Immunoproliferative Disorders - 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:	Immunoproliferative Disorders	go back to main search page
Accession:	DOID:9008463	browse the term
Definition:	Disorders characterized by abnormal proliferation of primary cells of the immune system or by excessive production of immunoglobulins.
Synonyms:	exact_synonym:	Immunoproliferative Disorder
	primary_id:	MESH:D007160

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Rat (1163) Mouse (1507) Human (19141) Chinchilla (1002) Bonobo (1097) Dog (1105) Squirrel (1021) Pig (1075) Green Monkey (1073) Naked Mole-rat (997) All
Genes (1122) Cell Lines (385)

acute biphenotypic leukemia

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

DOT1 like histone lysine methyltransferase

treatment

RGD

NCBI chr10:80,590,935...80,631,295
Ensembl chr10:80,591,040...80,631,295

G

ring finger protein 20

disease_progression

RGD

NCBI chr 4:49,632,005...49,656,887
Ensembl chr 4:49,632,006...49,656,887

acute leukemia

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

excision repair cross-complementing rodent repair deficiency, complementation group 2

ClinVar Annotator: match by term: Mixed Phenotype Acute Leukemia, T/Myeloid, Not Otherwise Specified

PMID:7585650 PMID:8571952 PMID:9195225 PMID:9238033 PMID:15982307 More...

NCBI chr 7:19,115,942...19,129,619
Ensembl chr 7:19,115,935...19,129,619

acute lymphoblastic leukemia

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ATP-binding cassette, sub-family B member 1A

susceptibility

DNA:snps, haplotype:multiple (human)
CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:22674224 PMID:22674224

NCBI chr 5:8,617,091...8,798,575
Ensembl chr 5:8,710,077...8,798,575

G

ATP-binding cassette, sub-family member 2

treatment

DNA:SNP:5'UTR:rs717620(human)
DNA:SNPs: :rs717620(human)

RGD

PMID:24404132 PMID:25007187

RGD:11080959, RGD:11080979

NCBI chr19:43,770,747...43,826,771
Ensembl chr19:43,770,631...43,829,179

G

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

disease_progression

mRNA:increased expression:mononuclear cell:

RGD

PMID:15521915 PMID:12100141

RGD:11081076, RGD:11081143

NCBI chr 6:58,561,476...58,669,436
Ensembl chr 6:58,561,508...58,672,661

G

c-abl oncogene 1, non-receptor tyrosine kinase

CTD Direct Evidence: marker/mechanism

PMID:11984797 PMID:21898527

NCBI chr 2:31,578,256...31,697,105
Ensembl chr 2:31,578,388...31,694,239

G

ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase

susceptibility

RGD

NCBI chr 2:26,732,508...26,754,973
Ensembl chr 2:26,732,515...26,754,991

G

activation-induced cytidine deaminase

treatment

RGD

NCBI chr 6:122,530,768...122,541,139
Ensembl chr 6:122,530,760...122,541,139

G

AT-rich interaction domain 5B

CTD Direct Evidence: marker/mechanism

PMID:19684603 PMID:19684604

NCBI chr10:67,928,353...68,114,596
Ensembl chr10:67,928,350...68,114,570

G

aryl hydrocarbon receptor nuclear translocator

CTD Direct Evidence: marker/mechanism

NCBI chr 3:95,341,674...95,404,551
Ensembl chr 3:95,341,699...95,404,551

G

BCL2-associated X protein

CTD Direct Evidence: marker/mechanism

NCBI chr 7:45,111,124...45,116,332
Ensembl chr 7:45,111,121...45,116,322

G

B cell leukemia/lymphoma 2

severity

mRNA:increased expression:bone marrow (human)

RGD

NCBI chr 1:106,465,906...106,642,020
Ensembl chr 1:106,465,908...106,642,004

G

BCL2-like 1

treatment

mRNA:increased expression:blood, mononuclear cell (human)

RGD

PMID:12469194 PMID:19020783

RGD:11353852, RGD:11353866

NCBI chr 2:152,600,652...152,673,632
Ensembl chr 2:152,622,588...152,673,648

G

BCR activator of RhoGEF and GTPase

CTD Direct Evidence: marker/mechanism

NCBI chr10:74,896,384...75,020,753
Ensembl chr10:74,896,424...75,020,753

G

caspase 8

CTD Direct Evidence: therapeutic

NCBI chr 1:58,834,553...58,886,663
Ensembl chr 1:58,834,533...58,886,662

G

calpastatin

protein:increased expresssion:B cell

RGD

NCBI chr13:74,840,485...74,956,993
Ensembl chr13:74,840,487...74,956,929

G

cyclin D1

mRNA:increased expression:bone marrow (human)

RGD

NCBI chr 7:144,483,668...144,493,568
Ensembl chr 7:144,483,668...144,493,662

G

CD40 ligand

RGD

NCBI chr X:56,257,448...56,269,402
Ensembl chr X:56,257,503...56,269,402

G

CD46 antigen, complement regulatory protein

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

RGD

NCBI chr 1:194,721,279...194,781,149
Ensembl chr 1:194,719,134...194,774,557

G

CD79B antigen

protein:decreased expression:bone marrow, mononuclear cell (human)

RGD

NCBI chr11:106,202,167...106,205,388
Ensembl chr11:106,202,167...106,205,588

G

CD86 antigen

severity

protein:increased expression:peripheral blood, bone marrow, mononuclear cell (human)

RGD

NCBI chr16:36,389,318...36,486,439
Ensembl chr16:36,424,231...36,486,443

G

cyclin dependent kinase 6

CTD Direct Evidence: marker/mechanism

NCBI chr 5:3,391,004...3,581,008
Ensembl chr 5:3,391,485...3,581,008

G

cyclin dependent kinase inhibitor 2A

disease_progression
no_association
susceptibility

DNA:deletion: :
DNA:missense mutations:cds:
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Acute lymphocytic leukemia | ClinVar Annotator: match by term: Acute lymphoid leukemia

CTD
ClinVar
RGD

PMID:7566978 PMID:7647780 PMID:7718873 PMID:7987387 PMID:8573142 More...

RGD:11251764, RGD:11252081, RGD:11252082, RGD:11057958

NCBI chr 4:89,192,710...89,212,856
Ensembl chr 4:89,192,708...89,212,890

G

cyclin dependent kinase inhibitor 2B

ClinVar Annotator: match by term: Acute lymphoid leukemia

NCBI chr 4:89,224,526...89,229,269
Ensembl chr 4:89,224,536...89,229,276

G

CCAAT/enhancer binding protein epsilon

CTD Direct Evidence: marker/mechanism

NCBI chr14:54,947,823...54,949,604
Ensembl chr14:54,947,817...54,949,631

G

complement factor B

DNA:missense mutation:p.R32Q b(human)

RGD

NCBI chr17:35,075,350...35,081,492
Ensembl chr17:35,075,350...35,081,494

G

CREB binding protein

disease_progression

DNA:mutations:multiple

RGD

NCBI chr16:3,899,198...4,031,864
Ensembl chr16:3,899,192...4,031,861

G

cytokine receptor-like factor 2

CTD Direct Evidence: marker/mechanism

NCBI chr 5:109,702,575...109,707,301
Ensembl chr 5:109,702,575...109,706,859

G

colony stimulating factor 3 (granulocyte)

treatment

RGD

NCBI chr11:98,591,287...98,594,457
Ensembl chr11:98,592,089...98,594,455

G

chondroitin sulfate proteoglycan 4

severity

RGD

NCBI chr 9:56,772,388...56,807,154
Ensembl chr 9:56,772,317...56,807,154

G

cytochrome b-245, alpha polypeptide

mRNA:increased expression:peripheral blood mononuclear cell:

RGD

NCBI chr 8:123,151,510...123,159,679
Ensembl chr 8:123,151,515...123,159,669

G

cytochrome P450, family 1, subfamily a, polypeptide 1

susceptibility
no_association

DNA:polymorphism:3"UTR:rs4646903(human)
DNA:polymorphism:cds:2452C>A(p.T461N)(human)
DNA:polymorphism:3'UTR:3801T>C(human)

RGD

PMID:22964275 PMID:23725389 PMID:16676594

RGD:11352714, RGD:11352725, RGD:11352728

NCBI chr 9:57,595,211...57,611,107
Ensembl chr 9:57,595,211...57,611,107

G

cytochrome P450, family 1, subfamily a, polypeptide 2

CTD Direct Evidence: marker/mechanism

NCBI chr 9:57,584,220...57,590,938
Ensembl chr 9:57,584,220...57,590,986

G

cytochrome P450, family 1, subfamily b, polypeptide 1

CTD Direct Evidence: marker/mechanism

NCBI chr17:80,014,369...80,022,490
Ensembl chr17:80,008,966...80,022,490

G

cytochrome P450, family 2, subfamily c, polypeptide 29

CTD Direct Evidence: marker/mechanism

NCBI chr19:39,275,541...39,319,157
Ensembl chr19:39,257,849...39,319,157

G

cytochrome P450, family 2, subfamily d, polypeptide 22

susceptibility

DNA:polymorphisms: :
DNA:SNP,deletion:splice junction,exon:1934G>A(human)

RGD

PMID:11037802 PMID:19593802

RGD:11352820, RGD:11252111

NCBI chr15:82,254,728...82,264,461
Ensembl chr15:82,254,728...82,264,461

G

cytochrome P450, family 2, subfamily e, polypeptide 1

CTD Direct Evidence: marker/mechanism

NCBI chr 7:140,343,732...140,354,903
Ensembl chr 7:140,343,652...140,354,900

G

cytochrome P450, family 3, subfamily a, polypeptide 13

disease_progression
susceptibility

DNA:polymorphism: :

RGD

PMID:19650988 PMID:22215203

RGD:11353796, RGD:11353805

NCBI chr 5:137,891,195...137,923,872
Ensembl chr 5:137,891,194...137,919,881

G

dihydrofolate reductase

disease_progression

DNA:polymorphisms, haplotype:promoter:
DNA:polymorphisms: :-317A>G, 829C>T (human)

RGD

PMID:19861437 PMID:9226157 PMID:22969948 PMID:12972803

RGD:11039542, RGD:11039543, RGD:11039544, RGD:11039545

NCBI chr13:92,491,291...92,525,561
Ensembl chr13:92,491,234...92,525,561

G

DNA methyltransferase 3A

treatment

DNA:mutations:exon, intron:p.R882(human)

RGD

NCBI chr12:3,851,559...3,964,442
Ensembl chr12:3,856,007...3,964,443

G

deoxynucleotidyltransferase, terminal

protein:increased activity:peripheral blood,bone marrow:

RGD

NCBI chr19:41,017,701...41,047,964
Ensembl chr19:41,017,714...41,047,964

G

dihydropyrimidine dehydrogenase

no_association
disease_progression

DNA:SNP: :85T>C (human)
DNA:SNPs: :2194G>A, 1156G>T (human)
DNA:splice-site mutation:intron:IVS14+1G>A (human)

RGD

PMID:26846104 PMID:26846104 PMID:26846104

RGD:11098453, RGD:11098453, RGD:11098453

NCBI chr 3:118,355,758...119,226,573
Ensembl chr 3:118,355,778...119,226,573

G

double homeobox B-like 1

CTD Direct Evidence: marker/mechanism

NCBI chr14:25,979,011...25,990,590
Ensembl chr14:25,979,001...25,990,512

G

euchromatic histone methyltransferase 1

CTD Direct Evidence: marker/mechanism

NCBI chr 2:24,680,781...24,809,658
Ensembl chr 2:24,679,940...24,809,626

G

euchromatic histone lysine N-methyltransferase 2

CTD Direct Evidence: marker/mechanism

NCBI chr17:35,117,427...35,133,049
Ensembl chr17:35,117,445...35,133,028

G

endoglin

disease_progression

RGD

NCBI chr 2:32,536,607...32,572,681
Ensembl chr 2:32,536,607...32,572,681

G

epoxide hydrolase 1, microsomal

susceptibility
no_association

DNA:missense mutation, haplotype:exon:p.Y113H (human)
DNA:missense mutation, haplotype:exon:p.H139R (human)
DNA:polymorphisms:exon
DNA:SNPs:exon:rs1051740, rs2234922 (human)
CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:21983886 PMID:21983886 PMID:21983886 PMID:19593802 PMID:22930568 More...

RGD:11252110, RGD:11252110, RGD:11252111, RGD:11252113, RGD:11252114

NCBI chr 1:180,817,121...180,845,134
Ensembl chr 1:180,803,775...180,848,469

G

excision repair cross-complementing rodent repair deficiency, complementation group 1

susceptibility

DNA:SNPs: :8092C>A, 19007G>A (human)
DNA:SNPs, haplotypes: :p.R194W, p.R280H, p.R399Q (human)

RGD

PMID:16723154 PMID:16435384

RGD:11252160, RGD:11340204

NCBI chr 7:19,079,016...19,090,449
Ensembl chr 7:19,078,703...19,090,449

G

excision repair cross-complementing rodent repair deficiency, complementation group 2

no_association

DNA:missense mutations: :p.D312N, p.K751Q (human)
DNA:haplotype

RGD

PMID:19101034 PMID:21987080

RGD:11252192, RGD:11340201

NCBI chr 7:19,115,942...19,129,619
Ensembl chr 7:19,115,935...19,129,619

G

ETS transcription factor

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Acute lymphoid leukemia

PMID:27776115 PMID:27993330

NCBI chr16:95,160,028...95,387,452
Ensembl chr16:95,160,028...95,387,452

G

ets variant 6

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Acute lymphoid leukemia

PMID:17255265 PMID:26102509

NCBI chr 6:134,012,663...134,247,121
Ensembl chr 6:134,012,663...134,247,121

G

enhancer of zeste 2 polycomb repressive complex 2 subunit

OMIM:247640 | OMIM:613065 | OMIM:613067 | OMIM:615545

NCBI chr 6:47,507,208...47,613,843
Ensembl chr 6:47,507,073...47,572,275

G

coagulation factor III

RGD

NCBI chr 3:121,517,186...121,528,701
Ensembl chr 3:121,517,186...121,528,697

G

Fas cell surface death receptor

disease_progression

protein:increased expression:CD34+ bone marrow cell

RGD

PMID:10500800 PMID:9711907

RGD:11049148, RGD:11049157

NCBI chr19:34,267,926...34,305,175
Ensembl chr19:34,268,066...34,305,172

G

fibrinogen alpha chain

protein:increased expression:serum (human)

RGD

NCBI chr 3:82,933,460...82,940,934
Ensembl chr 3:82,933,383...82,940,934

G

FMS-like tyrosine kinase 3

ClinVar Annotator: match by term: Acute lymphoid leukemia
CTD Direct Evidence: marker/mechanism

ClinVar
CTD
OMIM

PMID:11290608 PMID:11442493 PMID:14604974 PMID:14670924 PMID:15256420 More...

NCBI chr 5:147,267,551...147,337,299
Ensembl chr 5:147,267,551...147,337,299

G

folylpolyglutamyl synthetase

CTD Direct Evidence: marker/mechanism

NCBI chr 2:32,572,621...32,594,163
Ensembl chr 2:32,572,621...32,594,157

G

GATA binding protein 3

CTD Direct Evidence: marker/mechanism

NCBI chr 2:9,861,889...9,894,845
Ensembl chr 2:9,861,889...9,894,845

G

growth factor independent 1B

mRNA:increased expression:blood:

RGD

NCBI chr 2:28,499,462...28,511,994
Ensembl chr 2:28,499,462...28,511,994

G

growth hormone

treatment

RGD

NCBI chr11:106,191,087...106,194,529
Ensembl chr11:106,191,097...106,192,691

G

guanine nucleotide binding protein (G protein), beta 1

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Acute lymphoblastic leukemia | ClinVar Annotator: match by term: Acute lymphoid leukemia | ClinVar Annotator: match by term: Lymphoblastic leukemia

OMIM
CTD
ClinVar

PMID:25485910 PMID:25741868 PMID:27108799 PMID:28492532 PMID:32134617 More...

NCBI chr 4:155,575,514...155,643,726
Ensembl chr 4:155,575,818...155,643,726

G

glucose-6-phosphate isomerase 1

RGD

NCBI chr 7:33,900,752...33,929,761
Ensembl chr 7:33,900,755...33,929,761

G

glutathione peroxidase 1

treatment

RGD

PMID:17317918 PMID:24698347

RGD:11352774, RGD:11352812

NCBI chr 9:108,216,279...108,217,541
Ensembl chr 9:108,216,102...108,217,542

G

glutathione reductase

RGD

NCBI chr 8:34,143,266...34,188,190
Ensembl chr 8:34,142,551...34,188,191

G

glutathione S-transferase, mu 1

disease_progression
susceptibility
no_association

RGD

PMID:10666194 PMID:15738600 PMID:12827651 PMID:14607752

RGD:10450829, RGD:10755321, RGD:10755409, RGD:10755410

NCBI chr 3:107,919,566...107,925,289
Ensembl chr 3:107,919,571...107,925,289

G

glutathione S-transferase, pi 1

disease_progression
no_association
susceptibility

DNA:haplotype:cds:
DNA:polymorphism: :1578 a>G(human)
DNA:transition mutation:exon:

RGD

PMID:10666194 PMID:23979883 PMID:15738600

RGD:10450829, RGD:10755417, RGD:10755321

NCBI chr19:4,085,411...4,087,912
Ensembl chr19:4,085,407...4,087,985

G

glutathione S-transferase, theta 1

disease_progression
susceptibility

RGD

PMID:10666194 PMID:14607752

RGD:10450829, RGD:10755410

NCBI chr10:75,619,647...75,634,418
Ensembl chr10:75,619,647...75,634,418

G

H1.2 linker histone, cluster member

susceptibility

DNA:SNP, haplotype:enhancer: (rs807212) (human)

RGD

NCBI chr13:23,922,790...23,923,514
Ensembl chr13:23,922,791...23,924,350

G

histocompatibility 2, class II antigen A, alpha

DNA:polymorphisms, haplotype:cds:HLA-DQA1*01 (human)

RGD

NCBI chr17:34,501,718...34,506,797
Ensembl chr17:34,501,718...34,506,797

G

histocompatibility 2, class II antigen A, beta 1

DNA:polymorphisms, haplotypes:cds:multiple
DNA:polymorphisms, haplotype:cds:HLA-DQB1*0501 (human)

RGD

PMID:22434102 PMID:9744491

RGD:11041749, RGD:11041762

NCBI chr17:34,482,201...34,488,392
Ensembl chr17:34,476,663...34,488,393

G

hemopoietic cell kinase

CTD Direct Evidence: marker/mechanism

NCBI chr 2:152,950,388...152,993,361
Ensembl chr 2:152,950,388...152,993,361

G

histone deacetylase 1

disease_progression

mRNA:increased expression:bone marrow,blood:

RGD

NCBI chr 4:129,409,897...129,436,516
Ensembl chr 4:129,409,897...129,436,506

G

histone deacetylase 2

disease_progression

mRNA:increased expression:bone marrow,blood:

RGD

NCBI chr10:36,850,293...36,877,885
Ensembl chr10:36,850,540...36,877,885

G

histone deacetylase 4

treatment

RGD

NCBI chr 1:91,856,501...92,123,424
Ensembl chr 1:91,856,501...92,123,421

G

homeostatic iron regulator

no_association

DNA:missense mutation:cds:p.H63D (human)
DNA:missense mutation:cds:p.C282Y (human)
DNA:missense mutation: :p.H63D (human)

RGD

PMID:10627122 PMID:10627122 PMID:17107905

RGD:10755557, RGD:10755557, RGD:10755558

NCBI chr13:23,886,017...23,894,837
Ensembl chr13:23,886,017...23,894,837

G

hexokinase 1

protein:decreased activity:platelet

RGD

NCBI chr10:62,104,634...62,215,699
Ensembl chr10:62,104,634...62,215,687

G

hepatic leukemia factor

CTD Direct Evidence: marker/mechanism

NCBI chr11:90,227,361...90,281,745
Ensembl chr11:90,227,362...90,281,721

G

homeobox D4

ClinVar Annotator: match by term: Leukemia, acute lymphoblastic, susceptibility to
CTD Direct Evidence: marker/mechanism

NCBI chr 2:74,552,322...74,559,504
Ensembl chr 2:74,542,273...74,559,504

G

isocitrate dehydrogenase 1 (NADP+), soluble

CTD Direct Evidence: marker/mechanism

NCBI chr 1:65,197,775...65,225,638
Ensembl chr 1:65,197,775...65,225,659

G

interferon gamma

susceptibility

DNA:SNP: :rs2069727(human)

RGD

NCBI chr10:118,276,951...118,281,799
Ensembl chr10:118,276,951...118,281,797

G

IKAROS family zinc finger 1

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Acute lymphocytic leukemia | ClinVar Annotator: match by term: Acute lymphoid leukemia | ClinVar Annotator: match by term: Leukemia, acute lymphocytic, susceptibility to, 2
DNA:SNPs: (human)

CTD
ClinVar
RGD

PMID:19684604 PMID:25741868 PMID:27993330 PMID:28492532 PMID:24786325

NCBI chr11:11,634,970...11,722,930
Ensembl chr11:11,634,980...11,722,926

G

IKAROS family zinc finger 2

CTD Direct Evidence: marker/mechanism

NCBI chr 1:69,570,382...69,726,510
Ensembl chr 1:69,570,373...69,726,404

G

IKAROS family zinc finger 3

CTD Direct Evidence: marker/mechanism

NCBI chr11:98,355,436...98,437,157
Ensembl chr11:98,355,728...98,436,857

G

interleukin 10

treatment

protein:decreased expression:blood

RGD

PMID:21653647 PMID:15860861

RGD:11049158, RGD:11049169

NCBI chr 1:130,947,459...130,952,707
Ensembl chr 1:130,947,582...130,952,711

G

interferon regulatory factor 4

DNA:SNP:intron:rs12203592 (human)

RGD

NCBI chr13:30,933,191...30,950,965
Ensembl chr13:30,933,209...30,950,959

G

inosine triphosphatase (nucleoside triphosphate pyrophosphatase)

treatment
no_association

DNA:SNPs:exon:94C>A, 138G>A (human)
DNA:SNP:intron

RGD

PMID:22009189 PMID:22009189

RGD:10766474, RGD:10766474

NCBI chr 2:130,506,702...130,523,534
Ensembl chr 2:130,509,530...130,523,534

G

lysine (K)-specific demethylase 2B

mRNA:increased expression:bone marrow (human)

RGD

NCBI chr 5:123,008,727...123,127,333
Ensembl chr 5:123,008,728...123,127,886

G

KDM3B lysine (K)-specific demethylase 3B

protein:increased expression:bone marrow, mononuclear cell (human)

RGD

NCBI chr18:34,910,061...34,972,423
Ensembl chr18:34,910,100...34,971,713

G

lysine (K)-specific demethylase 6A

severity

DNA:mutations:cds:multiple (human)

RGD

NCBI chr X:18,027,101...18,147,061
Ensembl chr X:18,028,814...18,146,175

G

lysine (K)-specific methyltransferase 2A

OMIM:247640 | OMIM:613065 | OMIM:613067 | OMIM:615545
CTD Direct Evidence: marker/mechanism

PMID:24736461 PMID:25730765

NCBI chr 9:44,714,652...44,793,492
Ensembl chr 9:44,714,652...44,792,594

G

Kirsten rat sarcoma viral oncogene homolog

disease_progression

RGD

PMID:17910045 PMID:25917266

RGD:11060148, RGD:11060149

NCBI chr 6:145,162,425...145,197,631
Ensembl chr 6:145,162,425...145,195,965

G

LIM domain only 2

OMIM:247640 | OMIM:613065

NCBI chr 2:103,788,309...103,812,223
Ensembl chr 2:103,788,331...103,812,223

G

Mediterranean fever

susceptibility

DNA:polymorphisms:cds:p.E148Q,M680I(human)

RGD

NCBI chr16:3,524,838...3,536,073
Ensembl chr16:3,525,082...3,535,961

G

methylenetetrahydrofolate reductase

disease_progression
treatment

DNA:missense mutation:cds:677C>T (p.A222V) (rs1801133) (human)
CTD Direct Evidence: marker/mechanism
DNA:missense mutation:cds:677C>T (human)

CTD
RGD

PMID:16706930 PMID:19923983 PMID:21644011

RGD:10449398, RGD:10449407

NCBI chr 4:148,123,534...148,144,019
Ensembl chr 4:148,123,534...148,144,008

G

5-methyltetrahydrofolate-homocysteine methyltransferase

disease_progression
susceptibility
no_association

DNA:SNP::rs10925235(human)
DNA:polymorphism: :66A>G(human)
DNA:polymorphism: :2756A>G(human)

RGD

PMID:26605150 PMID:21618417 PMID:15159311 PMID:22453148

RGD:11531136, RGD:11531141, RGD:11531140, RGD:11531137

NCBI chr13:12,196,217...12,273,090
Ensembl chr13:12,197,598...12,272,999

G

5-methyltetrahydrofolate-homocysteine methyltransferase reductase

susceptibility

DNA:haplotype:cds:
CTD Direct Evidence: marker/mechanism
DNA:SNP: :rs3776455(human)

CTD
RGD

PMID:17136115 PMID:17136115 PMID:23940529

RGD:11531133, RGD:11531135

NCBI chr13:68,708,897...68,730,273
Ensembl chr13:68,708,899...68,730,268

G

myelocytomatosis oncogene

disease_progression

RGD

NCBI chr15:61,857,190...61,862,210
Ensembl chr15:61,857,240...61,862,223

G

N-acetyltransferase 2 (arylamine N-acetyltransferase)

susceptibility
no_association

DNA:polymorphisms: :
DNA:polymorphisms,haplotype: :
CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:22200898 PMID:25804798 PMID:21888617 PMID:22215203

RGD:11532767, RGD:11532769, RGD:11353805

NCBI chr 8:67,947,527...67,955,296
Ensembl chr 8:67,947,510...67,955,236

G

nibrin

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Acute lymphoblastic leukemia | ClinVar Annotator: match by term: Acute lymphocytic leukemia | ClinVar Annotator: match by term: Acute lymphoid leukemia | ClinVar Annotator: match by term: Lymphoblastic leukemia

OMIM
CTD
ClinVar

PMID:9590180 PMID:11325820 PMID:12353271 PMID:14559852 PMID:15338273 More...

NCBI chr 4:15,955,388...15,992,589
Ensembl chr 4:15,957,925...15,992,589

G

nitric oxide synthase 3, endothelial cell

susceptibility
disease_progression

DNA:SNP: :rs3918186(human)
DNA:polymorphism, haplotype:cds,intron:P.E298D,-786T>C(human)

RGD

PMID:23922896 PMID:20510681

RGD:11533639, RGD:11533646

NCBI chr 5:24,569,772...24,589,472
Ensembl chr 5:24,569,808...24,589,472

G

notch 3

OMIM:247640 | OMIM:613065

NCBI chr17:32,339,794...32,385,869
Ensembl chr17:32,339,794...32,385,826

G

NAD(P)H dehydrogenase, quinone 1

DNA:mutation: :609C>T (human)
DNA:missense mutations: :p.R139W (465C>T), p.P187S (609C>T) (human)
CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:11774269 PMID:17332311 PMID:18444911 PMID:11774269

RGD:10769347, RGD:10769359

NCBI chr 8:108,114,856...108,139,012
Ensembl chr 8:108,114,857...108,129,838

G

neuroblastoma ras oncogene

disease_progression

DNA:missense mutation:cds:

RGD

NCBI chr 3:102,965,643...102,975,230
Ensembl chr 3:102,965,601...102,975,230

G

nuclear receptor binding SET domain protein 2

CTD Direct Evidence: therapeutic

NCBI chr 5:33,974,286...34,055,310
Ensembl chr 5:33,978,069...34,055,319

G

5'-nucleotidase, cytosolic II

CTD Direct Evidence: marker/mechanism

NCBI chr19:46,873,829...47,003,613
Ensembl chr19:46,871,756...47,003,592

G

nucleoporin 214

CTD Direct Evidence: marker/mechanism

NCBI chr 2:31,864,446...31,943,204
Ensembl chr 2:31,864,448...31,943,987

G

phosphoprotein associated with glycosphingolipid microdomains 1

CTD Direct Evidence: marker/mechanism

NCBI chr 3:9,752,539...9,898,744
Ensembl chr 3:9,752,539...9,898,739

G

paired box 5

susceptibility

ClinVar Annotator: match by term: Acute lymphoid leukemia | ClinVar Annotator: match by term: Leukemia, acute lymphoblastic, susceptibility to, 3
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
CTD

PMID:24013638 PMID:24728327 PMID:25741868 PMID:26214592 PMID:27993330 More...

NCBI chr 4:44,524,748...44,710,694
Ensembl chr 4:44,524,757...44,710,487

G

paraoxonase 1

susceptibility

DNA:missense mutations:cds:p.L55M (rs854560), p.Q192R (rs662) (human)

RGD

NCBI chr 6:5,168,101...5,193,824
Ensembl chr 6:5,168,090...5,193,946

G

PRAME like, X-linked 1

severity

mRNA:increased expression:blood (human)

RGD

NCBI chr X:134,513,662...134,528,437
Ensembl chr X:134,513,751...134,528,454

G

PR domain containing 14

CTD Direct Evidence: marker/mechanism

NCBI chr 1:13,183,649...13,197,467
Ensembl chr 1:13,183,681...13,197,387

G

phosphatase and tensin homolog

OMIM:247640 | OMIM:613065 | OMIM:613067 | OMIM:615545

NCBI chr19:32,734,977...32,803,560
Ensembl chr19:32,734,897...32,803,560

G

RB transcriptional corepressor 1

CTD Direct Evidence: marker/mechanism

NCBI chr14:73,430,298...73,563,446
Ensembl chr14:73,421,113...73,563,262

G

runt related transcription factor 1

CTD Direct Evidence: marker/mechanism

NCBI chr16:92,398,354...92,622,962
Ensembl chr16:92,398,354...92,623,037

G

solute carrier family 19 (folate transporter), member 1

CTD Direct Evidence: marker/mechanism

NCBI chr10:76,868,103...76,886,266
Ensembl chr10:76,868,075...76,896,836

G

small nuclear ribonucleoprotein E

severity

mRNA:decreased expression:bone marrow, blood, mononuclear cell (human)

RGD

NCBI chr 1:133,531,609...133,538,018
Ensembl chr 1:133,531,609...133,538,029

G

T cell acute lymphocytic leukemia 1

CTD Direct Evidence: marker/mechanism

NCBI chr 4:114,913,623...114,928,952
Ensembl chr 4:114,913,623...114,928,952

G

T cell acute lymphocytic leukemia 2

CTD Direct Evidence: marker/mechanism

NCBI chr 4:53,779,701...53,788,712
Ensembl chr 4:53,779,705...53,788,712

G

taste receptor, type 2, member 103

CTD Direct Evidence: marker/mechanism

NCBI chr 6:133,013,126...133,014,064
Ensembl chr 6:133,013,126...133,014,064

G

transcription factor 3

CTD Direct Evidence: marker/mechanism

NCBI chr10:80,245,375...80,269,814
Ensembl chr10:80,245,348...80,269,481

G

transcobalamin 2

protein:altered activity:plasma:

RGD

NCBI chr11:3,867,077...3,882,078
Ensembl chr11:3,867,192...3,882,159

G

telomerase reverse transcriptase

DNA:SNPs:promoter, introns:g.1296486C>T, g.12866516A>C, g.1279790G>A (rs2735940, rs2736100, rs10069690) (human)

RGD

PMID:23066086 PMID:15621763

RGD:11038654, RGD:11038667

NCBI chr13:73,775,030...73,797,962
Ensembl chr13:73,775,030...73,797,962

G

transmembrane 9 superfamily member 2

mRNA:increased expression:bone marrow, mononuclear cells (human)

RGD

NCBI chr14:122,342,290...122,397,015
Ensembl chr14:122,344,450...122,397,016

G

thiopurine methyltransferase

treatment
no_association

DNA:SNPs:multiple
DNA:SNPs:introns:12356C>T, 16638C>T, 26354G>T (rs4449636, rs2518463, rs2842949) (human)
DNA:SNPs:exon:374C>T, 719A>G (rs2842934, rs1142345) (human)
DNA:SNPs: :multiple

RGD

PMID:17164697 PMID:22009189 PMID:22009189 PMID:24499706

RGD:11038720, RGD:10766474, RGD:10766474, RGD:11038723

NCBI chr13:47,175,463...47,196,833
Ensembl chr13:47,175,958...47,198,213

G

transformation related protein 53

CTD Direct Evidence: marker/mechanism

NCBI chr11:69,471,174...69,482,699
Ensembl chr11:69,471,185...69,482,699

G

tetratricopeptide repeat domain 12

DNA:hypermethylation:5'end:CpG dinucleotide

RGD

NCBI chr 9:49,348,261...49,397,572
Ensembl chr 9:49,348,263...49,397,525

G

thymidylate synthase

treatment

DNA:repeats: : rs347430033(human)

RGD

NCBI chr 5:30,243,544...30,279,261
Ensembl chr 5:30,263,200...30,278,615

G

V-set pre-B cell surrogate light chain 1A

CTD Direct Evidence: marker/mechanism

NCBI chr16:16,686,265...16,687,119
Ensembl chr16:16,686,267...16,688,707

G

X-ray repair complementing defective repair in Chinese hamster cells 1

susceptibility
no_association

DNA:missense mutation, haplotype: :p.R399Q (human)
DNA:missense mutation: :p.R194W (human)
DNA:missense mutation: :p.R399Q (human)
CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:21983886 PMID:21983886 PMID:19101034 PMID:19101034

RGD:11252110, RGD:11252192, RGD:11252192

NCBI chr 7:24,246,124...24,272,863
Ensembl chr 7:24,245,714...24,272,865

Acute Lymphoblastic Leukemia, with Lymphomatous Features

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

c-abl oncogene 1, non-receptor tyrosine kinase

ClinVar Annotator: match by term: Lymphoblastic leukemia, acute, with lymphomatous features

PMID:10988075 PMID:11423618 PMID:11853795 PMID:11861307 PMID:11964322 More...

NCBI chr 2:31,578,256...31,697,105
Ensembl chr 2:31,578,388...31,694,239

G

cytokine receptor-like factor 2

ClinVar Annotator: match by term: Lymphoblastic leukemia, acute, with lymphomatous features

PMID:19907440 PMID:19965641 PMID:20018760 PMID:22368272

NCBI chr 5:109,702,575...109,707,301
Ensembl chr 5:109,702,575...109,706,859

G

cytochrome P450, family 2, subfamily b, polypeptide 10

susceptibility

DNA:polymorphism:G15631T

NCBI chr 7:25,597,083...25,626,049
Ensembl chr 7:25,597,045...25,626,049

G

fibroblast growth factor receptor 1

ClinVar Annotator: match by term: Lymphoblastic leukemia, acute, with lymphomatous features

PMID:25705862 PMID:26619011 PMID:26942290 PMID:33448156

NCBI chr 8:26,008,808...26,067,819
Ensembl chr 8:26,003,670...26,065,734

G

interleukin 7 receptor

ClinVar Annotator: match by term: Lymphoblastic leukemia, acute, with lymphomatous features

PMID:22897847 PMID:22955920

NCBI chr15:9,505,880...9,530,270
Ensembl chr15:9,505,874...9,530,262

G

insulin-like 6

ClinVar Annotator: match by term: Lymphoblastic leukemia, acute, with lymphomatous features

PMID:18805579 PMID:19470474 PMID:20585391 PMID:22368270 PMID:22955920

NCBI chr19:29,298,754...29,302,718
Ensembl chr19:29,298,744...29,302,756

G

Janus kinase 1

ClinVar Annotator: match by term: Lymphoblastic leukemia, acute, with lymphomatous features

PMID:16239216 PMID:19139102 PMID:19470474 PMID:19838194 PMID:20167706 More...

NCBI chr 4:101,009,171...101,122,493
Ensembl chr 4:101,009,564...101,122,479

G

Janus kinase 2

ClinVar Annotator: match by term: Lymphoblastic leukemia, acute, with lymphomatous features

PMID:18805579 PMID:19470474 PMID:20585391 PMID:22368270 PMID:22955920

NCBI chr19:29,229,006...29,290,495
Ensembl chr19:29,229,228...29,290,480

G

Janus kinase 3

ClinVar Annotator: match by term: LYMPHOMATOUS ALL

PMID:10982185 PMID:16843266 PMID:18270328 PMID:20132407 PMID:20372971 More...

NCBI chr 8:72,129,027...72,143,221
Ensembl chr 8:72,128,940...72,143,219

adenosine deaminase deficiency

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

acyl-CoA thioesterase 8

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

PMID:26255240 PMID:26376800 PMID:28492532

NCBI chr 2:164,634,688...164,662,132
Ensembl chr 2:164,634,685...164,646,802

G

adenosine deaminase

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

OMIM
ClinVar
CTD
MouseDO

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

NCBI chr 2:163,565,703...163,592,154
Ensembl chr 2:163,568,504...163,592,159

G

cellular communication network factor 5

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

PMID:26255240 PMID:26376800 PMID:28492532

NCBI chr 2:163,662,724...163,675,066
Ensembl chr 2:163,662,781...163,675,066

G

CD247 antigen

ClinVar Annotator: match by term: Bubble boy disease

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

NCBI chr 1:165,607,514...165,698,722
Ensembl chr 1:165,616,250...165,704,846

G

CD3 antigen, gamma polypeptide

ClinVar Annotator: match by term: Bubble boy disease

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

NCBI chr 9:44,880,870...44,891,729
Ensembl chr 9:44,880,870...44,891,729

G

CD40 antigen

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

PMID:26255240 PMID:26376800 PMID:28492532

NCBI chr 2:164,897,535...164,913,574
Ensembl chr 2:164,897,547...164,914,868

G

cadherin 22

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

PMID:26255240 PMID:26376800 PMID:28492532

NCBI chr 2:164,953,421...165,076,892
Ensembl chr 2:164,953,427...165,076,773

G

cathepsin A

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

PMID:26255240 PMID:26376800 PMID:28492532

NCBI chr 2:164,674,792...164,682,952
Ensembl chr 2:164,674,793...164,682,952

G

dysbindin domain containing 2

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

PMID:26255240 PMID:26376800 PMID:28492532

NCBI chr 2:164,309,073...164,335,243
Ensembl chr 2:164,328,026...164,335,239

G

deoxynucleotidyltransferase, terminal, interacting protein 1

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

PMID:26255240 PMID:26376800 PMID:28492532

NCBI chr 2:164,587,935...164,610,140
Ensembl chr 2:164,587,903...164,610,527

G

engulfment and cell motility 2

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

PMID:26255240 PMID:26376800 PMID:28492532

NCBI chr 2:165,129,951...165,168,421
Ensembl chr 2:165,129,951...165,168,399

G

epididymal peptidase inhibitor

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

PMID:26255240 PMID:26376800 PMID:28492532

NCBI chr 2:164,430,263...164,435,491
Ensembl chr 2:164,430,263...164,435,514

G

fat storage-inducing transmembrane protein 2

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

PMID:26255240 PMID:26376800 PMID:28492532

NCBI chr 2:163,310,623...163,314,549
Ensembl chr 2:163,308,299...163,314,549

G

ganglioside-induced differentiation-associated protein 1-like 1

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

PMID:26255240 PMID:26376800 PMID:28492532

NCBI chr 2:163,280,387...163,297,264
Ensembl chr 2:163,280,396...163,297,244

G

gametocyte specific factor 1-like

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

PMID:26255240 PMID:26376800 PMID:28492532

NCBI chr 2:162,928,956...162,931,529
Ensembl chr 2:162,928,954...162,929,775

G

hepatic nuclear factor 4, alpha

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

PMID:26255240 PMID:26376800 PMID:28492532

NCBI chr 2:163,348,731...163,414,827
Ensembl chr 2:163,348,728...163,414,830

G

intraflagellar transport 52

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

PMID:26255240 PMID:26376800 PMID:28492532

NCBI chr 2:162,859,200...162,888,075
Ensembl chr 2:162,859,274...162,888,061

G

Janus kinase 3

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

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

NCBI chr 8:72,129,027...72,143,221
Ensembl chr 8:72,128,940...72,143,219

G

junctophilin 2

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

PMID:26255240 PMID:26376800 PMID:28492532

NCBI chr 2:163,178,162...163,239,969
Ensembl chr 2:163,178,162...163,239,913

G

potassium channel, subfamily K, member 15

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

PMID:26255240 PMID:26376800 PMID:28492532

NCBI chr 2:163,695,670...163,700,794
Ensembl chr 2:163,695,571...163,701,666

G

K+ voltage-gated channel, subfamily S, 1

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

PMID:26255240 PMID:26376800 PMID:28492532

NCBI chr 2:164,005,539...164,013,865
Ensembl chr 2:164,005,539...164,013,033

G

adenosine deaminase intronic regulatory elements

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

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

NCBI chr 2:163,577,759...163,588,199

G

matrilin 4

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

PMID:26255240 PMID:26376800 PMID:28492532

NCBI chr 2:164,231,313...164,247,080
Ensembl chr 2:164,231,313...164,247,080

G

matrix metallopeptidase 9

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

PMID:26255240 PMID:26376800 PMID:28492532

NCBI chr 2:164,782,246...164,797,770
Ensembl chr 2:164,782,700...164,797,770

G

myeloblastosis oncogene-like 2

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

PMID:26255240 PMID:26376800 PMID:28492532

NCBI chr 2:162,896,246...162,926,608
Ensembl chr 2:162,896,607...162,926,608

G

myosin, heavy polypeptide 7, cardiac muscle, beta

ClinVar Annotator: match by term: Bubble boy disease

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

NCBI chr14:55,208,141...55,232,083
Ensembl chr14:55,208,141...55,232,083

G

nuclear receptor coactivator 5

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

PMID:26255240 PMID:26376800 PMID:28492532

NCBI chr 2:164,842,273...164,876,794
Ensembl chr 2:164,842,277...164,876,787

G

neuralized E3 ubiquitin protein ligase 2

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

PMID:26255240 PMID:26376800 PMID:28492532

NCBI chr 2:164,672,650...164,675,516
Ensembl chr 2:164,672,652...164,675,376

G

osteoclast stimulatory transmembrane protein

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

PMID:26255240 PMID:26376800 PMID:28492532

NCBI chr 2:165,237,370...165,242,314
Ensembl chr 2:165,235,680...165,242,325

G

oxidative stress responsive serine rich 1

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

PMID:26255240 PMID:26376800 PMID:28492532

NCBI chr 2:163,247,742...163,266,422
Ensembl chr 2:163,247,742...163,266,617

G

poly(A) binding protein, cytoplasmic 1-like

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

PMID:26255240 PMID:26376800 PMID:28492532

NCBI chr 2:163,866,685...163,892,458
Ensembl chr 2:163,867,370...163,892,458

G

phosphorylated CTD interacting factor 1

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

PMID:26255240 PMID:26376800 PMID:28492532

NCBI chr 2:164,721,288...164,733,360
Ensembl chr 2:164,721,224...164,736,374

G

phosphatidylinositol glycan anchor biosynthesis, class T

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

PMID:26255240 PMID:26376800 PMID:28492532

NCBI chr 2:164,339,461...164,350,221
Ensembl chr 2:164,339,440...164,350,221

G

protein kinase inhibitor, gamma

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

PMID:26255240 PMID:26376800 PMID:28492532

NCBI chr 2:163,500,306...163,568,078
Ensembl chr 2:163,500,306...163,568,078

G

phospholipid transfer protein

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

PMID:26255240 PMID:26376800 PMID:28492532

NCBI chr 2:164,681,441...164,699,564
Ensembl chr 2:164,681,438...164,699,631

G

R3H domain containing-like

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

PMID:26255240 PMID:26376800 PMID:28492532

NCBI chr 2:163,333,364...163,344,532
Ensembl chr 2:163,334,238...163,344,532

G

recombination activating 1

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

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

NCBI chr 2:101,468,597...101,479,877
Ensembl chr 2:101,468,627...101,479,846

G

recombination signal binding protein for immunoglobulin kappa J region-like

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

PMID:26255240 PMID:26376800 PMID:28492532

NCBI chr 2:164,244,996...164,257,368
Ensembl chr 2:164,245,061...164,257,368

G

regulating synaptic membrane exocytosis 4

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

PMID:26255240 PMID:26376800 PMID:28492532

NCBI chr 2:163,701,676...163,760,893
Ensembl chr 2:163,701,671...163,760,603

G

syndecan 4

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

PMID:26255240 PMID:26376800 PMID:28492532

NCBI chr 2:164,266,167...164,285,512
Ensembl chr 2:164,266,167...164,285,807

G

semenogelin 1

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

PMID:26255240 PMID:26376800 PMID:28492532

NCBI chr 2:164,077,849...164,080,261
Ensembl chr 2:164,077,849...164,080,386

G

serine incorporator 3

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

PMID:26255240 PMID:26376800 PMID:28492532

NCBI chr 2:163,466,577...163,487,767
Ensembl chr 2:163,465,192...163,487,051

G

solute carrier family 12, member 5

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

PMID:26255240 PMID:26376800 PMID:28492532

NCBI chr 2:164,802,766...164,841,651
Ensembl chr 2:164,802,722...164,841,651

G

solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 3

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

PMID:26255240 PMID:26376800 PMID:28492532

NCBI chr 2:165,247,215...165,315,117
Ensembl chr 2:165,246,948...165,315,150

G

solute carrier family 2 (facilitated glucose transporter), member 10

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

PMID:26255240 PMID:26376800 PMID:28492532

NCBI chr 2:165,345,817...165,361,837
Ensembl chr 2:165,345,707...165,361,837

G

solute carrier family 35, member C2

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

PMID:26255240 PMID:26376800 PMID:28492532

NCBI chr 2:165,118,442...165,129,808
Ensembl chr 2:165,118,474...165,129,789

G

secretory leukocyte peptidase inhibitor

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

PMID:26255240 PMID:26376800 PMID:28492532

NCBI chr 2:164,195,990...164,231,086
Ensembl chr 2:164,195,990...164,231,015

G

sorting nexin family member 21

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

PMID:26255240 PMID:26376800 PMID:28492532

NCBI chr 2:164,627,535...164,635,730
Ensembl chr 2:164,627,743...164,635,736

G

spermatogenesis associated 25

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

PMID:26255240 PMID:26376800 PMID:28492532

NCBI chr 2:164,669,302...164,670,454
Ensembl chr 2:164,668,309...164,670,457

G

serine peptidase inhibitor, Kunitz type, 3

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

PMID:26255240 PMID:26376800 PMID:28492532

NCBI chr 2:164,411,641...164,415,355
Ensembl chr 2:164,411,615...164,415,379

G

serine protease inhibitor, Kunitz type 4

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

PMID:26255240 PMID:26376800 PMID:28492532

NCBI chr 2:164,540,421...164,544,368
Ensembl chr 2:164,540,421...164,544,373

G

serine/threonine kinase 4

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

PMID:26255240 PMID:26376800 PMID:28492532

NCBI chr 2:163,916,033...163,997,444
Ensembl chr 2:163,912,242...163,997,444

G

SYS1 Golgi-localized integral membrane protein homolog (S. cerevisiae)

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

PMID:26255240 PMID:26376800 PMID:28492532

NCBI chr 2:164,297,736...164,322,141
Ensembl chr 2:164,298,884...164,321,558

G

troponin C2, fast

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

PMID:26255240 PMID:26376800 PMID:28492532

NCBI chr 2:164,619,081...164,621,654
Ensembl chr 2:164,619,081...164,621,887

G

translocase of outer mitochondrial membrane 34

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

PMID:26255240 PMID:26376800 PMID:28492532

NCBI chr 2:163,895,458...163,913,168
Ensembl chr 2:163,895,460...163,913,089

G

TOX high mobility group box family member 2

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

PMID:26255240 PMID:26376800 PMID:28492532

NCBI chr 2:163,045,047...163,166,092
Ensembl chr 2:163,045,045...163,166,090

G

transformation related protein 53 regulating kinase A

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

PMID:26255240 PMID:26376800 PMID:28492532

NCBI chr 2:165,332,032...165,335,244
Ensembl chr 2:165,332,030...165,335,244

G

transformation related protein 53 target 5

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

PMID:26255240 PMID:26376800 PMID:28492532

NCBI chr 2:164,308,303...164,315,787
Ensembl chr 2:164,312,221...164,315,644

G

tocopherol (alpha) transfer protein-like

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

PMID:26255240 PMID:26376800 PMID:28492532

NCBI chr 2:163,444,206...163,460,933
Ensembl chr 2:163,444,234...163,460,933

G

ubiquitin-conjugating enzyme E2C

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

PMID:26255240 PMID:26376800 PMID:28492532

NCBI chr 2:164,611,849...164,614,822
Ensembl chr 2:164,611,818...164,620,742

G

WAP four-disulfide core domain 10

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

PMID:26255240 PMID:26376800 PMID:28492532

NCBI chr 2:164,497,966...164,499,288
Ensembl chr 2:164,497,966...164,499,288

G

WAP four-disulfide core domain 11

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

PMID:26255240 PMID:26376800 PMID:28492532

NCBI chr 2:164,504,814...164,516,011
Ensembl chr 2:164,504,814...164,516,007

G

WAP four-disulfide core domain 12

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

PMID:26255240 PMID:26376800 PMID:28492532

NCBI chr 2:164,031,151...164,032,528
Ensembl chr 2:164,031,151...164,032,528

G

WAP four-disulfide core domain 13

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

PMID:26255240 PMID:26376800 PMID:28492532

NCBI chr 2:164,527,027...164,529,626
Ensembl chr 2:164,527,027...164,529,626

G

WAP four-disulfide core domain 2

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

PMID:26255240 PMID:26376800 PMID:28492532

NCBI chr 2:164,404,635...164,410,430
Ensembl chr 2:164,404,333...164,410,430

G

WAP four-disulfide core domain 3

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

PMID:26255240 PMID:26376800 PMID:28492532

NCBI chr 2:164,573,222...164,587,914
Ensembl chr 2:164,573,100...164,587,851

G

WAP four-disulfide core domain 5

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

PMID:26255240 PMID:26376800 PMID:28492532

NCBI chr 2:164,018,245...164,024,662
Ensembl chr 2:164,018,247...164,024,662

G

WAP four-disulfide core domain 6A

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

PMID:26255240 PMID:26376800 PMID:28492532

NCBI chr 2:164,421,439...164,427,704
Ensembl chr 2:164,421,439...164,427,367

G

WAP four-disulfide core domain 8

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

PMID:26255240 PMID:26376800 PMID:28492532

NCBI chr 2:164,438,378...164,455,545
Ensembl chr 2:164,438,378...164,455,546

G

WAP four-disulfide core domain 9

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

PMID:26255240 PMID:26376800 PMID:28492532

NCBI chr 2:164,491,547...164,499,263
Ensembl chr 2:164,491,551...164,498,503

G

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

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

PMID:26255240 PMID:26376800 PMID:28492532

NCBI chr 2:163,837,082...163,860,508
Ensembl chr 2:163,836,880...163,860,508

G

zinc finger protein 334

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

PMID:26255240 PMID:26376800 PMID:28492532

NCBI chr 2:165,216,184...165,230,234
Ensembl chr 2:165,216,184...165,230,179

G

zinc finger protein 335

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

PMID:26255240 PMID:26376800 PMID:28492532

NCBI chr 2:164,733,802...164,756,034
Ensembl chr 2:164,733,802...164,753,677

G

zinc finger SWIM-type containing 1

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

PMID:26255240 PMID:26376800 PMID:28492532

NCBI chr 2:164,664,933...164,668,791
Ensembl chr 2:164,664,606...164,668,791

G

zinc finger SWIM-type containing 3

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

PMID:26255240 PMID:26376800 PMID:28492532

NCBI chr 2:164,647,034...164,664,047
Ensembl chr 2:164,647,018...164,664,050

adult T-cell leukemia/lymphoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

baculoviral IAP repeat-containing 5

CTD Direct Evidence: marker/mechanism

NCBI chr11:117,740,063...117,746,569
Ensembl chr11:117,740,077...117,746,569

G

bone morphogenetic protein 6

CTD Direct Evidence: marker/mechanism

NCBI chr13:38,529,098...38,684,283
Ensembl chr13:38,529,083...38,684,278

G

caspase recruitment domain family, member 11

CTD Direct Evidence: marker/mechanism

NCBI chr 5:140,858,109...140,986,398
Ensembl chr 5:140,858,745...140,986,337

G

C-C motif chemokine receptor 4

CTD Direct Evidence: marker/mechanism

NCBI chr 9:114,319,384...114,334,544
Ensembl chr 9:114,319,384...114,333,984

G

C-C motif chemokine receptor 7

CTD Direct Evidence: marker/mechanism

NCBI chr11:99,035,025...99,045,903
Ensembl chr11:99,035,022...99,045,903

G

CD163 antigen

disease_progression

protein:increased expression:lymph node tumor (human)

RGD

NCBI chr 6:124,281,596...124,307,488
Ensembl chr 6:124,281,615...124,307,486

G

CD274 antigen

disease_progression

RGD

NCBI chr19:29,339,428...29,365,495
Ensembl chr19:29,344,855...29,365,495

G

CD28 antigen

CTD Direct Evidence: marker/mechanism

NCBI chr 1:60,785,547...60,812,521
Ensembl chr 1:60,755,959...60,812,518

G

CD68 antigen

disease_progression

protein:increased expression:lymph node tumor (human)

RGD

NCBI chr11:69,555,039...69,556,996
Ensembl chr11:69,555,039...69,556,979

G

CD80 antigen

RGD

NCBI chr16:38,277,793...38,316,682
Ensembl chr16:38,275,923...38,316,697

G

CD86 antigen

RGD

NCBI chr16:36,389,318...36,486,439
Ensembl chr16:36,424,231...36,486,443

G

casein kinase 1, alpha 1

CTD Direct Evidence: marker/mechanism

NCBI chr18:61,687,307...61,723,391
Ensembl chr18:61,688,345...61,723,132

G

casein kinase 2, alpha 1 polypeptide

CTD Direct Evidence: marker/mechanism

NCBI chr 2:152,068,468...152,123,772
Ensembl chr 2:152,068,759...152,123,772

G

casein kinase 2, beta polypeptide

CTD Direct Evidence: marker/mechanism

NCBI chr17:35,335,171...35,341,029
Ensembl chr17:35,335,172...35,341,029

G

cytotoxic T-lymphocyte-associated protein 4

CTD Direct Evidence: marker/mechanism

NCBI chr 1:60,948,184...60,954,991
Ensembl chr 1:60,926,159...60,954,991

G

Fas cell surface death receptor

susceptibility

DNA:polymorphism:promoter: -670 G>A(human)
protein:increased expression:peripheral blood mononuclear cell:

RGD

PMID:17962369 PMID:7513372

RGD:11049147, RGD:11049453

NCBI chr19:34,267,926...34,305,175
Ensembl chr19:34,268,066...34,305,172

G

forkhead box P3

disease_progression

CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:23962110 PMID:23797717

NCBI chr X:7,445,915...7,461,482
Ensembl chr X:7,439,883...7,461,484

G

Fyn proto-oncogene

CTD Direct Evidence: marker/mechanism

NCBI chr10:39,245,735...39,441,377
Ensembl chr10:39,244,851...39,441,377

G

GATA binding protein 3

CTD Direct Evidence: marker/mechanism

NCBI chr 2:9,861,889...9,894,845
Ensembl chr 2:9,861,889...9,894,845

G

G protein-coupled receptor 183

CTD Direct Evidence: marker/mechanism

NCBI chr14:122,189,743...122,202,605
Ensembl chr14:122,189,963...122,202,607

G

heterogeneous nuclear ribonucleoprotein A2/B1

CTD Direct Evidence: marker/mechanism

NCBI chr 6:51,437,414...51,448,054
Ensembl chr 6:51,437,912...51,446,874

G

inducible T cell co-stimulator

CTD Direct Evidence: marker/mechanism

NCBI chr 1:60,999,909...61,039,481
Ensembl chr 1:61,017,086...61,039,479

G

interferon alpha 1

CTD Direct Evidence: therapeutic

NCBI chr 4:88,768,324...88,768,893
Ensembl chr 4:88,768,324...88,768,893

G

interferon gamma

treatment

CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:23962110 PMID:8800741

NCBI chr10:118,276,951...118,281,799
Ensembl chr10:118,276,951...118,281,797

G

IKAROS family zinc finger 2

CTD Direct Evidence: marker/mechanism

NCBI chr 1:69,570,382...69,726,510
Ensembl chr 1:69,570,373...69,726,404

G

interleukin 10

CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:23962110 PMID:8704212

NCBI chr 1:130,947,459...130,952,707
Ensembl chr 1:130,947,582...130,952,711

G

interleukin 2

CTD Direct Evidence: marker/mechanism

NCBI chr 3:37,174,862...37,180,103
Ensembl chr 3:37,174,672...37,180,108

G

interleukin 4

CTD Direct Evidence: marker/mechanism

NCBI chr11:53,503,287...53,509,492
Ensembl chr11:53,493,809...53,509,496

G

interleukin 5

disease_progression

protein:increased expression:serum

RGD

NCBI chr11:53,611,621...53,615,930
Ensembl chr11:53,611,621...53,615,933

G

interleukin 6

protein:increased expression:serum (human)

RGD

NCBI chr 5:30,218,112...30,224,973
Ensembl chr 5:30,218,112...30,224,979

G

interferon regulatory factor 4

CTD Direct Evidence: marker/mechanism

NCBI chr13:30,933,191...30,950,965
Ensembl chr13:30,933,209...30,950,959

G

Janus kinase 3

DNA:missense mutations: :p.L156P, p.R172Q, p.E183G (human)

RGD

NCBI chr 8:72,129,027...72,143,221
Ensembl chr 8:72,128,940...72,143,219

G

myeloblastosis oncogene

disease_progression

mRNA:splice variants:CD4+ T cell:

RGD

NCBI chr10:21,000,829...21,036,883
Ensembl chr10:21,000,834...21,036,883

G

notch 1

DNA:mutations:multiple (human)

RGD

NCBI chr 2:26,347,914...26,393,834
Ensembl chr 2:26,347,915...26,406,675

G

neuroblastoma ras oncogene

disease_progression

RGD

NCBI chr 3:102,965,643...102,975,230
Ensembl chr 3:102,965,601...102,975,230

G

phospholipase C, gamma 1

CTD Direct Evidence: marker/mechanism

NCBI chr 2:160,573,230...160,617,680
Ensembl chr 2:160,573,220...160,617,680

G

protein kinase C, beta

CTD Direct Evidence: marker/mechanism

NCBI chr 7:121,888,327...122,233,625
Ensembl chr 7:121,887,974...122,233,625

G

signal transducer and activator of transcription 3

CTD Direct Evidence: marker/mechanism

NCBI chr11:100,777,632...100,830,447
Ensembl chr11:100,775,924...100,830,366

G

T cell acute lymphocytic leukemia 2

NCBI chr 4:53,779,701...53,788,712
Ensembl chr 4:53,779,705...53,788,712

G

telomeric repeat binding factor 2

CTD Direct Evidence: marker/mechanism

NCBI chr 8:107,796,032...107,823,180
Ensembl chr 8:107,796,032...107,823,179

G

T cell leukemia, homeobox 1

CTD Direct Evidence: marker/mechanism

NCBI chr19:45,138,531...45,145,382
Ensembl chr19:45,139,119...45,145,382

G

tumor necrosis factor (ligand) superfamily, member 8

CTD Direct Evidence: marker/mechanism

NCBI chr 4:63,749,439...63,779,745
Ensembl chr 4:63,749,545...63,779,584

G

transformation related protein 53

GAD

NCBI chr11:69,471,174...69,482,699
Ensembl chr11:69,471,185...69,482,699

G

transformation related protein 73

CTD Direct Evidence: marker/mechanism

NCBI chr 4:154,140,706...154,224,332
Ensembl chr 4:154,140,706...154,224,665

G

vav 1 oncogene

CTD Direct Evidence: marker/mechanism

NCBI chr17:57,586,080...57,636,236
Ensembl chr17:57,586,100...57,635,031

agammaglobulinemia

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

B cell linker

susceptibility

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

CTD
RGD

NCBI chr19:40,917,371...40,982,664
Ensembl chr19:40,917,371...40,982,978

G

Bruton agammaglobulinemia tyrosine kinase

susceptibility

DNA:insertions, point mutations
ClinVar Annotator: match by term: Agammaglobulinemia
CTD Direct Evidence: therapeutic

ClinVar
CTD
RGD

PMID:10352268 PMID:15142874 PMID:8162018

NCBI chr X:133,443,083...133,484,366
Ensembl chr X:133,443,085...133,484,319

G

CD19 antigen

CTD Direct Evidence: marker/mechanism

NCBI chr 7:126,007,620...126,016,401
Ensembl chr 7:126,007,622...126,014,061

G

CD79A antigen (immunoglobulin-associated alpha)

CTD Direct Evidence: marker/mechanism

NCBI chr 7:24,596,922...24,601,283
Ensembl chr 7:24,596,806...24,601,622

G

CD79B antigen

CTD Direct Evidence: marker/mechanism

NCBI chr11:106,202,167...106,205,388
Ensembl chr11:106,202,167...106,205,588

G

immunoglobulin heavy constant mu

CTD Direct Evidence: marker/mechanism

NCBI chr12:113,382,446...113,386,350
Ensembl chr12:113,382,178...113,386,350

G

immunoglobulin lambda-like polypeptide 1

CTD Direct Evidence: marker/mechanism

NCBI chr16:16,678,535...16,681,849
Ensembl chr16:16,678,535...16,681,849

G

leucine rich repeat containing 8A VRAC subunit A

CTD Direct Evidence: marker/mechanism

CTD
RGD

NCBI chr 2:30,127,781...30,153,802
Ensembl chr 2:30,127,727...30,153,802

G

transcription factor 3

CTD Direct Evidence: marker/mechanism

NCBI chr10:80,245,375...80,269,814
Ensembl chr10:80,245,348...80,269,481

agammaglobulinemia 1

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

Bruton agammaglobulinemia tyrosine kinase

ClinVar Annotator: match by term: Autosomal recessive agammaglobulinemia 1

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

NCBI chr X:133,443,083...133,484,366
Ensembl chr X:133,443,085...133,484,319

G

CD79A antigen (immunoglobulin-associated alpha)

ClinVar Annotator: match by term: Autosomal recessive agammaglobulinemia 1

PMID:25741868 PMID:28492532

NCBI chr 7:24,596,922...24,601,283
Ensembl chr 7:24,596,806...24,601,622

G

immunoglobulin heavy constant mu

ClinVar Annotator: match by term: Autosomal recessive agammaglobulinemia 1

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

NCBI chr12:113,382,446...113,386,350
Ensembl chr12:113,382,178...113,386,350

agammaglobulinemia 10

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

Spi-1 proto-oncogene

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

PMID:25741868 PMID:33951726

NCBI chr 2:90,912,750...90,946,104
Ensembl chr 2:90,912,735...90,946,101

agammaglobulinemia 2

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

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

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

NCBI chr10:75,768,964...75,773,584
Ensembl chr10:75,768,964...75,773,581

G

Der1-like domain family, member 3

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

NCBI chr10:75,729,232...75,731,775
Ensembl chr10:75,729,247...75,731,775

G

predicted gene 867

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

NCBI chr10:75,773,553...75,776,508
Ensembl chr10:75,773,557...75,776,506

G

immunoglobulin lambda-like polypeptide 1

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

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

NCBI chr16:16,678,535...16,681,849
Ensembl chr16:16,678,535...16,681,849

G

macrophage migration inhibitory factor (glycosylation-inhibiting factor)

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

NCBI chr10:75,695,187...75,696,111
Ensembl chr10:75,695,187...75,696,074

G

matrix metallopeptidase 11

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

NCBI chr10:75,759,056...75,768,336
Ensembl chr10:75,759,056...75,772,330

G

SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1

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

NCBI chr10:75,732,603...75,757,448
Ensembl chr10:75,732,603...75,757,451

G

V-set pre-B cell surrogate light chain 3

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

NCBI chr10:75,778,859...75,785,491
Ensembl chr10:75,778,891...75,785,491

agammaglobulinemia 3

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

CD79A antigen (immunoglobulin-associated alpha)

ClinVar Annotator: match by term: AGAMMAGLOBULINEMIA, AUTOSOMAL RECESSIVE, DUE TO CD79A DEFECT | ClinVar Annotator: match by term: Agammaglobulinemia 3, autosomal recessive

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

NCBI chr 7:24,596,922...24,601,283
Ensembl chr 7:24,596,806...24,601,622

G

ribosomal protein S19

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

NCBI chr 7:24,584,013...24,589,236
Ensembl chr 7:24,583,796...24,589,231

agammaglobulinemia 4

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

aldehyde dehydrogenase 18 family, member A1

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

NCBI chr19:40,538,701...40,576,907
Ensembl chr19:40,538,701...40,576,907

G

B cell linker

ClinVar Annotator: match by term: AGAMMAGLOBULINEMIA, AUTOSOMAL RECESSIVE, DUE TO BLNK DEFECT | ClinVar Annotator: match by term: Agammaglobulinemia 4, autosomal recessive

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

NCBI chr19:40,917,371...40,982,664
Ensembl chr19:40,917,371...40,982,978

G

coiled-coil and C2 domain containing 2B

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

NCBI chr19:40,737,197...40,818,227
Ensembl chr19:40,737,197...40,816,187

G

cyclin J

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

NCBI chr19:40,819,345...40,837,016
Ensembl chr19:40,819,723...40,837,016

G

ectonucleoside triphosphate diphosphohydrolase 1

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

NCBI chr19:40,600,810...40,730,046
Ensembl chr19:40,600,810...40,730,046

G

tectonic family member 3

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

NCBI chr19:40,584,890...40,600,768
Ensembl chr19:40,584,890...40,600,677

G

zinc finger protein 518A

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

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

NCBI chr19:40,882,472...40,906,391
Ensembl chr19:40,883,149...40,906,391

agammaglobulinemia 5

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

leucine rich repeat containing 8A VRAC subunit A

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

PMID:24033266 PMID:25741868 PMID:28492532

NCBI chr 2:30,127,781...30,153,802
Ensembl chr 2:30,127,727...30,153,802

agammaglobulinemia 6

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

CD79B antigen

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

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

NCBI chr11:106,202,167...106,205,388
Ensembl chr11:106,202,167...106,205,588

agammaglobulinemia 7

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

phosphoinositide-3-kinase regulatory subunit 1

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

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

NCBI chr13:101,817,269...101,904,725
Ensembl chr13:101,817,071...101,904,725

Agammaglobulinemia 8

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

transcription factor 3

ClinVar Annotator: match by term: TCF3-related condition

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

NCBI chr10:80,245,375...80,269,814
Ensembl chr10:80,245,348...80,269,481

agammaglobulinemia 8A

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

transcription factor 3

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

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

NCBI chr10:80,245,375...80,269,814
Ensembl chr10:80,245,348...80,269,481

agammaglobulinemia 8B

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

transcription factor 3

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

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

NCBI chr10:80,245,375...80,269,814
Ensembl chr10:80,245,348...80,269,481

agammaglobulinemia 9

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

solute carrier family 39 (zinc transporter), member 7

ClinVar Annotator: match by term: Agammaglobulinemia 9, autosomal recessive

PMID:25741868 PMID:28492532 PMID:30718914

NCBI chr17:34,247,240...34,250,664
Ensembl chr17:34,247,243...34,250,656

anaplastic large cell lymphoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

anaplastic lymphoma kinase

CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:16151469 PMID:19503098 PMID:21345110 PMID:22155737 PMID:22920921 More...

NCBI chr17:72,174,206...72,911,719
Ensembl chr17:72,175,967...72,911,622

G

heat shock protein 90, alpha (cytosolic), class A member 1

CTD Direct Evidence: marker/mechanism

NCBI chr12:110,657,470...110,662,829
Ensembl chr12:110,657,039...110,669,162

G

interferon regulatory factor 4

DNA:translocation

RGD

NCBI chr13:30,933,191...30,950,965
Ensembl chr13:30,933,209...30,950,959

G

jun B proto-oncogene

RGD

NCBI chr 8:85,703,538...85,705,377
Ensembl chr 8:85,701,113...85,705,347

G

nucleophosmin 1

RGD

NCBI chr11:33,102,498...33,114,143
Ensembl chr11:33,102,287...33,113,206

G

v-rel reticuloendotheliosis viral oncogene homolog A (avian)

CTD Direct Evidence: marker/mechanism

NCBI chr19:5,686,993...5,698,162
Ensembl chr19:5,687,511...5,698,158

G

signal transducer and activator of transcription 3

CTD Direct Evidence: marker/mechanism

NCBI chr11:100,777,632...100,830,447
Ensembl chr11:100,775,924...100,830,366

G

tumor necrosis factor receptor superfamily, member 8

CTD Direct Evidence: marker/mechanism

PMID:10908157 PMID:17261581

NCBI chr 4:144,993,702...145,041,734
Ensembl chr 4:144,993,707...145,041,734

G

twist basic helix-loop-helix transcription factor 1

CTD Direct Evidence: marker/mechanism

NCBI chr12:34,007,670...34,009,830
Ensembl chr12:34,007,670...34,009,828

angioimmunoblastic T-cell lymphoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

tet methylcytosine dioxygenase 2

ClinVar Annotator: match by term: Angioimmunoblastic T-cell lymphoma

PMID:19797729 PMID:27210295 PMID:27276561 PMID:28337768 PMID:28492532 More...

NCBI chr 3:133,169,438...133,250,882
Ensembl chr 3:133,169,440...133,250,900

autoimmune lymphoproliferative syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

RIKEN cDNA 4930558K02 gene

ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT

PMID:22857792 PMID:25451160 PMID:28492532

NCBI chr 1:161,769,658...161,809,940
Ensembl chr 1:161,769,655...161,807,205

G

actin alpha 2, smooth muscle, aorta

ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 1, autosomal dominant

PMID:10875918 PMID:16199547 PMID:18948840 PMID:22237435 PMID:28492532 More...

NCBI chr19:34,217,736...34,232,985
Ensembl chr19:34,218,490...34,232,990

G

ankyrin repeat domain 22

ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 1, autosomal dominant

PMID:10875918 PMID:22237435 PMID:28492532

NCBI chr19:34,099,949...34,143,441
Ensembl chr19:34,098,869...34,143,453

G

ankyrin repeat domain 45

ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT

PMID:22857792 PMID:25451160 PMID:28492532

NCBI chr 1:160,970,017...160,998,077
Ensembl chr 1:160,970,261...160,998,068

G

caspase 8

CTD Direct Evidence: marker/mechanism

NCBI chr 1:58,834,553...58,886,663
Ensembl chr 1:58,834,533...58,886,662

G

centromere protein L

ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT

PMID:22857792 PMID:25451160 PMID:28492532

NCBI chr 1:160,898,337...160,914,294
Ensembl chr 1:160,898,283...160,914,294

G

cholesterol 25-hydroxylase

ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 1, autosomal dominant

PMID:10875918 PMID:22237435 PMID:28492532

NCBI chr19:34,451,183...34,452,548
Ensembl chr19:34,451,178...34,452,564

G

aspartyl-tRNA synthetase 2 (mitochondrial)

ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT

PMID:22857792 PMID:25451160 PMID:28492532

NCBI chr 1:160,868,171...160,898,236
Ensembl chr 1:160,868,171...160,898,228

G

dynamin 3

ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT

PMID:22857792 PMID:25451160 PMID:28492532

NCBI chr 1:161,810,022...162,305,890
Ensembl chr 1:161,810,022...162,305,603

G

dynamin 3, opposite strand

ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT

PMID:22857792 PMID:25451160 PMID:28492532

NCBI chr 1:162,045,192...162,053,119
Ensembl chr 1:162,045,192...162,053,119

G

Fas cell surface death receptor

ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 1, autosomal dominant
OMIM:601859
DNA:mutations:cds:555C>T,889A>G(human)
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
MouseDO
CTD
RGD

PMID:1090885 PMID:2149015 PMID:4852259 PMID:7540117 PMID:9028321 More...

RGD:12904015, RGD:12903983, RGD:12903956

NCBI chr19:34,267,926...34,305,175
Ensembl chr19:34,268,066...34,305,172

G

Fas ligand

susceptibility

OMIM:601859
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 1, autosomal dominant

MouseDO
OMIM
CTD
ClinVar

PMID:8787672 PMID:9536098 PMID:16627752 PMID:17576681 PMID:17605793 More...

NCBI chr 1:161,608,260...161,616,064
Ensembl chr 1:161,608,258...161,616,064

G

growth arrest specific 5

ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT

PMID:22857792 PMID:25451160 PMID:28492532

NCBI chr 1:160,862,171...160,866,109
Ensembl chr 1:160,861,992...160,866,116

G

predicted gene 6185

ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT

PMID:22857792 PMID:25451160 PMID:28492532

NCBI chr 1:161,006,274...161,062,743
Ensembl chr 1:161,003,171...161,064,877

G

interferon-induced protein with tetratricopeptide repeats 1

ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT

NCBI chr19:34,618,289...34,627,409
Ensembl chr19:34,618,271...34,627,409

G

interferon induced protein with tetratricpeptide repeats 1B like 1

ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT

NCBI chr19:34,570,288...34,640,382
Ensembl chr19:34,570,291...34,579,356

G

interferon-induced protein with tetratricopeptide repeats 2

ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 1, autosomal dominant

PMID:10875918 PMID:22237435 PMID:28492532

NCBI chr19:34,527,961...34,553,934
Ensembl chr19:34,528,094...34,553,819

G

interferon-induced protein with tetratricopeptide repeats 3

ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 1, autosomal dominant

PMID:10875918 PMID:22237435 PMID:28492532

NCBI chr19:34,560,519...34,566,382
Ensembl chr19:34,560,931...34,566,131

G

kelch-like 20

ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT

PMID:22857792 PMID:25451160 PMID:28492532

NCBI chr 1:160,915,945...160,959,078
Ensembl chr 1:160,915,945...160,959,081

G

lysosomal acid lipase A

ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 1, autosomal dominant

PMID:10875918 PMID:22237435 PMID:28492532

NCBI chr19:34,469,716...34,504,874
Ensembl chr19:34,469,718...34,504,874

G

lipase, gastric

ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT

NCBI chr19:33,938,648...33,954,213
Ensembl chr19:33,938,587...33,954,210

G

lipase, family member K

ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT

NCBI chr19:33,985,654...34,025,303
Ensembl chr19:33,985,690...34,025,235

G

lipase, family member M

ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 1, autosomal dominant

PMID:10875918 PMID:22237435 PMID:28492532

NCBI chr19:34,078,343...34,100,087
Ensembl chr19:34,078,333...34,100,087

G

lipase, family member N

ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 1, autosomal dominant

PMID:10875918 PMID:22237435 PMID:28492532

NCBI chr19:34,044,458...34,063,346
Ensembl chr19:34,044,758...34,062,318

G

methyltransferase 13, eEF1A lysine and N-terminal methyltransferase

ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT

PMID:22857792 PMID:25451160 PMID:28492532

NCBI chr 1:162,359,694...162,376,098
Ensembl chr 1:162,359,696...162,376,120

G

microRNA 199a-2

ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT

PMID:22857792 PMID:25451160 PMID:28492532

NCBI chr 1:162,045,383...162,045,492
Ensembl chr 1:162,045,383...162,045,492

G

microRNA 214

ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT

PMID:22857792 PMID:25451160 PMID:28492532

NCBI chr 1:162,050,937...162,051,046
Ensembl chr 1:162,050,937...162,051,046

G

matrix metallopeptidase 9

disease_progression

RGD

NCBI chr 2:164,782,246...164,797,770
Ensembl chr 2:164,782,700...164,797,770

G

myocilin

ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT

PMID:22857792 PMID:25451160 PMID:28492532

NCBI chr 1:162,466,719...162,477,263
Ensembl chr 1:162,466,724...162,477,262

G

neuroblastoma ras oncogene

CTD Direct Evidence: marker/mechanism

NCBI chr 3:102,965,643...102,975,230
Ensembl chr 3:102,965,601...102,975,230

G

olfactory receptor family 5 subfamily AN member 1

ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT

NCBI chr19:12,257,218...12,261,352
Ensembl chr19:12,257,218...12,262,990

G

phosphatidylinositol glycan anchor biosynthesis, class C

ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT

PMID:22857792 PMID:25451160 PMID:28492532

NCBI chr 1:161,796,757...161,801,029
Ensembl chr 1:161,796,755...161,801,004

G

peroxiredoxin 6

ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT

PMID:22857792 PMID:25451160 PMID:28492532

NCBI chr 1:161,067,682...161,078,780
Ensembl chr 1:161,067,682...161,078,789

G

RING CCCH (C3H) domains 1

ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT

PMID:22857792 PMID:25451160 PMID:28492532

NCBI chr 1:160,733,981...160,802,546
Ensembl chr 1:160,733,988...160,802,548

G

renalase, FAD-dependent amine oxidase

ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT

NCBI chr19:33,115,140...33,369,695
Ensembl chr19:33,115,147...33,369,665

G

serine (or cysteine) peptidase inhibitor, clade C (antithrombin), member 1

ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT

PMID:22857792 PMID:25451160 PMID:28492532

NCBI chr 1:160,806,153...160,830,113
Ensembl chr 1:160,806,155...160,833,433

G

solute carrier family 16 (monocarboxylic acid transporters), member 12

ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT

NCBI chr19:34,645,801...34,725,223
Ensembl chr19:34,645,803...34,724,689

G

STAM binding protein like 1

ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 1, autosomal dominant

PMID:10875918 PMID:22237435 PMID:28492532

NCBI chr19:34,169,629...34,217,733
Ensembl chr19:34,169,629...34,217,733

G

SUN domain containing ossification factor

ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT

PMID:22857792 PMID:25451160 PMID:28492532

NCBI chr 1:161,643,681...161,704,506
Ensembl chr 1:161,643,683...161,704,251

G

tumor necrosis factor (ligand) superfamily, member 18

ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT

PMID:22857792 PMID:25451160 PMID:28492532

NCBI chr 1:161,322,221...161,333,903
Ensembl chr 1:161,322,224...161,332,859

G

tumor necrosis factor (ligand) superfamily, member 4

ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT

PMID:22857792 PMID:25451160 PMID:28492532

NCBI chr 1:161,223,009...161,245,777
Ensembl chr 1:161,222,980...161,245,981

G

vesicle-associated membrane protein 4

ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT

PMID:22857792 PMID:25451160 PMID:28492532

NCBI chr 1:162,398,084...162,426,651
Ensembl chr 1:162,398,084...162,426,653

G

zinc finger and BTB domain containing 37

ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT

PMID:22857792 PMID:25451160 PMID:28492532

NCBI chr 1:160,830,492...160,862,432
Ensembl chr 1:160,830,492...160,862,419

autoimmune lymphoproliferative syndrome type 2B

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

abl interactor 2

ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 2B

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

NCBI chr 1:60,444,927...60,521,104
Ensembl chr 1:60,448,778...60,520,317

G

alsin Rho guanine nucleotide exchange factor

ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 2B

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

NCBI chr 1:59,201,915...59,276,390
Ensembl chr 1:59,202,085...59,276,390

G

bone morphogenetic protein receptor type 2

ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 2B

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

NCBI chr 1:59,802,721...59,917,240
Ensembl chr 1:59,802,559...59,918,173

G

C2 calcium dependent domain containing 6

ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 2B

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

NCBI chr 1:59,036,275...59,134,283
Ensembl chr 1:59,036,275...59,134,059

G

calcium response factor

ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 2B

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

NCBI chr 1:60,137,380...60,193,112
Ensembl chr 1:60,137,406...60,193,112

G

caspase 8

ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 2B | ClinVar Annotator: match by term: Caspase-8 deficiency
OMIM:607271

OMIM
ClinVar
MouseDO

PMID:9536098 PMID:11343122 PMID:12353035 PMID:12577056 PMID:15601643 More...

NCBI chr 1:58,834,553...58,886,663
Ensembl chr 1:58,834,533...58,886,662

G

CD28 antigen

ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 2B

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

NCBI chr 1:60,785,547...60,812,521
Ensembl chr 1:60,755,959...60,812,518

G

cyclin dependent kinase 15

ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 2B

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

NCBI chr 1:59,296,029...59,391,656
Ensembl chr 1:59,296,065...59,392,152

G

CASP8 and FADD-like apoptosis regulator

ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 2B

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

NCBI chr 1:58,750,353...58,798,043
Ensembl chr 1:58,750,667...58,798,043

G

cytotoxic T-lymphocyte-associated protein 4

ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 2B

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

NCBI chr 1:60,948,184...60,954,991
Ensembl chr 1:60,926,159...60,954,991

G

cytochrome P450, family 20, subfamily a, polypeptide 1

ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 2B

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

NCBI chr 1:60,382,459...60,427,219
Ensembl chr 1:60,382,482...60,427,219

G

family with sequence similarity 117, member B

ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 2B

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

NCBI chr 1:59,952,165...60,024,507
Ensembl chr 1:59,952,165...60,024,505

G

flagellum associated containing coiled-coil domains 1

ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 2B

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

NCBI chr 1:58,696,085...58,735,167
Ensembl chr 1:58,686,062...58,735,148

G

frizzled class receptor 7

ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 2B

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

NCBI chr 1:59,521,306...59,526,114
Ensembl chr 1:59,521,583...59,526,114

G

islet cell autoantigen 1-like

ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 2B

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

NCBI chr 1:60,024,955...60,082,646
Ensembl chr 1:60,021,649...60,082,343

G

inducible T cell co-stimulator

ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 2B

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

NCBI chr 1:60,999,909...61,039,481
Ensembl chr 1:61,017,086...61,039,479

G

membrane protein, palmitoylated 4 (MAGUK p55 subfamily member 4)

ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 2B

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

NCBI chr 1:59,160,094...59,202,548
Ensembl chr 1:59,160,094...59,202,548

G

neurobeachin like 1

ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 2B

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

NCBI chr 1:60,217,910...60,377,487
Ensembl chr 1:60,219,758...60,377,487

G

NADH:ubiquinone oxidoreductase subunit B3

ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 2B

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

NCBI chr 1:58,625,556...58,635,123
Ensembl chr 1:58,625,543...58,635,123

G

NOP58 ribonucleoprotein

ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 2B

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

NCBI chr 1:59,724,165...59,751,352
Ensembl chr 1:59,724,130...59,758,203

G

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

ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 2B

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

NCBI chr 1:60,509,997...60,606,233
Ensembl chr 1:60,521,451...60,606,263

G

STE20-related kinase adaptor beta

ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 2B

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

NCBI chr 1:59,012,681...59,034,281
Ensembl chr 1:59,012,681...59,034,874

G

small ubiquitin-like modifier 1

ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 2B

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

NCBI chr 1:59,678,593...59,709,993
Ensembl chr 1:59,625,717...59,709,993

G

transmembrane protein 237

ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 2B

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

NCBI chr 1:59,139,743...59,159,567
Ensembl chr 1:59,139,749...59,159,567

G

trafficking protein, kinesin binding 2

ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 2B

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

NCBI chr 1:58,939,608...59,013,509
Ensembl chr 1:58,939,608...59,012,589

G

WD repeat domain 12

ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 2B

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

NCBI chr 1:60,110,520...60,137,659
Ensembl chr 1:60,108,944...60,137,804

autoimmune lymphoproliferative syndrome type 3

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

protein kinase C, delta

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

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

NCBI chr14:30,317,310...30,348,637
Ensembl chr14:30,317,311...30,348,167

G

RFT1 homolog

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

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

NCBI chr14:30,375,041...30,413,274
Ensembl chr14:30,376,317...30,413,274

autoimmune lymphoproliferative syndrome type 4

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

Kirsten rat sarcoma viral oncogene homolog

ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IV | ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 4 | ClinVar Annotator: match by term: RAS-associated autoimmune leukoproliferative disorder

PMID:2278970 PMID:2547513 PMID:3122217 PMID:3627975 PMID:7773929 More...

NCBI chr 6:145,162,425...145,197,631
Ensembl chr 6:145,162,425...145,195,965

G

neuroblastoma ras oncogene

ClinVar Annotator: match by term: RAS-associated autoimmune leukoproliferative disorder

PMID:2278970 PMID:2407301 PMID:2674680 PMID:2989702 PMID:3122217 More...

NCBI chr 3:102,965,643...102,975,230
Ensembl chr 3:102,965,601...102,975,230

Autoimmune Lymphoproliferative Syndrome, Type IA

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

Fas cell surface death receptor

ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome, type 1a

PMID:4165068 PMID:4852259 PMID:7539157 PMID:7540117 PMID:8929361 More...

NCBI chr19:34,267,926...34,305,175
Ensembl chr19:34,268,066...34,305,172

Autoimmune Lymphoproliferative Syndrome, Type IB

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

Fas ligand

ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome, type 1b

PMID:8787672 PMID:25741868

NCBI chr 1:161,608,260...161,616,064
Ensembl chr 1:161,608,258...161,616,064

Autoimmune Lymphoproliferative Syndrome, Type V

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

abl interactor 2

ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type V

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

NCBI chr 1:60,444,927...60,521,104
Ensembl chr 1:60,448,778...60,520,317

G

alsin Rho guanine nucleotide exchange factor

ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type V

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

NCBI chr 1:59,201,915...59,276,390
Ensembl chr 1:59,202,085...59,276,390

G

bone morphogenetic protein receptor type 2

ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type V

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

NCBI chr 1:59,802,721...59,917,240
Ensembl chr 1:59,802,559...59,918,173

G

C2 calcium dependent domain containing 6

ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type V

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

NCBI chr 1:59,036,275...59,134,283
Ensembl chr 1:59,036,275...59,134,059

G

calcium response factor

ClinVar Annotator: match by term: IMMUNE DYSREGULATION WITH AUTOIMMUNITY, IMMUNODEFICIENCY, AND LYMPHOPROLIFERATION

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

NCBI chr 1:60,137,380...60,193,112
Ensembl chr 1:60,137,406...60,193,112

G

caspase 8

ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type V

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

NCBI chr 1:58,834,553...58,886,663
Ensembl chr 1:58,834,533...58,886,662

G

CD28 antigen

ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type V

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

NCBI chr 1:60,785,547...60,812,521
Ensembl chr 1:60,755,959...60,812,518

G

cyclin dependent kinase 15

ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type V

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

NCBI chr 1:59,296,029...59,391,656
Ensembl chr 1:59,296,065...59,392,152

G

CASP8 and FADD-like apoptosis regulator

ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type V

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

NCBI chr 1:58,750,353...58,798,043
Ensembl chr 1:58,750,667...58,798,043

G

cytotoxic T-lymphocyte-associated protein 4

susceptibility

ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type V | ClinVar Annotator: match by term: CTLA4 HAPLOINSUFFICIENCY WITH AUTOIMMUNE INFILTRATION | ClinVar Annotator: match by term: IMMUNE DYSREGULATION WITH AUTOIMMUNITY, IMMUNODEFICIENCY, AND LYMPHOPROLIFERATION

PMID:8817351 PMID:9259273 PMID:9398726 PMID:9536098 PMID:10189842 More...

NCBI chr 1:60,948,184...60,954,991
Ensembl chr 1:60,926,159...60,954,991

G

cytochrome P450, family 20, subfamily a, polypeptide 1

ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type V

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

NCBI chr 1:60,382,459...60,427,219
Ensembl chr 1:60,382,482...60,427,219

G

family with sequence similarity 117, member B

ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type V

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

NCBI chr 1:59,952,165...60,024,507
Ensembl chr 1:59,952,165...60,024,505

G

flagellum associated containing coiled-coil domains 1

ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type V

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

NCBI chr 1:58,696,085...58,735,167
Ensembl chr 1:58,686,062...58,735,148

G

frizzled class receptor 7

ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type V

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

NCBI chr 1:59,521,306...59,526,114
Ensembl chr 1:59,521,583...59,526,114

G

islet cell autoantigen 1-like

ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type V

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

NCBI chr 1:60,024,955...60,082,646
Ensembl chr 1:60,021,649...60,082,343

G

inducible T cell co-stimulator

ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type V

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

NCBI chr 1:60,999,909...61,039,481
Ensembl chr 1:61,017,086...61,039,479

G

membrane protein, palmitoylated 4 (MAGUK p55 subfamily member 4)

ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type V

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

NCBI chr 1:59,160,094...59,202,548
Ensembl chr 1:59,160,094...59,202,548

G

neurobeachin like 1

ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type V

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

NCBI chr 1:60,217,910...60,377,487
Ensembl chr 1:60,219,758...60,377,487

G

NADH:ubiquinone oxidoreductase subunit B3

ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type V

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

NCBI chr 1:58,625,556...58,635,123
Ensembl chr 1:58,625,543...58,635,123

G

NOP58 ribonucleoprotein

ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type V

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

NCBI chr 1:59,724,165...59,751,352
Ensembl chr 1:59,724,130...59,758,203

G

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

ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type V

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

NCBI chr 1:60,509,997...60,606,233
Ensembl chr 1:60,521,451...60,606,263

G

STE20-related kinase adaptor beta

ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type V

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

NCBI chr 1:59,012,681...59,034,281
Ensembl chr 1:59,012,681...59,034,874

G

small ubiquitin-like modifier 1

ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type V

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

NCBI chr 1:59,678,593...59,709,993
Ensembl chr 1:59,625,717...59,709,993

G

transmembrane protein 237

ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type V

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

NCBI chr 1:59,139,743...59,159,567
Ensembl chr 1:59,139,749...59,159,567

G

trafficking protein, kinesin binding 2

ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type V

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

NCBI chr 1:58,939,608...59,013,509
Ensembl chr 1:58,939,608...59,012,589

G

WD repeat domain 12

ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type V

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

NCBI chr 1:60,110,520...60,137,659
Ensembl chr 1:60,108,944...60,137,804

autosomal recessive osteopetrosis 7

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

tumor necrosis factor receptor superfamily, member 11a, NFKB activator

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

OMIM
CTD
ClinVar

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

NCBI chr 1:105,708,443...105,777,172
Ensembl chr 1:105,708,443...105,775,709

B-cell acute lymphoblastic leukemia

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

excision repair cross-complementing rodent repair deficiency, complementation group 4

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

PMID:23623386 PMID:25741868

NCBI chr16:12,927,600...12,969,873
Ensembl chr16:12,927,548...12,968,481

G

Wt1 promoter region

ClinVar Annotator: match by term: B Acute Lymphoblastic Leukemia

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

NCBI chr 2:104,956,361...104,957,127

G

neurofibromin 1

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

PMID:9536098 PMID:17576681 PMID:23656349 PMID:25741868 PMID:28492532

NCBI chr11:79,223,541...79,472,435
Ensembl chr11:79,230,519...79,472,438

G

WT1 transcription factor

ClinVar Annotator: match by term: B Acute Lymphoblastic Leukemia

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

NCBI chr 2:104,956,874...105,003,959
Ensembl chr 2:104,956,874...105,003,961

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 (Junior blood group)

susceptibility

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

RGD

NCBI chr 6:58,561,476...58,669,436
Ensembl chr 6:58,561,508...58,672,661

G

acyl-Coenzyme A oxidase-like

CTD Direct Evidence: marker/mechanism

NCBI chr 2:127,680,717...127,968,172
Ensembl chr 2:127,680,796...127,965,793

G

activation-induced cytidine deaminase

disease_progression

RGD

NCBI chr 6:122,530,768...122,541,139
Ensembl chr 6:122,530,760...122,541,139

G

apolipoprotein E

disease_progression

RGD

NCBI chr 7:19,430,169...19,434,326
Ensembl chr 7:19,430,034...19,433,113

G

ataxia telangiectasia mutated

CTD Direct Evidence: marker/mechanism

NCBI chr 9:53,348,422...53,448,125
Ensembl chr 9:53,350,449...53,448,040

G

BCL11 transcription factor A

DNA:translocation:5' utr: (human)

RGD

NCBI chr11:24,026,498...24,123,558
Ensembl chr11:24,028,056...24,124,123

G

B cell leukemia/lymphoma 2

treatment
severity
no_association

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

CTD
RGD

PMID:21750559 PMID:23770605 PMID:17296974 PMID:20001236 PMID:17959858 More...

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

NCBI chr 1:106,465,906...106,642,020
Ensembl chr 1:106,465,908...106,642,004

G

BCL2 modifying factor

CTD Direct Evidence: marker/mechanism

NCBI chr 2:118,359,238...118,385,240
Ensembl chr 2:118,359,238...118,380,168

G

Braf transforming gene

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 chr 6:39,580,171...39,702,592
Ensembl chr 6:39,580,171...39,702,397

G

Bruton agammaglobulinemia tyrosine kinase

treatment

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

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

NCBI chr X:133,443,083...133,484,366
Ensembl chr X:133,443,085...133,484,319

G

Casitas B-lineage lymphoma

severity

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

RGD

PMID:17804547 PMID:17804547

RGD:11038803, RGD:11038803

NCBI chr 9:44,054,273...44,145,556
Ensembl chr 9:44,054,273...44,145,346

G

coiled-coil domain containing 50

RGD

NCBI chr16:27,205,815...27,270,968
Ensembl chr16:27,207,619...27,270,968

G

CD40 antigen

RGD

NCBI chr 2:164,897,535...164,913,574
Ensembl chr 2:164,897,547...164,914,868

G

CD40 ligand

mouse-human chimeric gene in human

RGD

NCBI chr X:56,257,448...56,269,402
Ensembl chr X:56,257,503...56,269,402

G

CD5 antigen

CTD Direct Evidence: marker/mechanism

NCBI chr19:10,695,471...10,716,390
Ensembl chr19:10,694,480...10,716,366

G

CD79B antigen

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

RGD

PMID:9269755 PMID:10552962 PMID:10090943

RGD:11250403, RGD:151665202, RGD:151665190

NCBI chr11:106,202,167...106,205,388
Ensembl chr11:106,202,167...106,205,588

G

CD86 antigen

severity

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

RGD

NCBI chr16:36,389,318...36,486,439
Ensembl chr16:36,424,231...36,486,443

G

cytoplasmic polyadenylation element binding protein 1

CTD Direct Evidence: marker/mechanism

NCBI chr 7:80,996,774...81,105,207
Ensembl chr 7:80,996,774...81,105,213

G

cytotoxic T-lymphocyte-associated protein 4

protein:increased expression:T cell

RGD

PMID:16094420 PMID:15914560

RGD:11344923, RGD:11352246

NCBI chr 1:60,948,184...60,954,991
Ensembl chr 1:60,926,159...60,954,991

G

dyskeratosis congenita 1, dyskerin

RGD

NCBI chr X:74,139,460...74,153,382
Ensembl chr X:74,139,460...74,153,383

G

DNA methyltransferase 3B

mRNA:decreased expression: B cell

RGD

NCBI chr 2:153,491,332...153,529,650
Ensembl chr 2:153,491,370...153,529,650

G

excision repair cross-complementing rodent repair deficiency, complementation group 2

severity

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

RGD

PMID:22739018 PMID:19484764

RGD:11252203, RGD:11252204

NCBI chr 7:19,115,942...19,129,619
Ensembl chr 7:19,115,935...19,129,619

G

FERM, RhoGEF and pleckstrin domain protein 2

CTD Direct Evidence: marker/mechanism

NCBI chr 1:93,439,826...93,549,698
Ensembl chr 1:93,439,801...93,549,698

G

Fas cell surface death receptor

disease_progression

RGD

NCBI chr19:34,267,926...34,305,175
Ensembl chr19:34,268,066...34,305,172

G

F-box and WD-40 domain protein 7

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

PMID:25741868 PMID:26619011

NCBI chr 3:84,721,901...84,886,505
Ensembl chr 3:84,722,575...84,886,505

G

Fc receptor, IgG, low affinity IV

no_association

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

RGD

NCBI chr 1:170,846,495...170,857,330
Ensembl chr 1:170,846,489...170,857,330

G

GNAS complex locus

disease_progression

DNA:polymorphism:393T>C (human)

RGD

NCBI chr 2:174,126,113...174,188,537
Ensembl chr 2:174,126,113...174,188,537

G

Harvey rat sarcoma virus oncogene

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

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

NCBI chr 7:140,770,839...140,773,938
Ensembl chr 7:140,769,018...140,773,918

G

intercellular adhesion molecule 1

severity

RGD

NCBI chr 9:20,927,236...20,940,110
Ensembl chr 9:20,927,281...20,940,113

G

interferon gamma

susceptibility

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

RGD

NCBI chr10:118,276,951...118,281,799
Ensembl chr10:118,276,951...118,281,797

G

interleukin 10

disease_progression
no_association

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

RGD

PMID:22945689 PMID:10638947 PMID:19573080 PMID:19573080

RGD:11041895, RGD:11049174, RGD:11049165, RGD:11049165

NCBI chr 1:130,947,459...130,952,707
Ensembl chr 1:130,947,582...130,952,711

G

interleukin 19

CTD Direct Evidence: marker/mechanism

NCBI chr 1:130,860,393...130,873,194
Ensembl chr 1:130,860,393...130,867,852

G

interleukin 1 alpha

RGD

NCBI chr 2:129,141,530...129,151,892
Ensembl chr 2:129,141,530...129,151,892

G

interleukin 1 beta

severity

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

RGD

PMID:18271063 PMID:10870116

RGD:11051967, RGD:11522755

NCBI chr 2:129,206,490...129,213,059
Ensembl chr 2:129,206,490...129,213,059

G

interleukin 1 receptor antagonist

protein:decreased expression:plasma:

RGD

NCBI chr 2:24,226,872...24,241,503
Ensembl chr 2:24,226,865...24,241,506

G

interleukin 6

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

CTD
RGD

PMID:18006695 PMID:10870116

NCBI chr 5:30,218,112...30,224,973
Ensembl chr 5:30,218,112...30,224,979

G

interferon regulatory factor 4

disease_progression

CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:18758461 PMID:12393648 PMID:12079517

RGD:11526160, RGD:11530024

NCBI chr13:30,933,191...30,950,965
Ensembl chr13:30,933,209...30,950,959

G

integrin alpha 4

CTD Direct Evidence: marker/mechanism

NCBI chr 2:79,084,767...79,163,458
Ensembl chr 2:79,085,770...79,163,467

G

Kirsten rat sarcoma viral oncogene homolog

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

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

NCBI chr 6:145,162,425...145,197,631
Ensembl chr 6:145,162,425...145,195,965

G

lymphoid enhancer binding factor 1

CTD Direct Evidence: marker/mechanism

NCBI chr 3:130,903,972...131,018,006
Ensembl chr 3:130,904,120...131,018,005

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 7:140,774,024...140,789,968
Ensembl chr 7:140,774,070...140,789,968

G

microRNA 143

CTD Direct Evidence: marker/mechanism

NCBI chr18:61,782,267...61,782,329
Ensembl chr18:61,782,267...61,782,329

G

microRNA 145a

CTD Direct Evidence: marker/mechanism

NCBI chr18:61,780,896...61,780,965
Ensembl chr18:61,780,896...61,780,965

G

membrane-spanning 4-domains, subfamily A, member 1

RGD

NCBI chr19:11,227,043...11,243,513
Ensembl chr19:11,227,039...11,243,605

G

methylenetetrahydrofolate reductase

CTD Direct Evidence: marker/mechanism

NCBI chr 4:148,123,534...148,144,019
Ensembl chr 4:148,123,534...148,144,008

G

myeloid differentiation primary response gene 88

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

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

NCBI chr 9:119,165,000...119,169,084
Ensembl chr 9:119,165,000...119,170,477

G

neuroblastoma ras oncogene

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

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

NCBI chr 3:102,965,643...102,975,230
Ensembl chr 3:102,965,601...102,975,230

G

purinergic receptor P2X, ligand-gated ion channel, 7

CTD Direct Evidence: marker/mechanism

NCBI chr 5:122,781,990...122,830,399
Ensembl chr 5:122,781,974...122,829,495

G

platelet/endothelial cell adhesion molecule 1

severity

protein:increased expression:B cell (human)

RGD

NCBI chr11:106,545,039...106,606,107
Ensembl chr11:106,545,043...106,641,454

G

phospholipase C, gamma 2

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: B-cell chronic lymphocytic leukemia

PMID:24869598 PMID:27542411 PMID:28492532

NCBI chr 8:118,225,014...118,361,881
Ensembl chr 8:118,225,030...118,361,881

G

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

CTD Direct Evidence: marker/mechanism

NCBI chr18:66,591,675...66,598,629
Ensembl chr18:66,591,604...66,598,636

G

polymerase (DNA directed), beta

CTD Direct Evidence: marker/mechanism

NCBI chr 8:23,118,135...23,143,482
Ensembl chr 8:23,118,142...23,143,451

G

protein phosphatase 2, regulatory subunit B', gamma

CTD Direct Evidence: marker/mechanism

NCBI chr12:110,413,532...110,549,509
Ensembl chr12:110,413,554...110,549,496

G

PRAME like, X-linked 1

protein:increased expression:mononuclear cell (human)

RGD

NCBI chr X:134,513,662...134,528,437
Ensembl chr X:134,513,751...134,528,454

G

protein kinase D2

CTD Direct Evidence: marker/mechanism

NCBI chr 7:16,576,827...16,604,386
Ensembl chr 7:16,576,827...16,604,389

G

prostaglandin-endoperoxide synthase 2

CTD Direct Evidence: marker/mechanism

NCBI chr 1:149,975,851...149,983,978
Ensembl chr 1:149,975,782...149,983,978

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 chr 5:121,268,596...121,329,460
Ensembl chr 5:121,268,596...121,329,460

G

glutaminyl-peptide cyclotransferase (glutaminyl cyclase)

CTD Direct Evidence: marker/mechanism

NCBI chr17:79,359,335...79,397,807
Ensembl chr17:79,359,335...79,397,807

G

RB transcriptional corepressor like 2

CTD Direct Evidence: marker/mechanism

NCBI chr 8:91,796,685...91,850,472
Ensembl chr 8:91,796,685...91,850,472

G

splicing factor 3b, subunit 1

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: B-cell chronic lymphocytic leukemia | ClinVar Annotator: match by term: Leukemia, B-cell, chronic

PMID:22158541 PMID:23634996 PMID:25741868 PMID:26619011

NCBI chr 1:55,024,328...55,066,660
Ensembl chr 1:55,024,328...55,066,640

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 chr19:5,323,949...5,345,485
Ensembl chr19:5,323,960...5,345,483

G

telomerase reverse transcriptase

disease_progression

RGD

NCBI chr13:73,775,030...73,797,962
Ensembl chr13:73,775,030...73,797,962

G

transferrin receptor

CTD Direct Evidence: marker/mechanism

NCBI chr16:32,427,714...32,451,612
Ensembl chr16:32,427,738...32,451,612

G

thrombomodulin

RGD

NCBI chr 2:148,246,391...148,250,108
Ensembl chr 2:148,246,386...148,250,108

G

tumor necrosis factor

disease_progression

protein:increased expression:bone marrow, blood, lymphocyte

RGD

PMID:12010662 PMID:22945689

RGD:10449463, RGD:11041895

NCBI chr17:35,418,343...35,420,983
Ensembl chr17:35,418,357...35,420,983

G

tumor necrosis factor receptor superfamily, member 10b

susceptibility

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

RGD

PMID:16217763 PMID:15531454

RGD:11038717, RGD:11038718

NCBI chr14:70,004,921...70,021,860
Ensembl chr14:70,004,921...70,021,860

G

tumor necrosis factor receptor superfamily, member 11a, NFKB activator

CTD Direct Evidence: marker/mechanism

NCBI chr 1:105,708,443...105,777,172
Ensembl chr 1:105,708,443...105,775,709

G

tumor necrosis factor (ligand) superfamily, member 11

CTD Direct Evidence: marker/mechanism

NCBI chr14:78,514,886...78,545,483
Ensembl chr14:78,514,885...78,545,483

G

tumor necrosis factor (ligand) superfamily, member 13

protein:increased expression:serum

RGD

NCBI chr11:69,573,403...69,576,380
Ensembl chr11:69,573,672...69,576,610

G

tumor necrosis factor (ligand) superfamily, member 8

CTD Direct Evidence: marker/mechanism

NCBI chr 4:63,749,439...63,779,745
Ensembl chr 4:63,749,545...63,779,584

G

topoisomerase (DNA) II binding protein 1

CTD Direct Evidence: marker/mechanism

NCBI chr 9:103,182,351...103,227,627
Ensembl chr 9:103,182,414...103,227,627

G

transformation related protein 53

disease_progression

DNA:deletion: :
ClinVar Annotator: match by term: B-cell chronic lymphocytic leukemia | ClinVar Annotator: match by term: Leukemia, B-cell, chronic
CTD Direct Evidence: marker/mechanism

ClinVar
CTD
RGD

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

NCBI chr11:69,471,174...69,482,699
Ensembl chr11:69,471,185...69,482,699

G

vitamin D (1,25-dihydroxyvitamin D3) receptor

CTD Direct Evidence: marker/mechanism

NCBI chr15:97,752,308...97,806,177
Ensembl chr15:97,752,306...97,808,511

G

exportin 1

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

NCBI chr11:23,205,768...23,248,250
Ensembl chr11:23,206,055...23,248,249

G

X-ray repair complementing defective repair in Chinese hamster cells 1

severity
no_association

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

RGD

PMID:19484764 PMID:19484764

RGD:11252204, RGD:11252204

NCBI chr 7:24,246,124...24,272,863
Ensembl chr 7:24,245,714...24,272,865

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 (Junior blood group)

susceptibility

DNA:SNP: :rs6857600(human)

RGD

NCBI chr 6:58,561,476...58,669,436
Ensembl chr 6:58,561,508...58,672,661

G

activation-induced cytidine deaminase

RGD

NCBI chr 6:122,530,768...122,541,139
Ensembl chr 6:122,530,760...122,541,139

G

BCL2-like 2

disease_progression

RGD

NCBI chr14:55,120,900...55,125,691
Ensembl chr14:55,120,834...55,125,691

G

B cell leukemia/lymphoma 6

diffuse large B-cell lymphoma

RGD

NCBI chr16:23,780,058...23,807,602
Ensembl chr16:23,783,802...23,807,602

G

bromodomain containing 2

RGD

NCBI chr17:34,330,993...34,341,581
Ensembl chr17:34,330,997...34,341,608

G

Bruton agammaglobulinemia tyrosine kinase

treatment

human cell in a mouse model

RGD

PMID:25662332 PMID:28348046

RGD:11040764, RGD:124713554

NCBI chr X:133,443,083...133,484,366
Ensembl chr X:133,443,085...133,484,319

G

chromobox 7

RGD

NCBI chr15:79,800,005...79,855,344
Ensembl chr15:79,800,008...79,855,320

G

CD40 antigen

RGD

NCBI chr 2:164,897,535...164,913,574
Ensembl chr 2:164,897,547...164,914,868

G

colony stimulating factor 2 (granulocyte-macrophage)

treatment

RGD

NCBI chr11:54,138,096...54,140,725
Ensembl chr11:54,138,097...54,140,493

G

colony stimulating factor 3 (granulocyte)

CTD Direct Evidence: therapeutic

NCBI chr11:98,591,287...98,594,457
Ensembl chr11:98,592,089...98,594,455

G

ELL associated factor 2

CTD Direct Evidence: marker/mechanism

NCBI chr16:36,613,246...36,695,275
Ensembl chr16:36,613,246...36,695,365

G

enhancer of zeste 2 polycomb repressive complex 2 subunit

severity
treatment

PMID:23982173 PMID:29456795

RGD:10755356, RGD:126781726

NCBI chr 6:47,507,208...47,613,843
Ensembl chr 6:47,507,073...47,572,275

G

interleukin 21 receptor

diffuse large B-cell lymphoma

RGD

NCBI chr 7:125,202,424...125,232,742
Ensembl chr 7:125,202,601...125,232,742

G

Janus kinase 3

CTD Direct Evidence: marker/mechanism

NCBI chr 8:72,129,027...72,143,221
Ensembl chr 8:72,128,940...72,143,219

G

K(lysine) acetyltransferase 5

severity

RGD

NCBI chr19:5,653,042...5,661,584
Ensembl chr19:5,653,042...5,660,265

G

lectin, galactose binding, soluble 1

protein:increased expression:primary tumor (rat)

RGD

NCBI chr15:78,810,925...78,814,665
Ensembl chr15:78,810,925...78,814,665

G

microRNA 143

CTD Direct Evidence: marker/mechanism

NCBI chr18:61,782,267...61,782,329
Ensembl chr18:61,782,267...61,782,329

G

microRNA 145a

CTD Direct Evidence: marker/mechanism

NCBI chr18:61,780,896...61,780,965
Ensembl chr18:61,780,896...61,780,965

G

neuroblastoma ras oncogene

CTD Direct Evidence: marker/mechanism

NCBI chr 3:102,965,643...102,975,230
Ensembl chr 3:102,965,601...102,975,230

G

prostaglandin-endoperoxide synthase 2

CTD Direct Evidence: marker/mechanism

NCBI chr 1:149,975,851...149,983,978
Ensembl chr 1:149,975,782...149,983,978

G

protein tyrosine phosphatase, non-receptor type 1

CTD Direct Evidence: marker/mechanism

NCBI chr 2:167,772,670...167,821,305
Ensembl chr 2:167,773,977...167,821,305

G

signal transducer and activator of transcription 5A

RGD

NCBI chr11:100,750,177...100,775,995
Ensembl chr11:100,750,177...100,775,995

G

tumor necrosis factor (ligand) superfamily, member 8

CTD Direct Evidence: marker/mechanism

NCBI chr 4:63,749,439...63,779,745
Ensembl chr 4:63,749,545...63,779,584

G

tumor necrosis factor (ligand) superfamily, member 9

RGD

NCBI chr17:57,412,113...57,414,757
Ensembl chr17:57,412,325...57,414,757

B-lymphoblastic leukemia/lymphoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

c-abl oncogene 1, non-receptor tyrosine kinase

treatment

RGD

NCBI chr 2:31,578,256...31,697,105
Ensembl chr 2:31,578,388...31,694,239

G

aryl-hydrocarbon receptor

CTD Direct Evidence: marker/mechanism

NCBI chr12:35,547,978...35,584,988
Ensembl chr12:35,547,973...35,585,037

G

aldo-keto reductase family 1, member C18

treatment

RGD

NCBI chr13:4,182,614...4,200,645
Ensembl chr13:4,182,614...4,200,653

G

activating transcription factor 7 interacting protein

CTD Direct Evidence: marker/mechanism

NCBI chr 6:136,495,787...136,587,848
Ensembl chr 6:136,483,165...136,587,860

G

BCL2-like 1

severity

RGD

NCBI chr 2:152,600,652...152,673,632
Ensembl chr 2:152,622,588...152,673,648

G

BCR activator of RhoGEF and GTPase

BCR/ABL fusion

RGD

NCBI chr10:74,896,384...75,020,753
Ensembl chr10:74,896,424...75,020,753

G

bromodomain containing 2

RGD

NCBI chr17:34,330,993...34,341,581
Ensembl chr17:34,330,997...34,341,608

G

cellular communication network factor 2

CTD Direct Evidence: marker/mechanism

NCBI chr10:24,471,340...24,474,581
Ensembl chr10:24,471,340...24,474,581

G

cyclin D1

mRNA:increased expression:B cell (mouse)

RGD

NCBI chr 7:144,483,668...144,493,568
Ensembl chr 7:144,483,668...144,493,662

G

cyclin dependent kinase inhibitor 2A

treatment
susceptibility

DNA:mutation:cds:c.442C>T,p.A148T,rs3731249 (human)

RGD

PMID:16618932 PMID:26104880 PMID:21622646

RGD:11251751, RGD:11057958, RGD:11251772

NCBI chr 4:89,192,710...89,212,856
Ensembl chr 4:89,192,708...89,212,890

G

cytokine receptor-like factor 2

CTD Direct Evidence: marker/mechanism

NCBI chr 5:109,702,575...109,707,301
Ensembl chr 5:109,702,575...109,706,859

G

cytochrome P450, family 3, subfamily a, polypeptide 13

treatment

DNA:polymorphisms: :

RGD

NCBI chr 5:137,891,195...137,923,872
Ensembl chr 5:137,891,194...137,919,881

G

double homeobox B-like 1

CTD Direct Evidence: marker/mechanism

NCBI chr14:25,979,011...25,990,590
Ensembl chr14:25,979,001...25,990,512

G

ets variant 6

CTD Direct Evidence: marker/mechanism

PMID:15217836 PMID:24413735 PMID:25807284

NCBI chr 6:134,012,663...134,247,121
Ensembl chr 6:134,012,663...134,247,121

G

coagulation factor XIII, A1 subunit

protein:increased expression:B lymphoblast:

RGD

NCBI chr13:37,051,150...37,234,220
Ensembl chr13:37,051,152...37,234,220

G

coagulation factor III

treatment

RGD

NCBI chr 3:121,517,186...121,528,701
Ensembl chr 3:121,517,186...121,528,697

G

fumarate hydratase 1

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

PMID:25741868 PMID:28492532

NCBI chr 1:175,428,944...175,453,201
Ensembl chr 1:175,427,940...175,453,201

G

FMS-like tyrosine kinase 3

mRNA,protein:increased expression:bone marrow:

RGD

NCBI chr 5:147,267,551...147,337,299
Ensembl chr 5:147,267,551...147,337,299

G

GATA binding protein 3

CTD Direct Evidence: marker/mechanism

NCBI chr 2:9,861,889...9,894,845
Ensembl chr 2:9,861,889...9,894,845

G

indoleamine 2,3-dioxygenase 1

CTD Direct Evidence: marker/mechanism

NCBI chr 8:25,074,148...25,086,987
Ensembl chr 8:25,074,152...25,087,025

G

IKAROS family zinc finger 1

disease_progression

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

CTD
RGD

PMID:24141364 PMID:22699455

NCBI chr11:11,634,970...11,722,930
Ensembl chr11:11,634,980...11,722,926

G

interleukin 5

RGD

NCBI chr11:53,611,621...53,615,930
Ensembl chr11:53,611,621...53,615,933

G

interferon regulatory factor 4

RGD

PMID:25006123 PMID:20585039 PMID:21818355

RGD:11526159, RGD:11530030, RGD:11530020

NCBI chr13:30,933,191...30,950,965
Ensembl chr13:30,933,209...30,950,959

G

interferon regulatory factor 8

RGD

NCBI chr 8:121,463,097...121,483,433
Ensembl chr 8:121,463,097...121,483,433

G

intestine specific homeobox

CTD Direct Evidence: marker/mechanism

NCBI chr 8:75,599,326...75,620,134
Ensembl chr 8:75,599,801...75,620,134

G

Wt1 promoter region

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

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

NCBI chr 2:104,956,361...104,957,127

G

MAX gene associated

CTD Direct Evidence: marker/mechanism

NCBI chr 2:119,702,974...119,800,610
Ensembl chr 2:119,727,709...119,800,062

G

myeloblastosis oncogene

disease_progression

mRNA:splice variants:cds:

RGD

NCBI chr10:21,000,829...21,036,883
Ensembl chr10:21,000,834...21,036,883

G

myelocytomatosis oncogene

RGD

NCBI chr15:61,857,190...61,862,210
Ensembl chr15:61,857,240...61,862,223

G

paired box 5

CTD Direct Evidence: marker/mechanism

PMID:24013638 PMID:30643249

NCBI chr 4:44,524,748...44,710,694
Ensembl chr 4:44,524,757...44,710,487

G

platelet derived growth factor receptor, alpha polypeptide

treatment

RGD

NCBI chr 5:75,311,988...75,358,867
Ensembl chr 5:75,312,953...75,358,876

G

RB transcriptional corepressor 1

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

PMID:25741868 PMID:28492532

NCBI chr14:73,430,298...73,563,446
Ensembl chr14:73,421,113...73,563,262

G

runt related transcription factor 1

onset