ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2

NCBI chr25:49,496,515...49,532,881
Ensembl chr25:49,509,484...49,530,723

G

neutrophil cytosolic factor 2

ClinVar Annotator: match by term: GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 2 | ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2

PMID:7795241 PMID:8781442 PMID:8879195 PMID:9536098 PMID:10498624 More...

NCBI chr25:45,770,370...45,807,064
Ensembl chr25:45,770,641...45,806,515

G

nicotinamide nucleotide adenylyltransferase 2

ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2

NCBI chr25:45,954,934...46,130,106
Ensembl chr25:45,954,862...46,125,378

G

NPHS2 stomatin family member, podocin

ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2

NCBI chr25:49,786,126...49,804,917

G

N-acetylneuraminate pyruvate lyase

ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2

NCBI chr25:46,543,645...46,582,700
Ensembl chr25:46,541,401...46,581,767

G

quiescin sulfhydryl oxidase 1

ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2

NCBI chr25:49,180,365...49,223,814
Ensembl chr25:49,181,365...49,223,741

G

regulator of G protein signaling 16

ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2

NCBI chr25:46,764,097...46,769,895
Ensembl chr25:46,764,134...46,769,896

G

regulator of G protein signaling 8

ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2

NCBI chr25:46,683,978...46,724,205
Ensembl chr25:46,683,783...46,726,543

G

regulator of G protein signaling like 1

ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2

NCBI chr25:46,813,422...46,921,057
Ensembl chr25:46,819,410...46,915,475

G

ribonuclease L

ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2

NCBI chr25:46,779,221...46,795,854
Ensembl chr25:46,779,700...46,795,842

G

SHC binding and spindle associated 1 like

ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2

NCBI chr25:46,424,943...46,473,336
Ensembl chr25:46,426,312...46,473,218

G

SMG7 nonsense mediated mRNA decay factor

ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2

NCBI chr25:45,808,384...45,895,605
Ensembl chr25:45,805,689...45,866,852

G

syntaxin 6

ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2

NCBI chr25:48,380,359...48,427,279
Ensembl chr25:48,397,712...48,426,676

G

tudor domain containing 5

ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2

NCBI chr25:49,676,952...49,771,381
Ensembl chr25:49,677,283...49,769,442

G

torsin 1A interacting protein 1

ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2

NCBI chr25:49,454,642...49,492,903
Ensembl chr25:49,452,289...49,491,525

G

xenotropic and polytropic retrovirus receptor 1

ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2

NCBI chr25:48,509,854...48,756,479
Ensembl chr25:48,517,525...48,756,458

G

zinc finger protein 648

ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2

NCBI chr25:47,333,684...47,340,681
Ensembl chr25:47,338,005...47,339,702

autosomal recessive chronic granulomatous disease 3

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ciliary microtubule inner protein 4

ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type III

NCBI chr19:19,693,013...19,714,116
Ensembl chr19:19,693,067...19,705,317

G

colony stimulating factor 2 receptor subunit beta

ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type III

NCBI chr19:19,614,719...19,642,546
Ensembl chr19:19,624,234...19,640,617

G

neutrophil cytosolic factor 4

ClinVar Annotator: match by term: CGD, AUTOSOMAL RECESSIVE CYTOCHROME b-POSITIVE, TYPE III | ClinVar Annotator: match by term: GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 3 | ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type III

PMID:9536098 PMID:16199547 PMID:16880254 PMID:17576681 PMID:19692703 More...

NCBI chr19:19,560,047...19,579,342
Ensembl chr19:19,566,562...19,579,352

G

thiosulfate sulfurtransferase

ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type III

NCBI chr19:19,716,295...19,724,712
Ensembl chr19:19,716,180...19,724,589

autosomal recessive chronic granulomatous disease 4

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

acyl-CoA synthetase family member 3

ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative

PMID:10910929 PMID:20167518 PMID:22876374 PMID:28492532

NCBI chr 5:74,464,357...74,526,173
Ensembl chr 5:74,464,651...74,525,660

G

ankyrin repeat domain containing 11

ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative

NCBI chr 5:74,630,108...74,682,232
Ensembl chr 5:74,628,310...74,682,232

G

adenine phosphoribosyltransferase

ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative

PMID:10910929 PMID:20167518 PMID:22876374 PMID:28492532

NCBI chr 5:74,196,858...74,199,789
Ensembl chr 5:74,194,013...74,199,891

G

BTG3 associated nuclear protein

ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative

NCBI chr 5:73,341,241...73,466,636
Ensembl chr 5:73,341,729...73,466,949

G

carbonic anhydrase 5A

ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative

NCBI chr 5:73,284,536...73,333,629

G

CBFA2/RUNX1 partner transcriptional co-repressor 3

ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative

PMID:10910929 PMID:20167518 PMID:22876374 PMID:28492532

NCBI chr 5:74,260,516...74,361,268
Ensembl chr 5:74,263,375...74,289,875

G

cadherin 15

ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative

NCBI chr 5:74,542,174...74,563,753
Ensembl chr 5:74,550,637...74,563,850

G

cyclin dependent kinase 10

ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative

NCBI chr 5:75,002,284...75,034,555
Ensembl chr 5:75,024,205...75,033,428

G

chromatin licensing and DNA replication factor 1

ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative

PMID:10910929 PMID:20167518 PMID:22876374 PMID:28492532

NCBI chr 5:74,190,409...74,196,589
Ensembl chr 5:74,190,947...74,195,972

G

Putative CENPB DNA-binding domain-containing protein 1

ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative

NCBI chr 5:75,297,171...75,297,822

G

charged multivesicular body protein 1A

ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative

NCBI chr 5:74,990,706...75,002,074
Ensembl chr 5:74,990,410...75,001,988

G

copine 7

ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative

NCBI chr 5:74,937,985...74,953,406

G

cytosolic thiouridylase subunit 2

ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative

PMID:10910929 PMID:20167518 PMID:22876374 PMID:28492532

NCBI chr 5:74,091,156...74,100,941
Ensembl chr 5:74,091,258...74,100,573

G

dysbindin domain containing 1

ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative

NCBI chr 5:75,327,897...75,341,271

G

differentially expressed in FDCP 8 homolog

ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative

NCBI chr 5:75,274,379...75,294,458
Ensembl chr 5:75,275,190...75,295,178

G

dipeptidase 1

ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative

G

FA complementation group A

ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative

NCBI chr 5:75,073,161...75,149,110
Ensembl chr 5:75,073,358...75,148,591

G

growth arrest specific 8

ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative

NCBI chr 5:75,353,493...75,370,012
Ensembl chr 5:75,354,117...75,371,796

G

interleukin 17C

ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative

NCBI chr 5:74,019,253...74,021,530
Ensembl chr 5:74,019,253...74,020,344

G

junctophilin 3

ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative

NCBI chr 5:72,972,373...73,095,710
Ensembl chr 5:72,972,361...73,094,231

G

kelch domain containing 4

ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative

NCBI chr 5:73,104,421...73,160,058
Ensembl chr 5:73,104,980...73,160,041

G

cytochrome b-245 light chain

ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative

PMID:1415254 PMID:1763037 PMID:2243141 PMID:3368442 PMID:3571224 More...

NCBI chr 5:74,023,134...74,030,793
Ensembl chr 5:74,023,082...74,030,750

G

trafficking protein particle complex subunit 2-like protein

ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative

PMID:10910929 PMID:20167518 PMID:22876374 PMID:28492532

NCBI chr 5:74,243,395...74,248,579
Ensembl chr 5:74,243,405...74,247,598

G

N-acetylgalactosamine-6-sulfatase

ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative

PMID:10910929 PMID:20167518 PMID:22876374 PMID:28492532

NCBI chr 5:74,201,468...74,243,478

G

mevalonate diphosphate decarboxylase

ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative

PMID:10910929 PMID:20167518 PMID:22876374 PMID:23910690 PMID:25741868 More...

NCBI chr 5:74,031,470...74,049,066
Ensembl chr 5:74,031,316...74,049,011

G

PABPN1 like, cytoplasmic

ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative

PMID:10910929 PMID:20167518 PMID:22876374 PMID:28492532

NCBI chr 5:74,251,084...74,256,543
Ensembl chr 5:74,252,703...74,255,857

G

piezo type mechanosensitive ion channel component 1 (Er blood group)

ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative

PMID:10910929 PMID:20167518 PMID:22876374 PMID:28492532

NCBI chr 5:74,100,675...74,167,194
Ensembl chr 5:74,100,929...74,134,167

G

ring finger protein 166

ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative

PMID:10910929 PMID:20167518 PMID:22876374 PMID:28492532

NCBI chr 5:74,080,605...74,091,114
Ensembl chr 5:74,081,203...74,091,018

G

ribosomal protein L13

ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative

NCBI chr 5:74,918,926...74,921,402

G

solute carrier family 22 member 31

ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative

NCBI chr 5:74,564,030...74,569,826

G

solute carrier family 7 member 5

ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative

NCBI chr 5:73,229,953...73,269,801
Ensembl chr 5:73,229,951...73,269,754

G

snail family transcriptional repressor 3

ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative

PMID:10910929 PMID:20167518 PMID:22876374 PMID:28492532

NCBI chr 5:74,062,241...74,071,840

G

spermatogenesis associated 2 like

ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative

NCBI chr 5:75,034,558...75,039,867
Ensembl chr 5:75,031,141...75,039,416

G

spermatogenesis associated 33

ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative

NCBI chr 5:75,002,037...75,011,305
Ensembl chr 5:75,002,359...75,013,583

G

spire type actin nucleation factor 2

ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative

NCBI chr 5:75,160,728...75,200,417
Ensembl chr 5:75,177,082...75,201,581

G

transcription factor 25

ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative

NCBI chr 5:75,205,506...75,235,290
Ensembl chr 5:75,205,504...75,235,777

G

VPS9 domain containing 1

ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative

NCBI chr 5:75,044,282...75,057,744
Ensembl chr 5:75,044,790...75,057,135

G

zinc finger CCCH-type containing 18

ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative

NCBI chr 5:73,944,502...74,010,379
Ensembl chr 5:73,944,574...74,009,714

G

zinc finger protein, FOG family member 1

ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative

NCBI chr 5:73,832,527...73,909,231
Ensembl chr 5:73,864,461...73,909,049

G

zinc finger protein 276

ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative

NCBI chr 5:75,057,541...75,073,328
Ensembl chr 5:75,057,253...75,073,023

G

zinc finger protein 469

ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative

NCBI chr 5:73,762,456...73,820,262

G

zinc finger protein 778

ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative

NCBI chr 5:74,583,488...74,595,533
Ensembl chr 5:74,589,788...74,595,135

autosomal recessive chronic granulomatous disease 5

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

cytochrome b-245 chaperone 1

ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, 5

PMID:9536098 PMID:17576681 PMID:28492532 PMID:28600779 PMID:30312704 More...

NCBI chr16:74,361,248...74,367,686
Ensembl chr16:74,359,591...74,367,626

B-Cell Chronic Lymphocytic Leukemia

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ATP binding cassette subfamily G member 2 (JR blood group)

susceptibility

DNA:SNPs,haplotype: :rs1481012,rs2231142(human)

NCBI chr 7:36,458,110...36,599,753

G

acyl-CoA oxidase like

CTD Direct Evidence: marker/mechanism

NCBI chr14:13,768,917...14,176,639

G

activation induced cytidine deaminase

disease_progression

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

G

apolipoprotein E

disease_progression

NCBI chr 6:38,377,154...38,381,219
Ensembl chr 6:38,376,887...38,381,438

G

ATM serine/threonine kinase

CTD Direct Evidence: marker/mechanism

NCBI chr 1:99,653,208...99,786,889
Ensembl chr 1:99,653,139...99,791,520

G

BCL11 transcription factor A

DNA:translocation:5' utr: (human)

NCBI chr14:46,453,102...46,553,802

G

BCL2 apoptosis regulator

severity
no_association
treatment

CTD Direct Evidence: marker/mechanism
DNA:snp:promoter:g.-938C>A (human)
protein:increased expression:B cell (human)

PMID:16960146 PMID:17296974 PMID:17959858 PMID:20001236 PMID:21750559 More...

RGD:11522735 RGD:11526104 RGD:11526105 RGD:11526110

NCBI chr18:16,440,560...16,643,187
Ensembl chr18:16,441,733...16,637,895

G

Bcl2 modifying factor

CTD Direct Evidence: marker/mechanism

NCBI chr26:42,893,997...42,915,062
Ensembl chr26:42,894,460...42,915,062

G

B-Raf proto-oncogene, serine/threonine kinase

ClinVar Annotator: match by term: B-cell chronic lymphocytic leukemia | ClinVar Annotator: match by term: Leukemia, B-cell, chronic

PMID:12068308 PMID:12198537 PMID:12692057 PMID:12960123 PMID:14612909 More...

NCBI chr21:109,495,525...109,690,261

G

Bruton tyrosine kinase

treatment

ClinVar Annotator: match by term: B-cell chronic lymphocytic leukemia

PMID:23045577 PMID:24869598 PMID:25741868 PMID:28492532

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

G

Cbl proto-oncogene

severity

DNA:hypophosphorylation:CD5+ B cell:
mRNA,protein:increased expression:CD5+ B cell:

NCBI chr 1:110,581,049...110,679,284
Ensembl chr 1:110,581,143...110,674,481

G

coiled-coil domain containing 50

NCBI chr15:85,493,894...85,563,412
Ensembl chr15:85,494,157...85,556,827

G

CD40 molecule

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

G

CD40 ligand

mouse-human chimeric gene in human

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

G

CD5 molecule

CTD Direct Evidence: marker/mechanism

NCBI chr 1:12,720,004...12,747,637
Ensembl chr 1:12,719,333...12,746,960

G

CD79b molecule

protein:decreased expression:B lymphocyte, cell surface (human)
mRNA, protein:splice variants, alternative forms:exon 3 (human)
DNA:polymorphism:multiple (human)

PMID:9269755 PMID:10090943 PMID:10552962

RGD:11250403 RGD:151665190 RGD:151665202

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

G

CD86 molecule

severity

protein:increased expression:peripheral blood mononuclear cell (human)

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

G

cytoplasmic polyadenylation element binding protein 1

CTD Direct Evidence: marker/mechanism

NCBI chr29:3,005,891...3,106,732
Ensembl chr29:3,006,532...3,106,793

G

cytotoxic T-lymphocyte associated protein 4

protein:increased expression:T cell

PMID:15914560 PMID:16094420

RGD:11344923 RGD:11352246

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

G

chromosome unknown C11orf21 homolog

CTD Direct Evidence: marker/mechanism

NCBI chr 1:2,106,099...2,110,188

G

dyskerin pseudouridine synthase 1

NCBI chr X:129,015,883...129,029,741
Ensembl chr X:129,016,046...129,030,001

G

DNA methyltransferase 3 beta

mRNA:decreased expression: B cell

NCBI chr 2:37,128,635...37,176,033
Ensembl chr 2:37,146,538...37,174,570

G

ERCC excision repair 2, TFIIH core complex helicase subunit

severity

DNA:SNP: :p.K751Q (rs13181) (human)

PMID:19484764 PMID:22739018

RGD:11252203 RGD:11252204

NCBI chr 6:38,804,296...38,823,229
Ensembl chr 6:38,801,423...38,823,073

G

FERM, ARH/RhoGEF and pleckstrin domain protein 2

CTD Direct Evidence: marker/mechanism

NCBI chr10:127,422,843...127,570,848
Ensembl chr10:127,422,870...127,573,801

G

F-box and WD repeat domain containing 7

ClinVar Annotator: match by term: Leukemia, B-cell, chronic

PMID:25741868 PMID:26619011

NCBI chr 7:98,894,261...99,105,955
Ensembl chr 7:98,892,504...99,106,084

G

Fc fragment of IgG receptor IIIa

no_association

DNA:SNP:exon:p.F158V (rs396991) (human)

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

G

HRas proto-oncogene, GTPase

ClinVar Annotator: match by term: Leukemia, B-cell, chronic

PMID:12835555 PMID:16329078 PMID:16372351 PMID:16835863 PMID:17211612 More...

NCBI chr 1:343,613...345,782
Ensembl chr 1:343,506...346,637

G

intercellular adhesion molecule 1

severity

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

G

interferon gamma

susceptibility

DNA:polymorphism: :847A>T(human)

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

G

interleukin 10

no_association
disease_progression

DNA:SNPs: :multiple
DNA:SNPs: :rs1800890, rs4072227, rs17015865 (human)
protein:increased expression:serum

PMID:10638947 PMID:19573080 PMID:22945689

RGD:11041895 RGD:11049165 RGD:11049174

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

G

interleukin 19

CTD Direct Evidence: marker/mechanism

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

G

interleukin 1 alpha

NCBI chr14:15,789,710...15,801,938
Ensembl chr14:15,789,013...15,796,611

G

interleukin 1 beta

severity

DNA:SNP:promoter:-511C>T (human)
protein:decreased expression:plasma:

PMID:10870116 PMID:18271063

RGD:11051967 RGD:11522755

NCBI chr14:15,844,628...15,852,652
Ensembl chr14:15,844,672...15,850,729

G

interleukin 1 receptor antagonist

protein:decreased expression:plasma:

NCBI chr14:16,136,667...16,152,451
Ensembl chr14:16,146,333...16,151,326

G

interleukin 6

CTD Direct Evidence: marker/mechanism
protein:increased expression:plasma:

PMID:10870116 PMID:18006695

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

G

interferon regulatory factor 4

disease_progression

CTD Direct Evidence: marker/mechanism

PMID:12079517 PMID:12393648 PMID:18758461

RGD:11526160 RGD:11530024

NCBI chr17:71,739,920...71,758,811

G

integrin subunit alpha 4

CTD Direct Evidence: marker/mechanism

NCBI chr10:66,984,687...67,063,158
Ensembl chr10:66,984,887...67,061,636

G

KRAS proto-oncogene, GTPase

ClinVar Annotator: match by term: Leukemia, B-cell, chronic

PMID:2278970 PMID:3122217 PMID:12460918 PMID:15696205 PMID:16361624 More...

NCBI chr11:24,963,396...25,010,747
Ensembl chr11:24,973,619...25,005,191

G

lymphoid enhancer binding factor 1

CTD Direct Evidence: marker/mechanism

NCBI chr 7:55,974,770...56,096,214
Ensembl chr 7:55,990,621...56,094,110

G

leukocyte immunoglobulin like receptor A4

CTD Direct Evidence: marker/mechanism

NCBI chr 6:47,023,469...47,038,665
Ensembl chr 6:47,023,620...47,037,336

G

nuclear body protein SP140

CTD Direct Evidence: marker/mechanism

NCBI chr10:116,260,787...116,359,406
Ensembl chr10:116,262,327...116,349,173

G

TNF superfamily member 13

protein:increased expression:serum

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

G

neuroendocrine secretory protein 55

disease_progression

DNA:polymorphism:393T>C (human)

NCBI chr 2:5,233,893...5,303,433
Ensembl chr 2:5,233,874...5,249,192

G

leucine rich repeat containing 56

ClinVar Annotator: match by term: Leukemia, B-cell, chronic

PMID:12835555 PMID:16329078 PMID:16372351 PMID:16835863 PMID:17211612 More...

NCBI chr 1:352,131...370,276
Ensembl chr 1:355,982...369,633

G

membrane spanning 4-domains A1

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

G

methylenetetrahydrofolate reductase

CTD Direct Evidence: marker/mechanism

NCBI chr20:119,987,667...120,003,611
Ensembl chr20:119,990,133...120,002,950

G

MYD88 innate immune signal transduction adaptor

ClinVar Annotator: match by term: Leukemia, B-cell, chronic

PMID:21179087 PMID:22931316 PMID:23215570 PMID:23355535 PMID:26619011 More...

NCBI chr15:1,276,804...1,281,811
Ensembl chr15:1,276,798...1,281,166

G

NRAS proto-oncogene, GTPase

ClinVar Annotator: match by term: Leukemia, B-cell, chronic

PMID:1654209 PMID:2278970 PMID:2674680 PMID:3122217 PMID:6587382 More...

NCBI chr20:18,953,273...18,966,002
Ensembl chr20:18,953,883...18,961,931

G

purinergic receptor P2X 7

CTD Direct Evidence: marker/mechanism

NCBI chr11:116,505,975...116,560,151
Ensembl chr11:116,529,346...116,563,059

G

platelet and endothelial cell adhesion molecule 1

severity

protein:increased expression:B cell (human)

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

G

phospholipase C gamma 2

ClinVar Annotator: match by term: B-cell chronic lymphocytic leukemia

PMID:24869598 PMID:28492532

NCBI chr 5:67,209,268...67,394,865
Ensembl chr 5:67,215,459...67,398,990

G

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

CTD Direct Evidence: marker/mechanism

NCBI chr18:19,861,182...19,865,628
Ensembl chr18:19,862,743...19,865,250

G

DNA polymerase beta

CTD Direct Evidence: marker/mechanism

NCBI chr 8:40,332,165...40,368,065
Ensembl chr 8:40,332,208...40,372,582

G

protein phosphatase 2 regulatory subunit B'gamma

CTD Direct Evidence: marker/mechanism

NCBI chr24:79,703,316...79,875,379
Ensembl chr24:79,703,312...79,875,389

G

protein kinase D2

CTD Direct Evidence: marker/mechanism

NCBI chr 6:40,028,214...40,071,523
Ensembl chr 6:40,027,552...40,071,455

G

prostaglandin-endoperoxide synthase 2

CTD Direct Evidence: marker/mechanism

NCBI chr25:42,733,535...42,742,463
Ensembl chr25:42,734,771...42,742,429

G

protein tyrosine phosphatase non-receptor type 11

ClinVar Annotator: match by term: B-cell chronic lymphocytic leukemia | ClinVar Annotator: match by term: Leukemia, B-cell, chronic

PMID:12161469 PMID:12717436 PMID:14644997 PMID:14982869 PMID:15385933 More...

NCBI chr11:107,658,495...107,754,457
Ensembl chr11:107,658,453...107,752,637

G

glutaminyl-peptide cyclotransferase

CTD Direct Evidence: marker/mechanism

NCBI chr14:70,015,260...70,044,033
Ensembl chr14:70,015,261...70,043,941

G

RB transcriptional corepressor like 2

CTD Direct Evidence: marker/mechanism

NCBI chr 5:39,225,797...39,283,550
Ensembl chr 5:39,225,844...39,282,190

G

splicing factor 3b subunit 1

ClinVar Annotator: match by term: B-cell chronic lymphocytic leukemia | ClinVar Annotator: match by term: Leukemia, B-cell, chronic

PMID:23634996 PMID:25741868 PMID:26619011

NCBI chr10:82,901,908...82,952,094
Ensembl chr10:82,899,079...82,952,071

G

splicing factor 3b subunit 2

ClinVar Annotator: match by term: B-cell chronic lymphocytic leukemia | ClinVar Annotator: match by term: Leukemia, B-cell, chronic

NCBI chr 1:8,189,636...8,207,024
Ensembl chr 1:8,189,446...8,207,020

G

telomerase reverse transcriptase

disease_progression

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

G

transferrin receptor

CTD Direct Evidence: marker/mechanism

NCBI chr15:91,102,153...91,134,994
Ensembl chr15:91,102,817...91,135,584

G

thrombomodulin

NCBI chr 2:52,041,950...52,045,946
Ensembl chr 2:52,043,746...52,045,626

G

tumor necrosis factor

disease_progression

protein:increased expression:bone marrow, blood, lymphocyte

PMID:12010662 PMID:22945689

RGD:10449463 RGD:11041895

G

TNF receptor superfamily member 10a

susceptibility

DNA:missense mutation:cds:p.E228A (c.683A>C) (human)
DNA:SNP: :1322A>G (human)

PMID:15531454 PMID:16217763

RGD:11038717 RGD:11038718

NCBI chr 8:21,318,987...21,351,641
Ensembl chr 8:21,315,149...21,351,673

G

TNF receptor superfamily member 11a

CTD Direct Evidence: marker/mechanism

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

G

TNF superfamily member 11

CTD Direct Evidence: marker/mechanism

NCBI chr 3:20,717,884...20,761,520
Ensembl chr 3:20,727,592...20,760,408

G

TNF superfamily member 8

CTD Direct Evidence: marker/mechanism

NCBI chr12:24,646,797...24,684,341
Ensembl chr12:24,647,412...24,678,466

G

DNA topoisomerase II binding protein 1

CTD Direct Evidence: marker/mechanism

NCBI chr15:56,679,333...56,740,773
Ensembl chr15:56,679,426...56,741,566

G

tumor protein p53

disease_progression

DNA:deletion: :
ClinVar Annotator: match by term: B-cell chronic lymphocytic leukemia | ClinVar Annotator: match by term: Leukemia, B-cell, chronic

PMID:253702 PMID:1565143 PMID:1565144 PMID:1631137 PMID:1679237 More...

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

G

vitamin D receptor

CTD Direct Evidence: marker/mechanism

NCBI chr11:44,062,198...44,126,295
Ensembl chr11:44,065,457...44,166,684

G

exportin 1

ClinVar Annotator: match by term: Leukemia, B-cell, chronic

NCBI chr14:45,428,279...45,487,965
Ensembl chr14:45,432,619...45,488,723

G

X-ray repair cross complementing 1

no_association
severity

DNA:SNP: :p.R194W (rs1799782), p.R280H (25489) (human)
DNA:SNP: :p.R399Q (rs25487) (human)

NCBI chr 6:37,062,149...37,095,138
Ensembl chr 6:37,060,439...37,095,094

B-CELL EXPANSION WITH NFKB AND T-CELL ANERGY

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

caspase recruitment domain family member 11

ClinVar Annotator: match by term: B-cell expansion with NFKB and T-cell anergy

PMID:9536098 PMID:17576681 PMID:18323416 PMID:23027925 PMID:23129749 More...

B-cell lymphoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ATP binding cassette subfamily G member 2 (JR blood group)

susceptibility

DNA:SNP: :rs6857600(human)

NCBI chr 7:36,458,110...36,599,753

G

activation induced cytidine deaminase

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

G

BCL6 transcription repressor

diffuse large B-cell lymphoma DNA:translocation:promoter,CDS:t(3;16)(q27;p11) results in IL21R promoter fused to BCL6 coding region

NCBI chr15:81,997,659...82,022,059
Ensembl chr15:81,998,545...82,009,946

G

bromodomain containing 2

NCBI chr17:39,113,519...39,126,267

G

Bruton tyrosine kinase

treatment

human cell in a mouse model

PMID:25662332 PMID:28348046

RGD:11040764 RGD:124713554

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

G

chromobox 7

NCBI chr19:21,776,618...21,798,525
Ensembl chr19:21,775,931...21,798,309

G

CD40 molecule

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

G

colony stimulating factor 2

treatment

NCBI chr23:34,906,987...34,911,252
Ensembl chr23:34,908,911...34,911,140

G

colony stimulating factor 3

CTD Direct Evidence: therapeutic

NCBI chr16:66,162,814...66,166,192
Ensembl chr16:66,163,681...66,165,172

G

ELL associated factor 2

CTD Direct Evidence: marker/mechanism

NCBI chr22:58,966,640...59,025,158
Ensembl chr22:58,974,409...59,025,143

G

enhancer of zeste 2 polycomb repressive complex 2 subunit

treatment
severity

PMID:23982173 PMID:29456795

RGD:10755356 RGD:126781726

NCBI chr21:117,380,518...117,515,224
Ensembl chr21:117,380,361...117,421,573

G

interleukin 21 receptor

diffuse large B-cell lymphoma DNA:translocation:promoter,CDS:t(3;16)(q27;p11) results in IL21R promoter fused to BCL6 coding region

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

G

Janus kinase 3

CTD Direct Evidence: marker/mechanism

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

G

lysine acetyltransferase 5

severity

NCBI chr 1:8,528,097...8,544,512
Ensembl chr 1:8,526,788...8,544,972

G

galectin 1

protein:increased expression:primary tumor (rat)

NCBI chr19:20,379,144...20,383,303
Ensembl chr19:20,379,003...20,383,464

G

NRAS proto-oncogene, GTPase

CTD Direct Evidence: marker/mechanism

NCBI chr20:18,953,273...18,966,002
Ensembl chr20:18,953,883...18,961,931

G

prostaglandin-endoperoxide synthase 2

CTD Direct Evidence: marker/mechanism

NCBI chr25:42,733,535...42,742,463
Ensembl chr25:42,734,771...42,742,429

G

protein tyrosine phosphatase non-receptor type 1

CTD Direct Evidence: marker/mechanism

NCBI chr 2:13,385,681...13,459,180
Ensembl chr 2:13,387,727...13,459,105

G

signal transducer and activator of transcription 5A

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

G

TNF superfamily member 8

CTD Direct Evidence: marker/mechanism

NCBI chr12:24,646,797...24,684,341
Ensembl chr12:24,647,412...24,678,466

G

TNF superfamily member 9

NCBI chr 6:6,131,157...6,136,345
Ensembl chr 6:6,131,571...6,135,463

B-lymphoblastic leukemia/lymphoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ABL proto-oncogene 1, non-receptor tyrosine kinase

treatment

NCBI chr12:7,258,932...7,435,658
Ensembl chr12:7,256,648...7,312,734

G

aryl hydrocarbon receptor

CTD Direct Evidence: marker/mechanism

NCBI chr21:40,778,198...40,826,491
Ensembl chr21:40,778,218...40,826,478

G

activating transcription factor 7 interacting protein

CTD Direct Evidence: marker/mechanism

NCBI chr11:14,264,795...14,397,062
Ensembl chr11:14,264,706...14,392,206

G

BCL2 like 1

severity

NCBI chr 2:36,059,024...36,118,332
Ensembl chr 2:36,058,919...36,116,470

G

BCR activator of RhoGEF and GTPase

BCR/ABL fusion

NCBI chr19:2,569,841...2,703,703
Ensembl chr19:2,566,190...2,702,920

G

bromodomain containing 2

NCBI chr17:39,113,519...39,126,267

G

cellular communication network factor 2

CTD Direct Evidence: marker/mechanism

NCBI chr13:41,613,838...41,617,010
Ensembl chr13:41,613,798...41,617,651

G

cyclin D1

mRNA:increased expression:B cell (mouse)

NCBI chr 1:4,909,616...4,922,272
Ensembl chr 1:4,907,353...4,922,357

G

cytochrome P450 family 3 subfamily A member 5

treatment

DNA:polymorphisms: :

NCBI chr28:13,473,649...13,517,905
Ensembl chr28:13,491,483...13,519,507

G

double homeobox 4

CTD Direct Evidence: marker/mechanism

G

ETS variant transcription factor 6

CTD Direct Evidence: marker/mechanism

PMID:15217836 PMID:24413735 PMID:25807284

NCBI chr11:11,567,522...11,812,292
Ensembl chr11:11,567,632...11,811,716

G

coagulation factor XIII A chain

protein:increased expression:B lymphoblast:

NCBI chr17:65,885,498...66,040,026
Ensembl chr17:65,885,658...66,040,040

G

coagulation factor III, tissue factor

treatment

NCBI chr20:38,726,690...38,738,457
Ensembl chr20:38,726,798...38,739,408

G

fumarate hydratase

ClinVar Annotator: match by term: B Lymphoblastic Leukemia/Lymphoma, Not Otherwise Specified

PMID:25741868 PMID:28492532

NCBI chr25:78,576,931...78,599,998
Ensembl chr25:78,575,300...78,599,972

G

fms related receptor tyrosine kinase 3

mRNA,protein:increased expression:bone marrow:

NCBI chr 3:7,117,579...7,222,600
Ensembl chr 3:7,116,947...7,222,849

G

GATA binding protein 3

CTD Direct Evidence: marker/mechanism

NCBI chr 9:8,101,404...8,122,762
Ensembl chr 9:8,101,432...8,123,064

G

indoleamine 2,3-dioxygenase 1

CTD Direct Evidence: marker/mechanism

NCBI chr 8:37,930,910...37,950,790
Ensembl chr 8:37,930,562...37,946,505

G

IKAROS family zinc finger 1

disease_progression

CTD Direct Evidence: marker/mechanism
DNA:mutations: :

PMID:22699455 PMID:24141364

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

G

interleukin 5

NCBI chr23:35,360,143...35,375,169
Ensembl chr23:35,360,506...35,362,178

G

interferon regulatory factor 4

PMID:20585039 PMID:21818355 PMID:25006123

RGD:11526159 RGD:11530020 RGD:11530030

NCBI chr17:71,739,920...71,758,811

G

interferon regulatory factor 8

NCBI chr 5:71,301,878...71,325,622
Ensembl chr 5:71,302,233...71,325,613

G

intestine specific homeobox

CTD Direct Evidence: marker/mechanism

NCBI chr19:17,827,274...17,850,296
Ensembl chr19:17,828,177...17,852,069

G

TNF superfamily member 13

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

G

cytokine receptor like factor 2

CTD Direct Evidence: marker/mechanism

G

MAX dimerization protein MGA

CTD Direct Evidence: marker/mechanism

NCBI chr26:41,215,424...41,381,828
Ensembl chr26:41,218,082...41,311,526

G

MYB proto-oncogene, transcription factor

disease_progression

mRNA:splice variants:cds:

NCBI chr13:38,203,923...38,242,148
Ensembl chr13:38,203,731...38,241,864

G

MYC proto-oncogene, bHLH transcription factor

NCBI chr 8:122,282,989...122,288,392
Ensembl chr 8:122,282,630...122,288,384

G

paired box 5

CTD Direct Evidence: marker/mechanism

PMID:24013638 PMID:30643249

NCBI chr12:43,547,399...43,748,202
Ensembl chr12:43,548,914...43,740,962

G

platelet derived growth factor receptor alpha

treatment

NCBI chr 7:14,243,291...14,307,373
Ensembl chr 7:14,241,070...14,307,422

G

RB transcriptional corepressor 1

ClinVar Annotator: match by term: B Lymphoblastic Leukemia/Lymphoma, Not Otherwise Specified

PMID:25741868 PMID:28492532

NCBI chr 3:26,220,783...26,393,671
Ensembl chr 3:26,220,803...26,394,546

G

RUNX family transcription factor 1

onset

DNA:amplification

NCBI chr 2:78,819,189...79,082,491
Ensembl chr 2:78,819,194...78,924,495

G

signal transducer and activator of transcription 3

CTD Direct Evidence: marker/mechanism

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

G

signal transducer and activator of transcription 5A

protein:increased phosphorylation:bone marrow (human)

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

G

serine/threonine kinase 11

ClinVar Annotator: match by term: B Lymphoblastic Leukemia/Lymphoma, Not Otherwise Specified

PMID:25741868 PMID:26080840 PMID:26295973 PMID:28492532

NCBI chr 6:973,033...996,857
Ensembl chr 6:974,144...995,136

G

SUFU negative regulator of hedgehog signaling

ClinVar Annotator: match by term: B Lymphoblastic Leukemia/Lymphoma, Not Otherwise Specified

PMID:25741868 PMID:28492532

NCBI chr 9:95,532,228...95,660,594
Ensembl chr 9:95,532,242...95,657,290

G

transcription factor 3

CTD Direct Evidence: marker/mechanism

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

G

tryptophan 2,3-dioxygenase

CTD Direct Evidence: marker/mechanism

NCBI chr 7:102,467,075...102,485,434
Ensembl chr 7:102,467,640...102,485,394

G

tissue factor pathway inhibitor

treatment

NCBI chr10:73,004,762...73,105,772
Ensembl chr10:73,002,522...73,105,858

G

TNF superfamily member 8

CTD Direct Evidence: marker/mechanism

NCBI chr12:24,646,797...24,684,341
Ensembl chr12:24,647,412...24,678,466

G

tumor protein p53

disease_progression

DNA:mutations: :

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

G

WT1 transcription factor

ClinVar Annotator: match by term: Pre-B-cell acute lymphoblastic leukemia

PMID:8621495 PMID:12640141 PMID:16987884 PMID:25741868 PMID:28492532 More...

NCBI chr 1:32,750,300...32,801,832

B-lymphoblastic leukemia/lymphoma MLL rearranged

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

WT1 transcription factor

ClinVar Annotator: match by term: Mixed phenotype acute leukemia with t(v;11q23.3)

NCBI chr 1:32,750,300...32,801,832

B-lymphoblastic leukemia/lymphoma with BCR-ABL1

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

mutS homolog 6

ClinVar Annotator: match by term: B Lymphoblastic Leukemia/Lymphoma with t(9;22)(q34.1;q11.2); BCR-ABL1

PMID:22658618 PMID:25741868 PMID:28492532

NCBI chr14:59,375,602...59,400,252
Ensembl chr14:59,375,691...59,400,174

B-lymphoblastic leukemia/lymphoma with ETV6-RUNX1

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

bone morphogenetic protein receptor type 1A

ClinVar Annotator: match by term: B Lymphoblastic Leukemia/Lymphoma with t(12;21)(p13.2;q22.1); ETV6-RUNX1

PMID:25741868 PMID:28492532 PMID:30093976

NCBI chr 9:44,944,463...45,108,832
Ensembl chr 9:44,941,460...45,027,275

G

partner and localizer of BRCA2

ClinVar Annotator: match by term: B Lymphoblastic Leukemia/Lymphoma with t(12;21)(p13.2;q22.1); ETV6-RUNX1

PMID:25741868 PMID:28492532 PMID:33471991

NCBI chr 5:21,322,952...21,358,363
Ensembl chr 5:21,322,975...21,358,198

G

RB transcriptional corepressor 1

ClinVar Annotator: match by term: B Lymphoblastic Leukemia/Lymphoma with t(12;21)(p13.2;q22.1); ETV6-RUNX1

PMID:25741868 PMID:28492532

NCBI chr 3:26,220,783...26,393,671
Ensembl chr 3:26,220,803...26,394,546

G

RecQ like helicase 4

ClinVar Annotator: match by term: B Lymphoblastic Leukemia/Lymphoma with t(12;21)(p13.2;q22.1); ETV6-RUNX1

PMID:10678659 PMID:12734318 PMID:12838562 PMID:12952869 PMID:15897384 More...

NCBI chr 8:138,725,494...138,732,286
Ensembl chr 8:138,725,633...138,732,096

B-lymphoblastic leukemia/lymphoma with hyperdiploidy

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

Cbl proto-oncogene

ClinVar Annotator: match by term: B lymphoblastic leukemia lymphoma with hyperdiploidy

PMID:24033266 PMID:25741868 PMID:28492532

NCBI chr 1:110,581,049...110,679,284
Ensembl chr 1:110,581,143...110,674,481

B-lymphoblastic leukemia/lymphoma with hypodiploidy

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

succinate dehydrogenase complex flavoprotein subunit A

ClinVar Annotator: match by term: B-lymphoblastic leukemia/lymphoma with hypodiploidy

PMID:25741868 PMID:28492532

NCBI chr 4:163,726...190,145

Burkitt lymphoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

alpha 1,4-galactosyltransferase (P1PK blood group)

CTD Direct Evidence: marker/mechanism

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

G

AT-rich interaction domain 1A

CTD Direct Evidence: marker/mechanism

NCBI chr20:105,981,549...106,066,093
Ensembl chr20:105,981,290...106,065,672

G

BCL2 binding component 3

CTD Direct Evidence: marker/mechanism

NCBI chr 6:40,560,550...40,572,428
Ensembl chr 6:40,561,274...40,567,853

G

BRCA1 DNA repair associated

ClinVar Annotator: match by term: Burkitt lymphoma

PMID:17262179 PMID:25741868 PMID:26467025 PMID:28492532 PMID:31911673 More...

NCBI chr16:63,162,827...63,243,928

G

Bruton tyrosine kinase

ameliorates
treatment

Human cell line in a mouse model
mRNA:increased expression:multiple (human)

PMID:28474336 PMID:30546948

RGD:124713565 RGD:124715474

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

G

calreticulin

treatment

human cell line and recombinant protein in a mouse model
human cells and recombinant protein in a mouse model

PMID:9858521 PMID:10961892

RGD:150521687 RGD:150521702

NCBI chr 6:11,618,691...11,624,299
Ensembl chr 6:11,618,396...11,623,792

G

chaperonin containing TCP1 subunit 6B

CTD Direct Evidence: marker/mechanism

NCBI chr16:28,436,024...28,487,901
Ensembl chr16:28,422,730...28,468,441

G

CD40 molecule

treatment

human cell line in a mouse model

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

G

CD79b molecule

treatment

human cells in mouse model

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

G

G protein subunit alpha 13

CTD Direct Evidence: marker/mechanism

NCBI chr16:56,372,146...56,419,754
Ensembl chr16:56,372,276...56,414,827

G

inhibitor of DNA binding 3, HLH protein

CTD Direct Evidence: marker/mechanism

PMID:23143595 PMID:23143597

NCBI chr20:109,120,403...109,122,269
Ensembl chr20:109,120,691...109,123,210

G

formimidoyltransferase-cyclodeaminase

CTD Direct Evidence: marker/mechanism

NCBI chr 2:89,761,600...89,778,572
Ensembl chr 2:89,761,248...89,782,238

G

MLLT11 transcription factor 7 cofactor

CTD Direct Evidence: marker/mechanism

NCBI chr20:12,625,224...12,635,589
Ensembl chr20:12,626,214...12,626,486

G

MYC proto-oncogene, bHLH transcription factor

ClinVar Annotator: match by term: Burkitt lymphoma

PMID:8220424 PMID:25157968 PMID:27993330

NCBI chr 8:122,282,989...122,288,392
Ensembl chr 8:122,282,630...122,288,384

G

PBX homeobox 1

CTD Direct Evidence: marker/mechanism

PMID:1967982 PMID:17244677

NCBI chr25:63,990,553...64,317,901
Ensembl chr25:63,989,612...64,084,673

G

pyruvate carboxylase

CTD Direct Evidence: marker/mechanism

NCBI chr 1:7,310,738...7,418,357
Ensembl chr 1:7,357,246...7,417,998

G

phosphoinositide-3-kinase regulatory subunit 1

CTD Direct Evidence: marker/mechanism

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

G

ret proto-oncogene

CTD Direct Evidence: marker/mechanism

NCBI chr 9:38,746,088...38,798,773
Ensembl chr 9:38,769,170...38,796,712

G

spalt like transcription factor 3

CTD Direct Evidence: marker/mechanism

NCBI chr18:1,154,033...1,174,030
Ensembl chr18:1,156,502...1,173,946

G

SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4

CTD Direct Evidence: marker/mechanism

NCBI chr 6:9,943,162...10,044,476

G

transcription factor 3

CTD Direct Evidence: marker/mechanism

PMID:1967982 PMID:17244677

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

Carrington Syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

C-C motif chemokine ligand 2

protein:increased expression:alveolar system (human)

NCBI chr16:27,763,354...27,765,437
Ensembl chr16:27,763,555...27,765,416

G

C-X-C motif chemokine ligand 10

protein:increased expression:respiratory system fluid/secretion

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

G

C-X-C motif chemokine ligand 9

protein:increased expression:respiratory system fluid/secretion

NCBI chr 7:24,507,121...24,513,830
Ensembl chr 7:24,507,130...24,513,121

Cd4+ Lymphocyte Deficiency

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

Janus kinase 3

DNA:missense mutation:exon:p.C1066R (c.3196T>C) (human)

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

Chediak-Higashi syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

actinin alpha 2

ClinVar Annotator: match by term: Chédiak-Higashi syndrome

PMID:9215679 PMID:11857544 PMID:28492532

NCBI chr25:73,827,900...73,904,516
Ensembl chr25:73,827,874...73,905,146

G

adaptor related protein complex 3 subunit beta 1

ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndrome

PMID:24033266 PMID:25741868 PMID:28132693 PMID:28492532 PMID:31898847 More...

NCBI chr 4:72,225,658...72,524,971
Ensembl chr 4:72,225,599...72,524,933

G

AT-rich interaction domain 4B

ClinVar Annotator: match by term: Chédiak-Higashi syndrome

PMID:9215679 PMID:11857544 PMID:28492532

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

G

beta-1,3-N-acetylgalactosaminyltransferase 2

ClinVar Annotator: match by term: Chédiak-Higashi syndrome

PMID:9215679 PMID:11857544 PMID:28492532

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

G

biogenesis of lysosomal organelles complex 1 subunit 6

ClinVar Annotator: match by term: Autoinflammatory syndrome

PMID:25741868 PMID:28492532

NCBI chr26:37,605,891...37,622,302
Ensembl chr26:37,604,412...37,622,083

G

caspase recruitment domain family member 14

ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndrome

PMID:9536098 PMID:17576681 PMID:22521419 PMID:24033266 PMID:24999592 More...

NCBI chr16:72,152,673...72,193,299
Ensembl chr16:72,164,840...72,191,624

G

CD27 molecule

ClinVar Annotator: match by term: Autoinflammatory syndrome

PMID:25741868 PMID:28492532

NCBI chr11:6,493,414...6,500,062
Ensembl chr11:6,493,542...6,499,738

G

EDAR associated via death domain

ClinVar Annotator: match by term: Chédiak-Higashi syndrome

PMID:9215679 PMID:11857544 PMID:28492532

NCBI chr25:73,537,185...73,625,338
Ensembl chr25:73,538,944...73,626,038

G

elastase, neutrophil expressed

ClinVar Annotator: match by term: Autoinflammatory syndrome
ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndrome

PMID:10581030 PMID:11675333 PMID:19036076 PMID:23463630 PMID:25427142 More...

NCBI chr 6:599,392...604,925
Ensembl chr 6:601,217...604,725

G

endoplasmic reticulum oxidoreductase 1 beta

ClinVar Annotator: match by term: Chédiak-Higashi syndrome

PMID:9215679 PMID:11857544 PMID:28492532

NCBI chr25:73,378,209...73,445,280
Ensembl chr25:73,381,153...73,445,251

G

geranylgeranyl diphosphate synthase 1

ClinVar Annotator: match by term: Chédiak-Higashi syndrome

PMID:9215679 PMID:11857544 PMID:28492532

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

G

G protein subunit gamma 4

ClinVar Annotator: match by term: Chédiak-Higashi syndrome

PMID:9215679 PMID:11857544 PMID:28492532

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

G

G protein-coupled receptor 137B

ClinVar Annotator: match by term: Chédiak-Higashi syndrome

PMID:9215679 PMID:11857544 PMID:28492532

NCBI chr25:73,301,915...73,371,209
Ensembl chr25:73,302,046...73,372,569

G

HEAT repeat containing 1

ClinVar Annotator: match by term: Chédiak-Higashi syndrome

PMID:9215679 PMID:11857544 PMID:28492532

NCBI chr25:73,684,845...73,743,594
Ensembl chr25:73,685,895...73,743,654

G

interleukin 1 receptor antagonist

ClinVar Annotator: match by term: Autoinflammatory syndrome

PMID:12837270 PMID:16519819 PMID:19729864 PMID:20842532 PMID:21279638 More...

NCBI chr14:16,136,667...16,152,451
Ensembl chr14:16,146,333...16,151,326

G

interleukin 36 receptor antagonist

ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndrome
ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndrome | ClinVar Annotator: match by term: LYST-related condition

PMID:6147717 PMID:9536098 PMID:17576681 PMID:21839423 PMID:22428995 More...

NCBI chr14:16,079,045...16,085,245
Ensembl chr14:16,079,906...16,083,167

G

IL2 inducible T cell kinase

ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndrome

PMID:9536098 PMID:17576681 PMID:22289921 PMID:25741868 PMID:28492532

NCBI chr23:59,575,113...59,650,166
Ensembl chr23:59,575,179...59,650,559

G

galectin 8

ClinVar Annotator: match by term: Chédiak-Higashi syndrome

PMID:9215679 PMID:11857544 PMID:28492532

NCBI chr25:73,661,941...73,682,949
Ensembl chr25:73,661,556...73,687,534

G

lipin 2

ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndrome

PMID:2809904 PMID:9536098 PMID:10969284 PMID:15994876 PMID:17576681 More...

NCBI chr18:62,152,837...62,265,992
Ensembl chr18:62,177,246...62,236,593

G

lysosomal trafficking regulator

ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chediak-Higashi Syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndrome | ClinVar Annotator: match by term: LYST-related condition

PMID:8717042 PMID:8751863 PMID:8896560 PMID:9215679 PMID:9215680 More...

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

G

MEFV innate immunity regulator, pyrin

ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndrome

PMID:5458961 PMID:7677151 PMID:9288094 PMID:9288758 PMID:9527614 More...

NCBI chr 5:2,971,323...2,991,501

G

metabolism of cobalamin associated B

ClinVar Annotator: match by term: Autoinflammatory syndrome

PMID:24033266 PMID:25741868 PMID:28492532

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

G

mevalonate kinase

ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndrome

PMID:1377680 PMID:10369261 PMID:10369262 PMID:10401001 PMID:10417275 More...

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

G

nidogen 1

ClinVar Annotator: match by term: Chédiak-Higashi syndrome

PMID:9215679 PMID:11857544 PMID:28492532

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

G

NLR family CARD domain containing 4

ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndrome

PMID:24033266 PMID:25741868 PMID:28492532

NCBI chr14:75,229,262...75,273,336
Ensembl chr14:75,242,274...75,273,312

G

NLR family pyrin domain containing 12

ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chediak-Higashi Syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndrome
ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndrome

PMID:9536098 PMID:16199547 PMID:17576681 PMID:18230725 PMID:21360512 More...

NCBI chr 6:46,507,241...46,533,832
Ensembl chr 6:46,507,410...46,533,615

G

NLR family pyrin domain containing 3

ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndrome

PMID:49161 PMID:447320 PMID:5173311 PMID:9536098 PMID:11687797 More...

NCBI chr25:84,431,436...84,463,387
Ensembl chr25:84,434,527...84,463,249

G

nucleotide binding oligomerization domain containing 2

ClinVar Annotator: match by term: Autoinflammatory syndrome
ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndrome

PMID:9536098 PMID:11385576 PMID:11385577 PMID:11425413 PMID:11875755 More...

NCBI chr 5:36,492,158...36,531,766
Ensembl chr 5:36,496,414...36,530,499

G

perforin 1

ClinVar Annotator: match by term: Autoinflammatory syndrome

PMID:1156555 PMID:7851014 PMID:10583959 PMID:11179007 PMID:11565555 More...

NCBI chr 9:60,692,544...60,698,000
Ensembl chr 9:60,692,600...60,698,465

G

proteasome 20S subunit beta 8

ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndrome

PMID:24033266 PMID:25741868 PMID:26524591 PMID:28492532

NCBI chr17:39,260,774...39,264,990
Ensembl chr17:39,260,511...39,265,166

G

proline-serine-threonine phosphatase interacting protein 1

ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndrome

PMID:25741868 PMID:27577878 PMID:28492532 PMID:30290665 PMID:35482138

NCBI chr26:6,260,509...6,302,717
Ensembl chr26:6,260,349...6,302,673

G

RAB27A, member RAS oncogene family

ClinVar Annotator: match by term: Autoinflammatory syndrome

PMID:10835631 PMID:15475639 PMID:16199547 PMID:16278825 PMID:18397837 More...

NCBI chr26:28,140,972...28,227,847
Ensembl chr26:28,197,464...28,227,963

G

RNA binding motif protein 34

ClinVar Annotator: match by term: Chédiak-Higashi syndrome

PMID:9215679 PMID:11857544 PMID:28492532

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

G

sodium channel epithelial 1 subunit alpha

ClinVar Annotator: match by term: Autoinflammatory syndrome

NCBI chr11:6,384,073...6,418,620
Ensembl chr11:6,383,956...6,416,337

G

N-sulfoglucosamine sulfohydrolase

ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndrome

PMID:22521419 PMID:24033266 PMID:25741868 PMID:26203641 PMID:26255310 More...

NCBI chr16:72,192,559...72,203,230
Ensembl chr16:72,190,310...72,203,130

G

SH2 domain containing 1A

ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndrome

PMID:9771704 PMID:11049992 PMID:15711562 PMID:22970278 PMID:25741868 More...

G

solute carrier family 7 member 7

ClinVar Annotator: match by term: Autoinflammatory syndrome
ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndrome

PMID:10631139 PMID:15776427 PMID:17530437 PMID:17764084 PMID:20301535 More...

NCBI chr29:23,135,583...23,183,472
Ensembl chr29:23,139,267...23,180,966

G

stimulator of interferon response cGAMP interactor 1

ClinVar Annotator: match by term: Autoinflammatory syndrome
ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndrome

PMID:9536098 PMID:17576681 PMID:25741868 PMID:28087229 PMID:28166811 More...

NCBI chr23:42,153,576...42,160,903
Ensembl chr23:42,153,026...42,160,907

G

syntaxin 11

ClinVar Annotator: match by term: Autoinflammatory syndrome

PMID:24524345 PMID:25741868 PMID:28492532

NCBI chr13:29,045,674...29,084,602
Ensembl chr13:29,048,119...29,048,982

G

syntaxin binding protein 2

ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndrome

PMID:19804848 PMID:19884660 PMID:20558610 PMID:20798128 PMID:20823128 More...

NCBI chr 6:7,123,564...7,133,459
Ensembl chr 6:7,123,597...7,133,460

G

tubulin folding cofactor E

ClinVar Annotator: match by term: Chédiak-Higashi syndrome

PMID:9215679 PMID:11857544 PMID:28492532

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

G

TNF receptor superfamily member 1A

ClinVar Annotator: match by term: Autoinflammatory syndrome

PMID:10199409 PMID:11443543 PMID:16508982 PMID:16635178 PMID:16684962 More...

NCBI chr11:6,364,544...6,378,880
Ensembl chr11:6,364,330...6,378,902

G

translocase of outer mitochondrial membrane 20

ClinVar Annotator: match by term: Chédiak-Higashi syndrome

PMID:9215679 PMID:11857544 PMID:28492532

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

G

unc-13 homolog D

ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndrome

PMID:9536098 PMID:10459864 PMID:14622600 PMID:15466010 PMID:16199547 More...

NCBI chr16:45,836,659...45,856,805
Ensembl chr16:45,838,175...45,857,201

G

X-linked inhibitor of apoptosis

ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndrome

PMID:20517649 PMID:21119115 PMID:23944711 PMID:24033266 PMID:24616127 More...

Chemotherapy-Induced Febrile Neutropenia

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

cytochrome P450 family 3 subfamily A member 5

susceptibility

associated with breast neoplasm;DNA:polymorphism:splice junction:6986A>G (human)

NCBI chr28:13,473,649...13,517,905
Ensembl chr28:13,491,483...13,519,507

G

Fc fragment of IgG receptor IIIa

treatment

associated with Lymphoma, Large B-Cell, Diffuse;DNA:SNP: :rs396991 (human)

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

G

glutathione S-transferase pi 1

susceptibility

DNA:polymorphism: : rs1695(human)

NCBI chr 1:6,676,897...6,679,936

G

inosine triphosphatase

associated with Precursor Cell Lymphoblastic Leukemia-Lymphoma;DNA:SNP: :rs41320251 (human)

NCBI chr 2:33,873,231...33,893,329
Ensembl chr 2:33,873,339...33,893,556

G

mannose binding lectin 2

susceptibility
disease progression

associated with leukemia;
associated with Precursor B-Cell Lymphoblastic Leukemia-Lymphoma;DNA:polymorphisms:exon:
associated with Neoplasms;DNA:SNP,haplotyep:promoter:

PMID:20930093 PMID:24453114 PMID:24819208

RGD:11530041 RGD:11530043 RGD:11530056

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

G

MDM2 proto-oncogene

susceptibility

associated with Breast Neoplasms;DNA:SNP:cds:309T>G(rs2279744)(human)

NCBI chr11:64,434,203...64,465,490
Ensembl chr11:64,434,261...64,469,890

G

tumor protein p53

susceptibility

associated with Breast Neoplasms;DNA:SNP:cds: p.R72P(rs1042522)(human)

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

chronic granulomatous disease

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

cytochrome b-245 heavy chain

ClinVar Annotator: match by term: Chronic granulomatous disease

PMID:1347621 PMID:8634410 PMID:9585602 PMID:17293536 PMID:18546332 More...

G

glucose-6-phosphate dehydrogenase

CTD Direct Evidence: marker/mechanism

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

G

interferon gamma

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

G

cytochrome b-245 light chain

ClinVar Annotator: match by term: Chronic granulomatous disease

PMID:1415254 PMID:1763037 PMID:2243141 PMID:3368442 PMID:8168815 More...

NCBI chr 5:74,023,134...74,030,793
Ensembl chr 5:74,023,082...74,030,750

G

neutrophil cytosolic factor 1

ClinVar Annotator: match by term: Chronic granulomatous disease

PMID:11920901 PMID:24446915 PMID:25741868 PMID:33746979

NCBI chr28:8,334,172...8,349,828
Ensembl chr28:8,332,772...8,349,804

G

neutrophil cytosolic factor 2

ClinVar Annotator: match by term: Chronic granulomatous disease

PMID:9536098 PMID:10498624 PMID:17576681 PMID:19624736 PMID:20167518 More...

NCBI chr25:45,770,370...45,807,064
Ensembl chr25:45,770,641...45,806,515

G

neutrophil cytosolic factor 4

ClinVar Annotator: match by term: Chronic granulomatous disease

PMID:16880254 PMID:19692703 PMID:20167518 PMID:28492532 PMID:29969437 More...

NCBI chr19:19,560,047...19,579,342
Ensembl chr19:19,566,562...19,579,352

G

toll like receptor 5

protein:decreased expression:blood, neutrophil (human)

NCBI chr25:6,418,895...6,440,433
Ensembl chr25:6,437,638...6,440,211

combined cellular and humoral immune defects with granulomas

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

intraflagellar transport associated protein

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

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

NCBI chr 1:28,356,363...28,649,661
Ensembl chr 1:28,586,378...28,646,330

G

recombination activating 1

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

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

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

G

recombination activating 2

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

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

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

cutaneous mastocytosis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

KIT proto-oncogene, receptor tyrosine kinase

ClinVar Annotator: match by term: Cutaneous mastocytosis

PMID:7479840 PMID:7530509 PMID:7691885 PMID:8589724 PMID:9438854 More...

NCBI chr 7:13,808,104...13,891,003
Ensembl chr 7:13,808,037...13,890,976

G

KIT ligand

CTD Direct Evidence: marker/mechanism

NCBI chr11:83,856,149...83,943,095
Ensembl chr11:83,856,157...83,943,083

cyclic hematopoiesis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

abhydrolase domain containing 17A, depalmitoylase

ClinVar Annotator: match by term: Cyclical neutropenia

NCBI chr 6:1,678,836...1,687,370
Ensembl chr 6:1,676,438...1,687,353

G

ADAMTS like 5

ClinVar Annotator: match by term: Cyclical neutropenia

NCBI chr 6:1,278,045...1,287,257
Ensembl chr 6:1,279,036...1,284,946

G

adenosine deaminase tRNA specific 3

ClinVar Annotator: match by term: Cyclical neutropenia

NCBI chr 6:1,695,897...1,705,718

G

adaptor related protein complex 3 subunit beta 1

Neutropenia, cyclic

PMID:47249 PMID:127610 PMID:173440 PMID:336117 PMID:347941 More...

NCBI chr 4:72,225,658...72,524,971
Ensembl chr 4:72,225,599...72,524,933

G

adaptor related protein complex 3 subunit delta 1

ClinVar Annotator: match by term: Cyclical neutropenia

NCBI chr 6:1,901,669...1,951,352
Ensembl chr 6:1,901,507...1,951,314

G

APC regulator of WNT signaling pathway 2

ClinVar Annotator: match by term: Cyclical neutropenia

NCBI chr 6:1,218,684...1,244,343

G

Rho GTPase activating protein 45

ClinVar Annotator: match by term: Cyclical neutropenia

NCBI chr 6:823,109...842,697
Ensembl chr 6:823,154...846,070

G

AT-rich interaction domain 3A

ClinVar Annotator: match by term: Cyclical neutropenia

NCBI chr 6:667,426...727,987
Ensembl chr 6:680,965...727,843

G

ATP synthase F1 subunit delta

ClinVar Annotator: match by term: Cyclical neutropenia

NCBI chr 6:1,010,210...1,013,360
Ensembl chr 6:1,010,265...1,013,002

G

ATPase phospholipid transporting 8B3

ClinVar Annotator: match by term: Cyclical neutropenia

NCBI chr 6:1,575,914...1,602,798

G

azurocidin 1

ClinVar Annotator: match by term: Cyclical neutropenia

NCBI chr 6:576,366...586,913

G

BTB domain containing 2

ClinVar Annotator: match by term: Cyclical neutropenia

NCBI chr 6:1,785,433...1,809,931

G

complement factor D

ClinVar Annotator: match by term: Cyclical neutropenia

NCBI chr 6:608,821...612,382
Ensembl chr 6:608,800...613,498

G

cold inducible RNA binding protein

ClinVar Annotator: match by term: Cyclical neutropenia

NCBI chr 6:1,037,389...1,043,265
Ensembl chr 6:1,039,401...1,042,187

G

calponin 2

ClinVar Annotator: match by term: Cyclical neutropenia

G

casein kinase 1 gamma 2

ClinVar Annotator: match by term: Cyclical neutropenia

NCBI chr 6:1,743,018...1,781,844
Ensembl chr 6:1,743,061...1,783,406

G

chromosome unknown C19orf25 homolog

ClinVar Annotator: match by term: Cyclical neutropenia

NCBI chr 6:1,245,150...1,250,512
Ensembl chr 6:1,245,729...1,250,461

G

DAZ associated protein 1

ClinVar Annotator: match by term: Cyclical neutropenia

NCBI chr 6:1,181,416...1,208,784
Ensembl chr 6:1,181,408...1,208,838

G

ephrin A2

ClinVar Annotator: match by term: Cyclical neutropenia

NCBI chr 6:1,054,382...1,069,544
Ensembl chr 6:1,054,483...1,068,232

G

elastase, neutrophil expressed

ClinVar Annotator: match by term: Cyclic hematopoiesis | ClinVar Annotator: match by term: Cyclical neutropenia

PMID:3229910 PMID:9536098 PMID:10581030 PMID:11001877 PMID:11278653 More...

NCBI chr 6:599,392...604,925
Ensembl chr 6:601,217...604,725

G

family with sequence similarity 174 member C

ClinVar Annotator: match by term: Cyclical neutropenia

NCBI chr 6:1,043,355...1,047,656
Ensembl chr 6:1,044,000...1,047,778

G

fibroblast growth factor 22

ClinVar Annotator: match by term: Cyclical neutropenia

NCBI chr 6:385,718...393,988
Ensembl chr 6:385,811...388,702

G

guanidinoacetate N-methyltransferase

ClinVar Annotator: match by term: Cyclical neutropenia

NCBI chr 6:1,165,016...1,178,458
Ensembl chr 6:1,164,259...1,178,354

G

glutathione peroxidase 4

ClinVar Annotator: match by term: Cyclical neutropenia

NCBI chr 6:873,867...876,225

G

glutamate ionotropic receptor NMDA type subunit 3B

ClinVar Annotator: match by term: Cyclical neutropenia

NCBI chr 6:756,257...766,175
Ensembl chr 6:756,618...766,048

G

hyperpolarization activated cyclic nucleotide gated potassium and sodium channel 2

ClinVar Annotator: match by term: Cyclical neutropenia

NCBI chr 6:326,437...358,119
Ensembl chr 6:324,517...358,119

G

IZUMO family member 4

ClinVar Annotator: match by term: Cyclical neutropenia

NCBI chr 6:1,897,533...1,900,266
Ensembl chr 6:1,897,573...1,900,295

G

KISS1 receptor

ClinVar Annotator: match by term: Cyclical neutropenia

NCBI chr 6:666,386...670,833
Ensembl chr 6:667,210...670,563

G

KLF transcription factor 16

ClinVar Annotator: match by term: Cyclical neutropenia

NCBI chr 6:1,657,265...1,668,431
Ensembl chr 6:1,659,316...1,668,327

G

follistatin-related protein 3

ClinVar Annotator: match by term: Cyclical neutropenia

NCBI chr 6:425,050...435,931
Ensembl chr 6:425,106...436,431

G

phospholipid-transporting ATPase ABCA7

ClinVar Annotator: match by term: Cyclical neutropenia

NCBI chr 6:792,684...821,522
Ensembl chr 6:792,783...821,375

G

CACN subunit beta associated regulatory protein

ClinVar Annotator: match by term: Cyclical neutropenia

NCBI chr 6:999,327...1,006,632

G

cytochrome b-c1 complex subunit 10

ClinVar Annotator: match by term: Cyclical neutropenia

NCBI chr 6:1,378,019...1,388,975

G

methyl-CpG binding domain protein 3

ClinVar Annotator: match by term: Cyclical neutropenia

NCBI chr 6:1,357,388...1,371,835
Ensembl chr 6:1,357,204...1,371,777

G

mediator complex subunit 16

ClinVar Annotator: match by term: Cyclical neutropenia

NCBI chr 6:617,998...638,340

G

mex-3 RNA binding family member D

ClinVar Annotator: match by term: Cyclical neutropenia

NCBI chr 6:1,315,113...1,347,540

G

midnolin

ClinVar Annotator: match by term: Cyclical neutropenia

NCBI chr 6:1,017,141...1,027,577
Ensembl chr 6:1,018,290...1,027,618

G

mitotic spindle positioning

ClinVar Annotator: match by term: Cyclical neutropenia

NCBI chr 6:505,841...520,758
Ensembl chr 6:506,482...520,827

G

MAPK interacting serine/threonine kinase 2

ClinVar Annotator: match by term: Cyclical neutropenia

NCBI chr 6:1,836,009...1,851,325
Ensembl chr 6:1,835,993...1,851,039

G

MOB kinase activator 3A

ClinVar Annotator: match by term: Cyclical neutropenia

NCBI chr 6:1,872,426...1,897,476
Ensembl chr 6:1,870,701...1,885,300

G

NADH:ubiquinone oxidoreductase core subunit S7

ClinVar Annotator: match by term: Cyclical neutropenia

NCBI chr 6:1,152,380...1,163,488
Ensembl chr 6:1,152,540...1,164,175

G

one cut homeobox 3

ClinVar Annotator: match by term: Cyclical neutropenia

Ensembl chr 6:1,540,584...1,569,628

G

paralemmin

ClinVar Annotator: match by term: Cyclical neutropenia

NCBI chr 6:461,030...503,688
Ensembl chr 6:474,474...504,230

G

proprotein convertase subtilisin/kexin type 4

ClinVar Annotator: match by term: Cyclical neutropenia

NCBI chr 6:1,253,729...1,264,114
Ensembl chr 6:1,254,276...1,263,847

G

polo like kinase 5 (inactive)

ClinVar Annotator: match by term: Cyclical neutropenia

NCBI chr 6:1,301,199...1,309,349

G

phospholipid phosphatase related 3

ClinVar Annotator: match by term: Cyclical neutropenia

NCBI chr 6:560,961...571,202
Ensembl chr 6:558,495...570,619

G

RNA polymerase II, I and III subunit E

ClinVar Annotator: match by term: Cyclical neutropenia

NCBI chr 6:844,196...856,127
Ensembl chr 6:841,615...855,214

G

RNA polymerase mitochondrial

ClinVar Annotator: match by term: Cyclical neutropenia

NCBI chr 6:358,865...377,007
Ensembl chr 6:358,917...377,089

G

serine protease 57

ClinVar Annotator: match by term: Cyclical neutropenia

NCBI chr 6:443,859...449,539
Ensembl chr 6:444,098...449,152

G

proteinase 3

ClinVar Annotator: match by term: Cyclical neutropenia

NCBI chr 6:590,193...598,829

G

polypyrimidine tract binding protein 1

ClinVar Annotator: match by term: Cyclical neutropenia

NCBI chr 6:546,010...560,086
Ensembl chr 6:545,964...562,630

G

PWWP domain containing 3A, DNA repair factor

ClinVar Annotator: match by term: Cyclical neutropenia

NCBI chr 6:1,123,556...1,145,761
Ensembl chr 6:1,125,080...1,145,358

G

R3H domain containing 4

ClinVar Annotator: match by term: Cyclical neutropenia

NCBI chr 6:643,058...662,407
Ensembl chr 6:644,005...662,338

G

receptor accessory protein 6

ClinVar Annotator: match by term: Cyclical neutropenia

NCBI chr 6:1,264,551...1,271,674

G

RNA exonuclease 1 homolog

ClinVar Annotator: match by term: Cyclical neutropenia

NCBI chr 6:1,605,913...1,638,819
Ensembl chr 6:1,604,929...1,638,468

G

ring finger protein 126

ClinVar Annotator: match by term: Cyclical neutropenia

NCBI chr 6:392,717...409,139

G

ribosomal protein S15

ClinVar Annotator: match by term: Cyclical neutropenia

NCBI chr 6:1,211,716...1,213,896
Ensembl chr 6:1,211,713...1,214,044

G

strawberry notch homolog 2

ClinVar Annotator: match by term: Cyclical neutropenia

NCBI chr 6:877,066...950,663
Ensembl chr 6:877,049...931,433

G

secretory carrier membrane protein 4

ClinVar Annotator: match by term: Cyclical neutropenia

NCBI chr 6:1,695,545...1,718,633
Ensembl chr 6:1,695,876...1,719,189

G

serine/threonine kinase 11

ClinVar Annotator: match by term: Cyclical neutropenia

NCBI chr 6:973,033...996,857
Ensembl chr 6:974,144...995,136

G

transcription factor 3

ClinVar Annotator: match by term: Cyclical neutropenia

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

G

transmembrane protein 259

ClinVar Annotator: match by term: Cyclical neutropenia

NCBI chr 6:766,097...777,348
Ensembl chr 6:765,587...777,399

G

WD repeat domain 18

ClinVar Annotator: match by term: Cyclical neutropenia

NCBI chr 6:740,712...750,797
Ensembl chr 6:740,729...754,592

diffuse cutaneous mastocytosis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

KIT proto-oncogene, receptor tyrosine kinase

ClinVar Annotator: match by term: MASTOCYTOSIS, DIFFUSE CUTANEOUS

PMID:7479840 PMID:7691885 PMID:8589724 PMID:9827716 PMID:9990072 More...

NCBI chr 7:13,808,104...13,891,003
Ensembl chr 7:13,808,037...13,890,976

diffuse large B-cell lymphoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ATP binding cassette subfamily B member 1

CTD Direct Evidence: marker/mechanism

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

G

ATP binding cassette subfamily G member 2 (JR blood group)

CTD Direct Evidence: marker/mechanism

NCBI chr 7:36,458,110...36,599,753

G

ALK receptor tyrosine kinase

CTD Direct Evidence: marker/mechanism

NCBI chr14:77,632,809...78,408,307

G

beta-2-microglobulin

CTD Direct Evidence: marker/mechanism

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

G

BCAS2 pre-mRNA processing factor

CTD Direct Evidence: marker/mechanism

NCBI chr20:19,084,908...19,099,204
Ensembl chr20:19,084,954...19,099,590

G

BCL2 apoptosis regulator

CTD Direct Evidence: marker/mechanism

NCBI chr18:16,440,560...16,643,187
Ensembl chr18:16,441,733...16,637,895

G

BCL6 transcription repressor

disease_progression

diffuse large B-cell lymphoma DNA:translocation:promoter,CDS:t(3;16)(q27;p11) results in IL21R promoter fused to BCL6 coding region

PMID:11821949 PMID:15701085

RGD:11530023 RGD:1600111

NCBI chr15:81,997,659...82,022,059
Ensembl chr15:81,998,545...82,009,946

G

B-Raf proto-oncogene, serine/threonine kinase

ClinVar Annotator: match by term: Diffuse large B cell lymphoma

NCBI chr21:109,495,525...109,690,261

G

BRCA2 DNA repair associated

ClinVar Annotator: match by term: Diffuse large B cell lymphoma

PMID:9150172 PMID:18489799 PMID:20104584 PMID:21138478 PMID:22798144 More...

NCBI chr 3:11,070,086...11,155,257
Ensembl chr 3:11,071,682...11,155,213

G

Bruton tyrosine kinase

ClinVar Annotator: match by term: Diffuse large B cell lymphoma

PMID:24869598 PMID:25082755 PMID:25189416 PMID:25741868 PMID:27199251 More...

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

G

caspase recruitment domain family member 11

CTD Direct Evidence: marker/mechanism
DNA:missense mutations:exons:multiple (human)

PMID:18323416 PMID:25049379 PMID:26192916

G

catalase

CTD Direct Evidence: marker/mechanism

NCBI chr 1:30,792,533...30,828,920
Ensembl chr 1:30,792,399...30,829,592

G

coiled-coil domain containing 86

CTD Direct Evidence: marker/mechanism

NCBI chr 1:12,994,892...13,004,134
Ensembl chr 1:12,992,953...13,004,029

G

CD22 molecule

treatment

NCBI chr 6:30,251,220...30,285,084
Ensembl chr 6:30,270,229...30,282,859

G

CD40 molecule

susceptibility

DNA:SNP:5' utr:c.-1C>T (rs1883832) (human)

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

G

CD79a molecule

CTD Direct Evidence: marker/mechanism

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

G

CD79b molecule

treatment
severity

ClinVar Annotator: match by term: Diffuse large B cell lymphoma
DNA:missense mutation:multiple, exon 5 (human)

PMID:11160144 PMID:25708834 PMID:31402495 PMID:31609782

RGD:151665133 RGD:151665203

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

G

cyclin dependent kinase 1

CTD Direct Evidence: marker/mechanism

NCBI chr 9:70,475,736...70,492,947

G

checkpoint kinase 2

ClinVar Annotator: match by term: Diffuse large B cell lymphoma

PMID:16199547 PMID:21876083 PMID:24713400 PMID:28492532

NCBI chr19:11,567,529...11,621,180
Ensembl chr19:11,567,528...11,604,792

G

clathrin heavy chain

CTD Direct Evidence: marker/mechanism

NCBI chr16:33,751,641...33,826,415
Ensembl chr16:33,752,556...33,799,102

G

CREB binding protein

ClinVar Annotator: match by term: Diffuse large B cell lymphoma

PMID:24755471 PMID:28481359 PMID:30239046 PMID:33323405

NCBI chr 5:3,415,548...3,570,030
Ensembl chr 5:3,415,412...3,540,943

G

dicer 1, ribonuclease III

disease_progression

NCBI chr24:72,915,550...72,986,658
Ensembl chr24:72,915,499...72,963,006

G

DNA methyltransferase 3 alpha

ClinVar Annotator: match by term: Diffuse large B cell lymphoma

PMID:25363760 PMID:25741868 PMID:29900417 PMID:30478443 PMID:32581362 More...

NCBI chr14:82,313,414...82,427,170
Ensembl chr14:82,402,826...82,420,819

G

ETS variant transcription factor 6

ClinVar Annotator: match by term: Diffuse large B cell lymphoma

NCBI chr11:11,567,522...11,812,292
Ensembl chr11:11,567,632...11,811,716

G

enhancer of zeste 2 polycomb repressive complex 2 subunit

CTD Direct Evidence: marker/mechanism

PMID:20081860 PMID:28438623

NCBI chr21:117,380,518...117,515,224
Ensembl chr21:117,380,361...117,421,573

G

Fc fragment of IgG receptor IIa

disease_progression

DNA:SNP: :rs1801274 (human)

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

G

forkhead box O1

ClinVar Annotator: match by term: Diffuse large B cell lymphoma

PMID:26314988 PMID:29721381 PMID:35079069

NCBI chr 3:18,916,849...19,027,776
Ensembl chr 3:18,920,651...19,027,707

G

GLI family zinc finger 1

CTD Direct Evidence: marker/mechanism

NCBI chr11:53,371,929...53,384,339
Ensembl chr11:53,375,558...53,385,269

G

glutathione S-transferase pi 1

susceptibility

DNA:SNP: :(rs1695)(human)

NCBI chr 1:6,676,897...6,679,936

G

intercellular adhesion molecule 1

disease_progression

proteion:increased expression:serum:

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

G

interleukin 21 receptor

diffuse large B-cell lymphoma DNA:translocation:promoter,CDS:t(3;16)(q27;p11) results in IL21R promoter fused to BCL6 coding region

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

G

inner mitochondrial membrane peptidase subunit 2

CTD Direct Evidence: marker/mechanism

NCBI chr21:79,530,113...80,388,851

G

interferon regulatory factor 4

disease_progression

NCBI chr17:71,739,920...71,758,811

G

lysine methyltransferase 2D

CTD Direct Evidence: marker/mechanism

NCBI chr11:45,260,873...45,303,898
Ensembl chr11:45,263,408...45,302,423

G

glutathione S-transferase Mu 1

treatment

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

G

mismatch repair endonuclease PMS2

ClinVar Annotator: match by term: Diffuse large B cell lymphoma

NCBI chr28:15,174,359...15,209,962
Ensembl chr28:15,172,100...15,209,852

G

MALT1 paracaspase

CTD Direct Evidence: marker/mechanism

NCBI chr18:20,984,985...21,064,198
Ensembl chr18:20,985,819...21,054,554

G

marker of proliferation Ki-67

disease_progression

NCBI chr 9:120,697,183...120,727,039
Ensembl chr 9:120,698,834...120,726,866

G

methylenetetrahydrofolate reductase

susceptibility

DNA:transition, transversion, haplotype:cds:g.677C>T, g.1298A>C (human)

NCBI chr20:119,987,667...120,003,611
Ensembl chr20:119,990,133...120,002,950

G

MYC proto-oncogene, bHLH transcription factor

CTD Direct Evidence: marker/mechanism

NCBI chr 8:122,282,989...122,288,392
Ensembl chr 8:122,282,630...122,288,384

G

MYD88 innate immune signal transduction adaptor

severity

DNA:missense mutation:L265P (human)
ClinVar Annotator: match by term: Diffuse large B cell lymphoma

PMID:21179087 PMID:22931316 PMID:23215570 PMID:23355535 PMID:26619011 More...

NCBI chr15:1,276,804...1,281,811
Ensembl chr15:1,276,798...1,281,166

G

nibrin

ClinVar Annotator: match by term: Diffuse large B cell lymphoma

PMID:9590180 PMID:16415040 PMID:28492532

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

G

nectin cell adhesion molecule 2

CTD Direct Evidence: marker/mechanism

NCBI chr 6:38,320,791...38,361,419
Ensembl chr 6:38,320,933...38,361,742

G

neurofibromin 1

ClinVar Annotator: match by term: Diffuse large B cell lymphoma

PMID:21390130 PMID:22158541 PMID:23292937

NCBI chr16:24,550,983...24,836,311
Ensembl chr16:24,550,977...24,836,307

G

NFKB inhibitor alpha

no_association

SNA:polymorphism(s)

NCBI chr24:12,211,619...12,216,185
Ensembl chr24:12,210,281...12,214,854

G

nucleolar protein with MIF4G domain 1

CTD Direct Evidence: marker/mechanism

NCBI chr21:125,078,090...125,098,819

G

3-phosphoinositide dependent protein kinase 1

CTD Direct Evidence: marker/mechanism

G

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

CTD Direct Evidence: marker/mechanism

NCBI chr15:10,218,034...10,304,874
Ensembl chr15:10,218,805...10,294,316

G

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

CTD Direct Evidence: marker/mechanism

NCBI chr15:51,705,585...51,885,848
Ensembl chr15:51,775,733...51,889,238

G

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

CTD Direct Evidence: marker/mechanism

NCBI chr20:122,040,131...122,111,397
Ensembl chr20:122,041,963...122,078,504

G

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

CTD Direct Evidence: marker/mechanism

NCBI chr21:75,781,812...75,823,404
Ensembl chr21:75,784,648...75,825,496

G

PR/SET domain 1

disease_progression

NCBI chr13:67,695,436...67,719,487
Ensembl chr13:67,695,309...67,718,931

G

peroxiredoxin 3

CTD Direct Evidence: marker/mechanism

NCBI chr 9:111,957,865...111,968,514
Ensembl chr 9:111,955,952...111,968,475

G

peroxiredoxin 4

CTD Direct Evidence: marker/mechanism

NCBI chr X:22,113,405...22,136,307
Ensembl chr X:22,116,605...22,136,308

G

protein arginine methyltransferase 5

CTD Direct Evidence: marker/mechanism

NCBI chr29:23,288,458...23,297,746
Ensembl chr29:23,288,835...23,297,518

G

phosphatase and tensin homolog

ClinVar Annotator: match by term: Diffuse large B cell lymphoma

PMID:10468583 PMID:10555148 PMID:10698513 PMID:10866302 PMID:10866658 More...

NCBI chr 9:81,308,058...81,412,386
Ensembl chr 9:81,309,099...81,409,146

G

Ran GTPase activating protein 1

CTD Direct Evidence: marker/mechanism

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

G

ribosomal protein S6 kinase B1

CTD Direct Evidence: marker/mechanism

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

G

SEC31 homolog A, COPII coat complex component

CTD Direct Evidence: marker/mechanism

NCBI chr 7:31,207,349...31,288,484
Ensembl chr 7:31,207,089...31,288,574

G

splicing factor 3a subunit 1

ClinVar Annotator: match by term: Diffuse large B cell lymphoma

PMID:22037554 PMID:26498691 PMID:33563892

NCBI chr19:13,213,059...13,237,200
Ensembl chr19:13,211,275...13,237,257

G

S-phase kinase associated protein 2

CTD Direct Evidence: marker/mechanism

NCBI chr 4:35,009,114...35,040,518
Ensembl chr 4:35,009,076...35,042,632

G

SMAD specific E3 ubiquitin protein ligase 2

NCBI chr16:56,615,171...56,728,239

G

suppressor of cytokine signaling 1

ClinVar Annotator: match by term: Diffuse large B cell lymphoma

PMID:19734449 PMID:23296022 PMID:26336985 PMID:28302137 PMID:29625055

NCBI chr 5:10,731,866...10,733,745
Ensembl chr 5:10,732,350...10,732,991

G

superoxide dismutase 2

CTD Direct Evidence: marker/mechanism

NCBI chr13:87,284,537...87,297,998
Ensembl chr13:87,280,686...87,297,974

G

superoxide dismutase 3

CTD Direct Evidence: marker/mechanism

NCBI chr27:25,554,474...25,559,873
Ensembl chr27:25,555,082...25,555,804

G

signal transducer and activator of transcription 3

ClinVar Annotator: match by term: Diffuse large B cell lymphoma

PMID:21690253 PMID:22591296 PMID:22859607 PMID:23926297 PMID:25873174 More...

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

G

spleen associated tyrosine kinase

CTD Direct Evidence: marker/mechanism

NCBI chr12:101,254,085...101,374,724
Ensembl chr12:101,260,061...101,349,856

G

TBL1X/Y related 1

ClinVar Annotator: match by term: Diffuse large B cell lymphoma

PMID:9450851 PMID:16492805 PMID:21156281 PMID:21156282 PMID:25741868 More...

NCBI chr15:12,223,404...12,406,165
Ensembl chr15:12,224,226...12,402,908

G

tumor protein p53

ClinVar Annotator: match by term: Diffuse large B cell lymphoma

PMID:1631137 PMID:1978757 PMID:8062826 PMID:8099841 PMID:8425176 More...

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

G

thioredoxin interacting protein

CTD Direct Evidence: marker/mechanism

NCBI chr20:12,756,145...12,759,853
Ensembl chr20:12,756,053...12,761,177

Drug-Induced Agranulocytosis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

colony stimulating factor 3

treatment

associated with Multiple Myeloma;
associated with Graves Disease;

PMID:8935143 PMID:15785251

RGD:11039034 RGD:11039041

NCBI chr16:66,162,814...66,166,192
Ensembl chr16:66,163,681...66,165,172

G

interleukin 1 beta

treatment

associated with Glioblastoma;

NCBI chr14:15,844,628...15,852,652
Ensembl chr14:15,844,672...15,850,729

G

interleukin 1 receptor antagonist

associated with Leukemia;protein:decreased expression:serum:

NCBI chr14:16,136,667...16,152,451
Ensembl chr14:16,146,333...16,151,326

G

N-acetyltransferase 2

associated with Inflammation;

NCBI chr 8:16,451,144...16,494,961
Ensembl chr 8:16,493,749...16,494,621

Drug-Induced Leukopenia

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

cytochrome P450 family 2 subfamily C member 8

susceptibility

associated with Ovarian Neoplasms: DNA:polymorphism: :

NCBI chr 9:88,154,131...88,183,915
Ensembl chr 9:88,154,134...88,183,458

G

cytochrome P450 family 3 subfamily A member 5

susceptibility

associated with Ovarian Neoplasms: DNA:polymorphism: :

NCBI chr28:13,473,649...13,517,905
Ensembl chr28:13,491,483...13,519,507

G

glutathione S-transferase pi 1

susceptibility

associated with Urologic Neoplasms;DNA:polymorphism:cds:p.I105V(human)

NCBI chr 1:6,676,897...6,679,936

Drug-induced Neutropenia

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ATP binding cassette subfamily B member 1

susceptibility

Breast Neoplasms;DNA:SNP: :3435 C>T(human)
associated with Carcinoma, Non-Small-Cell Lung;DNA:SNP: :2677G>T(human)
associated with Precursor Cell Lymphoblastic Leukemia-Lymphoma;DNA:SNPs:rs1045642,rs1128503(human)

PMID:17534875 PMID:22271208 PMID:25007187

RGD:11080964 RGD:11080979 RGD:11081001

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

G

ATP binding cassette subfamily C member 2

susceptibility
no_association

associated with neoplasm;DNA:SNP:rs12762549(human)

PMID:18294295 PMID:23188068

RGD:11080980 RGD:11080999

NCBI chr 9:92,826,423...92,902,389
Ensembl chr 9:92,841,818...92,902,265

G

colony stimulating factor 3

treatment

associated with Hepatitis C, Chronic;
associated with Leukemia, Hairy Cell;

PMID:2461131 PMID:17660602

RGD:11039035 RGD:11039036

NCBI chr16:66,162,814...66,166,192
Ensembl chr16:66,163,681...66,165,172

G

cytochrome P450 family 2 subfamily C member 8

susceptibility

associated with Ovarian Neoplasms: DNA:polymorphism: :

NCBI chr 9:88,154,131...88,183,915
Ensembl chr 9:88,154,134...88,183,458

G

cytochrome P450 family 3 subfamily A member 5

susceptibility

associated with breast neoplasm;DNA:polymorphism:splice junction:6986A>G (human)
associated with Ovarian Neoplasms: DNA:polymorphism: :

PMID:19332043 PMID:21702053

RGD:11353800 RGD:11353804

NCBI chr28:13,473,649...13,517,905
Ensembl chr28:13,491,483...13,519,507

G

dihydropyrimidine dehydrogenase

treatment
no_association

DNA:splice-site mutation, missense mutations: :multiple
associated with Neoplasms;DNA:splice-site mutation:intron:IVS14+1G>A (human)
associated with Neoplasms;DNA:missense mutation: :p.M166V (496A>G) (human)
associated with Colorectal Neoplasms;DNA:SNPs: :rs1801159 (1896T>C), rs17376848 (human)
associated with Neoplasms;DNA:missense mutations: :multiple

PMID:11156223 PMID:12209976 PMID:19473056 PMID:23942539

RGD:11098817 RGD:11251736 RGD:11251737 RGD:11251738

NCBI chr20:35,376,738...36,215,388
Ensembl chr20:35,377,266...36,215,679

G

ERCC excision repair 1, endonuclease non-catalytic subunit

treatment

associated with Colorectal Neoplasms;DNA:SNP

NCBI chr 6:38,857,067...38,900,177
Ensembl chr 6:38,854,803...38,872,967

G

ERCC excision repair 2, TFIIH core complex helicase subunit

treatment

associated with Urinary Bladder Neoplasms;DNA:SNP: :p.K751Q (rs13181) (human)

NCBI chr 6:38,804,296...38,823,229
Ensembl chr 6:38,801,423...38,823,073

G

Fc fragment of IgG receptor IIIa

associated with Lymphoma, B-Cell;DNA:polymorphism: :p.V158F (human)
associated with Lymphoma, Large B-Cell, Diffuse;DNA:polymorphism: :p.V158F (human)
associated with Non-Hodgkin lymphoma;DNA:polymorphism: :p.V158F (human)

PMID:19933905 PMID:20730791 PMID:21883784

RGD:11344964 RGD:11344973 RGD:11352256

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

G

glutathione S-transferase pi 1

susceptibility

DNA:SNP:cds:p.I105V (rs1695) (human)

NCBI chr 1:6,676,897...6,679,936

G

interleukin 1 alpha

treatment

associated with Carcinoma, Non-Small-Cell Lung

NCBI chr14:15,789,710...15,801,938
Ensembl chr14:15,789,013...15,796,611

G

MDM2 proto-oncogene

susceptibility

associated with Small Cell Lung Carcinoma;DNA:SNP::rs2279744(human)

NCBI chr11:64,434,203...64,465,490
Ensembl chr11:64,434,261...64,469,890

G

solute carrier organic anion transporter family member 1B3

susceptibility
no_association

associated with neoplasm;DNA:SNP:rs11045585(human)
associated with neoplasm;DNA:SNP: rs11045585(human)

PMID:18294295 PMID:23188068

RGD:11080980 RGD:11080999

NCBI chr11:20,637,429...20,760,577
Ensembl chr11:20,648,582...20,761,161

G

superoxide dismutase 2

susceptibility

associated with female breast cancer;DNA:missense mutation:cds:p.V16A (rs4880) (human)

NCBI chr13:87,284,537...87,297,998
Ensembl chr13:87,280,686...87,297,974

G

tumor protein p53

susceptibility

associated with Small Cell Lung Carcinoma;DNA:SNP:: rs1042522(human)

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

Dursun Syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

glucose-6-phosphatase catalytic subunit 3

ClinVar Annotator: match by term: Dursun syndrome

PMID:25741868 PMID:28492532

NCBI chr16:62,315,324...62,321,522
Ensembl chr16:62,315,624...62,321,512

Eosinophilia

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ATP binding cassette subfamily B member 1

associated with Chronic Rhinosinusitis;protein:increased expression:mucosa of ethmoidal sinus (human)

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

G

bradykinin receptor B2

NCBI chr24:74,084,907...74,125,604
Ensembl chr24:74,118,210...74,122,909

G

C-C motif chemokine ligand 11

associated with Sinusitis

NCBI chr16:27,792,699...27,796,437
Ensembl chr16:27,794,033...27,796,460

G

C-C motif chemokine ligand 17

severity

associated with Lymphoma, T-Cell

NCBI chr 5:43,343,525...43,350,096
Ensembl chr 5:43,346,329...43,348,599

G

C-C motif chemokine ligand 24

associated with Sinusitis

NCBI chr28:10,067,482...10,069,992
Ensembl chr28:10,066,664...10,069,695

G

C-C motif chemokine ligand 26

associated with Pleural Effusion
associated with Sinusitis

PMID:15947325 PMID:19296494

RGD:4891487 RGD:5130928

NCBI chr28:10,036,177...10,038,962
Ensembl chr28:10,036,337...10,038,875

G

C-C motif chemokine receptor 3

associated with Asthma

NCBI chr22:7,648,410...7,698,523
Ensembl chr22:7,697,068...7,698,135

G

CCAAT enhancer binding protein beta

NCBI chr 2:13,780,538...13,782,639
Ensembl chr 2:13,781,160...13,782,194

G

factor interacting with PAPOLA and CPSF1

DNA:gene fusion

NCBI chr 7:15,072,962...15,147,216
Ensembl chr 7:15,069,470...15,147,178

G

GATA binding protein 3

CTD Direct Evidence: therapeutic

NCBI chr 9:8,101,404...8,122,762
Ensembl chr 9:8,101,432...8,123,064

G

interleukin 5

treatment
severity

associated with Toxocariasis
CTD Direct Evidence: marker/mechanism
associated with Lymphoma, T-Cell
associated with Dermatitis, Atopic;DNA:polymorphism:promoter:-703C>T (human)

PMID:1699772 PMID:1988543 PMID:11006010 PMID:11884473 PMID:14581138 More...

RGD:11354898 RGD:11354913 RGD:11354921 RGD:11354933 RGD:625643

NCBI chr23:35,360,143...35,375,169
Ensembl chr23:35,360,506...35,362,178

G

interleukin 5 receptor subunit alpha

NCBI chr22:39,156,711...39,199,394
Ensembl chr22:39,158,023...39,192,861

G

cytochrome b-245 light chain

DNA:deletion:splice junction:

NCBI chr 5:74,023,134...74,030,793
Ensembl chr 5:74,023,082...74,030,750

G

MYD88 innate immune signal transduction adaptor

CTD Direct Evidence: marker/mechanism

NCBI chr15:1,276,804...1,281,811
Ensembl chr15:1,276,798...1,281,166

G

platelet derived growth factor receptor alpha

DNA:translocation: (human)
DNA:gene fusion

PMID:15284118 PMID:23114151

RGD:11075088 RGD:1580848

NCBI chr 7:14,243,291...14,307,373
Ensembl chr 7:14,241,070...14,307,422

G

recombination activating 2

CTD Direct Evidence: therapeutic

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

G

SHANK associated RH domain interactor

CTD Direct Evidence: marker/mechanism

NCBI chr 8:138,310,036...138,315,120
Ensembl chr 8:138,307,581...138,315,101

G

toll like receptor 2

CTD Direct Evidence: marker/mechanism

NCBI chr 7:100,239,533...100,565,955
Ensembl chr 7:100,258,441...100,260,795

G

toll like receptor 4

CTD Direct Evidence: marker/mechanism

NCBI chr12:21,873,762...21,885,562
Ensembl chr12:21,871,773...21,885,515

eosinophilia-myalgia syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

major histocompatibility complex, class II, DQ alpha 1

CTD Direct Evidence: marker/mechanism

NCBI chr17:39,422,445...39,428,777
Ensembl chr17:39,420,134...39,428,871

eosinophilic esophagitis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

angiogenin

NCBI chr29:21,215,985...21,226,927

G

ankyrin repeat domain 27

DNA:SNPs:intron: (rs3815700, rs10410895) (human)

NCBI chr 6:27,645,474...27,724,829
Ensembl chr 6:27,644,597...27,724,819

G

calpain 14

mRNA:increased expression:esophagus
DNA:snps:multiple (human)
CTD Direct Evidence: marker/mechanism

PMID:25017104 PMID:25407941

RGD:11100048 RGD:11100049

NCBI chr14:76,271,701...76,334,737
Ensembl chr14:76,302,648...76,335,341

G

C-C motif chemokine ligand 26

treatment

protein:increased expression:esophagus (human)

PMID:18844613 PMID:24704289

RGD:11081156 RGD:11081157

NCBI chr28:10,036,177...10,038,962
Ensembl chr28:10,036,337...10,038,875

G

C-C motif chemokine receptor 3

NCBI chr22:7,648,410...7,698,523
Ensembl chr22:7,697,068...7,698,135

G

CD40 ligand

protein:decreased expression:plasma

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

G

cytochrome P450 family 2 subfamily C member 19

treatment

DNA:polymorphisms::

NCBI chr 9:87,981,300...88,025,007

G

interleukin 5

NCBI chr23:35,360,143...35,375,169
Ensembl chr23:35,360,506...35,362,178

G

platelet and endothelial cell adhesion molecule 1

protein:increased expression:esophagus (human)

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

G

transforming growth factor beta 1

NCBI chr 6:35,651,583...35,674,387
Ensembl chr 6:35,648,677...35,674,365

G

thymic stromal lymphopoietin

CTD Direct Evidence: marker/mechanism

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

eosinophilic gastroenteritis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

C-C motif chemokine ligand 26

mRNA:increased expression:gastric antrum (human)

NCBI chr28:10,036,177...10,038,962
Ensembl chr28:10,036,337...10,038,875

G

interleukin 5

protein:increased expression:intestine, eosinophil

NCBI chr23:35,360,143...35,375,169
Ensembl chr23:35,360,506...35,362,178

Eosinophilic Pustular Folliculitis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

C-C motif chemokine ligand 26

protein:increased expression:skin, sebocyte (human)

NCBI chr28:10,036,177...10,038,962
Ensembl chr28:10,036,337...10,038,875

extranodal marginal zone lymphoma of mucosa-associated lymphoid tissue

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

BCL10 immune signaling adaptor

ClinVar Annotator: match by term: MALT lymphoma

PMID:9989495 PMID:10380920 PMID:10408400

NCBI chr20:48,073,489...48,084,635
Ensembl chr20:48,073,800...48,085,136

G

baculoviral IAP repeat containing 3

treatment

DNA:gene fusion: (human)

NCBI chr 1:93,692,239...93,711,905

G

C-X-C motif chemokine receptor 4

protein:increased expression: mucosa-associated lymphoid tissue (human)

NCBI chr10:20,336,470...20,340,308
Ensembl chr10:20,336,247...20,340,309

G

major histocompatibility complex, class II, DQ alpha 1

treatment

associated with Helicobacter Infections; DNA:polymorphim, haplotype: :HLA-DQA1*0103 (human)

NCBI chr17:39,422,445...39,428,777
Ensembl chr17:39,420,134...39,428,871

Febrile Neutropenia

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

C-C motif chemokine ligand 2

associated with Hematologic Diseases;protein:increased expression:plasma (human)

NCBI chr16:27,763,354...27,765,437
Ensembl chr16:27,763,555...27,765,416

follicular dendritic cell sarcoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

signal transducer and activator of transcription 3

ClinVar Annotator: match by term: EBV-Positive Inflammatory Follicular Dendritic Cell Sarcoma

PMID:24797340 PMID:25586472 PMID:25741868 PMID:28356514 PMID:28492532 More...

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

follicular lymphoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ATPase H+ transporting accessory protein 1

CTD Direct Evidence: marker/mechanism

G

ATPase H+ transporting V1 subunit B2

CTD Direct Evidence: marker/mechanism

NCBI chr 8:18,264,210...18,289,951
Ensembl chr 8:18,264,329...18,293,444

G

BCL10 immune signaling adaptor

ClinVar Annotator: match by term: Follicular lymphoma

NCBI chr20:48,073,489...48,084,635
Ensembl chr20:48,073,800...48,085,136

G

BCL2 apoptosis regulator

susceptibility

DNA:translocation: ;t(14;18)(q32;q21)
CTD Direct Evidence: marker/mechanism

PMID:3287162 PMID:12855623 PMID:16671111

RGD:1599473 RGD:734639

NCBI chr18:16,440,560...16,643,187
Ensembl chr18:16,441,733...16,637,895

G

CD40 molecule

susceptibility

DNA:SNP:5' utr:c.-1C>T (rs1883832) (human)

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

G

CD40 ligand

human gene in a mouse model

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

G

CD79b molecule

treatment

human cells in mouse model

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

G

CREB binding protein

CTD Direct Evidence: marker/mechanism

NCBI chr 5:3,415,548...3,570,030
Ensembl chr 5:3,415,412...3,540,943

G

EBF transcription factor 1

CTD Direct Evidence: marker/mechanism

NCBI chr23:61,097,268...61,502,784
Ensembl chr23:61,109,331...61,243,631

G

enhancer of zeste 2 polycomb repressive complex 2 subunit

CTD Direct Evidence: marker/mechanism

NCBI chr21:117,380,518...117,515,224
Ensembl chr21:117,380,361...117,421,573

G

interferon alpha 2

CTD Direct Evidence: therapeutic

NCBI chr12:58,468,018...58,469,825

G

interferon regulatory factor 4

severity

NCBI chr17:71,739,920...71,758,811

G

3-ketodihydrosphingosine reductase

CTD Direct Evidence: marker/mechanism

PMID:8417785 PMID:25526675

NCBI chr18:16,392,714...16,429,912
Ensembl chr18:16,392,756...16,434,035

G

lysine methyltransferase 2D

CTD Direct Evidence: marker/mechanism

NCBI chr11:45,260,873...45,303,898
Ensembl chr11:45,263,408...45,302,423

G

methylenetetrahydrofolate reductase

CTD Direct Evidence: marker/mechanism

NCBI chr20:119,987,667...120,003,611
Ensembl chr20:119,990,133...120,002,950

G

5-methyltetrahydrofolate-homocysteine methyltransferase

CTD Direct Evidence: marker/mechanism

NCBI chr25:73,935,666...74,039,872
Ensembl chr25:73,935,225...74,038,741

G

MYD88 innate immune signal transduction adaptor

CTD Direct Evidence: marker/mechanism

NCBI chr15:1,276,804...1,281,811
Ensembl chr15:1,276,798...1,281,166

G

retinoic acid receptor responder 1

OMIM:151430

NCBI chr15:32,112,118...32,148,808
Ensembl chr15:32,112,205...32,148,055

G

Ras related GTP binding C

CTD Direct Evidence: marker/mechanism

NCBI chr20:94,030,875...94,051,776
Ensembl chr20:94,030,961...94,053,653

G

TNF alpha induced protein 3

CTD Direct Evidence: marker/mechanism

NCBI chr13:35,537,103...35,553,396
Ensembl chr13:35,537,102...35,549,197

G

thymidylate synthetase

CTD Direct Evidence: marker/mechanism

NCBI chr18:60,030,640...60,043,297
Ensembl chr18:60,030,658...60,041,856

hereditary neutrophilia

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

colony stimulating factor 3 receptor

ClinVar Annotator: match by term: Hereditary neutrophilia

PMID:12203110 PMID:19620628 PMID:24753537 PMID:25741868 PMID:26324699 More...

NCBI chr20:96,380,798...96,397,745
Ensembl chr20:96,384,222...96,398,618

hyper IgE recurrent infection syndrome 1

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

caveolae associated protein 1

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

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

G

interleukin 4 receptor

no_association

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

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

G

interleukin 6 cytokine family signal transducer

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

PMID:25741868 PMID:32207811

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

G

signal transducer and activator of transcription 5B

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

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

G

signal transducer and activator of transcription 3

ClinVar Annotator: match by term: Autosomal Dominant Hyper IgE Syndrome | ClinVar Annotator: match by term: HYPER-IgE SYNDROME 1, AUTOSOMAL DOMINANT, WITH RECURRENT INFECTIONS | ClinVar Annotator: match by term: Hyper-IgE recurrent infection syndrome 1, autosomal dominant | ClinVar Annotator: match by term: Job syndrome

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

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

G

signal transducer and activator of transcription 5A

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

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

hyper IgE recurrent infection syndrome 2

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

coiled-coil domain 40 molecular ruler complex subunit

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

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

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

G

dedicator of cytokinesis 8

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

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

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

G

KN motif and ankyrin repeat domains 1

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

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

G

Zn regulated GTPase metalloprotein activator 1A

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

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

hyper IgE recurrent infection syndrome 3

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

zinc finger protein 341

ClinVar Annotator: match by term: HYPER-IgE SYNDROME 3, AUTOSOMAL RECESSIVE, WITH RECURRENT INFECTIONS | ClinVar Annotator: match by term: Hyper-IgE recurrent infection syndrome 3, autosomal recessive

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

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

hyper IgE recurrent infection syndrome 4

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

interleukin 6 cytokine family signal transducer

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

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

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

hyper IgE syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

coiled-coil domain 40 molecular ruler complex subunit

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

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

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

G

doublesex and mab-3 related transcription factor 1

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

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

G

dedicator of cytokinesis 8

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

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

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

G

DOP1 leucine zipper like protein A

ClinVar Annotator: match by term: Hyper-IgE syndrome

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

G

interferon gamma

CTD Direct Evidence: marker/mechanism

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

G

KN motif and ankyrin repeat domains 1

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

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

G

phosphoglucomutase 3

ClinVar Annotator: match by term: Hyper-IgE syndrome

PMID:3500672 PMID:24698316

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

G

signal transducer and activator of transcription 3

ClinVar Annotator: match by term: Hyper-IgE syndrome

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

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

G

Zn regulated GTPase metalloprotein activator 1A

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

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

Hyper-IgE Recurrent Infection Syndrome 5

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

interleukin 6 receptor

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

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

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

Hyper-IgE Recurrent Infection Syndrome 6

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

signal transducer and activator of transcription 6

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

PMID:36884218 PMID:37316763

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

hypereosinophilic syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

coagulation factor V

NCBI chr25:59,465,610...59,539,022
Ensembl chr25:59,466,378...59,538,872

G

factor interacting with PAPOLA and CPSF1

CTD Direct Evidence: marker/mechanism

PMID:16778211 PMID:28347583 PMID:31036733

NCBI chr 7:15,072,962...15,147,216
Ensembl chr 7:15,069,470...15,147,178

G

platelet derived growth factor receptor alpha

ClinVar Annotator: match by term: Hypereosinophilic syndrome, idiopathic, resistant to imatinib | ClinVar Annotator: match by term: Idiopathic hypereosinophilic syndrome

PMID:9536098 PMID:12660384 PMID:17576681 PMID:20071345 PMID:20169295 More...

NCBI chr 7:14,243,291...14,307,373
Ensembl chr 7:14,241,070...14,307,422

G

TNF superfamily member 8

CTD Direct Evidence: marker/mechanism

NCBI chr12:24,646,797...24,684,341
Ensembl chr12:24,647,412...24,678,466

ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

claudin 1

ClinVar Annotator: match by term: CLDN1-related condition | ClinVar Annotator: match by term: Neonatal ichthyosis-sclerosing cholangitis syndrome

PMID:12164927 PMID:15521008 PMID:16619213 PMID:25741868 PMID:28492532

NCBI chr15:84,518,464...84,533,587
Ensembl chr15:84,516,478...84,532,969

G

claudin 16

ClinVar Annotator: match by term: CLDN1-related condition | ClinVar Annotator: match by term: Neonatal ichthyosis-sclerosing cholangitis syndrome

PMID:12164927 PMID:15521008 PMID:16619213 PMID:25741868 PMID:28492532

NCBI chr15:84,529,660...84,619,707
Ensembl chr15:84,593,857...84,619,660

idiopathic CD4-positive T-lymphocytopenia

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

unc-119 lipid binding chaperone

ClinVar Annotator: match by term: IDIOPATHIC CD4 LYMPHOPENIA

PMID:22184408 PMID:24033266 PMID:25741868 PMID:28492532

NCBI chr16:22,315,900...22,321,806

IMMUNODEFICIENCY 100 WITH PULMONARY ALVEOLAR PROTEINOSIS AND HYPOGAMMAGLOBULINEMIA

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

2'-5'-oligoadenylate synthetase 1

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

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

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

IMMUNODEFICIENCY 108 WITH AUTOINFLAMMATION

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

CCAAT enhancer binding protein epsilon

ClinVar Annotator: match by term: CEBPE-related condition | ClinVar Annotator: match by term: Pelger-Huet-like anomaly and episodic fever with abdominal pain

PMID:4831644 PMID:25741868 PMID:28492532 PMID:31201888

NCBI chr29:23,485,966...23,488,615
Ensembl chr29:23,486,148...23,487,755

immunodeficiency 32B

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

forkhead box C2

ClinVar Annotator: match by term: Immunodeficiency 32B

NCBI chr 5:71,951,980...71,955,021
Ensembl chr 5:71,952,632...71,954,134

G

forkhead box F1

ClinVar Annotator: match by term: Immunodeficiency 32B

NCBI chr 5:71,898,473...71,902,624
Ensembl chr 5:71,898,786...71,903,661

G

interferon regulatory factor 8

ClinVar Annotator: match by term: Immunodeficiency 32B

PMID:6279813 PMID:9536098 PMID:16199547 PMID:17576681 PMID:21524210 More...

NCBI chr 5:71,301,878...71,325,622
Ensembl chr 5:71,302,233...71,325,613

G

methenyltetrahydrofolate synthetase domain containing

ClinVar Annotator: match by term: Immunodeficiency 32B

NCBI chr 5:71,915,431...71,941,989
Ensembl chr 5:71,917,268...71,938,962

immunodeficiency 34

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

cytochrome b-245 heavy chain

ClinVar Annotator: match by term: X-linked Mendelian susceptibility to mycobacterial diseases due to CYBB deficiency

PMID:8634410 PMID:8655140 PMID:8900212 PMID:8916969 PMID:9536098 More...

immunodeficiency 35

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

adaptor related protein complex 1 subunit mu 2

ClinVar Annotator: match by term: Immunodeficiency 35

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

G

autophagy related 4D cysteine peptidase

ClinVar Annotator: match by term: Immunodeficiency 35

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

G

cell division cycle 37, HSP90 cochaperone

ClinVar Annotator: match by term: Immunodeficiency 35

PMID:22402565 PMID:26304966 PMID:28492532

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

G

cyclin dependent kinase inhibitor 2D

ClinVar Annotator: match by term: Immunodeficiency 35

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

G

dynamin 2

ClinVar Annotator: match by term: Immunodeficiency 35

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

G

DNA methyltransferase 1

ClinVar Annotator: match by term: Immunodeficiency 35

PMID:22402565 PMID:26304966 PMID:28492532

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

G

ferredoxin 2

ClinVar Annotator: match by term: Immunodeficiency 35

PMID:22402565 PMID:26304966 PMID:28492532

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

G

intercellular adhesion molecule 1

ClinVar Annotator: match by term: Immunodeficiency 35

PMID:22402565 PMID:26304966 PMID:28492532

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

G

intercellular adhesion molecule 3

ClinVar Annotator: match by term: Immunodeficiency 35

PMID:22402565 PMID:26304966 PMID:28492532

G

intercellular adhesion molecule 4 (Landsteiner-Wiener blood group)

ClinVar Annotator: match by term: Immunodeficiency 35

PMID:22402565 PMID:26304966 PMID:28492532

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

G

intercellular adhesion molecule 5

ClinVar Annotator: match by term: Immunodeficiency 35

PMID:22402565 PMID:26304966 PMID:28492532

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

G

interleukin enhancer binding factor 3

ClinVar Annotator: match by term: Immunodeficiency 35

NCBI chr 6:9,654,632...9,692,202
Ensembl chr 6:9,672,453...9,686,793

G

kelch like ECH associated protein 1

ClinVar Annotator: match by term: Immunodeficiency 35

PMID:22402565 PMID:26304966 PMID:28492532

NCBI chr 6:9,515,789...9,526,699
Ensembl chr 6:9,515,416...9,522,797

G

KRI1 homolog

ClinVar Annotator: match by term: Immunodeficiency 35

NCBI chr 6:9,564,977...9,579,267
Ensembl chr 6:9,562,857...9,574,360

G

mitochondrial ribosomal protein L4

ClinVar Annotator: match by term: Immunodeficiency 35

PMID:22402565 PMID:26304966 PMID:28492532

NCBI chr 6:9,304,882...9,314,215
Ensembl chr 6:9,304,913...9,314,220

G

phosphodiesterase 4A

ClinVar Annotator: match by term: Immunodeficiency 35

PMID:22402565 PMID:26304966 PMID:28492532

NCBI chr 6:9,455,471...9,503,809

G

queuine tRNA-ribosyltransferase catalytic subunit 1

ClinVar Annotator: match by term: Immunodeficiency 35

NCBI chr 6:9,704,002...9,709,990
Ensembl chr 6:9,704,037...9,710,071

G

ribonucleoprotein, PTB binding 1

ClinVar Annotator: match by term: Immunodeficiency 35

PMID:22402565 PMID:26304966 PMID:28492532

NCBI chr 6:9,364,903...9,387,874
Ensembl chr 6:9,366,151...9,383,633

G

sphingosine-1-phosphate receptor 2

ClinVar Annotator: match by term: Immunodeficiency 35

PMID:22402565 PMID:26304966 PMID:28492532

NCBI chr 6:9,281,130...9,291,705
Ensembl chr 6:9,283,529...9,284,590

G

sphingosine-1-phosphate receptor 5

ClinVar Annotator: match by term: Immunodeficiency 35

NCBI chr 6:9,537,083...9,542,610
Ensembl chr 6:9,538,156...9,539,352

G

solute carrier family 44 member 2 (CTL2 blood group)

ClinVar Annotator: match by term: Immunodeficiency 35

NCBI chr 6:9,607,224...9,646,535
Ensembl chr 6:9,630,113...9,646,389

G

tyrosine kinase 2

ClinVar Annotator: match by term: Immunodeficiency 35 | ClinVar Annotator: match by term: Susceptibility to infection due to TYK2 deficiency | ClinVar Annotator: match by term: TYK2 DEFICIENCY

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

NCBI chr 6:9,399,945...9,420,054
Ensembl chr 6:9,399,775...9,417,630

G

zinc finger GATA like protein 1

ClinVar Annotator: match by term: Immunodeficiency 35

PMID:22402565 PMID:26304966 PMID:28492532

NCBI chr 6:9,353,883...9,359,187
Ensembl chr 6:9,353,859...9,357,927

immunodeficiency 59

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

hypoxia up-regulated 1

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

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

NCBI chr 1:110,418,497...110,431,636
Ensembl chr 1:110,417,942...110,431,590

immunodeficiency 71

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

actin related protein 2/3 complex subunit 1B

ClinVar Annotator: match by term: ARPC1B-related condition | ClinVar Annotator: match by term: Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease

PMID:9536098 PMID:16019263 PMID:16199547 PMID:17576681 PMID:25741868 More...

NCBI chr28:13,764,637...13,780,317

infectious mononucleosis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

Fas ligand

protein:increased expression:lymphocyte, serum:

NCBI chr25:56,488,572...56,496,469
Ensembl chr25:56,489,417...56,496,251

G

forkhead box P3

disease_progression

NCBI chr X:46,349,890...46,365,133

G

interleukin 27

protein:increased expression:blood serum (human)

NCBI chr 5:26,348,559...26,358,028
Ensembl chr 5:26,348,848...26,356,360

G

glutathione S-transferase Mu 1

susceptibility

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

G

superoxide dismutase 2

NCBI chr13:87,284,537...87,297,998
Ensembl chr13:87,280,686...87,297,974

JOINT CONTRACTURES, OSTEOCHONDROMAS, AND B-CELL LYMPHOMA

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

nuclear factor of activated T cells 2

NCBI chr 2:12,412,935...12,585,275
Ensembl chr 2:12,430,744...12,540,131

Lazy Leukocyte Syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

WD repeat domain 1

ClinVar Annotator: match by term: Lazy leukocyte syndrome | ClinVar Annotator: match by term: WDR1-related condition

PMID:205284 PMID:25741868 PMID:27557945 PMID:27994071 PMID:28492532 More...

NCBI chr27:39,929,749...39,973,892
Ensembl chr27:39,929,787...39,974,012

Leukemoid Reaction

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

Janus kinase 3

ClinVar Annotator: match by term: Leukemoid reaction

PMID:18397343 PMID:20400977 PMID:28492532

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

leukocyte adhesion deficiency

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

FERM domain containing kindlin 3

ClinVar Annotator: match by term: Leukocyte adhesion deficiency

PMID:25741868 PMID:28492532

NCBI chr 1:10,012,007...10,031,177
Ensembl chr 1:10,009,626...10,031,209

G

integrin subunit beta 2

ClinVar Annotator: match by term: Leukocyte adhesion deficiency

NCBI chr 2:88,597,554...88,644,890
Ensembl chr 2:88,597,556...88,624,025

leukocyte adhesion deficiency 1

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

dicer 1, ribonuclease III

ClinVar Annotator: match by term: Lymphocyte function-associated antigen 1 immunodeficiency

PMID:19556464 PMID:25741868 PMID:26639818 PMID:26925222

NCBI chr24:72,915,550...72,986,658
Ensembl chr24:72,915,499...72,963,006

G

FERM domain containing kindlin 3

DNA:nonsense mutations:exon:p.R509X, p.R573X, p.W229X (human)

NCBI chr 1:10,012,007...10,031,177
Ensembl chr 1:10,009,626...10,031,209

G

integrin subunit beta 2

susceptibility

ClinVar Annotator: match by term: Leukocyte adhesion deficiency 1
DNA:polymorphisms:multiple (human)

OMIM
ClinVar
RGD

PMID:1346132 PMID:1346613 PMID:1347532 PMID:1590804 PMID:1694220 More...

NCBI chr 2:88,597,554...88,644,890
Ensembl chr 2:88,597,556...88,624,025

G

titin

ClinVar Annotator: match by term: LEUKOCYTE ADHESION DEFICIENCY, TYPE I

PMID:9536098 PMID:17576681 PMID:25589632 PMID:26639818 PMID:27493940 More...

NCBI chr10:64,074,994...64,379,055
Ensembl chr10:64,076,021...64,347,205

leukocyte adhesion deficiency 3

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

AHNAK nucleoprotein

ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3

NCBI chr 1:11,352,848...11,384,944

G

ARF like GTPase 2

ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3

NCBI chr 1:9,212,903...9,219,985
Ensembl chr 1:9,213,123...9,219,927

G

asparaginase and isoaspartyl peptidase 1

ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3

NCBI chr 1:11,503,137...11,529,745
Ensembl chr 1:11,502,578...11,529,598

G

autophagy related 2A

ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3

NCBI chr 1:9,316,567...9,339,244
Ensembl chr 1:9,316,675...9,339,265

G

atlastin GTPase 3

ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3

NCBI chr 1:10,569,052...10,611,518
Ensembl chr 1:10,569,235...10,611,323

G

beta-1,3-glucuronyltransferase 3

ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3

NCBI chr 1:11,282,414...11,289,640
Ensembl chr 1:11,282,601...11,289,743

G

BCL2 associated agonist of cell death

ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3

NCBI chr 1:9,949,717...9,964,433
Ensembl chr 1:9,949,762...9,964,432

G

basic leucine zipper ATF-like transcription factor 2

ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3

NCBI chr 1:9,220,087...9,248,964
Ensembl chr 1:9,239,938...9,248,971

G

bestrophin 1

ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3

NCBI chr 1:11,841,052...11,857,694
Ensembl chr 1:11,837,837...11,857,233

G

BSCL2 lipid droplet biogenesis associated, seipin

ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3

NCBI chr 1:11,198,033...11,216,709
Ensembl chr 1:11,200,356...11,216,622

G

calpain 1

ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3

NCBI chr 1:9,014,087...9,050,389
Ensembl chr 1:9,014,084...9,049,804

G

catsper channel auxiliary subunit zeta

ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3

NCBI chr 1:9,930,186...9,934,024
Ensembl chr 1:9,930,312...9,933,909

G

cobalamin binding intrinsic factor

ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3

NCBI chr 1:13,833,762...13,849,727
Ensembl chr 1:13,834,330...13,849,516

G

coiled-coil domain containing 86

ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3

NCBI chr 1:12,994,892...13,004,134
Ensembl chr 1:12,992,953...13,004,029

G

coiled-coil domain containing 88B

ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3

G

CD5 molecule

ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3

NCBI chr 1:12,720,004...12,747,637
Ensembl chr 1:12,719,333...12,746,960

G

CD6 molecule

ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3

NCBI chr 1:12,827,238...12,878,304
Ensembl chr 1:12,828,285...12,877,704

G

CDC42 binding protein kinase gamma

ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3

NCBI chr 1:9,390,874...9,411,503
Ensembl chr 1:9,390,825...9,412,697

G

cell division cycle associated 5

ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3

NCBI chr 1:9,151,503...9,157,412
Ensembl chr 1:9,151,712...9,157,456

G

cholinergic receptor muscarinic 1

ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3

NCBI chr 1:10,978,464...10,991,650
Ensembl chr 1:10,989,207...10,990,589

G

cleavage and polyadenylation specific factor 7

ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3

NCBI chr 1:12,417,452...12,445,984
Ensembl chr 1:12,417,490...12,446,527

G

citrate synthase lysine methyltransferase

ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3

NCBI chr 1:11,239,715...11,241,457
Ensembl chr 1:11,239,735...11,241,442

G

diacylglycerol lipase alpha

ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3

NCBI chr 1:12,110,100...12,175,935
Ensembl chr 1:12,108,810...12,136,105

G

damage specific DNA binding protein 1

ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3

NCBI chr 1:12,508,712...12,543,127
Ensembl chr 1:12,508,443...12,544,913

G

DnaJ heat shock protein family (Hsp40) member C4

ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3

NCBI chr 1:10,001,620...10,005,952
Ensembl chr 1:10,001,871...10,005,237

G

deltex E3 ubiquitin ligase 4

ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3

NCBI chr 1:14,354,752...14,390,630
Ensembl chr 1:14,358,001...14,390,239

G

eukaryotic translation elongation factor 1 gamma

ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3

NCBI chr 1:11,326,977...11,339,373
Ensembl chr 1:11,326,969...11,339,439

G

EH domain containing 1

ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3

NCBI chr 1:9,356,128...9,382,204
Ensembl chr 1:9,356,177...9,382,832

G

EMAP like 3

ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3

NCBI chr 1:11,292,181...11,302,723
Ensembl chr 1:11,292,202...11,302,472

G

estrogen related receptor alpha

ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3

NCBI chr 1:9,918,741...9,929,481
Ensembl chr 1:9,917,436...9,929,450

G

fatty acid desaturase 1

ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3

NCBI chr 1:12,037,173...12,051,907
Ensembl chr 1:12,037,513...12,055,159

G

fatty acid desaturase 2

ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3

NCBI chr 1:11,934,352...11,978,355
Ensembl chr 1:11,934,270...11,974,030

G

fatty acid desaturase 3

ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3

NCBI chr 1:11,910,344...11,928,634
Ensembl chr 1:11,910,318...11,928,682

G

FAM111 trypsin like peptidase A

ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3

NCBI chr 1:14,405,991...14,412,170

G

FAU ubiquitin like and ribosomal protein S30 fusion

ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3

NCBI chr 1:9,106,708...9,108,284
Ensembl chr 1:9,106,252...9,109,304

G

flap structure-specific endonuclease 1

ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3

NCBI chr 1:12,057,620...12,062,185

G

FERM domain containing kindlin 3

ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3

PMID:9536098 PMID:12511588 PMID:16199547 PMID:17576681 PMID:18779414 More...

NCBI chr 1:10,012,007...10,031,177
Ensembl chr 1:10,009,626...10,031,209

G

FKBP prolyl isomerase 2

ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3

Ensembl chr 1:9,992,149...9,994,012

G

fibronectin leucine rich transmembrane protein 1

ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3

NCBI chr 1:10,120,931...10,205,351
Ensembl chr 1:10,121,823...10,123,844

G

ferritin heavy chain 1

ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3

NCBI chr 1:11,837,533...11,840,926

G

glucosidase II alpha subunit

ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3

NCBI chr 1:11,257,867...11,279,534
Ensembl chr 1:11,257,935...11,281,111

G

G protein subunit gamma 3

ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3

NCBI chr 1:11,198,347...11,199,952
Ensembl chr 1:11,198,738...11,199,242

G

glycoprotein hormone subunit alpha 2

ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3

NCBI chr 1:9,296,826...9,299,612
Ensembl chr 1:9,298,621...9,299,309

G

G protein-coupled receptor 137

ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3

NCBI chr 1:9,944,971...9,949,623
Ensembl chr 1:9,944,579...9,949,624

G

heterogeneous nuclear ribonucleoprotein U like 2

ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3

NCBI chr 1:11,179,711...11,194,995
Ensembl chr 1:11,179,728...11,195,178

G

inner centromere protein

ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3

NCBI chr 1:11,695,803...11,725,633
Ensembl chr 1:11,692,559...11,720,940

G

integrator complex subunit 5

ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3

NCBI chr 1:11,251,920...11,257,686
Ensembl chr 1:11,251,991...11,257,520

G

integrin subunit beta 2

ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3

NCBI chr 2:88,597,554...88,644,890
Ensembl chr 2:88,597,556...88,624,025

G

potassium two pore domain channel subfamily K member 4

ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3

NCBI chr 1:9,934,174...9,942,815
Ensembl chr 1:9,934,597...9,941,609

G

LBH domain containing 1

ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3

NCBI chr 1:11,236,763...11,239,586

G

galectin 12

ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3

NCBI chr 1:10,741,778...10,762,043
Ensembl chr 1:10,745,373...10,761,684

G

ribosomal protein S6 kinase alpha-4

ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3

NCBI chr 1:9,860,403...9,874,440
Ensembl chr 1:9,860,290...9,874,374

G

cytochrome c oxidase subunit 8A, mitochondrial

ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3

NCBI chr 1:10,269,020...10,271,484
Ensembl chr 1:10,269,021...10,271,175

G

ubiquinol-cytochrome-c reductase complex assembly factor 3

ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3

NCBI chr 1:11,234,810...11,235,569
Ensembl chr 1:11,235,023...11,235,492

G

cytochrome b ascorbate-dependent protein 3

ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3

NCBI chr 1:12,480,222...12,493,219
Ensembl chr 1:12,484,551...12,491,755

G

membrane-spanning 4-domains subfamily A member 6A

ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3

NCBI chr 1:13,619,459...13,631,727
Ensembl chr 1:13,619,567...13,631,583

G

olfactory receptor 4D10

ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3

NCBI chr 1:14,114,798...14,117,607
Ensembl chr 1:14,116,041...14,116,958

G

olfactory receptor 4D11

ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3

NCBI chr 1:14,103,113...14,105,098
Ensembl chr 1:14,103,197...14,104,298

G

olfactory receptor 4D9

ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3

NCBI chr 1:14,087,060...14,122,985
Ensembl chr 1:14,087,468...14,088,409

G

olfactory receptor 4D6

ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3

NCBI chr 1:14,132,336...14,135,045

G

olfactory receptor 5A1

ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3

NCBI chr 1:14,148,842...14,150,318
Ensembl chr 1:14,149,074...14,150,021

G

olfactory receptor 5A2

ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3

NCBI chr 1:14,169,497...14,171,399
Ensembl chr 1:14,169,801...14,170,775

G

leucine rich repeat containing 10B

ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3

NCBI chr 1:12,335,838...12,338,048
Ensembl chr 1:12,336,980...12,337,855

G

LRRN4 C-terminal like

ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3

NCBI chr 1:11,216,797...11,219,438
Ensembl chr 1:11,218,434...11,219,150

G

mono-ADP ribosylhydrolase 1

ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3

NCBI chr 1:10,072,238...10,247,121
Ensembl chr 1:10,072,263...10,250,203

G

membrane anchored junction protein

ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3

NCBI chr 1:9,260,903...9,295,888
Ensembl chr 1:9,275,234...9,295,590

G

mitogen-activated protein kinase kinase kinase kinase 2

ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3

NCBI chr 1:9,437,953...9,449,539
Ensembl chr 1:9,437,962...9,451,818

G

microtubule affinity regulating kinase 2

ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3

NCBI chr 1:10,336,690...10,410,539
Ensembl chr 1:10,336,639...10,409,951

G

menin 1

ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3

NCBI chr 1:9,423,885...9,431,123
Ensembl chr 1:9,423,917...9,431,104

G

mitochondrial ribosomal protein L16

ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3

NCBI chr 1:13,860,997...13,865,714
Ensembl chr 1:13,861,207...13,865,500

G

mitochondrial ribosomal protein L49

ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3

NCBI chr 1:9,102,593...9,106,600

G

membrane spanning 4-domains A1

ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3

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

G

membrane spanning 4-domains A10

ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3

NCBI chr 1:13,029,154...13,051,109
Ensembl chr 1:13,036,412...13,045,225

G

membrane spanning 4-domains A12

ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3

NCBI chr 1:13,310,568...13,326,493
Ensembl chr 1:13,311,212...13,326,211

G

membrane spanning 4-domains A13

ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3

NCBI chr 1:13,281,867...13,306,736
Ensembl chr 1:13,282,022...13,299,227

G

membrane spanning 4-domains A14

ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3

NCBI chr 1:13,384,442...13,408,540

G

membrane spanning 4-domains A15

ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3

NCBI chr 1:13,061,545...13,073,392
Ensembl chr 1:13,061,584...13,073,280

G

membrane spanning 4-domains A18

ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3

NCBI chr 1:13,088,276...13,110,747
Ensembl chr 1:13,088,942...13,105,243

G

membrane spanning 4-domains A2

ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3

NCBI chr 1:13,657,842...13,666,314
Ensembl chr 1:13,654,696...13,665,925

G

membrane spanning 4-domains A5

ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3

NCBI chr 1:13,364,914...13,377,851
Ensembl chr 1:13,364,950...13,377,446

G

membrane spanning 4-domains A7

ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3

NCBI chr 1:13,410,442...13,427,179
Ensembl chr 1:13,409,831...13,427,085

G

membrane spanning 4-domains A8

ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3

NCBI chr 1:13,125,146...13,140,500
Ensembl chr 1:13,123,461...13,140,309

G

metastasis associated 1 family member 2

ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3

NCBI chr 1:11,303,145...11,311,792
Ensembl chr 1:11,303,494...11,311,379

G

myelin regulatory factor

ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3

NCBI chr 1:12,066,277...12,103,091

G

N-alpha-acetyltransferase 40, NatD catalytic subunit

ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3

NCBI chr 1:10,289,015...10,307,909
Ensembl chr 1:10,288,266...10,307,932

G

N-acetylated alpha-linked acidic dipeptidase like 1

ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3

NCBI chr 1:9,175,615...9,189,586
Ensembl chr 1:9,175,499...9,193,142

G

neurexin 2

ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3

NCBI chr 1:9,522,501...9,629,799
Ensembl chr 1:9,522,778...9,629,828

G

nudix hydrolase 22

ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3

NCBI chr 1:10,006,096...10,009,529
Ensembl chr 1:10,006,122...10,009,514

G

nuclear RNA export factor 1

ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3

NCBI chr 1:11,096,289...11,111,186
Ensembl chr 1:11,096,323...11,111,632

G

oocyte secreted protein 2

ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3

NCBI chr 1:13,693,512...13,702,608

G

oxysterol binding protein

ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3

NCBI chr 1:14,009,735...14,053,232
Ensembl chr 1:14,010,020...14,051,605

G

OTU deubiquitinase, ubiquitin aldehyde binding 1

ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3

NCBI chr 1:10,247,260...10,271,026

G

PAT1 homolog 1, processing body mRNA decay factor

ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3

NCBI chr 1:13,955,730...13,989,364
Ensembl chr 1:13,957,050...13,988,488

G

phospholipase A and acyltransferase 2

ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3

NCBI chr 1:10,674,174...10,690,323
Ensembl chr 1:10,678,050...10,690,129

G

phospholipase A and acyltransferase 3

ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3

NCBI chr 1:10,632,342...10,660,757

G

phospholipase A and acyltransferase 4

ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3

NCBI chr 1:10,695,127...10,704,564
Ensembl chr 1:10,692,839...10,704,649

G

phospholipase A and acyltransferase 5

ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3

NCBI chr 1:10,774,797...10,805,148
Ensembl chr 1:10,775,400...10,804,423

G

phospholipase C beta 3

ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3

NCBI chr 1:9,964,850...9,982,573
Ensembl chr 1:9,966,618...9,982,317

G

RNA polymerase II subunit G

ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3

NCBI chr 1:11,140,897...11,150,879
Ensembl chr 1:11,140,867...11,150,882

G

protein phosphatase 1 regulatory inhibitor subunit 14B

ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3

NCBI chr 1:9,989,540...9,991,940
Ensembl chr 1:9,989,030...9,992,088

G

protein phosphatase 2 regulatory subunit B'beta

ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3

NCBI chr 1:9,299,609...9,309,357
Ensembl chr 1:9,299,160...9,309,335

G

peroxiredoxin 5

ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3

NCBI chr 1:9,912,947...9,917,439
Ensembl chr 1:9,912,898...9,917,361

G

pre-mRNA processing factor 19

ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3

NCBI chr 1:12,942,238...12,958,853
Ensembl chr 1:12,942,213...12,959,947

G

prostaglandin D2 receptor 2

ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3

NCBI chr 1:12,989,750...12,994,979
Ensembl chr 1:12,992,188...12,993,378

G

glycogen phosphorylase, muscle associated

ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3

NCBI chr 1:9,474,539...9,490,612
Ensembl chr 1:9,475,622...9,491,500

G

RAB3A interacting protein like 1

ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3

NCBI chr 1:11,861,197...11,904,612
Ensembl chr 1:11,893,661...11,904,616

G

RAS guanyl releasing protein 2

ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3

NCBI chr 1:9,483,557...9,508,920
Ensembl chr 1:9,492,624...9,508,912

G

REST corepressor 2

ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3

NCBI chr 1:10,330,137...10,336,485
Ensembl chr 1:10,330,387...10,336,469

G

retinal outer segment membrane protein 1

ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3

NCBI chr 1:11,289,819...11,292,200
Ensembl chr 1:11,289,818...11,291,890

G

reticulon 3

ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3

NCBI chr 1:10,485,943...10,559,725

G

SAC3 domain containing 1

ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3

NCBI chr 1:9,189,576...9,193,737

G

stabilizer of axonemal microtubules 4

ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3

NCBI chr 1:12,363,484...12,373,223
Ensembl chr 1:12,363,843...12,372,272

G

secretoglobin family 1A member 1

ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3

NCBI chr 1:11,470,091...11,474,915
Ensembl chr 1:11,470,195...11,474,149

G

secretoglobin family 1D member 2

ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3

NCBI chr 1:11,628,868...11,633,617
Ensembl chr 1:11,628,983...11,632,703

G

secretoglobin family 1D member 4

ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3

NCBI chr 1:11,575,621...11,579,494

G

succinate dehydrogenase complex assembly factor 2

ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3

NCBI chr 1:12,401,164...12,417,389
Ensembl chr 1:12,398,920...12,417,383

G

splicing factor 1

ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3

NCBI chr 1:9,456,524...9,470,920
Ensembl chr 1:9,456,971...9,472,396

G

solute carrier family 15 member 3

ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3

NCBI chr 1:12,896,612...12,910,740
Ensembl chr 1:12,895,982...12,912,214

G

solute carrier family 22 member 11

ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3

NCBI chr 1:9,664,015...9,680,559
Ensembl chr 1:9,662,327...9,679,813

G

solute carrier family 22 member 12

ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3

NCBI chr 1:9,633,589...9,644,519
Ensembl chr 1:9,632,645...9,643,664

G

solute carrier family 22 member 6

ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3

NCBI chr 1:10,918,081...10,926,790
Ensembl chr 1:10,918,770...10,925,983

G

solute carrier family 22 member 8

ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3

NCBI chr 1:10,885,895...10,909,739
Ensembl chr 1:10,886,690...10,910,546

G

solute carrier family 3 member 2

ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3

NCBI chr 1:11,011,351...11,050,494
Ensembl chr 1:11,008,120...11,050,298

G

sorting nexin 15

ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3

NCBI chr 1:9,193,821...9,206,079
Ensembl chr 1:9,193,646...9,206,045

G

speedy/RINGO cell cycle regulator family member C

ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3

NCBI chr 1:9,057,110...9,093,558

G

spindlin interactor and repressor of chromatin binding

ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3

NCBI chr 1:10,422,142...10,437,460
Ensembl chr 1:10,428,432...10,437,287

G

stress induced phosphoprotein 1

ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3

NCBI chr 1:10,033,317...10,052,406

G

syntaxin 3

ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3

NCBI chr 1:13,866,853...13,916,803
Ensembl chr 1:13,874,526...13,916,997

G

syntaxin 5

ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3

NCBI chr 1:11,071,099...11,094,880
Ensembl chr 1:11,071,118...11,096,189

G

synaptotagmin 7

ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3

NCBI chr 1:12,267,591...12,333,181
Ensembl chr 1:12,267,685...12,333,185

G

synoviolin 1

ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3

NCBI chr 1:9,093,657...9,101,245
Ensembl chr 1:9,094,592...9,100,213

G

TATA-box binding protein associated factor 6 like

ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3

NCBI chr 1:11,115,862...11,138,703
Ensembl chr 1:11,115,907...11,138,739

G

transcobalamin 1

ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3

NCBI chr 1:13,813,374...13,828,906
Ensembl chr 1:13,813,835...13,827,905

G

triokinase and FMN cyclase

ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3

NCBI chr 1:12,495,058...12,508,693
Ensembl chr 1:12,495,477...12,507,927

G

transmembrane 7 superfamily member 2

ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3

NCBI chr 1:9,112,528...9,117,201
Ensembl chr 1:9,112,710...9,116,898

G

transmembrane protein 109

ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3

NCBI chr 1:12,924,736...12,934,755
Ensembl chr 1:12,924,606...12,934,810

G

transmembrane protein 132A

ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3

NCBI chr 1:12,910,668...12,923,946
Ensembl chr 1:12,910,280...12,923,718

G

transmembrane protein 138

ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3

NCBI chr 1:12,473,137...12,480,086
Ensembl chr 1:12,469,790...12,480,394

G

transmembrane protein 179B

ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3

NCBI chr 1:11,113,066...11,115,863
Ensembl chr 1:11,113,254...11,115,771

G

transmembrane protein 216

ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3

NCBI chr 1:12,448,760...12,455,997
Ensembl chr 1:12,448,438...12,455,327

G

transmembrane protein 223

ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3

NCBI chr 1:11,111,275...11,112,983
Ensembl chr 1:11,111,317...11,112,678

G

transmembrane protein 258

ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3

NCBI chr 1:12,062,209...12,065,660
Ensembl chr 1:12,062,215...12,065,659

G

tRNA methyltransferase activator subunit 11-2

ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3

NCBI chr 1:9,916,884...9,918,790

G

tRNA phosphotransferase 1

ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3

NCBI chr 1:10,009,559...10,012,005
Ensembl chr 1:10,009,706...10,011,958

G

tetratricopeptide repeat domain 9C

ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3

NCBI chr 1:11,166,185...11,178,935
Ensembl chr 1:11,165,910...11,179,138

G

terminal uridylyl transferase 1, U6 snRNA-specific

ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3

NCBI chr 1:11,313,208...11,325,912
Ensembl chr 1:11,312,843...11,326,777

G

UBX domain protein 1

ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3

NCBI chr 1:11,228,944...11,231,549
Ensembl chr 1:11,228,135...11,231,459

G

vascular endothelial growth factor B

ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3

NCBI chr 1:9,997,820...10,001,518
Ensembl chr 1:9,997,665...10,001,429

G

VPS37C subunit of ESCRT-I

ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3

NCBI chr 1:12,686,887...12,717,335
Ensembl chr 1:12,686,708...12,717,365

G

VPS51 subunit of GARP complex

ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3

NCBI chr 1:9,117,080...9,142,070
Ensembl chr 1:9,116,723...9,142,031

G

von Willebrand factor C and EGF domains

ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3

NCBI chr 1:12,546,241...12,583,963
Ensembl chr 1:12,547,220...12,583,577

G

WD repeat domain 74

ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3

NCBI chr 1:11,063,294...11,070,215
Ensembl chr 1:11,063,265...11,070,218

G

zinc finger and BTB domain containing 3

ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3

NCBI chr 1:11,157,966...11,160,582
Ensembl chr 1:11,158,409...11,164,749

G

zinc finger protein like 1

ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3

NCBI chr 1:9,147,190...9,151,350
Ensembl chr 1:9,146,129...9,151,440

G

zinc finger translocation associated

ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3

NCBI chr 1:10,477,832...10,484,860
Ensembl chr 1:10,477,938...10,483,159

G

zinc finger HIT-type containing 2

ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3

NCBI chr 1:9,110,533...9,112,359
Ensembl chr 1:9,111,106...9,112,320

G

zona pellucida glycoprotein 1

ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3

NCBI chr 1:12,969,406...12,979,231
Ensembl chr 1:12,969,439...12,978,545

Leukocytosis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

APC regulator of WNT signaling pathway

CTD Direct Evidence: marker/mechanism

NCBI chr23:15,992,437...16,135,117
Ensembl chr23:16,042,287...16,137,067

G

colony stimulating factor 3

associated with neoplasms;

NCBI chr16:66,162,814...66,166,192
Ensembl chr16:66,163,681...66,165,172

G

colony stimulating factor 3 receptor

CTD Direct Evidence: marker/mechanism

NCBI chr20:96,380,798...96,397,745
Ensembl chr20:96,384,222...96,398,618

G

fms related receptor tyrosine kinase 3

CTD Direct Evidence: marker/mechanism

PMID:27099147 PMID:27725143

NCBI chr 3:7,117,579...7,222,600
Ensembl chr 3:7,116,947...7,222,849

G

interleukin 1 beta

CTD Direct Evidence: marker/mechanism

PMID:1581467 PMID:1884014 PMID:19633061

RGD:10450884 RGD:4142837

NCBI chr14:15,844,628...15,852,652
Ensembl chr14:15,844,672...15,850,729

G

interleukin 1 receptor antagonist

associated with Meningitis, Listeria;

NCBI chr14:16,136,667...16,152,451
Ensembl chr14:16,146,333...16,151,326

G

integrin subunit alpha 4

NCBI chr10:66,984,687...67,063,158
Ensembl chr10:66,984,887...67,061,636

G

KRAS proto-oncogene, GTPase

CTD Direct Evidence: marker/mechanism

NCBI chr11:24,963,396...25,010,747
Ensembl chr11:24,973,619...25,005,191

G

neuropeptide Y receptor Y5

NCBI chr 7:109,790,907...109,801,929

G

NRAS proto-oncogene, GTPase

CTD Direct Evidence: marker/mechanism

NCBI chr20:18,953,273...18,966,002
Ensembl chr20:18,953,883...18,961,931

leukopenia

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

asparaginase

CTD Direct Evidence: marker/mechanism

NCBI chr24:82,021,590...82,049,281
Ensembl chr24:82,021,726...82,049,355

G

colony stimulating factor 3

CTD Direct Evidence: marker/mechanism|therapeutic

PMID:7543699 PMID:16076697 PMID:16120623 PMID:16937080

NCBI chr16:66,162,814...66,166,192
Ensembl chr16:66,163,681...66,165,172

G

C-X-C motif chemokine receptor 4

treatment

associated with WHIM Syndrome; DNA:nonsense mutation: cds:p.R334X(human)

NCBI chr10:20,336,470...20,340,308
Ensembl chr10:20,336,247...20,340,309

G

interferon alpha 2

CTD Direct Evidence: marker/mechanism

PMID:3298131 PMID:3597002 PMID:8886046 PMID:10520005 PMID:12620292

NCBI chr12:58,468,018...58,469,825

G

interleukin 2

CTD Direct Evidence: therapeutic

NCBI chr 7:69,729,635...69,736,279
Ensembl chr 7:69,730,282...69,734,969

G

interleukin 3

CTD Direct Evidence: therapeutic

NCBI chr23:34,894,630...34,899,105

G

glutathione S-transferase Mu 1

susceptibility

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

G

methylenetetrahydrofolate reductase

CTD Direct Evidence: marker/mechanism

NCBI chr20:119,987,667...120,003,611
Ensembl chr20:119,990,133...120,002,950

G

N-acetyltransferase 2

CTD Direct Evidence: marker/mechanism

NCBI chr 8:16,451,144...16,494,961
Ensembl chr 8:16,493,749...16,494,621

G

nudix hydrolase 15

NCBI chr 3:25,966,148...25,974,143
Ensembl chr 3:25,966,876...25,973,647

G

plasminogen activator, tissue type

associated with Sepsis;protein:decreased expression:plasma (human)

NCBI chr 8:40,164,391...40,196,627
Ensembl chr 8:40,163,891...40,196,555

G

THO complex subunit 5

NCBI chr19:12,386,742...12,427,980
Ensembl chr19:12,385,431...12,427,090

G

thiopurine S-methyltransferase

no_association

DNA:polymorphisms: :multiple
DNA:SNP:exon:719A>G (human)
CTD Direct Evidence: marker/mechanism

PMID:16044099 PMID:18662289 PMID:20308917 PMID:22535280 PMID:24322830 More...

RGD:11038721 RGD:11038725 RGD:11038727

NCBI chr17:53,987,561...54,012,647
Ensembl chr17:53,987,559...54,014,650

leukostasis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

high mobility group box 1

CTD Direct Evidence: marker/mechanism

NCBI chr 3:9,353,333...9,357,765

G

intercellular adhesion molecule 1

CTD Direct Evidence: marker/mechanism

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

G

peroxisome proliferator activated receptor gamma

CTD Direct Evidence: therapeutic

NCBI chr22:48,262,743...48,407,415
Ensembl chr22:48,275,600...48,407,418

G

serpin family F member 1

treatment

associated with Diabetic Retinopathy; human protein in a rat model

NCBI chr16:1,408,453...1,424,197

Lymphoma, AIDS-Related

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

activation induced cytidine deaminase

disease_progression

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

G

colony stimulating factor 2

CTD Direct Evidence: therapeutic

PMID:7680712 PMID:9817281

NCBI chr23:34,906,987...34,911,252
Ensembl chr23:34,908,911...34,911,140

G

colony stimulating factor 3

CTD Direct Evidence: therapeutic

NCBI chr16:66,162,814...66,166,192
Ensembl chr16:66,163,681...66,165,172

G

syndecan 1

protein:altered expression:tumor (human)

NCBI chr14:87,499,732...87,523,122
Ensembl chr14:87,499,574...87,525,026

G

transferrin receptor

treatment

NCBI chr15:91,102,153...91,134,994
Ensembl chr15:91,102,817...91,135,584

lymphopenia

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

adenosine deaminase

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

G

autophagy related 5

CTD Direct Evidence: marker/mechanism

NCBI chr13:67,482,538...67,619,201
Ensembl chr13:67,482,595...67,617,902

G

autophagy related 7

CTD Direct Evidence: marker/mechanism

NCBI chr22:47,187,305...47,571,309
Ensembl chr22:47,325,614...47,571,070

G

Cbl proto-oncogene

onset

NCBI chr 1:110,581,049...110,679,284
Ensembl chr 1:110,581,143...110,674,481

G

C-C motif chemokine ligand 28

protein:decreased expression:small intestine villus (rat)

NCBI chr 4:42,163,094...42,194,517

G

CD28 molecule

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

G

colony stimulating factor 1 receptor

NCBI chr23:52,663,290...52,723,652
Ensembl chr23:52,664,076...52,697,304

G

dyskerin pseudouridine synthase 1

NCBI chr X:129,015,883...129,029,741
Ensembl chr X:129,016,046...129,030,001

G

endothelin receptor type B

NCBI chr 3:56,969,493...56,993,719
Ensembl chr 3:56,969,101...56,992,731

G

Fc fragment of IgG receptor IIa

susceptibility

associated with Lupus Erythematosus, Systemic;DNA:SNP:cds:p.R131H (human)

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

G

Fc fragment of IgG receptor IIIa

susceptibility

associated with Lupus Erythematosus, Systemic;DNA:SNP:cds:p.V158F (human)

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

G

homeobox D13

CTD Direct Evidence: marker/mechanism

NCBI chr10:61,662,670...61,670,955
Ensembl chr10:61,667,880...61,669,743

G

interleukin 1 beta

CTD Direct Evidence: marker/mechanism

NCBI chr14:15,844,628...15,852,652
Ensembl chr14:15,844,672...15,850,729

G

interleukin 2 receptor subunit alpha

IL2RA/CD25 Deficiency, OMIM:606367 DNA:deletion, frameshift:CDS:4 bp deletion, nucleotides 60-64

NCBI chr 9:6,134,961...6,187,731
Ensembl chr 9:6,141,430...6,149,447

G

interleukin 7

CTD Direct Evidence: marker/mechanism

NCBI chr 8:74,230,493...74,292,985
Ensembl chr 8:74,231,809...74,292,384

G

Janus kinase 3

ClinVar Annotator: match by term: Lymphopenia

PMID:25741868 PMID:28492532

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

G

kinesin family member 11

ClinVar Annotator: match by term: Lymphopenia

PMID:25741868 PMID:28492532

NCBI chr 9:85,858,364...85,923,211
Ensembl chr 9:85,858,381...85,923,819

G

lamin B receptor

DNA:point mutation

NCBI chr25:4,326,872...4,353,208
Ensembl chr25:4,330,849...4,351,401

G

myosin-7

ClinVar Annotator: match by term: Lymphopenia

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

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

G

Myb like, SWIRM and MPN domains 1

NCBI chr20:74,284,627...74,323,651
Ensembl chr20:74,284,665...74,323,088

G

NIMA related kinase 1

ClinVar Annotator: match by term: Lymphopenia

PMID:25741868 PMID:28089114 PMID:28492532

NCBI chr 7:115,621,917...115,819,349
Ensembl chr 7:115,621,916...115,819,291

G

nucleoporin 98 and 96 precursor

CTD Direct Evidence: marker/mechanism

NCBI chr 1:62,924,514...63,050,060
Ensembl chr 1:62,925,050...63,050,111

G

solute carrier family 34 member 1

ClinVar Annotator: match by term: Lymphopenia

PMID:25741868 PMID:28492532

NCBI chr23:79,395,923...79,410,835
Ensembl chr23:79,396,250...79,411,695

G

tumor necrosis factor

associated with HIV Infections;protein:increased expression:serum

G

vav guanine nucleotide exchange factor 1

mRNA, protein:increased expression:thymus

NCBI chr 6:6,337,255...6,415,851

lymphoplasmacytic lymphoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

C-X-C motif chemokine receptor 4

disease_progression

DNA:mutation:cds:1013C>G(p.S338X)(human)

NCBI chr10:20,336,470...20,340,308
Ensembl chr10:20,336,247...20,340,309

G

Fc fragment of IgG receptor IIIa

disease_progression
treatment

DNA:polymorphism: :
DNA:SNP:exon:p.F158V (rs396991) (human)

PMID:15659493 PMID:21564078

RGD:11040774 RGD:11352262

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

G

glutathione peroxidase 3

protein:increased expression:bone marrow

NCBI chr23:53,576,950...53,585,321

G

interleukin 10

DNA:SNPs: :multiple

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

G

interleukin 6

no_association

DNA:SNPs: :rs6952003, rs7801617, rs10156056 (human)
DNA:SNPs: :multiple

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

G

interferon regulatory factor 4

NCBI chr17:71,739,920...71,758,811

G

MYD88 innate immune signal transduction adaptor

ClinVar Annotator: match by term: Macroglobulinemia, Waldenstrom, somatic

PMID:21179087 PMID:22931316 PMID:23215570 PMID:23355535 PMID:26619011 More...

NCBI chr15:1,276,804...1,281,811
Ensembl chr15:1,276,798...1,281,166

mantle cell lymphoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

adenylate kinase 1

CTD Direct Evidence: marker/mechanism

NCBI chr12:10,251,793...10,261,635
Ensembl chr12:10,256,054...10,261,465

G

Rho GTPase activating protein 29

CTD Direct Evidence: marker/mechanism

NCBI chr20:39,031,352...39,096,227
Ensembl chr20:39,036,500...39,097,068

G

ATM serine/threonine kinase

ClinVar Annotator: match by term: Mantle cell lymphoma

PMID:10706620 PMID:23807571 PMID:25614872 PMID:28492532

NCBI chr 1:99,653,208...99,786,889
Ensembl chr 1:99,653,139...99,791,520

G

Bruton tyrosine kinase

treatment

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

G

coiled-coil domain containing 50

NCBI chr15:85,493,894...85,563,412
Ensembl chr15:85,494,157...85,556,827

G

cyclin D1

mRNA:increased expression:bone marrow, peripheral blood (human)
CTD Direct Evidence: marker/mechanism

PMID:22383795 PMID:24060591 PMID:26174628

NCBI chr 1:4,909,616...4,922,272
Ensembl chr 1:4,907,353...4,922,357

G

CD79b molecule

treatment

protein:decreased expression:blood, B cell (human)
human cells in mouse model

PMID:10329919 PMID:17374736

RGD:11531139 RGD:151665154

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

G

catenin beta 1

CTD Direct Evidence: marker/mechanism

NCBI chr22:2,679,488...2,725,034
Ensembl chr22:2,684,022...2,723,949

G

chromosome unknown C11orf65 homolog

ClinVar Annotator: match by term: Mantle cell lymphoma

PMID:10706620 PMID:28492532

NCBI chr 1:99,804,191...99,879,834
Ensembl chr 1:99,804,218...99,827,182

G

eukaryotic translation initiation factor 4E

CTD Direct Evidence: marker/mechanism

NCBI chr 7:47,002,522...47,053,060
Ensembl chr 7:47,001,008...47,051,571

G

eukaryotic translation initiation factor 4E binding protein 1

CTD Direct Evidence: marker/mechanism

NCBI chr 8:36,063,311...36,092,439

G

glycogen synthase kinase 3 beta

CTD Direct Evidence: marker/mechanism

NCBI chr22:60,732,449...61,002,735
Ensembl chr22:60,733,465...60,997,239

G

mechanistic target of rapamycin kinase

CTD Direct Evidence: marker/mechanism

NCBI chr20:120,522,667...120,678,988
Ensembl chr20:120,525,737...120,679,020

G

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

CTD Direct Evidence: marker/mechanism

NCBI chr20:122,040,131...122,111,397
Ensembl chr20:122,041,963...122,078,504

G

TNF receptor superfamily member 10a

susceptibility

DNA:SNP:exon:626C>G, 1322A>G (human)
DNA:missense mutation:cds:p.E228A (c.683A>C) (human)

PMID:15531454 PMID:16217763

RGD:11038717 RGD:11038718

NCBI chr 8:21,318,987...21,351,641
Ensembl chr 8:21,315,149...21,351,673

G

Wnt family member 10A

CTD Direct Evidence: marker/mechanism

NCBI chr10:104,781,705...104,795,500
Ensembl chr10:104,782,191...104,794,854

marginal zone lymphoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

BCL10 immune signaling adaptor

CTD Direct Evidence: marker/mechanism

NCBI chr20:48,073,489...48,084,635
Ensembl chr20:48,073,800...48,085,136

G

growth factor independent 1 transcriptional repressor

disease_progression

NCBI chr20:40,771,238...40,786,008
Ensembl chr20:40,776,816...40,783,717

G

major histocompatibility complex, class II, DQ alpha 1

associated with Helicobacter Infections;DNA:polymorphism: :HLA-DQA1*0103 (human)

NCBI chr17:39,422,445...39,428,777
Ensembl chr17:39,420,134...39,428,871

mast-cell leukemia

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

KIT proto-oncogene, receptor tyrosine kinase

ClinVar Annotator: match by term: Mast cell leukemia

PMID:7479840 PMID:7691885 PMID:8589724 PMID:9827716 PMID:9990072 More...

NCBI chr 7:13,808,104...13,891,003
Ensembl chr 7:13,808,037...13,890,976

mastocytosis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

forkhead box F1

CTD Direct Evidence: marker/mechanism

NCBI chr 5:71,898,473...71,902,624
Ensembl chr 5:71,898,786...71,903,661

G

interleukin 13

DNA:SNP:promoter:-1112C>T (rs1800925) (human)

NCBI chr23:35,475,762...35,479,419
Ensembl chr23:35,476,490...35,478,869

G

interleukin 2 receptor subunit beta

NCBI chr19:19,830,919...19,853,534
Ensembl chr19:19,828,898...19,852,988

G

interleukin 4 receptor

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

G

interleukin 5 receptor subunit alpha

NCBI chr22:39,156,711...39,199,394
Ensembl chr22:39,158,023...39,192,861

G

KIT proto-oncogene, receptor tyrosine kinase

ClinVar Annotator: match by term: Mast cell disease | ClinVar Annotator: match by term: Mastocytosis

PMID:7529964 PMID:8589724 PMID:10554798 PMID:11380399 PMID:15790786 More...

NCBI chr 7:13,808,104...13,891,003
Ensembl chr 7:13,808,037...13,890,976

Monoclonal B-Cell Lymphocytosis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

archaelysin family metallopeptidase 2

ClinVar Annotator: match by term: Monoclonal B-Cell Lymphocytosis

NCBI chr16:53,273,949...53,282,915
Ensembl chr16:53,272,602...53,283,906

G

APC regulator of WNT signaling pathway

ClinVar Annotator: match by term: Monoclonal B-Cell Lymphocytosis

PMID:25741868 PMID:28492532

NCBI chr23:15,992,437...16,135,117
Ensembl chr23:16,042,287...16,137,067

G

DAZ associated protein 1

ClinVar Annotator: match by term: Monoclonal B-Cell Lymphocytosis

NCBI chr 6:1,181,416...1,208,784
Ensembl chr 6:1,181,408...1,208,838

G

ficolin 1

ClinVar Annotator: match by term: Monoclonal B-Cell Lymphocytosis

NCBI chr12:3,227,790...3,236,161

G

kelch like family member 6

ClinVar Annotator: match by term: Monoclonal B-Cell Lymphocytosis

NCBI chr15:5,844,728...5,912,392
Ensembl chr15:5,845,721...5,913,734

G

notch receptor 2

ClinVar Annotator: match by term: Monoclonal B-Cell Lymphocytosis

PMID:8755249 PMID:21378985 PMID:21378989 PMID:22891273 PMID:22891276 More...

NCBI chr20:13,712,140...13,871,777
Ensembl chr20:13,712,292...13,871,784

G

Rap guanine nucleotide exchange factor 1

ClinVar Annotator: match by term: Monoclonal B-Cell Lymphocytosis

NCBI chr12:6,407,030...6,566,200
Ensembl chr12:6,437,454...6,567,436

G

SEC14 like lipid binding 1

ClinVar Annotator: match by term: Monoclonal B-Cell Lymphocytosis

NCBI chr16:44,490,927...44,565,922
Ensembl chr16:44,489,852...44,565,853

G

solute carrier family 35 member A5

ClinVar Annotator: match by term: Monoclonal B-Cell Lymphocytosis

NCBI chr22:68,205,783...68,227,717
Ensembl chr22:68,208,604...68,226,340

G

Sp4 transcription factor

ClinVar Annotator: match by term: Monoclonal B-Cell Lymphocytosis

NCBI chr21:36,748,554...36,832,879
Ensembl chr21:36,747,896...36,831,953

G

transmembrane p24 trafficking protein 9

ClinVar Annotator: match by term: Monoclonal B-Cell Lymphocytosis

NCBI chr23:79,609,832...79,613,960
Ensembl chr23:79,609,826...79,614,084

G

vacuole membrane protein 1

ClinVar Annotator: match by term: Monoclonal B-Cell Lymphocytosis

NCBI chr16:33,606,863...33,738,427
Ensembl chr16:33,609,202...33,738,289

monoclonal gammopathy of uncertain significance

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

cytotoxic T-lymphocyte associated protein 4

susceptibility

DNA:microsatellite polymorphism:exon: :

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

G

MYD88 innate immune signal transduction adaptor

NCBI chr15:1,276,804...1,281,811
Ensembl chr15:1,276,798...1,281,166

G

neurofilament heavy chain

associated with Peripheral Nervous System Diseases

NCBI chr19:12,357,982...12,375,449

Monocyte Esterase Deficiency

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

liver carboxylesterase 1

ClinVar Annotator: match by term: DRUG METABOLISM, ALTERED, CES1-RELATED

PMID:18485328 PMID:23111421 PMID:26817948 PMID:27614009

NCBI chr 5:41,710,500...41,745,483

Monocytosis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

tet methylcytosine dioxygenase 2

NCBI chr 7:53,193,824...53,326,813
Ensembl chr 7:53,193,941...53,326,942

multiple myeloma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ATP binding cassette subfamily G member 2 (JR blood group)

treatment

PMID:16917002 PMID:26314844

RGD:11081075 RGD:11081144

NCBI chr 7:36,458,110...36,599,753

G

albumin

disease_progression

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

G

alkB homolog 5, RNA demethylase

CTD Direct Evidence: marker/mechanism

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

G

apolipoprotein E

treatment

NCBI chr 6:38,377,154...38,381,219
Ensembl chr 6:38,376,887...38,381,438

G

AT-rich interaction domain 4A

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr24:35,491,391...35,566,073

G

ATM serine/threonine kinase

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr 1:99,653,208...99,786,889
Ensembl chr 1:99,653,139...99,791,520

G

aurora kinase A

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr 2:7,730,060...7,753,167
Ensembl chr 2:7,734,128...7,752,395

G

beta-2-microglobulin

ClinVar Annotator: match by term: Myelomatosis

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

G

BRCA1 associated deubiquitinase 1

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr22:13,765,510...13,774,866
Ensembl chr22:13,764,686...13,774,740

G

BRCA1 associated RING domain 1

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr10:100,539,827...100,627,718
Ensembl chr10:100,539,527...100,627,675

G

BCL2 apoptosis regulator

CTD Direct Evidence: marker/mechanism

NCBI chr18:16,440,560...16,643,187
Ensembl chr18:16,441,733...16,637,895

G

BCL2 like 1

CTD Direct Evidence: marker/mechanism

PMID:12429644 PMID:14656874

NCBI chr 2:36,059,024...36,118,332
Ensembl chr 2:36,058,919...36,116,470

G

BCL2 like 10

NCBI chr26:31,274,015...31,277,377
Ensembl chr26:31,274,119...31,276,937

G

BCL6 corepressor like 1

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr X:105,238,616...105,314,326
Ensembl chr X:105,240,043...105,314,553

G

BCL2 interacting protein 3

CTD Direct Evidence: marker/mechanism

NCBI chr 9:124,570,958...124,586,002
Ensembl chr 9:124,568,695...124,585,980

G

B-Raf proto-oncogene, serine/threonine kinase

ClinVar Annotator: match by term: Multiple myeloma | ClinVar Annotator: match by term: Myelomatosis

PMID:2493360 PMID:12068308 PMID:12198537 PMID:12447372 PMID:12460918 More...

NCBI chr21:109,495,525...109,690,261

G

BRCA2 DNA repair associated

ClinVar Annotator: match by term: Multiple myeloma

PMID:11904319 PMID:16199547 PMID:17924331 PMID:20104584 PMID:21990134 More...

NCBI chr 3:11,070,086...11,155,257
Ensembl chr 3:11,071,682...11,155,213

G

BTG anti-proliferation factor 1

CTD Direct Evidence: marker/mechanism

NCBI chr11:87,553,779...87,556,535
Ensembl chr11:87,554,731...87,556,542

G

Cbl proto-oncogene

mRNA:decreased expression:mononuclear cell:

NCBI chr 1:110,581,049...110,679,284
Ensembl chr 1:110,581,143...110,674,481

G

chromobox 7

susceptibility

DNA:snp:intron:c.113+3502C>T (human) (rs877529)
CTD Direct Evidence: marker/mechanism

NCBI chr19:21,776,618...21,798,525
Ensembl chr19:21,775,931...21,798,309

G

C-C motif chemokine ligand 2

CTD Direct Evidence: marker/mechanism

NCBI chr16:27,763,354...27,765,437
Ensembl chr16:27,763,555...27,765,416

G

cellular communication network factor 1

exacerbates

mRNA,protein:increased expression:bone marrow (human)
mRNA, protein:increased expression:bone marrow (human)

PMID:25061178 PMID:28035364

RGD:329845528 RGD:329845546

NCBI chr20:47,783,270...47,786,216
Ensembl chr20:47,783,935...47,785,997

G

cyclin D1

susceptibility

ClinVar Annotator: match by term: MULTIPLE MYELOMA, t(11;14) TYPE, SUSCEPTIBILITY TO
DNA:snp:exon:c.870G>A (rs603965) (human)

ClinVar
RGD
OMIM

PMID:10667569 PMID:11459873 PMID:12097293 PMID:23502783 PMID:24870244 More...

NCBI chr 1:4,909,616...4,922,272
Ensembl chr 1:4,907,353...4,922,357

G

cyclin D2

NCBI chr11:4,307,419...4,339,003
Ensembl chr11:4,307,401...4,333,661

G

cyclin D3

NCBI chr17:30,107,236...30,228,449
Ensembl chr17:30,221,598...30,227,452

G

CD40 molecule

treatment

human cells in a mouse model

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

G

CD40 ligand

treatment
disease_progression

protein:increased expression:serum (human)

PMID:15565183 PMID:22403003 PMID:27243341

RGD:11352240 RGD:11352251 RGD:11352268

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

G

CD46 molecule

protein:increased expression:plasma cell (human)

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

G

CD86 molecule

severity

CTD Direct Evidence: marker/mechanism
protein:increased expression:bone marrow, plasma cell (human)

PMID:16611307 PMID:22705596

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

G

cyclin dependent kinase 4

ClinVar Annotator: match by term: Multiple myeloma

PMID:5377176 PMID:7652577 PMID:8528263 PMID:8968104 PMID:9228064 More...

NCBI chr11:53,661,877...53,665,688
Ensembl chr11:53,659,336...53,664,861

G

cyclin dependent kinase inhibitor 2C

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr20:81,964,164...81,970,891
Ensembl chr20:81,963,562...81,968,450

G

chitinase 3 like 1

severity

protein:increased secretion:serum (human)

NCBI chr25:26,160,993...26,169,005
Ensembl chr25:26,160,961...26,169,566

G

cereblon

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr22:39,248,087...39,277,778
Ensembl chr22:39,248,905...39,277,749

G

CREB binding protein

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr 5:3,415,548...3,570,030
Ensembl chr 5:3,415,412...3,540,943

G

colony stimulating factor 2

CTD Direct Evidence: therapeutic

PMID:7540856 PMID:8104070 PMID:8555506

NCBI chr23:34,906,987...34,911,252
Ensembl chr23:34,908,911...34,911,140

G

colony stimulating factor 3

CTD Direct Evidence: therapeutic

PMID:7534716 PMID:7540856

NCBI chr16:66,162,814...66,166,192
Ensembl chr16:66,163,681...66,165,172

G

cytotoxic T-lymphocyte associated protein 4

susceptibility

DNA:microsatellite polymorphism:exon: :

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

G

CYLD lysine 63 deubiquitinase

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr 5:36,541,022...36,600,874
Ensembl chr 5:36,541,764...36,595,417

G

cytochrome P450 family 1 subfamily A member 1

susceptibility

DNA:polymorphisms:3'UTR,cds:3801T>C,12455A>G(human)

NCBI chr26:8,753,236...8,759,378
Ensembl chr26:8,753,327...8,759,384

G

cytochrome P450 family 2 subfamily C member 19

treatment
no_association

DNA:polymorphisms: :

PMID:17666363 PMID:20684753

RGD:11352748 RGD:11352804

NCBI chr 9:87,981,300...88,025,007

G

cytochrome P450 family 2 subfamily D member 6

no_association

DNA:polymorphisms: :

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

G

DIS3 homolog, exosome endoribonuclease and 3'-5' exoribonuclease

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr 3:51,890,033...51,916,628
Ensembl chr 3:51,888,707...51,916,643

G

DNA methyltransferase 3 alpha

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr14:82,313,414...82,427,170
Ensembl chr14:82,402,826...82,420,819

G

desmoglein 2

disease_progression

NCBI chr18:49,174,539...49,227,519
Ensembl chr18:49,174,409...49,227,347

G

eukaryotic translation initiation factor 1A X-linked

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr X:18,589,940...18,606,680
Ensembl chr X:18,588,232...18,606,648

G

endoglin

severity

protein:increased expression:serum:

NCBI chr12:10,274,705...10,315,715
Ensembl chr12:10,275,064...10,315,040

G

epoxide hydrolase 1

no_association
susceptibility

CTD Direct Evidence: marker/mechanism
DNA:SNP:exon:rs2234922 (human)
DNA:SNPs:exon:p.Y113H (rs1051740), p.H139R (rs2234922) (human)

PMID:16949155 PMID:19736056 PMID:24521996

RGD:11252116 RGD:11252121 RGD:11252122

NCBI chr25:3,924,396...3,960,264
Ensembl chr25:3,924,606...3,945,535

G

ERCC excision repair 1, endonuclease non-catalytic subunit

treatment

DNA:SNP: :rs735482 (human)

NCBI chr 6:38,857,067...38,900,177
Ensembl chr 6:38,854,803...38,872,967

G

ERCC excision repair 2, TFIIH core complex helicase subunit

disease_progression
sexual_dimorphism

DNA:polymorphism: :p.K751Q (rs13181) (human)
DNA:SNP:exon 23:p.K751Q (rs1052559)(Human)

PMID:17131345 PMID:22183071

RGD:11252199 RGD:401827277

NCBI chr 6:38,804,296...38,823,229
Ensembl chr 6:38,801,423...38,823,073

G

ETS2 repressor factor

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr 6:36,452,604...36,460,188
Ensembl chr 6:36,452,577...36,460,122

G

Fas ligand

disease_progression

NCBI chr25:56,488,572...56,496,469
Ensembl chr25:56,489,417...56,496,251

G

FAT atypical cadherin 1

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr 7:132,475,689...132,616,151
Ensembl chr 7:132,483,032...132,616,112

G

Fc fragment of IgG receptor IIa

disease_progression
susceptibility

DNA:polymorphism: :rs1801274(human)

PMID:17315188 PMID:25850245

RGD:11040778 RGD:11040938

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

G

fibroblast growth factor receptor 3

ClinVar Annotator: match by term: Myelomatosis

PMID:1908846 PMID:7773297 PMID:8599935 PMID:8640234 PMID:8754806 More...

NCBI chr27:46,958,444...46,974,032
Ensembl chr27:46,957,254...46,973,392

G

fibrinogen gamma chain

treatment

NCBI chr 7:101,148,457...101,157,245
Ensembl chr 7:101,148,058...101,157,111

G

fms related receptor tyrosine kinase 3

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr 3:7,117,579...7,222,600
Ensembl chr 3:7,116,947...7,222,849

G

fms related receptor tyrosine kinase 3 ligand

disease_progression

protein:increased expression:serum:

NCBI chr 6:42,653,820...42,665,017
Ensembl chr 6:42,654,412...42,660,458

G

FTO alpha-ketoglutarate dependent dioxygenase

mRNA:increased expression:bone marrow

NCBI chr 5:39,487,304...39,900,238
Ensembl chr 5:39,487,418...39,725,747

G

glutathione peroxidase 1

NCBI chr22:10,754,976...10,756,617

G

glutathione peroxidase 3

disease_progression

DNA:hypermethylation: :

NCBI chr23:53,576,950...53,585,321

G

glutathione S-transferase pi 1

disease_progression
treatment
no_association

DNA:polymorphism: :
DNA:polymorphism:cds:p.I105V(human)

PMID:17512053 PMID:18061666 PMID:23953887

RGD:10755413 RGD:10755419 RGD:11075094

NCBI chr 1:6,676,897...6,679,936

G

H1.4 linker histone, cluster member

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr17:46,099,264...46,100,067
Ensembl chr17:46,099,330...46,099,986

G

histone deacetylase 4

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr10:125,098,375...125,450,524
Ensembl chr10:125,098,366...125,403,227

G

homeostatic iron regulator

susceptibility

DNA:missense mutation, haplotype:cds:p.C282Y (human)

NCBI chr17:46,159,770...46,168,831
Ensembl chr17:46,156,685...46,164,649

G

histone cluster 1, H2am

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr17:44,639,666...44,640,280
Ensembl chr17:44,694,268...44,694,657

G

hexokinase 1

NCBI chr 9:61,917,501...62,029,737
Ensembl chr 9:61,917,440...62,001,843

G

HRas proto-oncogene, GTPase

ClinVar Annotator: match by term: Myelomatosis
ClinVar Annotator: match by term: Multiple myeloma | ClinVar Annotator: match by term: Myelomatosis

PMID:11150980 PMID:12835555 PMID:16155195 PMID:16170316 PMID:16329078 More...

NCBI chr 1:343,613...345,782
Ensembl chr 1:343,506...346,637

G

heat shock protein family B (small) member 1

CTD Direct Evidence: marker/mechanism

NCBI chr28:10,442,530...10,443,804
Ensembl chr28:10,442,398...10,443,855

G

intercellular adhesion molecule 1

treatment

protein:increased expression:serum:

PMID:7686390 PMID:7834632

RGD:11354981 RGD:11520780

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

G

isocitrate dehydrogenase (NADP(+)) 1

ClinVar Annotator: match by term: Myelomatosis

PMID:18772396 PMID:19657110 PMID:19798509 PMID:19818334 PMID:20946881 More...

NCBI chr10:94,021,002...94,039,997
Ensembl chr10:94,020,818...94,039,975

G

interferon alpha 2

CTD Direct Evidence: therapeutic

PMID:3597002 PMID:8833401 PMID:9234591

NCBI chr12:58,468,018...58,469,825

G

insulin like growth factor 2 receptor

protein:increased expression:serum,urine:

NCBI chr13:87,587,717...87,723,795
Ensembl chr13:87,587,907...87,724,116

G

interleukin 10

disease_progression

protein:increased expression:serum
DNA:SNP, polymorphisms:promoter:-1082G>A, (human)

PMID:11022130 PMID:11307152

RGD:11041888 RGD:11049458

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

G

interleukin 1 alpha

DNA:SNP:promoter:-889C>T (human)
DNA:SNP:promoter:-511C>T (human)

PMID:1777241 PMID:17926179 PMID:25469832

RGD:11049156 RGD:11051973 RGD:11059513

NCBI chr14:15,789,710...15,801,938
Ensembl chr14:15,789,013...15,796,611

G

interleukin 1 beta

DNA:SNPs:promoter, exon:-511C>T, 3954T>C (human)

NCBI chr14:15,844,628...15,852,652
Ensembl chr14:15,844,672...15,850,729

G

interleukin 1 receptor antagonist

no_association

DNA:snp: :11100C>T (human)
DNA:repeats:intron:

PMID:10848780 PMID:17926179

RGD:11051973 RGD:11522764

NCBI chr14:16,136,667...16,152,451
Ensembl chr14:16,146,333...16,151,326

G

interleukin 4 receptor

susceptibility

DNA:SNP: :-228120T>C(rs2107356)(human)

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

G

interleukin 6

CTD Direct Evidence: marker/mechanism

PMID:8520508 PMID:12855565 PMID:19330649

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

G

interleukin 7 receptor

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr 4:34,701,724...34,724,241
Ensembl chr 4:34,701,531...34,721,361

G

interferon regulatory factor 4

treatment
disease_progression

CTD Direct Evidence: marker/mechanism
DNA:translocation

PMID:10557056 PMID:17690696 PMID:18568025 PMID:21707574

RGD:11526161 RGD:11530019 RGD:11530055

NCBI chr17:71,739,920...71,758,811

G

interferon regulatory factor 8

DNA:hypermethylation

NCBI chr 5:71,301,878...71,325,622
Ensembl chr 5:71,302,233...71,325,613

G

lysine demethylase 5C

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr X:49,306,472...49,356,151
Ensembl chr X:49,321,173...49,356,100

G

lysine methyltransferase 2C

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr21:120,299,295...120,587,843
Ensembl chr21:120,301,188...120,587,137

G

lysine methyltransferase 2D

ClinVar Annotator: match by term: Multiple myeloma

PMID:22126750 PMID:24633898 PMID:25326635 PMID:25741868 PMID:27530205 More...

NCBI chr11:45,260,873...45,303,898
Ensembl chr11:45,263,408...45,302,423

G

KRAS proto-oncogene, GTPase

ClinVar Annotator: match by term: Multiple myeloma | ClinVar Annotator: match by term: Myelomatosis

PMID:2278970 PMID:3122217 PMID:12460918 PMID:15696205 PMID:16361624 More...

NCBI chr11:24,963,396...25,010,747
Ensembl chr11:24,973,619...25,005,191

G

large tumor suppressor kinase 1

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr13:21,901,153...21,966,227
Ensembl chr13:21,919,280...21,967,117

G

DNA ligase 4

ClinVar Annotator: match by term: Multiple myeloma | ClinVar Annotator: match by term: Multiple myeloma, resistance to | ClinVar Annotator: match by term: Myelomatosis

PMID:11779494 PMID:12471202 PMID:15333585 PMID:16088910 PMID:24033266 More...

NCBI chr 3:86,576,200...86,587,097
Ensembl chr 3:86,577,304...86,580,039

G

glutathione S-transferase Mu 1

severity
no_association

PMID:15136237 PMID:17653713

RGD:10450826 RGD:10450846

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

G

isocitrate dehydrogenase (NADP(+)) 2

ClinVar Annotator: match by term: Myelomatosis

PMID:20171147 PMID:20847235 PMID:20946881 PMID:21647154 PMID:21889589 More...

NCBI chr29:8,633,429...8,650,744
Ensembl chr29:8,633,715...8,650,657

G

leucine rich repeat containing 56

ClinVar Annotator: match by term: Multiple myeloma | ClinVar Annotator: match by term: Myelomatosis

PMID:11150980 PMID:12835555 PMID:16155195 PMID:16170316 PMID:16329078 More...

NCBI chr 1:352,131...370,276
Ensembl chr 1:355,982...369,633

G

MAF bZIP transcription factor

OMIM:254500

NCBI chr 5:65,064,715...65,078,972

G

MCL1 apoptosis regulator, BCL2 family member

CTD Direct Evidence: marker/mechanism

G

MEFV innate immunity regulator, pyrin

susceptibility

DNA:polymorphisms:cds:p.E148Q,M694V(human)

NCBI chr 5:2,971,323...2,991,501

G

MET proto-oncogene, receptor tyrosine kinase

NCBI chr21:85,370,574...85,486,405
Ensembl chr21:85,397,645...85,488,093

G

methyltransferase 14, N6-adenosine-methyltransferase non-catalytic subunit

CTD Direct Evidence: marker/mechanism

NCBI chr 7:66,169,080...66,195,324
Ensembl chr 7:66,168,855...66,194,121

G

methyltransferase 3, N6-adenosine-methyltransferase complex catalytic subunit

CTD Direct Evidence: marker/mechanism

NCBI chr29:21,967,309...21,981,251
Ensembl chr29:21,963,982...21,981,579

G

MAX dimerization protein MGA

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr26:41,215,424...41,381,828
Ensembl chr26:41,218,082...41,311,526

G

macrophage stimulating 1 receptor

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr22:11,293,637...11,310,239
Ensembl chr22:11,293,263...11,309,980

G

methylenetetrahydrofolate reductase

DNA:missense mutations:cds:677C>T, 1298A>C (human)

NCBI chr20:119,987,667...120,003,611
Ensembl chr20:119,990,133...120,002,950

G

5-methyltetrahydrofolate-homocysteine methyltransferase

susceptibility

DNA:polymorphism: :2756A>G(human)

NCBI chr25:73,935,666...74,039,872
Ensembl chr25:73,935,225...74,038,741

G

5-methyltetrahydrofolate-homocysteine methyltransferase reductase

susceptibility

DNA:polymorphism: :66G>A(human)

NCBI chr 4:7,461,521...7,493,032
Ensembl chr 4:7,461,526...7,493,840

G

mucin 1, cell surface associated

CTD Direct Evidence: marker/mechanism

NCBI chr20:8,641,701...8,646,739
Ensembl chr20:8,642,842...8,646,962

G

MYD88 innate immune signal transduction adaptor

ClinVar Annotator: match by term: Myelomatosis

PMID:21179087 PMID:22931316 PMID:23215570 PMID:23355535 PMID:26619011 More...

NCBI chr15:1,276,804...1,281,811
Ensembl chr15:1,276,798...1,281,166

G

nuclear receptor corepressor 2

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr11:119,675,363...119,917,059
Ensembl chr11:119,676,345...119,917,000

G

neurofibromin 1

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr16:24,550,983...24,836,311
Ensembl chr16:24,550,977...24,836,307

G

NFKB inhibitor alpha

DNA:polymorphism

PMID:12377412 PMID:16540234

RGD:2298895 RGD:2298898

NCBI chr24:12,211,619...12,216,185
Ensembl chr24:12,210,281...12,214,854

G

NK2 homeobox 1

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr24:13,274,118...13,317,533
Ensembl chr24:13,310,846...13,317,056

G

non-POU domain containing octamer binding

exacerbates

mRNA:increased expression: (human)

NCBI chr X:61,082,923...61,110,895

G

notch receptor 2

protein:increased expression:bone marrow (human)

NCBI chr20:13,712,140...13,871,777
Ensembl chr20:13,712,292...13,871,784

G

NADPH oxidase 1

protein:increased expression:serum

NCBI chr X:89,182,636...89,210,176
Ensembl chr X:89,183,264...89,209,298

G

NAD(P)H quinone dehydrogenase 1

no_association

DNA:missense mutation:cds:p.P187S (human)
DNA:missense mutation:cds:p.P187S (609C>T) (human)
CTD Direct Evidence: marker/mechanism

PMID:16949155 PMID:18061666 PMID:18156703

RGD:10755419 RGD:10769348

NCBI chr 5:57,676,547...57,695,434
Ensembl chr 5:57,675,981...57,716,599

G

NRAS proto-oncogene, GTPase

treatment

DNA:mutation: :
ClinVar Annotator: match by term: Myelomatosis

PMID:1654209 PMID:2278970 PMID:2407301 PMID:2674680 PMID:2989702 More...

NCBI chr20:18,953,273...18,966,002
Ensembl chr20:18,953,883...18,961,931

G

NUAK family kinase 1

CTD Direct Evidence: marker/mechanism

NCBI chr11:101,282,483...101,362,618
Ensembl chr11:101,282,347...101,360,602

G

P2Y receptor family member 8

ClinVar Annotator: match by term: Multiple myeloma

G

poly(ADP-ribose) polymerase 1

CTD Direct Evidence: marker/mechanism

NCBI chr25:3,350,798...3,405,040

G

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

ClinVar Annotator: match by term: Myelomatosis

PMID:17376864 PMID:18074223 PMID:20581867 PMID:25741868 PMID:26619011 More...

NCBI chr15:10,218,034...10,304,874
Ensembl chr15:10,218,805...10,294,316

G

phosphoinositide-3-kinase regulatory subunit 2

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr 6:16,620,673...16,637,511
Ensembl chr 6:16,621,606...16,636,937

G

PML nuclear body scaffold

severity

protein:increased expression:bone marrow (human)

NCBI chr26:9,441,998...9,494,949
Ensembl chr26:9,451,112...9,494,931

G

RNA polymerase I subunit G

sexual_dimorphism

DNA:SNP:exon 1: p.G-21A (rs967591) (human)

NCBI chr 6:38,853,681...38,857,241
Ensembl chr 6:38,853,874...38,859,288

G

paraoxonase 1

treatment
severity
susceptibility

protein:decreased activity:serum (human)
DNA:missense mutation:cds:p.Q192R (human)

PMID:15136237 PMID:22348216 PMID:25520116

RGD:10450846 RGD:11040544 RGD:11552578

NCBI chr21:53,713,434...53,739,658
Ensembl chr21:53,714,012...53,739,875

G

protein arginine methyltransferase 5

CTD Direct Evidence: marker/mechanism

NCBI chr29:23,288,458...23,297,746
Ensembl chr29:23,288,835...23,297,518

G

psoriasis susceptibility 1 candidate 2

CTD Direct Evidence: marker/mechanism

NCBI chr17:41,336,262...41,339,413
Ensembl chr17:41,337,779...41,338,992

G

parathyroid hormone like hormone

CTD Direct Evidence: marker/mechanism

NCBI chr11:27,682,300...27,694,808
Ensembl chr11:27,682,338...27,694,898

G

protein tyrosine phosphatase non-receptor type 11

ClinVar Annotator: match by term: Myelomatosis

PMID:11704759 PMID:12634870 PMID:12717436 PMID:14644997 PMID:14974085 More...

NCBI chr11:107,658,495...107,754,457
Ensembl chr11:107,658,453...107,752,637

G

RAN binding protein 2

mRNA:increased expression:bone marrow, plasma cell (human)

NCBI chr14:12,250,986...12,318,801
Ensembl chr14:12,251,007...12,319,735

G

RB binding protein 8, endonuclease

exacerbates

mRNA:increased expression:bone marrow, plasma cell (human)

NCBI chr18:57,501,070...57,617,301
Ensembl chr18:57,501,271...57,597,670

G

retinol binding protein 1

disease_progression

DNA:hypermethylation: :

NCBI chr15:51,011,664...51,033,963

G

RecQ like helicase 4

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr 8:138,725,494...138,732,286
Ensembl chr 8:138,725,633...138,732,096

G

roundabout guidance receptor 1

ameliorates

NCBI chr22:97,178,093...98,363,647
Ensembl chr22:98,222,891...98,363,219

G

RUNX family transcription factor 1

mRNA:splice variant

NCBI chr 2:78,819,189...79,082,491
Ensembl chr 2:78,819,194...78,924,495

G

retinoid X receptor alpha

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr12:3,704,129...3,814,707
Ensembl chr12:3,699,923...3,814,678

G

SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr 2:57,641,634...57,699,685
Ensembl chr 2:57,639,046...57,699,525

G

serum/glucocorticoid regulated kinase 1

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr13:39,152,289...39,306,190
Ensembl chr13:39,300,567...39,306,183

G

SH2B adaptor protein 3

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr11:106,657,601...106,703,940
Ensembl chr11:106,670,685...106,700,619

G

superoxide dismutase 2

CTD Direct Evidence: marker/mechanism

NCBI chr13:87,284,537...87,297,998
Ensembl chr13:87,280,686...87,297,974

G

secreted protein acidic and cysteine rich

disease_progression

CTD Direct Evidence: marker/mechanism
DNA:hypermethylation: :

PMID:18172295 PMID:23699600

NCBI chr23:54,224,003...54,248,869
Ensembl chr23:54,222,838...54,238,006

G

secreted phosphoprotein 1

NCBI chr 7:36,337,165...36,344,927
Ensembl chr 7:36,338,386...36,344,407

G

transcription factor 3

ClinVar Annotator: match by term: Multiple myeloma

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

G

telomerase reverse transcriptase

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

G

tet methylcytosine dioxygenase 2

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr 7:53,193,824...53,326,813
Ensembl chr 7:53,193,941...53,326,942

G

tet methylcytosine dioxygenase 3

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr14:33,170,046...33,293,128
Ensembl chr14:33,176,039...33,293,906

G

transferrin receptor

treatment

NCBI chr15:91,102,153...91,134,994
Ensembl chr15:91,102,817...91,135,584

G

transforming growth factor beta 1

disease_progression

protein:decreased expression:serum:
DNA:hypermethylation: :

PMID:22560388 PMID:23699600

RGD:11073605 RGD:11073614

NCBI chr 6:35,651,583...35,674,387
Ensembl chr 6:35,648,677...35,674,365

G

tumor necrosis factor

treatment
no_association

DNA:SNP:promoter:-238G>A (human)
DNA:SNP:promoter:-308G>A (human)

PMID:12200397 PMID:12815949

RGD:10449450 RGD:10449453

G

TNF receptor superfamily member 10a

treatment

NCBI chr 8:21,318,987...21,351,641
Ensembl chr 8:21,315,149...21,351,673

G

TNF receptor superfamily member 13B

CTD Direct Evidence: marker/mechanism

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

G

TNF receptor superfamily member 17

NCBI chr 5:11,435,306...11,438,573
Ensembl chr 5:11,435,842...11,438,351

G

TNF superfamily member 8

CTD Direct Evidence: marker/mechanism

NCBI chr12:24,646,797...24,684,341
Ensembl chr12:24,647,412...24,678,466

G

tumor protein p53

treatment
disease_progression

DNA:deletion: :
ClinVar Annotator: match by term: Multiple myeloma | ClinVar Annotator: match by term: Myelomatosis
DNA:polymorphism:cds:p.R72P(human)
protein:increased expression:nucleus:

PMID:253702 PMID:960674 PMID:1565143 PMID:1565144 PMID:1631137 More...

RGD:11073716 RGD:11073728 RGD:11075073

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

G

tRNA nucleotidyl transferase 1

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr22:39,220,163...39,247,110
Ensembl chr22:39,222,663...39,246,112

G

thymidylate synthetase

no_association
treatment

DNA:repeats:5'UTR:
DNA:polymorphism: :

PMID:17512053 PMID:17655928

RGD:11075094 RGD:11075095

NCBI chr18:60,030,640...60,043,297
Ensembl chr18:60,030,658...60,041,856

G

unc-51 like kinase 4

CTD Direct Evidence: marker/mechanism

NCBI chr22:2,731,174...3,398,885
Ensembl chr22:2,731,308...3,398,912

G

vascular endothelial growth factor A

susceptibility

DNA:SNPs,haplotypes: :rs699947,rs1570360, rs2010963(human)

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

G

xanthine dehydrogenase

protein:increased expression:serum

NCBI chr14:76,084,693...76,162,840
Ensembl chr14:76,085,368...76,163,936

G

exportin 5

severity

DNA:snp:3' utr:c.*659A>C (rs11077) (human)

NCBI chr17:28,585,317...28,637,045
Ensembl chr17:28,585,536...28,635,519

G

X-ray repair cross complementing 3

disease_progression

DNA:SNP,haplotype:: p.T241M (rs861535) (Human)

NCBI chr24:81,627,911...81,641,598
Ensembl chr24:81,630,099...81,641,218

G

X-ray repair cross complementing 4

susceptibility

DNA:SNPs:multiple (human)

NCBI chr 4:77,182,569...77,468,786
Ensembl chr 4:77,182,793...77,468,775

G

X-ray repair cross complementing 5

susceptibility

DNA:SNP:3'-UTR (human)

NCBI chr10:101,952,909...102,051,059
Ensembl chr10:101,953,067...102,049,964

G

Yes1 associated transcriptional regulator

ClinVar Annotator: match by term: Multiple myeloma

NCBI chr 1:93,479,478...93,605,340
Ensembl chr 1:93,479,135...93,606,808

G

YTH N6-methyladenosine RNA binding protein F1

CTD Direct Evidence: marker/mechanism

NCBI chr 2:985,373...1,010,533
Ensembl chr 2:985,425...1,012,091

G

YY1 transcription factor

CTD Direct Evidence: marker/mechanism

NCBI chr24:78,199,172...78,243,081
Ensembl chr24:78,199,039...78,237,165

myeloproliferative disorder with eosinophilia

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

platelet derived growth factor receptor beta

ClinVar Annotator: match by term: EOSINOPHILS, MALIGNANT PROLIFERATION OF | ClinVar Annotator: match by term: Myeloproliferative disorder, chronic, with eosinophilia

PMID:25454926 PMID:25741868 PMID:26455322 PMID:28492532 PMID:29226947 More...

NCBI chr23:52,724,061...52,766,264
Ensembl chr23:52,724,005...52,766,234

Neurodevelopmental Disorder with Facial Dysmorphism, Absent Language, and Pseudo-Pelger-Huet Anomaly

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

transmembrane protein 147

ClinVar Annotator: match by term: Neurodevelopmental disorder with facial dysmorphism, absent language, and pseudo-pelger-huet anomaly | ClinVar Annotator: match by term: TMEM147-related condition

PMID:25741868 PMID:28492532 PMID:36044892

NCBI chr 6:30,470,410...30,472,336
Ensembl chr 6:30,470,479...30,472,981

neutropenia

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ATP binding cassette subfamily B member 1

CTD Direct Evidence: marker/mechanism

PMID:16950614 PMID:25007187

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

G

ankyrin repeat domain containing 11

ClinVar Annotator: match by term: Neutropenia

NCBI chr 5:74,630,108...74,682,232
Ensembl chr 5:74,628,310...74,682,232

G

adaptor related protein complex 3 subunit beta 1

NCBI chr 4:72,225,658...72,524,971
Ensembl chr 4:72,225,599...72,524,933

G

ATPase H+ transporting accessory protein 1

ClinVar Annotator: match by term: Neutropenia

PMID:25741868 PMID:28492532

G

complement C5

PMID:10188960 PMID:10516626

RGD:1600665 RGD:5130180

NCBI chr12:18,525,855...18,624,048
Ensembl chr12:18,525,880...18,623,636

G

complement C5a receptor 1

NCBI chr 6:40,633,540...40,651,839
Ensembl chr 6:40,633,448...40,652,845

G

cyclin Q

ClinVar Annotator: match by term: Neutropenia

PMID:25741868 PMID:28492532

NCBI chr X:128,018,651...128,030,122
Ensembl chr X:128,019,090...128,030,083

G

complement factor B

ClinVar Annotator: match by term: Neutropenia

Ensembl chr17:40,069,909...40,094,207

G

chromodomain helicase DNA binding protein 1 like

ClinVar Annotator: match by term: Neutropenia

G

ClpB family mitochondrial disaggregase

ClinVar Annotator: match by term: Neutropenia

PMID:25597510 PMID:25597511 PMID:25741868 PMID:27290639 PMID:27891836 More...

NCBI chr 1:63,520,305...63,667,237
Ensembl chr 1:63,515,814...63,667,105

G

colony stimulating factor 2

treatment

CTD Direct Evidence: therapeutic

PMID:7875148 PMID:10832225 PMID:11264156

NCBI chr23:34,906,987...34,911,252
Ensembl chr23:34,908,911...34,911,140

G

colony stimulating factor 3

CTD Direct Evidence: marker/mechanism|therapeutic

PMID:7524159 PMID:7529132 PMID:7543699 PMID:7688884 PMID:9740541 More...

NCBI chr16:66,162,814...66,166,192
Ensembl chr16:66,163,681...66,165,172

G

chromosome unknown C16orf92 homolog

ClinVar Annotator: match by term: Neutropenia

NCBI chr 5:26,639,049...26,640,862
Ensembl chr 5:26,639,548...26,640,418

G

dihydropyrimidine dehydrogenase

CTD Direct Evidence: marker/mechanism

NCBI chr20:35,376,738...36,215,388
Ensembl chr20:35,377,266...36,215,679

G

elastase, neutrophil expressed

ClinVar Annotator: match by term: Neutropenia

PMID:9536098 PMID:10581030 PMID:11001877 PMID:11722436 PMID:17576681 More...

NCBI chr 6:599,392...604,925
Ensembl chr 6:601,217...604,725

G

epoxide hydrolase 1

ClinVar Annotator: match by term: Neutropenia

NCBI chr25:3,924,396...3,960,264
Ensembl chr25:3,924,606...3,945,535

G

Fc fragment of IgG receptor IIa

DNA:SNP:cds:p.R131H (human)

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

G

growth factor independent 1 transcriptional repressor

DNA:mutation:exon:

PMID:11810106 PMID:22684987

RGD:11040449 RGD:11040456

NCBI chr20:40,771,238...40,786,008
Ensembl chr20:40,776,816...40,783,717

G

HCLS1 associated protein X-1

ClinVar Annotator: match by term: Neutropenia

PMID:28492532 PMID:32581362

NCBI chr20:9,537,544...9,545,214
Ensembl chr20:9,537,525...9,545,299

G

homeobox D13

CTD Direct Evidence: marker/mechanism

NCBI chr10:61,662,670...61,670,955
Ensembl chr10:61,667,880...61,669,743

G

interferon alpha 2

CTD Direct Evidence: marker/mechanism

NCBI chr12:58,468,018...58,469,825

G

interleukin 1 beta

CTD Direct Evidence: marker/mechanism

NCBI chr14:15,844,628...15,852,652
Ensembl chr14:15,844,672...15,850,729

G

integrin subunit alpha M

associated with Brain Contusion

NCBI chr 5:27,957,162...28,042,697
Ensembl chr 5:27,957,324...28,042,691

G

jagunal homolog 1

CTD Direct Evidence: marker/mechanism

PMID:25129144 PMID:25129145

NCBI chr22:45,917,319...45,921,082
Ensembl chr22:45,917,444...45,920,250

G

kinesin family member 11

ClinVar Annotator: match by term: Neutropenia

PMID:25741868 PMID:28492532

NCBI chr 9:85,858,364...85,923,211
Ensembl chr 9:85,858,381...85,923,819

G

LIM zinc finger domain containing 2

ClinVar Annotator: match by term: Neutropenia

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

G

low affinity immunoglobulin gamma Fc region receptor II-b

CTD Direct Evidence: marker/mechanism

NCBI chr20:2,398,425...2,413,328

G

mucin-16

ClinVar Annotator: match by term: Neutropenia

NCBI chr 6:8,110,087...8,256,015

G

MAGE family member C1

ClinVar Annotator: match by term: Neutropenia

NCBI chr X:116,798,923...116,808,493

G

marker of proliferation Ki-67

protein:increased expression:blood, T cell

NCBI chr 9:120,697,183...120,727,039
Ensembl chr 9:120,698,834...120,726,866

G

methylenetetrahydrofolate reductase

CTD Direct Evidence: marker/mechanism

NCBI chr20:119,987,667...120,003,611
Ensembl chr20:119,990,133...120,002,950

G

nudix hydrolase 15

NCBI chr 3:25,966,148...25,974,143
Ensembl chr 3:25,966,876...25,973,647

G

nucleoporin 98 and 96 precursor

CTD Direct Evidence: marker/mechanism

NCBI chr 1:62,924,514...63,050,060
Ensembl chr 1:62,925,050...63,050,111

G

plakophilin 3

ClinVar Annotator: match by term: Neutropenia

NCBI chr 1:214,986...223,958
Ensembl chr 1:215,874...224,015

G

RNA polymerase III subunit C

ClinVar Annotator: match by term: Neutropenia

NCBI chr20:12,901,879...12,919,748
Ensembl chr20:12,901,898...12,919,783

G

platelet activating factor receptor

treatment

NCBI chr20:104,627,591...104,658,840
Ensembl chr20:104,657,179...104,658,207

G

ring finger protein 128

ClinVar Annotator: match by term: Neutropenia

NCBI chr X:94,568,746...94,633,627
Ensembl chr X:94,568,776...94,633,618

G

ribosomal protein S14

CTD Direct Evidence: marker/mechanism

NCBI chr23:53,046,670...53,052,082
Ensembl chr23:53,044,994...53,050,194

G

solute carrier family 34 member 1

ClinVar Annotator: match by term: Neutropenia

PMID:25741868 PMID:28492532

NCBI chr23:79,395,923...79,410,835
Ensembl chr23:79,396,250...79,411,695

G

SWI/SNF related BAF chromatin remodeling complex subunit D2

CTD Direct Evidence: marker/mechanism

NCBI chr16:57,446,825...57,457,605
Ensembl chr16:57,447,137...57,456,754

G

signal transducer and activator of transcription 2

susceptibility

associated with Chronic Hepatitis C;DNA:SNP:intron 5:g.4757G>T (human)

NCBI chr11:52,297,890...52,316,089
Ensembl chr11:52,297,543...52,316,105

G

signal transducer and activator of transcription 3

associated with T-cell large granular lymphocyte leukemia

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

G

TLE family member 2, transcriptional corepressor

ClinVar Annotator: match by term: Neutropenia

NCBI chr 6:2,770,558...2,792,228

G

transmembrane protein 63A

ClinVar Annotator: match by term: Neutropenia

NCBI chr25:3,887,535...3,924,422
Ensembl chr25:3,890,581...3,922,944

G

tumor necrosis factor

G

TNF receptor superfamily member 10a

CTD Direct Evidence: marker/mechanism

NCBI chr 8:21,318,987...21,351,641
Ensembl chr 8:21,315,149...21,351,673

G

thiopurine S-methyltransferase

CTD Direct Evidence: marker/mechanism

NCBI chr17:53,987,561...54,012,647
Ensembl chr17:53,987,559...54,014,650

G

ubiquitin specific peptidase 3

ClinVar Annotator: match by term: Neutropenia

NCBI chr26:19,947,806...20,030,515
Ensembl chr26:19,948,453...19,992,638

G

VPS16 core subunit of CORVET and HOPS complexes

ClinVar Annotator: match by term: Neutropenia

NCBI chr 2:33,527,526...33,554,742
Ensembl chr 2:33,527,554...33,557,145

G

xanthine dehydrogenase

ClinVar Annotator: match by term: Neutropenia

PMID:25741868 PMID:28492532 PMID:30755392

NCBI chr14:76,084,693...76,162,840
Ensembl chr14:76,085,368...76,163,936

G

zinc finger CCCH-type containing 3

ClinVar Annotator: match by term: Neutropenia

NCBI chr 8:137,656,299...137,762,448
Ensembl chr 8:137,656,302...137,762,403

Neutrophilia

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

colony stimulating factor 3

treatment

NCBI chr16:66,162,814...66,166,192
Ensembl chr16:66,163,681...66,165,172

G

platelet activating factor receptor

treatment

associated with Scorpion Stings

NCBI chr20:104,627,591...104,658,840
Ensembl chr20:104,657,179...104,658,207

Nonimmune Chronic Idiopathic Neutropenia, Adult

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

growth factor independent 1 transcriptional repressor

ClinVar Annotator: match by term: Nonimmune chronic idiopathic neutropenia of adults

PMID:11807637 PMID:12778173 PMID:25741868 PMID:28492532

NCBI chr20:40,771,238...40,786,008
Ensembl chr20:40,776,816...40,783,717

G

telomerase reverse transcriptase

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

Omenn syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

DNA cross-link repair 1C

ClinVar Annotator: match by term: Severe combined immunodeficiency with hypereosinophilia

PMID:25741868 PMID:28492532

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

G

interleukin 7 receptor

ClinVar Annotator: match by term: Severe combined immunodeficiency with hypereosinophilia

PMID:21664875 PMID:25741868 PMID:26123418 PMID:28492532

NCBI chr 4:34,701,724...34,724,241
Ensembl chr 4:34,701,531...34,721,361

G

recombination activating 1

ClinVar Annotator: match by term: Severe combined immunodeficiency with hypereosinophilia

PMID:2682973 PMID:8810255 PMID:9630231 PMID:10606976 PMID:10891452 More...

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

G

recombination activating 2

ClinVar Annotator: match by term: Severe combined immunodeficiency with hypereosinophilia

PMID:10777560 PMID:11138625 PMID:11313270 PMID:15025726 PMID:16960852 More...

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

Pdgfra-Associated Chronic Eosinophilic Leukemia

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

factor interacting with PAPOLA and CPSF1

DNA:gene fusion

NCBI chr 7:15,072,962...15,147,216
Ensembl chr 7:15,069,470...15,147,178

G

platelet derived growth factor receptor alpha

DNA:gene fusion

NCBI chr 7:14,243,291...14,307,373
Ensembl chr 7:14,241,070...14,307,422

Pelger-Huet anomaly

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

lamin B receptor

susceptibility

ClinVar Annotator: match by term: Ovoid neutrophil nuclei, developmental delay, epilepsy and skeletal abnormalities | ClinVar Annotator: match by term: Pelger-Huet Anomaly | ClinVar Annotator: match by term: Pelger-Huët anomaly
DNA:splice-site mutations, frameshift mutations, nonsense mutations

OMIM
ClinVar
RGD

PMID:12118250 PMID:14617022 PMID:18382993 PMID:21327084 PMID:23824842 More...

NCBI chr25:4,326,872...4,353,208
Ensembl chr25:4,330,849...4,351,401

PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

lamin B receptor

ClinVar Annotator: match by term: PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES | ClinVar Annotator: match by term: RHIZOMELIC SKELETAL DYSPLASIA WITH PELGER-HUET ANOMALY

PMID:18382993 PMID:23824842 PMID:25348816 PMID:25741868 PMID:28492532 More...

NCBI chr25:4,326,872...4,353,208
Ensembl chr25:4,330,849...4,351,401

Persistent Polyclonal B-Cell Lymphocytosis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

caspase recruitment domain family member 11

DNA:missense mutations:cds:p.E127G, p.G116S (human)

phagocyte bactericidal dysfunction

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

glucose-6-phosphate dehydrogenase

CTD Direct Evidence: marker/mechanism

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

G

cytochrome b-245 light chain

DNA:mutations: :multiple (human)

NCBI chr 5:74,023,134...74,030,793
Ensembl chr 5:74,023,082...74,030,750

plasma cell leukemia

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

CD40 molecule

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

G

telomerase reverse transcriptase

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

plasma cell neoplasm

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

beta-2-microglobulin

ClinVar Annotator: match by term: Plasma cell dyscrasia

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

G

BCL2 like 1

severity

NCBI chr 2:36,059,024...36,118,332
Ensembl chr 2:36,058,919...36,116,470

G

B-Raf proto-oncogene, serine/threonine kinase

ClinVar Annotator: match by term: Plasma cell dyscrasia

PMID:12068308 PMID:12198537 PMID:12447372 PMID:12460918 PMID:12460919 More...

NCBI chr21:109,495,525...109,690,261

G

fibroblast growth factor receptor 3

ClinVar Annotator: match by term: Plasma cell dyscrasia

PMID:1908846 PMID:7773297 PMID:8599935 PMID:8640234 PMID:8754806 More...

NCBI chr27:46,958,444...46,974,032
Ensembl chr27:46,957,254...46,973,392

G

HRas proto-oncogene, GTPase

ClinVar Annotator: match by term: Plasma cell dyscrasia

PMID:11150980 PMID:12835555 PMID:16155195 PMID:16170316 PMID:16329078 More...

NCBI chr 1:343,613...345,782
Ensembl chr 1:343,506...346,637

G

isocitrate dehydrogenase (NADP(+)) 1

ClinVar Annotator: match by term: Plasma cell dyscrasia

PMID:18772396 PMID:19657110 PMID:19798509 PMID:19818334 PMID:20946881 More...

NCBI chr10:94,021,002...94,039,997
Ensembl chr10:94,020,818...94,039,975

G

lysine methyltransferase 2D

ClinVar Annotator: match by term: Plasma cell dyscrasia

PMID:22126750 PMID:24633898 PMID:25326635 PMID:25741868 PMID:27530205 More...

NCBI chr11:45,260,873...45,303,898
Ensembl chr11:45,263,408...45,302,423

G

KRAS proto-oncogene, GTPase

ClinVar Annotator: match by term: Plasma cell dyscrasia

PMID:2278970 PMID:3122217 PMID:12460918 PMID:15696205 PMID:16361624 More...

NCBI chr11:24,963,396...25,010,747
Ensembl chr11:24,973,619...25,005,191

G

DNA ligase 4

ClinVar Annotator: match by term: Plasma cell dyscrasia

PMID:11779494 PMID:15333585 PMID:16088910 PMID:24123394 PMID:24759409 More...

NCBI chr 3:86,576,200...86,587,097
Ensembl chr 3:86,577,304...86,580,039

G

isocitrate dehydrogenase (NADP(+)) 2

ClinVar Annotator: match by term: Plasma cell dyscrasia

PMID:20171147 PMID:20847235 PMID:20946881 PMID:21647154 PMID:21889589 More...

NCBI chr29:8,633,429...8,650,744
Ensembl chr29:8,633,715...8,650,657

G

leucine rich repeat containing 56

ClinVar Annotator: match by term: Plasma cell dyscrasia

PMID:11150980 PMID:12835555 PMID:16155195 PMID:16170316 PMID:16329078 More...

NCBI chr 1:352,131...370,276
Ensembl chr 1:355,982...369,633

G

MYD88 innate immune signal transduction adaptor

ClinVar Annotator: match by term: Plasma cell dyscrasia

PMID:21179087 PMID:22931316 PMID:23215570 PMID:23355535 PMID:26619011 More...

NCBI chr15:1,276,804...1,281,811
Ensembl chr15:1,276,798...1,281,166

G

NRAS proto-oncogene, GTPase

ClinVar Annotator: match by term: Plasma cell dyscrasia

PMID:1654209 PMID:2278970 PMID:2407301 PMID:2674680 PMID:2989702 More...

NCBI chr20:18,953,273...18,966,002
Ensembl chr20:18,953,883...18,961,931

G

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

ClinVar Annotator: match by term: Plasma cell dyscrasia

PMID:17376864 PMID:18074223 PMID:20581867 PMID:25741868 PMID:26619011 More...

NCBI chr15:10,218,034...10,304,874
Ensembl chr15:10,218,805...10,294,316

G

protein tyrosine phosphatase non-receptor type 11

ClinVar Annotator: match by term: Plasma cell dyscrasia

PMID:11704759 PMID:12634870 PMID:12717436 PMID:14644997 PMID:14974085 More...

NCBI chr11:107,658,495...107,754,457
Ensembl chr11:107,658,453...107,752,637

G

tumor protein p53

ClinVar Annotator: match by term: Plasma cell dyscrasia

PMID:253702 PMID:960674 PMID:1565143 PMID:1565144 PMID:1631137 More...

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

plasmacytoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

activation induced cytidine deaminase

treatment

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

G

BCL2 apoptosis regulator

susceptibility

human gene in a mouse model

NCBI chr18:16,440,560...16,643,187
Ensembl chr18:16,441,733...16,637,895

G

interleukin 10

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

G

roundabout guidance receptor 1

ameliorates

NCBI chr22:97,178,093...98,363,647
Ensembl chr22:98,222,891...98,363,219

G

tumor necrosis factor

treatment

poikiloderma with neutropenia

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

U6 snRNA biogenesis phosphodiesterase 1

ClinVar Annotator: match by term: Poikiloderma with neutropenia

PMID:11737690 PMID:16199547 PMID:18925663 PMID:20004881 PMID:20503306 More...

NCBI chr 5:43,932,208...43,956,719
Ensembl chr 5:43,932,847...43,957,074

Presentey Anomaly

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

eosinophil peroxidase

ClinVar Annotator: match by term: Eosinophil peroxidase deficiency

PMID:7809065 PMID:11241847 PMID:25741868 PMID:28492532

NCBI chr16:35,196,433...35,208,269
Ensembl chr16:35,192,971...35,207,874

pulmonary eosinophilia

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ADAM metallopeptidase domain 8

protein:increased expression:serum

NCBI chr26:53,114,184...53,129,650
Ensembl chr26:53,114,924...53,126,900

G

complement C3

NCBI chr 6:6,250,422...6,289,264

G

C-C motif chemokine ligand 1

associated with Asthma

NCBI chr16:27,868,925...27,890,143

G

C-C motif chemokine ligand 11

NCBI chr16:27,792,699...27,796,437
Ensembl chr16:27,794,033...27,796,460

G

C-C motif chemokine ligand 17

protein:increased expression:respiratory system fluid/secretion

NCBI chr 5:43,343,525...43,350,096
Ensembl chr 5:43,346,329...43,348,599

G

C-C motif chemokine receptor 3

NCBI chr22:7,648,410...7,698,523
Ensembl chr22:7,697,068...7,698,135

G

CD44 molecule (IN blood group)

NCBI chr 1:30,039,854...30,132,646
Ensembl chr 1:30,039,749...30,132,416

G

endothelial PAS domain protein 1

NCBI chr14:60,823,110...60,912,804
Ensembl chr14:60,822,815...60,912,785

G

interleukin 10

protein:increased expression:lung

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

G

interleukin 13

associated with Respiratory Syncytial Virus Infections

NCBI chr23:35,475,762...35,479,419
Ensembl chr23:35,476,490...35,478,869

G

interleukin 1 receptor antagonist

protein:increased expression:Bronchoalveolar lavage:

NCBI chr14:16,136,667...16,152,451
Ensembl chr14:16,146,333...16,151,326

G

interleukin 5

treatment

protein:increased expression:respiratory system fluid/secretion
associated with respiratory syncytial virus infection
associated with Pulmonary Fibrosis;protein:increased expression:respiratory system fluid/secretion

PMID:9712797 PMID:10471622 PMID:12765419 PMID:17597386 PMID:18519743

RGD:11354935 RGD:11354949 RGD:4890941 RGD:4890956 RGD:4890961

NCBI chr23:35,360,143...35,375,169
Ensembl chr23:35,360,506...35,362,178

G

integrin subunit beta 2

protein:increased expression:lung (mouse)

NCBI chr 2:88,597,554...88,644,890
Ensembl chr 2:88,597,556...88,624,025

G

thromboxane A2 receptor

treatment

NCBI chr 6:3,354,358...3,365,779
Ensembl chr 6:3,355,314...3,359,761

G

MYD88 innate immune signal transduction adaptor

CTD Direct Evidence: marker/mechanism

NCBI chr15:1,276,804...1,281,811
Ensembl chr15:1,276,798...1,281,166

G

nitric oxide synthase 2

NCBI chr16:21,533,011...21,576,645
Ensembl chr16:21,533,484...21,574,257

G

nitric oxide synthase 3

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

G

secretoglobin family 1A member 1

protein:decreased expression:serum

NCBI chr 1:11,470,091...11,474,915
Ensembl chr 1:11,470,195...11,474,149

reticular dysgenesis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

adenylate kinase 2

ClinVar Annotator: match by term: Reticular dysgenesis

PMID:9536098 PMID:17576681 PMID:19043416 PMID:19043417 PMID:19414857 More...

NCBI chr20:99,834,286...99,863,071
Ensembl chr20:99,834,334...99,858,781

Schnitzler syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

interleukin 1 alpha

NCBI chr14:15,789,710...15,801,938
Ensembl chr14:15,789,013...15,796,611

G

interleukin 1 receptor antagonist

susceptibility

CTD Direct Evidence: therapeutic

NCBI chr14:16,136,667...16,152,451
Ensembl chr14:16,146,333...16,151,326

Severe Chronic Neutropenia

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

colony stimulating factor 3 receptor

NCBI chr20:96,380,798...96,397,745
Ensembl chr20:96,384,222...96,398,618

severe congenital neutropenia

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

colony stimulating factor 3 receptor

disease_progression

ClinVar Annotator: match by term: Severe congenital neutropenia

PMID:16985178 PMID:24753537 PMID:26324699 PMID:28492532 PMID:28652245 More...

NCBI chr20:96,380,798...96,397,745
Ensembl chr20:96,384,222...96,398,618

G

elastase, neutrophil expressed

mRNA:decreased expression:myeloid CD33+ cell:
DNA:mutation:intron:c.597+1G>A (human)
DNA:mutations: :

PMID:10581030 PMID:19620402 PMID:21425445 PMID:24616599

RGD:10450514 RGD:10450519 RGD:10450525 RGD:1598891

NCBI chr 6:599,392...604,925
Ensembl chr 6:601,217...604,725

G

FCH and mu domain containing endocytic adaptor 1

ClinVar Annotator: match by term: Severe congenital neutropenia

PMID:30822429 PMID:32098969

NCBI chr 6:16,223,036...16,259,228
Ensembl chr 6:16,238,045...16,265,440

G

glucose-6-phosphatase catalytic subunit 3

ClinVar Annotator: match by term: Severe congenital neutropenia

NCBI chr16:62,315,324...62,321,522
Ensembl chr16:62,315,624...62,321,512

G

growth factor independent 1 transcriptional repressor

OMIM:202700 | OMIM:300299 | OMIM:610738 | OMIM:612541 | OMIM:613107 | OMIM:615285 | OMIM:616022

NCBI chr20:40,771,238...40,786,008
Ensembl chr20:40,776,816...40,783,717

G

HCLS1 associated protein X-1

ClinVar Annotator: match by term: Severe congenital neutropenia

PMID:16199547 PMID:17187068 PMID:19036076 PMID:19499579 PMID:22624626 More...

NCBI chr20:9,537,544...9,545,214
Ensembl chr20:9,537,525...9,545,299

G

jagunal homolog 1

ClinVar Annotator: match by term: Severe congenital neutropenia

PMID:25129144 PMID:25741868 PMID:25851723 PMID:27980538 PMID:28492532 More...

NCBI chr22:45,917,319...45,921,082
Ensembl chr22:45,917,444...45,920,250

G

T cell immune regulator 1, ATPase H+ transporting V0 subunit a3

ClinVar Annotator: match by term: Congenital neutropenia

NCBI chr 1:6,484,469...6,497,008
Ensembl chr 1:6,484,474...6,494,719

severe congenital neutropenia 1

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

elastase, neutrophil expressed

ClinVar Annotator: match by term: ELANE-related condition | ClinVar Annotator: match by term: Neutropenia, severe congenital, 1, autosomal dominant

PMID:3229910 PMID:9536098 PMID:10581030 PMID:11001877 PMID:11278653 More...

NCBI chr 6:599,392...604,925
Ensembl chr 6:601,217...604,725

G

T cell immune regulator 1, ATPase H+ transporting V0 subunit a3

ClinVar Annotator: match by term: Neutropenia, severe congenital, 1, autosomal dominant

NCBI chr 1:6,484,469...6,497,008
Ensembl chr 1:6,484,474...6,494,719

G

vacuolar protein sorting 13 homolog B

ClinVar Annotator: match by term: Neutropenia, severe congenital, 1, autosomal dominant

PMID:16648375 PMID:25741868 PMID:28492532

NCBI chr 8:93,899,666...94,737,123
Ensembl chr 8:93,901,284...94,735,262

Severe Congenital Neutropenia 10

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

galanin receptor 2

ClinVar Annotator: match by term: Neutropenia, severe congenital, 10, autosomal recessive

NCBI chr16:45,599,934...45,603,207
Ensembl chr16:45,600,038...45,602,561

G

signal recognition particle 68

ClinVar Annotator: match by term: Neutropenia, severe congenital, 10, autosomal recessive

NCBI chr16:45,607,216...45,649,357
Ensembl chr16:45,607,329...45,651,086

Severe Congenital Neutropenia 11, Autosomal Dominant

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

SEC61 translocon subunit alpha 1

ClinVar Annotator: match by term: Neutropenia, severe congenital, 11, autosomal dominant

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

severe congenital neutropenia 2

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

bromodomain testis associated

ClinVar Annotator: match by term: Neutropenia, severe congenital, 2, autosomal dominant

NCBI chr20:41,229,493...41,293,899
Ensembl chr20:41,229,643...41,280,341

G

BTB domain containing 8

ClinVar Annotator: match by term: Neutropenia, severe congenital, 2, autosomal dominant

NCBI chr20:41,181,673...41,216,768
Ensembl chr20:41,181,605...41,216,730

G

ClpB family mitochondrial disaggregase

ClinVar Annotator: match by term: Neutropenia, severe congenital, 2, autosomal dominant

PMID:25741868 PMID:28492532

NCBI chr 1:63,520,305...63,667,237
Ensembl chr 1:63,515,814...63,667,105

G

chromosome unknown C1orf146 homolog

ClinVar Annotator: match by term: Neutropenia, severe congenital, 2, autosomal dominant

NCBI chr20:41,007,096...41,030,494
Ensembl chr20:41,007,231...41,016,109

G

divergent protein kinase domain 1A

ClinVar Annotator: match by term: Neutropenia, severe congenital, 2, autosomal dominant

NCBI chr20:40,298,048...40,416,324
Ensembl chr20:40,298,090...40,415,123

G

ecotropic viral integration site 5

ClinVar Annotator: match by term: Neutropenia, severe congenital, 2, autosomal dominant

NCBI chr20:40,469,415...40,751,561
Ensembl chr20:40,470,911...40,746,422

G

growth factor independent 1 transcriptional repressor

ClinVar Annotator: match by term: Neutropenia, severe congenital, 2, autosomal dominant

PMID:9536098 PMID:11807637 PMID:12778173 PMID:17576681 PMID:20560965 More...

NCBI chr20:40,771,238...40,786,008
Ensembl chr20:40,776,816...40,783,717

G

glomulin, FKBP associated protein

ClinVar Annotator: match by term: Neutropenia, severe congenital, 2, autosomal dominant

NCBI chr20:40,950,948...41,007,120
Ensembl chr20:40,951,342...41,008,791

G

RNA polymerase II associated protein 2

ClinVar Annotator: match by term: Neutropenia, severe congenital, 2, autosomal dominant

NCBI chr20:40,863,401...40,950,981
Ensembl chr20:40,863,719...40,950,879

G

ribosomal protein L5

ClinVar Annotator: match by term: Neutropenia, severe congenital, 2, autosomal dominant

NCBI chr20:40,416,553...40,427,027
Ensembl chr20:40,413,897...40,427,060

severe congenital neutropenia 3

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ADAM metallopeptidase domain 15

ClinVar Annotator: match by term: Kostmann syndrome

NCBI chr20:8,767,836...8,779,399
Ensembl chr20:8,768,112...8,779,311

G

ADAMTS like 4

ClinVar Annotator: match by term: Kostmann syndrome

G

adenosine deaminase RNA specific

ClinVar Annotator: match by term: Kostmann syndrome

PMID:17187068 PMID:28492532

NCBI chr20:9,194,611...9,241,102
Ensembl chr20:9,219,937...9,241,329

G

acidic nuclear phosphoprotein 32 family member E

ClinVar Annotator: match by term: Kostmann syndrome

G

annexin A9

ClinVar Annotator: match by term: Kostmann syndrome

G

aph-1 homolog A, gamma-secretase subunit

ClinVar Annotator: match by term: Kostmann syndrome

G

aquaporin 10

ClinVar Annotator: match by term: Kostmann syndrome

PMID:17187068 PMID:28492532

NCBI chr20:9,489,562...9,506,229
Ensembl chr20:9,492,846...9,496,367

G

Rho/Rac guanine nucleotide exchange factor 2

ClinVar Annotator: match by term: Kostmann syndrome

NCBI chr20:7,884,220...7,927,738
Ensembl chr20:7,905,662...7,930,657

G

aryl hydrocarbon receptor nuclear translocator

ClinVar Annotator: match by term: Kostmann syndrome

G

ASH1 like histone lysine methyltransferase

ClinVar Annotator: match by term: Kostmann syndrome

NCBI chr20:8,290,606...8,499,991
Ensembl chr20:8,322,504...8,500,129

G

ATPase phospholipid transporting 8B2

ClinVar Annotator: match by term: Kostmann syndrome

PMID:17187068 PMID:28492532

NCBI chr20:9,466,397...9,491,705
Ensembl chr20:9,465,851...9,489,564

G

brevican

ClinVar Annotator: match by term: Kostmann syndrome

NCBI chr20:7,203,546...7,221,108
Ensembl chr20:7,203,378...7,220,973

G

bone gamma-carboxyglutamate protein

ClinVar Annotator: match by term: Kostmann syndrome

NCBI chr20:7,623,716...7,626,353
Ensembl chr20:7,623,883...7,624,812

G

BCL2 interacting protein like

ClinVar Annotator: match by term: Kostmann syndrome

G

C2 calcium dependent domain containing 4D

ClinVar Annotator: match by term: Kostmann syndrome

NCBI chr20:11,846,708...11,847,963
Ensembl chr20:11,846,792...11,847,853

G

carbonic anhydrase 14

ClinVar Annotator: match by term: Kostmann syndrome

G

chaperonin containing TCP1 subunit 3

ClinVar Annotator: match by term: Kostmann syndrome

NCBI chr20:7,518,729...7,545,296
Ensembl chr20:7,518,846...7,545,677

G

CDC42 small effector 1

ClinVar Annotator: match by term: Kostmann syndrome

NCBI chr20:12,633,187...12,636,838
Ensembl chr16:41,319,304...41,319,540
Ensembl chr16:41,319,304...41,319,540

G

CUGBP Elav-like family member 3

ClinVar Annotator: match by term: Kostmann syndrome

NCBI chr20:11,973,531...11,988,560
Ensembl chr20:11,981,181...11,992,302

G

ceramide synthase 2

ClinVar Annotator: match by term: Kostmann syndrome

G

cilia and flagella associated protein 141

ClinVar Annotator: match by term: Kostmann syndrome

PMID:17187068 PMID:28492532

NCBI chr20:9,615,258...9,622,816
Ensembl chr20:9,615,288...9,622,752

G

cingulin

ClinVar Annotator: match by term: Kostmann syndrome

NCBI chr20:12,155,782...12,183,849

G

cholinergic receptor nicotinic beta 2 subunit

ClinVar Annotator: match by term: Kostmann syndrome

PMID:17187068 PMID:28492532

NCBI chr20:9,245,803...9,255,430
Ensembl chr20:9,247,231...9,253,795

G

chromatin target of PRMT1

ClinVar Annotator: match by term: Kostmann syndrome

NCBI chr20:10,159,463...10,170,949
Ensembl chr20:10,154,734...10,170,883

G

circadian associated repressor of transcription

ClinVar Annotator: match by term: Kostmann syndrome

G

CDC28 protein kinase regulatory subunit 1B

ClinVar Annotator: match by term: Kostmann syndrome

NCBI chr20:8,849,411...8,854,022

G

CDC like kinase 2

ClinVar Annotator: match by term: Kostmann syndrome

NCBI chr20:8,562,334...8,578,880

G

cellular retinoic acid binding protein 2

ClinVar Annotator: match by term: Kostmann syndrome

NCBI chr20:7,159,022...7,164,586
Ensembl chr20:7,159,238...7,164,163

G

cysteine rich C-terminal 1

ClinVar Annotator: match by term: Kostmann syndrome

NCBI chr20:11,184,616...11,187,345

G

cAMP responsive element binding protein 3 like 4

ClinVar Annotator: match by term: Kostmann syndrome

NCBI chr20:9,839,137...9,848,413
Ensembl chr20:9,838,085...9,845,287

G

cornulin

ClinVar Annotator: match by term: Kostmann syndrome

NCBI chr20:11,280,298...11,285,906

G

CREB regulated transcription coactivator 2

ClinVar Annotator: match by term: Kostmann syndrome

NCBI chr20:9,853,094...9,864,843
Ensembl chr20:9,853,481...9,865,083

G

cathepsin K

ClinVar Annotator: match by term: Kostmann syndrome

G

cathepsin S

ClinVar Annotator: match by term: Kostmann syndrome

G

chromosome unknown C1orf43 homolog

ClinVar Annotator: match by term: Kostmann syndrome

PMID:17187068 PMID:28492532

NCBI chr20:9,601,210...9,617,238

G

chromosome unknown C1orf54 homolog

ClinVar Annotator: match by term: Kostmann syndrome

G

chromosome unknown C1orf56 homolog

ClinVar Annotator: match by term: Kostmann syndrome

G

death associated protein 3

ClinVar Annotator: match by term: Kostmann syndrome

NCBI chr20:8,122,440...8,174,665
Ensembl chr20:8,128,014...8,173,852

G

DC-STAMP domain containing 1

ClinVar Annotator: match by term: Kostmann syndrome

NCBI chr20:8,779,692...8,797,327
Ensembl chr20:8,779,754...8,797,306

G

DC-STAMP domain containing 2

ClinVar Annotator: match by term: Kostmann syndrome

NCBI chr20:8,797,630...8,812,512

G

DENN domain containing 4B

ClinVar Annotator: match by term: Kostmann syndrome

NCBI chr20:9,865,833...9,882,259
Ensembl chr20:9,868,106...9,881,465

G

dolichyl-phosphate mannosyltransferase subunit 3, regulatory

ClinVar Annotator: match by term: Kostmann syndrome

NCBI chr20:8,689,727...8,690,430

G

extracellular matrix protein 1

ClinVar Annotator: match by term: Kostmann syndrome

G

ephrin A1

ClinVar Annotator: match by term: Kostmann syndrome

NCBI chr20:8,695,446...8,702,556
Ensembl chr20:8,696,241...8,702,379

G

ephrin A3

ClinVar Annotator: match by term: Kostmann syndrome

NCBI chr20:8,742,383...8,751,275

G

ephrin A4

ClinVar Annotator: match by term: Kostmann syndrome

NCBI chr20:8,758,126...8,767,750
Ensembl chr20:8,761,883...8,766,830

G

endosulfine alpha

ClinVar Annotator: match by term: Kostmann syndrome

G

endosomal transmembrane epsin interactor 3

ClinVar Annotator: match by term: Kostmann syndrome

NCBI chr20:8,578,983...8,587,181
Ensembl chr20:8,579,435...8,587,399

G

farnesyl diphosphate synthase

ClinVar Annotator: match by term: Kostmann syndrome

NCBI chr20:8,514,311...8,526,363

G

flavin adenine dinucleotide synthetase 1

ClinVar Annotator: match by term: Kostmann syndrome

NCBI chr20:8,838,130...8,846,654
Ensembl chr20:8,837,892...8,846,043

G

GA binding protein transcription factor subunit beta 2

ClinVar Annotator: match by term: Kostmann syndrome

NCBI chr20:12,558,951...12,623,941

G

GATA zinc finger domain containing 2B

ClinVar Annotator: match by term: Kostmann syndrome

NCBI chr20:9,888,586...10,003,215
Ensembl chr20:9,888,705...10,000,099

G

glucosylceramidase beta 1

ClinVar Annotator: match by term: Kostmann syndrome

NCBI chr20:8,598,110...8,631,517
Ensembl chr20:8,598,628...8,630,990

G

glycosylated lysosomal membrane protein

ClinVar Annotator: match by term: Kostmann syndrome

NCBI chr20:7,566,424...7,572,018
Ensembl chr20:7,566,538...7,573,843

G

golgi phosphoprotein 3 like

ClinVar Annotator: match by term: Kostmann syndrome

G

gon-4 like

ClinVar Annotator: match by term: Kostmann syndrome

NCBI chr20:8,021,625...8,230,165
Ensembl chr20:8,025,074...8,127,097

G

G-patch domain containing 4

ClinVar Annotator: match by term: Kostmann syndrome

NCBI chr20:7,260,385...7,268,112
Ensembl chr20:7,262,763...7,270,442

G

hyaluronan and proteoglycan link protein 2

ClinVar Annotator: match by term: Kostmann syndrome

NCBI chr20:7,237,940...7,244,840
Ensembl chr20:7,238,281...7,240,183

G

HCLS1 associated protein X-1

ClinVar Annotator: match by term: Kostmann syndrome

PMID:9536098 PMID:10581030 PMID:11519978 PMID:16199547 PMID:17187068 More...

NCBI chr20:9,537,544...9,545,214
Ensembl chr20:9,537,525...9,545,299

G

hyperpolarization activated cyclic nucleotide gated potassium channel 3

ClinVar Annotator: match by term: Kostmann syndrome

NCBI chr20:8,546,609...8,558,911
Ensembl chr20:8,545,720...8,558,056

G

heparin binding growth factor

ClinVar Annotator: match by term: Kostmann syndrome

NCBI chr20:7,109,133...7,122,715
Ensembl chr20:7,119,450...7,122,834

G

HORMA domain containing 1

ClinVar Annotator: match by term: Kostmann syndrome

G

hornerin

ClinVar Annotator: match by term: Kostmann syndrome

NCBI chr20:11,439,492...11,442,174

G

interleukin 6 receptor

ClinVar Annotator: match by term: Kostmann syndrome

PMID:17187068 PMID:28492532

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

G

interleukin enhancer binding factor 2

ClinVar Annotator: match by term: Kostmann syndrome

NCBI chr20:10,129,912...10,147,376

G

insulin receptor related receptor

ClinVar Annotator: match by term: Kostmann syndrome

NCBI chr20:7,008,882...7,029,377
Ensembl chr20:7,010,504...7,028,557

G

integrator complex subunit 3

ClinVar Annotator: match by term: Kostmann syndrome

NCBI chr20:10,037,176...10,085,499

G

IQ motif containing GTPase activating protein 3

ClinVar Annotator: match by term: Kostmann syndrome

NCBI chr20:7,286,819...7,334,352
Ensembl chr20:7,286,886...7,333,284

G

interferon stimulated exonuclease gene 20 like 2

ClinVar Annotator: match by term: Kostmann syndrome

NCBI chr20:7,136,174...7,141,404
Ensembl chr20:7,136,956...7,141,140

G

involucrin

ClinVar Annotator: match by term: Kostmann syndrome

NCBI chr20:10,809,528...10,814,646

G

jumping translocation breakpoint

ClinVar Annotator: match by term: Kostmann syndrome

NCBI chr20:9,828,542...9,838,990
Ensembl chr20:9,829,085...9,838,819

G

potassium calcium-activated channel subfamily N member 3

ClinVar Annotator: match by term: Kostmann syndrome

NCBI chr20:8,961,833...9,124,728
Ensembl chr20:8,962,302...9,124,166

G

KH domain containing 4, pre-mRNA splicing factor

ClinVar Annotator: match by term: Kostmann syndrome

NCBI chr20:7,941,544...7,964,325
Ensembl chr20:7,941,613...7,963,603

G

KPRP N-terminal and LCE C-terminal like protein

ClinVar Annotator: match by term: Kostmann syndrome

NCBI chr20:10,991,430...10,994,306
Ensembl chr20:10,993,289...10,994,104

G

keratinocyte proline rich protein

ClinVar Annotator: match by term: Kostmann syndrome

NCBI chr20:10,955,183...10,959,767
Ensembl chr20:10,955,971...10,957,707

G

keratinocyte associated protein 2

ClinVar Annotator: match by term: Kostmann syndrome

NCBI chr20:8,659,239...8,666,375
Ensembl chr20:8,658,881...8,666,831

G

late endosomal/lysosomal adaptor, MAPK and MTOR activator 2

ClinVar Annotator: match by term: Kostmann syndrome

NCBI chr20:7,806,509...7,810,296
Ensembl chr20:7,806,510...7,810,456

G

late cornified envelope 6A

ClinVar Annotator: match by term: Kostmann syndrome

NCBI chr20:10,878,229...10,879,885
Ensembl chr20:10,878,566...10,878,805

G

late cornified envelope like proline rich 1

ClinVar Annotator: match by term: Kostmann syndrome

NCBI chr20:10,550,088...10,552,203
Ensembl chr20:10,550,213...10,550,491

G

lens epithelial protein

ClinVar Annotator: match by term: Kostmann syndrome

NCBI chr20:8,836,074...8,838,034
Ensembl chr20:8,837,451...8,837,633

G

leucine rich repeat and Ig domain containing 4

ClinVar Annotator: match by term: Kostmann syndrome

NCBI chr20:11,881,186...11,886,931
Ensembl chr20:11,884,472...11,886,253

G

lamin A/C

ClinVar Annotator: match by term: Kostmann syndrome

NCBI chr20:7,723,059...7,748,799
Ensembl chr20:7,723,477...7,748,780

G

late cornified envelope protein 3B

ClinVar Annotator: match by term: Kostmann syndrome

NCBI chr20:11,088,496...11,090,742

G

loricrin cornified envelope precursor protein

ClinVar Annotator: match by term: Kostmann syndrome

NCBI chr20:10,494,570...10,497,944

G

LysM domain containing 1

ClinVar Annotator: match by term: Kostmann syndrome

NCBI chr20:12,523,798...12,541,970
Ensembl chr20:12,524,487...12,529,496

G

MCL1 apoptosis regulator, BCL2 family member

ClinVar Annotator: match by term: Kostmann syndrome

G

myocyte enhancer factor 2D

ClinVar Annotator: match by term: Kostmann syndrome

NCBI chr20:7,358,647...7,394,068
Ensembl chr20:7,358,653...7,396,972

G

methyltransferase like 25B

ClinVar Annotator: match by term: Kostmann syndrome

NCBI chr20:7,127,876...7,136,051
Ensembl chr20:7,123,538...7,135,961

G

mex-3 RNA binding family member A

ClinVar Annotator: match by term: Kostmann syndrome

NCBI chr20:7,781,766...7,793,373

G

MINDY lysine 48 deubiquitinase 1

ClinVar Annotator: match by term: Kostmann syndrome

G

MIR9-1 host gene

ClinVar Annotator: match by term: Kostmann syndrome

NCBI chr20:7,421,888...7,457,737

G

MLLT11 transcription factor 7 cofactor

ClinVar Annotator: match by term: Kostmann syndrome

NCBI chr20:12,625,224...12,635,589
Ensembl chr20:12,626,214...12,626,486

G

mitochondrial ribosomal protein L24

ClinVar Annotator: match by term: Kostmann syndrome

NCBI chr20:7,123,524...7,127,531

G

mitochondrial ribosomal protein L9

ClinVar Annotator: match by term: Kostmann syndrome

NCBI chr20:11,922,230...11,961,387
Ensembl chr20:11,922,239...11,962,254

G

mitochondrial ribosomal protein S21

ClinVar Annotator: match by term: Kostmann syndrome

G

misato mitochondrial distribution and morphology regulator 1

ClinVar Annotator: match by term: Kostmann syndrome

NCBI chr20:8,109,520...8,112,635

G

myotubularin related protein 11

ClinVar Annotator: match by term: Kostmann syndrome

G

metaxin 1

ClinVar Annotator: match by term: Kostmann syndrome

NCBI chr20:8,617,321...8,621,899

G

mucin 1, cell surface associated

ClinVar Annotator: match by term: Kostmann syndrome

NCBI chr20:8,641,701...8,646,739
Ensembl chr20:8,642,842...8,646,962

G

NAD(P)HX epimerase

ClinVar Annotator: match by term: Kostmann syndrome

NCBI chr20:7,267,885...7,270,440
Ensembl chr20:7,268,100...7,270,442

G

nestin

ClinVar Annotator: match by term: Kostmann syndrome

NCBI chr20:7,185,208...7,193,964
Ensembl chr20:7,185,390...7,193,983

G

natriuretic peptide receptor 1

ClinVar Annotator: match by term: Kostmann syndrome

NCBI chr20:10,115,319...10,131,933
Ensembl chr20:10,115,105...10,131,200

G

neurotrophic receptor tyrosine kinase 1

ClinVar Annotator: match by term: Kostmann syndrome

NCBI chr20:6,987,903...7,027,381
Ensembl chr20:6,987,905...7,008,670

G

nucleoporin 210 like

ClinVar Annotator: match by term: Kostmann syndrome

PMID:17187068 PMID:28492532

NCBI chr20:9,671,203...9,821,257
Ensembl chr20:9,671,482...9,815,252

G

ornithine decarboxylase antizyme 3

ClinVar Annotator: match by term: Kostmann syndrome

NCBI chr20:11,916,163...11,922,770

G

OTU deubiquitinase 7B

ClinVar Annotator: match by term: Kostmann syndrome

G

progestin and adipoQ receptor family member 6

ClinVar Annotator: match by term: Kostmann syndrome

NCBI chr20:7,618,905...7,622,977
Ensembl chr20:7,620,224...7,622,884

G

PBX homeobox interacting protein 1

ClinVar Annotator: match by term: Kostmann syndrome

NCBI chr20:8,872,492...8,884,029
Ensembl chr20:8,872,409...8,884,450

G

peptidoglycan recognition protein 3

ClinVar Annotator: match by term: Kostmann syndrome

NCBI chr20:10,445,996...10,459,908
Ensembl chr20:10,446,660...10,459,478

G

peptidoglycan recognition protein 4

ClinVar Annotator: match by term: Kostmann syndrome

NCBI chr20:10,406,242...10,422,989
Ensembl chr20:10,405,138...10,422,625

G

phosphatidylinositol 4-kinase beta

ClinVar Annotator: match by term: Kostmann syndrome

NCBI chr20:12,358,758...12,395,372
Ensembl chr20:12,358,762...12,394,661

G

phosphatidylinositol-4-phosphate 5-kinase type 1 alpha

ClinVar Annotator: match by term: Kostmann syndrome

NCBI chr20:12,439,726...12,490,331

G

pyruvate kinase L/R

ClinVar Annotator: match by term: Kostmann syndrome

NCBI chr20:8,540,228...8,547,184
Ensembl chr20:8,540,763...8,545,884

G

pleckstrin homology domain containing O1

ClinVar Annotator: match by term: Kostmann syndrome

G

polyamine modulated factor 1

ClinVar Annotator: match by term: Kostmann syndrome

NCBI chr20:7,627,084...7,655,751
Ensembl chr20:7,627,524...7,655,724

G

phosphomevalonate kinase

ClinVar Annotator: match by term: Kostmann syndrome

NCBI chr20:8,893,297...8,906,882
Ensembl chr20:8,894,786...8,906,873

G

pogo transposable element derived with ZNF domain

ClinVar Annotator: match by term: Kostmann syndrome

NCBI chr20:12,236,036...12,290,937
Ensembl chr20:12,236,145...12,290,956

G

proline rich mitotic checkpoint control factor

ClinVar Annotator: match by term: Kostmann syndrome

NCBI chr20:7,068,711...7,099,745
Ensembl chr20:7,068,333...7,099,339

G

pre-mRNA processing factor 3

ClinVar Annotator: match by term: Kostmann syndrome

G

proline rich 9

ClinVar Annotator: match by term: Kostmann syndrome

NCBI chr20:10,536,752...10,539,360
Ensembl chr20:10,537,569...10,537,916

G

prune exopolyphosphatase 1

ClinVar Annotator: match by term: Kostmann syndrome

G

proteasome 20S subunit beta 4

ClinVar Annotator: match by term: Kostmann syndrome

NCBI chr20:12,291,727...12,294,120
Ensembl chr20:12,291,070...12,294,311

G

proteasome 26S subunit ubiquitin receptor, non-ATPase 4

ClinVar Annotator: match by term: Kostmann syndrome

NCBI chr20:12,424,557...12,434,929

G

pygopus family PHD finger 2

ClinVar Annotator: match by term: Kostmann syndrome

NCBI chr20:8,866,928...8,871,645
Ensembl chr20:8,866,711...8,871,770

G

RAB13, member RAS oncogene family

ClinVar Annotator: match by term: Kostmann syndrome

NCBI chr20:9,832,220...9,836,890

G

RAB25, member RAS oncogene family

ClinVar Annotator: match by term: Kostmann syndrome

NCBI chr20:7,794,890...7,804,528
Ensembl chr20:7,794,884...7,804,246

G

regulatory factor X5

ClinVar Annotator: match by term: Kostmann syndrome

NCBI chr20:12,345,078...12,351,699
Ensembl chr20:12,345,063...12,352,646

G

Rh family B glycoprotein

ClinVar Annotator: match by term: Kostmann syndrome

NCBI chr20:7,475,404...7,493,109
Ensembl chr20:7,475,438...7,492,629

G

regulatory subunit of type II PKA R-subunit domain containing 1

ClinVar Annotator: match by term: Kostmann syndrome

NCBI chr20:11,960,766...11,969,119
Ensembl chr20:11,961,540...11,969,003

G

Ras like without CAAX 1

ClinVar Annotator: match by term: Kostmann syndrome

NCBI chr20:7,965,944...7,979,396
Ensembl chr20:7,966,057...7,976,819

G

RAR related orphan receptor C

ClinVar Annotator: match by term: Kostmann syndrome

NCBI chr20:11,854,911...11,880,221
Ensembl chr20:11,855,005...11,879,717

G

regulation of nuclear pre-mRNA domain containing 2

ClinVar Annotator: match by term: Kostmann syndrome

G

ribosomal protein S27

ClinVar Annotator: match by term: Kostmann syndrome

PMID:17187068 PMID:28492532

NCBI chr20:9,821,812...9,823,267

G

repetin

ClinVar Annotator: match by term: Kostmann syndrome

NCBI chr20:11,490,879...11,498,433

G

RUN and SH3 domain containing 1

ClinVar Annotator: match by term: Kostmann syndrome

NCBI chr20:8,504,123...8,514,113
Ensembl chr20:8,503,727...8,513,519

G

relaxin family peptide/INSL5 receptor 4

ClinVar Annotator: match by term: Kostmann syndrome

NCBI chr20:7,930,719...7,933,422

G

S100 calcium binding protein A1

ClinVar Annotator: match by term: Kostmann syndrome

NCBI chr20:10,172,916...10,176,905

G

S100 calcium binding protein A10

ClinVar Annotator: match by term: Kostmann syndrome

NCBI chr20:11,690,580...11,701,561

G

S100 calcium binding protein A11

ClinVar Annotator: match by term: Kostmann syndrome

NCBI chr20:11,613,171...11,617,711

G

S100 calcium binding protein A12

ClinVar Annotator: match by term: Kostmann syndrome

NCBI chr20:10,377,418...10,379,638

G

S100 calcium binding protein A13

ClinVar Annotator: match by term: Kostmann syndrome

NCBI chr20:10,177,062...10,186,382
Ensembl chr20:10,177,694...10,186,421

G

S100 calcium binding protein A14

ClinVar Annotator: match by term: Kostmann syndrome

NCBI chr20:10,188,016...10,190,973
Ensembl chr20:10,188,866...10,190,979

G

S100 calcium binding protein A16

ClinVar Annotator: match by term: Kostmann syndrome

NCBI chr20:10,192,117...10,198,257

G

S100 calcium binding protein A2

ClinVar Annotator: match by term: Kostmann syndrome

NCBI chr20:10,238,870...10,243,072
Ensembl chr20:10,240,451...10,243,294

G

S100 calcium binding protein A3

ClinVar Annotator: match by term: Kostmann syndrome

NCBI chr20:10,249,332...10,256,671
Ensembl chr20:10,255,515...10,256,318

G

S100 calcium binding protein A4

ClinVar Annotator: match by term: Kostmann syndrome

NCBI chr20:10,258,142...10,260,390
Ensembl chr20:10,258,070...10,260,871

G

S100 calcium binding protein A5

ClinVar Annotator: match by term: Kostmann syndrome

NCBI chr20:10,260,479...10,267,615
Ensembl chr20:10,263,814...10,266,685

G

S100 calcium binding protein A6

ClinVar Annotator: match by term: Kostmann syndrome

NCBI chr20:10,267,708...10,269,361
Ensembl chr20:10,267,556...10,269,405

G

S100 calcium binding protein A7

ClinVar Annotator: match by term: Kostmann syndrome

NCBI chr20:10,338,971...10,342,366

G

S100 calcium binding protein A8

ClinVar Annotator: match by term: Kostmann syndrome

NCBI chr20:10,363,142...10,364,293
Ensembl chr20:10,363,287...10,364,317

G

S100 calcium binding protein A9

ClinVar Annotator: match by term: Kostmann syndrome

NCBI chr20:10,391,965...10,395,216
Ensembl chr20:10,391,934...10,394,720

G

secretory carrier membrane protein 3

ClinVar Annotator: match by term: Kostmann syndrome

G

selenium binding protein 1

ClinVar Annotator: match by term: Kostmann syndrome

NCBI chr20:12,321,445...12,330,495
Ensembl chr20:12,321,292...12,330,746

G

semaphorin 4A

ClinVar Annotator: match by term: Kostmann syndrome

NCBI chr20:7,684,107...7,716,866
Ensembl chr20:7,683,994...7,708,741

G

semaphorin 6C

ClinVar Annotator: match by term: Kostmann syndrome

NCBI chr20:12,542,234...12,557,041
Ensembl chr20:12,546,281...12,560,674

G

SET domain bifurcated histone lysine methyltransferase 1

ClinVar Annotator: match by term: Kostmann syndrome

G

splicing factor 3b subunit 4

ClinVar Annotator: match by term: Kostmann syndrome

G

SH2 domain containing 2A

ClinVar Annotator: match by term: Kostmann syndrome

NCBI chr20:7,052,170...7,063,262
Ensembl chr20:7,052,797...7,062,324

G

SHC adaptor protein 1

ClinVar Annotator: match by term: Kostmann syndrome

NCBI chr20:8,854,189...8,866,406
Ensembl chr20:8,858,458...8,866,610

G

Src homology 2 domain containing E

ClinVar Annotator: match by term: Kostmann syndrome

PMID:17187068 PMID:28492532

NCBI chr20:9,324,123...9,358,509
Ensembl chr20:9,324,296...9,345,730

G

solute carrier family 25 member 44

ClinVar Annotator: match by term: Kostmann syndrome

NCBI chr20:7,655,836...7,675,356
Ensembl chr20:7,655,834...7,675,190

G

solute carrier family 27 member 3

ClinVar Annotator: match by term: Kostmann syndrome

NCBI chr20:10,031,007...10,037,082
Ensembl chr20:10,031,164...10,035,876

G

solute carrier family 39 member 1

ClinVar Annotator: match by term: Kostmann syndrome

NCBI chr20:9,847,928...9,852,998
Ensembl chr20:9,847,968...9,853,413

G

solute carrier family 50 member 1

ClinVar Annotator: match by term: Kostmann syndrome

NCBI chr20:8,691,479...8,694,993
Ensembl chr20:8,691,053...8,695,018

G

sperm mitochondria associated cysteine rich protein

ClinVar Annotator: match by term: Kostmann syndrome

NCBI chr20:10,838,176...10,844,211
Ensembl chr20:10,838,452...10,838,799

G

SMG5 nonsense mediated mRNA decay factor

ClinVar Annotator: match by term: Kostmann syndrome

NCBI chr20:7,579,716...7,618,060
Ensembl chr20:7,579,726...7,618,999

G

SNAP associated protein

ClinVar Annotator: match by term: Kostmann syndrome

NCBI chr20:10,147,577...10,150,721
Ensembl chr20:10,148,099...10,150,641

G

sorting nexin 27

ClinVar Annotator: match by term: Kostmann syndrome

NCBI chr20:11,997,768...12,083,929
Ensembl chr20:11,998,527...12,083,528

G

small proline rich protein 1A

ClinVar Annotator: match by term: Kostmann syndrome

NCBI chr20:10,746,202...10,751,822
Ensembl chr20:10,746,517...10,746,786

G

small proline rich protein 1B

ClinVar Annotator: match by term: Kostmann syndrome

NCBI chr20:10,696,266...10,699,361
Ensembl chr20:10,696,549...10,696,818

G

small proline rich protein 2G

ClinVar Annotator: match by term: Kostmann syndrome

NCBI chr20:10,602,861...10,617,406
Ensembl chr20:10,616,875...10,617,093

G

small proline rich protein 3

ClinVar Annotator: match by term: Kostmann syndrome

NCBI chr20:10,727,343...10,730,503
Ensembl chr20:10,727,669...10,728,196

G

small proline rich protein 4

ClinVar Annotator: match by term: Kostmann syndrome

G

signal sequence receptor subunit 2

ClinVar Annotator: match by term: Kostmann syndrome

NCBI chr20:7,844,461...7,856,869
Ensembl chr20:7,844,430...7,856,999

G

synaptotagmin 11

ClinVar Annotator: match by term: Kostmann syndrome

NCBI chr20:7,993,426...8,019,256
Ensembl chr20:7,992,988...8,019,238

G

threonyl-tRNA synthetase 2, mitochondrial

ClinVar Annotator: match by term: Kostmann syndrome

G

trichohyalin

ClinVar Annotator: match by term: Kostmann syndrome

NCBI chr20:11,529,328...11,545,510

G

trichohyalin like 1

ClinVar Annotator: match by term: Kostmann syndrome

NCBI chr20:11,562,589...11,568,863

G

tudor domain containing 10

ClinVar Annotator: match by term: Kostmann syndrome

PMID:17187068 PMID:28492532

NCBI chr20:9,275,380...9,323,531
Ensembl chr20:9,275,969...9,319,327

G

tudor and KH domain containing

ClinVar Annotator: match by term: Kostmann syndrome

NCBI chr20:11,895,882...11,916,981
Ensembl chr20:11,896,380...11,916,031

G

thrombospondin 3

ClinVar Annotator: match by term: Kostmann syndrome

NCBI chr20:8,621,706...8,640,252
Ensembl chr20:8,622,812...8,640,532

G

transmembrane protein 79

ClinVar Annotator: match by term: Kostmann syndrome

NCBI chr20:7,569,757...7,579,615
Ensembl chr20:7,566,538...7,579,605

G

tropomodulin 4

ClinVar Annotator: match by term: Kostmann syndrome

NCBI chr20:12,513,935...12,519,497
Ensembl chr20:12,515,429...12,519,402

G

TNF alpha induced protein 8 like 2

ClinVar Annotator: match by term: Kostmann syndrome

NCBI chr20:12,530,625...12,534,278
Ensembl chr20:12,531,052...12,533,694

G

tropomyosin 3

ClinVar Annotator: match by term: Kostmann syndrome

PMID:17187068 PMID:28492532

NCBI chr20:9,630,056...9,669,819
Ensembl chr20:9,638,678...9,653,039

G

tripartite motif containing 46

ClinVar Annotator: match by term: Kostmann syndrome

NCBI chr20:8,647,598...8,659,674
Ensembl chr20:8,648,373...8,658,600

G

TSSK6 activating cochaperone

ClinVar Annotator: match by term: Kostmann syndrome

NCBI chr20:7,509,738...7,518,637

G

tetratricopeptide repeat domain 24

ClinVar Annotator: match by term: Kostmann syndrome

NCBI chr20:7,275,898...7,289,531
Ensembl chr20:7,275,064...7,281,253

G

tuftelin 1

ClinVar Annotator: match by term: Kostmann syndrome

NCBI chr20:12,110,090...12,154,183
Ensembl chr20:12,109,717...12,154,201

G

ubiquitin associated protein 2 like

ClinVar Annotator: match by term: Kostmann syndrome

PMID:17187068 PMID:28492532

NCBI chr20:9,546,201...9,591,728
Ensembl chr20:9,545,581...9,591,659

G

ubiquitin conjugating enzyme E2 Q1

ClinVar Annotator: match by term: Kostmann syndrome

PMID:17187068 PMID:28492532

NCBI chr20:9,264,456...9,273,550
Ensembl chr20:9,264,225...9,274,979

G

ubiquilin 4

ClinVar Annotator: match by term: Kostmann syndrome

NCBI chr20:7,811,275...7,829,782

G

VHL like

ClinVar Annotator: match by term: Kostmann syndrome

NCBI chr20:7,563,857...7,564,909

G

vacuolar protein sorting 45 homolog

ClinVar Annotator: match by term: Kostmann syndrome

G

vacuolar protein sorting 72 homolog

ClinVar Annotator: match by term: Kostmann syndrome

NCBI chr20:12,498,627...12,513,838
Ensembl chr20:12,498,644...12,514,343

G

YY1 associated protein 1

ClinVar Annotator: match by term: Kostmann syndrome

G

zinc finger and BTB domain containing 7B

ClinVar Annotator: match by term: Kostmann syndrome

NCBI chr20:8,812,514...8,829,128
Ensembl chr20:8,812,351...8,817,286

G

zinc finger protein 687

ClinVar Annotator: match by term: Kostmann syndrome

NCBI chr20:12,395,592...12,405,898

severe congenital neutropenia 4

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

glucose-6-phosphatase catalytic subunit 3

ClinVar Annotator: match by term: Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency | ClinVar Annotator: match by term: G6PC3-related condition

PMID:9536098 PMID:16199547 PMID:17576681 PMID:19011569 PMID:19118303 More...

NCBI chr16:62,315,324...62,321,522
Ensembl chr16:62,315,624...62,321,512

severe congenital neutropenia 5

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ADAM metallopeptidase domain 15

ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome

NCBI chr20:8,767,836...8,779,399
Ensembl chr20:8,768,112...8,779,311

G

ADAMTS like 4

ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome

G

adenosine deaminase RNA specific

ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome

NCBI chr20:9,194,611...9,241,102
Ensembl chr20:9,219,937...9,241,329

G

acidic nuclear phosphoprotein 32 family member E

ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome

G

annexin A9

ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome

G

aph-1 homolog A, gamma-secretase subunit

ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome

G

aquaporin 10

ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome

NCBI chr20:9,489,562...9,506,229
Ensembl chr20:9,492,846...9,496,367

G

Rho/Rac guanine nucleotide exchange factor 2

ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome

NCBI chr20:7,884,220...7,927,738
Ensembl chr20:7,905,662...7,930,657

G

aryl hydrocarbon receptor nuclear translocator

ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome

G

ASH1 like histone lysine methyltransferase

ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome

NCBI chr20:8,290,606...8,499,991
Ensembl chr20:8,322,504...8,500,129

G

ATPase phospholipid transporting 8B2

ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome

NCBI chr20:9,466,397...9,491,705
Ensembl chr20:9,465,851...9,489,564

G

brevican

ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome

NCBI chr20:7,203,546...7,221,108
Ensembl chr20:7,203,378...7,220,973

G

bone gamma-carboxyglutamate protein

ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome

NCBI chr20:7,623,716...7,626,353
Ensembl chr20:7,623,883...7,624,812

G

BCL2 interacting protein like

ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome

G

C2 calcium dependent domain containing 4D

ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome

NCBI chr20:11,846,708...11,847,963
Ensembl chr20:11,846,792...11,847,853

G

carbonic anhydrase 14

ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome

G

chaperonin containing TCP1 subunit 3

ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome

NCBI chr20:7,518,729...7,545,296
Ensembl chr20:7,518,846...7,545,677

G

CDC42 small effector 1

ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome

NCBI chr20:12,633,187...12,636,838
Ensembl chr16:41,319,304...41,319,540
Ensembl chr16:41,319,304...41,319,540

G

CUGBP Elav-like family member 3

ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome

NCBI chr20:11,973,531...11,988,560
Ensembl chr20:11,981,181...11,992,302

G

ceramide synthase 2

ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome

G

cilia and flagella associated protein 141

ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome

NCBI chr20:9,615,258...9,622,816
Ensembl chr20:9,615,288...9,622,752

G

cingulin

ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome

NCBI chr20:12,155,782...12,183,849

G

cholinergic receptor nicotinic beta 2 subunit

ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome

NCBI chr20:9,245,803...9,255,430
Ensembl chr20:9,247,231...9,253,795

G

chromatin target of PRMT1

ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome

NCBI chr20:10,159,463...10,170,949
Ensembl chr20:10,154,734...10,170,883

G

circadian associated repressor of transcription

ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome

G

CDC28 protein kinase regulatory subunit 1B

ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome

NCBI chr20:8,849,411...8,854,022

G

CDC like kinase 2

ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome

NCBI chr20:8,562,334...8,578,880

G

cellular retinoic acid binding protein 2

ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome

NCBI chr20:7,159,022...7,164,586
Ensembl chr20:7,159,238...7,164,163

G

cysteine rich C-terminal 1

ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome

NCBI chr20:11,184,616...11,187,345

G

cAMP responsive element binding protein 3 like 4

ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome

NCBI chr20:9,839,137...9,848,413
Ensembl chr20:9,838,085...9,845,287

G

cornulin

ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome

NCBI chr20:11,280,298...11,285,906

G

CREB regulated transcription coactivator 2

ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome

NCBI chr20:9,853,094...9,864,843
Ensembl chr20:9,853,481...9,865,083

G

cathepsin K

ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome

G

cathepsin S

ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome

G

chromosome unknown C1orf43 homolog

ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome

NCBI chr20:9,601,210...9,617,238

G

chromosome unknown C1orf54 homolog

ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome

G

chromosome unknown C1orf56 homolog

ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome

G

death associated protein 3

ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome

NCBI chr20:8,122,440...8,174,665
Ensembl chr20:8,128,014...8,173,852

G

DC-STAMP domain containing 1

ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome

NCBI chr20:8,779,692...8,797,327
Ensembl chr20:8,779,754...8,797,306

G

DC-STAMP domain containing 2

ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome

NCBI chr20:8,797,630...8,812,512

G

DENN domain containing 4B

ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome

NCBI chr20:9,865,833...9,882,259
Ensembl chr20:9,868,106...9,881,465

G

dolichyl-phosphate mannosyltransferase subunit 3, regulatory

ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome

NCBI chr20:8,689,727...8,690,430

G

extracellular matrix protein 1

ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome

G

ephrin A1

ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome

NCBI chr20:8,695,446...8,702,556
Ensembl chr20:8,696,241...8,702,379

G

ephrin A3

ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome

NCBI chr20:8,742,383...8,751,275

G

ephrin A4

ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome

NCBI chr20:8,758,126...8,767,750
Ensembl chr20:8,761,883...8,766,830

G

endosulfine alpha

ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome

G

endosomal transmembrane epsin interactor 3

ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome

NCBI chr20:8,578,983...8,587,181
Ensembl chr20:8,579,435...8,587,399

G

farnesyl diphosphate synthase

ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome

NCBI chr20:8,514,311...8,526,363

G

flavin adenine dinucleotide synthetase 1

ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome

NCBI chr20:8,838,130...8,846,654
Ensembl chr20:8,837,892...8,846,043

G

GA binding protein transcription factor subunit beta 2

ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome

NCBI chr20:12,558,951...12,623,941

G

GATA zinc finger domain containing 2B

ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome

NCBI chr20:9,888,586...10,003,215
Ensembl chr20:9,888,705...10,000,099

G

glucosylceramidase beta 1

ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome

NCBI chr20:8,598,110...8,631,517
Ensembl chr20:8,598,628...8,630,990

G

glycosylated lysosomal membrane protein

ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome

NCBI chr20:7,566,424...7,572,018
Ensembl chr20:7,566,538...7,573,843

G

golgi phosphoprotein 3 like

ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome

G

gon-4 like

ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome

NCBI chr20:8,021,625...8,230,165
Ensembl chr20:8,025,074...8,127,097

G

G-patch domain containing 4

ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome

NCBI chr20:7,260,385...7,268,112
Ensembl chr20:7,262,763...7,270,442

G

hyaluronan and proteoglycan link protein 2

ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome

NCBI chr20:7,237,940...7,244,840
Ensembl chr20:7,238,281...7,240,183

G

HCLS1 associated protein X-1

ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome

NCBI chr20:9,537,544...9,545,214
Ensembl chr20:9,537,525...9,545,299

G

hyperpolarization activated cyclic nucleotide gated potassium channel 3

ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome

NCBI chr20:8,546,609...8,558,911
Ensembl chr20:8,545,720...8,558,056

G

heparin binding growth factor

ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome

NCBI chr20:7,109,133...7,122,715
Ensembl chr20:7,119,450...7,122,834

G

HORMA domain containing 1

ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome

G

hornerin

ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome

NCBI chr20:11,439,492...11,442,174

G

interleukin 6 receptor

ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome

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

G

interleukin enhancer binding factor 2

ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome

NCBI chr20:10,129,912...10,147,376

G

insulin receptor related receptor

ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome

NCBI chr20:7,008,882...7,029,377
Ensembl chr20:7,010,504...7,028,557

G

integrator complex subunit 3

ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome

NCBI chr20:10,037,176...10,085,499

G

IQ motif containing GTPase activating protein 3

ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome

NCBI chr20:7,286,819...7,334,352
Ensembl chr20:7,286,886...7,333,284

G

interferon stimulated exonuclease gene 20 like 2

ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome

NCBI chr20:7,136,174...7,141,404
Ensembl chr20:7,136,956...7,141,140

G

involucrin

ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome

NCBI chr20:10,809,528...10,814,646

G

jumping translocation breakpoint

ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome

NCBI chr20:9,828,542...9,838,990
Ensembl chr20:9,829,085...9,838,819

G

potassium calcium-activated channel subfamily N member 3

ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome

NCBI chr20:8,961,833...9,124,728
Ensembl chr20:8,962,302...9,124,166

G

KH domain containing 4, pre-mRNA splicing factor

ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome

NCBI chr20:7,941,544...7,964,325
Ensembl chr20:7,941,613...7,963,603

G

KPRP N-terminal and LCE C-terminal like protein

ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome

NCBI chr20:10,991,430...10,994,306
Ensembl chr20:10,993,289...10,994,104

G

keratinocyte proline rich protein

ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome

NCBI chr20:10,955,183...10,959,767
Ensembl chr20:10,955,971...10,957,707

G

keratinocyte associated protein 2

ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome

NCBI chr20:8,659,239...8,666,375
Ensembl chr20:8,658,881...8,666,831

G

late endosomal/lysosomal adaptor, MAPK and MTOR activator 2

ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome

NCBI chr20:7,806,509...7,810,296
Ensembl chr20:7,806,510...7,810,456

G

late cornified envelope 6A

ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome

NCBI chr20:10,878,229...10,879,885
Ensembl chr20:10,878,566...10,878,805

G

late cornified envelope like proline rich 1

ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome

NCBI chr20:10,550,088...10,552,203
Ensembl chr20:10,550,213...10,550,491

G

lens epithelial protein

ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome

NCBI chr20:8,836,074...8,838,034
Ensembl chr20:8,837,451...8,837,633

G

leucine rich repeat and Ig domain containing 4

ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome

NCBI chr20:11,881,186...11,886,931
Ensembl chr20:11,884,472...11,886,253

G

lamin A/C

ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome

NCBI chr20:7,723,059...7,748,799
Ensembl chr20:7,723,477...7,748,780

G

late cornified envelope protein 3B

ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome

NCBI chr20:11,088,496...11,090,742

G

loricrin cornified envelope precursor protein

ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome

NCBI chr20:10,494,570...10,497,944

G

LysM domain containing 1

ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome

NCBI chr20:12,523,798...12,541,970
Ensembl chr20:12,524,487...12,529,496

G

MCL1 apoptosis regulator, BCL2 family member

ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome

G

myocyte enhancer factor 2D

ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome

NCBI chr20:7,358,647...7,394,068
Ensembl chr20:7,358,653...7,396,972

G

methyltransferase like 25B

ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome

NCBI chr20:7,127,876...7,136,051
Ensembl chr20:7,123,538...7,135,961

G

mex-3 RNA binding family member A

ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome

NCBI chr20:7,781,766...7,793,373

G

MINDY lysine 48 deubiquitinase 1

ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome

G

MIR9-1 host gene

ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome

NCBI chr20:7,421,888...7,457,737

G

MLLT11 transcription factor 7 cofactor

ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome

NCBI chr20:12,625,224...12,635,589
Ensembl chr20:12,626,214...12,626,486

G

mitochondrial ribosomal protein L24

ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome

NCBI chr20:7,123,524...7,127,531

G

mitochondrial ribosomal protein L9

ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome

NCBI chr20:11,922,230...11,961,387
Ensembl chr20:11,922,239...11,962,254

G

mitochondrial ribosomal protein S21

ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome

G

misato mitochondrial distribution and morphology regulator 1

ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome

NCBI chr20:8,109,520...8,112,635

G

myotubularin related protein 11

ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome

G

metaxin 1

ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome

NCBI chr20:8,617,321...8,621,899

G

mucin 1, cell surface associated

ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome

NCBI chr20:8,641,701...8,646,739
Ensembl chr20:8,642,842...8,646,962

G

NAD(P)HX epimerase

ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome

NCBI chr20:7,267,885...7,270,440
Ensembl chr20:7,268,100...7,270,442

G

nestin

ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome

NCBI chr20:7,185,208...7,193,964
Ensembl chr20:7,185,390...7,193,983

G

natriuretic peptide receptor 1

ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome

NCBI chr20:10,115,319...10,131,933
Ensembl chr20:10,115,105...10,131,200

G

neurotrophic receptor tyrosine kinase 1

ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome

NCBI chr20:6,987,903...7,027,381
Ensembl chr20:6,987,905...7,008,670

G

nucleoporin 210 like

ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome

NCBI chr20:9,671,203...9,821,257
Ensembl chr20:9,671,482...9,815,252

G

ornithine decarboxylase antizyme 3

ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome

NCBI chr20:11,916,163...11,922,770

G

OTU deubiquitinase 7B

ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome

G

progestin and adipoQ receptor family member 6

ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome

NCBI chr20:7,618,905...7,622,977
Ensembl chr20:7,620,224...7,622,884

G

PBX homeobox interacting protein 1

ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome

NCBI chr20:8,872,492...8,884,029
Ensembl chr20:8,872,409...8,884,450

G

peptidoglycan recognition protein 3

ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome

NCBI chr20:10,445,996...10,459,908
Ensembl chr20:10,446,660...10,459,478

G

peptidoglycan recognition protein 4

ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome

NCBI chr20:10,406,242...10,422,989
Ensembl chr20:10,405,138...10,422,625

G

phosphatidylinositol 4-kinase beta

ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome

NCBI chr20:12,358,758...12,395,372
Ensembl chr20:12,358,762...12,394,661

G

phosphatidylinositol-4-phosphate 5-kinase type 1 alpha

ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome

NCBI chr20:12,439,726...12,490,331

G

pyruvate kinase L/R

ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome

NCBI chr20:8,540,228...8,547,184
Ensembl chr20:8,540,763...8,545,884

G

pleckstrin homology domain containing O1

ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome

G

polyamine modulated factor 1

ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome

NCBI chr20:7,627,084...7,655,751
Ensembl chr20:7,627,524...7,655,724

G

phosphomevalonate kinase

ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome

NCBI chr20:8,893,297...8,906,882
Ensembl chr20:8,894,786...8,906,873

G

pogo transposable element derived with ZNF domain

ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome

NCBI chr20:12,236,036...12,290,937
Ensembl chr20:12,236,145...12,290,956

G

proline rich mitotic checkpoint control factor

ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome

NCBI chr20:7,068,711...7,099,745
Ensembl chr20:7,068,333...7,099,339

G

pre-mRNA processing factor 3

ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome

G

proline rich 9

ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome

NCBI chr20:10,536,752...10,539,360
Ensembl chr20:10,537,569...10,537,916

G

prune exopolyphosphatase 1

ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome

G

proteasome 20S subunit beta 4

ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome

NCBI chr20:12,291,727...12,294,120
Ensembl chr20:12,291,070...12,294,311

G

proteasome 26S subunit ubiquitin receptor, non-ATPase 4

ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome

NCBI chr20:12,424,557...12,434,929

G

pygopus family PHD finger 2

ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome

NCBI chr20:8,866,928...8,871,645
Ensembl chr20:8,866,711...8,871,770

G

RAB13, member RAS oncogene family

ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome

NCBI chr20:9,832,220...9,836,890

G

RAB25, member RAS oncogene family

ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome

NCBI chr20:7,794,890...7,804,528
Ensembl chr20:7,794,884...7,804,246

G

regulatory factor X5

ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome

NCBI chr20:12,345,078...12,351,699
Ensembl chr20:12,345,063...12,352,646

G

Rh family B glycoprotein

ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome

NCBI chr20:7,475,404...7,493,109
Ensembl chr20:7,475,438...7,492,629

G

regulatory subunit of type II PKA R-subunit domain containing 1

ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome

NCBI chr20:11,960,766...11,969,119
Ensembl chr20:11,961,540...11,969,003

G

Ras like without CAAX 1

ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome

NCBI chr20:7,965,944...7,979,396
Ensembl chr20:7,966,057...7,976,819

G

RAR related orphan receptor C

ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome

NCBI chr20:11,854,911...11,880,221
Ensembl chr20:11,855,005...11,879,717

G

regulation of nuclear pre-mRNA domain containing 2

ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome

G

ribosomal protein S27

ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome

NCBI chr20:9,821,812...9,823,267

G

repetin

ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome

NCBI chr20:11,490,879...11,498,433

G

RUN and SH3 domain containing 1

ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome

NCBI chr20:8,504,123...8,514,113
Ensembl chr20:8,503,727...8,513,519

G

relaxin family peptide/INSL5 receptor 4

ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome

NCBI chr20:7,930,719...7,933,422

G

S100 calcium binding protein A1

ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome

NCBI chr20:10,172,916...10,176,905

G

S100 calcium binding protein A10

ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome

NCBI chr20:11,690,580...11,701,561

G

S100 calcium binding protein A11

ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome

NCBI chr20:11,613,171...11,617,711

G

S100 calcium binding protein A12

ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome

NCBI chr20:10,377,418...10,379,638

G

S100 calcium binding protein A13

ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome

NCBI chr20:10,177,062...10,186,382
Ensembl chr20:10,177,694...10,186,421

G

S100 calcium binding protein A14

ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome

NCBI chr20:10,188,016...10,190,973
Ensembl chr20:10,188,866...10,190,979

G

S100 calcium binding protein A16

ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome

NCBI chr20:10,192,117...10,198,257

G

S100 calcium binding protein A2

ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome

NCBI chr20:10,238,870...10,243,072
Ensembl chr20:10,240,451...10,243,294

G

S100 calcium binding protein A3

ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome

NCBI chr20:10,249,332...10,256,671
Ensembl chr20:10,255,515...10,256,318

G

S100 calcium binding protein A4

ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome

NCBI chr20:10,258,142...10,260,390
Ensembl chr20:10,258,070...10,260,871

G

S100 calcium binding protein A5

ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome

NCBI chr20:10,260,479...10,267,615
Ensembl chr20:10,263,814...10,266,685

G

S100 calcium binding protein A6

ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome

NCBI chr20:10,267,708...10,269,361
Ensembl chr20:10,267,556...10,269,405

G

S100 calcium binding protein A7

ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome

NCBI chr20:10,338,971...10,342,366

G

S100 calcium binding protein A8

ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome

NCBI chr20:10,363,142...10,364,293
Ensembl chr20:10,363,287...10,364,317

G

S100 calcium binding protein A9

ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome

NCBI chr20:10,391,965...10,395,216
Ensembl chr20:10,391,934...10,394,720

G

secretory carrier membrane protein 3

ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome

G

selenium binding protein 1

ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome

NCBI chr20:12,321,445...12,330,495
Ensembl chr20:12,321,292...12,330,746

G

semaphorin 4A

ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome

NCBI chr20:7,684,107...7,716,866
Ensembl chr20:7,683,994...7,708,741

G

semaphorin 6C

ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome

NCBI chr20:12,542,234...12,557,041
Ensembl chr20:12,546,281...12,560,674

G

SET domain bifurcated histone lysine methyltransferase 1

ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome

G

splicing factor 3b subunit 4

ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome

G

SH2 domain containing 2A

ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome

NCBI chr20:7,052,170...7,063,262
Ensembl chr20:7,052,797...7,062,324

G

SHC adaptor protein 1

ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome

NCBI chr20:8,854,189...8,866,406
Ensembl chr20:8,858,458...8,866,610

G

Src homology 2 domain containing E

ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome

NCBI chr20:9,324,123...9,358,509
Ensembl chr20:9,324,296...9,345,730

G

solute carrier family 25 member 44

ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome

NCBI chr20:7,655,836...7,675,356
Ensembl chr20:7,655,834...7,675,190

G

solute carrier family 27 member 3

ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome

NCBI chr20:10,031,007...10,037,082
Ensembl chr20:10,031,164...10,035,876

G

solute carrier family 39 member 1

ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome

NCBI chr20:9,847,928...9,852,998
Ensembl chr20:9,847,968...9,853,413

G

solute carrier family 50 member 1

ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome

NCBI chr20:8,691,479...8,694,993
Ensembl chr20:8,691,053...8,695,018

G

sperm mitochondria associated cysteine rich protein

ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome

NCBI chr20:10,838,176...10,844,211
Ensembl chr20:10,838,452...10,838,799

G

SMG5 nonsense mediated mRNA decay factor

ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome

NCBI chr20:7,579,716...7,618,060
Ensembl chr20:7,579,726...7,618,999

G

SNAP associated protein

ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome

NCBI chr20:10,147,577...10,150,721
Ensembl chr20:10,148,099...10,150,641

G

sorting nexin 27

ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome

NCBI chr20:11,997,768...12,083,929
Ensembl chr20:11,998,527...12,083,528

G

small proline rich protein 1A

ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome

NCBI chr20:10,746,202...10,751,822
Ensembl chr20:10,746,517...10,746,786

G

small proline rich protein 1B

ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome

NCBI chr20:10,696,266...10,699,361
Ensembl chr20:10,696,549...10,696,818

G

small proline rich protein 2G

ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome

NCBI chr20:10,602,861...10,617,406
Ensembl chr20:10,616,875...10,617,093

G

small proline rich protein 3

ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome

NCBI chr20:10,727,343...10,730,503
Ensembl chr20:10,727,669...10,728,196

G

small proline rich protein 4

ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome

G

signal sequence receptor subunit 2

ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome

NCBI chr20:7,844,461...7,856,869
Ensembl chr20:7,844,430...7,856,999

G

synaptotagmin 11

ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome

NCBI chr20:7,993,426...8,019,256
Ensembl chr20:7,992,988...8,019,238

G

threonyl-tRNA synthetase 2, mitochondrial

ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome

G

trichohyalin

ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome

NCBI chr20:11,529,328...11,545,510

G

trichohyalin like 1

ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome

NCBI chr20:11,562,589...11,568,863

G

tudor domain containing 10

ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome

NCBI chr20:9,275,380...9,323,531
Ensembl chr20:9,275,969...9,319,327

G

tudor and KH domain containing

ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome

NCBI chr20:11,895,882...11,916,981
Ensembl chr20:11,896,380...11,916,031

G

thrombospondin 3

ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome

NCBI chr20:8,621,706...8,640,252
Ensembl chr20:8,622,812...8,640,532

G

transmembrane protein 79

ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome

NCBI chr20:7,569,757...7,579,615
Ensembl chr20:7,566,538...7,579,605

G

tropomodulin 4

ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome

NCBI chr20:12,513,935...12,519,497
Ensembl chr20:12,515,429...12,519,402

G

TNF alpha induced protein 8 like 2

ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome

NCBI chr20:12,530,625...12,534,278
Ensembl chr20:12,531,052...12,533,694

G

tropomyosin 3

ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome

NCBI chr20:9,630,056...9,669,819
Ensembl chr20:9,638,678...9,653,039

G

tripartite motif containing 46

ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome

NCBI chr20:8,647,598...8,659,674
Ensembl chr20:8,648,373...8,658,600

G

TSSK6 activating cochaperone

ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome

NCBI chr20:7,509,738...7,518,637

G

tetratricopeptide repeat domain 24

ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome

NCBI chr20:7,275,898...7,289,531
Ensembl chr20:7,275,064...7,281,253

G

tuftelin 1

ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome

NCBI chr20:12,110,090...12,154,183
Ensembl chr20:12,109,717...12,154,201

G

ubiquitin associated protein 2 like

ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome

NCBI chr20:9,546,201...9,591,728
Ensembl chr20:9,545,581...9,591,659

G

ubiquitin conjugating enzyme E2 Q1

ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome

NCBI chr20:9,264,456...9,273,550
Ensembl chr20:9,264,225...9,274,979

G

ubiquilin 4

ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome

NCBI chr20:7,811,275...7,829,782

G

VHL like

ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome

NCBI chr20:7,563,857...7,564,909

G

vacuolar protein sorting 45 homolog

ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome | ClinVar Annotator: match by term: Severe congenital neutropenia 5, autosomal recessive

PMID:9536098 PMID:17576681 PMID:23599270 PMID:23738510 PMID:25640679 More...

G

vacuolar protein sorting 72 homolog

ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome

NCBI chr20:12,498,627...12,513,838
Ensembl chr20:12,498,644...12,514,343

G

YY1 associated protein 1

ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome

G

zinc finger and BTB domain containing 7B

ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome

NCBI chr20:8,812,514...8,829,128
Ensembl chr20:8,812,351...8,817,286

G

zinc finger protein 687

ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome

NCBI chr20:12,395,592...12,405,898

severe congenital neutropenia 6

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

BRICK1 subunit of SCAR/WAVE actin nucleating complex

ClinVar Annotator: match by term: Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency

NCBI chr22:46,157,063...46,169,833
Ensembl chr22:46,156,652...46,170,546

G

cell death inducing DFFA like effector c

ClinVar Annotator: match by term: Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency

NCBI chr22:45,895,455...45,917,236
Ensembl chr22:45,895,249...45,910,658

G

cysteine rich with EGF like domains 1

ClinVar Annotator: match by term: Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency

NCBI chr22:45,960,253...45,969,973
Ensembl chr22:45,961,010...45,969,712

G

ER membrane protein complex subunit 3

ClinVar Annotator: match by term: Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency

NCBI chr22:45,990,708...46,015,697
Ensembl chr22:45,987,731...46,015,712

G

FA complementation group D2

ClinVar Annotator: match by term: Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency

NCBI chr22:46,072,797...46,141,107
Ensembl chr22:46,072,761...46,140,713

G

FANCD2 opposite strand

ClinVar Annotator: match by term: Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency

NCBI chr22:46,144,575...46,150,638
Ensembl chr22:46,144,859...46,145,392

G

interleukin 17 receptor C

ClinVar Annotator: match by term: Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency

NCBI chr22:45,944,385...45,960,188
Ensembl chr22:45,944,669...45,960,164

G

interleukin 17 receptor E

ClinVar Annotator: match by term: Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency

NCBI chr22:45,929,339...45,943,749

G

jagunal homolog 1

ClinVar Annotator: match by term: Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency | ClinVar Annotator: match by term: Severe congenital neutropenia 6, autosomal recessive

PMID:9536098 PMID:17576681 PMID:25129144 PMID:25741868 PMID:25851723 More...

NCBI chr22:45,917,319...45,921,082
Ensembl chr22:45,917,444...45,920,250

G

proline rich transmembrane protein 3

ClinVar Annotator: match by term: Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency

NCBI chr22:45,970,474...45,978,764
Ensembl chr22:45,971,148...45,975,076

G

von Hippel-Lindau tumor suppressor

ClinVar Annotator: match by term: Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency

NCBI chr22:46,184,621...46,203,065
Ensembl chr22:46,184,756...46,204,428

severe congenital neutropenia 7

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

colony stimulating factor 3 receptor

ClinVar Annotator: match by term: Autosomal recessive severe congenital neutropenia due to CSF3R deficiency | ClinVar Annotator: match by term: Neutropenia, severe congenital, 7, autosomal recessive

PMID:9536098 PMID:10449521 PMID:16199547 PMID:17576681 PMID:23604229 More...

NCBI chr20:96,380,798...96,397,745
Ensembl chr20:96,384,222...96,398,618

severe congenital neutropenia 8

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

signal recognition particle 54

ClinVar Annotator: match by term: Neutropenia, severe congenital, 8, autosomal dominant | ClinVar Annotator: match by term: SHWACHMAN-DIAMOND SYNDROME-LIKE

PMID:25741868 PMID:28492532 PMID:28972538 PMID:29914977

NCBI chr24:11,802,671...11,846,534
Ensembl chr24:11,812,672...11,846,675

Severe Congenital Neutropenia 9, Autosomal Dominant

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ClpB family mitochondrial disaggregase

ClinVar Annotator: match by term: Neutropenia, severe congenital, 9, autosomal dominant

PMID:25741868 PMID:28492532 PMID:32313153 PMID:34115842 PMID:34140661

NCBI chr 1:63,520,305...63,667,237
Ensembl chr 1:63,515,814...63,667,105

Short Stature, Optic Nerve Atrophy, and Pelger-Huet Anomaly

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

NBAS subunit of NRZ tethering complex

ClinVar Annotator: match by term: NBAS-related condition | ClinVar Annotator: match by term: Short stature, optic nerve atrophy, and Pelger-Huet anomaly

PMID:9536098 PMID:16199547 PMID:17576681 PMID:20577004 PMID:24033266 More...

NCBI chr14:92,045,416...92,475,079
Ensembl chr14:92,078,045...92,474,944

SM-AHNMD

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ASXL transcriptional regulator 1

disease_progression

DNA:mutations: :

NCBI chr 2:36,735,449...36,810,447
Ensembl chr 2:36,735,830...36,812,387

Specific Granule Deficiency

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

apoptotic chromatin condensation inducer 1

ClinVar Annotator: match by term: Specific granule deficiency

NCBI chr29:23,427,866...23,464,717
Ensembl chr29:23,427,573...23,464,394

G

adenylate cyclase 4

ClinVar Annotator: match by term: Specific granule deficiency

NCBI chr24:1,301,445...1,318,171
Ensembl chr24:1,301,506...1,316,868

G

ajuba LIM protein

ClinVar Annotator: match by term: Specific granule deficiency

NCBI chr29:23,341,841...23,352,630
Ensembl chr29:23,341,249...23,352,685

G

adaptor related protein complex 1 subunit gamma 2

ClinVar Annotator: match by term: Specific granule deficiency

NCBI chr29:23,930,703...23,939,239
Ensembl chr29:23,929,216...23,938,553

G

capping protein regulator and myosin 1 linker 3

ClinVar Annotator: match by term: Specific granule deficiency

NCBI chr24:1,034,790...1,053,169
Ensembl chr24:1,035,947...1,052,844

G

cerebellin 3 precursor

ClinVar Annotator: match by term: Specific granule deficiency

NCBI chr24:1,409,147...1,412,140
Ensembl chr24:1,410,406...1,411,667

G

cadherin 24

ClinVar Annotator: match by term: Specific granule deficiency

NCBI chr29:23,416,449...23,427,764
Ensembl chr29:23,417,354...23,426,738

G

CCAAT enhancer binding protein epsilon

ClinVar Annotator: match by term: Specific granule deficiency

PMID:9536098 PMID:11313242 PMID:11435463 PMID:17576681 PMID:25741868 More...

NCBI chr29:23,485,966...23,488,615
Ensembl chr29:23,486,148...23,487,755

G

charged multivesicular body protein 4A

ClinVar Annotator: match by term: Specific granule deficiency

NCBI chr24:1,192,581...1,196,989
Ensembl chr24:1,192,842...1,197,742

G

cell death inducing DFFA like effector b

ClinVar Annotator: match by term: Specific granule deficiency

Ensembl chr24:1,287,932...1,291,573

G

chymase 1

ClinVar Annotator: match by term: Specific granule deficiency

NCBI chr24:1,471,767...1,475,062
Ensembl chr24:1,471,725...1,474,692

G

CKLF like MARVEL transmembrane domain containing 5

ClinVar Annotator: match by term: Specific granule deficiency

PMID:11313242 PMID:11435463 PMID:28492532

NCBI chr29:23,748,110...23,751,036
Ensembl chr29:23,748,548...23,750,651

G

copine 6

ClinVar Annotator: match by term: Specific granule deficiency

NCBI chr24:1,053,980...1,061,544
Ensembl chr24:1,054,488...1,061,578

G

cathepsin G

ClinVar Annotator: match by term: Specific granule deficiency

NCBI chr24:1,518,004...1,521,980
Ensembl chr24:1,518,119...1,520,709

G

chromosome unknown C14orf119 homolog

ClinVar Annotator: match by term: Specific granule deficiency

NCBI chr29:23,464,618...23,467,719

G

chromosome unknown C14orf93 homolog

ClinVar Annotator: match by term: Specific granule deficiency

NCBI chr29:23,356,885...23,381,273
Ensembl chr29:23,355,798...23,369,839

G

DDB1 and CUL4 associated factor 11

ClinVar Annotator: match by term: Specific granule deficiency

NCBI chr24:1,100,974...1,110,283
Ensembl chr24:1,101,653...1,111,965

G

dehydrogenase/reductase 1

ClinVar Annotator: match by term: Specific granule deficiency

NCBI chr24:1,273,717...1,282,761
Ensembl chr24:1,273,659...1,282,812

G

dehydrogenase/reductase 2

ClinVar Annotator: match by term: Specific granule deficiency

NCBI chr29:24,015,535...24,022,897
Ensembl chr29:24,016,071...24,022,500

G

dehydrogenase/reductase 4

ClinVar Annotator: match by term: Specific granule deficiency

NCBI chr29:24,170,090...24,185,509
Ensembl chr29:24,169,818...24,185,634

G

embryonal Fyn-associated substrate

ClinVar Annotator: match by term: Specific granule deficiency

PMID:11313242 PMID:11435463 PMID:28492532

NCBI chr29:23,727,820...23,737,585
Ensembl chr29:23,726,245...23,736,157

G

ER membrane protein complex subunit 9

ClinVar Annotator: match by term: Specific granule deficiency

NCBI chr24:1,124,905...1,127,574
Ensembl chr24:1,124,950...1,127,542

G

fat storage inducing transmembrane protein 1

ClinVar Annotator: match by term: Specific granule deficiency

NCBI chr24:1,116,201...1,118,814
Ensembl chr24:1,117,451...1,119,275

G

guanosine monophosphate reductase 2

ClinVar Annotator: match by term: Specific granule deficiency

NCBI chr24:1,215,137...1,222,219
Ensembl chr24:1,215,357...1,225,716

G

granzyme B

ClinVar Annotator: match by term: Specific granule deficiency

NCBI chr24:1,574,452...1,577,861
Ensembl chr24:1,574,453...1,577,798

G

granzyme H

ClinVar Annotator: match by term: Specific granule deficiency

NCBI chr24:1,545,819...1,549,376
Ensembl chr24:1,545,748...1,549,477

G

HAUS augmin like complex subunit 4

ClinVar Annotator: match by term: Specific granule deficiency

NCBI chr29:23,308,144...23,322,864

G

homeobox and leucine zipper encoding

ClinVar Annotator: match by term: Specific granule deficiency

PMID:11313242 PMID:11435463 PMID:28492532

NCBI chr29:23,647,513...23,666,201
Ensembl chr29:23,644,545...23,658,977

G

interleukin 25

ClinVar Annotator: match by term: Specific granule deficiency

PMID:11313242 PMID:11435463 PMID:28492532

NCBI chr29:23,742,377...23,747,902
Ensembl chr29:23,744,449...23,747,176

G

importin 4

ClinVar Annotator: match by term: Specific granule deficiency

NCBI chr24:1,165,892...1,174,660
Ensembl chr24:1,162,219...1,174,487

G

interferon regulatory factor 9

ClinVar Annotator: match by term: Specific granule deficiency

NCBI chr24:1,146,116...1,151,622
Ensembl chr24:1,146,618...1,151,546

G

junctophilin 4

ClinVar Annotator: match by term: Specific granule deficiency

NCBI chr29:23,939,262...23,949,646
Ensembl chr29:23,940,858...23,948,322

G

KH and NYN domain containing

ClinVar Annotator: match by term: Specific granule deficiency

NCBI chr24:1,412,264...1,420,960
Ensembl chr24:1,413,306...1,419,852

G

dehydrogenase/reductase SDR family member 4

ClinVar Annotator: match by term: Specific granule deficiency

NCBI chr24:1,020,086...1,032,242

G

polyadenylate-binding protein 2

ClinVar Annotator: match by term: Specific granule deficiency

PMID:11313242 PMID:11435463 PMID:28492532

NCBI chr29:23,692,252...23,697,882
Ensembl chr29:23,679,736...23,686,349
Ensembl chr29:23,679,736...23,686,349

G

myosin-6

ClinVar Annotator: match by term: Specific granule deficiency

PMID:11313242 PMID:11435463 PMID:28492532

NCBI chr29:23,753,251...23,780,822
Ensembl chr29:23,753,309...23,778,107

G

myosin-7

ClinVar Annotator: match by term: Specific granule deficiency

PMID:11313242 PMID:11435463 PMID:28492532

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

G

LDL receptor related protein 10

ClinVar Annotator: match by term: Specific granule deficiency

NCBI chr29:23,236,863...23,243,192
Ensembl chr29:23,236,539...23,242,638

G

leukotriene B4 receptor

ClinVar Annotator: match by term: Specific granule deficiency

NCBI chr24:1,294,453...1,301,113
Ensembl chr24:1,298,729...1,299,790

G

leukotriene B4 receptor 2

ClinVar Annotator: match by term: Specific granule deficiency

NCBI chr24:1,292,283...1,298,723
Ensembl chr24:1,293,587...1,294,756

G

matrix metallopeptidase 14

ClinVar Annotator: match by term: Specific granule deficiency

NCBI chr29:23,201,425...23,212,408
Ensembl chr29:23,201,112...23,212,679

G

mitochondrial ribosomal protein L52

ClinVar Annotator: match by term: Specific granule deficiency

NCBI chr29:23,194,380...23,198,960

G

NEDD8 ubiquitin like modifier

ClinVar Annotator: match by term: Specific granule deficiency

NCBI chr24:1,199,974...1,215,079

G

nuclear factor of activated T cells 4

ClinVar Annotator: match by term: Specific granule deficiency

NCBI chr24:1,352,173...1,362,150
Ensembl chr24:1,352,291...1,362,680

G

neuroguidin

ClinVar Annotator: match by term: Specific granule deficiency

NCBI chr29:23,840,583...23,848,726
Ensembl chr29:23,840,639...23,849,653

G

NOP9 nucleolar protein

ClinVar Annotator: match by term: Specific granule deficiency

NCBI chr24:1,282,877...1,288,265
Ensembl chr24:1,282,873...1,288,148

G

neural retina leucine zipper

ClinVar Annotator: match by term: Specific granule deficiency

NCBI chr24:1,064,266...1,100,995
Ensembl chr24:1,064,664...1,066,278

G

NYN domain and retroviral integrase containing

ClinVar Annotator: match by term: Specific granule deficiency

NCBI chr24:1,380,864...1,401,710
Ensembl chr24:1,381,483...1,401,750

G

phosphoenolpyruvate carboxykinase 2, mitochondrial

ClinVar Annotator: match by term: Specific granule deficiency

NCBI chr24:1,077,206...1,087,306
Ensembl chr24:1,077,447...1,087,607

G

protein phosphatase 1 regulatory subunit 3E

ClinVar Annotator: match by term: Specific granule deficiency

PMID:11313242 PMID:11435463 PMID:28492532

NCBI chr29:23,671,906...23,675,340
Ensembl chr29:23,673,995...23,675,136

G

protein arginine methyltransferase 5

ClinVar Annotator: match by term: Specific granule deficiency

NCBI chr29:23,288,458...23,297,746
Ensembl chr29:23,288,835...23,297,518

G

proteasome subunit beta 11

ClinVar Annotator: match by term: Specific granule deficiency

NCBI chr29:23,410,583...23,413,099
Ensembl chr29:23,411,557...23,412,459

G

proteasome 20S subunit beta 5

ClinVar Annotator: match by term: Specific granule deficiency

NCBI chr29:23,394,820...23,403,953
Ensembl chr29:23,390,401...23,403,658

G

proteasome activator subunit 1

ClinVar Annotator: match by term: Specific granule deficiency

NCBI chr24:1,122,086...1,124,907
Ensembl chr24:1,122,631...1,125,416

G

proteasome activator subunit 2

ClinVar Annotator: match by term: Specific granule deficiency

NCBI chr24:1,129,389...1,133,289
Ensembl chr24:1,129,419...1,132,596

G

Rab geranylgeranyltransferase subunit alpha

ClinVar Annotator: match by term: Specific granule deficiency

NCBI chr24:1,248,637...1,254,937
Ensembl chr24:1,248,393...1,266,254

G

RNA binding motif protein 23

ClinVar Annotator: match by term: Specific granule deficiency

NCBI chr29:23,267,941...23,287,097
Ensembl chr29:23,267,944...23,287,166

G

REC8 meiotic recombination protein

ClinVar Annotator: match by term: Specific granule deficiency

NCBI chr24:1,157,135...1,165,927

G

RRAD and GEM like GTPase 2

ClinVar Annotator: match by term: Specific granule deficiency

NCBI chr29:23,249,170...23,254,732
Ensembl chr29:23,250,334...23,253,988

G

receptor interacting serine/threonine kinase 3

ClinVar Annotator: match by term: Specific granule deficiency

NCBI chr24:1,318,265...1,322,610
Ensembl chr24:1,318,216...1,322,462

G

ring finger protein 212B

ClinVar Annotator: match by term: Specific granule deficiency

PMID:11313242 PMID:11435463 PMID:28492532

NCBI chr29:23,609,267...23,646,333
Ensembl chr29:23,611,965...23,644,935

G

ring finger protein 31

ClinVar Annotator: match by term: Specific granule deficiency

NCBI chr24:1,133,589...1,146,020
Ensembl chr24:1,133,723...1,142,943

G

short chain dehydrogenase/reductase family 39U member 1

ClinVar Annotator: match by term: Specific granule deficiency

NCBI chr24:1,422,339...1,425,490

G

solute carrier family 22 member 17

ClinVar Annotator: match by term: Specific granule deficiency

PMID:11313242 PMID:11435463 PMID:28492532

NCBI chr29:23,717,829...23,724,439

G

solute carrier family 7 member 7

ClinVar Annotator: match by term: Specific granule deficiency

NCBI chr29:23,135,583...23,183,472
Ensembl chr29:23,139,267...23,180,966

G

solute carrier family 7 member 8

ClinVar Annotator: match by term: Specific granule deficiency

PMID:11313242 PMID:11435463 PMID:28492532

NCBI chr29:23,493,987...23,556,834
Ensembl chr29:23,493,715...23,556,857

G

SWI/SNF related BAF chromatin remodeling complex subunit D2

CTD Direct Evidence: marker/mechanism

PMID:28369034 PMID:28369036

NCBI chr16:57,446,825...57,457,605
Ensembl chr16:57,447,137...57,456,754

G

transglutaminase 1

ClinVar Annotator: match by term: Specific granule deficiency

NCBI chr24:1,231,827...1,248,018
Ensembl chr24:1,232,004...1,245,462

G

thiamine triphosphatase

ClinVar Annotator: match by term: Specific granule deficiency

NCBI chr29:23,883,363...23,930,710
Ensembl chr29:23,926,813...23,929,981

G

TERF1 interacting nuclear factor 2

ClinVar Annotator: match by term: Specific granule deficiency

NCBI chr24:1,222,617...1,225,981
Ensembl chr24:1,222,999...1,225,716

G

transmembrane 9 superfamily member 1

ClinVar Annotator: match by term: Specific granule deficiency

NCBI chr24:1,174,808...1,181,558
Ensembl chr24:1,174,551...1,180,864

G

testis specific serine kinase 4

ClinVar Annotator: match by term: Specific granule deficiency

NCBI chr24:1,181,695...1,191,387
Ensembl chr24:1,189,063...1,191,287

G

zinc finger homeobox 2

ClinVar Annotator: match by term: Specific granule deficiency

NCBI chr29:23,891,343...23,926,507
Ensembl chr29:23,892,443...23,905,767

Specific Granule Deficiency 1

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

CCAAT enhancer binding protein epsilon

ClinVar Annotator: match by term: Specific granule deficiency 1

PMID:758416 PMID:4129798 PMID:6155073 PMID:7088114 PMID:10359588 More...

NCBI chr29:23,485,966...23,488,615
Ensembl chr29:23,486,148...23,487,755

G

SWI/SNF related BAF chromatin remodeling complex subunit D2

ClinVar Annotator: match by term: Specific granule deficiency 1

PMID:28369036 PMID:33279574

NCBI chr16:57,446,825...57,457,605
Ensembl chr16:57,447,137...57,456,754

Specific Granule Deficiency 2

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

SWI/SNF related BAF chromatin remodeling complex subunit D2

ClinVar Annotator: match by term: SMARCD2-related condition | ClinVar Annotator: match by term: Specific granule deficiency 2

PMID:9536098 PMID:17576681 PMID:25741868 PMID:28369036 PMID:28492532 More...

NCBI chr16:57,446,825...57,457,605
Ensembl chr16:57,447,137...57,456,754

splenic marginal zone lymphoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

CD79b molecule

protein:decreased expression:blood, B cell (human)

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

systemic mastocytosis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

heme oxygenase 1

CTD Direct Evidence: marker/mechanism

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

G

KIT proto-oncogene, receptor tyrosine kinase

ClinVar Annotator: match by term: Systemic mast cell disease

NCBI chr 7:13,808,104...13,891,003
Ensembl chr 7:13,808,037...13,890,976

T-CELL LYMPHOPENIA, INFANTILE, WITH OR WITHOUT NAIL DYSTROPHY, AUTOSOMAL DOMINANT

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

forkhead box N1

ClinVar Annotator: match by term: T-cell lymphopenia, infantile, with or without nail dystrophy, autosomal dominant

PMID:8911612 PMID:10206641 PMID:15180707 PMID:15897400 PMID:18339010 More...

NCBI chr16:22,291,597...22,306,977
Ensembl chr16:22,292,330...22,305,968

T-Cell OKT4 Deficiency

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

CD4 molecule

ClinVar Annotator: match by term: Okt4 epitope deficiency

PMID:1708753 PMID:1961196 PMID:7689618 PMID:25741868 PMID:33116287

NCBI chr11:6,824,797...6,856,440
Ensembl chr11:6,825,245...6,853,852

T-Lymphocytopenia

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

signal transducer and activator of transcription 5B

CTD Direct Evidence: marker/mechanism

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

G

thymocyte selection associated

DNA:frameshift mutation:

NCBI chr13:45,665,494...45,886,672
Ensembl chr13:45,682,663...45,884,856

transient myeloproliferative syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

GATA binding protein 1

ClinVar Annotator: match by term: Transient myeloproliferative syndrome

NCBI chr X:45,912,638...45,920,415
Ensembl chr X:45,917,231...45,920,268

urticaria pigmentosa

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

KIT proto-oncogene, receptor tyrosine kinase

ClinVar Annotator: match by term: MASTOCYTOSIS, MACULOPAPULAR CUTANEOUS

PMID:7479840 PMID:7691885 PMID:8589724 PMID:9827716 PMID:9990072 More...

NCBI chr 7:13,808,104...13,891,003
Ensembl chr 7:13,808,037...13,890,976

WHIM Syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

C-X-C motif chemokine receptor 4

ClinVar Annotator: match by term: Warts, hypogammaglobulinemia, infections, and myelokathexis

PMID:12692554 PMID:15026312 PMID:15536153 PMID:16275383 PMID:16899028 More...

NCBI chr10:20,336,470...20,340,308
Ensembl chr10:20,336,247...20,340,309

G

aspartyl-tRNA synthetase 1

ClinVar Annotator: match by term: Warts, hypogammaglobulinemia, infections, and myelokathexis

NCBI chr10:20,120,999...20,202,019
Ensembl chr10:20,119,914...20,201,991

G

lactase

ClinVar Annotator: match by term: Warts, hypogammaglobulinemia, infections, and myelokathexis

NCBI chr10:19,994,398...20,049,325
Ensembl chr10:19,994,384...20,049,097

G

minichromosome maintenance complex component 6

ClinVar Annotator: match by term: Warts, hypogammaglobulinemia, infections, and myelokathexis

NCBI chr10:20,053,726...20,089,571
Ensembl chr10:20,051,138...20,089,545

G

R3H domain containing 1

ClinVar Annotator: match by term: Warts, hypogammaglobulinemia, infections, and myelokathexis

NCBI chr10:19,739,973...19,935,345
Ensembl chr10:19,793,843...19,935,343

G

RAB3 GTPase activating protein catalytic subunit 1

ClinVar Annotator: match by term: Warts, hypogammaglobulinemia, infections, and myelokathexis

NCBI chr10:19,295,294...19,401,595
Ensembl chr10:19,295,351...19,402,212

G

UBX domain protein 4

ClinVar Annotator: match by term: Warts, hypogammaglobulinemia, infections, and myelokathexis

NCBI chr10:19,949,704...19,990,913
Ensembl chr10:19,949,788...19,990,383

G

zinc finger RANBP2-type containing 3

ClinVar Annotator: match by term: Warts, hypogammaglobulinemia, infections, and myelokathexis

NCBI chr10:19,428,139...19,739,886
Ensembl chr10:19,427,652...19,572,384

WHIM syndrome 1

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

C-X-C motif chemokine receptor 4

ClinVar Annotator: match by term: CXCR4-related condition | ClinVar Annotator: match by term: WHIM syndrome 1

PMID:12692554 PMID:15026312 PMID:15536153 PMID:16275383 PMID:16899028 More...

NCBI chr10:20,336,470...20,340,308
Ensembl chr10:20,336,247...20,340,309

WHIM syndrome 2

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

C-X-C chemokine receptor type 2

ClinVar Annotator: match by term: CXCR2-related condition | ClinVar Annotator: match by term: WHIM syndrome 2

PMID:24777453 PMID:25741868 PMID:28492532

NCBI chr10:104,012,906...104,025,599
Ensembl chr10:104,022,811...104,023,893

Wiskott-Aldrich syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

A-kinase anchoring protein 4

ClinVar Annotator: match by term: WISKOTT-ALDRICH SYNDROME 1

NCBI chr X:47,046,209...47,056,961
Ensembl chr X:47,046,240...47,056,319

G

bone morphogenetic protein 15

ClinVar Annotator: match by term: WISKOTT-ALDRICH SYNDROME 1

NCBI chr X:47,713,434...47,722,818
Ensembl chr X:47,713,957...47,719,777

G

calcium voltage-gated channel subunit alpha1 F

ClinVar Annotator: match by term: WISKOTT-ALDRICH SYNDROME 1

NCBI chr X:46,304,831...46,330,562

G

coiled-coil domain containing 120

ClinVar Annotator: match by term: WISKOTT-ALDRICH SYNDROME 1

NCBI chr X:46,161,238...46,178,128
Ensembl chr X:46,170,651...46,177,244

G

coiled-coil domain containing 22

ClinVar Annotator: match by term: WISKOTT-ALDRICH SYNDROME 1

NCBI chr X:46,330,215...46,349,978
Ensembl chr X:46,335,095...46,353,583

G

cyclin B3

ClinVar Annotator: match by term: WISKOTT-ALDRICH SYNDROME 1

NCBI chr X:47,059,747...47,142,911
Ensembl chr X:47,085,605...47,142,788

G

chloride voltage-gated channel 5

ClinVar Annotator: match by term: WISKOTT-ALDRICH SYNDROME 1

NCBI chr X:46,772,176...46,934,886
Ensembl chr X:46,772,305...46,927,861

G

diacylglycerol kinase kappa

ClinVar Annotator: match by term: WISKOTT-ALDRICH SYNDROME 1

NCBI chr X:47,156,308...47,265,027
Ensembl chr X:47,156,317...47,264,824

G

EBP cholestenol delta-isomerase

ClinVar Annotator: match by term: WISKOTT-ALDRICH SYNDROME 1

NCBI chr X:45,652,398...45,660,551
Ensembl chr X:45,653,356...45,660,291

G

ES cell expressed Ras

ClinVar Annotator: match by term: WISKOTT-ALDRICH SYNDROME 1

NCBI chr X:45,955,444...45,957,170
Ensembl chr X:45,955,803...45,956,504

G

forkhead box P3

ClinVar Annotator: match by term: WISKOTT-ALDRICH SYNDROME 1

NCBI chr X:46,349,890...46,365,133

G

GATA binding protein 1

ClinVar Annotator: match by term: WISKOTT-ALDRICH SYNDROME 1

NCBI chr X:45,912,638...45,920,415
Ensembl chr X:45,917,231...45,920,268

G

glyoxalase domain containing 5

ClinVar Annotator: match by term: WISKOTT-ALDRICH SYNDROME 1

NCBI chr X:45,888,220...45,900,316
Ensembl chr X:45,888,509...45,900,095

G

G-patch domain and KOW motifs

ClinVar Annotator: match by term: WISKOTT-ALDRICH SYNDROME 1

NCBI chr X:46,212,415...46,227,315
Ensembl chr X:46,209,373...46,227,250

G

GRIP1 associated protein 1

ClinVar Annotator: match by term: WISKOTT-ALDRICH SYNDROME 1

NCBI chr X:46,093,225...46,120,097
Ensembl chr X:46,091,584...46,120,097

G

histone deacetylase 6

ClinVar Annotator: match by term: WISKOTT-ALDRICH SYNDROME 1

NCBI chr X:45,927,625...45,951,636
Ensembl chr X:45,928,092...45,952,929

G

potassium voltage-gated channel subfamily D member 1

ClinVar Annotator: match by term: WISKOTT-ALDRICH SYNDROME 1

NCBI chr X:46,080,116...46,092,125
Ensembl chr X:46,081,711...46,089,762

G

MAGI family member, X-linked

ClinVar Annotator: match by term: WISKOTT-ALDRICH SYNDROME 1

NCBI chr X:46,260,076...46,264,187
Ensembl chr X:46,260,137...46,263,687

G

OTU deubiquitinase 5

ClinVar Annotator: match by term: WISKOTT-ALDRICH SYNDROME 1

NCBI chr X:46,041,348...46,077,195

G

PAGE family member 1

ClinVar Annotator: match by term: WISKOTT-ALDRICH SYNDROME 1

NCBI chr X:46,521,148...46,527,310
Ensembl chr X:46,521,157...46,527,310

G

PAGE family member 4

ClinVar Annotator: match by term: WISKOTT-ALDRICH SYNDROME 1

NCBI chr X:46,595,642...46,680,133
Ensembl chr X:46,676,607...46,678,837

G

proprotein convertase subtilisin/kexin type 1 inhibitor

ClinVar Annotator: match by term: WISKOTT-ALDRICH SYNDROME 1

NCBI chr X:45,957,760...45,962,588
Ensembl chr X:45,957,715...45,962,601

G

Pim-2 proto-oncogene, serine/threonine kinase

ClinVar Annotator: match by term: WISKOTT-ALDRICH SYNDROME 1

NCBI chr X:46,032,640...46,040,220

G

proteolipid protein 2

ClinVar Annotator: match by term: WISKOTT-ALDRICH SYNDROME 1

NCBI chr X:46,267,194...46,270,538

G

porcupine O-acyltransferase

ClinVar Annotator: match by term: WISKOTT-ALDRICH SYNDROME 1

NCBI chr X:45,639,836...45,652,301
Ensembl chr X:45,640,125...45,651,974

G

protein phosphatase 1 regulatory subunit 3F

ClinVar Annotator: match by term: WISKOTT-ALDRICH SYNDROME 1

NCBI chr X:46,369,087...46,387,335
Ensembl chr X:46,369,190...46,387,401

G

polyglutamine binding protein 1

ClinVar Annotator: match by term: WISKOTT-ALDRICH SYNDROME 1

NCBI chr X:46,014,664...46,020,204
Ensembl chr X:46,015,250...46,023,988

G

PRA1 domain family member 2

ClinVar Annotator: match by term: WISKOTT-ALDRICH SYNDROME 1

NCBI chr X:46,179,842...46,182,769
Ensembl chr X:46,179,835...46,183,552

G

prickle planar cell polarity protein 3

ClinVar Annotator: match by term: WISKOTT-ALDRICH SYNDROME 1

NCBI chr X:46,271,001...46,286,440
Ensembl chr X:46,266,985...46,283,689

G

RNA binding motif protein 3

ClinVar Annotator: match by term: WISKOTT-ALDRICH SYNDROME 1

NCBI chr X:45,702,974...45,707,064
Ensembl chr X:45,702,275...45,707,075

G

shroom family member 4

ClinVar Annotator: match by term: WISKOTT-ALDRICH SYNDROME 1

NCBI chr X:47,392,156...47,618,816
Ensembl chr X:47,397,570...47,616,973

G

solute carrier family 35 member A2

ClinVar Annotator: match by term: WISKOTT-ALDRICH SYNDROME 1

NCBI chr X:46,020,241...46,030,205
Ensembl chr X:46,017,681...46,030,200

G

SUV39H1 histone lysine methyltransferase

ClinVar Annotator: match by term: WISKOTT-ALDRICH SYNDROME 1

NCBI chr X:45,820,114...45,834,727
Ensembl chr X:45,822,453...45,834,917

G

synaptophysin

ClinVar Annotator: match by term: WISKOTT-ALDRICH SYNDROME 1

NCBI chr X:46,287,610...46,299,926
Ensembl chr X:46,287,282...46,299,773

G

TBC1 domain family member 25

ClinVar Annotator: match by term: WISKOTT-ALDRICH SYNDROME 1

NCBI chr X:45,671,217...45,691,307

G

transcription factor binding to IGHM enhancer 3

ClinVar Annotator: match by term: WISKOTT-ALDRICH SYNDROME 1

NCBI chr X:46,141,377...46,155,445
Ensembl chr X:46,140,543...46,155,372

G

translocase of inner mitochondrial membrane 17B

ClinVar Annotator: match by term: WISKOTT-ALDRICH SYNDROME 1

NCBI chr X:46,010,164...46,014,616
Ensembl chr X:46,010,446...46,014,510

G

ubiquitin specific peptidase 27 X-linked

ClinVar Annotator: match by term: WISKOTT-ALDRICH SYNDROME 1

NCBI chr X:46,718,329...46,728,205

G

WASP actin nucleation promoting factor

ClinVar Annotator: match by term: Aldrich syndrome | ClinVar Annotator: match by term: WISKOTT-ALDRICH SYNDROME 1 | ClinVar Annotator: match by term: Wiskott-Aldrich syndrome | ClinVar Annotator: match by term: Wiskott-Aldrich syndrome, attenuated

PMID:2906042 PMID:3284030 PMID:7579329 PMID:7579347 PMID:7735919 More...

NCBI chr X:45,809,418...45,817,165
Ensembl chr X:45,809,189...45,817,667

G

WASH complex subunit 4

OMIM:301000

NCBI chr11:100,333,806...100,395,930
Ensembl chr11:100,333,912...100,398,713

G

WD repeat domain 13

ClinVar Annotator: match by term: WISKOTT-ALDRICH SYNDROME 1

NCBI chr X:45,721,318...45,729,152
Ensembl chr X:45,721,406...45,733,103

G

WD repeat domain 45

ClinVar Annotator: match by term: WISKOTT-ALDRICH SYNDROME 1

NCBI chr X:46,183,278...46,188,564
Ensembl chr X:46,183,443...46,188,536

G

WAS/WASL interacting protein family member 1

CTD Direct Evidence: marker/mechanism

NCBI chr10:60,067,384...60,188,234
Ensembl chr10:60,067,015...60,142,823

G

WRN RecQ like helicase

ClinVar Annotator: match by term: Wiskott-Aldrich syndrome

PMID:10069711 PMID:10220139 PMID:16786514 PMID:18414213 PMID:19824023 More...

NCBI chr 8:29,150,256...29,288,830
Ensembl chr 8:29,174,229...29,289,129

Wiskott-Aldrich Syndrome 2

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

cholinergic receptor nicotinic alpha 1 subunit

ClinVar Annotator: match by term: Wiskott-Aldrich syndrome 2

NCBI chr10:60,279,837...60,298,931

G

WAS/WASL interacting protein family member 1

ClinVar Annotator: match by term: Wiskott-Aldrich syndrome 2

PMID:9536098 PMID:17576681 PMID:22231303 PMID:24033266 PMID:25741868 More...

NCBI chr10:60,067,384...60,188,234
Ensembl chr10:60,067,015...60,142,823

X-linked chronic granulomatous disease

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

cytochrome b-245 heavy chain

treatment

ClinVar Annotator: match by term: Granulomatous disease, chronic, X-linked | ClinVar Annotator: match by term: Granulomatous disease, chronic, X-linked, variant

OMIM
ClinVar
RGD

PMID:1347621 PMID:1438069 PMID:1520880 PMID:1710153 PMID:1719419 More...

G

dynein light chain Tctex-type 3

ClinVar Annotator: match by term: Granulomatous disease, chronic, X-linked

PMID:22929960 PMID:27701760 PMID:28492532

G

cytochrome b-245 light chain

ClinVar Annotator: match by term: Granulomatous disease, chronic, X-linked

NCBI chr 5:74,023,134...74,030,793
Ensembl chr 5:74,023,082...74,030,750

G

huntingtin-interacting protein M

ClinVar Annotator: match by term: Granulomatous disease, chronic, X-linked

PMID:22929960 PMID:27701760 PMID:28492532

G

neutrophil cytosolic factor 1

ClinVar Annotator: match by term: CYTOCHROME b-NEGATIVE GRANULOMATOUS DISEASE, CHRONIC, X-LINKED

NCBI chr28:8,334,172...8,349,828
Ensembl chr28:8,332,772...8,349,804

G

ornithine transcarbamylase

ClinVar Annotator: match by term: Granulomatous disease, chronic, X-linked

PMID:22929960 PMID:27701760 PMID:28492532

NCBI chr X:35,494,334...35,570,923
Ensembl chr X:35,494,287...35,570,845

G

retinitis pigmentosa GTPase regulator

ClinVar Annotator: match by term: Granulomatous disease, chronic, X-linked

PMID:22929960 PMID:27701760 PMID:28492532

NCBI chr 9:30,008,681...30,033,475

G

sushi repeat containing protein X-linked

ClinVar Annotator: match by term: Granulomatous disease, chronic, X-linked

PMID:22929960 PMID:27701760 PMID:28492532

G

synaptotagmin like 5

ClinVar Annotator: match by term: Granulomatous disease, chronic, X-linked

PMID:22929960 PMID:27701760 PMID:28492532

G

X-linked Kx blood group antigen, Kell and VPS13A binding protein

ClinVar Annotator: match by term: Granulomatous disease, chronic, X-linked

PMID:8634410 PMID:9585602 PMID:20729109 PMID:22929960 PMID:27701760 More...

X-linked dyserythropoietic anemia

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

GATA binding protein 1

ClinVar Annotator: match by term: ANEMIA, X-LINKED, WITH OR WITHOUT NEUTROPENIA AND/OR PLATELET ABNORMALITIES

PMID:871527 PMID:12200364 PMID:14691578 PMID:15895080 PMID:16783379 More...

NCBI chr X:45,912,638...45,920,415
Ensembl chr X:45,917,231...45,920,268

X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ATPase copper transporting alpha

ClinVar Annotator: match by term: X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia

PMID:24550228 PMID:28492532

NCBI chr X:66,843,519...66,985,655
Ensembl chr X:66,843,558...66,985,709

G

ATRX chromatin remodeler

ClinVar Annotator: match by term: X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia

NCBI chr X:66,449,830...66,737,220
Ensembl chr X:66,448,449...66,737,164

G

cytochrome c oxidase subunit 7B, mitochondrial

ClinVar Annotator: match by term: X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia

PMID:24550228 PMID:28492532

NCBI chr X:66,832,180...66,837,957

G

magnesium transporter 1

ClinVar Annotator: match by term: X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia

PMID:9536098 PMID:16199547 PMID:17576681 PMID:21796205 PMID:24550228 More...

NCBI chr X:66,798,408...66,829,249
Ensembl chr X:66,797,359...66,829,263

G

phosphoglycerate kinase 1

ClinVar Annotator: match by term: X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia

NCBI chr X:67,072,029...67,093,881

X-linked severe congenital neutropenia

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

A-kinase anchoring protein 4

ClinVar Annotator: match by term: X-linked severe congenital neutropenia

NCBI chr X:47,046,209...47,056,961
Ensembl chr X:47,046,240...47,056,319

G

bone morphogenetic protein 15

ClinVar Annotator: match by term: X-linked severe congenital neutropenia

NCBI chr X:47,713,434...47,722,818
Ensembl chr X:47,713,957...47,719,777

G

calcium voltage-gated channel subunit alpha1 F

ClinVar Annotator: match by term: X-linked severe congenital neutropenia

NCBI chr X:46,304,831...46,330,562

G

coiled-coil domain containing 120

ClinVar Annotator: match by term: X-linked severe congenital neutropenia

NCBI chr X:46,161,238...46,178,128
Ensembl chr X:46,170,651...46,177,244

G

coiled-coil domain containing 22

ClinVar Annotator: match by term: X-linked severe congenital neutropenia

NCBI chr X:46,330,215...46,349,978
Ensembl chr X:46,335,095...46,353,583

G

cyclin B3

ClinVar Annotator: match by term: X-linked severe congenital neutropenia

NCBI chr X:47,059,747...47,142,911
Ensembl chr X:47,085,605...47,142,788

G

cyclin dependent kinase 16

ClinVar Annotator: match by term: X-linked severe congenital neutropenia

PMID:8530058 PMID:9476131 PMID:10698340 PMID:10909851 PMID:12969986 More...

NCBI chr X:44,405,672...44,416,478
Ensembl chr X:44,410,598...44,416,818

G

chloride voltage-gated channel 5

ClinVar Annotator: match by term: X-linked severe congenital neutropenia

NCBI chr X:46,772,176...46,934,886
Ensembl chr X:46,772,305...46,927,861

G

diacylglycerol kinase kappa

ClinVar Annotator: match by term: X-linked severe congenital neutropenia

NCBI chr X:47,156,308...47,265,027
Ensembl chr X:47,156,317...47,264,824

G

EBP cholestenol delta-isomerase

ClinVar Annotator: match by term: X-linked severe congenital neutropenia

PMID:8530058 PMID:9476131 PMID:10698340 PMID:10909851 PMID:12969986 More...

NCBI chr X:45,652,398...45,660,551
Ensembl chr X:45,653,356...45,660,291

G

elastase, neutrophil expressed

ClinVar Annotator: match by term: X-linked severe congenital neutropenia

NCBI chr 6:599,392...604,925
Ensembl chr 6:601,217...604,725

G

ETS transcription factor ELK1

ClinVar Annotator: match by term: X-linked severe congenital neutropenia

PMID:8530058 PMID:9476131 PMID:10698340 PMID:10909851 PMID:12969986 More...

G

ES cell expressed Ras

ClinVar Annotator: match by term: X-linked severe congenital neutropenia

NCBI chr X:45,955,444...45,957,170
Ensembl chr X:45,955,803...45,956,504

G

forkhead box P3

ClinVar Annotator: match by term: X-linked severe congenital neutropenia

NCBI chr X:46,349,890...46,365,133

G

FtsJ RNA 2'-O-methyltransferase 1

ClinVar Annotator: match by term: X-linked severe congenital neutropenia

PMID:8530058 PMID:9476131 PMID:10698340 PMID:10909851 PMID:12969986 More...

NCBI chr X:45,606,922...45,617,172
Ensembl chr X:45,606,948...45,617,212

G

GATA binding protein 1

ClinVar Annotator: match by term: X-linked severe congenital neutropenia

NCBI chr X:45,912,638...45,920,415
Ensembl chr X:45,917,231...45,920,268

G

glyoxalase domain containing 5

ClinVar Annotator: match by term: X-linked severe congenital neutropenia

NCBI chr X:45,888,220...45,900,316
Ensembl chr X:45,888,509...45,900,095

G

G-patch domain and KOW motifs

ClinVar Annotator: match by term: X-linked severe congenital neutropenia

NCBI chr X:46,212,415...46,227,315
Ensembl chr X:46,209,373...46,227,250

G

GRIP1 associated protein 1

ClinVar Annotator: match by term: X-linked severe congenital neutropenia

NCBI chr X:46,093,225...46,120,097
Ensembl chr X:46,091,584...46,120,097

G

histone deacetylase 6

ClinVar Annotator: match by term: X-linked severe congenital neutropenia

NCBI chr X:45,927,625...45,951,636
Ensembl chr X:45,928,092...45,952,929

G

jade family PHD finger 3

ClinVar Annotator: match by term: X-linked severe congenital neutropenia

PMID:8530058 PMID:9476131 PMID:10698340 PMID:10909851 PMID:12969986 More...

NCBI chr X:44,119,480...44,266,268
Ensembl chr X:44,192,385...44,266,329

G

potassium voltage-gated channel subfamily D member 1

ClinVar Annotator: match by term: X-linked severe congenital neutropenia

NCBI chr X:46,080,116...46,092,125
Ensembl chr X:46,081,711...46,089,762

G

synapsin-1

ClinVar Annotator: match by term: X-linked severe congenital neutropenia

PMID:8530058 PMID:9476131 PMID:10698340 PMID:10909851 PMID:12969986 More...

NCBI chr X:44,748,994...44,797,053
Ensembl chr X:44,750,046...44,797,009

G

serine/threonine-protein kinase A-Raf

ClinVar Annotator: match by term: X-linked severe congenital neutropenia

PMID:8530058 PMID:9476131 PMID:10698340 PMID:10909851 PMID:12969986 More...

NCBI chr X:44,738,406...44,748,996
Ensembl chr X:44,740,181...44,748,550

G

properdin

ClinVar Annotator: match by term: X-linked severe congenital neutropenia

PMID:8530058 PMID:9476131 PMID:10698340 PMID:10909851 PMID:12969986 More...

NCBI chr X:44,801,388...44,807,177
Ensembl chr X:44,801,354...44,807,402

G

sperm acrosome-associated protein 5

ClinVar Annotator: match by term: X-linked severe congenital neutropenia

PMID:8530058 PMID:9476131 PMID:10698340 PMID:10909851 PMID:12969986 More...

NCBI chr X:45,170,226...45,175,615

G

MAGI family member, X-linked

ClinVar Annotator: match by term: X-linked severe congenital neutropenia

NCBI chr X:46,260,076...46,264,187
Ensembl chr X:46,260,137...46,263,687

G

NADH:ubiquinone oxidoreductase subunit B11

ClinVar Annotator: match by term: X-linked severe congenital neutropenia

PMID:8530058 PMID:9476131 PMID:10698340 PMID:10909851 PMID:12969986 More...

NCBI chr X:44,336,626...44,339,635
Ensembl chr X:44,336,285...44,340,109

G

OTU deubiquitinase 5

ClinVar Annotator: match by term: X-linked severe congenital neutropenia

NCBI chr X:46,041,348...46,077,195

G

PAGE family member 1

ClinVar Annotator: match by term: X-linked severe congenital neutropenia

NCBI chr X:46,521,148...46,527,310
Ensembl chr X:46,521,157...46,527,310

G

PAGE family member 4

ClinVar Annotator: match by term: X-linked severe congenital neutropenia

NCBI chr X:46,595,642...46,680,133
Ensembl chr X:46,676,607...46,678,837

G

proprotein convertase subtilisin/kexin type 1 inhibitor

ClinVar Annotator: match by term: X-linked severe congenital neutropenia

NCBI chr X:45,957,760...45,962,588
Ensembl chr X:45,957,715...45,962,601

G

Pim-2 proto-oncogene, serine/threonine kinase

ClinVar Annotator: match by term: X-linked severe congenital neutropenia

NCBI chr X:46,032,640...46,040,220

G

proteolipid protein 2

ClinVar Annotator: match by term: X-linked severe congenital neutropenia

NCBI chr X:46,267,194...46,270,538

G

porcupine O-acyltransferase

ClinVar Annotator: match by term: X-linked severe congenital neutropenia

PMID:8530058 PMID:9476131 PMID:10698340 PMID:10909851 PMID:12969986 More...

NCBI chr X:45,639,836...45,652,301
Ensembl chr X:45,640,125...45,651,974

G

protein phosphatase 1 regulatory subunit 3F

ClinVar Annotator: match by term: X-linked severe congenital neutropenia

NCBI chr X:46,369,087...46,387,335
Ensembl chr X:46,369,190...46,387,401

G

polyglutamine binding protein 1

ClinVar Annotator: match by term: X-linked severe congenital neutropenia

NCBI chr X:46,014,664...46,020,204
Ensembl chr X:46,015,250...46,023,988

G

PRA1 domain family member 2

ClinVar Annotator: match by term: X-linked severe congenital neutropenia

NCBI chr X:46,179,842...46,182,769
Ensembl chr X:46,179,835...46,183,552

G

prickle planar cell polarity protein 3

ClinVar Annotator: match by term: X-linked severe congenital neutropenia

NCBI chr X:46,271,001...46,286,440
Ensembl chr X:46,266,985...46,283,689

G

RNA binding motif protein 10

ClinVar Annotator: match by term: X-linked severe congenital neutropenia

PMID:8530058 PMID:9476131 PMID:10698340 PMID:10909851 PMID:12969986 More...

NCBI chr X:44,339,653...44,373,509
Ensembl chr X:44,339,877...44,373,339

G

RNA binding motif protein 3

ClinVar Annotator: match by term: X-linked severe congenital neutropenia

PMID:8530058 PMID:9476131 PMID:10698340 PMID:10909851 PMID:12969986 More...

NCBI chr X:45,702,974...45,707,064
Ensembl chr X:45,702,275...45,707,075

G

regucalcin

ClinVar Annotator: match by term: X-linked severe congenital neutropenia

PMID:8530058 PMID:9476131 PMID:10698340 PMID:10909851 PMID:12969986 More...

NCBI chr X:44,282,825...44,299,027
Ensembl chr X:44,285,601...44,299,258

G

RP2 activator of ARL3 GTPase

ClinVar Annotator: match by term: X-linked severe congenital neutropenia

PMID:8530058 PMID:9476131 PMID:10698340 PMID:10909851 PMID:12969986 More...

NCBI chr X:44,048,319...44,090,011
Ensembl chr X:44,048,317...44,089,988

G

shroom family member 4

ClinVar Annotator: match by term: X-linked severe congenital neutropenia

NCBI chr X:47,392,156...47,618,816
Ensembl chr X:47,397,570...47,616,973

G

solute carrier family 35 member A2

ClinVar Annotator: match by term: X-linked severe congenital neutropenia

NCBI chr X:46,020,241...46,030,205
Ensembl chr X:46,017,681...46,030,200

G

solute carrier family 38 member 5

ClinVar Annotator: match by term: X-linked severe congenital neutropenia

PMID:8530058 PMID:9476131 PMID:10698340 PMID:10909851 PMID:12969986 More...

NCBI chr X:45,588,992...45,598,771

G

solute carrier family 9 member A7

ClinVar Annotator: match by term: X-linked severe congenital neutropenia

PMID:8530058 PMID:9476131 PMID:10698340 PMID:10909851 PMID:12969986 More...

NCBI chr X:43,806,085...43,958,985
Ensembl chr X:43,806,349...43,958,959

G

SUV39H1 histone lysine methyltransferase

ClinVar Annotator: match by term: X-linked severe congenital neutropenia

NCBI chr X:45,820,114...45,834,727
Ensembl chr X:45,822,453...45,834,917

G

synaptophysin

ClinVar Annotator: match by term: X-linked severe congenital neutropenia

NCBI chr X:46,287,610...46,299,926
Ensembl chr X:46,287,282...46,299,773

G

TBC1 domain family member 25

ClinVar Annotator: match by term: X-linked severe congenital neutropenia

PMID:8530058 PMID:9476131 PMID:10698340 PMID:10909851 PMID:12969986 More...

NCBI chr X:45,671,217...45,691,307

G

transcription factor binding to IGHM enhancer 3

ClinVar Annotator: match by term: X-linked severe congenital neutropenia

NCBI chr X:46,141,377...46,155,445
Ensembl chr X:46,140,543...46,155,372

G

translocase of inner mitochondrial membrane 17B

ClinVar Annotator: match by term: X-linked severe congenital neutropenia

NCBI chr X:46,010,164...46,014,616
Ensembl chr X:46,010,446...46,014,510

G

TIMP metallopeptidase inhibitor 1

ClinVar Annotator: match by term: X-linked severe congenital neutropenia

PMID:8530058 PMID:9476131 PMID:10698340 PMID:10909851 PMID:12969986 More...

G

ubiquitin like modifier activating enzyme 1

ClinVar Annotator: match by term: X-linked severe congenital neutropenia

PMID:8530058 PMID:9476131 PMID:10698340 PMID:10909851 PMID:12969986 More...

NCBI chr X:44,377,765...44,402,378
Ensembl chr X:44,385,940...44,405,051

G

ubiquitin specific peptidase 11

ClinVar Annotator: match by term: X-linked severe congenital neutropenia

PMID:8530058 PMID:9476131 PMID:10698340 PMID:10909851 PMID:12969986 More...

NCBI chr X:44,420,305...44,438,564
Ensembl chr X:44,419,831...44,438,616

G

ubiquitin specific peptidase 27 X-linked

ClinVar Annotator: match by term: X-linked severe congenital neutropenia

NCBI chr X:46,718,329...46,728,205

G

ubiquitously expressed prefoldin like chaperone

ClinVar Annotator: match by term: X-linked severe congenital neutropenia

PMID:8530058 PMID:9476131 PMID:10698340 PMID:10909851 PMID:12969986 More...

NCBI chr X:44,828,836...44,836,433
Ensembl chr X:44,828,841...44,835,985

G

WASP actin nucleation promoting factor

ClinVar Annotator: match by term: X-linked severe congenital neutropenia

PMID:3284030 PMID:7579329 PMID:7579347 PMID:7753869 PMID:7795648 More...

NCBI chr X:45,809,418...45,817,165
Ensembl chr X:45,809,189...45,817,667

G

WD repeat domain 13

ClinVar Annotator: match by term: X-linked severe congenital neutropenia

PMID:8530058 PMID:9476131 PMID:10698340 PMID:10909851 PMID:12969986 More...

NCBI chr X:45,721,318...45,729,152
Ensembl chr X:45,721,406...45,733,103

G

WD repeat domain 45

ClinVar Annotator: match by term: X-linked severe congenital neutropenia

NCBI chr X:46,183,278...46,188,564
Ensembl chr X:46,183,443...46,188,536

G

zinc finger protein 157

ClinVar Annotator: match by term: X-linked severe congenital neutropenia

PMID:8530058 PMID:9476131 PMID:10698340 PMID:10909851 PMID:12969986 More...

NCBI chr X:44,541,118...44,590,740

G

zinc finger protein 182

ClinVar Annotator: match by term: X-linked severe congenital neutropenia

PMID:8530058 PMID:9476131 PMID:10698340 PMID:10909851 PMID:12969986 More...

NCBI chr X:45,138,483...45,185,295
Ensembl chr X:45,139,806...45,152,280

G

zinc finger protein 41

ClinVar Annotator: match by term: X-linked severe congenital neutropenia

PMID:8530058 PMID:9476131 PMID:10698340 PMID:10909851 PMID:12969986 More...

NCBI chr X:44,623,464...44,663,024

G

zinc finger protein 630

ClinVar Annotator: match by term: X-linked severe congenital neutropenia

PMID:8530058 PMID:9476131 PMID:10698340 PMID:10909851 PMID:12969986 More...

NCBI chr X:45,226,036...45,240,095
Ensembl chr X:45,226,339...45,229,653

G

zinc finger protein 81

ClinVar Annotator: match by term: X-linked severe congenital neutropenia

PMID:8530058 PMID:9476131 PMID:10698340 PMID:10909851 PMID:12969986 More...

NCBI chr X:45,001,296...45,089,891

XEROSIS AND GROWTH FAILURE WITH IMMUNE AND PULMONARY DYSFUNCTION SYNDROME

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

debranching RNA lariats 1

susceptibility

ClinVar Annotator: match by term: Xerosis and growth failure with immune and pulmonary dysfunction syndrome

PMID:25741868 PMID:37656279

NCBI chr15:52,367,197...52,381,076
Ensembl chr15:52,367,357...52,380,227

Term paths to the root

Path 1
Term	Annotations
disease	15342
disease of anatomical entity	15027
hematopoietic system disease	3329
leukocyte disease	1261
Abnormal Neutrophil Chemotactic Response	0
B-cell lymphoma +	327
Cd4+ Lymphocyte Deficiency	1
Eosinophilia +	53
IMMUNODEFICIENCY 108 WITH AUTOINFLAMMATION	1
Lazy Leukocyte Syndrome	1
Leukocyte Nuclear Appendages, Hereditary Prevalence of	0
Leukocytosis +	27
Monocyte Esterase Deficiency	1
Neurodevelopmental Disorder with Facial Dysmorphism, Absent Language, and Pseudo-Pelger-Huet Anomaly	1
Neutrophil Actin Dysfunction	0
Pelger-Huet anomaly +	2
Phagocytosis, Plasma-Related Defect in	0
Presentey Anomaly	1
Specific Granule Deficiency +	73
T-Cell OKT4 Deficiency	1
Undritz Anomaly	0
acidophil adenoma	0
aggressive NK-cell leukemia	0
basophil adenoma	0
basophilic adenocarcinoma	0
dendritic cell sarcoma +	1
hereditary neutrophilia	1
ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis	2
immunodeficiency 32B	4
immunodeficiency 7	0
infectious mononucleosis	5
leukocyte adhesion deficiency +	159
leukopenia +	519
leukostasis	4
mastocytosis +	9
phagocyte bactericidal dysfunction +	175
Path 2
Term	Annotations
disease	15342
disease of anatomical entity	15027
Hemic and Lymphatic Diseases	3807
hematopoietic system disease	3329
leukocyte disease	1261
Abnormal Neutrophil Chemotactic Response	0
B-cell lymphoma +	327
Cd4+ Lymphocyte Deficiency	1
Eosinophilia +	53
IMMUNODEFICIENCY 108 WITH AUTOINFLAMMATION	1
Lazy Leukocyte Syndrome	1
Leukocyte Nuclear Appendages, Hereditary Prevalence of	0
Leukocytosis +	27
Monocyte Esterase Deficiency	1
Neurodevelopmental Disorder with Facial Dysmorphism, Absent Language, and Pseudo-Pelger-Huet Anomaly	1
Neutrophil Actin Dysfunction	0
Pelger-Huet anomaly +	2
Phagocytosis, Plasma-Related Defect in	0
Presentey Anomaly	1
Specific Granule Deficiency +	73
T-Cell OKT4 Deficiency	1
Undritz Anomaly	0
acidophil adenoma	0
aggressive NK-cell leukemia	0
basophil adenoma	0
basophilic adenocarcinoma	0
dendritic cell sarcoma +	1
hereditary neutrophilia	1
ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis	2
immunodeficiency 32B	4
immunodeficiency 7	0
infectious mononucleosis	5
leukocyte adhesion deficiency +	159
leukopenia +	519
leukostasis	4
mastocytosis +	9
phagocyte bactericidal dysfunction +	175

paths to the root