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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Genes (1072)

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 6:1,962,077...2,030,732
Ensembl chr 6:1,962,279...2,026,455

G

ring finger protein 20

disease_progression

NCBI chr12:37,872,953...37,901,421
Ensembl chr12:37,872,578...37,899,864

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

acute lymphoblastic leukemia

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ATP binding cassette subfamily B member 1

susceptibility

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

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

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 chr 9:92,826,423...92,902,389
Ensembl chr 9:92,841,818...92,902,265

G

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

disease_progression

mRNA:increased expression:mononuclear cell:

PMID:12100141 PMID:15521915

RGD:11081076 RGD:11081143

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

G

ABL proto-oncogene 1, non-receptor tyrosine kinase

CTD Direct Evidence: marker/mechanism

PMID:11984797 PMID:21898527

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

G

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

susceptibility

NCBI chr12:4,863,100...4,892,204
Ensembl chr12:4,863,165...4,885,849

G

activation induced cytidine deaminase

treatment

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

G

AT-rich interaction domain 5B

CTD Direct Evidence: marker/mechanism

PMID:19684603 PMID:19684604

NCBI chr 9:69,190,100...69,382,448
Ensembl chr 9:69,190,045...69,382,069

G

aryl hydrocarbon receptor nuclear translocator

CTD Direct Evidence: marker/mechanism

G

BCL2 associated X, apoptosis regulator

NCBI chr 6:42,186,028...42,193,105

G

BCL2 apoptosis regulator

severity

mRNA:increased expression:bone marrow (human)

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

G

BCL2 like 1

treatment

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

PMID:12469194 PMID:19020783

RGD:11353852 RGD:11353866

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

G

BCR activator of RhoGEF and GTPase

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

G

caspase 8

CTD Direct Evidence: therapeutic

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

G

calpastatin

protein:increased expresssion:B cell

NCBI chr 4:90,496,867...90,607,019
Ensembl chr 4:90,497,754...90,605,481

G

cyclin D1

mRNA:increased expression:bone marrow (human)

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

G

CD40 ligand

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

G

CD46 molecule

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

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

G

CD79b molecule

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

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

G

CD86 molecule

severity

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

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

G

cyclin dependent kinase 6

CTD Direct Evidence: marker/mechanism

NCBI chr21:56,167,731...56,403,976
Ensembl chr21:56,170,450...56,393,808

G

CCAAT enhancer binding protein epsilon

CTD Direct Evidence: marker/mechanism

NCBI chr29:23,485,966...23,488,615
Ensembl chr29:23,486,148...23,487,755

G

complement factor B

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

Ensembl chr17:40,069,909...40,094,207

G

CREB binding protein

disease_progression

DNA:mutations:multiple

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

G

colony stimulating factor 3

treatment

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

G

chondroitin sulfate proteoglycan 4

severity

NCBI chr26:7,735,972...7,761,355
Ensembl chr26:7,694,014...7,761,342

G

cytochrome P450 family 1 subfamily A member 1

susceptibility
no_association

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

PMID:16676594 PMID:22964275 PMID:23725389

RGD:11352714 RGD:11352725 RGD:11352728

NCBI chr26:8,753,236...8,759,378
Ensembl chr26:8,753,327...8,759,384

G

cytochrome P450 family 1 subfamily A member 2

CTD Direct Evidence: marker/mechanism

NCBI chr26:8,727,996...8,733,254

G

cytochrome P450 family 1 subfamily B member 1

CTD Direct Evidence: marker/mechanism

NCBI chr14:69,318,713...69,327,277
Ensembl chr14:69,319,495...69,324,157

G

cytochrome P450 family 2 subfamily C member 8

CTD Direct Evidence: marker/mechanism

NCBI chr 9:88,154,131...88,183,915
Ensembl chr 9:88,154,134...88,183,458

G

cytochrome P450 family 2 subfamily D member 6

susceptibility

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

PMID:11037802 PMID:19593802

RGD:11252111 RGD:11352820

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

G

cytochrome P450 family 2 subfamily E member 1

CTD Direct Evidence: marker/mechanism

NCBI chr26:53,390,054...53,403,309
Ensembl chr26:53,390,089...53,404,211

G

cytochrome P450 family 3 subfamily A member 5

susceptibility
disease_progression

DNA:polymorphism: :

PMID:19650988 PMID:22215203

RGD:11353796 RGD:11353805

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

G

dihydrofolate reductase

disease_progression

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

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

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

NCBI chr 4:74,787,292...74,811,196
Ensembl chr 4:74,787,629...74,810,960

G

DNA methyltransferase 3 alpha

treatment

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

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

G

DNA nucleotidylexotransferase

protein:increased activity:peripheral blood,bone marrow:

NCBI chr 9:89,459,347...89,494,985
Ensembl chr 9:89,458,820...89,497,013

G

dihydropyrimidine dehydrogenase

no_association
disease_progression

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

NCBI chr20:35,376,738...36,215,388
Ensembl chr20:35,377,266...36,215,679

G

double homeobox 4

CTD Direct Evidence: marker/mechanism

G

euchromatic histone lysine methyltransferase 1

CTD Direct Evidence: marker/mechanism

NCBI chr12:380,041...545,333
Ensembl chr12:379,943...497,033

G

euchromatic histone lysine methyltransferase 2

CTD Direct Evidence: marker/mechanism

NCBI chr17:40,123,935...40,141,942
Ensembl chr17:40,124,640...40,141,616

G

endoglin

disease_progression

NCBI chr12:10,274,705...10,315,715
Ensembl chr12:10,275,064...10,315,040

G

epoxide hydrolase 1

susceptibility
no_association

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

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

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

NCBI chr25:3,924,396...3,960,264
Ensembl chr25:3,924,606...3,945,535

G

ERCC excision repair 1, endonuclease non-catalytic subunit

susceptibility

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

PMID:16435384 PMID:16723154

RGD:11252160 RGD:11340204

NCBI chr 6:38,857,067...38,900,177
Ensembl chr 6:38,854,803...38,872,967

G

ERCC excision repair 2, TFIIH core complex helicase subunit

no_association

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

PMID:19101034 PMID:21987080

RGD:11252192 RGD:11340201

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

G

ETS transcription factor ERG

ClinVar Annotator: match by term: Acute lymphoid leukemia

NCBI chr 2:82,327,088...82,611,341
Ensembl chr 2:82,326,767...82,447,228

G

ETS variant transcription factor 6

ClinVar Annotator: match by term: Acute lymphoid leukemia

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

G

enhancer of zeste 2 polycomb repressive complex 2 subunit

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

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

G

coagulation factor III, tissue factor

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

G

fibrinogen alpha chain

protein:increased expression:serum (human)

NCBI chr 7:101,127,554...101,134,881
Ensembl chr 7:101,125,791...101,134,405

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

G

folylpolyglutamate synthase

CTD Direct Evidence: marker/mechanism

NCBI chr12:10,316,664...10,329,497
Ensembl chr12:10,317,137...10,335,271

G

GATA binding protein 3

CTD Direct Evidence: marker/mechanism

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

G

growth factor independent 1B transcriptional repressor

mRNA:increased expression:blood:

NCBI chr12:5,145,194...5,158,659
Ensembl chr12:5,145,844...5,150,274

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 chr20:129,654,890...129,765,765
Ensembl chr20:129,707,085...129,766,667

G

glucose-6-phosphate isomerase

NCBI chr 6:29,404,067...29,451,290
Ensembl chr 6:29,403,500...29,453,162

G

glutathione peroxidase 1

treatment

PMID:17317918 PMID:24698347

RGD:11352774 RGD:11352812

NCBI chr22:10,754,976...10,756,617

G

glutathione-disulfide reductase

NCBI chr 8:28,778,713...28,851,907

G

glutathione S-transferase pi 1

disease_progression
susceptibility
no_association

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

PMID:10666194 PMID:15738600 PMID:23979883

RGD:10450829 RGD:10755321 RGD:10755417

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

G

H1.2 linker histone, cluster member

susceptibility

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

NCBI chr17:46,199,245...46,200,970
Ensembl chr17:46,199,304...46,199,942

G

HCK proto-oncogene, Src family tyrosine kinase

CTD Direct Evidence: marker/mechanism

NCBI chr 2:36,441,185...36,490,205
Ensembl chr 2:36,460,495...36,490,190

G

histone deacetylase 1

disease_progression

mRNA:increased expression:bone marrow,blood:

NCBI chr20:100,529,782...100,575,953
Ensembl chr20:100,530,369...100,558,556

G

histone deacetylase 2

disease_progression

mRNA:increased expression:bone marrow,blood:

NCBI chr13:59,873,248...59,904,542
Ensembl chr13:59,873,767...59,905,742

G

histone deacetylase 4

treatment

NCBI chr10:125,098,375...125,450,524
Ensembl chr10:125,098,366...125,403,227

G

homeostatic iron regulator

no_association

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

PMID:10627122 PMID:17107905

RGD:10755557 RGD:10755558

NCBI chr17:46,159,770...46,168,831
Ensembl chr17:46,156,685...46,164,649

G

hexokinase 1

protein:decreased activity:platelet

NCBI chr 9:61,917,501...62,029,737
Ensembl chr 9:61,917,440...62,001,843

G

HLF transcription factor, PAR bZIP family member

CTD Direct Evidence: marker/mechanism

NCBI chr16:38,048,114...38,108,798
Ensembl chr16:38,048,097...38,108,725

G

homeobox D4

ClinVar Annotator: match by term: Leukemia, acute lymphoblastic, susceptibility to

NCBI chr10:61,719,985...61,731,371
Ensembl chr10:61,727,026...61,728,332

G

isocitrate dehydrogenase (NADP(+)) 1

CTD Direct Evidence: marker/mechanism

NCBI chr10:94,021,002...94,039,997
Ensembl chr10:94,020,818...94,039,975

G

interferon gamma

susceptibility

DNA:SNP: :rs2069727(human)

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

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

G

IKAROS family zinc finger 2

CTD Direct Evidence: marker/mechanism

NCBI chr10:98,750,782...98,909,061
Ensembl chr10:98,759,037...98,909,007

G

IKAROS family zinc finger 3

CTD Direct Evidence: marker/mechanism

NCBI chr16:66,302,107...66,399,152
Ensembl chr16:66,303,117...66,397,765

G

interleukin 10

treatment

protein:decreased expression:blood

PMID:15860861 PMID:21653647

RGD:11049158 RGD:11049169

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

G

interferon regulatory factor 4

DNA:SNP:intron:rs12203592 (human)

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

G

inosine triphosphatase

treatment
no_association

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

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

G

lysine demethylase 2B

mRNA:increased expression:bone marrow (human)

NCBI chr11:116,805,541...116,957,236
Ensembl chr11:116,796,370...116,956,334

G

lysine demethylase 3B

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

NCBI chr23:41,027,490...41,111,560
Ensembl chr23:41,062,020...41,112,469

G

lysine demethylase 6A

severity

DNA:mutations:cds:multiple (human)

NCBI chr X:42,053,272...42,291,013
Ensembl chr X:42,053,336...42,290,526

G

lysine methyltransferase 2A

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

PMID:24736461 PMID:25730765

NCBI chr 1:109,819,748...109,912,763
Ensembl chr 1:109,853,758...109,908,113

G

KRAS proto-oncogene, GTPase

disease_progression

PMID:17910045 PMID:25917266

RGD:11060148 RGD:11060149

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

G

LIM domain only 2

OMIM:247640 | OMIM:613065

NCBI chr 1:31,382,437...31,416,256
Ensembl chr 1:31,404,872...31,416,883

G

glutathione S-transferase Mu 1

no_association
disease_progression
susceptibility

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

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

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

G

cytochrome b-245 light chain

mRNA:increased expression:peripheral blood mononuclear cell:

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

G

cytokine receptor like factor 2

CTD Direct Evidence: marker/mechanism

G

MEFV innate immunity regulator, pyrin

susceptibility

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

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

G

major histocompatibility complex, class II, DQ alpha 1

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

NCBI chr17:39,422,445...39,428,777
Ensembl chr17:39,420,134...39,428,871

G

methylenetetrahydrofolate reductase

disease_progression
treatment

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

PMID:16706930 PMID:19923983 PMID:21644011

RGD:10449398 RGD:10449407

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

G

5-methyltetrahydrofolate-homocysteine methyltransferase

disease_progression
no_association
susceptibility

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

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

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

NCBI chr25:73,935,666...74,039,872
Ensembl chr25:73,935,225...74,038,741

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 chr 4:7,461,521...7,493,032
Ensembl chr 4:7,461,526...7,493,840

G

MYC proto-oncogene, bHLH transcription factor

disease_progression

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

G

N-acetyltransferase 2

no_association
susceptibility

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

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

RGD:11353805 RGD:11532767 RGD:11532769

NCBI chr 8:16,451,144...16,494,961
Ensembl chr 8:16,493,749...16,494,621

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

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

G

notch receptor 3

OMIM:247640 | OMIM:613065

NCBI chr 6:13,762,570...13,803,676
Ensembl chr 6:13,761,512...13,793,359

G

NAD(P)H quinone dehydrogenase 1

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

PMID:11774269 PMID:17332311 PMID:18444911

RGD:10769347 RGD:10769359

NCBI chr 5:57,676,547...57,695,434
Ensembl chr 5:57,675,981...57,716,599

G

NRAS proto-oncogene, GTPase

disease_progression

DNA:missense mutation:cds:

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

G

nuclear receptor binding SET domain protein 2

CTD Direct Evidence: therapeutic

NCBI chr27:46,787,325...46,896,898
Ensembl chr27:46,787,154...46,867,792

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5'-nucleotidase, cytosolic II

CTD Direct Evidence: marker/mechanism

NCBI chr 9:96,133,873...96,325,122
Ensembl chr 9:96,135,400...96,219,956

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nucleoporin 214

susceptibility

CTD Direct Evidence: marker/mechanism

NCBI chr12:6,905,047...7,014,907
Ensembl chr12:6,903,096...7,014,887

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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 8:76,404,120...76,541,525
Ensembl chr 8:76,409,223...76,426,138

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

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paraoxonase 1

susceptibility

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

NCBI chr21:53,713,434...53,739,658
Ensembl chr21:53,714,012...53,739,875

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PR/SET domain 14

CTD Direct Evidence: marker/mechanism

NCBI chr 8:65,800,454...65,820,190
Ensembl chr 8:65,800,923...65,819,456

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phosphatase and tensin homolog

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

NCBI chr 9:81,308,058...81,412,386
Ensembl chr 9:81,309,099...81,409,146

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RB transcriptional corepressor 1

CTD Direct Evidence: marker/mechanism

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

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solute carrier family 19 member 1

CTD Direct Evidence: marker/mechanism

NCBI chr 2:89,188,171...89,232,081
Ensembl chr 2:89,188,733...89,209,281

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small nuclear ribonucleoprotein polypeptide E

severity

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

NCBI chr25:25,474,620...25,483,427

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TAL bHLH transcription factor 1, erythroid differentiation factor

NCBI chr20:85,681,247...85,697,887
Ensembl chr20:85,688,155...85,694,829

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transcription factor 3

CTD Direct Evidence: marker/mechanism

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

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transcobalamin 2

protein:altered activity:plasma:

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

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

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transmembrane 9 superfamily member 2

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

NCBI chr 3:78,143,850...78,217,461
Ensembl chr 3:78,144,078...78,216,828

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tumor protein p53

CTD Direct Evidence: marker/mechanism

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

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thiopurine S-methyltransferase

no_association
treatment

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

PMID:17164697 PMID:22009189 PMID:24499706

RGD:10766474 RGD:11038720 RGD:11038723

NCBI chr17:53,987,561...54,012,647
Ensembl chr17:53,987,559...54,014,650

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tetratricopeptide repeat domain 12

DNA:hypermethylation:5'end:CpG dinucleotide

NCBI chr 1:104,675,076...104,742,326
Ensembl chr 1:104,675,768...104,731,843

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thymidylate synthetase

treatment

DNA:repeats: : rs347430033(human)

NCBI chr18:60,030,640...60,043,297
Ensembl chr18:60,030,658...60,041,856

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X-ray repair cross complementing 1

susceptibility
no_association

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

PMID:19101034 PMID:21983886

RGD:11252110 RGD:11252192

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

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

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cytochrome P450 family 2 subfamily B member 6

susceptibility

DNA:polymorphism:G15631T

NCBI chr 6:35,392,699...35,418,171
Ensembl chr 6:35,393,342...35,418,106

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fibroblast growth factor receptor 1

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

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

NCBI chr 8:36,426,116...36,485,683
Ensembl chr 8:36,427,110...36,485,508

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interleukin 7 receptor

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

PMID:22897847 PMID:22955920

NCBI chr 4:34,701,724...34,724,241
Ensembl chr 4:34,701,531...34,721,361

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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 chr12:74,345,243...74,372,778
Ensembl chr12:74,346,706...74,372,729

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

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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 chr12:74,421,243...74,566,766
Ensembl chr12:74,421,016...74,566,710

G

Janus kinase 3

ClinVar Annotator: match by term: LYMPHOMATOUS ALL

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

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

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cytokine receptor like factor 2

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

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

adenosine deaminase deficiency

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

acyl-CoA thioesterase 8

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

PMID:26255240 PMID:26376800 PMID:28492532

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

G

adenosine deaminase

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

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

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

G

cellular communication network factor 5

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

PMID:26255240 PMID:26376800 PMID:28492532

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

G

CD247 molecule

ClinVar Annotator: match by term: Bubble boy disease

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

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

G

CD3g molecule

ClinVar Annotator: match by term: Bubble boy disease

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

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

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CD40 molecule

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

PMID:26255240 PMID:26376800 PMID:28492532

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

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cadherin 22

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

PMID:26255240 PMID:26376800 PMID:28492532

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

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cathepsin A

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

PMID:26255240 PMID:26376800 PMID:28492532

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

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dysbindin domain containing 2

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

PMID:26255240 PMID:26376800 PMID:28492532

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

G

deoxynucleotidyltransferase terminal interacting protein 1

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

PMID:26255240 PMID:26376800 PMID:28492532

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

G

engulfment and cell motility 2

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

PMID:26255240 PMID:26376800 PMID:28492532

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

G

fat storage inducing transmembrane protein 2

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

PMID:26255240 PMID:26376800 PMID:28492532

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

G

ganglioside induced differentiation associated protein 1 like 1

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

PMID:26255240 PMID:26376800 PMID:28492532

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

G

gametocyte specific factor 1 like

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

PMID:26255240 PMID:26376800 PMID:28492532

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

G

hepatocyte nuclear factor 4 alpha

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

PMID:26255240 PMID:26376800 PMID:28492532

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

G

intraflagellar transport 52

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

PMID:26255240 PMID:26376800 PMID:28492532

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

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Janus kinase 3

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

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

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

G

junctophilin 2

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

PMID:26255240 PMID:26376800 PMID:28492532

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

G

potassium two pore domain channel subfamily K member 15

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

PMID:26255240 PMID:26376800 PMID:28492532

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

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potassium voltage-gated channel modifier subfamily S member 1

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

PMID:26255240 PMID:26376800 PMID:28492532

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

G

semenogelin 1

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

PMID:26255240 PMID:26376800 PMID:28492532

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

G

myosin-7

ClinVar Annotator: match by term: Bubble boy disease

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

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

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matrilin 4

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

PMID:26255240 PMID:26376800 PMID:28492532

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

G

matrix metallopeptidase 9

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

PMID:26255240 PMID:26376800 PMID:28492532

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

G

MYB proto-oncogene like 2

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

PMID:26255240 PMID:26376800 PMID:28492532

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

G

nuclear receptor coactivator 5

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

PMID:26255240 PMID:26376800 PMID:28492532

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

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neuralized E3 ubiquitin protein ligase 2

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

PMID:26255240 PMID:26376800 PMID:28492532

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

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osteoclast stimulatory transmembrane protein

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

PMID:26255240 PMID:26376800 PMID:28492532

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

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oxidative stress responsive serine rich 1

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

PMID:26255240 PMID:26376800 PMID:28492532

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

G

poly(A) binding protein cytoplasmic 1 like

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

PMID:26255240 PMID:26376800 PMID:28492532

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

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

G

peptidase inhibitor 3

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

PMID:26255240 PMID:26376800 PMID:28492532

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

G

phosphatidylinositol glycan anchor biosynthesis class T

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

PMID:26255240 PMID:26376800 PMID:28492532

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

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

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

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

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

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

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

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

G

semenogelin 2

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

PMID:26255240 PMID:26376800 PMID:28492532

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

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solute carrier family 12 member 5

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

PMID:26255240 PMID:26376800 PMID:28492532

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

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

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solute carrier family 2 member 10

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

PMID:26255240 PMID:26376800 PMID:28492532

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

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solute carrier family 35 member C2

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

PMID:26255240 PMID:26376800 PMID:28492532

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

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secretory leukocyte peptidase inhibitor

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

PMID:26255240 PMID:26376800 PMID:28492532

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

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sorting nexin family member 21

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

PMID:26255240 PMID:26376800 PMID:28492532

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

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spermatogenesis associated 25

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

PMID:26255240 PMID:26376800 PMID:28492532

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

G

serine peptidase inhibitor, Kunitz type 3

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

PMID:26255240 PMID:26376800 PMID:28492532

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

G

serine peptidase inhibitor, Kunitz type 4

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

PMID:26255240 PMID:26376800 PMID:28492532

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

G

serine/threonine kinase 4

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

PMID:26255240 PMID:26376800 PMID:28492532

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

G

SYS1 golgi trafficking protein

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

PMID:26255240 PMID:26376800 PMID:28492532

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

G

troponin C2, fast skeletal type

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

PMID:26255240 PMID:26376800 PMID:28492532

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

G

translocase of outer mitochondrial membrane 34

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

PMID:26255240 PMID:26376800 PMID:28492532

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

G

TOX high mobility group box family member 2

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

PMID:26255240 PMID:26376800 PMID:28492532

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

G

TP53 regulating kinase

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

PMID:26255240 PMID:26376800 PMID:28492532

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

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

G

alpha tocopherol transfer protein like

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

PMID:26255240 PMID:26376800 PMID:28492532

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

G

ubiquitin conjugating enzyme E2 C

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

PMID:26255240 PMID:26376800 PMID:28492532

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

G

WAP four-disulfide core domain 10A

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

PMID:26255240 PMID:26376800 PMID:28492532

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

G

WAP four-disulfide core domain 10B

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

PMID:26255240 PMID:26376800 PMID:28492532

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

G

WAP four-disulfide core domain 12

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

PMID:26255240 PMID:26376800 PMID:28492532

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

G

WAP four-disulfide core domain 13

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

PMID:26255240 PMID:26376800 PMID:28492532

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

G

WAP four-disulfide core domain 2

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

PMID:26255240 PMID:26376800 PMID:28492532

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

G

WAP four-disulfide core domain 3

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

PMID:26255240 PMID:26376800 PMID:28492532

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

G

WAP four-disulfide core domain 5

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

PMID:26255240 PMID:26376800 PMID:28492532

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

G

WAP four-disulfide core domain 6

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

PMID:26255240 PMID:26376800 PMID:28492532

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

G

WAP four-disulfide core domain 8

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

PMID:26255240 PMID:26376800 PMID:28492532

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

G

WAP four-disulfide core domain 9

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

PMID:26255240 PMID:26376800 PMID:28492532

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

G

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

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

PMID:26255240 PMID:26376800 PMID:28492532

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

G

zinc finger protein 334

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

PMID:26255240 PMID:26376800 PMID:28492532

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

G

zinc finger protein 335

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

PMID:26255240 PMID:26376800 PMID:28492532

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

G

zinc finger SWIM-type containing 1

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

PMID:26255240 PMID:26376800 PMID:28492532

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

G

zinc finger SWIM-type containing 3

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

PMID:26255240 PMID:26376800 PMID:28492532

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

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 chr16:70,226,824...70,237,000

G

bone morphogenetic protein 6

CTD Direct Evidence: marker/mechanism

NCBI chr17:64,279,243...64,436,356
Ensembl chr17:64,280,609...64,435,382

G

caspase recruitment domain family member 11

CTD Direct Evidence: marker/mechanism

G

C-C motif chemokine receptor 4

CTD Direct Evidence: marker/mechanism

NCBI chr15:77,435,195...77,439,164
Ensembl chr15:77,437,265...77,438,347

G

C-C motif chemokine receptor 7

CTD Direct Evidence: marker/mechanism

NCBI chr16:65,620,632...65,632,394
Ensembl chr16:65,620,665...65,632,984

G

CD163 molecule

disease_progression

protein:increased expression:lymph node tumor (human)

NCBI chr11:7,501,562...7,536,332
Ensembl chr11:7,501,150...7,536,295

G

CD274 molecule

disease_progression

NCBI chr12:74,038,844...74,060,662
Ensembl chr12:74,041,767...74,056,806

G

CD28 molecule

CTD Direct Evidence: marker/mechanism

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

G

CD68 molecule

disease_progression

protein:increased expression:lymph node tumor (human)

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

G

CD80 molecule

NCBI chr22:61,258,281...61,294,772

G

CD86 molecule

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

G

casein kinase 1 alpha 1

CTD Direct Evidence: marker/mechanism

NCBI chr23:52,111,500...52,169,043
Ensembl chr23:52,114,053...52,168,998

G

casein kinase 2 alpha 1

CTD Direct Evidence: marker/mechanism

NCBI chr 2:55,982,259...56,047,023

G

casein kinase 2 beta

CTD Direct Evidence: marker/mechanism

NCBI chr17:40,354,520...40,359,136
Ensembl chr17:40,352,367...40,358,401

G

cytotoxic T-lymphocyte associated protein 4

CTD Direct Evidence: marker/mechanism

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

G

forkhead box P3

disease_progression

CTD Direct Evidence: marker/mechanism

PMID:23797717 PMID:23962110

NCBI chr X:46,349,890...46,365,133

G

FYN proto-oncogene, Src family tyrosine kinase

CTD Direct Evidence: marker/mechanism

NCBI chr13:61,988,265...62,218,756
Ensembl chr13:62,159,874...62,219,672

G

GATA binding protein 3

CTD Direct Evidence: marker/mechanism

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

G

G protein-coupled receptor 183

CTD Direct Evidence: marker/mechanism

NCBI chr 3:77,952,689...77,966,317
Ensembl chr 3:77,953,212...77,954,297

G

heterogeneous nuclear ribonucleoprotein A2/B1

CTD Direct Evidence: marker/mechanism

NCBI chr21:32,167,126...32,178,031
Ensembl chr21:32,167,337...32,176,980

G

inducible T cell costimulator

CTD Direct Evidence: marker/mechanism

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

G

interferon alpha 2

CTD Direct Evidence: therapeutic

PMID:12560223 PMID:17077332

NCBI chr12:58,468,018...58,469,825

G

interferon gamma

treatment

CTD Direct Evidence: marker/mechanism

PMID:8800741 PMID:23962110

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

G

IKAROS family zinc finger 2

CTD Direct Evidence: marker/mechanism

NCBI chr10:98,750,782...98,909,061
Ensembl chr10:98,759,037...98,909,007

G

interleukin 10

CTD Direct Evidence: marker/mechanism

PMID:8704212 PMID:23962110

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

G

interleukin 2

CTD Direct Evidence: marker/mechanism

NCBI chr 7:69,729,635...69,736,279
Ensembl chr 7:69,730,282...69,734,969

G

interleukin 4

CTD Direct Evidence: marker/mechanism

NCBI chr23:35,492,158...35,501,349
Ensembl chr23:35,492,939...35,501,258

G

interleukin 5

disease_progression

protein:increased expression:serum

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

G

interleukin 6

protein:increased expression:serum (human)

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

G

interferon regulatory factor 4

CTD Direct Evidence: marker/mechanism

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

G

Janus kinase 3

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

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

G

MYB proto-oncogene, transcription factor

disease_progression

mRNA:splice variants:CD4+ T cell:

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

G

notch receptor 1

DNA:mutations:multiple (human)

NCBI chr12:1,656,815...1,707,566
Ensembl chr12:1,656,918...1,709,585

G

NRAS proto-oncogene, GTPase

disease_progression

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

G

phospholipase C gamma 1

CTD Direct Evidence: marker/mechanism

NCBI chr 2:22,599,547...22,638,394

G

protein kinase C beta

CTD Direct Evidence: marker/mechanism

NCBI chr 5:21,558,608...21,940,536
Ensembl chr 5:21,558,441...21,943,864

G

signal transducer and activator of transcription 3

CTD Direct Evidence: marker/mechanism

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

G

telomeric repeat binding factor 2

CTD Direct Evidence: marker/mechanism

NCBI chr 5:58,019,422...58,051,819
Ensembl chr 5:58,019,468...58,050,802

G

T cell leukemia homeobox 1

CTD Direct Evidence: marker/mechanism

PMID:1683261 PMID:1717256

NCBI chr 9:94,147,410...94,155,388
Ensembl chr 9:94,149,126...94,154,520

G

TNF superfamily member 8

CTD Direct Evidence: marker/mechanism

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

G

tumor protein p73

CTD Direct Evidence: marker/mechanism

NCBI chr20:127,958,002...128,035,792
Ensembl chr20:127,958,809...128,013,691

G

vav guanine nucleotide exchange factor 1

CTD Direct Evidence: marker/mechanism

NCBI chr 6:6,337,255...6,415,851

agammaglobulinemia

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

B cell linker

susceptibility

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

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

G

Bruton tyrosine kinase

susceptibility

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

PMID:8162018 PMID:10352268

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

G

CD19 molecule

CTD Direct Evidence: marker/mechanism

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

G

CD79a molecule

CTD Direct Evidence: marker/mechanism

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

G

CD79b molecule

CTD Direct Evidence: marker/mechanism

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

G

leucine rich repeat containing 8 VRAC subunit A

CTD Direct Evidence: marker/mechanism

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

G

transcription factor 3

CTD Direct Evidence: marker/mechanism

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

agammaglobulinemia 1

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

Bruton tyrosine kinase

ClinVar Annotator: match by term: Autosomal recessive agammaglobulinemia 1

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

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

G

CD79a molecule

ClinVar Annotator: match by term: Autosomal recessive agammaglobulinemia 1

PMID:25741868 PMID:28492532

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

agammaglobulinemia 10

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

Spi-1 proto-oncogene

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

PMID:25741868 PMID:33951726

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

agammaglobulinemia 2

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

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

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

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

G

chromosome unknown C22orf15 homolog

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

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

G

derlin 3

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

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

G

uncharacterized LOC103223018

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

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

G

macrophage migration inhibitory factor

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

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

G

matrix metallopeptidase 11

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

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

G

solute carrier family 2 member 11

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

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

G

SWI/SNF related BAF chromatin remodeling complex subunit B1

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

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

G

V-set pre-B cell surrogate light chain 3

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

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

G

zinc finger protein 70

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

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

agammaglobulinemia 3

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

CD79a molecule

ClinVar Annotator: match by term: AGAMMAGLOBULINEMIA, 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 6:36,078,057...36,089,367

G

ribosomal protein S19

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

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

agammaglobulinemia 4

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

aldehyde dehydrogenase 18 family member A1

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

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

G

B cell linker

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

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

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

G

coiled-coil and C2 domain containing 2B

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

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

G

cyclin J

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

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

G

ectonucleoside triphosphate diphosphohydrolase 1

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

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

G

tectonic family member 3

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

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

G

zinc finger protein 518A

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

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

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

agammaglobulinemia 5

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

leucine rich repeat containing 8 VRAC subunit A

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

PMID:24033266 PMID:25741868 PMID:28492532

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

agammaglobulinemia 6

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

CD79b molecule

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

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

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

agammaglobulinemia 7

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

phosphoinositide-3-kinase regulatory subunit 1

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

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

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

Agammaglobulinemia 8

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

transcription factor 3

ClinVar Annotator: match by term: TCF3-related condition

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

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

agammaglobulinemia 8A

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

transcription factor 3

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

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

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

agammaglobulinemia 8B

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

transcription factor 3

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

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

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

agammaglobulinemia 9

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

solute carrier family 39 member 7

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

PMID:25741868 PMID:28492532 PMID:30718914

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

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

G

heat shock protein 90 alpha family class A member 1

CTD Direct Evidence: marker/mechanism

NCBI chr24:80,016,352...80,019,130
Ensembl chr24:80,016,232...80,019,120

G

interferon regulatory factor 4

DNA:translocation

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

G

JunB proto-oncogene, AP-1 transcription factor subunit

NCBI chr 6:11,479,108...11,480,942
Ensembl chr 6:11,479,407...11,480,450

G

RELA proto-oncogene, NF-kB subunit

CTD Direct Evidence: marker/mechanism

NCBI chr 1:8,576,059...8,585,561
Ensembl chr 1:8,576,542...8,586,516

G

signal transducer and activator of transcription 3

CTD Direct Evidence: marker/mechanism

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

G

TNF receptor superfamily member 8

CTD Direct Evidence: marker/mechanism

PMID:10908157 PMID:17261581

NCBI chr20:119,656,183...119,736,151
Ensembl chr20:119,657,614...119,715,078

G

twist family bHLH transcription factor 1

CTD Direct Evidence: marker/mechanism

NCBI chr21:39,040,178...39,042,384
Ensembl chr21:39,040,547...39,041,146

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 7:53,193,824...53,326,813
Ensembl chr 7:53,193,941...53,326,942

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:25741868 More...

NCBI chr 9:82,358,937...82,376,289
Ensembl chr 9:82,359,086...82,372,446

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 chr 9:82,243,416...82,281,308
Ensembl chr 9:82,243,230...82,281,012

G

ankyrin repeat domain 45

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

PMID:22857792 PMID:25451160 PMID:28492532

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

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

G

caspase 8

CTD Direct Evidence: marker/mechanism

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

G

centromere protein L

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

PMID:22857792 PMID:25451160 PMID:28492532

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

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 chr 9:82,632,151...82,634,101
Ensembl chr 9:82,633,004...82,633,819

G

chromosome unknown C1orf105 homolog

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

PMID:22857792 PMID:25451160 PMID:28492532

NCBI chr25:56,686,755...56,735,766

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

G

dynamin 3

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

PMID:22857792 PMID:25451160 PMID:28492532

NCBI chr25:56,735,877...57,285,557
Ensembl chr25:56,746,215...57,285,498

G

Fas ligand

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 chr25:56,488,572...56,496,469
Ensembl chr25:56,489,417...56,496,251

G

interferon induced protein with tetratricopeptide repeats 1

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

NCBI chr 9:82,778,546...82,797,678
Ensembl chr 9:82,785,898...82,798,621

G

interferon induced protein with tetratricopeptide repeats 1B

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

NCBI chr 9:82,771,077...82,778,696

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 chr 9:82,711,647...82,718,983
Ensembl chr 9:82,711,612...82,718,973

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 chr 9:82,738,747...82,750,134
Ensembl chr 9:82,743,001...82,751,309

G

interferon induced protein with tetratricopeptide repeats 5

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

NCBI chr 9:82,801,437...82,806,890
Ensembl chr 9:82,800,825...82,805,599

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

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 chr 9:82,639,220...82,677,479
Ensembl chr 9:82,638,621...82,677,488

G

lipase F, gastric type

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

NCBI chr 9:82,095,036...82,107,539
Ensembl chr 9:82,095,601...82,106,765

G

lipase family member J

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

NCBI chr 9:82,032,074...82,052,232
Ensembl chr 9:82,035,967...82,052,166

G

lipase family member K

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

NCBI chr 9:82,146,875...82,176,568
Ensembl chr 9:82,147,217...82,177,349

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 chr 9:82,212,905...82,243,055
Ensembl chr 9:82,224,603...82,242,574

G

lipase family member N

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

PMID:10875918 PMID:22237435 PMID:28492532

NCBI chr 9:82,182,344...82,201,550
Ensembl chr 9:82,185,101...82,201,549

G

roquin-1

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

PMID:22857792 PMID:25451160 PMID:28492532

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

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 chr25:57,323,818...57,344,501
Ensembl chr25:57,329,301...57,344,867

G

matrix metallopeptidase 9

disease_progression

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

G

myocilin

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

PMID:22857792 PMID:25451160 PMID:28492532

NCBI chr25:57,458,615...57,475,329
Ensembl chr25:57,459,374...57,475,322

G

NRAS proto-oncogene, GTPase

CTD Direct Evidence: marker/mechanism

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

G

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 chr25:56,711,459...56,714,109
Ensembl chr25:56,712,941...56,713,834

G

peroxiredoxin 6

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

PMID:22857792 PMID:25451160 PMID:28492532

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

G

renalase, FAD dependent amine oxidase

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

NCBI chr 9:81,725,115...82,029,361

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

G

solute carrier family 16 member 12

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

NCBI chr 9:82,817,476...82,917,004
Ensembl chr 9:82,818,994...82,916,837

G

solute carrier family 9 member C2 (putative)

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

PMID:22857792 PMID:25451160 PMID:28492532

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

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 chr 9:82,303,521...82,347,235

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 chr25:56,541,074...56,623,086
Ensembl chr25:56,541,038...56,623,201

G

TNF superfamily member 18

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

PMID:22857792 PMID:25451160 PMID:28492532

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

G

TNF superfamily member 4

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

PMID:22857792 PMID:25451160 PMID:28492532

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

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 chr25:57,381,143...57,421,886
Ensembl chr25:57,384,757...57,421,893

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

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

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

G

alsin Rho guanine nucleotide exchange factor ALS2

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

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

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

G

bone morphogenetic protein receptor type 2

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

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

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

G

C2 calcium dependent domain containing 6

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

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

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

G

calcium responsive transcription factor

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

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

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

G

caspase 10

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

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

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

G

caspase 8

ClinVar Annotator: match by term: 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 chr10:86,888,654...86,944,159
Ensembl chr10:86,916,527...86,943,829

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

G

cyclin dependent kinase 15

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

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

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

G

CASP8 and FADD like apoptosis regulator

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

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

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

G

cytotoxic T-lymphocyte associated protein 4

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

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

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

G

cytochrome P450 family 20 subfamily A member 1

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

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

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

G

family with sequence similarity 117 member B

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

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

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

G

flagellum associated containing coiled-coil domains 1

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

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

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

G

frizzled class receptor 7

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

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

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

G

islet cell autoantigen 1 like

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

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

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

G

inducible T cell costimulator

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

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

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

G

MAGUK p55 scaffold protein 4

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

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

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

G

neurobeachin like 1

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

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

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

G

NADH:ubiquinone oxidoreductase subunit B3

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

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

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

G

NOP58 ribonucleoprotein

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

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

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

G

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

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

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

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

G

STE20 related adaptor beta

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

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

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

G

small ubiquitin like modifier 1

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

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

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

G

transmembrane protein 237

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

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

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

G

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

G

WD repeat domain 12

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

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

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

autoimmune lymphoproliferative syndrome type 3

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

protein kinase C delta

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

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

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

G

RFT1 homolog

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

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

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

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

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

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 chr25:56,488,572...56,496,469
Ensembl chr25:56,489,417...56,496,251

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

G

alsin Rho guanine nucleotide exchange factor ALS2

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

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

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

G

bone morphogenetic protein receptor type 2

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

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

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

G

C2 calcium dependent domain containing 6

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

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

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

G

calcium responsive transcription factor

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

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

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

G

caspase 10

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

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

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

G

caspase 8

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

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

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

G

CD28 molecule

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

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

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

G

cyclin dependent kinase 15

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

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

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

G

CASP8 and FADD like apoptosis regulator

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

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

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

G

cytotoxic T-lymphocyte associated protein 4

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

G

cytochrome P450 family 20 subfamily A member 1

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

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

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

G

family with sequence similarity 117 member B

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

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

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

G

flagellum associated containing coiled-coil domains 1

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

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

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

G

frizzled class receptor 7

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

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

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

G

islet cell autoantigen 1 like

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

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

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

G

inducible T cell costimulator

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

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

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

G

MAGUK p55 scaffold protein 4

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

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

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

G

neurobeachin like 1

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

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

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

G

NADH:ubiquinone oxidoreductase subunit B3

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

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

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

G

NOP58 ribonucleoprotein

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

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

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

G

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

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

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

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

G

STE20 related adaptor beta

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

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

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

G

small ubiquitin like modifier 1

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

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

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

G

transmembrane protein 237

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

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

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

G

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

G

WD repeat domain 12

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

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

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

autosomal recessive osteopetrosis 7

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

TNF receptor superfamily member 11a

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

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

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

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 5:13,378,282...13,410,307
Ensembl chr 5:13,378,401...13,406,541

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

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

B-Cell Chronic Lymphocytic Leukemia

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

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

susceptibility

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

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

G

acyl-CoA oxidase like

CTD Direct Evidence: marker/mechanism

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

G

activation induced cytidine deaminase

disease_progression

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

G

apolipoprotein E

disease_progression

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

G

ATM serine/threonine kinase

CTD Direct Evidence: marker/mechanism

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

G

BCL11 transcription factor A

DNA:translocation:5' utr: (human)

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

G

BCL2 apoptosis regulator

severity
no_association
treatment

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

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

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

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

G

Bcl2 modifying factor

CTD Direct Evidence: marker/mechanism

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

G

B-Raf proto-oncogene, serine/threonine kinase

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

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

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

G

Bruton tyrosine kinase

treatment

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

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

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

G

Cbl proto-oncogene

severity

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

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

G

coiled-coil domain containing 50

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

G

CD40 molecule

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

G

CD40 ligand

mouse-human chimeric gene in human

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

G

CD5 molecule

CTD Direct Evidence: marker/mechanism

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

G

CD79b molecule

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

PMID:9269755 PMID:10090943 PMID:10552962

RGD:11250403 RGD:151665190 RGD:151665202

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

G

CD86 molecule

severity

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

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

G

cytoplasmic polyadenylation element binding protein 1

CTD Direct Evidence: marker/mechanism

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

G

cytotoxic T-lymphocyte associated protein 4

protein:increased expression:T cell

PMID:15914560 PMID:16094420

RGD:11344923 RGD:11352246

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

G

chromosome unknown C11orf21 homolog

CTD Direct Evidence: marker/mechanism

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

G

dyskerin pseudouridine synthase 1

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

G

DNA methyltransferase 3 beta

mRNA:decreased expression: B cell

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

G

ERCC excision repair 2, TFIIH core complex helicase subunit

severity

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

PMID:19484764 PMID:22739018

RGD:11252203 RGD:11252204

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

G

FERM, ARH/RhoGEF and pleckstrin domain protein 2

CTD Direct Evidence: marker/mechanism

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

G

F-box and WD repeat domain containing 7

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

PMID:25741868 PMID:26619011

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

G

Fc fragment of IgG receptor IIIa

no_association

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

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

G

HRas proto-oncogene, GTPase

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

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

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

G

intercellular adhesion molecule 1

severity

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

G

interferon gamma

susceptibility

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

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

G

interleukin 10

no_association
disease_progression

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

PMID:10638947 PMID:19573080 PMID:22945689

RGD:11041895 RGD:11049165 RGD:11049174

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

G

interleukin 19

CTD Direct Evidence: marker/mechanism

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

G

interleukin 1 alpha

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

G

interleukin 1 beta

severity

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

PMID:10870116 PMID:18271063

RGD:11051967 RGD:11522755

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

G

interleukin 1 receptor antagonist

protein:decreased expression:plasma:

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

G

interleukin 6

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

PMID:10870116 PMID:18006695

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

G

interferon regulatory factor 4

disease_progression

CTD Direct Evidence: marker/mechanism

PMID:12079517 PMID:12393648 PMID:18758461

RGD:11526160 RGD:11530024

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

G

integrin subunit alpha 4

CTD Direct Evidence: marker/mechanism

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

G

KRAS proto-oncogene, GTPase

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

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

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

G

lymphoid enhancer binding factor 1

CTD Direct Evidence: marker/mechanism

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

G

leukocyte immunoglobulin like receptor A4

CTD Direct Evidence: marker/mechanism

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

G

nuclear body protein SP140

CTD Direct Evidence: marker/mechanism

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

G

TNF superfamily member 13

protein:increased expression:serum

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

G

neuroendocrine secretory protein 55

disease_progression

DNA:polymorphism:393T>C (human)

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

G

leucine rich repeat containing 56

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

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

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

G

membrane spanning 4-domains A1

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

G

methylenetetrahydrofolate reductase

CTD Direct Evidence: marker/mechanism

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

G

MYD88 innate immune signal transduction adaptor

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

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

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

G

NRAS proto-oncogene, GTPase

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

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

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

G

purinergic receptor P2X 7

CTD Direct Evidence: marker/mechanism

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

G

platelet and endothelial cell adhesion molecule 1

severity

protein:increased expression:B cell (human)

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

G

phospholipase C gamma 2

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

PMID:24869598 PMID:28492532

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

G

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

CTD Direct Evidence: marker/mechanism

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

G

DNA polymerase beta

CTD Direct Evidence: marker/mechanism

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

G

protein phosphatase 2 regulatory subunit B'gamma

CTD Direct Evidence: marker/mechanism

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

G

protein kinase D2

CTD Direct Evidence: marker/mechanism

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

G

prostaglandin-endoperoxide synthase 2

CTD Direct Evidence: marker/mechanism

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

G

protein tyrosine phosphatase non-receptor type 11

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

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

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

G

glutaminyl-peptide cyclotransferase

CTD Direct Evidence: marker/mechanism

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

G

RB transcriptional corepressor like 2

CTD Direct Evidence: marker/mechanism

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

G

splicing factor 3b subunit 1

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

PMID:23634996 PMID:25741868 PMID:26619011

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

G

splicing factor 3b subunit 2

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

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

G

telomerase reverse transcriptase

disease_progression

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

G

transferrin receptor

CTD Direct Evidence: marker/mechanism

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

G

thrombomodulin

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

G

tumor necrosis factor

disease_progression

protein:increased expression:bone marrow, blood, lymphocyte

PMID:12010662 PMID:22945689

RGD:10449463 RGD:11041895

G

TNF receptor superfamily member 10a

susceptibility

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

PMID:15531454 PMID:16217763

RGD:11038717 RGD:11038718

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

G

TNF receptor superfamily member 11a

CTD Direct Evidence: marker/mechanism

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

G

TNF superfamily member 11

CTD Direct Evidence: marker/mechanism

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

G

TNF superfamily member 8

CTD Direct Evidence: marker/mechanism

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

G

DNA topoisomerase II binding protein 1

CTD Direct Evidence: marker/mechanism

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

G

tumor protein p53

disease_progression

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

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

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

G

vitamin D receptor

CTD Direct Evidence: marker/mechanism

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

G

exportin 1

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

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

G

X-ray repair cross complementing 1

no_association
severity

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

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

B-cell lymphoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

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

susceptibility

DNA:SNP: :rs6857600(human)

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

G

activation induced cytidine deaminase

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

G

BCL6 transcription repressor

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

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

G

bromodomain containing 2

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

G

Bruton tyrosine kinase

treatment

human cell in a mouse model

PMID:25662332 PMID:28348046

RGD:11040764 RGD:124713554

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

G

chromobox 7

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

G

CD40 molecule

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

G

colony stimulating factor 2

treatment

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

G

colony stimulating factor 3

CTD Direct Evidence: therapeutic

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

G

ELL associated factor 2

CTD Direct Evidence: marker/mechanism

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

G

enhancer of zeste 2 polycomb repressive complex 2 subunit

treatment
severity

PMID:23982173 PMID:29456795

RGD:10755356 RGD:126781726

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

G

interleukin 21 receptor

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

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

G

Janus kinase 3

CTD Direct Evidence: marker/mechanism

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

G

lysine acetyltransferase 5

severity

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

G

galectin 1

protein:increased expression:primary tumor (rat)

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

G

NRAS proto-oncogene, GTPase

CTD Direct Evidence: marker/mechanism

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

G

prostaglandin-endoperoxide synthase 2

CTD Direct Evidence: marker/mechanism

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

G

protein tyrosine phosphatase non-receptor type 1

CTD Direct Evidence: marker/mechanism

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

G

signal transducer and activator of transcription 5A

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

G

TNF superfamily member 8

CTD Direct Evidence: marker/mechanism

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

G

TNF superfamily member 9

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

B-lymphoblastic leukemia/lymphoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ABL proto-oncogene 1, non-receptor tyrosine kinase

treatment

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

G

aryl hydrocarbon receptor

CTD Direct Evidence: marker/mechanism

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

G

activating transcription factor 7 interacting protein

CTD Direct Evidence: marker/mechanism

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

G

BCL2 like 1

severity

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

G

BCR activator of RhoGEF and GTPase

BCR/ABL fusion

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

G

bromodomain containing 2

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

G

cellular communication network factor 2

CTD Direct Evidence: marker/mechanism

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

G

cyclin D1

mRNA:increased expression:B cell (mouse)

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

G

cytochrome P450 family 3 subfamily A member 5

treatment

DNA:polymorphisms: :

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

G

double homeobox 4

CTD Direct Evidence: marker/mechanism

G

ETS variant transcription factor 6

CTD Direct Evidence: marker/mechanism

PMID:15217836 PMID:24413735 PMID:25807284

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

G

coagulation factor XIII A chain

protein:increased expression:B lymphoblast:

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

G

coagulation factor III, tissue factor

treatment

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

G

fumarate hydratase

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

PMID:25741868 PMID:28492532

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

G

fms related receptor tyrosine kinase 3

mRNA,protein:increased expression:bone marrow:

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

G

GATA binding protein 3

CTD Direct Evidence: marker/mechanism

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

G

indoleamine 2,3-dioxygenase 1

CTD Direct Evidence: marker/mechanism

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

G

IKAROS family zinc finger 1

disease_progression

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

PMID:22699455 PMID:24141364

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

G

interleukin 5

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

G

interferon regulatory factor 4

PMID:20585039 PMID:21818355 PMID:25006123

RGD:11526159 RGD:11530020 RGD:11530030

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

G

interferon regulatory factor 8

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

G

intestine specific homeobox

CTD Direct Evidence: marker/mechanism

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

G

TNF superfamily member 13

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

G

cytokine receptor like factor 2

CTD Direct Evidence: marker/mechanism

G

MAX dimerization protein MGA

CTD Direct Evidence: marker/mechanism

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

G

MYB proto-oncogene, transcription factor

disease_progression

mRNA:splice variants:cds:

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

G

MYC proto-oncogene, bHLH transcription factor

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

G

paired box 5

CTD Direct Evidence: marker/mechanism

PMID:24013638 PMID:30643249

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

G

platelet derived growth factor receptor alpha

treatment

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

G

RB transcriptional corepressor 1

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

PMID:25741868 PMID:28492532

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

G

RUNX family transcription factor 1

onset

DNA:amplification

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

G

signal transducer and activator of transcription 3

CTD Direct Evidence: marker/mechanism

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

G

signal transducer and activator of transcription 5A

protein:increased phosphorylation:bone marrow (human)

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

G

serine/threonine kinase 11

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

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

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

G

SUFU negative regulator of hedgehog signaling

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

PMID:25741868 PMID:28492532

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

G

transcription factor 3

CTD Direct Evidence: marker/mechanism

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

G

tryptophan 2,3-dioxygenase

CTD Direct Evidence: marker/mechanism

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

G

tissue factor pathway inhibitor

treatment

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

G

TNF superfamily member 8

CTD Direct Evidence: marker/mechanism

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

G

tumor protein p53

disease_progression

DNA:mutations: :

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

G

WT1 transcription factor

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

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

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

B-lymphoblastic leukemia/lymphoma MLL rearranged

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

WT1 transcription factor

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

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

B-lymphoblastic leukemia/lymphoma with BCR-ABL1

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

mutS homolog 6

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

PMID:22658618 PMID:25741868 PMID:28492532

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

B-lymphoblastic leukemia/lymphoma with ETV6-RUNX1

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

bone morphogenetic protein receptor type 1A

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

PMID:25741868 PMID:28492532 PMID:30093976

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

G

partner and localizer of BRCA2

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

PMID:25741868 PMID:28492532 PMID:33471991

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

G

RB transcriptional corepressor 1

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

PMID:25741868 PMID:28492532

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

G

RecQ like helicase 4

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

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

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

B-lymphoblastic leukemia/lymphoma with hyperdiploidy

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

Cbl proto-oncogene

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

PMID:24033266 PMID:25741868 PMID:28492532

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

B-lymphoblastic leukemia/lymphoma with hypodiploidy

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

succinate dehydrogenase complex flavoprotein subunit A

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

PMID:25741868 PMID:28492532

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

Blau syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

CYLD lysine 63 deubiquitinase

ClinVar Annotator: match by term: Blau syndrome

NCBI chr 5:36,541,022...36,600,874
Ensembl chr 5:36,541,764...36,595,417

G

nucleotide binding oligomerization domain containing 2

susceptibility

ClinVar Annotator: match by term: Blau syndrome | ClinVar Annotator: match by term: Jabs syndrome
DNA:snp:cds:p.E383G (human)
DNA:snps:cds:p.R587C, p.C495Y, p.W490L (human)
DNA:snps:cds:p.R334Q, p.R334W, p.L469F (human)
DNA:snp:cds:p.E383K (human)

OMIM
ClinVar
RGD

PMID:7825454 PMID:9124059 PMID:9536098 PMID:11385576 PMID:11385577