Immunoproliferative Disorders - Ontology Report - Rat Genome Database

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RGD DISEASE ONTOLOGY - ANNOTATIONS

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RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

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

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

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 chrNW_004624828:6,648,403...6,697,617
Ensembl chrNW_004624828:6,650,762...6,697,879

G

ring finger protein 20

disease_progression

NCBI chrNW_004624758:9,759,535...9,783,235
Ensembl chrNW_004624758:9,758,101...9,783,411

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 chrNW_004624907:2,249,323...2,263,999
Ensembl chrNW_004624907:2,250,133...2,263,947

acute lymphoblastic leukemia

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ATP binding cassette subfamily C member 2

treatment

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

PMID:24404132 PMID:25007187

RGD:11080959 RGD:11080979

NCBI chrNW_004624737:11,593,701...11,686,790
Ensembl chrNW_004624737:11,593,864...11,688,460

G

ABL proto-oncogene 1, non-receptor tyrosine kinase

CTD Direct Evidence: marker/mechanism

PMID:11984797 PMID:21898527

NCBI chrNW_004624760:4,878,811...5,032,719
Ensembl chrNW_004624760:4,878,556...5,031,491

G

activation induced cytidine deaminase

treatment

NCBI chrNW_004624860:4,912,938...4,927,846
Ensembl chrNW_004624860:4,912,656...4,926,634

G

AT-rich interaction domain 5B

CTD Direct Evidence: marker/mechanism

PMID:19684603 PMID:19684604

NCBI chrNW_004624791:1,610,169...1,785,512
Ensembl chrNW_004624791:1,610,169...1,785,477

G

aryl hydrocarbon receptor nuclear translocator

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004624772:18,949,221...19,016,672
Ensembl chrNW_004624772:18,949,108...19,015,504

G

BCL2 associated X, apoptosis regulator

NCBI chrNW_004624832:5,050,222...5,068,565
Ensembl chrNW_004624832:5,050,222...5,055,506

G

BCL2 apoptosis regulator

severity

mRNA:increased expression:bone marrow (human)

NCBI chrNW_004624792:8,854,345...9,032,727
Ensembl chrNW_004624792:8,859,522...9,031,344

G

BCL2 like 1

treatment

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

PMID:12469194 PMID:19020783

RGD:11353852 RGD:11353866

NCBI chrNW_004624741:788,445...838,513
Ensembl chrNW_004624741:789,355...839,507

G

BCR activator of RhoGEF and GTPase

NCBI chrNW_004624747:9,528,968...9,664,055
Ensembl chrNW_004624747:9,528,996...9,662,131

G

caspase 8

CTD Direct Evidence: therapeutic

NCBI chrNW_004624899:427,064...450,931
Ensembl chrNW_004624899:424,363...451,087

G

calpastatin

protein:increased expresssion:B cell

NCBI chrNW_004624743:15,265,930...15,405,904
Ensembl chrNW_004624743:15,346,837...15,403,150

G

cyclin D1

mRNA:increased expression:bone marrow (human)

NCBI chrNW_004624767:17,470,310...17,483,082
Ensembl chrNW_004624767:17,469,622...17,483,191

G

CD40 ligand

NCBI chrNW_004624808:10,472,028...10,484,407
Ensembl chrNW_004624808:10,472,572...10,484,338

G

CD46 molecule

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

NCBI chrNW_004624807:4,040,639...4,074,631

G

CD79b molecule

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

NCBI chrNW_004624849:1,429,446...1,432,835
Ensembl chrNW_004624849:1,429,912...1,432,955

G

CD86 molecule

severity

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

NCBI chrNW_004624912:350,201...432,410
Ensembl chrNW_004624912:350,157...426,712

G

cyclin dependent kinase 6

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004624809:349,453...588,986
Ensembl chrNW_004624809:349,404...579,599

G

cyclin dependent kinase inhibitor 2B

ClinVar Annotator: match by term: Acute lymphoid leukemia

NCBI chrNW_004624736:25,929,314...25,933,318
Ensembl chrNW_004624736:25,926,668...25,933,440

G

CCAAT enhancer binding protein epsilon

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004624820:9,423,725...9,425,338
Ensembl chrNW_004624820:9,423,725...9,425,338

G

complement factor B

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

NCBI chrNW_004624754:24,310,344...24,316,482
Ensembl chrNW_004624754:24,310,247...24,317,366

G

CREB binding protein

disease_progression

DNA:mutations:multiple

NCBI chrNW_004624824:1,516,481...1,655,364
Ensembl chrNW_004624824:1,517,966...1,655,329

G

cytokine receptor like factor 2

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004624834:596,067...610,333

G

colony stimulating factor 3

treatment

NCBI chrNW_004624795:3,162,999...3,167,248
Ensembl chrNW_004624795:3,163,009...3,166,594

G

chondroitin sulfate proteoglycan 4

severity

NCBI chrNW_004624894:564,252...595,048
Ensembl chrNW_004624894:561,683...594,878

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 chrNW_004624743:1,446,643...1,462,319
Ensembl chrNW_004624743:1,446,643...1,461,863

G

DNA methyltransferase 3 alpha

treatment

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

NCBI chrNW_004624738:7,481,084...7,581,332
Ensembl chrNW_004624738:7,485,842...7,581,056

G

DNA nucleotidylexotransferase

protein:increased activity:peripheral blood,bone marrow:

NCBI chrNW_004624737:7,714,577...7,755,798
Ensembl chrNW_004624737:7,714,577...7,755,605

G

euchromatic histone lysine methyltransferase 1

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004624760:271,397...463,462
Ensembl chrNW_004624760:272,493...379,780

G

euchromatic histone lysine methyltransferase 2

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004624754:24,354,271...24,368,319
Ensembl chrNW_004624754:24,354,284...24,368,638

G

endoglin

disease_progression

NCBI chrNW_004624760:7,703,979...7,735,636
Ensembl chrNW_004624760:7,703,820...7,734,457

G

epoxide hydrolase 1

susceptibility
no_association

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

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

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

NCBI chrNW_004624835:6,161,930...6,181,016
Ensembl chrNW_004624835:6,162,111...6,168,714

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 chrNW_004624907:2,288,380...2,298,909
Ensembl chrNW_004624907:2,288,423...2,298,373

G

ERCC excision repair 2, TFIIH core complex helicase subunit

no_association

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

PMID:19101034 PMID:21987080

RGD:11252192 RGD:11340201

NCBI chrNW_004624907:2,249,323...2,263,999
Ensembl chrNW_004624907:2,250,133...2,263,947

G

ETS transcription factor ERG

ClinVar Annotator: match by term: Acute lymphoid leukemia

NCBI chrNW_004624745:25,239,356...25,457,533
Ensembl chrNW_004624745:25,294,832...25,459,683

G

ETS variant transcription factor 6

ClinVar Annotator: match by term: Acute lymphoid leukemia

NCBI chrNW_004624752:25,916,942...26,131,380
Ensembl chrNW_004624752:25,913,456...26,131,164

G

enhancer of zeste 2 polycomb repressive complex 2 subunit

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

NCBI chrNW_004624800:6,781,848...6,874,221
Ensembl chrNW_004624800:6,802,901...6,874,196

G

coagulation factor III, tissue factor

NCBI chrNW_004624742:3,112,827...3,123,424
Ensembl chrNW_004624742:3,112,801...3,124,301

G

Fas cell surface death receptor

disease_progression

protein:increased expression:CD34+ bone marrow cell

PMID:9711907 PMID:10500800

RGD:11049148 RGD:11049157

NCBI chrNW_004624791:15,290,022...15,315,848
Ensembl chrNW_004624791:15,289,348...15,315,848

G

fibrinogen alpha chain

protein:increased expression:serum (human)

NCBI chrNW_004624858:5,848,817...5,856,448

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 chrNW_004624776:10,407,083...10,516,350
Ensembl chrNW_004624776:10,435,850...10,517,066

G

folylpolyglutamate synthase

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004624760:7,735,606...7,754,750
Ensembl chrNW_004624760:7,735,613...7,754,994

G

GATA binding protein 3

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004624775:2,985,077...3,014,567
Ensembl chrNW_004624775:2,994,164...3,015,392

G

growth factor independent 1B transcriptional repressor

mRNA:increased expression:blood:

NCBI chrNW_004624760:3,446,028...3,454,818
Ensembl chrNW_004624760:3,446,028...3,454,818

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 chrNW_004624818:7,937,061...8,002,798
Ensembl chrNW_004624818:7,936,932...8,003,433

G

glucose-6-phosphate isomerase

NCBI chrNW_004624794:8,826,281...8,851,614
Ensembl chrNW_004624794:8,823,449...8,851,625

G

glutathione peroxidase 1

treatment

PMID:17317918 PMID:24698347

RGD:11352774 RGD:11352812

NCBI chrNW_004624730:3,313,773...3,314,870
Ensembl chrNW_004624730:3,313,972...3,314,626

G

glutathione-disulfide reductase

NCBI chrNW_004624780:13,440,269...13,497,435
Ensembl chrNW_004624780:13,440,235...13,496,535

G

HCK proto-oncogene, Src family tyrosine kinase

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004624741:456,186...494,207
Ensembl chrNW_004624741:455,696...493,821

G

histone deacetylase 1

disease_progression

mRNA:increased expression:bone marrow,blood:

NCBI chrNW_004624764:15,510,655...15,552,020
Ensembl chrNW_004624764:15,510,866...15,552,025

G

histone deacetylase 2

disease_progression

mRNA:increased expression:bone marrow,blood:

NCBI chrNW_004624856:4,834,197...4,861,546
Ensembl chrNW_004624856:4,834,217...4,861,592

G

histone deacetylase 4

treatment

NCBI chrNW_004624847:3,846,196...4,101,537
Ensembl chrNW_004624847:3,845,858...4,101,487

G

homeostatic iron regulator

no_association

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

PMID:10627122 PMID:17107905

RGD:10755557 RGD:10755558

NCBI chrNW_004624756:821,738...831,482
Ensembl chrNW_004624756:823,947...831,376

G

hexokinase 1

protein:decreased activity:platelet

NCBI chrNW_004624754:3,594,478...3,656,231
Ensembl chrNW_004624754:3,591,090...3,659,760

G

HLF transcription factor, PAR bZIP family member

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004624795:10,520,106...10,573,206
Ensembl chrNW_004624795:10,520,044...10,573,328

G

homeobox D4

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

NCBI chrNW_004624787:13,290,250...13,296,315
Ensembl chrNW_004624787:13,290,703...13,296,311

G

isocitrate dehydrogenase (NADP(+)) 1

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004624765:7,806,560...7,825,520

G

interferon gamma

susceptibility

DNA:SNP: :rs2069727(human)

NCBI chrNW_004624802:163,261...166,534
Ensembl chrNW_004624802:163,261...166,534

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 chrNW_004624740:3,785,342...3,875,892
Ensembl chrNW_004624740:3,785,209...3,875,841

G

IKAROS family zinc finger 2

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004624765:3,016,569...3,171,443
Ensembl chrNW_004624765:3,017,571...3,164,136

G

IKAROS family zinc finger 3

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004624795:3,222,170...3,347,079
Ensembl chrNW_004624795:3,290,078...3,345,533

G

interleukin 10

treatment

protein:decreased expression:blood

PMID:15860861 PMID:21653647

RGD:11049158 RGD:11049169

NCBI chrNW_004624807:4,687,249...4,691,658
Ensembl chrNW_004624807:4,687,176...4,691,732

G

interferon regulatory factor 4

DNA:SNP:intron:rs12203592 (human)

NCBI chrNW_004624756:23,917,111...23,931,482
Ensembl chrNW_004624756:23,918,323...23,931,501

G

inosine triphosphatase

no_association
treatment

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

NCBI chrNW_004624741:4,312,363...4,341,996
Ensembl chrNW_004624741:4,312,360...4,325,825

G

lysine demethylase 2B

mRNA:increased expression:bone marrow (human)

NCBI chrNW_004624747:21,922,249...22,047,246

G

lysine demethylase 3B

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

NCBI chrNW_004624743:31,148,051...31,224,896
Ensembl chrNW_004624743:31,148,098...31,225,992

G

lysine demethylase 6A

severity

DNA:mutations:cds:multiple (human)

NCBI chrNW_004624887:1,065,173...1,279,660
Ensembl chrNW_004624887:1,065,883...1,279,186

G

lysine methyltransferase 2A

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

PMID:24736461 PMID:25730765

NCBI chrNW_004624784:13,824,507...13,912,672
Ensembl chrNW_004624784:13,824,541...13,908,077

G

KRAS proto-oncogene, GTPase

disease_progression

PMID:17910045 PMID:25917266

RGD:11060148 RGD:11060149

NCBI chrNW_004624752:13,809,741...13,847,020
Ensembl chrNW_004624752:13,809,775...13,844,166

G

LIM domain only 2

OMIM:247640 | OMIM:613065

NCBI chrNW_004624767:13,245,783...13,257,322
Ensembl chrNW_004624767:13,245,984...13,257,440

G

cytochrome P450 1B1

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004624738:19,639,215...19,647,807
Ensembl chrNW_004624738:19,638,456...19,647,497

G

HLA class II histocompatibility antigen, DQ beta 1 chain

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

PMID:9744491 PMID:22434102

RGD:11041749 RGD:11041762

NCBI chrNW_004624754:23,895,509...23,902,487
Ensembl chrNW_004624754:23,895,607...23,906,713

G

cytochrome P450 1A1

susceptibility
no_association

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

PMID:16676594 PMID:22964275 PMID:23725389

RGD:11352714 RGD:11352725 RGD:11352728

NCBI chrNW_004627988:7...1,323

G

cytochrome b-245 light chain

mRNA:increased expression:peripheral blood mononuclear cell:

NCBI chrNW_004624746:911,852...919,361
Ensembl chrNW_004624746:911,842...919,362

G

cytochrome P450 2E1

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004624737:12,335,733...12,345,278
Ensembl chrNW_004624737:12,335,681...12,345,514

G

MEFV innate immunity regulator, pyrin

susceptibility

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

NCBI chrNW_004624824:1,035,172...1,047,632
Ensembl chrNW_004624824:1,035,094...1,047,678

G

methylenetetrahydrofolate reductase

treatment
disease_progression

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

PMID:16706930 PMID:19923983 PMID:21644011

RGD:10449398 RGD:10449407

NCBI chrNW_004624818:1,184,736...1,202,708
Ensembl chrNW_004624818:1,187,869...1,199,168

G

5-methyltetrahydrofolate-homocysteine methyltransferase

susceptibility
no_association
disease_progression

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

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

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

NCBI chrNW_004624775:13,791,690...13,903,888
Ensembl chrNW_004624775:13,792,043...13,896,559

G

5-methyltetrahydrofolate-homocysteine methyltransferase reductase

susceptibility

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

PMID:17136115 PMID:23940529

RGD:11531133 RGD:11531135

NCBI chrNW_004624751:5,445,274...5,469,386
Ensembl chrNW_004624751:5,445,241...5,469,657

G

MYC proto-oncogene, bHLH transcription factor

disease_progression

NCBI chrNW_004624735:27,780,338...27,784,714
Ensembl chrNW_004624735:27,780,037...27,784,806

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 chrNW_004624744:2,013,936...2,061,726
Ensembl chrNW_004624744:2,013,922...2,061,708

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 chrNW_004624800:5,600,215...5,619,020
Ensembl chrNW_004624800:5,600,212...5,619,004

G

notch receptor 3

OMIM:247640 | OMIM:613065

NCBI chrNW_004624901:2,292,257...2,328,433
Ensembl chrNW_004624901:2,292,640...2,328,433

G

NAD(P)H quinone dehydrogenase 1

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

PMID:11774269 PMID:17332311 PMID:18444911

RGD:10769347 RGD:10769359

NCBI chrNW_004624746:16,684,620...16,698,194
Ensembl chrNW_004624746:16,684,407...16,697,479

G

NRAS proto-oncogene, GTPase

disease_progression

DNA:missense mutation:cds:

NCBI chrNW_004624772:10,358,554...10,369,371

G

nuclear receptor binding SET domain protein 2

CTD Direct Evidence: therapeutic

NCBI chrNW_004624755:25,510,329...25,588,540
Ensembl chrNW_004624755:25,509,301...25,588,204

G

5'-nucleotidase, cytosolic II

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004624831:2,374,341...2,468,819
Ensembl chrNW_004624831:2,371,804...2,529,726

G

nucleoporin 214

NCBI chrNW_004624760:4,655,347...4,738,811
Ensembl chrNW_004624760:4,655,247...4,739,298

G

P2Y receptor family member 8

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004624834:686,801...708,251

G

phosphoprotein membrane anchor with glycosphingolipid microdomains 1

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004624744:10,286,013...10,431,383
Ensembl chrNW_004624744:10,361,284...10,424,207

G

paired box 5

susceptibility

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

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

NCBI chrNW_004624930:491,220...660,476
Ensembl chrNW_004624930:491,892...667,530

G

paraoxonase 1

susceptibility

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

NCBI chrNW_004624813:1,953,796...1,979,846
Ensembl chrNW_004624813:1,949,614...1,979,882

G

PRAME nuclear receptor transcriptional regulator

severity

mRNA:increased expression:blood (human)

NCBI chrNW_004624747:8,914,226...8,927,648
Ensembl chrNW_004624747:8,913,531...8,918,222

G

PR/SET domain 14

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004624744:21,092,091...21,121,313
Ensembl chrNW_004624744:21,104,798...21,120,591

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phosphatase and tensin homolog

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

NCBI chrNW_004624791:13,975,235...14,056,900

G

RB transcriptional corepressor 1

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004624748:6,358,588...6,533,217
Ensembl chrNW_004624748:6,358,180...6,533,249

G

solute carrier family 19 member 1

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004624745:30,793,114...30,811,944
Ensembl chrNW_004624745:30,794,024...30,811,944

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small nuclear ribonucleoprotein polypeptide E

severity

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

NCBI chrNW_004624807:7,079,944...7,086,973
Ensembl chrNW_004624807:7,079,090...7,087,215

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TAL bHLH transcription factor 1, erythroid differentiation factor

NCBI chrNW_004624859:5,586,489...5,601,225
Ensembl chrNW_004624859:5,586,977...5,601,460

G

TAL bHLH transcription factor 2

NCBI chrNW_004624758:5,750,458...5,755,861
Ensembl chrNW_004624758:5,747,765...5,863,612

G

transcription factor 3

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004624828:7,090,562...7,119,970
Ensembl chrNW_004624828:7,090,605...7,121,428

G

transcobalamin 2

protein:altered activity:plasma:

NCBI chrNW_004624747:6,970,707...6,987,946
Ensembl chrNW_004624747:6,971,289...6,987,440

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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 chrNW_004624751:624,569...647,198

G

transmembrane 9 superfamily member 2

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

NCBI chrNW_004624793:11,515,047...11,644,073
Ensembl chrNW_004624793:11,511,446...11,579,008

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tumor protein p53

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004624786:10,266,316...10,282,664
Ensembl chrNW_004624786:10,263,518...10,271,218

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thiopurine S-methyltransferase

treatment
no_association

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

PMID:17164697 PMID:22009189 PMID:24499706

RGD:10766474 RGD:11038720 RGD:11038723

NCBI chrNW_004624756:8,511,275...8,532,100
Ensembl chrNW_004624756:8,511,315...8,531,745

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tetratricopeptide repeat domain 12

DNA:hypermethylation:5'end:CpG dinucleotide

NCBI chrNW_004624784:8,655,543...8,751,307
Ensembl chrNW_004624784:8,655,408...8,752,397

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thymidylate synthetase

treatment

DNA:repeats: : rs347430033(human)

NCBI chrNW_004624770:11,138,673...11,149,600
Ensembl chrNW_004624770:11,138,652...11,149,600

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X-ray repair cross complementing 1

susceptibility
no_association

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

PMID:19101034 PMID:21983886

RGD:11252110 RGD:11252192

NCBI chrNW_004624907:1,087,611...1,113,275
Ensembl chrNW_004624907:1,087,611...1,113,266

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 chrNW_004624760:4,878,811...5,032,719
Ensembl chrNW_004624760:4,878,556...5,031,491

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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

NCBI chrNW_004624834:596,067...610,333

G

fibroblast growth factor receptor 1

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

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

NCBI chrNW_004624780:5,161,245...5,212,641
Ensembl chrNW_004624780:5,161,073...5,213,870

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interleukin 7 receptor

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

PMID:22897847 PMID:22955920

NCBI chrNW_004624759:19,067,933...19,103,007
Ensembl chrNW_004624759:19,067,856...19,098,859

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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 chrNW_004624736:9,838,781...9,848,514

G

Janus kinase 1

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

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

NCBI chrNW_004624742:29,631,391...29,723,981
Ensembl chrNW_004624742:29,689,965...29,723,981

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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 chrNW_004624736:9,724,876...9,827,364
Ensembl chrNW_004624736:9,724,369...9,830,365

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Janus kinase 3

ClinVar Annotator: match by term: LYMPHOMATOUS ALL

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

NCBI chrNW_004624908:1,371,595...1,383,879
Ensembl chrNW_004624908:1,371,595...1,383,879

adenosine deaminase deficiency

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

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 chrNW_004624790:9,809,550...9,829,199
Ensembl chrNW_004624790:9,809,492...9,829,883

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 chrNW_004624790:9,744,127...9,755,685
Ensembl chrNW_004624790:9,744,078...9,755,375

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CD247 molecule

ClinVar Annotator: match by term: Bubble boy disease

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

NCBI chrNW_004624826:5,504,676...5,574,037
Ensembl chrNW_004624826:5,505,569...5,573,783

G

CD3g molecule

ClinVar Annotator: match by term: Bubble boy disease

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

NCBI chrNW_004624784:13,738,424...13,748,311
Ensembl chrNW_004624784:13,738,686...13,748,415

G

CD40 molecule

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

PMID:26255240 PMID:26376800 PMID:28492532

NCBI chrNW_004624790:8,475,640...8,485,927
Ensembl chrNW_004624790:8,476,158...8,485,856

G

cadherin 22

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

PMID:26255240 PMID:26376800 PMID:28492532

NCBI chrNW_004624790:8,369,972...8,437,595
Ensembl chrNW_004624790:8,369,964...8,438,683

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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 chrNW_004624790:8,686,027...8,692,119
Ensembl chrNW_004624790:8,686,027...8,691,898

G

dysbindin domain containing 2

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

PMID:26255240 PMID:26376800 PMID:28492532

NCBI chrNW_004624790:9,091,461...9,095,889
Ensembl chrNW_004624790:9,091,461...9,095,722

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 chrNW_004624790:8,761,077...8,789,728
Ensembl chrNW_004624790:8,761,075...8,789,711

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 chrNW_004624790:8,228,234...8,266,585
Ensembl chrNW_004624790:8,228,259...8,267,179

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 chrNW_004624790:10,150,070...10,156,194
Ensembl chrNW_004624790:10,149,601...10,153,411

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 chrNW_004624790:10,164,395...10,188,812
Ensembl chrNW_004624790:10,164,395...10,188,801

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 chrNW_004624790:10,620,586...10,621,394

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 chrNW_004624790:10,039,344...10,065,167
Ensembl chrNW_004624790:10,038,999...10,100,649

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 chrNW_004624790:10,674,002...10,726,292
Ensembl chrNW_004624790:10,678,911...10,726,265

G

Janus kinase 3

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

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

NCBI chrNW_004624908:1,371,595...1,383,879
Ensembl chrNW_004624908:1,371,595...1,383,879

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 chrNW_004624790:10,250,403...10,320,279
Ensembl chrNW_004624790:10,250,472...10,319,110

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 chrNW_004624790:9,721,178...9,727,005
Ensembl chrNW_004624790:9,721,364...9,726,830

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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 chrNW_004624790:9,399,267...9,405,503
Ensembl chrNW_004624790:9,399,965...9,407,376

G

matrilin 4

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

PMID:26255240 PMID:26376800 PMID:28492532

NCBI chrNW_004624790:9,182,374...9,194,235
Ensembl chrNW_004624790:9,182,847...9,194,384

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 chrNW_004624790:8,584,399...8,591,763
Ensembl chrNW_004624790:8,583,457...8,591,713

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 chrNW_004624790:10,629,771...10,665,187
Ensembl chrNW_004624790:10,630,158...10,664,982

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 chrNW_004624790:8,503,605...8,538,243
Ensembl chrNW_004624790:8,503,611...8,538,238

G

neuralized E3 ubiquitin protein ligase 2

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

PMID:26255240 PMID:26376800 PMID:28492532

NCBI chrNW_004624790:8,692,232...8,694,648
Ensembl chrNW_004624790:8,692,235...8,694,648

G

osteoclast stimulatory transmembrane protein

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

PMID:26255240 PMID:26376800 PMID:28492532

NCBI chrNW_004624790:8,110,491...8,116,657

G

oxidative stress responsive serine rich 1

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

PMID:26255240 PMID:26376800 PMID:28492532

NCBI chrNW_004624790:10,228,671...10,244,275

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 chrNW_004624790:9,545,719...9,572,447
Ensembl chrNW_004624790:9,545,145...9,570,872

G

phosphorylated CTD interacting factor 1

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

PMID:26255240 PMID:26376800 PMID:28492532

NCBI chrNW_004624790:8,647,292...8,660,138
Ensembl chrNW_004624790:8,647,317...8,660,080

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 chrNW_004624790:9,075,733...9,084,961
Ensembl chrNW_004624790:9,075,773...9,084,959

G

cAMP-dependent protein kinase inhibitor gamma

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

PMID:26255240 PMID:26376800 PMID:28492532

NCBI chrNW_004624790:9,829,686...9,936,336
Ensembl chrNW_004624790:9,829,686...9,871,564

G

phospholipid transfer protein

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

PMID:26255240 PMID:26376800 PMID:28492532

NCBI chrNW_004624790:8,673,212...8,686,094
Ensembl chrNW_004624790:8,673,089...8,685,942

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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 chrNW_004624790:10,104,966...10,116,118
Ensembl chrNW_004624790:10,102,516...10,115,267

G

recombination activating 1

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

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

NCBI chrNW_004624767:10,694,867...10,698,041
Ensembl chrNW_004624767:10,694,867...10,698,001

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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 chrNW_004624790:9,173,059...9,185,271
Ensembl chrNW_004624790:9,173,653...9,184,378

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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 chrNW_004624790:9,654,266...9,720,522
Ensembl chrNW_004624790:9,658,850...9,721,084

G

syndecan 4

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

PMID:26255240 PMID:26376800 PMID:28492532

NCBI chrNW_004624790:9,146,371...9,166,729
Ensembl chrNW_004624790:9,145,745...9,169,526

G

serine incorporator 3

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

PMID:26255240 PMID:26376800 PMID:28492532

NCBI chrNW_004624790:9,951,067...9,983,251
Ensembl chrNW_004624790:9,951,233...9,980,234

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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 chrNW_004624790:8,539,103...8,576,877
Ensembl chrNW_004624790:8,537,185...8,576,861

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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 chrNW_004624790:8,028,054...8,104,123
Ensembl chrNW_004624790:8,028,103...8,105,871

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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 chrNW_004624790:7,967,398...7,982,312
Ensembl chrNW_004624790:7,966,694...7,982,367

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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 chrNW_004624790:8,268,219...8,281,085
Ensembl chrNW_004624790:8,268,220...8,281,912

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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 chrNW_004624790:9,235,830...9,238,562
Ensembl chrNW_004624790:9,235,650...9,239,231

G

sorting nexin family member 21

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

PMID:26255240 PMID:26376800 PMID:28492532

NCBI chrNW_004624790:8,722,730...8,745,770
Ensembl chrNW_004624790:8,737,721...8,745,860

G

spermatogenesis associated 25

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

PMID:26255240 PMID:26376800 PMID:28492532

NCBI chrNW_004624790:8,695,832...8,697,063
Ensembl chrNW_004624790:8,695,898...8,697,323

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 chrNW_004624790:8,812,003...8,818,205

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 chrNW_004624790:9,415,172...9,521,103
Ensembl chrNW_004624790:9,415,177...9,521,051

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 chrNW_004624790:9,121,986...9,127,485
Ensembl chrNW_004624790:9,120,280...9,127,567

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 chrNW_004624790:9,523,612...9,542,475
Ensembl chrNW_004624790:9,523,111...9,543,154

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 chrNW_004624790:10,339,928...10,467,855
Ensembl chrNW_004624790:10,339,858...10,467,837

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 chrNW_004624790:7,992,996...7,996,191
Ensembl chrNW_004624790:7,992,762...7,998,639

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 chrNW_004624790:9,084,921...9,115,285
Ensembl chrNW_004624790:9,110,692...9,116,287

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 chrNW_004624790:9,986,075...9,999,838
Ensembl chrNW_004624790:9,989,546...10,004,122

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 chrNW_004624790:8,756,758...8,760,078
Ensembl chrNW_004624790:8,751,662...8,760,057

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 chrNW_004624790:8,832,808...8,836,126

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 chrNW_004624790:8,928,002...8,934,503

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 chrNW_004624790:8,789,875...8,800,843

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 chrNW_004624790:9,386,787...9,393,060
Ensembl chrNW_004624790:9,387,902...9,393,179

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 chrNW_004624790:8,859,310...8,868,261
Ensembl chrNW_004624790:8,860,940...8,868,261

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 chrNW_004624790:8,844,701...8,846,216
Ensembl chrNW_004624790:8,844,701...8,846,594

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 chrNW_004624790:9,574,003...9,593,821
Ensembl chrNW_004624790:9,574,027...9,593,825

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 chrNW_004624790:8,624,316...8,646,712
Ensembl chrNW_004624790:8,625,150...8,647,441

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 chrNW_004624790:8,698,022...8,702,316
Ensembl chrNW_004624790:8,698,522...8,702,186

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 chrNW_004624790:8,703,660...8,720,300
Ensembl chrNW_004624790:8,703,675...8,720,270

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 chrNW_004624801:7,727,084...7,735,946
Ensembl chrNW_004624801:7,727,093...7,735,940

G

bone morphogenetic protein 6

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004624756:17,742,822...17,894,931
Ensembl chrNW_004624756:17,743,834...17,894,753

G

caspase recruitment domain family member 11

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004624740:29,974,707...30,085,498
Ensembl chrNW_004624740:29,974,689...30,085,981

G

C-C motif chemokine receptor 4

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004624788:10,965,226...10,974,215
Ensembl chrNW_004624788:10,966,207...10,971,180

G

C-C motif chemokine receptor 7

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004624795:2,777,766...2,787,664
Ensembl chrNW_004624795:2,779,627...2,788,897

G

CD163 molecule

disease_progression

protein:increased expression:lymph node tumor (human)

NCBI chrNW_004624860:3,976,746...4,000,349
Ensembl chrNW_004624860:3,975,747...4,000,349

G

CD274 molecule

disease_progression

NCBI chrNW_004624736:9,991,851...10,017,047
Ensembl chrNW_004624736:9,996,156...10,013,814

G

CD28 molecule

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004624765:12,650,092...12,667,168

G

CD68 molecule

disease_progression

protein:increased expression:lymph node tumor (human)

NCBI chrNW_004624786:10,195,337...10,197,963

G

CD80 molecule

NCBI chrNW_004624731:28,630,540...28,655,297
Ensembl chrNW_004624731:28,630,446...28,651,994

G

CD86 molecule

NCBI chrNW_004624912:350,201...432,410
Ensembl chrNW_004624912:350,157...426,712

G

casein kinase 1 alpha 1

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004624774:8,815,021...8,862,657
Ensembl chrNW_004624774:8,815,023...8,862,878

G

casein kinase 2 alpha 1

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004624741:1,566,380...1,635,365

G

casein kinase 2 beta

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004624754:24,533,134...24,538,233

G

cytotoxic T-lymphocyte associated protein 4

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004624765:12,449,205...12,454,324
Ensembl chrNW_004624765:12,449,205...12,454,324

G

Fas cell surface death receptor

susceptibility

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

PMID:7513372 PMID:17962369

RGD:11049147 RGD:11049453

NCBI chrNW_004624791:15,290,022...15,315,848
Ensembl chrNW_004624791:15,289,348...15,315,848

G

forkhead box P3

disease_progression

CTD Direct Evidence: marker/mechanism

PMID:23797717 PMID:23962110

NCBI chrNW_004624893:995,145...1,008,492
Ensembl chrNW_004624893:995,182...1,008,679

G

FYN proto-oncogene, Src family tyrosine kinase

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004624933:248,298...456,933
Ensembl chrNW_004624933:389,627...456,520

G

GATA binding protein 3

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004624775:2,985,077...3,014,567
Ensembl chrNW_004624775:2,994,164...3,015,392

G

heterogeneous nuclear ribonucleoprotein A2/B1

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004624739:4,343,164...4,353,123
Ensembl chrNW_004624739:4,343,246...4,352,066

G

inducible T cell costimulator

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004624765:12,351,695...12,417,847
Ensembl chrNW_004624765:12,352,042...12,372,861

G

interferon gamma

treatment

CTD Direct Evidence: marker/mechanism

PMID:8800741 PMID:23962110

NCBI chrNW_004624802:163,261...166,534
Ensembl chrNW_004624802:163,261...166,534

G

IKAROS family zinc finger 2

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004624765:3,016,569...3,171,443
Ensembl chrNW_004624765:3,017,571...3,164,136

G

interleukin 10

CTD Direct Evidence: marker/mechanism

PMID:8704212 PMID:23962110

NCBI chrNW_004624807:4,687,249...4,691,658
Ensembl chrNW_004624807:4,687,176...4,691,732

G

interleukin 2

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004624777:2,885,537...2,890,453
Ensembl chrNW_004624777:2,885,535...2,890,453

G

interleukin 4

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004624733:39,412,800...39,420,079

G

interleukin 5

disease_progression

protein:increased expression:serum

NCBI chrNW_004624733:39,544,487...39,558,943
Ensembl chrNW_004624733:39,556,797...39,559,119

G

interleukin 6

protein:increased expression:serum (human)

NCBI chrNW_004624739:7,957,709...7,963,414
Ensembl chrNW_004624739:7,957,674...7,962,318

G

interferon regulatory factor 4

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004624756:23,917,111...23,931,482
Ensembl chrNW_004624756:23,918,323...23,931,501

G

Janus kinase 3

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

NCBI chrNW_004624908:1,371,595...1,383,879
Ensembl chrNW_004624908:1,371,595...1,383,879

G

MYB proto-oncogene, transcription factor

disease_progression

mRNA:splice variants:CD4+ T cell:

NCBI chrNW_004624886:2,455,704...2,489,593

G

notch receptor 1

DNA:mutations:multiple (human)

NCBI chrNW_004624760:1,636,331...1,676,398
Ensembl chrNW_004624760:1,634,702...1,676,531

G

NRAS proto-oncogene, GTPase

disease_progression

NCBI chrNW_004624772:10,358,554...10,369,371

G

phospholipase C gamma 1

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004624919:1,766,533...1,800,130
Ensembl chrNW_004624919:1,766,149...1,803,097

G

protein kinase C beta

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004624782:8,974,995...9,287,609
Ensembl chrNW_004624782:8,974,765...9,287,702

G

signal transducer and activator of transcription 3

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004624795:1,648,235...1,680,788
Ensembl chrNW_004624795:1,648,080...1,681,200

G

TAL bHLH transcription factor 2

NCBI chrNW_004624758:5,750,458...5,755,861
Ensembl chrNW_004624758:5,747,765...5,863,612

G

telomeric repeat binding factor 2

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004624746:16,992,049...17,020,809
Ensembl chrNW_004624746:16,992,110...17,019,857

G

T cell leukemia homeobox 1

CTD Direct Evidence: marker/mechanism

PMID:1683261 PMID:1717256

NCBI chrNW_004624831:710,787...717,367
Ensembl chrNW_004624831:710,389...717,339

G

TNF superfamily member 8

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004624760:20,251,390...20,280,358
Ensembl chrNW_004624760:20,253,437...20,280,522

G

tumor protein p73

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004624818:6,775,588...6,817,187
Ensembl chrNW_004624818:6,775,599...6,809,289

G

vav guanine nucleotide exchange factor 1

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004624828:3,838,464...3,896,698
Ensembl chrNW_004624828:3,838,706...3,897,080

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 chrNW_004624737:7,565,169...7,681,102

G

Bruton tyrosine kinase

susceptibility

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

PMID:8162018 PMID:10352268

NCBI chrNW_004624902:1,173,101...1,216,662
Ensembl chrNW_004624902:1,182,682...1,216,171

G

CD19 molecule

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004624782:12,844,148...12,850,770
Ensembl chrNW_004624782:12,845,432...12,850,576

G

CD79a molecule

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004624907:803,439...806,879
Ensembl chrNW_004624907:803,359...806,897

G

CD79b molecule

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004624849:1,429,446...1,432,835
Ensembl chrNW_004624849:1,429,912...1,432,955

G

leucine rich repeat containing 8 VRAC subunit A

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004624760:6,122,626...6,148,033
Ensembl chrNW_004624760:6,122,626...6,147,076

G

transcription factor 3

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004624828:7,090,562...7,119,970
Ensembl chrNW_004624828:7,090,605...7,121,428

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 chrNW_004624902:1,173,101...1,216,662
Ensembl chrNW_004624902:1,182,682...1,216,171

G

CD79a molecule

ClinVar Annotator: match by term: Autosomal recessive agammaglobulinemia 1

PMID:25741868 PMID:28492532

NCBI chrNW_004624907:803,439...806,879
Ensembl chrNW_004624907:803,359...806,897

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 chrNW_004624767:1,376,649...1,404,382
Ensembl chrNW_004624767:1,394,704...1,404,406

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 chrNW_004624747:10,411,933...10,413,969
Ensembl chrNW_004624747:10,412,012...10,413,969

G

chromosome unknown C22orf15 homolog

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

NCBI chrNW_004624747:10,413,941...10,416,539

G

derlin 3

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

NCBI chrNW_004624747:10,357,560...10,359,779
Ensembl chrNW_004624747:10,357,627...10,359,779

G

macrophage migration inhibitory factor

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

NCBI chrNW_004624747:10,307,826...10,308,649
Ensembl chrNW_004624747:10,303,919...10,308,821

G

matrix metallopeptidase 11

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

NCBI chrNW_004624747:10,398,167...10,408,397
Ensembl chrNW_004624747:10,398,130...10,408,376

G

solute carrier family 2 member 11

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

NCBI chrNW_004624747:10,314,718...10,357,501
Ensembl chrNW_004624747:10,315,205...10,344,045

G

SWI/SNF related BAF chromatin remodeling complex subunit B1

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

NCBI chrNW_004624747:10,362,149...10,396,580
Ensembl chrNW_004624747:10,361,260...10,396,719

G

V-set pre-B cell surrogate light chain 3

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

NCBI chrNW_004624747:10,422,747...10,425,633
Ensembl chrNW_004624747:10,424,262...10,425,438

G

zinc finger protein 70

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

NCBI chrNW_004624747:10,426,982...10,431,945
Ensembl chrNW_004624747:10,426,991...10,432,859

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 chrNW_004624907:803,439...806,879
Ensembl chrNW_004624907:803,359...806,897

G

ribosomal protein S19

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

NCBI chrNW_004624907:811,069...818,218
Ensembl chrNW_004624907:810,984...818,614

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 chrNW_004624737:6,921,619...6,970,113
Ensembl chrNW_004624737:6,921,222...6,970,488

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 chrNW_004624737:7,565,169...7,681,102

G

coiled-coil and C2 domain containing 2B

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

NCBI chrNW_004624737:7,298,646...7,417,751
Ensembl chrNW_004624737:7,300,871...7,418,559

G

cyclin J

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

NCBI chrNW_004624737:7,431,033...7,448,609
Ensembl chrNW_004624737:7,431,051...7,449,346

G

ectonucleoside triphosphate diphosphohydrolase 1

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

NCBI chrNW_004624737:7,011,792...7,193,903
Ensembl chrNW_004624737:7,084,818...7,191,918

G

tectonic family member 3

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

NCBI chrNW_004624737:6,980,716...7,011,681
Ensembl chrNW_004624737:6,984,234...7,012,142

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 chrNW_004624737:7,519,340...7,544,529
Ensembl chrNW_004624737:7,537,816...7,542,267

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 chrNW_004624760:6,122,626...6,148,033
Ensembl chrNW_004624760:6,122,626...6,147,076

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 chrNW_004624849:1,429,446...1,432,835
Ensembl chrNW_004624849:1,429,912...1,432,955

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 chrNW_004624815:1,290,106...1,376,961
Ensembl chrNW_004624815:1,289,997...1,369,610

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 chrNW_004624828:7,090,562...7,119,970
Ensembl chrNW_004624828:7,090,605...7,121,428

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 chrNW_004624828:7,090,562...7,119,970
Ensembl chrNW_004624828:7,090,605...7,121,428

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 chrNW_004624828:7,090,562...7,119,970
Ensembl chrNW_004624828:7,090,605...7,121,428

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 chrNW_004624754:23,602,940...23,606,903
Ensembl chrNW_004624754:23,603,141...23,640,406

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 chrNW_004624738:11,094,699...12,010,349
Ensembl chrNW_004624738:11,095,134...11,288,891

G

heat shock protein 90 alpha family class A member 1

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004624734:2,233,932...2,239,687
Ensembl chrNW_004624734:2,233,547...2,241,436

G

interferon regulatory factor 4

DNA:translocation

NCBI chrNW_004624756:23,917,111...23,931,482
Ensembl chrNW_004624756:23,918,323...23,931,501

G

JunB proto-oncogene, AP-1 transcription factor subunit

NCBI chrNW_004624901:402,969...404,741
Ensembl chrNW_004624901:403,235...404,269

G

RELA proto-oncogene, NF-kB subunit

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004624767:20,732,813...20,742,016
Ensembl chrNW_004624767:20,732,938...20,741,272

G

signal transducer and activator of transcription 3

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004624795:1,648,235...1,680,788
Ensembl chrNW_004624795:1,648,080...1,681,200

G

TNF receptor superfamily member 8

CTD Direct Evidence: marker/mechanism

PMID:10908157 PMID:17261581

NCBI chrNW_004624818:957,597...996,565

G

twist family bHLH transcription factor 1

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004624739:11,352,040...11,354,019
Ensembl chrNW_004624739:11,352,141...11,352,809

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 chrNW_004624830:3,446,331...3,543,450
Ensembl chrNW_004624830:3,446,141...3,519,084

autoimmune lymphoproliferative syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

actin alpha 2, smooth muscle

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

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

NCBI chrNW_004624791:15,243,074...15,259,362
Ensembl chrNW_004624791:15,242,432...15,259,508

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 chrNW_004624791:15,119,267...15,154,722
Ensembl chrNW_004624791:15,119,731...15,154,507

G

ankyrin repeat domain 45

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

PMID:22857792 PMID:25451160 PMID:28492532

NCBI chrNW_004624771:8,137,031...8,172,876
Ensembl chrNW_004624771:8,136,965...8,172,951

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 chrNW_004624889:31,132...63,774

G

caspase 8

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004624899:427,064...450,931
Ensembl chrNW_004624899:424,363...451,087

G

centromere protein L

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

PMID:22857792 PMID:25451160 PMID:28492532

NCBI chrNW_004624771:8,034,225...8,051,451
Ensembl chrNW_004624771:8,036,701...8,051,998

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 chrNW_004624737:39,649...41,241

G

chromosome unknown C1orf105 homolog

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

PMID:22857792 PMID:25451160 PMID:28492532

NCBI chrNW_004624771:9,195,036...9,228,238

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 chrNW_004624771:8,003,208...8,033,981
Ensembl chrNW_004624771:8,003,295...8,034,043

G

dynamin 3

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

PMID:22857792 PMID:25451160 PMID:28492532

NCBI chrNW_004624771:9,247,463...9,838,276
Ensembl chrNW_004624771:9,247,218...9,838,254

G

Fas cell surface death receptor

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

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

NCBI chrNW_004624791:15,290,022...15,315,848
Ensembl chrNW_004624791:15,289,348...15,315,848

G

Fas ligand

susceptibility

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

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

NCBI chrNW_004624771:9,031,978...9,038,760
Ensembl chrNW_004624771:9,032,016...9,038,825

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 chrNW_004624737:123,044...129,222
Ensembl chrNW_004624737:119,458...131,567

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 chrNW_004624737:137,866...160,377
Ensembl chrNW_004624737:137,779...160,525

G

interferon induced protein with tetratricopeptide repeats 5

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

NCBI chrNW_004624737:297,012...303,449

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 chrNW_004624771:8,068,522...8,117,329

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 chrNW_004624737:49,471...82,981
Ensembl chrNW_004624737:49,371...83,514

G

lipase F, gastric type

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

NCBI chrNW_004624791:14,961,554...14,972,310
Ensembl chrNW_004624791:14,961,557...14,972,238

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 chrNW_004624791:15,097,263...15,119,135
Ensembl chrNW_004624791:15,097,419...15,117,158

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 chrNW_004624791:15,050,707...15,066,223
Ensembl chrNW_004624791:15,055,126...15,065,876

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 chrNW_004624771:9,842,545...9,901,846
Ensembl chrNW_004624771:9,887,876...9,901,799

G

matrix metallopeptidase 9

disease_progression

NCBI chrNW_004624790:8,584,399...8,591,763
Ensembl chrNW_004624790:8,583,457...8,591,713

G

myocilin

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

PMID:22857792 PMID:25451160 PMID:28492532

NCBI chrNW_004624771:10,066,170...10,080,257
Ensembl chrNW_004624771:10,065,788...10,080,680

G

NRAS proto-oncogene, GTPase

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004624772:10,358,554...10,369,371

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 chrNW_004624771:9,234,218...9,236,991
Ensembl chrNW_004624771:9,234,242...9,236,987

G

peroxiredoxin 6

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

PMID:22857792 PMID:25451160 PMID:28492532

NCBI chrNW_004624771:8,282,622...8,293,799
Ensembl chrNW_004624771:8,282,062...8,294,340

G

ring finger and CCCH-type domains 1

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

PMID:22857792 PMID:25451160 PMID:28492532

NCBI chrNW_004624771:7,837,547...7,948,217

G

renalase, FAD dependent amine oxidase

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

NCBI chrNW_004624791:14,542,625...14,873,393

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 chrNW_004624771:7,955,778...7,966,637
Ensembl chrNW_004624771:7,955,739...7,966,637

G

solute carrier family 16 member 12

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

NCBI chrNW_004624737:312,039...405,432
Ensembl chrNW_004624737:312,039...365,915

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 chrNW_004624771:8,175,164...8,268,303
Ensembl chrNW_004624771:8,187,118...8,268,333

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 chrNW_004624791:15,185,185...15,231,854
Ensembl chrNW_004624791:15,186,030...15,234,162

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 chrNW_004624771:9,094,893...9,168,989
Ensembl chrNW_004624771:9,096,453...9,168,731

G

TNF superfamily member 18

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

PMID:22857792 PMID:25451160 PMID:28492532

NCBI chrNW_004624771:8,711,093...8,722,518
Ensembl chrNW_004624771:8,711,017...8,722,539

G

TNF superfamily member 4

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

PMID:22857792 PMID:25451160 PMID:28492532

NCBI chrNW_004624771:8,580,489...8,599,735

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 chrNW_004624771:9,986,835...10,034,112

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 chrNW_004624771:7,958,343...7,995,351
Ensembl chrNW_004624771:7,980,922...7,995,017

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 chrNW_004624889:31,132...63,774

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 chrNW_004624765:12,971,867...13,091,446
Ensembl chrNW_004624765:12,998,315...13,091,370

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 chrNW_004624899:74,080...170,565

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 chrNW_004624765:13,849,689...13,950,839
Ensembl chrNW_004624765:13,857,062...13,947,683

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 chrNW_004624782:14,519,283...14,654,514

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 chrNW_004624765:13,370,578...13,504,485
Ensembl chrNW_004624765:13,431,825...13,466,969

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 chrNW_004624889:31,132...63,774

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 chrNW_004624899:427,064...450,931
Ensembl chrNW_004624899:424,363...451,087

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 chrNW_004624765:12,650,092...12,667,168

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 chrNW_004624765:14,550,267...14,641,749
Ensembl chrNW_004624765:14,555,207...14,641,545

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 chrNW_004624889:76,760...108,619
Ensembl chrNW_004624889:75,396...100,989

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 chrNW_004624765:12,449,205...12,454,324
Ensembl chrNW_004624765:12,449,205...12,454,324

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 chrNW_004624765:13,661,928...13,782,962
Ensembl chrNW_004624765:13,701,345...13,782,952

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 chrNW_004624899:361,645...416,374
Ensembl chrNW_004624899:389,719...416,603

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 chrNW_004624765:14,399,143...14,402,970

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 chrNW_004624765:13,547,437...13,687,641
Ensembl chrNW_004624765:13,588,073...13,687,250

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 chrNW_004624765:12,351,695...12,417,847
Ensembl chrNW_004624765:12,352,042...12,372,861

G

cytochrome P450 20A1

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

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

NCBI chrNW_004624765:13,108,937...13,159,580
Ensembl chrNW_004624765:13,105,816...13,159,574

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 chrNW_004624899:175,920...205,398

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 chrNW_004624765:13,176,362...13,380,414
Ensembl chrNW_004624765:13,176,944...13,380,292

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 chrNW_004624889:126,294...141,572
Ensembl chrNW_004624889:131,732...141,915

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 chrNW_004624765:14,139,815...14,172,413

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 chrNW_004624765:12,867,547...12,994,605
Ensembl chrNW_004624765:12,922,083...12,990,363

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 chrNW_004624899:255,042...275,258
Ensembl chrNW_004624899:255,042...275,235

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 chrNW_004624765:14,205,071...14,229,864
Ensembl chrNW_004624765:14,205,051...14,229,864

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 chrNW_004624899:209,810...239,404
Ensembl chrNW_004624899:206,878...238,737

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 chrNW_004624899:275,291...335,555
Ensembl chrNW_004624899:300,096...332,392

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 chrNW_004624765:13,504,347...13,532,418
Ensembl chrNW_004624765:13,504,533...13,531,200

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 chrNW_004624822:4,035,819...4,062,907
Ensembl chrNW_004624822:4,033,130...4,059,555

G

RFT1 homolog

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

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

NCBI chrNW_004624822:4,081,012...4,140,702
Ensembl chrNW_004624822:4,091,523...4,130,083

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 chrNW_004624752:13,809,741...13,847,020
Ensembl chrNW_004624752:13,809,775...13,844,166

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 chrNW_004624772:10,358,554...10,369,371

Autoimmune Lymphoproliferative Syndrome, Type IA

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

Fas cell surface death receptor

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

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

NCBI chrNW_004624791:15,290,022...15,315,848
Ensembl chrNW_004624791:15,289,348...15,315,848

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 chrNW_004624771:9,031,978...9,038,760
Ensembl chrNW_004624771:9,032,016...9,038,825

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 chrNW_004624765:12,971,867...13,091,446
Ensembl chrNW_004624765:12,998,315...13,091,370

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 chrNW_004624899:74,080...170,565

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 chrNW_004624765:13,849,689...13,950,839
Ensembl chrNW_004624765:13,857,062...13,947,683

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 chrNW_004624782:14,519,283...14,654,514

G

calcium responsive transcription factor

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

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

NCBI chrNW_004624765:13,370,578...13,504,485
Ensembl chrNW_004624765:13,431,825...13,466,969

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 chrNW_004624889:31,132...63,774

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 chrNW_004624899:427,064...450,931
Ensembl chrNW_004624899:424,363...451,087

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 chrNW_004624765:12,650,092...12,667,168

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 chrNW_004624765:14,550,267...14,641,749
Ensembl chrNW_004624765:14,555,207...14,641,545

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 chrNW_004624889:76,760...108,619
Ensembl chrNW_004624889:75,396...100,989

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 chrNW_004624765:12,449,205...12,454,324
Ensembl chrNW_004624765:12,449,205...12,454,324

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 chrNW_004624765:13,661,928...13,782,962
Ensembl chrNW_004624765:13,701,345...13,782,952

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 chrNW_004624899:361,645...416,374
Ensembl chrNW_004624899:389,719...416,603

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 chrNW_004624765:14,399,143...14,402,970

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 chrNW_004624765:13,547,437...13,687,641
Ensembl chrNW_004624765:13,588,073...13,687,250

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 chrNW_004624765:12,351,695...12,417,847
Ensembl chrNW_004624765:12,352,042...12,372,861

G

cytochrome P450 20A1

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

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

NCBI chrNW_004624765:13,108,937...13,159,580
Ensembl chrNW_004624765:13,105,816...13,159,574

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 chrNW_004624899:175,920...205,398

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 chrNW_004624765:13,176,362...13,380,414
Ensembl chrNW_004624765:13,176,944...13,380,292

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 chrNW_004624889:126,294...141,572
Ensembl chrNW_004624889:131,732...141,915

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 chrNW_004624765:14,139,815...14,172,413

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 chrNW_004624765:12,867,547...12,994,605
Ensembl chrNW_004624765:12,922,083...12,990,363

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 chrNW_004624899:255,042...275,258
Ensembl chrNW_004624899:255,042...275,235

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 chrNW_004624765:14,205,071...14,229,864
Ensembl chrNW_004624765:14,205,051...14,229,864

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 chrNW_004624899:209,810...239,404
Ensembl chrNW_004624899:206,878...238,737

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 chrNW_004624899:275,291...335,555
Ensembl chrNW_004624899:300,096...332,392

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 chrNW_004624765:13,504,347...13,532,418
Ensembl chrNW_004624765:13,504,533...13,531,200

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 chrNW_004624792:8,029,383...8,087,824
Ensembl chrNW_004624792:8,029,364...8,084,424

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 chrNW_004624782:4,508,758...4,537,751
Ensembl chrNW_004624782:4,512,650...4,537,701

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 chrNW_004624875:3,636,762...3,959,991
Ensembl chrNW_004624875:3,636,924...3,956,576

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 chrNW_004624766:20,899,546...20,937,084
Ensembl chrNW_004624766:20,900,676...20,937,202

B-Cell Chronic Lymphocytic Leukemia

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

acyl-CoA oxidase like

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004624749:1,130,192...1,487,040

G

activation induced cytidine deaminase

disease_progression

NCBI chrNW_004624860:4,912,938...4,927,846
Ensembl chrNW_004624860:4,912,656...4,926,634

G

apolipoprotein E

disease_progression

NCBI chrNW_004624907:1,752,322...1,755,308

G

ATM serine/threonine kinase

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004624784:2,933,172...3,080,131
Ensembl chrNW_004624784:2,937,499...3,078,216

G

BCL11 transcription factor A

DNA:translocation:5' utr: (human)

NCBI chrNW_004624833:1,367,878...1,468,257
Ensembl chrNW_004624833:1,367,781...1,468,400

G

BCL2 apoptosis regulator

severity
no_association
treatment

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

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

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

NCBI chrNW_004624792:8,854,345...9,032,727
Ensembl chrNW_004624792:8,859,522...9,031,344

G

Bcl2 modifying factor

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004624804:7,420,003...7,440,012
Ensembl chrNW_004624804:7,423,547...7,440,014

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 chrNW_004624765:20,766,368...20,951,560
Ensembl chrNW_004624765:20,773,885...20,951,736

G

Bruton tyrosine kinase

treatment

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

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

NCBI chrNW_004624902:1,173,101...1,216,662
Ensembl chrNW_004624902:1,182,682...1,216,171

G

Cbl proto-oncogene

severity

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

NCBI chrNW_004624784:14,577,582...14,671,816
Ensembl chrNW_004624784:14,577,515...14,667,575

G

coiled-coil domain containing 50

NCBI chrNW_004624730:65,877,175...65,949,099
Ensembl chrNW_004624730:65,882,486...65,949,464

G

CD40 molecule

NCBI chrNW_004624790:8,475,640...8,485,927
Ensembl chrNW_004624790:8,476,158...8,485,856

G

CD40 ligand

mouse-human chimeric gene in human

NCBI chrNW_004624808:10,472,028...10,484,407
Ensembl chrNW_004624808:10,472,572...10,484,338

G

CD5 molecule

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004624926:373,694...381,596
Ensembl chrNW_004624926:374,819...380,943

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 chrNW_004624849:1,429,446...1,432,835
Ensembl chrNW_004624849:1,429,912...1,432,955

G

CD86 molecule

severity

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

NCBI chrNW_004624912:350,201...432,410
Ensembl chrNW_004624912:350,157...426,712

G

cytoplasmic polyadenylation element binding protein 1

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004624768:18,386,415...18,468,879

G

cytotoxic T-lymphocyte associated protein 4

protein:increased expression:T cell

PMID:15914560 PMID:16094420

RGD:11344923 RGD:11352246

NCBI chrNW_004624765:12,449,205...12,454,324
Ensembl chrNW_004624765:12,449,205...12,454,324

G

dyskerin pseudouridine synthase 1

NCBI chrNW_004624963:468,673...479,317
Ensembl chrNW_004624963:469,408...479,207

G

DNA methyltransferase 3 beta

mRNA:decreased expression: B cell

NCBI chrNW_004624842:6,450,972...6,505,929
Ensembl chrNW_004624842:6,450,852...6,475,785

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 chrNW_004624907:2,249,323...2,263,999
Ensembl chrNW_004624907:2,250,133...2,263,947

G

FERM, ARH/RhoGEF and pleckstrin domain protein 2

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004624847:5,385,718...5,511,408
Ensembl chrNW_004624847:5,385,764...5,511,227

G

Fas cell surface death receptor

disease_progression

NCBI chrNW_004624791:15,290,022...15,315,848
Ensembl chrNW_004624791:15,289,348...15,315,848

G

F-box and WD repeat domain containing 7

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

PMID:25741868 PMID:26619011

NCBI chrNW_004624858:3,778,842...3,974,351
Ensembl chrNW_004624858:3,775,795...3,873,336

G

Fc fragment of IgG receptor IIIa

no_association

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

NCBI chrNW_004624826:51,387...59,117

G

GNAS complex locus

disease_progression

DNA:polymorphism:393T>C (human)

NCBI chrNW_004624741:25,138,678...25,197,194
Ensembl chrNW_004624741:25,183,329...25,196,880

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 chrNW_004624766:21,907,423...21,913,414
Ensembl chrNW_004624766:21,911,241...21,913,653

G

intercellular adhesion molecule 1

severity

NCBI chrNW_004624828:2,432,584...2,451,997
Ensembl chrNW_004624828:2,432,550...2,453,071

G

interferon gamma

susceptibility

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

NCBI chrNW_004624802:163,261...166,534
Ensembl chrNW_004624802:163,261...166,534

G

interleukin 10

disease_progression
no_association

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

PMID:10638947 PMID:19573080 PMID:22945689

RGD:11041895 RGD:11049165 RGD:11049174

NCBI chrNW_004624807:4,687,249...4,691,658
Ensembl chrNW_004624807:4,687,176...4,691,732

G

interleukin 19

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004624807:4,636,357...4,641,022
Ensembl chrNW_004624807:4,636,374...4,641,022

G

interleukin 1 alpha

NCBI chrNW_004624749:12,795,967...12,805,658
Ensembl chrNW_004624749:12,795,946...12,805,154

G

interleukin 1 beta

severity

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

PMID:10870116 PMID:18271063

RGD:11051967 RGD:11522755

NCBI chrNW_004624749:12,852,128...12,858,478
Ensembl chrNW_004624749:12,852,021...12,858,760

G

interleukin 1 receptor antagonist

protein:decreased expression:plasma:

NCBI chrNW_004624749:13,210,365...13,224,471
Ensembl chrNW_004624749:13,210,476...13,225,890

G

interleukin 6

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

PMID:10870116 PMID:18006695

NCBI chrNW_004624739:7,957,709...7,963,414
Ensembl chrNW_004624739:7,957,674...7,962,318

G

interferon regulatory factor 4

disease_progression

CTD Direct Evidence: marker/mechanism

PMID:12079517 PMID:12393648 PMID:18758461

RGD:11526160 RGD:11530024

NCBI chrNW_004624756:23,917,111...23,931,482
Ensembl chrNW_004624756:23,918,323...23,931,501

G

integrin subunit alpha 4

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004624844:3,264,794...3,353,355
Ensembl chrNW_004624844:3,265,110...3,354,087

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 chrNW_004624752:13,809,741...13,847,020
Ensembl chrNW_004624752:13,809,775...13,844,166

G

lymphoid enhancer binding factor 1

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004624830:1,320,034...1,422,774
Ensembl chrNW_004624830:1,321,387...1,424,389

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 chrNW_004624766:21,895,967...21,910,727
Ensembl chrNW_004624766:21,896,933...21,907,911

G

methylenetetrahydrofolate reductase

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004624818:1,184,736...1,202,708
Ensembl chrNW_004624818:1,187,869...1,199,168

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 chrNW_004624731:2,677,259...2,681,408
Ensembl chrNW_004624731:2,677,290...2,681,489

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 chrNW_004624772:10,358,554...10,369,371

G

purinergic receptor P2X 7

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004624747:21,725,813...21,768,123
Ensembl chrNW_004624747:21,725,395...21,759,453

G

platelet and endothelial cell adhesion molecule 1

severity

protein:increased expression:B cell (human)

NCBI chrNW_004624870:33,293...122,536

G

phospholipase C gamma 2

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

PMID:24869598 PMID:28492532

NCBI chrNW_004624746:5,678,057...5,824,663
Ensembl chrNW_004624746:5,682,666...5,821,855

G

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

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004624792:5,330,289...5,338,067

G

DNA polymerase beta

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004624780:884,896...941,587

G

protein phosphatase 2 regulatory subunit B'gamma

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004624734:2,337,649...2,471,319
Ensembl chrNW_004624734:2,335,243...2,470,811

G

PRAME nuclear receptor transcriptional regulator

protein:increased expression:mononuclear cell (human)

NCBI chrNW_004624747:8,914,226...8,927,648
Ensembl chrNW_004624747:8,913,531...8,918,222

G

protein kinase D2

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004624832:6,885,627...6,915,316
Ensembl chrNW_004624832:6,886,327...6,915,179

G

prostaglandin-endoperoxide synthase 2

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004624814:6,897,818...6,904,890
Ensembl chrNW_004624814:6,897,857...6,903,728

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 chrNW_004624747:19,721,581...19,813,639
Ensembl chrNW_004624747:19,721,468...19,813,670

G

glutaminyl-peptide cyclotransferase

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004624738:18,945,954...18,984,016
Ensembl chrNW_004624738:18,945,969...18,984,016

G

RB transcriptional corepressor like 2

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004624757:3,295,471...3,351,539
Ensembl chrNW_004624757:3,295,479...3,351,928

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 chrNW_004624889:2,796,351...2,835,592

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 chrNW_004624767:20,326,499...20,340,204
Ensembl chrNW_004624767:20,326,499...20,340,164

G

telomerase reverse transcriptase

disease_progression

NCBI chrNW_004624751:624,569...647,198

G

transferrin receptor

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004624730:61,282,650...61,313,487
Ensembl chrNW_004624730:61,285,334...61,313,550

G

thrombomodulin

NCBI chrNW_004624741:22,880,481...22,883,962

G

tumor necrosis factor

disease_progression

protein:increased expression:bone marrow, blood, lymphocyte

PMID:12010662 PMID:22945689

RGD:10449463 RGD:11041895

NCBI chrNW_004624754:24,623,059...24,625,647
Ensembl chrNW_004624754:24,623,425...24,625,531

G

TNF receptor superfamily member 11a

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004624792:8,029,383...8,087,824
Ensembl chrNW_004624792:8,029,364...8,084,424

G

TNF superfamily member 11

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004624748:12,527,221...12,555,551
Ensembl chrNW_004624748:12,527,478...12,555,405

G

TNF superfamily member 13

protein:increased expression:serum

NCBI chrNW_004624786:10,175,534...10,179,233
Ensembl chrNW_004624786:10,175,859...10,179,233

G

TNF superfamily member 8

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004624760:20,251,390...20,280,358
Ensembl chrNW_004624760:20,253,437...20,280,522

G

DNA topoisomerase II binding protein 1

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004624730:9,916,717...9,994,666
Ensembl chrNW_004624730:9,914,140...9,994,775

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 chrNW_004624786:10,266,316...10,282,664
Ensembl chrNW_004624786:10,263,518...10,271,218

G

vitamin D receptor

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004624816:4,314,146...4,423,946
Ensembl chrNW_004624816:4,365,961...4,424,514

G

exportin 1

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

NCBI chrNW_004624833:375,817...424,499
Ensembl chrNW_004624833:375,820...424,499

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 chrNW_004624907:1,087,611...1,113,275
Ensembl chrNW_004624907:1,087,611...1,113,266

B-cell lymphoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

activation induced cytidine deaminase

NCBI chrNW_004624860:4,912,938...4,927,846
Ensembl chrNW_004624860:4,912,656...4,926,634

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 chrNW_004624730:69,145,035...69,167,583
Ensembl chrNW_004624730:69,154,080...69,167,689

G

bromodomain containing 2

NCBI chrNW_004624754:23,742,506...23,750,668
Ensembl chrNW_004624754:23,742,509...23,750,062

G

Bruton tyrosine kinase

treatment

human cell in a mouse model

PMID:25662332 PMID:28348046

RGD:11040764 RGD:124713554

NCBI chrNW_004624902:1,173,101...1,216,662
Ensembl chrNW_004624902:1,182,682...1,216,171

G

chromobox 7

NCBI chrNW_004624752:9,133,587...9,151,216
Ensembl chrNW_004624752:9,133,569...9,151,934

G

CD40 molecule

NCBI chrNW_004624790:8,475,640...8,485,927
Ensembl chrNW_004624790:8,476,158...8,485,856

G

colony stimulating factor 2

treatment

NCBI chrNW_004624733:40,039,127...40,041,294
Ensembl chrNW_004624733:40,039,414...40,041,294

G

colony stimulating factor 3

CTD Direct Evidence: therapeutic

NCBI chrNW_004624795:3,162,999...3,167,248
Ensembl chrNW_004624795:3,163,009...3,166,594

G

ELL associated factor 2

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004624912:112,793...168,553
Ensembl chrNW_004624912:112,843...168,553

G

enhancer of zeste 2 polycomb repressive complex 2 subunit

treatment
severity

PMID:23982173 PMID:29456795

RGD:10755356 RGD:126781726

NCBI chrNW_004624800:6,781,848...6,874,221
Ensembl chrNW_004624800:6,802,901...6,874,196

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 chrNW_004624782:12,037,338...12,070,479
Ensembl chrNW_004624782:12,057,651...12,068,650

G

Janus kinase 3

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004624908:1,371,595...1,383,879
Ensembl chrNW_004624908:1,371,595...1,383,879

G

lysine acetyltransferase 5

severity

NCBI chrNW_004624767:20,668,759...20,675,367
Ensembl chrNW_004624767:20,666,763...20,675,164

G

galectin 1

protein:increased expression:primary tumor (rat)

NCBI chrNW_004624752:10,220,115...10,223,434
Ensembl chrNW_004624752:10,219,872...10,223,317

G

NRAS proto-oncogene, GTPase

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004624772:10,358,554...10,369,371

G

prostaglandin-endoperoxide synthase 2

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004624814:6,897,818...6,904,890
Ensembl chrNW_004624814:6,897,857...6,903,728

G

protein tyrosine phosphatase non-receptor type 1

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004624790:5,070,537...5,135,243
Ensembl chrNW_004624790:5,073,476...5,135,181

G

TNF superfamily member 8

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004624760:20,251,390...20,280,358
Ensembl chrNW_004624760:20,253,437...20,280,522

G

TNF superfamily member 9

NCBI chrNW_004624828:3,615,860...3,623,377

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 chrNW_004624760:4,878,811...5,032,719
Ensembl chrNW_004624760:4,878,556...5,031,491

G

aryl hydrocarbon receptor

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004624739:12,939,183...12,987,574
Ensembl chrNW_004624739:12,942,165...12,987,973

G

activating transcription factor 7 interacting protein

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004624752:23,469,237...23,605,803
Ensembl chrNW_004624752:23,470,201...23,573,648

G

BCL2 like 1

severity

NCBI chrNW_004624741:788,445...838,513
Ensembl chrNW_004624741:789,355...839,507

G

BCR activator of RhoGEF and GTPase

BCR/ABL fusion

NCBI chrNW_004624747:9,528,968...9,664,055
Ensembl chrNW_004624747:9,528,996...9,662,131

G

bromodomain containing 2

NCBI chrNW_004624754:23,742,506...23,750,668
Ensembl chrNW_004624754:23,742,509...23,750,062

G

cellular communication network factor 2

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004624753:6,022,033...6,024,866
Ensembl chrNW_004624753:6,023,069...6,024,833

G

cyclin D1

mRNA:increased expression:B cell (mouse)

NCBI chrNW_004624767:17,470,310...17,483,082
Ensembl chrNW_004624767:17,469,622...17,483,191

G

cytokine receptor like factor 2

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004624834:596,067...610,333

G

ETS variant transcription factor 6

CTD Direct Evidence: marker/mechanism

PMID:15217836 PMID:24413735 PMID:25807284

NCBI chrNW_004624752:25,916,942...26,131,380
Ensembl chrNW_004624752:25,913,456...26,131,164

G

coagulation factor XIII A chain

protein:increased expression:B lymphoblast:

NCBI chrNW_004624756:19,103,064...19,259,632
Ensembl chrNW_004624756:19,103,327...19,259,964

G

coagulation factor III, tissue factor

treatment

NCBI chrNW_004624742:3,112,827...3,123,424
Ensembl chrNW_004624742:3,112,801...3,124,301

G

fumarate hydratase

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

PMID:25741868 PMID:28492532

NCBI chrNW_004624771:11,861,537...11,886,154
Ensembl chrNW_004624771:11,856,884...11,887,066

G

fms related receptor tyrosine kinase 3

mRNA,protein:increased expression:bone marrow:

NCBI chrNW_004624776:10,407,083...10,516,350
Ensembl chrNW_004624776:10,435,850...10,517,066

G

GATA binding protein 3

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004624775:2,985,077...3,014,567
Ensembl chrNW_004624775:2,994,164...3,015,392

G

indoleamine 2,3-dioxygenase 1

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004624780:3,684,941...3,697,506
Ensembl chrNW_004624780:3,685,069...3,697,474

G

IKAROS family zinc finger 1

disease_progression

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

PMID:22699455 PMID:24141364

NCBI chrNW_004624740:3,785,342...3,875,892
Ensembl chrNW_004624740:3,785,209...3,875,841

G

interleukin 5

NCBI chrNW_004624733:39,544,487...39,558,943
Ensembl chrNW_004624733:39,556,797...39,559,119

G

interferon regulatory factor 4

PMID:20585039 PMID:21818355 PMID:25006123

RGD:11526159 RGD:11530020 RGD:11530030

NCBI chrNW_004624756:23,917,111...23,931,482
Ensembl chrNW_004624756:23,918,323...23,931,501

G

interferon regulatory factor 8

NCBI chrNW_004624746:2,272,385...2,290,400
Ensembl chrNW_004624746:2,272,389...2,290,455

G

intestine specific homeobox

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004624750:460,058...483,303
Ensembl chrNW_004624750:468,316...482,716

G

MAX dimerization protein MGA

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004624804:8,796,383...8,957,343
Ensembl chrNW_004624804:8,852,345...8,955,868

G

MYB proto-oncogene, transcription factor

disease_progression

mRNA:splice variants:cds:

NCBI chrNW_004624886:2,455,704...2,489,593

G

MYC proto-oncogene, bHLH transcription factor

NCBI chrNW_004624735:27,780,338...27,784,714
Ensembl chrNW_004624735:27,780,037...27,784,806

G

paired box 5

CTD Direct Evidence: marker/mechanism

PMID:24013638 PMID:30643249

NCBI chrNW_004624930:491,220...660,476
Ensembl chrNW_004624930:491,892...667,530

G

platelet derived growth factor receptor alpha

treatment

NCBI chrNW_004624761:15,223,789...15,269,685
Ensembl chrNW_004624761:15,225,356...15,269,810

G

RB transcriptional corepressor 1

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

PMID:25741868 PMID:28492532

NCBI chrNW_004624748:6,358,588...6,533,217
Ensembl chrNW_004624748:6,358,180...6,533,249

G

RUNX family transcription factor 1

onset

DNA:amplification

NCBI chrNW_004624745:22,921,180...23,158,250
Ensembl chrNW_004624745:22,921,120...23,157,876

G

signal transducer and activator of transcription 3

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004624795:1,648,235...1,680,788
Ensembl chrNW_004624795:1,648,080...1,681,200

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 chrNW_004624828:7,444,339...7,466,926
Ensembl chrNW_004624828:7,445,069...7,467,298

G

SUFU negative regulator of hedgehog signaling

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

PMID:25741868 PMID:28492532

NCBI chrNW_004624831:1,882,114...2,012,341
Ensembl chrNW_004624831:1,882,077...2,012,341

G

transcription factor 3

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004624828:7,090,562...7,119,970
Ensembl chrNW_004624828:7,090,605...7,121,428

G

tryptophan 2,3-dioxygenase

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004624848:2,380,827...2,395,807
Ensembl chrNW_004624848:2,380,670...2,396,314

G

tissue factor pathway inhibitor

treatment

NCBI chrNW_004624899:2,401,861...2,473,762
Ensembl chrNW_004624899:2,406,282...2,473,883

G

TNF superfamily member 13

NCBI chrNW_004624786:10,175,534...10,179,233
Ensembl chrNW_004624786:10,175,859...10,179,233

G

TNF superfamily member 8

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004624760:20,251,390...20,280,358
Ensembl chrNW_004624760:20,253,437...20,280,522

G

tumor protein p53

disease_progression

DNA:mutations: :

NCBI chrNW_004624786:10,266,316...10,282,664
Ensembl chrNW_004624786:10,263,518...10,271,218

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 chrNW_004624766:20,899,546...20,937,084
Ensembl chrNW_004624766:20,900,676...20,937,202

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 chrNW_004624766:20,899,546...20,937,084
Ensembl chrNW_004624766:20,900,676...20,937,202

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 chrNW_004624738:29,083,696...29,108,792
Ensembl chrNW_004624738:29,083,692...29,108,792

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 chrNW_004624841:218,642...304,744
Ensembl chrNW_004624841:219,133...265,397

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 chrNW_004624782:8,752,510...8,780,972
Ensembl chrNW_004624782:8,751,866...8,780,884

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 chrNW_004624748:6,358,588...6,533,217
Ensembl chrNW_004624748:6,358,180...6,533,249

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 chrNW_004624735:12,345,326...12,351,783
Ensembl chrNW_004624735:12,345,844...12,351,637

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 chrNW_004624784:14,577,582...14,671,816
Ensembl chrNW_004624784:14,577,515...14,667,575

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 chrNW_004624751:54,778...90,457
Ensembl chrNW_004624751:54,779...90,447

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 chrNW_004624757:5,895,912...5,953,485

G

nucleotide binding oligomerization domain containing 2

susceptibility

ClinVar Annotator: match by term: Blau syndrome | ClinVar Annotator: match by term: Jabs syndrome
DNA:snps:cds:p.R587C, p.C495Y, p.W490L (human)
DNA:snp:cds:p.E383G (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 More...

RGD:8158040 RGD:8158051 RGD:8547515 RGD:8547518

NCBI chrNW_004624757:5,956,873...6,000,052
Ensembl chrNW_004624757:5,958,486...6,000,103

G

spalt like transcription factor 1

ClinVar Annotator: match by term: Blau syndrome

NCBI chrNW_004624757:5,572,510...5,587,623
Ensembl chrNW_004624757:5,572,528...5,587,617

Burkitt lymphoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

alpha 1,4-galactosyltransferase (P1PK blood group)

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004624752:6,127,296...6,150,474
Ensembl chrNW_004624752:6,144,720...6,145,781

G

AT-rich interaction domain 1A

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004624764:10,672,673...10,759,634
Ensembl chrNW_004624764:10,672,735...10,759,634

G

BCL2 binding component 3

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004624832:6,467,716...6,476,754
Ensembl chrNW_004624832:6,470,475...6,476,754

G

BRCA1 DNA repair associated

ClinVar Annotator: match by term: Burkitt lymphoma

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

NCBI chrNW_004624795:1,186,043...1,238,986
Ensembl chrNW_004624795:1,188,136...1,241,964

G

Bruton tyrosine kinase

ameliorates
treatment

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

PMID:28474336 PMID:30546948

RGD:124713565 RGD:124715474

NCBI chrNW_004624902:1,173,101...1,216,662
Ensembl chrNW_004624902:1,182,682...1,216,171

G

calreticulin

treatment

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

PMID:9858521 PMID:10961892

RGD:150521687 RGD:150521702

NCBI chrNW_004624901:511,295...515,208
Ensembl chrNW_004624901:511,052...516,757

G

CD40 molecule

treatment

human cell line in a mouse model

NCBI chrNW_004624790:8,475,640...8,485,927
Ensembl chrNW_004624790:8,476,158...8,485,856

G

CD79b molecule

treatment

human cells in mouse model

NCBI chrNW_004624849:1,429,446...1,432,835
Ensembl chrNW_004624849:1,429,912...1,432,955

G

formimidoyltransferase cyclodeaminase

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004624745:31,279,868...31,288,600
Ensembl chrNW_004624745:31,276,314...31,289,063

G

G protein subunit alpha 13

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004624870:3,278,870...3,323,015
Ensembl chrNW_004624870:3,278,898...3,323,153

G

inhibitor of DNA binding 3, HLH protein

CTD Direct Evidence: marker/mechanism

PMID:23143595 PMID:23143597

NCBI chrNW_004624764:8,175,841...8,177,444
Ensembl chrNW_004624764:8,175,372...8,177,451

G

MLLT11 transcription factor 7 cofactor

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004624772:18,762,099...18,768,629

G

MYC proto-oncogene, bHLH transcription factor

ClinVar Annotator: match by term: Burkitt lymphoma

PMID:8220424 PMID:25157968 PMID:27993330

NCBI chrNW_004624735:27,780,338...27,784,714
Ensembl chrNW_004624735:27,780,037...27,784,806

G

PBX homeobox 1

CTD Direct Evidence: marker/mechanism

PMID:1967982 PMID:17244677

NCBI chrNW_004624826:2,944,272...3,250,957
Ensembl chrNW_004624826:2,945,004...3,215,110

G

pyruvate carboxylase

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004624767:19,481,158...19,601,036
Ensembl chrNW_004624767:19,480,522...19,614,051

G

phosphoinositide-3-kinase regulatory subunit 1

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004624815:1,290,106...1,376,961
Ensembl chrNW_004624815:1,289,997...1,369,610

G

ret proto-oncogene

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004624922:382,462...413,227
Ensembl chrNW_004624922:382,399...413,281

G

spalt like transcription factor 3

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004624806:1,432,771...1,454,794
Ensembl chrNW_004624806:1,435,617...1,454,779

G

SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4

CTD Direct Evidence: marker/mechanism

NCBI chrNW_004624828:2,893,075...2,985,968
Ensembl chrNW_004624828:2,893,096...2,985,968