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 (1068) Cell Lines (7)

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

NCBI chr 2:76,339,452...76,401,974
Ensembl chr 2:76,339,470...76,401,965

G

ring finger protein 20

disease_progression

NCBI chr 1:243,225,711...243,254,465
Ensembl chr 1:243,225,924...243,254,446

acute leukemia

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ERCC excision repair 2, TFIIH core complex helicase subunit

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 6:51,734,318...51,757,508
Ensembl chr 6:51,734,320...51,757,553

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 (MDR/TAP), member 1

susceptibility

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

NCBI chr 9:93,049,955...93,146,469

G

ATP binding cassette subfamily C member 2

treatment

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

PMID:24404132 PMID:25007187

RGD:11080959 RGD:11080979

NCBI chr14:110,955,698...111,038,898
Ensembl chr14:110,955,633...111,037,537

G

ATP binding cassette subfamily G member 2A

disease_progression

mRNA:increased expression:mononuclear cell:

PMID:12100141 PMID:15521915

RGD:11081076 RGD:11081143

NCBI chr 8:130,853,414...130,945,388
Ensembl chr 8:130,889,684...130,945,393

G

ABL proto-oncogene 1, non-receptor tyrosine kinase

CTD Direct Evidence: marker/mechanism

PMID:11984797 PMID:21898527

NCBI chr 1:270,761,641...270,906,708
Ensembl chr 1:270,761,668...270,906,708

G

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

susceptibility

NCBI chr 1:272,912,239...272,935,316

G

activation induced cytidine deaminase

treatment

NCBI chr 5:62,777,236...62,787,342
Ensembl chr 5:62,777,352...62,787,369

G

AT-rich interaction domain 5B

CTD Direct Evidence: marker/mechanism

PMID:19684603 PMID:19684604

NCBI chr14:65,408,603...65,598,485
Ensembl chr14:65,408,598...65,598,485

G

aryl hydrocarbon receptor nuclear translocator

CTD Direct Evidence: marker/mechanism

NCBI chr 4:98,333,431...98,390,012
Ensembl chr 4:98,333,459...98,389,457

G

BCL2 associated X, apoptosis regulator

NCBI chr 6:54,222,341...54,228,150
Ensembl chr 6:54,222,336...54,228,140

G

BCL2 apoptosis regulator

severity

mRNA:increased expression:bone marrow (human)

NCBI chr 1:158,337,403...158,518,214
Ensembl chr 1:158,337,522...158,518,879

G

BCL2 like 1

treatment

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

PMID:12469194 PMID:19020783

RGD:11353852 RGD:11353866

NCBI chr17:35,366,139...35,415,798
Ensembl chr17:35,366,143...35,414,694

G

BCR activator of RhoGEF and GTPase

NCBI chr14:49,208,662...49,322,109
Ensembl chr14:49,208,762...49,322,103

G

caspase 8

CTD Direct Evidence: therapeutic

NCBI chr15:104,923,659...104,948,470
Ensembl chr15:104,923,953...104,948,468

G

calpastatin

protein:increased expresssion:B cell

NCBI chr 2:103,255,738...103,378,623
Ensembl chr 2:103,255,750...103,378,623

G

cyclin D1

mRNA:increased expression:bone marrow (human)

NCBI chr 2:3,621,242...3,633,380
Ensembl chr 2:3,621,246...3,633,296

G

CD40 ligand

NCBI chr X:111,778,666...111,788,901
Ensembl chr X:111,778,493...111,789,709

G

CD46 molecule, complement regulatory protein

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

NCBI chr 9:135,025,439...135,078,910

G

CD79b molecule

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

NCBI chr12:15,052,966...15,056,441
Ensembl chr12:15,053,007...15,056,438

G

CD86 molecule

severity

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

NCBI chr13:138,427,573...138,504,307
Ensembl chr13:138,427,533...138,504,310

G

cyclin dependent kinase 6

CTD Direct Evidence: marker/mechanism

NCBI chr 9:72,510,858...72,765,631
Ensembl chr 9:72,518,101...72,764,129

G

cyclin dependent kinase inhibitor 2A

no_association
disease_progression
susceptibility

DNA:deletion: :
ClinVar Annotator: match by term: Acute lymphocytic leukemia | ClinVar Annotator: match by term: Acute lymphoid leukemia
DNA:missense mutations:cds:

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

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

NCBI chr 1:200,774,496...200,799,149
Ensembl chr 1:200,792,469...200,798,854

G

cyclin dependent kinase inhibitor 2B

ClinVar Annotator: match by term: Acute lymphoid leukemia

NCBI chr 1:200,666,250...200,770,880
Ensembl chr 1:200,761,004...200,766,056

G

CCAAT enhancer binding protein epsilon

CTD Direct Evidence: marker/mechanism

NCBI chr 7:75,926,652...75,929,949
Ensembl chr 7:75,927,662...75,929,769

G

complement factor B

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

NCBI chr 7:24,034,077...24,040,523
Ensembl chr 7:24,033,740...24,041,179

G

CREB binding protein

disease_progression

DNA:mutations:multiple

NCBI chr 3:38,388,366...38,530,243
Ensembl chr 3:38,388,547...38,530,224

G

colony stimulating factor 3

treatment

NCBI chr12:22,333,445...22,335,949
Ensembl chr12:22,333,449...22,338,753

G

chondroitin sulfate proteoglycan 4

severity

NCBI chr 7:57,949,182...57,988,602
Ensembl chr 7:57,949,455...57,988,335

G

cytochrome b-245 alpha chain

mRNA:increased expression:peripheral blood mononuclear cell:

NCBI chr 6:1,015,212...1,021,422
Ensembl chr 6:1,015,162...1,021,420

G

cytochrome P450 family 1 subfamily A member 1

susceptibility
no_association

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

PMID:16676594 PMID:22964275 PMID:23725389

RGD:11352714 RGD:11352725 RGD:11352728

NCBI chr 7:58,802,887...58,809,155
Ensembl chr 7:58,802,887...58,809,775

G

cytochrome P450 family 1 subfamily A member 2

CTD Direct Evidence: marker/mechanism

NCBI chr 7:58,779,529...58,786,155
Ensembl chr 7:58,779,475...58,786,100

G

cytochrome P450 family 1 subfamily B member 1

CTD Direct Evidence: marker/mechanism

NCBI chr 3:102,195,743...102,205,687
Ensembl chr 3:102,195,741...102,205,683

G

cytochrome P450 family 2 subfamily D member 6

susceptibility

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

PMID:11037802 PMID:19593802

RGD:11252111 RGD:11352820

NCBI chr 5:6,539,021...6,543,643
Ensembl chr 5:6,538,907...6,543,642

G

cytochrome P450 family 2 subfamily E member 1

CTD Direct Evidence: marker/mechanism

NCBI chr14:141,690,737...141,703,078
Ensembl chr14:141,690,426...141,736,817

G

cytochrome P450 family 3 subfamily A member 22

susceptibility
disease_progression

DNA:polymorphism: :

PMID:19650988 PMID:22215203

RGD:11353796 RGD:11353805

NCBI chr 3:6,617,256...6,665,179
Ensembl chr 3:6,615,343...6,822,817

G

dihydrofolate reductase

disease_progression

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

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

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

NCBI chr 2:89,230,660...89,255,830

G

DNA methyltransferase 3 alpha

treatment

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

NCBI chr 3:113,501,972...113,609,148
Ensembl chr 3:113,528,926...113,603,087

G

DNA nucleotidylexotransferase

protein:increased activity:peripheral blood,bone marrow:

NCBI chr14:107,750,796...107,784,626
Ensembl chr14:107,750,796...107,784,617

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)

NCBI chr 4:119,931,471...120,712,461
Ensembl chr 4:119,931,414...120,712,459

G

euchromatic histone lysine methyltransferase 1

CTD Direct Evidence: marker/mechanism

G

euchromatic histone lysine methyltransferase 2

CTD Direct Evidence: marker/mechanism

NCBI chr 7:23,977,683...23,992,673
Ensembl chr 7:23,977,683...23,993,478

G

endoglin

disease_progression

NCBI chr 1:268,309,379...268,343,861
Ensembl chr 1:268,309,400...268,343,783

G

epoxide hydrolase 1

susceptibility
no_association

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

PMID:19593802 PMID:21983886 PMID:22200898 PMID:22930568

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

NCBI chr10:13,757,489...13,773,071
Ensembl chr10:13,751,881...13,773,072

G

ERCC excision repair 1, endonuclease non-catalytic subunit

susceptibility

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

PMID:16435384 PMID:16723154

RGD:11252160 RGD:11340204

NCBI chr 6:51,783,537...51,808,898
Ensembl chr 6:51,783,478...51,798,984

G

ERCC excision repair 2, TFIIH core complex helicase subunit

no_association

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

PMID:19101034 PMID:21987080

RGD:11252192 RGD:11340201

NCBI chr 6:51,734,318...51,757,508
Ensembl chr 6:51,734,320...51,757,553

G

ETS transcription factor ERG

ClinVar Annotator: match by term: Acute lymphoid leukemia

NCBI chr13:201,999,237...202,302,572
Ensembl chr13:202,000,995...202,301,368

G

ETS variant transcription factor 6

ClinVar Annotator: match by term: Acute lymphoid leukemia

NCBI chr 5:60,523,530...60,776,792
Ensembl chr 5:60,523,433...60,776,750

G

enhancer of zeste 2 polycomb repressive complex 2 subunit

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

NCBI chr 9:109,384,976...109,450,943
Ensembl chr 9:109,385,015...109,450,941

G

coagulation factor III, tissue factor

NCBI chr 4:122,827,018...122,837,673
Ensembl chr 4:122,826,644...122,837,666

G

Fas cell surface death receptor

disease_progression

protein:increased expression:CD34+ bone marrow cell

PMID:9711907 PMID:10500800

RGD:11049148 RGD:11049157

NCBI chr14:100,927,305...100,954,781
Ensembl chr14:100,927,089...100,956,716

G

fibrinogen alpha chain

protein:increased expression:serum (human)

NCBI chr 8:74,574,870...74,584,202
Ensembl chr 8:74,574,882...74,584,202

G

fms related receptor tyrosine kinase 3

ClinVar Annotator: match by term: Acute lymphoid leukemia

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

NCBI chr11:5,370,475...5,455,439
Ensembl chr11:5,370,496...5,455,358

G

folylpolyglutamate synthase

CTD Direct Evidence: marker/mechanism

NCBI chr 1:268,281,298...268,309,397
Ensembl chr 1:268,287,765...268,309,398

G

GATA binding protein 3

CTD Direct Evidence: marker/mechanism

NCBI chr10:63,367,684...63,397,977
Ensembl chr10:63,367,663...63,388,859

G

growth factor independent 1B transcriptional repressor

mRNA:increased expression:blood:

NCBI chr 1:272,701,386...272,715,551
Ensembl chr 1:272,702,184...272,715,539

G

G protein subunit beta 1

ClinVar Annotator: match by term: Acute lymphoblastic leukemia | ClinVar Annotator: match by term: Acute lymphoid leukemia | ClinVar Annotator: match by term: Lymphoblastic leukemia

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

NCBI chr 6:63,867,155...63,957,514
Ensembl chr 6:63,867,158...63,952,505

G

glucose-6-phosphate isomerase

NCBI chr 6:44,038,374...44,069,331
Ensembl chr 6:44,038,357...44,069,328

G

glutathione peroxidase 1

treatment

PMID:17317918 PMID:24698347

RGD:11352774 RGD:11352812

NCBI chr13:31,916,269...31,917,337
Ensembl chr13:31,916,246...31,917,433

G

glutathione-disulfide reductase

NCBI chr15:54,382,564...54,433,989
Ensembl chr15:54,382,567...54,433,984

G

H1.2 linker histone, cluster member

susceptibility

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

NCBI chr 7:20,743,716...20,744,356
Ensembl chr 7:20,743,716...20,744,356

G

HCK proto-oncogene, Src family tyrosine kinase

CTD Direct Evidence: marker/mechanism

NCBI chr17:35,708,549...35,751,590
Ensembl chr17:35,709,349...35,751,582

G

histone deacetylase 1

disease_progression

mRNA:increased expression:bone marrow,blood:

NCBI chr 6:88,749,611...88,785,220
Ensembl chr 6:88,749,634...88,785,411

G

histone deacetylase 2

disease_progression

mRNA:increased expression:bone marrow,blood:

NCBI chr 1:79,867,713...79,901,597
Ensembl chr 1:79,863,094...79,901,585

G

histone deacetylase 4

treatment

NCBI chr15:138,378,237...138,657,266
Ensembl chr15:138,381,635...138,614,301

G

homeostatic iron regulator

no_association

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

PMID:10627122 PMID:17107905

RGD:10755557 RGD:10755558

NCBI chr 7:20,758,604...20,767,004
Ensembl chr 7:20,758,741...20,767,000

G

hexokinase 1

protein:decreased activity:platelet

NCBI chr14:72,383,328...72,460,927
Ensembl chr14:72,351,246...72,460,924

G

HLF transcription factor, PAR bZIP family member

CTD Direct Evidence: marker/mechanism

NCBI chr12:31,589,337...31,643,595
Ensembl chr12:31,589,337...31,643,594

G

isocitrate dehydrogenase (NADP(+)) 1

CTD Direct Evidence: marker/mechanism

NCBI chr15:111,341,153...111,362,330
Ensembl chr15:111,341,153...111,362,296

G

interferon gamma

susceptibility

DNA:SNP: :rs2069727(human)

NCBI chr 5:32,477,906...32,482,670
Ensembl chr 5:32,477,906...32,482,670

G

IKAROS family zinc finger 1

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

PMID:25741868 PMID:27993330 PMID:28492532

NCBI chr 9:136,372,202...136,464,942
Ensembl chr 9:136,372,725...136,464,940

G

IKAROS family zinc finger 2

CTD Direct Evidence: marker/mechanism

NCBI chr15:115,512,160...115,677,503
Ensembl chr15:115,512,179...115,677,374

G

IKAROS family zinc finger 3

CTD Direct Evidence: marker/mechanism

NCBI chr12:22,466,386...22,562,320
Ensembl chr12:22,466,414...22,562,312

G

interleukin 10

treatment

protein:decreased expression:blood

PMID:15860861 PMID:21653647

RGD:11049158 RGD:11049169

NCBI chr 9:67,400,727...67,405,941
Ensembl chr 9:67,400,728...67,405,378

G

interferon regulatory factor 4

DNA:SNP:intron:rs12203592 (human)

NCBI chr 7:133,358...149,609
Ensembl chr 7:133,371...149,609

G

inosine triphosphatase

treatment
no_association

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

NCBI chr17:32,458,351...32,474,827
Ensembl chr17:32,455,459...32,474,784

G

lysine demethylase 2B

mRNA:increased expression:bone marrow (human)

NCBI chr14:31,057,121...31,203,093
Ensembl chr14:31,165,950...31,203,091

G

lysine demethylase 3B

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

NCBI chr 2:140,346,145...140,418,556
Ensembl chr 2:140,346,223...140,418,527

G

lysine demethylase 6A

severity

DNA:mutations:cds:multiple (human)

NCBI chr X:39,953,764...40,154,197
Ensembl chr X:39,953,814...40,154,029

G

lysine methyltransferase 2A

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

PMID:24736461 PMID:25730765

NCBI chr 9:45,743,566...45,828,559
Ensembl chr 9:45,743,397...45,824,884

G

KRAS proto-oncogene, GTPase

disease_progression

PMID:17910045 PMID:25917266

RGD:11060148 RGD:11060149

NCBI chr 5:48,508,774...48,546,260
Ensembl chr 5:48,508,811...48,549,358

G

LIM domain only 2

OMIM:247640 | OMIM:613065

NCBI chr 2:27,033,924...27,055,457
Ensembl chr 2:27,044,763...27,055,453

G

glutathione S-transferase P-like

no_association
disease_progression
susceptibility

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

PMID:10666194 PMID:15738600 PMID:23979883

RGD:10450829 RGD:10755321 RGD:10755417

NCBI chr 2:5,005,498...5,009,247

G

cytokine receptor-like factor 2

CTD Direct Evidence: marker/mechanism

NCBI chr Y:4,965,886...4,992,529

G

MEFV innate immunity regulator, pyrin

susceptibility

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

NCBI chr 3:38,934,573...38,948,609

G

methylenetetrahydrofolate reductase

treatment
disease_progression

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

PMID:16706930 PMID:19923983 PMID:21644011

RGD:10449398 RGD:10449407

NCBI chr 6:71,863,637...71,882,118
Ensembl chr 6:71,863,637...71,881,820

G

5-methyltetrahydrofolate-homocysteine methyltransferase

disease_progression
no_association
susceptibility

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

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

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

NCBI chr14:54,546,978...54,652,780
Ensembl chr14:54,546,978...54,652,763

G

5-methyltetrahydrofolate-homocysteine methyltransferase reductase

susceptibility

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

PMID:17136115 PMID:23940529

RGD:11531133 RGD:11531135

NCBI chr16:74,245,214...74,270,828
Ensembl chr16:74,245,228...74,270,783

G

MYC proto-oncogene, bHLH transcription factor

disease_progression

NCBI chr 4:12,455,141...12,460,360
Ensembl chr 4:12,455,122...12,461,078

G

nibrin

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

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

NCBI chr 4:46,787,664...46,854,331
Ensembl chr 4:46,787,691...46,874,603

G

nitric oxide synthase 3

susceptibility
disease_progression

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

PMID:20510681 PMID:23922896

RGD:11533639 RGD:11533646

NCBI chr18:6,209,218...6,228,912
Ensembl chr18:6,209,158...6,228,943

G

notch receptor 3

OMIM:247640 | OMIM:613065

NCBI chr 2:62,364,507...62,402,348
Ensembl chr 2:62,364,501...62,402,344

G

NAD(P)H quinone dehydrogenase 1

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

PMID:11774269 PMID:17332311 PMID:18444911

RGD:10769347 RGD:10769359

NCBI chr 6:17,292,962...17,302,593
Ensembl chr 6:17,292,770...17,302,590

G

NRAS proto-oncogene, GTPase

disease_progression

DNA:missense mutation:cds:

NCBI chr 4:105,845,913...105,853,769
Ensembl chr 4:105,845,872...105,858,227

G

nuclear receptor binding SET domain protein 2

CTD Direct Evidence: therapeutic

NCBI chr 8:938,832...1,018,032
Ensembl chr 8:964,893...1,018,028

G

5'-nucleotidase, cytosolic II

CTD Direct Evidence: marker/mechanism

NCBI chr14:114,062,451...114,167,460
Ensembl chr14:114,062,459...114,145,109

G

nucleoporin 214

NCBI chr 1:271,103,838...271,210,292
Ensembl chr 1:271,104,033...271,210,288

G

P2Y receptor family member 8

CTD Direct Evidence: marker/mechanism

G

phosphoprotein membrane anchor with glycosphingolipid microdomains 1

CTD Direct Evidence: marker/mechanism

NCBI chr 4:55,450,824...55,619,226
Ensembl chr 4:55,506,069...55,616,111

G

paired box 5

susceptibility

ClinVar Annotator: match by term: Acute lymphoid leukemia | ClinVar Annotator: match by term: Leukemia, acute lymphoblastic, susceptibility to, 3

PMID:24013638 PMID:24728327 PMID:25741868 PMID:27993330 PMID:28492532 More...

NCBI chr 1:237,574,938...237,785,454
Ensembl chr 1:237,575,061...237,785,413

G

paraoxonase 1

susceptibility

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

NCBI chr 9:74,943,646...74,974,720
Ensembl chr 9:74,926,048...74,974,723

G

PRAME nuclear receptor transcriptional regulator

severity

mRNA:increased expression:blood (human)

NCBI chr14:48,901,097...48,906,855
Ensembl chr14:48,899,343...48,911,231

G

PR/SET domain 14

CTD Direct Evidence: marker/mechanism

NCBI chr 4:65,273,988...65,295,362
Ensembl chr 4:65,271,315...65,295,178

G

phosphatase and tensin homolog

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

NCBI chr14:99,929,590...100,021,619

G

RB transcriptional corepressor 1

CTD Direct Evidence: marker/mechanism

NCBI chr11:19,186,754...19,317,642
Ensembl chr11:19,186,761...19,317,690

G

RUNX family transcription factor 1

CTD Direct Evidence: marker/mechanism

NCBI chr13:198,371,835...198,635,648
Ensembl chr13:198,371,837...198,638,189

G

solute carrier family 19 member 1

CTD Direct Evidence: marker/mechanism

NCBI chr13:207,986,094...208,007,855
Ensembl chr13:207,986,098...208,007,675

G

small nuclear ribonucleoprotein polypeptide E

severity

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

NCBI chr 9:64,560,544...64,567,007
Ensembl chr 9:64,560,523...64,567,007

G

TAL bHLH transcription factor 1, erythroid differentiation factor

NCBI chr 6:164,282,242...164,297,636
Ensembl chr 6:164,283,366...164,295,290

G

TAL bHLH transcription factor 2

NCBI chr 1:246,932,975...246,944,722
Ensembl chr 1:246,933,241...246,942,163

G

transcription factor 3

CTD Direct Evidence: marker/mechanism

NCBI chr 2:76,859,079...76,906,275
Ensembl chr 2:76,859,089...76,898,351

G

transcobalamin 2

protein:altered activity:plasma:

NCBI chr14:47,496,245...47,515,966
Ensembl chr14:47,502,715...47,515,965

G

telomerase reverse transcriptase

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

PMID:15621763 PMID:23066086

RGD:11038654 RGD:11038667

NCBI chr16:79,258,591...79,276,421
Ensembl chr16:79,258,591...79,276,421

G

transmembrane 9 superfamily member 2

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

NCBI chr11:68,407,834...68,469,956
Ensembl chr11:68,404,975...68,469,953

G

tumor protein p53

CTD Direct Evidence: marker/mechanism

NCBI chr12:52,939,643...52,953,786
Ensembl chr12:52,939,644...52,953,818

G

thiopurine S-methyltransferase

no_association
treatment

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
DNA:SNPs: :multiple

PMID:17164697 PMID:22009189 PMID:24499706

RGD:10766474 RGD:11038720 RGD:11038723

NCBI chr 7:13,821,656...13,846,107
Ensembl chr 7:13,820,866...13,846,012

G

tetratricopeptide repeat domain 12

DNA:hypermethylation:5'end:CpG dinucleotide

NCBI chr 9:40,988,881...41,032,928
Ensembl chr 9:40,988,920...41,046,900

G

thymidylate synthetase

treatment

DNA:repeats: : rs347430033(human)

NCBI chr 6:105,642,730...105,660,279
Ensembl chr 6:105,642,381...105,660,578

G

V-set pre-B cell surrogate light chain 1

CTD Direct Evidence: marker/mechanism

NCBI chr14:49,972,058...49,972,768
Ensembl chr14:49,970,340...49,972,741

G

X-ray repair cross complementing 1

no_association
susceptibility

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

PMID:19101034 PMID:21983886

RGD:11252110 RGD:11252192

NCBI chr 6:50,403,691...50,425,730
Ensembl chr 6:50,403,689...50,425,729

Acute Lymphoblastic Leukemia, with Lymphomatous Features

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ABL proto-oncogene 1, non-receptor tyrosine kinase

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

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

NCBI chr 1:270,761,641...270,906,708
Ensembl chr 1:270,761,668...270,906,708

G

cytochrome P450 family 2 subfamily B member 6B

susceptibility

DNA:polymorphism:G15631T

NCBI chr 6:49,158,175...49,173,872
Ensembl chr 6:49,110,812...49,178,334

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 chr15:48,053,895...48,106,634
Ensembl chr15:48,053,340...48,106,724

G

interleukin 7 receptor

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

PMID:22897847 PMID:22955920

NCBI chr16:21,300,141...21,330,156
Ensembl chr16:21,300,111...21,329,585

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 chr 1:216,792,785...216,820,197
Ensembl chr 1:216,792,787...216,823,479

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 6:147,320,288...147,567,188
Ensembl chr 6:147,429,056...147,567,182

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 chr 1:216,849,744...217,002,310
Ensembl chr 1:216,848,689...217,002,148

G

Janus kinase 3

ClinVar Annotator: match by term: LYMPHOMATOUS ALL

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

NCBI chr 2:59,905,901...59,926,504
Ensembl chr 2:59,905,919...59,926,495

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 Y:4,965,886...4,992,529

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 chr17:48,039,627...48,054,335
Ensembl chr17:48,039,628...48,054,335

G

adenosine deaminase

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

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

NCBI chr17:47,044,492...47,072,232
Ensembl chr17:47,044,497...47,072,245

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 chr17:47,131,236...47,146,455
Ensembl chr17:47,131,501...47,146,449

G

CD247 molecule

ClinVar Annotator: match by term: Bubble boy disease

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

NCBI chr 4:83,494,266...83,586,887
Ensembl chr 4:83,494,395...83,586,647

G

CD3 gamma subunit of T-cell receptor complex

ClinVar Annotator: match by term: Bubble boy disease

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

NCBI chr 9:45,645,243...45,656,779
Ensembl chr 9:45,645,364...45,704,745

G

CD40 molecule

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

PMID:26255240 PMID:26376800 PMID:28492532

NCBI chr17:48,286,116...48,298,188
Ensembl chr17:48,286,029...48,298,528

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 chr17:48,339,683...48,471,705
Ensembl chr17:48,339,694...48,413,799

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 chr17:48,082,480...48,089,971
Ensembl chr17:48,082,448...48,089,971

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 chr17:47,686,220...47,729,663
Ensembl chr17:47,725,132...47,729,668

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 chr17:47,994,658...48,017,568
Ensembl chr17:47,994,656...48,017,560

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 chr17:48,526,692...48,567,665
Ensembl chr17:48,526,700...48,567,657

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 chr17:46,742,662...46,745,898
Ensembl chr17:46,739,973...46,745,982

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 chr17:46,709,260...46,733,275
Ensembl chr17:46,709,393...46,737,560

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 chr17:46,296,577...46,297,461
Ensembl chr17:46,296,577...46,297,461

G

hepatocyte nuclear factor 4 alpha

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

PMID:26255240 PMID:26376800 PMID:28492532

NCBI chr17:46,783,772...46,847,505
Ensembl chr17:46,783,777...46,847,500

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 chr17:46,209,956...46,246,696
Ensembl chr17:46,210,150...46,246,674

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 2:59,905,901...59,926,504
Ensembl chr 2:59,905,919...59,926,495

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 chr17:46,590,302...46,665,326

G

potassium two pore domain channel subfamily K member 15

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

PMID:26255240 PMID:26376800 PMID:28492532

NCBI chr17:47,161,488...47,167,193
Ensembl chr17:47,160,774...47,166,382

G

potassium voltage-gated channel modifier subfamily S member 1

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

PMID:26255240 PMID:26376800 PMID:28492532

NCBI chr17:47,483,943...47,491,071
Ensembl chr17:47,483,947...47,492,567

G

antileukoproteinase

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

PMID:26255240 PMID:26376800 PMID:28492532

NCBI chr17:47,579,081...47,581,861

G

colostrum trypsin inhibitor-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 chr17:47,755,665...47,759,724

G

WAP four-disulfide core domain protein 10A

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

PMID:26255240 PMID:26376800 PMID:28492532

NCBI chr17:47,899,971...47,901,404
Ensembl chr17:47,888,613...47,901,430

G

zinc finger protein 33B

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

PMID:26255240 PMID:26376800 PMID:28492532

NCBI chr14:60,977,687...61,030,142

G

WAP four-disulfide core domain protein 5-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 chr17:47,499,800...47,506,298
Ensembl chr17:47,499,935...47,506,306

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 chr17:47,617,559...47,631,195
Ensembl chr17:47,617,620...47,630,458

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 chr17:48,179,690...48,186,782
Ensembl chr17:48,179,671...48,186,788

G

MYB proto-oncogene like 2

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

PMID:26255240 PMID:26376800 PMID:28492532

NCBI chr17:46,256,245...46,287,929
Ensembl chr17:46,256,257...46,287,927

G

myosin heavy chain 7

ClinVar Annotator: match by term: Bubble boy disease

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

NCBI chr 7:75,650,841...75,672,908
Ensembl chr 7:75,648,442...75,673,225

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 chr17:48,231,490...48,263,956
Ensembl chr17:48,231,497...48,263,944

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 chr17:48,080,035...48,083,176
Ensembl chr17:48,080,048...48,084,027

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 chr17:48,703,937...48,711,690
Ensembl chr17:48,703,941...48,711,144

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 chr17:46,673,560...46,686,144
Ensembl chr17:46,673,562...46,686,082

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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 chr17:47,321,259...47,351,905
Ensembl chr17:47,321,264...47,350,556

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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 chr17:48,120,263...48,132,003
Ensembl chr17:48,120,599...48,132,620

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peptidase inhibitor 3

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

PMID:26255240 PMID:26376800 PMID:28492532

NCBI chr17:47,522,402...47,524,451

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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 chr17:47,735,339...47,750,052
Ensembl chr17:47,735,088...47,750,195

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cAMP-dependent protein kinase inhibitor gamma

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

PMID:26255240 PMID:26376800 PMID:28492532

NCBI chr17:46,933,418...47,044,044
Ensembl chr17:47,008,035...47,044,049

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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 chr17:48,089,789...48,101,604
Ensembl chr17:48,089,785...48,101,515

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pancreatic trypsin 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 chr17:47,773,060...47,780,746
Ensembl chr17:47,773,060...47,779,703

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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 chr17:46,765,639...46,778,110
Ensembl chr17:46,766,401...46,777,329

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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 2:24,565,447...24,573,853
Ensembl chr 2:24,561,156...24,573,851

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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 chr17:47,631,432...47,642,169
Ensembl chr17:47,628,313...47,641,459

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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 chr17:47,167,302...47,235,237
Ensembl chr17:47,167,305...47,235,386

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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 chr17:47,650,387...47,670,499

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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 chr17:46,904,841...46,924,842
Ensembl chr17:46,895,402...46,924,792

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 chr17:48,192,072...48,230,674
Ensembl chr17:48,192,075...48,230,661

G

solute carrier family 13 member 3

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

PMID:26255240 PMID:26376800 PMID:28492532

NCBI chr17:48,714,180...48,792,280
Ensembl chr17:48,714,183...48,792,141

G

solute carrier family 2 member 10

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

PMID:26255240 PMID:26376800 PMID:28492532

NCBI chr17:48,824,054...48,842,811
Ensembl chr17:48,824,414...48,843,201

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 chr17:48,512,442...48,525,161
Ensembl chr17:48,512,803...48,525,143

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 chr17:47,595,804...47,598,364
Ensembl chr17:47,595,803...47,598,387

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 chr17:48,033,608...48,039,633
Ensembl chr17:48,033,717...48,040,522

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 chr17:48,078,319...48,079,892
Ensembl chr17:48,077,667...48,079,619

G

serine peptidase inhibitor, Kunitz type 4

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

PMID:26255240 PMID:26376800 PMID:28492532

NCBI chr17:47,960,786...47,963,417

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 chr17:47,387,594...47,475,705
Ensembl chr17:47,387,600...47,475,718

G

SYS1 golgi trafficking protein

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

PMID:26255240 PMID:26376800 PMID:28492532

NCBI chr17:47,686,184...47,694,045
Ensembl chr17:47,686,258...47,694,034

G

troponin C2, fast skeletal type

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

PMID:26255240 PMID:26376800 PMID:28492532

NCBI chr17:48,025,621...48,026,762
Ensembl chr17:48,024,687...48,028,651

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 chr17:47,352,144...47,376,571
Ensembl chr17:47,352,160...47,376,503

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 chr17:46,433,005...46,577,076
Ensembl chr17:46,433,025...46,577,072

G

TP53 regulating kinase

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

PMID:26255240 PMID:26376800 PMID:28492532

NCBI chr17:48,814,402...48,817,984
Ensembl chr17:48,814,703...48,817,824

G

TP53 target 5

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

PMID:26255240 PMID:26376800 PMID:28492532

NCBI chr17:47,699,323...47,705,974
Ensembl chr17:47,699,270...47,703,212

G

alpha tocopherol transfer protein like

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

PMID:26255240 PMID:26376800 PMID:28492532

NCBI chr17:46,884,881...46,906,827
Ensembl chr17:46,884,977...46,902,359

G

ubiquitin conjugating enzyme E2 C

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

PMID:26255240 PMID:26376800 PMID:28492532

NCBI chr17:48,018,403...48,021,542
Ensembl chr17:48,018,400...48,021,534

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 chr17:47,907,017...47,914,586
Ensembl chr17:47,909,744...47,915,395

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 chr17:47,916,541...47,921,851

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 chr17:47,816,452...47,824,087
Ensembl chr17:47,816,452...47,824,087

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 chr17:47,976,078...47,994,744

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 chr17:47,863,302...47,877,267
Ensembl chr17:47,862,615...47,876,464

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 chr17:47,891,173...47,898,219
Ensembl chr17:47,891,320...47,894,220

G

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

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

PMID:26255240 PMID:26376800 PMID:28492532

NCBI chr17:47,298,020...47,317,826
Ensembl chr17:47,298,044...47,319,285

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 chr17:48,132,531...48,153,251
Ensembl chr17:48,132,404...48,153,181

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 chr17:48,073,236...48,078,314
Ensembl chr17:48,074,402...48,077,702

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 chr17:48,054,479...48,073,109
Ensembl chr17:48,054,482...48,073,095

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 chr12:3,747,276...3,755,214
Ensembl chr12:3,747,279...3,755,215

G

bone morphogenetic protein 6

CTD Direct Evidence: marker/mechanism

NCBI chr 7:5,058,817...5,208,868
Ensembl chr 7:5,058,817...5,210,270

G

caspase recruitment domain family member 11

CTD Direct Evidence: marker/mechanism

NCBI chr 3:2,145,178...2,266,377
Ensembl chr 3:2,145,178...2,266,355

G

C-C motif chemokine receptor 4

CTD Direct Evidence: marker/mechanism

NCBI chr13:18,860,596...18,865,987
Ensembl chr13:18,860,730...18,865,983

G

C-C motif chemokine receptor 7

CTD Direct Evidence: marker/mechanism

NCBI chr12:21,857,286...21,869,211
Ensembl chr12:21,857,286...21,872,475

G

CD163 molecule

disease_progression

protein:increased expression:lymph node tumor (human)

NCBI chr 5:63,300,200...63,334,497
Ensembl chr 5:63,300,231...63,334,498

G

CD274 molecule

disease_progression

NCBI chr 1:216,646,378...216,792,731
Ensembl chr 1:216,660,041...216,792,724

G

CD28 molecule

CTD Direct Evidence: marker/mechanism

NCBI chr15:107,128,103...107,155,431
Ensembl chr15:107,128,203...107,162,935

G

CD68 molecule

disease_progression

protein:increased expression:lymph node tumor (human)

NCBI chr12:52,874,754...52,877,256
Ensembl chr12:52,874,785...52,877,695

G

CD80 molecule

NCBI chr13:140,693,312...140,730,541
Ensembl chr13:140,693,382...140,728,976

G

CD86 molecule

NCBI chr13:138,427,573...138,504,307
Ensembl chr13:138,427,533...138,504,310

G

casein kinase 1 alpha 1

CTD Direct Evidence: marker/mechanism

NCBI chr 2:150,612,845...150,662,431
Ensembl chr 2:150,612,077...150,662,284

G

casein kinase 2 alpha 1

CTD Direct Evidence: marker/mechanism

NCBI chr17:34,692,960...34,748,067

G

casein kinase 2 beta

CTD Direct Evidence: marker/mechanism

NCBI chr 7:23,781,194...23,787,914
Ensembl chr 7:23,780,362...23,788,678
Ensembl chr 7:23,780,362...23,788,678

G

cytotoxic T-lymphocyte associated protein 4

CTD Direct Evidence: marker/mechanism

NCBI chr15:107,283,081...107,288,041
Ensembl chr15:107,282,927...107,289,103

G

Fas cell surface death receptor

susceptibility

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

PMID:7513372 PMID:17962369

RGD:11049147 RGD:11049453

NCBI chr14:100,927,305...100,954,781
Ensembl chr14:100,927,089...100,956,716

G

forkhead box P3

disease_progression

CTD Direct Evidence: marker/mechanism

PMID:23797717 PMID:23962110

NCBI chr X:43,303,777...43,328,164
Ensembl chr X:43,303,785...43,322,968

G

FYN proto-oncogene, Src family tyrosine kinase

CTD Direct Evidence: marker/mechanism

NCBI chr 1:77,584,675...77,810,605
Ensembl chr 1:77,585,439...77,810,581

G

GATA binding protein 3

CTD Direct Evidence: marker/mechanism

NCBI chr10:63,367,684...63,397,977
Ensembl chr10:63,367,663...63,388,859

G

G protein-coupled receptor 183

CTD Direct Evidence: marker/mechanism

NCBI chr11:68,231,851...68,248,627
Ensembl chr11:68,231,224...68,245,751

G

heterogeneous nuclear ribonucleoprotein A2/B1

CTD Direct Evidence: marker/mechanism

NCBI chr18:46,205,164...46,215,861
Ensembl chr18:46,205,418...46,215,856

G

inducible T cell costimulator

CTD Direct Evidence: marker/mechanism

NCBI chr15:107,350,253...107,370,123
Ensembl chr15:107,350,203...107,370,119

G

interferon, alpha 1

CTD Direct Evidence: therapeutic

NCBI chr 1:201,515,835...201,516,477
Ensembl chr 1:201,515,809...201,516,488

G

interferon gamma

treatment

CTD Direct Evidence: marker/mechanism

PMID:8800741 PMID:23962110

NCBI chr 5:32,477,906...32,482,670
Ensembl chr 5:32,477,906...32,482,670

G

IKAROS family zinc finger 2

CTD Direct Evidence: marker/mechanism

NCBI chr15:115,512,160...115,677,503
Ensembl chr15:115,512,179...115,677,374

G

interleukin 10

CTD Direct Evidence: marker/mechanism

PMID:8704212 PMID:23962110

NCBI chr 9:67,400,727...67,405,941
Ensembl chr 9:67,400,728...67,405,378

G

interleukin 2

CTD Direct Evidence: marker/mechanism

NCBI chr 8:101,640,938...101,645,683
Ensembl chr 8:101,640,944...101,645,609

G

interleukin 4

CTD Direct Evidence: marker/mechanism

NCBI chr 2:134,986,817...134,994,365
Ensembl chr 2:134,986,817...134,994,365

G

interleukin 5

disease_progression

protein:increased expression:serum

NCBI chr 2:134,832,143...134,846,141
Ensembl chr 2:134,832,147...134,835,212

G

interleukin 6

protein:increased expression:serum (human)

NCBI chr 9:91,506,421...91,510,830
Ensembl chr 9:91,506,421...91,511,263

G

interferon regulatory factor 4

CTD Direct Evidence: marker/mechanism

NCBI chr 7:133,358...149,609
Ensembl chr 7:133,371...149,609

G

Janus kinase 3

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

NCBI chr 2:59,905,901...59,926,504
Ensembl chr 2:59,905,919...59,926,495

G

MYB proto-oncogene, transcription factor

disease_progression

mRNA:splice variants:CD4+ T cell:

NCBI chr 1:28,819,500...28,856,222
Ensembl chr 1:28,819,503...28,856,999

G

notch receptor 1

DNA:mutations:multiple (human)

G

NRAS proto-oncogene, GTPase

disease_progression

NCBI chr 4:105,845,913...105,853,769
Ensembl chr 4:105,845,872...105,858,227

G

phospholipase C gamma 1

CTD Direct Evidence: marker/mechanism

NCBI chr17:43,810,003...43,844,553
Ensembl chr17:43,810,048...43,844,554

G

protein kinase C beta

CTD Direct Evidence: marker/mechanism

NCBI chr 3:21,995,227...22,383,628
Ensembl chr 3:21,995,231...22,383,264

G

signal transducer and activator of transcription 3

CTD Direct Evidence: marker/mechanism

NCBI chr12:20,407,316...20,471,091
Ensembl chr12:20,407,233...20,472,992

G

TAL bHLH transcription factor 2

NCBI chr 1:246,932,975...246,944,722
Ensembl chr 1:246,933,241...246,942,163

G

telomeric repeat binding factor 2

CTD Direct Evidence: marker/mechanism

NCBI chr 6:17,605,748...17,631,795
Ensembl chr 6:17,605,763...17,631,721

G

T cell leukemia homeobox 1

CTD Direct Evidence: marker/mechanism

PMID:1683261 PMID:1717256

NCBI chr14:112,206,964...112,213,957
Ensembl chr14:112,207,360...112,213,955

G

TNF superfamily member 8

CTD Direct Evidence: marker/mechanism

NCBI chr 1:255,436,206...255,459,020
Ensembl chr 1:255,432,969...255,459,073

G

tumor protein p73

CTD Direct Evidence: marker/mechanism

NCBI chr 6:65,169,770...65,228,997
Ensembl chr 6:65,182,456...65,228,990

G

vav guanine nucleotide exchange factor 1

CTD Direct Evidence: marker/mechanism

NCBI chr 2:72,327,433...72,391,649
Ensembl chr 2:72,326,716...72,391,648

agammaglobulinemia

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

B cell linker

susceptibility

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

NCBI chr14:107,630,477...107,715,421
Ensembl chr14:107,625,803...107,715,364

G

Bruton tyrosine kinase

susceptibility

DNA:insertions, point mutations
ClinVar Annotator: match by term: Agammaglobulinemia

PMID:8162018 PMID:10352268

NCBI chr X:82,981,512...83,014,475
Ensembl chr X:82,981,515...83,014,573

G

CD19 molecule

CTD Direct Evidence: marker/mechanism

NCBI chr 3:18,592,785...18,601,273
Ensembl chr 3:18,592,880...18,601,263

G

CD79a molecule

CTD Direct Evidence: marker/mechanism

NCBI chr 6:49,996,116...49,999,294
Ensembl chr 6:49,995,765...49,999,340

G

CD79b molecule

CTD Direct Evidence: marker/mechanism

NCBI chr12:15,052,966...15,056,441
Ensembl chr12:15,053,007...15,056,438

G

leucine rich repeat containing 8 VRAC subunit A

CTD Direct Evidence: marker/mechanism

NCBI chr 1:269,209,660...269,238,529
Ensembl chr 1:269,209,693...269,238,521

G

transcription factor 3

CTD Direct Evidence: marker/mechanism

NCBI chr 2:76,859,079...76,906,275
Ensembl chr 2:76,859,089...76,898,351

agammaglobulinemia 1

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

Bruton tyrosine kinase

ClinVar Annotator: match by term: Autosomal recessive agammaglobulinemia 1

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

NCBI chr X:82,981,512...83,014,475
Ensembl chr X:82,981,515...83,014,573

G

CD79a molecule

ClinVar Annotator: match by term: Autosomal recessive agammaglobulinemia 1

PMID:25741868 PMID:28492532

NCBI chr 6:49,996,116...49,999,294
Ensembl chr 6:49,995,765...49,999,340

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 2:15,227,850...15,245,679
Ensembl chr 2:15,227,881...15,245,677

agammaglobulinemia 2

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

chromosome 14 C22orf15 homolog

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

NCBI chr14:49,924,196...49,926,033
Ensembl chr14:49,923,613...49,926,264

G

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

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

NCBI chr14:49,921,600...49,923,529
Ensembl chr14:49,921,595...49,923,526

G

derlin 3

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

NCBI chr14:49,871,077...49,875,022
Ensembl chr14:49,871,218...49,877,672

G

macrophage migration inhibitory factor

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

NCBI chr14:49,840,303...49,841,063
Ensembl chr14:49,840,305...49,841,068

G

matrix metallopeptidase 11

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

NCBI chr14:49,907,684...49,917,494
Ensembl chr14:49,907,687...49,912,617

G

solute carrier family 2 member 11

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

NCBI chr14:49,845,481...49,864,912
Ensembl chr14:49,845,324...49,863,188

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 chr14:49,874,981...49,906,043
Ensembl chr14:49,874,984...49,906,048

G

V-set pre-B cell surrogate light chain 3

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

NCBI chr14:49,924,874...49,929,562
Ensembl chr14:49,925,379...49,929,541

agammaglobulinemia 3

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

CD79a molecule

ClinVar Annotator: match by term: AGAMMAGLOBULINEMIA, 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 6:49,996,116...49,999,294
Ensembl chr 6:49,995,765...49,999,340

G

ribosomal protein S19

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

NCBI chr 6:50,003,198...50,010,135
Ensembl chr 6:50,000,948...50,010,341

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 chr14:107,174,062...107,221,373
Ensembl chr14:107,170,689...107,221,215

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 chr14:107,630,477...107,715,421
Ensembl chr14:107,625,803...107,715,364

G

coiled-coil and C2 domain containing 2B

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

NCBI chr14:107,411,853...107,506,054
Ensembl chr14:107,414,080...107,506,045

G

cyclin J

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

NCBI chr14:107,518,663...107,542,767
Ensembl chr14:107,505,464...107,542,760

G

ectonucleoside triphosphate diphosphohydrolase 1

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

NCBI chr14:107,263,546...107,390,923
Ensembl chr14:107,263,449...107,389,010

G

tectonic family member 3

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

NCBI chr14:107,230,820...107,263,364
Ensembl chr14:107,230,934...107,263,344

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 chr14:107,590,080...107,633,917
Ensembl chr14:107,590,598...107,619,768

agammaglobulinemia 5

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

leucine rich repeat containing 8 VRAC subunit A

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

PMID:24033266 PMID:25741868 PMID:28492532

NCBI chr 1:269,209,660...269,238,529
Ensembl chr 1:269,209,693...269,238,521

agammaglobulinemia 6

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

CD79b molecule

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

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

NCBI chr12:15,052,966...15,056,441
Ensembl chr12:15,053,007...15,056,438

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 chr16:46,434,757...46,523,626
Ensembl chr16:46,511,521...46,523,609

Agammaglobulinemia 8

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

transcription factor 3

ClinVar Annotator: match by term: TCF3-related condition

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

NCBI chr 2:76,859,079...76,906,275
Ensembl chr 2:76,859,089...76,898,351

agammaglobulinemia 8A

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

transcription factor 3

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

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

NCBI chr 2:76,859,079...76,906,275
Ensembl chr 2:76,859,089...76,898,351

agammaglobulinemia 8B

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

transcription factor 3

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

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

NCBI chr 2:76,859,079...76,906,275
Ensembl chr 2:76,859,089...76,898,351

agammaglobulinemia 9

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

solute carrier family 39 member 7

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

PMID:25741868 PMID:28492532 PMID:30718914

NCBI chr 7:25,242,862...25,247,407
Ensembl chr 7:25,242,971...25,247,404

anaplastic large cell lymphoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ALK receptor tyrosine kinase

CTD Direct Evidence: marker/mechanism

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

NCBI chr 3:109,411,146...110,105,755

G

heat shock protein 90 alpha family class A member 1

CTD Direct Evidence: marker/mechanism

G

interferon regulatory factor 4

DNA:translocation

NCBI chr 7:133,358...149,609
Ensembl chr 7:133,371...149,609

G

JunB proto-oncogene, AP-1 transcription factor subunit

NCBI chr 2:66,214,086...66,219,435
Ensembl chr 2:66,214,138...66,217,002

G

RELA proto-oncogene, NF-kB subunit

CTD Direct Evidence: marker/mechanism

NCBI chr 2:6,594,869...6,602,684
Ensembl chr 2:6,593,969...6,603,469

G

signal transducer and activator of transcription 3

CTD Direct Evidence: marker/mechanism

NCBI chr12:20,407,316...20,471,091
Ensembl chr12:20,407,233...20,472,992

G

TNF receptor superfamily member 8

CTD Direct Evidence: marker/mechanism

PMID:10908157 PMID:17261581

NCBI chr 6:72,103,309...72,174,882

G

twist family bHLH transcription factor 1

CTD Direct Evidence: marker/mechanism

NCBI chr 9:88,286,911...88,290,131
Ensembl chr 9:88,289,407...88,290,015

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 8:116,413,253...116,546,976
Ensembl chr 8:116,415,267...116,545,299

autoimmune lymphoproliferative syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

actin alpha 2, smooth muscle

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 chr14:100,868,145...100,886,732
Ensembl chr14:100,867,733...100,886,713

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 chr14:100,747,955...100,772,412
Ensembl chr14:100,747,957...100,772,362

G

chromosome 9 C1orf105 homolog

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

PMID:22857792 PMID:25451160 PMID:28492532

NCBI chr 9:114,828,414...114,850,267
Ensembl chr 9:114,814,030...114,851,040

G

caspase 10

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

PMID:11973654 PMID:25741868 PMID:27577878 PMID:27872624 PMID:28492532 More...

NCBI chr15:104,858,082...104,895,941
Ensembl chr15:104,858,100...104,894,933

G

caspase 8

CTD Direct Evidence: marker/mechanism

NCBI chr15:104,923,659...104,948,470
Ensembl chr15:104,923,953...104,948,468

G

centromere protein L

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

PMID:22857792 PMID:25451160 PMID:28492532

NCBI chr 9:116,090,868...116,109,822
Ensembl chr 9:116,090,870...116,109,483

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 chr14:101,122,318...101,128,622
Ensembl chr14:101,123,398...101,125,593

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 9:116,109,970...116,140,635
Ensembl chr 9:116,109,986...116,140,627

G

dynamin 3

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

PMID:22857792 PMID:25451160 PMID:28492532

NCBI chr 9:114,262,782...114,805,252
Ensembl chr 9:114,262,791...114,797,674

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

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

NCBI chr14:100,927,305...100,954,781
Ensembl chr14:100,927,089...100,956,716

G

Fas ligand

susceptibility

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

NCBI chr 9:115,068,314...115,075,147
Ensembl chr 9:115,068,090...115,076,464

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 chr14:101,193,421...101,204,292
Ensembl chr14:101,193,419...101,204,288

G

interferon induced protein with tetratricopeptide repeats 3

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

NCBI chr14:101,237,403...101,249,486
Ensembl chr14:101,237,571...101,249,498

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 chr14:101,214,730...101,225,169
Ensembl chr14:101,214,710...101,225,164

G

interferon induced protein with tetratricopeptide repeats 5

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

NCBI chr14:101,254,818...101,266,105
Ensembl chr14:101,263,445...101,267,067

G

kelch like family member 20

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

PMID:22857792 PMID:25451160 PMID:28492532

NCBI chr 9:116,005,562...116,083,478
Ensembl chr 9:116,005,574...116,083,452

G

lipase A, lysosomal acid type

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 chr14:101,131,372...101,254,739
Ensembl chr14:101,126,257...101,193,614

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 chr14:100,716,038...100,748,916
Ensembl chr14:100,726,480...100,748,300

G

lipase 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 chr14:100,678,863...100,710,229
Ensembl chr14:100,691,955...100,710,316

G

ankyrin repeat domain-containing protein 45

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

PMID:22857792 PMID:25451160 PMID:28492532

NCBI chr 9:115,868,345...115,987,710
Ensembl chr 9:115,948,210...115,987,643

G

methyltransferase 13, eEF1A N-terminus and K55

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

PMID:22857792 PMID:25451160 PMID:28492532

NCBI chr 9:114,202,494...114,218,371
Ensembl chr 9:114,202,484...114,218,368

G

microRNA mir-199a-1

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

PMID:22857792 PMID:25451160 PMID:28492532

NCBI chr 9:114,533,783...114,533,858
Ensembl chr 9:114,533,777...114,533,880

G

microRNA mir-214

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

PMID:22857792 PMID:25451160 PMID:28492532

NCBI chr 9:114,527,992...114,528,101
Ensembl chr 9:114,527,990...114,528,101

G

matrix metallopeptidase 9

disease_progression

NCBI chr17:48,179,690...48,186,782
Ensembl chr17:48,179,671...48,186,788

G

myocilin

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

PMID:22857792 PMID:25451160 PMID:28492532

NCBI chr 9:114,087,370...114,098,765
Ensembl chr 9:114,087,378...114,098,745

G

NRAS proto-oncogene, GTPase

CTD Direct Evidence: marker/mechanism

NCBI chr 4:105,845,913...105,853,769
Ensembl chr 4:105,845,872...105,858,227

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 9:114,824,795...114,827,731
Ensembl chr 9:114,824,802...114,827,413

G

peroxiredoxin 6

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

PMID:22857792 PMID:25451160 PMID:28492532

NCBI chr 9:115,857,629...115,868,898
Ensembl chr 9:115,857,644...115,868,892

G

ring finger and CCCH-type domains 1

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

PMID:22857792 PMID:25451160 PMID:28492532

NCBI chr 9:116,204,807...116,292,455
Ensembl chr 9:116,208,799...116,292,381

G

renalase, FAD dependent amine oxidase

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

NCBI chr14:100,312,592...100,604,953
Ensembl chr14:100,317,625...100,605,063

G

serpin family C member 1

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

PMID:22857792 PMID:25451160 PMID:28492532

NCBI chr 9:116,181,988...116,193,100
Ensembl chr 9:116,181,670...116,193,201

G

solute carrier family 16 member 12

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

NCBI chr14:101,273,977...101,368,350
Ensembl chr14:101,273,996...101,368,132

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 chr14:100,798,096...100,859,576
Ensembl chr14:100,798,088...100,859,567

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 9:114,916,957...115,007,979
Ensembl chr 9:114,916,855...115,007,972

G

TNF superfamily member 18

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

PMID:22857792 PMID:25451160 PMID:28492532

NCBI chr 9:115,447,438...115,460,649
Ensembl chr 9:115,448,973...115,460,950

G

TNF superfamily member 4

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

PMID:22857792 PMID:25451160 PMID:28492532

NCBI chr 9:115,535,185...115,857,457
Ensembl chr 9:115,550,569...115,659,263

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 9:114,138,350...114,174,996
Ensembl chr 9:114,138,330...114,174,979

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 9:116,149,234...116,179,437
Ensembl chr 9:116,149,293...116,181,689

autoimmune lymphoproliferative syndrome type 2A

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

caspase 10

ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIA | ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 2A

PMID:9536098 PMID:10412980 PMID:11973654 PMID:16199547 PMID:16446975 More...

NCBI chr15:104,858,082...104,895,941
Ensembl chr15:104,858,100...104,894,933

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 chr15:106,776,627...106,903,889
Ensembl chr15:106,776,631...106,900,333

G

alsin Rho guanine nucleotide exchange factor ALS2

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

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

NCBI chr15:105,328,717...105,401,152
Ensembl chr15:105,328,719...105,401,093

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 chr15:105,971,577...106,132,496
Ensembl chr15:105,970,428...106,135,730

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 chr15:105,159,814...105,250,918
Ensembl chr15:105,105,234...105,250,563

G

calcium responsive transcription factor

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

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

NCBI chr15:106,410,245...106,482,502
Ensembl chr15:106,410,491...106,466,799

G

caspase 10

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

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

NCBI chr15:104,858,082...104,895,941
Ensembl chr15:104,858,100...104,894,933

G

caspase 8

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

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

NCBI chr15:104,923,659...104,948,470
Ensembl chr15:104,923,953...104,948,468

G

CD28 molecule

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

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

NCBI chr15:107,128,103...107,155,431
Ensembl chr15:107,128,203...107,162,935

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 chr15:105,401,170...105,506,112
Ensembl chr15:105,401,165...105,506,114

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 chr15:104,780,744...104,835,631
Ensembl chr15:104,781,616...104,835,630

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 chr15:107,283,081...107,288,041
Ensembl chr15:107,282,927...107,289,103

G

cytochrome P450 family 20 subfamily A member 1

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

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

NCBI chr15:106,696,722...106,763,126
Ensembl chr15:106,696,717...106,765,131

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 chr15:106,183,217...106,284,318
Ensembl chr15:106,183,205...106,284,313

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 chr15:104,950,504...104,986,350
Ensembl chr15:104,942,349...104,985,722

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 chr15:105,644,164...105,648,860
Ensembl chr15:105,644,188...105,648,850

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 chr15:106,293,936...106,377,573
Ensembl chr15:106,295,934...106,377,579

G

inducible T cell costimulator

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

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

NCBI chr15:107,350,253...107,370,123
Ensembl chr15:107,350,203...107,370,119

G

MAGUK p55 scaffold protein 4

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

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

NCBI chr15:105,277,295...105,319,936
Ensembl chr15:105,277,073...105,323,578

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 chr15:106,516,002...106,686,685
Ensembl chr15:106,517,304...106,680,337

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 chr15:104,747,835...104,759,137
Ensembl chr15:104,747,678...104,759,139

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 chr15:105,893,589...105,930,458
Ensembl chr15:105,893,637...105,930,459

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 chr15:106,900,826...106,997,795

G

STE20 related adaptor beta

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

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

NCBI chr15:105,055,218...105,083,429
Ensembl chr15:105,055,274...105,126,927

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 chr15:105,820,237...105,850,099
Ensembl chr15:105,818,858...105,850,233

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 chr15:105,255,485...105,276,624
Ensembl chr15:105,252,479...105,276,970

G

trafficking kinesin protein 2

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

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

NCBI chr15:104,991,261...105,056,054
Ensembl chr15:104,991,726...105,055,025

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 chr15:106,380,748...106,410,723
Ensembl chr15:106,380,755...106,410,416

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 chr13:35,290,835...35,323,245
Ensembl chr13:35,290,610...35,323,356

G

RFT1 homolog

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

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

NCBI chr13:35,196,844...35,257,806
Ensembl chr13:35,207,145...35,257,795

autoimmune lymphoproliferative syndrome type 4

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

KRAS proto-oncogene, GTPase

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 5:48,508,774...48,546,260
Ensembl chr 5:48,508,811...48,549,358

G

NRAS proto-oncogene, GTPase

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

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

NCBI chr 4:105,845,913...105,853,769
Ensembl chr 4:105,845,872...105,858,227

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 chr14:100,927,305...100,954,781
Ensembl chr14:100,927,089...100,956,716

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 9:115,068,314...115,075,147
Ensembl chr 9:115,068,090...115,076,464

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 chr15:106,776,627...106,903,889
Ensembl chr15:106,776,631...106,900,333

G

alsin Rho guanine nucleotide exchange factor ALS2

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

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

NCBI chr15:105,328,717...105,401,152
Ensembl chr15:105,328,719...105,401,093

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 chr15:105,971,577...106,132,496
Ensembl chr15:105,970,428...106,135,730

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 chr15:105,159,814...105,250,918
Ensembl chr15:105,105,234...105,250,563

G

calcium responsive transcription 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 chr15:106,410,245...106,482,502
Ensembl chr15:106,410,491...106,466,799

G

caspase 10

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

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

NCBI chr15:104,858,082...104,895,941
Ensembl chr15:104,858,100...104,894,933

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 chr15:104,923,659...104,948,470
Ensembl chr15:104,923,953...104,948,468

G

CD28 molecule

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

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

NCBI chr15:107,128,103...107,155,431
Ensembl chr15:107,128,203...107,162,935

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 chr15:105,401,170...105,506,112
Ensembl chr15:105,401,165...105,506,114

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 chr15:104,780,744...104,835,631
Ensembl chr15:104,781,616...104,835,630

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 chr15:107,283,081...107,288,041
Ensembl chr15:107,282,927...107,289,103

G

cytochrome P450 family 20 subfamily A member 1

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

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

NCBI chr15:106,696,722...106,763,126
Ensembl chr15:106,696,717...106,765,131

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 chr15:106,183,217...106,284,318
Ensembl chr15:106,183,205...106,284,313

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 chr15:104,950,504...104,986,350
Ensembl chr15:104,942,349...104,985,722

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 chr15:105,644,164...105,648,860
Ensembl chr15:105,644,188...105,648,850

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 chr15:106,293,936...106,377,573
Ensembl chr15:106,295,934...106,377,579

G

inducible T cell costimulator

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

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

NCBI chr15:107,350,253...107,370,123
Ensembl chr15:107,350,203...107,370,119

G

MAGUK p55 scaffold protein 4

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

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

NCBI chr15:105,277,295...105,319,936
Ensembl chr15:105,277,073...105,323,578

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 chr15:106,516,002...106,686,685
Ensembl chr15:106,517,304...106,680,337

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 chr15:104,747,835...104,759,137
Ensembl chr15:104,747,678...104,759,139

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 chr15:105,893,589...105,930,458
Ensembl chr15:105,893,637...105,930,459

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 chr15:106,900,826...106,997,795

G

STE20 related adaptor beta

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

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

NCBI chr15:105,055,218...105,083,429
Ensembl chr15:105,055,274...105,126,927

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 chr15:105,820,237...105,850,099
Ensembl chr15:105,818,858...105,850,233

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 chr15:105,255,485...105,276,624
Ensembl chr15:105,252,479...105,276,970

G

trafficking kinesin protein 2

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

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

NCBI chr15:104,991,261...105,056,054
Ensembl chr15:104,991,726...105,055,025

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 chr15:106,380,748...106,410,723
Ensembl chr15:106,380,755...106,410,416

autosomal recessive osteopetrosis 7

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

TNF receptor superfamily member 11a

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

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

NCBI chr 1:159,128,039...159,187,476
Ensembl chr 1:159,128,038...159,187,481

B-cell acute lymphoblastic leukemia

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ERCC excision repair 4, endonuclease catalytic subunit

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

PMID:23623386 PMID:25741868

NCBI chr 3:29,266,234...29,306,109
Ensembl chr 3:29,269,989...29,306,151

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 chr12:43,487,098...43,754,205
Ensembl chr12:43,489,813...43,753,969

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 2:28,411,467...28,456,007
Ensembl chr 2:28,411,803...28,455,997

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 2A

susceptibility

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

NCBI chr 8:130,853,414...130,945,388
Ensembl chr 8:130,889,684...130,945,393

G

acyl-CoA oxidase like

CTD Direct Evidence: marker/mechanism

NCBI chr 3:45,202,875...45,563,062
Ensembl chr 3:45,203,195...45,538,220

G

activation induced cytidine deaminase

disease_progression

NCBI chr 5:62,777,236...62,787,342
Ensembl chr 5:62,777,352...62,787,369

G

apolipoprotein E

disease_progression

NCBI chr 6:51,373,113...51,375,333
Ensembl chr 6:51,372,292...51,375,330

G

ATM serine/threonine kinase

CTD Direct Evidence: marker/mechanism

NCBI chr 9:36,620,656...36,759,555
Ensembl chr 9:36,620,658...36,759,552

G

BCL11 transcription factor A

DNA:translocation:5' utr: (human)

NCBI chr 3:81,195,217...81,296,165
Ensembl chr 3:81,196,294...81,296,382

G

BCL2 apoptosis regulator

no_association
treatment
severity

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

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

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

NCBI chr 1:158,337,403...158,518,214
Ensembl chr 1:158,337,522...158,518,879

G

Bcl2 modifying factor

CTD Direct Evidence: marker/mechanism

NCBI chr 1:131,178,021...131,199,668
Ensembl chr 1:131,178,315...131,200,393

G

B-Raf proto-oncogene, serine/threonine kinase

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

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

NCBI chr18:8,957,963...9,132,558
Ensembl chr18:8,957,991...9,132,553

G

Bruton tyrosine kinase

treatment

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

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

NCBI chr X:82,981,512...83,014,475
Ensembl chr X:82,981,515...83,014,573

G

Cbl proto-oncogene

severity

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

NCBI chr 9:46,416,937...46,512,855
Ensembl chr 9:46,416,938...46,512,834

G

coiled-coil domain containing 50

NCBI chr13:128,619,223...128,690,964
Ensembl chr13:128,619,230...128,690,649

G

CD40 molecule

NCBI chr17:48,286,116...48,298,188
Ensembl chr17:48,286,029...48,298,528

G

CD40 ligand

mouse-human chimeric gene in human

NCBI chr X:111,778,666...111,788,901
Ensembl chr X:111,778,493...111,789,709

G

CD5 molecule

CTD Direct Evidence: marker/mechanism

NCBI chr 2:10,648,973...10,673,479
Ensembl chr 2:10,648,974...10,673,919

G

CD79b molecule

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

PMID:9269755 PMID:10090943 PMID:10552962

RGD:11250403 RGD:151665190 RGD:151665202

NCBI chr12:15,052,966...15,056,441
Ensembl chr12:15,053,007...15,056,438

G

CD86 molecule

severity

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

NCBI chr13:138,427,573...138,504,307
Ensembl chr13:138,427,533...138,504,310

G

cytoplasmic polyadenylation element binding protein 1

CTD Direct Evidence: marker/mechanism

NCBI chr 7:52,329,054...52,382,408
Ensembl chr 7:52,304,472...52,383,732

G

cytotoxic T-lymphocyte associated protein 4

protein:increased expression:T cell

PMID:15914560 PMID:16094420

RGD:11344923 RGD:11352246

NCBI chr15:107,283,081...107,288,041
Ensembl chr15:107,282,927...107,289,103

G

dyskerin pseudouridine synthase 1

NCBI chr X:125,218,928...125,228,881
Ensembl chr X:125,218,923...125,229,525

G

DNA methyltransferase 3 beta

mRNA:decreased expression: B cell

NCBI chr17:36,345,715...36,386,076
Ensembl chr17:36,345,816...36,386,072

G

ERCC excision repair 2, TFIIH core complex helicase subunit

severity

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

PMID:19484764 PMID:22739018

RGD:11252203 RGD:11252204

NCBI chr 6:51,734,318...51,757,508
Ensembl chr 6:51,734,320...51,757,553

G

FERM, ARH/RhoGEF and pleckstrin domain protein 2

CTD Direct Evidence: marker/mechanism

NCBI chr15:140,060,304...140,144,059
Ensembl chr15:140,060,372...140,144,037

G

Fas cell surface death receptor

disease_progression

NCBI chr14:100,927,305...100,954,781
Ensembl chr14:100,927,089...100,956,716

G

F-box and WD repeat domain containing 7

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

PMID:25741868 PMID:26619011

NCBI chr 8:76,482,027...76,699,354
Ensembl chr 8:76,482,844...76,699,348

G

Fc fragment of IgG receptor IIIa

no_association

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

NCBI chr 4:88,948,357...88,956,513

G

GNAS complex locus

disease_progression

DNA:polymorphism:393T>C (human)

NCBI chr17:58,985,580...59,053,022
Ensembl chr17:58,998,981...59,053,021

G

HRas proto-oncogene, GTPase

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

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

NCBI chr 2:299,662...302,539
Ensembl chr 2:299,660...302,501

G

intercellular adhesion molecule 1

severity

NCBI chr 2:69,097,136...69,107,722
Ensembl chr 2:69,097,122...69,108,205

G

interferon gamma

susceptibility

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

NCBI chr 5:32,477,906...32,482,670
Ensembl chr 5:32,477,906...32,482,670

G

interleukin 10

disease_progression
no_association

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

PMID:10638947 PMID:19573080 PMID:22945689

RGD:11041895 RGD:11049165 RGD:11049174

NCBI chr 9:67,400,727...67,405,941
Ensembl chr 9:67,400,728...67,405,378

G

interleukin 19

CTD Direct Evidence: marker/mechanism

NCBI chr 9:67,469,519...67,479,597
Ensembl chr 9:67,469,524...67,479,813

G

interleukin 1 alpha

NCBI chr 3:43,718,320...43,731,668
Ensembl chr 3:43,718,368...43,731,119

G

interleukin 1 receptor antagonist

protein:decreased expression:plasma:

G

interleukin 6

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

PMID:10870116 PMID:18006695

NCBI chr 9:91,506,421...91,510,830
Ensembl chr 9:91,506,421...91,511,263

G

interferon regulatory factor 4

disease_progression

CTD Direct Evidence: marker/mechanism

PMID:12079517 PMID:12393648 PMID:18758461

RGD:11526160 RGD:11530024

NCBI chr 7:133,358...149,609
Ensembl chr 7:133,371...149,609

G

integrin subunit alpha 4

CTD Direct Evidence: marker/mechanism

NCBI chr15:86,942,054...87,028,428
Ensembl chr15:86,947,240...87,030,364

G

KRAS proto-oncogene, GTPase

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

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

NCBI chr 5:48,508,774...48,546,260
Ensembl chr 5:48,508,811...48,549,358

G

lymphoid enhancer binding factor 1

CTD Direct Evidence: marker/mechanism

NCBI chr 8:113,824,511...113,944,078
Ensembl chr 8:113,825,161...113,944,070

G

tumor necrosis factor receptor superfamily member 10B-like

susceptibility

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

PMID:15531454 PMID:16217763

RGD:11038717 RGD:11038718

NCBI chr14:7,344,788...7,371,086

G

interleukin-1 beta-like

severity

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

PMID:10870116 PMID:18271063

RGD:11051967 RGD:11522755

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 2:303,836...323,701
Ensembl chr 2:304,430...323,699

G

microRNA mir-143

CTD Direct Evidence: marker/mechanism

NCBI chr 2:150,578,738...150,578,817
Ensembl chr 2:150,578,738...150,578,817

G

microRNA mir-145

CTD Direct Evidence: marker/mechanism

NCBI chr 2:150,580,126...150,580,211
Ensembl chr 2:150,580,126...150,580,211

G

membrane spanning 4-domains A1

NCBI chr 2:11,216,238...11,229,060
Ensembl chr 2:11,215,901...11,222,914

G

methylenetetrahydrofolate reductase

CTD Direct Evidence: marker/mechanism

NCBI chr 6:71,863,637...71,882,118
Ensembl chr 6:71,863,637...71,881,820

G

MYD88 innate immune signal transduction adaptor

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

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

NCBI chr13:22,976,951...22,979,568
Ensembl chr13:22,966,137...22,983,109

G

NRAS proto-oncogene, GTPase

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

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

NCBI chr 4:105,845,913...105,853,769
Ensembl chr 4:105,845,872...105,858,227

G

purinergic receptor P2X 7

CTD Direct Evidence: marker/mechanism

NCBI chr14:31,415,188...31,476,502
Ensembl chr14:31,415,193...31,476,472

G

platelet and endothelial cell adhesion molecule 1

severity

protein:increased expression:B cell (human)

NCBI chr12:14,667,643...14,723,296
Ensembl chr12:14,649,044...14,723,293

G

phospholipase C gamma 2

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

PMID:24869598 PMID:28492532

NCBI chr 6:6,433,146...6,603,092
Ensembl chr 6:6,433,153...6,603,060

G

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

CTD Direct Evidence: marker/mechanism

NCBI chr 1:161,184,458...161,188,138
Ensembl chr 1:161,182,887...161,188,164

G

DNA polymerase beta

CTD Direct Evidence: marker/mechanism

NCBI chr17:11,356,130...11,388,122
Ensembl chr17:11,356,129...11,388,821

G

protein phosphatase 2 regulatory subunit B'gamma

CTD Direct Evidence: marker/mechanism

G

PRAME nuclear receptor transcriptional regulator

protein:increased expression:mononuclear cell (human)

NCBI chr14:48,901,097...48,906,855
Ensembl chr14:48,899,343...48,911,231

G

protein kinase D2

CTD Direct Evidence: marker/mechanism

NCBI chr 6:52,559,066...52,599,174
Ensembl chr 6:52,559,393...52,599,132

G

prostaglandin-endoperoxide synthase 2

CTD Direct Evidence: marker/mechanism

NCBI chr 9:127,850,164...127,858,866
Ensembl chr 9:127,850,015...127,858,884

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 chr14:39,202,165...39,292,041
Ensembl chr14:39,202,169...39,292,003

G

glutaminyl-peptide cyclotransferase

CTD Direct Evidence: marker/mechanism

NCBI chr 3:102,795,199...102,823,090
Ensembl chr 3:102,792,720...102,823,026

G

RB transcriptional corepressor like 2

CTD Direct Evidence: marker/mechanism

NCBI chr 6:31,757,718...31,802,047
Ensembl chr 6:31,748,739...31,802,022

G

splicing factor 3b subunit 1

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

PMID:23634996 PMID:25741868 PMID:26619011

NCBI chr15:101,274,968...101,338,018
Ensembl chr15:101,276,851...101,299,105

G

splicing factor 3b subunit 2

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

NCBI chr 2:6,279,039...6,295,550
Ensembl chr 2:6,279,049...6,294,639

G

SP140 nuclear body protein

CTD Direct Evidence: marker/mechanism

NCBI chr15:131,225,305...131,292,172
Ensembl chr15:131,226,626...131,292,170

G

telomerase reverse transcriptase

disease_progression

NCBI chr16:79,258,591...79,276,421
Ensembl chr16:79,258,591...79,276,421

G

transferrin receptor

CTD Direct Evidence: marker/mechanism

NCBI chr13:133,976,765...133,997,554
Ensembl chr13:133,970,985...134,000,276

G

thrombomodulin

NCBI chr17:30,219,870...30,223,499
Ensembl chr17:30,217,303...30,224,099

G

tumor necrosis factor

disease_progression

protein:increased expression:bone marrow, blood, lymphocyte

PMID:12010662 PMID:22945689

RGD:10449463 RGD:11041895

NCBI chr 7:23,699,635...23,702,393
Ensembl chr 7:23,699,628...23,702,416

G

TNF receptor superfamily member 11a

CTD Direct Evidence: marker/mechanism

NCBI chr 1:159,128,039...159,187,476
Ensembl chr 1:159,128,038...159,187,481

G

TNF superfamily member 11

CTD Direct Evidence: marker/mechanism

NCBI chr11:24,468,011...24,505,421
Ensembl chr11:24,468,110...24,505,477

G

TNF superfamily member 13

protein:increased expression:serum

NCBI chr12:52,853,646...52,857,033
Ensembl chr12:52,853,904...52,857,029

G

TNF superfamily member 8

CTD Direct Evidence: marker/mechanism

NCBI chr 1:255,436,206...255,459,020
Ensembl chr 1:255,432,969...255,459,073

G

DNA topoisomerase II binding protein 1

CTD Direct Evidence: marker/mechanism

NCBI chr13:74,768,251...74,846,377
Ensembl chr13:74,768,257...74,846,340

G

tumor protein p53

disease_progression

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

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

NCBI chr12:52,939,643...52,953,786
Ensembl chr12:52,939,644...52,953,818

G

vitamin D receptor

CTD Direct Evidence: marker/mechanism

NCBI chr 5:78,205,807...78,266,505
Ensembl chr 5:78,205,810...78,266,475

G

exportin 1

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

NCBI chr 3:80,255,016...80,300,260
Ensembl chr 3:80,255,146...80,300,327

G

X-ray repair cross complementing 1

severity
no_association

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

NCBI chr 6:50,403,691...50,425,730
Ensembl chr 6:50,403,689...50,425,729

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 2A

susceptibility

DNA:SNP: :rs6857600(human)

NCBI chr 8:130,853,414...130,945,388
Ensembl chr 8:130,889,684...130,945,393

G

activation induced cytidine deaminase

NCBI chr 5:62,777,236...62,787,342
Ensembl chr 5:62,777,352...62,787,369

G

BCL2 like 2

disease_progression

NCBI chr 7:75,765,603...75,770,743
Ensembl chr 7:75,763,078...75,769,763

G

BCL6 transcription repressor

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

NCBI chr13:125,377,247...125,401,328
Ensembl chr13:125,377,250...125,393,330

G

bromodomain containing 2

NCBI chr 7:25,096,579...25,162,591
Ensembl chr 7:25,152,043...25,162,578

G

Bruton tyrosine kinase

treatment

human cell in a mouse model

PMID:25662332 PMID:28348046

RGD:11040764 RGD:124713554

NCBI chr X:82,981,512...83,014,475
Ensembl chr X:82,981,515...83,014,573

G

chromobox 7

NCBI chr 5:9,070,312...9,090,467
Ensembl chr 5:9,070,353...9,087,634

G

CD40 molecule

NCBI chr17:48,286,116...48,298,188
Ensembl chr17:48,286,029...48,298,528

G

colony stimulating factor 2

treatment

NCBI chr 2:134,354,724...134,357,155
Ensembl chr 2:134,354,724...134,357,155

G

colony stimulating factor 3

CTD Direct Evidence: therapeutic

NCBI chr12:22,333,445...22,335,949
Ensembl chr12:22,333,449...22,338,753

G

ELL associated factor 2

CTD Direct Evidence: marker/mechanism

NCBI chr13:138,632,541...138,681,607
Ensembl chr13:138,648,270...138,681,613

G

enhancer of zeste 2 polycomb repressive complex 2 subunit

severity
treatment

PMID:23982173 PMID:29456795

RGD:10755356 RGD:126781726

NCBI chr 9:109,384,976...109,450,943
Ensembl chr 9:109,385,015...109,450,941

G

interleukin 21 receptor

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

NCBI chr 3:19,447,488...19,489,201
Ensembl chr 3:19,443,359...19,489,152

G

Janus kinase 3

CTD Direct Evidence: marker/mechanism

NCBI chr 2:59,905,901...59,926,504
Ensembl chr 2:59,905,919...59,926,495

G

lysine acetyltransferase 5

severity

NCBI chr 2:6,560,544...6,572,461
Ensembl chr 2:6,560,513...6,572,466

G

galectin 1

protein:increased expression:primary tumor (rat)

NCBI chr 5:10,149,069...10,152,514
Ensembl chr 5:10,149,068...10,156,023

G

microRNA mir-143

CTD Direct Evidence: marker/mechanism

NCBI chr 2:150,578,738...150,578,817
Ensembl chr 2:150,578,738...150,578,817

G

microRNA mir-145

CTD Direct Evidence: marker/mechanism

NCBI chr 2:150,580,126...150,580,211
Ensembl chr 2:150,580,126...150,580,211

G

NRAS proto-oncogene, GTPase

CTD Direct Evidence: marker/mechanism

NCBI chr 4:105,845,913...105,853,769
Ensembl chr 4:105,845,872...105,858,227

G

prostaglandin-endoperoxide synthase 2

CTD Direct Evidence: marker/mechanism

NCBI chr 9:127,850,164...127,858,866
Ensembl chr 9:127,850,015...127,858,884

G

protein tyrosine phosphatase non-receptor type 1

CTD Direct Evidence: marker/mechanism

NCBI chr17:52,017,100...52,086,747
Ensembl chr17:52,017,130...52,086,736

G

signal transducer and activator of transcription 5A

NCBI chr12:20,474,221...20,498,785
Ensembl chr12:20,474,227...20,499,138

G

TNF superfamily member 8

CTD Direct Evidence: marker/mechanism

NCBI chr 1:255,436,206...255,459,020
Ensembl chr 1:255,432,969...255,459,073

G

TNF superfamily member 9

NCBI chr 2:72,578,811...72,582,834
Ensembl chr 2:72,578,821...72,582,745

B-lymphoblastic leukemia/lymphoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ABL proto-oncogene 1, non-receptor tyrosine kinase

treatment

NCBI chr 1:270,761,641...270,906,708
Ensembl chr 1:270,761,668...270,906,708

G

aryl hydrocarbon receptor

CTD Direct Evidence: marker/mechanism

NCBI chr 9:86,511,866...86,555,950
Ensembl chr 9:86,511,369...86,555,943

G

aldo-keto reductase family 1, member C1

treatment

NCBI chr10:65,580,297...65,594,998
Ensembl chr10:65,576,464...65,678,248

G

activating transcription factor 7 interacting protein

CTD Direct Evidence: marker/mechanism

NCBI chr 5:58,022,734...58,149,980
Ensembl chr 5:58,022,741...58,133,399

G

BCL2 like 1

severity

NCBI chr17:35,366,139...35,415,798
Ensembl chr17:35,366,143...35,414,694

G

BCR activator of RhoGEF and GTPase

BCR/ABL fusion

NCBI chr14:49,208,662...49,322,109
Ensembl chr14:49,208,762...49,322,103

G

bromodomain containing 2

NCBI chr 7:25,096,579...25,162,591
Ensembl chr 7:25,152,043...25,162,578

G

cellular communication network factor 2

CTD Direct Evidence: marker/mechanism

NCBI chr 1:31,674,398...31,677,697
Ensembl chr 1:31,674,394...31,677,691

G

cyclin D1

mRNA:increased expression:B cell (mouse)

NCBI chr 2:3,621,242...3,633,380
Ensembl chr 2:3,621,246...3,633,296

G

cyclin dependent kinase inhibitor 2A

susceptibility
treatment

DNA:mutation:cds:c.442C>T,p.A148T,rs3731249 (human)

PMID:16618932 PMID:21622646 PMID:26104880

RGD:11057958 RGD:11251751 RGD:11251772

NCBI chr 1:200,774,496...200,799,149
Ensembl chr 1:200,792,469...200,798,854

G

cytochrome P450 family 3 subfamily A member 22

treatment

DNA:polymorphisms: :

NCBI chr 3:6,617,256...6,665,179
Ensembl chr 3:6,615,343...6,822,817

G

ETS variant transcription factor 6

CTD Direct Evidence: marker/mechanism

PMID:15217836 PMID:24413735 PMID:25807284

NCBI chr 5:60,523,530...60,776,792
Ensembl chr 5:60,523,433...60,776,750

G

coagulation factor XIII A chain

protein:increased expression:B lymphoblast:

NCBI chr 7:3,751,290...3,900,797
Ensembl chr 7:3,751,292...3,900,762

G

coagulation factor III, tissue factor

treatment

NCBI chr 4:122,827,018...122,837,673
Ensembl chr 4:122,826,644...122,837,666

G

fumarate hydratase

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

PMID:25741868 PMID:28492532

NCBI chr10:12,404,143...12,431,843
Ensembl chr10:12,404,176...12,431,824

G

fms related receptor tyrosine kinase 3

mRNA,protein:increased expression:bone marrow:

NCBI chr11:5,370,475...5,455,439
Ensembl chr11:5,370,496...5,455,358

G

GATA binding protein 3

CTD Direct Evidence: marker/mechanism

NCBI chr10:63,367,684...63,397,977
Ensembl chr10:63,367,663...63,388,859

G

indoleamine 2,3-dioxygenase 1

CTD Direct Evidence: marker/mechanism

NCBI chr17:9,245,283...9,260,140
Ensembl chr17:9,245,196...9,260,473

G

IKAROS family zinc finger 1

disease_progression

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

PMID:22699455 PMID:24141364

NCBI chr 9:136,372,202...136,464,942
Ensembl chr 9:136,372,725...136,464,940

G

interleukin 5

NCBI chr 2:134,832,143...134,846,141
Ensembl chr 2:134,832,147...134,835,212

G

interferon regulatory factor 4

PMID:20585039 PMID:21818355 PMID:25006123

RGD:11526159 RGD:11530020 RGD:11530030

NCBI chr 7:133,358...149,609
Ensembl chr 7:133,371...149,609

G

interferon regulatory factor 8

NCBI chr 6:3,041,617...3,060,685
Ensembl chr 6:3,041,645...3,097,406

G

intestine specific homeobox

CTD Direct Evidence: marker/mechanism

G

cytokine receptor-like factor 2

CTD Direct Evidence: marker/mechanism

NCBI chr Y:4,965,886...4,992,529

G

MAX dimerization protein MGA

CTD Direct Evidence: marker/mechanism

NCBI chr 1:129,590,645...129,697,434
Ensembl chr 1:129,594,795...129,697,408

G

MYB proto-oncogene, transcription factor

disease_progression

mRNA:splice variants:cds:

NCBI chr 1:28,819,500...28,856,222
Ensembl chr 1:28,819,503...28,856,999

G

MYC proto-oncogene, bHLH transcription factor

NCBI chr 4:12,455,141...12,460,360
Ensembl chr 4:12,455,122...12,461,078

G

paired box 5

CTD Direct Evidence: marker/mechanism

PMID:24013638 PMID:30643249

NCBI chr 1:237,574,938...237,785,454
Ensembl chr 1:237,575,061...237,785,413

G

platelet derived growth factor receptor alpha

treatment

NCBI chr 8:40,966,568...41,021,440
Ensembl chr 8:40,967,493...41,021,441

G

RB transcriptional corepressor 1

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

PMID:25741868 PMID:28492532

NCBI chr11:19,186,754...19,317,642
Ensembl chr11:19,186,761...19,317,690

G

RUNX family transcription factor 1

CTD Direct Evidence: marker/mechanism

PMID:15217836 PMID:24413735

NCBI chr13:198,371,835...198,635,648
Ensembl chr13:198,371,837...198,638,189

G

signal transducer and activator of transcription 3

CTD Direct Evidence: marker/mechanism

NCBI chr12:20,407,316...20,471,091
Ensembl chr12:20,407,233...20,472,992

G

signal transducer and activator of transcription 5A

protein:increased phosphorylation:bone marrow (human)

NCBI chr12:20,474,221...20,498,785
Ensembl chr12:20,474,227...20,499,138

G

serine/threonine kinase 11

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

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

NCBI chr 2:77,229,888...77,249,322
Ensembl chr 2:77,230,372...77,249,327

G

SUFU negative regulator of hedgehog signaling

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

PMID:25741868 PMID:28492532

NCBI chr14:113,500,001...113,628,064
Ensembl chr14:113,500,842...113,626,003

G

transcription factor 3

CTD Direct Evidence: marker/mechanism

NCBI chr 2:76,859,079...76,906,275
Ensembl chr 2:76,859,089...76,898,351

G

tryptophan 2,3-dioxygenase

CTD Direct Evidence: marker/mechanism

NCBI chr 8:44,708,722...44,725,954
Ensembl chr 8:44,708,746...44,740,962

G

tissue factor pathway inhibitor

treatment

NCBI chr15:92,345,083...92,409,962
Ensembl chr15:92,345,075...92,409,905

G

TNF superfamily member 13

NCBI chr12:52,853,646...52,857,033
Ensembl chr12:52,853,904...52,857,029

G

TNF superfamily member 8

CTD Direct Evidence: marker/mechanism

NCBI chr 1:255,436,206...255,459,020
Ensembl chr 1:255,432,969...255,459,073

G

tumor protein p53

disease_progression

DNA:mutations: :

NCBI chr12:52,939,643...52,953,786
Ensembl chr12:52,939,644...52,953,818

G

WT1 transcription factor

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

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

NCBI chr 2:28,411,467...28,456,007
Ensembl chr 2:28,411,803...28,455,997

B-lymphoblastic leukemia/lymphoma MLL rearranged

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Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

WT1 transcription factor

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

NCBI chr 2:28,411,467...28,456,007
Ensembl chr 2:28,411,803...28,455,997

B-lymphoblastic leukemia/lymphoma with BCR-ABL1

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

mutS homolog 6

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

PMID:22658618 PMID:25741868 PMID:28492532

NCBI chr 3:92,792,590...92,814,154
Ensembl chr 3:92,785,664...92,814,238

B-lymphoblastic leukemia/lymphoma with ETV6-RUNX1

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

bone morphogenetic protein receptor type 1A

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

PMID:25741868 PMID:28492532 PMID:30093976

NCBI chr14:87,743,270...87,891,790
Ensembl chr14:87,742,459...87,891,790

G

partner and localizer of BRCA2

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

PMID:25741868 PMID:28492532 PMID:33471991

NCBI chr 3:22,586,881...22,612,837
Ensembl chr 3:22,586,856...22,612,834

G

RB transcriptional corepressor 1

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

PMID:25741868 PMID:28492532

NCBI chr11:19,186,754...19,317,642
Ensembl chr11:19,186,761...19,317,690