lymphatic system disease - Ontology Report - Rat Genome Database

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RGD DISEASE ONTOLOGY - ANNOTATIONS

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

Term:	lymphatic system disease	go back to main search page
Accession:	DOID:75	browse the term
Definition:	An immune system disease that is located_in the lymphatic system. (DO)
Synonyms:	exact_synonym:	disease of lympoid system; disorder of lymph node and lymphatics; disorder of lymphatic system; disorder of lymphoid system; lymphangiopathy; lymphatic disease; lymphatic diseases; lymphatic disorder; lymphatism; lympoid system disease; status lymphaticus
	primary_id:	MESH:D008206
	xref:	EFO:0007352
For additional species annotation, visit the Alliance of Genome Resources.

show annotations for term's descendants Sort by:
Rat (1793) Mouse (2160) Human (32064) Chinchilla (1572) Bonobo (1697) Dog (1721) Squirrel (1594) Pig (1666) Green Monkey (1663) Naked Mole-rat (1570) All
Genes (1725) QTL (9) Strains (23) Cell Lines (36)

lymphatic system disease

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

legumain

NCBI chr 6:121,544,048...121,582,495
Ensembl chr 6:121,544,053...121,582,480

22q11 Deletion Syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

fibroblast growth factor 8

CTD Direct Evidence: marker/mechanism

NCBI chr 1:244,584,477...244,590,578
Ensembl chr 1:244,584,652...244,590,359

G

SIX homeobox 1

RGD

NCBI chr 6:91,746,739...91,751,975
Ensembl chr 6:91,746,739...91,751,975

G

T-box transcription factor 1

RGD

NCBI chr11:82,409,275...82,419,058
Ensembl chr11:82,409,275...82,418,380

Aagenaes syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

unc-45 myosin chaperone A

ClinVar Annotator: match by term: Cholestasis-edema syndrome, Norwegian type

PMID:25741868 PMID:28492532

NCBI chr 1:134,281,930...134,296,661
Ensembl chr 1:134,281,933...134,301,586

acute biphenotypic leukemia

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

DOT1 like histone lysine methyltransferase

treatment

RGD

NCBI chr 7:8,918,764...8,959,474
Ensembl chr 7:8,917,786...8,956,475

G

ring finger protein 20

disease_progression

RGD

NCBI chr 5:63,976,063...64,001,754
Ensembl chr 5:63,976,045...64,001,754

acute leukemia

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ERCC excision repair 2, TFIIH core complex helicase subunit

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

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

NCBI chr 1:79,033,342...79,047,102
Ensembl chr 1:79,033,326...79,047,102

acute lymphoblastic leukemia

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ATP binding cassette subfamily B member 1A

susceptibility

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

CTD
RGD

PMID:22674224 PMID:22674224

NCBI chr 4:25,357,467...25,529,941
Ensembl chr 4:25,158,362...25,442,709

G

ATP binding cassette subfamily C member 2

treatment

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

RGD

PMID:24404132 PMID:25007187

RGD:11080959, RGD:11080979

NCBI chr 1:242,664,657...242,723,239
Ensembl chr 1:242,664,657...242,723,238

G

ATP binding cassette subfamily G member 2

disease_progression

mRNA:increased expression:mononuclear cell:

RGD

PMID:15521915 PMID:12100141

RGD:11081076, RGD:11081143

NCBI chr 4:87,676,241...87,802,757
Ensembl chr 4:87,745,319...87,802,409

G

ABL proto-oncogene 1, non-receptor tyrosine kinase

CTD Direct Evidence: marker/mechanism

PMID:11984797 PMID:21898527

NCBI chr 3:14,979,853...15,083,065
Ensembl chr 3:14,979,853...15,083,065

G

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

susceptibility

RGD

NCBI chr 3:10,162,087...10,182,835
Ensembl chr 3:10,162,096...10,191,423

G

activation-induced cytidine deaminase

treatment

RGD

NCBI chr 4:155,774,132...155,783,972
Ensembl chr 4:155,774,132...155,783,972

G

AT-rich interaction domain 5B

CTD Direct Evidence: marker/mechanism

PMID:19684603 PMID:19684604

NCBI chr20:20,307,731...20,490,746
Ensembl chr20:20,307,731...20,487,433

G

aryl hydrocarbon receptor nuclear translocator

CTD Direct Evidence: marker/mechanism

NCBI chr 2:182,997,731...183,056,584
Ensembl chr 2:182,997,736...183,056,580

G

BCL2 associated X, apoptosis regulator

CTD Direct Evidence: marker/mechanism

NCBI chr 1:95,940,001...95,945,407
Ensembl chr 1:95,938,808...95,945,368

G

BCL2, apoptosis regulator

severity

mRNA:increased expression:bone marrow (human)

RGD

NCBI chr13:22,689,783...22,853,920
Ensembl chr13:22,684,989...22,853,743
Ensembl chr13:22,684,989...22,853,743

G

Bcl2-like 1

treatment

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

RGD

PMID:12469194 PMID:19020783

RGD:11353852, RGD:11353866

NCBI chr 3:141,253,508...141,304,582
Ensembl chr 3:141,253,523...141,303,479
Ensembl chr 1:141,253,523...141,303,479

G

BCR activator of RhoGEF and GTPase

CTD Direct Evidence: marker/mechanism

NCBI chr20:13,469,325...13,596,942
Ensembl chr20:13,471,668...13,597,016

G

caspase 8

CTD Direct Evidence: therapeutic

NCBI chr 9:60,263,863...60,312,542
Ensembl chr 9:60,264,075...60,312,542

G

calpastatin

protein:increased expresssion:B cell

RGD

NCBI chr 2:3,973,112...4,082,658
Ensembl chr 2:3,973,112...4,082,659

G

cyclin D1

mRNA:increased expression:bone marrow (human)

RGD

NCBI chr 1:200,089,002...200,098,524
Ensembl chr 1:200,089,002...200,098,602

G

CD40 ligand

RGD

NCBI chr X:135,127,052...135,138,768
Ensembl chr X:135,126,969...135,138,306

G

CD46 molecule

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

RGD

NCBI chr13:106,575,586...106,606,325
Ensembl chr13:106,574,858...106,660,445

G

CD79b molecule

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

RGD

NCBI chr10:91,239,354...91,242,500
Ensembl chr10:91,239,356...91,242,625

G

CD86 molecule

severity

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

RGD

NCBI chr11:64,142,193...64,200,816
Ensembl chr11:64,163,828...64,200,818

G

cyclin-dependent kinase 6

CTD Direct Evidence: marker/mechanism

NCBI chr 4:30,637,650...30,829,688
Ensembl chr 4:30,646,460...30,829,634

G

cyclin-dependent kinase inhibitor 2A

disease_progression
susceptibility
no_association

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

ClinVar
CTD
RGD

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

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

NCBI chr 5:103,984,949...103,992,143
Ensembl chr 5:103,984,949...104,003,149

G

cyclin-dependent kinase inhibitor 2A, variant 1

disease_progression

RGD

G

cyclin-dependent kinase inhibitor 2B

ClinVar Annotator: match by term: Acute lymphoid leukemia

NCBI chr 5:104,009,839...104,019,082
Ensembl chr 5:104,010,680...104,019,050

G

CCAAT/enhancer binding protein epsilon

CTD Direct Evidence: marker/mechanism

NCBI chr15:28,169,711...28,171,471
Ensembl chr15:28,169,704...28,171,814

G

complement factor B

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

RGD

NCBI chr20:3,970,643...3,976,510
Ensembl chr20:3,951,474...3,976,505

G

CREB binding protein

disease_progression

DNA:mutations:multiple

RGD

NCBI chr10:11,335,551...11,461,888
Ensembl chr10:11,335,953...11,461,888

G

cytokine receptor-like factor 2

CTD Direct Evidence: marker/mechanism

NCBI chr14:103,943...108,643
Ensembl chr14:103,939...108,642

G

colony stimulating factor 3

treatment

RGD

NCBI chr10:83,660,787...83,664,569
Ensembl chr10:83,661,207...83,663,603

G

chondroitin sulfate proteoglycan 4

severity

RGD

NCBI chr 8:57,264,962...57,300,010
Ensembl chr 8:57,264,962...57,300,010

G

cytochrome b-245 alpha chain

mRNA:increased expression:peripheral blood mononuclear cell:

RGD

NCBI chr19:50,487,598...50,495,669
Ensembl chr19:50,487,597...50,495,721

G

cytochrome P450, family 1, subfamily a, polypeptide 1

susceptibility
no_association

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

RGD

PMID:22964275 PMID:16676594 PMID:23725389

RGD:11352714, RGD:11352728, RGD:11352725

NCBI chr 8:58,096,021...58,102,130
Ensembl chr 8:58,096,077...58,102,125

G

cytochrome P450, family 1, subfamily a, polypeptide 2

CTD Direct Evidence: marker/mechanism

NCBI chr 8:58,075,367...58,082,255
Ensembl chr 8:58,075,367...58,082,312

G

cytochrome P450, family 1, subfamily b, polypeptide 1

CTD Direct Evidence: marker/mechanism

NCBI chr 6:15,342,312...15,350,886
Ensembl chr 6:15,342,344...15,350,917

G

cytochrome P450, family 2, subfamily c, polypeptide 79

CTD Direct Evidence: marker/mechanism

G

cytochrome P450, family 2, subfamily d, polypeptide 4

susceptibility

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

RGD

PMID:11037802 PMID:19593802

RGD:11352820, RGD:11252111

NCBI chr 7:113,882,584...113,891,754
Ensembl chr 7:113,881,618...113,891,759

G

cytochrome P450, family 2, subfamily e, polypeptide 1

CTD Direct Evidence: marker/mechanism

NCBI chr 1:195,840,330...195,850,728
Ensembl chr 1:195,840,058...195,864,023

G

cytochrome P450, family 3, subfamily a, polypeptide 9

disease_progression
susceptibility

DNA:polymorphism: :

RGD

PMID:19650988 PMID:22215203

RGD:11353796, RGD:11353805

NCBI chr12:16,806,222...16,846,428
Ensembl chr12:16,806,207...16,846,422

G

dihydrofolate reductase

disease_progression

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

RGD

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

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

NCBI chr 2:23,585,876...23,611,199
Ensembl chr 2:23,586,031...23,613,713

G

DNA methyltransferase 3 alpha

treatment

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

RGD

NCBI chr 6:26,791,517...26,902,161
Ensembl chr 6:26,822,609...26,896,687

G

DNA nucleotidylexotransferase

protein:increased activity:peripheral blood,bone marrow:

RGD

NCBI chr 1:239,856,391...239,888,283
Ensembl chr 1:239,856,391...239,888,282

G

dihydropyrimidine dehydrogenase

no_association
disease_progression

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

RGD

PMID:26846104 PMID:26846104 PMID:26846104

RGD:11098453, RGD:11098453, RGD:11098453

NCBI chr 2:206,609,043...207,474,982
Ensembl chr 2:206,609,122...207,474,982

G

double homeobox 4

CTD Direct Evidence: marker/mechanism

NCBI chr16:1,558,430...1,570,045
Ensembl chr16:1,558,766...1,568,565

G

euchromatic histone lysine methyltransferase 1

CTD Direct Evidence: marker/mechanism

NCBI chr 3:7,580,680...7,729,046
Ensembl chr 3:7,580,683...7,729,007

G

euchromatic histone lysine methyltransferase 2

CTD Direct Evidence: marker/mechanism

NCBI chr20:3,919,623...3,936,751
Ensembl chr20:3,919,624...3,941,547

G

endoglin

disease_progression

RGD

NCBI chr 3:15,934,566...15,972,618
Ensembl chr 3:15,934,518...15,973,230

G

epoxide hydrolase 1

susceptibility
no_association

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

CTD
RGD

PMID:21983886 PMID:21983886 PMID:22200898 PMID:22930568 PMID:19593802 More...

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

NCBI chr13:92,714,315...92,744,105
Ensembl chr13:92,714,315...92,790,235

G

ERCC excision repair 1, endonuclease non-catalytic subunit

susceptibility

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

RGD

PMID:16723154 PMID:16435384

RGD:11252160, RGD:11340204

NCBI chr 1:78,971,310...79,007,963
Ensembl chr 1:78,996,390...79,007,963

G

ERCC excision repair 2, TFIIH core complex helicase subunit

no_association

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

RGD

PMID:19101034 PMID:21987080

RGD:11252192, RGD:11340201

NCBI chr 1:79,033,342...79,047,102
Ensembl chr 1:79,033,326...79,047,102

G

ETS transcription factor ERG

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

PMID:27776115 PMID:27993330

NCBI chr11:34,678,614...34,900,951
Ensembl chr11:34,678,618...34,845,871

G

ETS variant transcription factor 6

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

PMID:17255265 PMID:26102509

NCBI chr 4:166,849,031...167,085,211
Ensembl chr 4:166,847,686...167,084,992

G

enhancer of zeste 2 polycomb repressive complex 2 subunit

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

NCBI chr 4:76,624,399...76,687,362
Ensembl chr 4:76,624,399...76,687,362

G

coagulation factor III, tissue factor

RGD

NCBI chr 2:209,827,061...209,838,666
Ensembl chr 2:209,826,959...209,838,668

G

Fas cell surface death receptor

disease_progression

protein:increased expression:CD34+ bone marrow cell

RGD

PMID:10500800 PMID:9711907

RGD:11049148, RGD:11049157

NCBI chr 1:231,798,963...231,832,591
Ensembl chr 1:231,798,960...231,832,591

G

fibrinogen alpha chain

protein:increased expression:serum (human)

RGD

NCBI chr 2:168,374,120...168,381,523
Ensembl chr 2:168,374,120...168,381,528

G

Fms related receptor tyrosine kinase 3

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

ClinVar
CTD
OMIM

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

NCBI chr12:7,623,930...7,699,474
Ensembl chr12:7,623,930...7,699,474

G

folylpolyglutamate synthase

CTD Direct Evidence: marker/mechanism

NCBI chr 3:15,972,800...15,993,592
Ensembl chr 3:15,972,800...15,993,563

G

GATA binding protein 3

CTD Direct Evidence: marker/mechanism

NCBI chr17:68,643,760...68,666,000
Ensembl chr17:68,643,873...68,665,391

G

growth factor independent 1B transcriptional repressor

mRNA:increased expression:blood:

RGD

NCBI chr 3:11,940,232...11,952,989
Ensembl chr 3:11,940,233...11,952,942

G

growth hormone 1

treatment

RGD

NCBI chr10:91,228,102...91,230,079
Ensembl chr10:91,228,103...91,230,078

G

G protein subunit beta 1

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
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
CTD

PMID:9596582 PMID:24033266 PMID:25485910 PMID:25741868 PMID:25741901 More...

NCBI chr 5:166,075,508...166,142,223
Ensembl chr 5:166,075,629...166,142,124

G

glucose-6-phosphate isomerase

RGD

NCBI chr 1:86,828,211...86,856,077
Ensembl chr 1:86,828,216...86,856,086

G

glutathione peroxidase 1

treatment

RGD

PMID:17317918 PMID:24698347

RGD:11352774, RGD:11352812

NCBI chr 8:109,026,905...109,028,031
Ensembl chr 8:109,026,905...109,028,024

G

glutathione-disulfide reductase

RGD

NCBI chr16:58,482,209...58,525,256
Ensembl chr16:58,482,505...58,525,661

G

glutathione S-transferase mu 1

disease_progression
susceptibility
no_association

RGD

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

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

NCBI chr 2:195,649,845...195,655,402
Ensembl chr 2:195,649,845...195,655,411

G

glutathione S-transferase pi 1

disease_progression
no_association
susceptibility

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

RGD

PMID:10666194 PMID:23979883 PMID:15738600

RGD:10450829, RGD:10755417, RGD:10755321

NCBI chr 1:201,337,762...201,340,230
Ensembl chr 1:201,321,672...201,340,226

G

glutathione S-transferase theta 1

disease_progression
susceptibility

RGD

PMID:10666194 PMID:14607752

RGD:10450829, RGD:10755410

NCBI chr20:12,856,613...12,873,586
Ensembl chr20:12,856,669...12,873,585

G

H1.2 linker histone, cluster member

susceptibility

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

RGD

NCBI chr17:41,391,106...41,392,597
Ensembl chr17:41,388,477...41,392,635

G

HCK proto-oncogene, Src family tyrosine kinase

CTD Direct Evidence: marker/mechanism

NCBI chr 3:141,571,587...141,614,696
Ensembl chr 3:141,571,587...141,614,693

G

histone deacetylase 1

disease_progression

mRNA:increased expression:bone marrow,blood:

RGD

NCBI chr 5:141,853,992...141,881,057
Ensembl chr 5:141,853,989...141,881,111

G

histone deacetylase 2

disease_progression

mRNA:increased expression:bone marrow,blood:

RGD

NCBI chr20:40,548,244...40,571,609
Ensembl chr20:40,548,250...40,571,609

G

histone deacetylase 4

treatment

RGD

NCBI chr 9:92,503,467...92,750,164
Ensembl chr 9:92,507,611...92,750,164

G

homeostatic iron regulator

no_association

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

RGD

PMID:10627122 PMID:17107905 PMID:10627122

RGD:10755557, RGD:10755558, RGD:10755557

NCBI chr17:41,413,451...41,421,502
Ensembl chr17:41,413,451...41,421,502

G

hexokinase 1

protein:decreased activity:platelet

RGD

NCBI chr20:30,230,488...30,332,099
Ensembl chr20:30,230,486...30,332,131

G

HLF transcription factor, PAR bZIP family member

CTD Direct Evidence: marker/mechanism

NCBI chr10:75,154,244...75,211,884
Ensembl chr10:75,154,507...75,211,935

G

homeo box D4

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

NCBI chr 3:59,614,464...59,634,042
Ensembl chr 3:59,614,464...59,631,528

G

isocitrate dehydrogenase (NADP(+)) 1

CTD Direct Evidence: marker/mechanism

NCBI chr 9:66,534,146...66,563,703
Ensembl chr 9:66,534,146...66,563,708

G

interferon gamma

susceptibility

DNA:SNP: :rs2069727(human)

RGD

NCBI chr 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375

G

IKAROS family zinc finger 1

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

CTD
ClinVar
RGD

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

NCBI chr14:86,255,065...86,340,839
Ensembl chr14:86,255,065...86,342,416

G

IKAROS family zinc finger 2

CTD Direct Evidence: marker/mechanism

NCBI chr 9:71,046,038...71,191,296
Ensembl chr 9:71,042,440...71,190,867

G

IKAROS family zinc finger 3

CTD Direct Evidence: marker/mechanism

NCBI chr10:83,460,564...83,553,591
Ensembl chr10:83,465,745...83,553,591

G

interleukin 10

treatment

protein:decreased expression:blood

RGD

PMID:21653647 PMID:15860861

RGD:11049158, RGD:11049169

NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313

G

interferon regulatory factor 4

DNA:SNP:intron:rs12203592 (human)

RGD

NCBI chr17:33,721,800...33,742,570
Ensembl chr17:33,721,811...33,740,070

G

inosine triphosphatase

treatment
no_association

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

RGD

PMID:22009189 PMID:22009189

RGD:10766474, RGD:10766474

NCBI chr 3:117,885,464...117,897,247
Ensembl chr 3:117,885,099...117,897,249

G

lysine demethylase 2B

mRNA:increased expression:bone marrow (human)

RGD

NCBI chr12:33,566,530...33,701,366
Ensembl chr12:33,574,657...33,701,355

G

lysine demethylase 3B

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

RGD

NCBI chr18:26,380,859...26,436,701
Ensembl chr18:26,380,964...26,436,628

G

lysine demethylase 6A

severity

DNA:mutations:cds:multiple (human)

NCBI chr X:4,337,466...4,477,100
Ensembl chr X:4,337,750...4,477,062

G

lysine methyltransferase 2A

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

PMID:24736461 PMID:25730765

NCBI chr 8:45,116,763...45,193,320
Ensembl chr 8:45,118,814...45,193,181

G

KRAS proto-oncogene, GTPase

disease_progression

RGD

PMID:17910045 PMID:25917266

RGD:11060148, RGD:11060149

NCBI chr 4:178,185,418...178,218,484

G

LIM domain only 2

OMIM:247640 | OMIM:613065

NCBI chr 3:90,355,234...90,377,970
Ensembl chr 3:90,365,883...90,377,953

G

MEFV innate immunity regulator, pyrin

susceptibility

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

RGD

NCBI chr10:11,786,948...11,796,977
Ensembl chr10:11,787,422...11,796,973

G

methylenetetrahydrofolate reductase

disease_progression
treatment

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

CTD
RGD

PMID:16706930 PMID:19923983 PMID:21644011

RGD:10449398, RGD:10449407

NCBI chr 5:158,465,248...158,484,999
Ensembl chr 5:158,465,296...158,483,797

G

5-methyltetrahydrofolate-homocysteine methyltransferase

disease_progression
susceptibility
no_association

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

RGD

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

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

NCBI chr17:58,219,998...58,308,560
Ensembl chr17:58,220,071...58,304,822

G

5-methyltetrahydrofolate-homocysteine methyltransferase reductase

susceptibility

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

CTD
RGD

PMID:17136115 PMID:17136115 PMID:23940529

RGD:11531133, RGD:11531135

NCBI chr 1:34,866,991...34,899,425
Ensembl chr 1:34,867,089...34,899,425

G

MYC proto-oncogene, bHLH transcription factor

disease_progression

RGD

NCBI chr 7:93,593,705...93,598,633
Ensembl chr 7:93,593,705...93,598,630

G

N-acetyltransferase 2

susceptibility
no_association

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

CTD
RGD

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

RGD:11532767, RGD:11353805, RGD:11532769

NCBI chr16:22,207,362...22,238,513
Ensembl chr16:22,208,194...22,238,520

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
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
CTD

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

NCBI chr 5:29,459,574...29,494,152
Ensembl chr 5:29,459,457...29,494,150

G

nitric oxide synthase 3

susceptibility
disease_progression

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

RGD

PMID:23922896 PMID:20510681

RGD:11533639, RGD:11533646

NCBI chr 4:10,793,834...10,814,170
Ensembl chr 4:10,793,834...10,814,166

G

notch receptor 3

OMIM:247640 | OMIM:613065

NCBI chr 7:11,132,984...11,184,025
Ensembl chr 7:11,133,706...11,184,025

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)

CTD
RGD

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

RGD:10769347, RGD:10769359

NCBI chr19:35,295,633...35,310,528
Ensembl chr19:35,295,573...35,310,557

G

NRAS proto-oncogene, GTPase

disease_progression

DNA:missense mutation:cds:

RGD

NCBI chr 2:190,582,885...190,593,509
Ensembl chr 2:190,582,918...190,591,626

G

nuclear receptor binding SET domain protein 2

CTD Direct Evidence: therapeutic

NCBI chr14:76,833,179...76,911,304
Ensembl chr14:76,835,637...76,913,641

G

5'-nucleotidase, cytosolic II

CTD Direct Evidence: marker/mechanism

NCBI chr 1:245,770,993...245,896,925
Ensembl chr 1:245,772,277...245,897,913

G

nucleoporin 214

CTD Direct Evidence: marker/mechanism

NCBI chr 3:15,255,111...15,340,568
Ensembl chr 3:15,255,119...15,340,568

G

phosphoprotein membrane anchor with glycosphingolipid microdomains 1

CTD Direct Evidence: marker/mechanism

NCBI chr 2:91,935,378...92,076,937
Ensembl chr 2:92,057,216...92,069,849

G

paired box 5

susceptibility

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

OMIM
ClinVar
CTD

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

NCBI chr 5:58,763,334...58,945,719
Ensembl chr 5:58,765,036...58,944,326

G

paraoxonase 1

susceptibility

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

RGD

NCBI chr 4:33,294,737...33,325,759
Ensembl chr 4:33,294,722...33,321,360

G

PRAME like, X-linked 1

severity

mRNA:increased expression:blood (human)

RGD

NCBI chr X:98,567,994...98,574,654
Ensembl chr X:98,569,415...98,572,096

G

PR/SET domain 14

CTD Direct Evidence: marker/mechanism

NCBI chr 5:6,082,163...6,092,712
Ensembl chr 5:6,082,442...6,092,712

G

phosphatase and tensin homolog

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

NCBI chr 1:230,630,443...230,697,070
Ensembl chr 1:230,630,338...230,696,838

G

RB transcriptional corepressor 1

CTD Direct Evidence: marker/mechanism

NCBI chr15:48,371,295...48,502,473
Ensembl chr15:48,371,296...48,502,302

G

RT1 class II, locus Ba

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

RGD

NCBI chr20:4,575,134...4,579,727
Ensembl chr20:4,575,134...4,579,744

G

RT1 class II, locus Bb

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

RGD

PMID:22434102 PMID:9744491

RGD:11041749, RGD:11041762

NCBI chr20:4,596,558...4,602,201
Ensembl chr20:4,596,559...4,607,597

G

RUNX family transcription factor 1

CTD Direct Evidence: marker/mechanism

NCBI chr11:31,839,880...32,074,427
Ensembl chr11:31,843,764...32,074,542

G

solute carrier family 19 member 1

CTD Direct Evidence: marker/mechanism

NCBI chr20:11,584,410...11,602,429
Ensembl chr20:11,584,411...11,601,972

G

small nuclear ribonucleoprotein polypeptide E

severity

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

RGD

NCBI chr13:45,050,986...45,057,231
Ensembl chr13:45,050,986...45,057,310
Ensembl chr 8:45,050,986...45,057,310

G

TAL bHLH transcription factor 1, erythroid differentiation factor

CTD Direct Evidence: marker/mechanism

NCBI chr 5:128,586,776...128,600,976
Ensembl chr 5:128,587,701...128,600,976

G

TAL bHLH transcription factor 2

CTD Direct Evidence: marker/mechanism

NCBI chr 5:68,411,012...68,417,569
Ensembl chr 5:68,411,012...68,417,569

G

transcription factor 3

CTD Direct Evidence: marker/mechanism

NCBI chr 7:9,280,571...9,302,315
Ensembl chr 7:9,280,571...9,302,314

G

transcobalamin 2

protein:altered activity:plasma:

RGD

NCBI chr14:78,813,343...78,828,549
Ensembl chr14:78,813,343...78,828,489

G

telomerase reverse transcriptase

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

RGD

PMID:23066086 PMID:15621763

RGD:11038654, RGD:11038667

NCBI chr 1:29,637,213...29,659,561
Ensembl chr 1:29,637,506...29,659,561

G

transmembrane 9 superfamily member 2

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

RGD

NCBI chr15:99,201,556...99,254,054
Ensembl chr15:99,201,489...99,254,049

G

tumor protein p53

CTD Direct Evidence: marker/mechanism

NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524

G

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

RGD

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

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

NCBI chr17:17,644,088...17,662,709
Ensembl chr17:17,644,173...17,662,709

G

tetratricopeptide repeat domain 12

DNA:hypermethylation:5'end:CpG dinucleotide

RGD

NCBI chr 8:49,799,916...49,847,940
Ensembl chr 8:49,799,920...49,847,087

G

thymidylate synthetase

treatment

DNA:repeats: : rs347430033(human)

RGD

NCBI chr 9:113,313,454...113,329,551
Ensembl chr 9:113,313,452...113,329,536

G

ubiquitously transcribed tetratricopeptide repeat containing, Y-linked

severity

DNA:mutations:cds:multiple (human)

RGD

NCBI chr Y:942,838...1,105,313
Ensembl chr Y:924,168...1,103,422

G

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

CTD Direct Evidence: marker/mechanism

NCBI chr11:84,126,969...84,127,846
Ensembl chr11:84,126,969...84,127,846

G

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.R399Q (human)
DNA:missense mutation: :p.R194W (human)

CTD
RGD

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

RGD:11252110, RGD:11252192, RGD:11252192

NCBI chr 1:80,140,495...80,168,705
Ensembl chr 1:80,141,207...80,168,701

Acute Lymphoblastic Leukemia, with Lymphomatous Features

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ABL proto-oncogene 1, non-receptor tyrosine kinase

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

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

NCBI chr 3:14,979,853...15,083,065
Ensembl chr 3:14,979,853...15,083,065

G

cytokine receptor-like factor 2

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

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

NCBI chr14:103,943...108,643
Ensembl chr14:103,939...108,642

G

cytochrome P450, family 2, subfamily b, polypeptide 3

susceptibility

DNA:polymorphism:G15631T

NCBI chr 1:81,652,762...81,732,153
Ensembl chr 1:81,652,787...81,732,143

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 chr16:66,491,930...66,547,161
Ensembl chr16:66,494,042...66,547,350

G

interleukin 7 receptor

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

PMID:22897847 PMID:22955920

NCBI chr 2:58,452,393...58,477,757
Ensembl chr 2:58,454,217...58,477,757

G

insulin-like 6

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

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

NCBI chr 1:227,069,958...227,073,493
Ensembl chr 1:227,069,958...227,073,493

G

Janus kinase 1

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

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

NCBI chr 5:115,780,248...115,888,841
Ensembl chr 5:115,780,248...115,888,926

G

Janus kinase 2

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

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

NCBI chr 1:226,995,334...227,054,381
Ensembl chr 1:226,995,334...227,054,189

G

Janus kinase 3

ClinVar Annotator: match by term: LYMPHOMATOUS ALL

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

NCBI chr16:18,386,330...18,398,542
Ensembl chr16:18,386,405...18,398,536

adenoid cystic carcinoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

aquaporin 1

CTD Direct Evidence: marker/mechanism

NCBI chr 4:84,482,512...84,494,690
Ensembl chr 4:84,482,512...84,494,690

G

AT-rich interaction domain 1A

CTD Direct Evidence: marker/mechanism

NCBI chr 5:145,908,173...145,981,552
Ensembl chr 5:145,908,181...145,985,564

G

AT-rich interaction domain 2

ClinVar Annotator: match by term: Adenoid cystic carcinoma

NCBI chr 7:127,447,192...127,565,987
Ensembl chr 7:127,447,278...127,563,512

G

AT-rich interaction domain 4B

CTD Direct Evidence: marker/mechanism

NCBI chr17:51,138,419...51,262,894
Ensembl chr17:51,138,535...51,262,906

G

AT-rich interaction domain 5B

CTD Direct Evidence: marker/mechanism

NCBI chr20:20,307,731...20,490,746
Ensembl chr20:20,307,731...20,487,433

G

assembly factor for spindle microtubules

CTD Direct Evidence: marker/mechanism

NCBI chr13:51,074,849...51,123,755
Ensembl chr13:51,074,849...51,123,755

G

ATM serine/threonine kinase

CTD Direct Evidence: marker/mechanism

NCBI chr 8:53,828,741...53,932,773
Ensembl chr 8:53,831,093...53,932,437

G

ATR serine/threonine kinase

treatment

RGD

NCBI chr 8:96,426,704...96,524,152
Ensembl chr 8:96,426,724...96,524,136

G

ATRX, chromatin remodeler

CTD Direct Evidence: marker/mechanism

NCBI chr X:70,850,981...70,997,330
Ensembl chr X:70,850,981...70,997,330

G

BRCA1 associated deubiquitinase 1

ClinVar Annotator: match by term: Adenocystic carcinoma | ClinVar Annotator: match by term: Adenoid cystic carcinoma

PMID:21642991 PMID:24894717 PMID:26166446 PMID:26452128 PMID:28492532

NCBI chr16:6,446,709...6,455,535
Ensembl chr16:6,446,709...6,455,535

G

BCL11 transcription factor A

CTD Direct Evidence: marker/mechanism

NCBI chr14:98,029,018...98,124,181
Ensembl chr14:98,030,461...98,124,180

G

BCL6 co-repressor

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Adenoid cystic carcinoma

NCBI chr X:10,609,756...10,729,613
Ensembl chr X:10,687,732...10,729,613

G

BCL6 co-repressor-like 1

CTD Direct Evidence: marker/mechanism

NCBI chr X:127,516,504...127,584,529
Ensembl chr X:127,537,538...127,584,087

G

BRCA1, DNA repair associated

CTD Direct Evidence: marker/mechanism

NCBI chr10:86,417,441...86,477,762
Ensembl chr10:86,418,000...86,477,304

G

bromodomain containing 1

CTD Direct Evidence: marker/mechanism

NCBI chr 7:119,774,187...119,822,032
Ensembl chr 7:119,774,188...119,822,031

G

cyclin D1

CTD Direct Evidence: marker/mechanism

NCBI chr 1:200,089,002...200,098,524
Ensembl chr 1:200,089,002...200,098,602

G

cadherin 1

CTD Direct Evidence: marker/mechanism

NCBI chr19:34,492,371...34,561,775
Ensembl chr19:34,492,371...34,561,775

G

cap methyltransferase 2

CTD Direct Evidence: marker/mechanism

NCBI chr19:38,190,718...38,197,549
Ensembl chr19:38,190,642...38,197,804

G

contactin 6

CTD Direct Evidence: marker/mechanism

NCBI chr 4:137,354,886...137,751,712
Ensembl chr 4:137,355,367...137,751,119

G

CREB binding protein

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Adenocystic carcinoma

PMID:21390126 PMID:21680795 PMID:21796119 PMID:22832583 PMID:23334668 More...

NCBI chr10:11,335,551...11,461,888
Ensembl chr10:11,335,953...11,461,888

G

death associated protein kinase 1

CTD Direct Evidence: marker/mechanism

NCBI chr17:3,930,223...4,090,991
Ensembl chr17:3,930,213...4,090,991

G

denticleless E3 ubiquitin protein ligase homolog

CTD Direct Evidence: marker/mechanism

NCBI chr13:103,115,810...103,155,029
Ensembl chr13:103,117,186...103,154,890

G

deltex E3 ubiquitin ligase 4

CTD Direct Evidence: marker/mechanism

NCBI chr 1:209,457,719...209,545,163
Ensembl chr 1:209,460,735...209,492,818

G

EF-hand domain family, member D1

CTD Direct Evidence: marker/mechanism

NCBI chr 9:87,938,259...87,984,917
Ensembl chr 9:87,938,284...87,984,917

G

engrailed homeobox 1

CTD Direct Evidence: marker/mechanism

NCBI chr13:31,750,892...31,756,477
Ensembl chr13:31,751,545...31,755,943

G

E1A binding protein p300

CTD Direct Evidence: marker/mechanism

NCBI chr 7:113,108,476...113,178,529
Ensembl chr 7:113,106,247...113,136,088
Ensembl chr 7:113,106,247...113,136,088

G

erbb2 interacting protein

CTD Direct Evidence: marker/mechanism

NCBI chr 2:34,926,962...35,028,440
Ensembl chr 2:34,928,863...35,027,852

G

extra spindle pole bodies like 1, separase

CTD Direct Evidence: marker/mechanism

NCBI chr 7:133,424,027...133,450,984
Ensembl chr 7:133,424,130...133,450,984

G

FA complementation group A

CTD Direct Evidence: marker/mechanism

NCBI chr19:51,304,126...51,362,586
Ensembl chr19:51,304,021...51,362,527

G

FAT atypical cadherin 1

CTD Direct Evidence: marker/mechanism

NCBI chr16:47,177,253...47,296,261
Ensembl chr16:47,177,248...47,296,107

G

F-box and WD repeat domain containing 7

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Adenocystic carcinoma

PMID:23685749 PMID:26619011

NCBI chr 2:170,149,706...170,311,536
Ensembl chr 2:170,149,694...170,309,941

G

fibroblast growth factor 16

CTD Direct Evidence: marker/mechanism

NCBI chr X:70,816,658...70,828,028
Ensembl chr X:70,817,433...70,878,717

G

fibroblast growth factor receptor 2

ClinVar Annotator: match by term: Adenoid cystic carcinoma

NCBI chr 1:184,745,418...184,850,655
Ensembl chr 1:184,745,420...184,850,626

G

fibroblast growth factor receptor 4

CTD Direct Evidence: marker/mechanism

NCBI chr17:9,461,541...9,476,268
Ensembl chr17:9,461,547...9,476,242

G

forkhead box O3

CTD Direct Evidence: marker/mechanism

NCBI chr20:45,669,708...45,764,606
Ensembl chr20:45,672,995...45,764,561

G

forkhead box P2

CTD Direct Evidence: marker/mechanism

NCBI chr 4:43,133,827...43,712,442
Ensembl chr 4:43,133,912...43,711,683

G

growth arrest-specific 2

CTD Direct Evidence: marker/mechanism

NCBI chr 1:101,452,361...101,582,619
Ensembl chr 1:101,482,591...101,582,619

G

growth arrest specific 6

CTD Direct Evidence: marker/mechanism

NCBI chr16:76,045,430...76,075,904
Ensembl chr16:76,045,426...76,075,904

G

GINS complex subunit 2

CTD Direct Evidence: marker/mechanism

NCBI chr19:48,626,770...48,639,523
Ensembl chr19:48,626,770...48,639,339

G

guanylate cyclase 1 soluble subunit alpha 1

CTD Direct Evidence: marker/mechanism

NCBI chr 2:167,418,615...167,482,293
Ensembl chr 2:167,418,640...167,481,671

G

H1.4 linker histone, cluster member

CTD Direct Evidence: marker/mechanism

NCBI chr17:41,486,574...41,487,355
Ensembl chr17:41,486,560...41,487,403

G

homer scaffold protein 3

CTD Direct Evidence: marker/mechanism

NCBI chr16:19,132,177...19,142,739
Ensembl chr16:19,132,162...19,142,680

G

HRas proto-oncogene, GTPase

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Adenocystic carcinoma

PMID:11150980 PMID:16155195 PMID:16170316 PMID:16329078 PMID:16372351 More...

NCBI chr 1:196,290,127...196,299,823
Ensembl chr 1:196,296,263...196,300,615

G

isocitrate dehydrogenase (NADP(+)) 1

ClinVar Annotator: match by term: Adenocystic carcinoma

PMID:18772396 PMID:19657110 PMID:19798509 PMID:19818334 PMID:20946881 More...

NCBI chr 9:66,534,146...66,563,703
Ensembl chr 9:66,534,146...66,563,708

G

insulin-like growth factor binding protein 2

CTD Direct Evidence: marker/mechanism

NCBI chr 9:74,415,574...74,442,945
Ensembl chr 9:74,415,546...74,442,937

G

interleukin 17 receptor D

CTD Direct Evidence: marker/mechanism

NCBI chr16:2,228,438...2,295,122
Ensembl chr16:2,228,287...2,292,556

G

insulin receptor-related receptor

CTD Direct Evidence: marker/mechanism

NCBI chr 2:173,255,335...173,274,800
Ensembl chr 2:173,255,414...173,274,800

G

iroquois homeobox 4

CTD Direct Evidence: marker/mechanism

NCBI chr 1:30,030,561...30,039,549
Ensembl chr 1:30,030,561...30,039,549

G

inositol-3-phosphate synthase 1

CTD Direct Evidence: marker/mechanism

NCBI chr16:18,839,143...18,841,979
Ensembl chr16:18,839,145...18,841,979

G

integrin subunit beta 4

CTD Direct Evidence: marker/mechanism

NCBI chr10:101,206,657...101,243,012
Ensembl chr10:101,206,665...101,243,012

G

jagged canonical Notch ligand 1

CTD Direct Evidence: marker/mechanism

NCBI chr 3:124,406,783...124,442,220
Ensembl chr 3:124,406,794...124,442,209

G

Janus kinase 3

ClinVar Annotator: match by term: Adenocystic carcinoma

PMID:14615376 PMID:28492532 PMID:33040328

NCBI chr16:18,386,330...18,398,542
Ensembl chr16:18,386,405...18,398,536

G

jumonji domain containing 1C

CTD Direct Evidence: marker/mechanism

NCBI chr20:21,332,147...21,494,220
Ensembl chr20:21,332,147...21,463,122

G

KAT8 regulatory NSL complex subunit 1

CTD Direct Evidence: marker/mechanism

NCBI chr10:89,237,667...89,368,735
Ensembl chr10:89,237,667...89,366,951

G

lysine acetyltransferase 6A

CTD Direct Evidence: marker/mechanism

NCBI chr16:69,084,914...69,165,923
Ensembl chr16:69,084,914...69,163,606

G

lysine demethylase 6A

exacerbates

CTD Direct Evidence: marker/mechanism
DNA:mutations:multiple: (human)
DNA:splice-site mutation, missense mutations:splice junction, CDS:multiple: (human)

CTD
RGD

PMID:23685749 PMID:31483290 PMID:23685749

RGD:150429736, RGD:150429732

NCBI chr X:4,337,466...4,477,100
Ensembl chr X:4,337,750...4,477,062

G

lysine demethylase 6B

CTD Direct Evidence: marker/mechanism

NCBI chr10:54,120,716...54,142,212
Ensembl chr10:54,121,848...54,130,794

G

lysine methyltransferase 2C

disease_progression

CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:23685749 PMID:31483290

NCBI chr 4:9,620,638...9,834,787
Ensembl chr 4:9,609,627...9,833,539

G

KRAS proto-oncogene, GTPase

ClinVar Annotator: match by term: Adenocystic carcinoma

PMID:6695174 PMID:12460918 PMID:15696205 PMID:16361624 PMID:16618717 More...

NCBI chr 4:178,185,418...178,218,484

G

keratin 15

CTD Direct Evidence: marker/mechanism

NCBI chr10:85,066,797...85,070,614
Ensembl chr10:85,066,802...85,171,799

G

keratin 5

CTD Direct Evidence: marker/mechanism

NCBI chr 7:132,846,132...132,851,861
Ensembl chr 7:132,846,136...132,851,850

G

leucine rich repeat containing 56

ClinVar Annotator: match by term: Adenocystic carcinoma

PMID:11150980 PMID:16155195 PMID:16170316 PMID:16329078 PMID:16372351 More...

NCBI chr 1:196,299,843...196,315,170
Ensembl chr 1:196,299,846...196,315,172

G

membrane associated guanylate kinase, WW and PDZ domain containing 1

CTD Direct Evidence: marker/mechanism

NCBI chr 4:126,205,663...126,811,354
Ensembl chr 4:126,206,816...126,811,691

G

membrane associated guanylate kinase, WW and PDZ domain containing 2

CTD Direct Evidence: marker/mechanism

NCBI chr 4:14,386,389...15,870,036
Ensembl chr 4:14,386,399...15,870,240

G

mastermind-like transcriptional coactivator 3

CTD Direct Evidence: marker/mechanism

NCBI chr 2:135,720,431...136,137,829
Ensembl chr 2:135,721,021...136,137,814

G

mitogen activated protein kinase kinase 2

CTD Direct Evidence: marker/mechanism

NCBI chr 7:8,590,729...8,610,279
Ensembl chr 7:8,580,905...8,610,243

G

myristoylated alanine rich protein kinase C substrate

CTD Direct Evidence: marker/mechanism

NCBI chr20:40,685,315...40,691,012
Ensembl chr20:40,685,315...40,691,012

G

microtubule affinity regulating kinase 2

CTD Direct Evidence: marker/mechanism

NCBI chr 1:204,461,029...204,526,247
Ensembl chr 1:204,461,030...204,525,652

G

MDS1 and EVI1 complex locus

ClinVar Annotator: match by term: Adenoid cystic carcinoma

NCBI chr 2:112,909,353...113,464,583
Ensembl chr 2:112,909,321...113,464,590

G

MAX dimerization protein MGA

CTD Direct Evidence: marker/mechanism

NCBI chr 3:106,851,216...106,942,908
Ensembl chr 3:106,851,140...106,941,043

G

MIER family member 2

CTD Direct Evidence: marker/mechanism

NCBI chr 7:10,153,501...10,169,381
Ensembl chr 7:10,153,649...10,169,378

G

modulator of VRAC current 1

CTD Direct Evidence: marker/mechanism

NCBI chr 7:120,046,705...120,067,049
Ensembl chr 7:120,046,705...120,067,049

G

mortality factor 4 like 1

CTD Direct Evidence: marker/mechanism

NCBI chr 8:90,642,988...90,664,518
Ensembl chr 8:90,642,988...90,664,519

G

MYB proto-oncogene, transcription factor

CTD Direct Evidence: marker/mechanism

PMID:23685749 PMID:26829750

NCBI chr 1:15,939,771...15,973,367
Ensembl chr 1:15,939,761...15,973,057

G

MYB proto-oncogene like 1

CTD Direct Evidence: marker/mechanism

NCBI chr 5:9,582,905...9,618,179
Ensembl chr 5:9,582,934...9,618,183

G

Myc binding protein

CTD Direct Evidence: marker/mechanism

NCBI chr 5:136,135,955...136,143,163
Ensembl chr 5:136,135,931...136,145,616

G

MYCN proto-oncogene, bHLH transcription factor

CTD Direct Evidence: marker/mechanism

NCBI chr 6:35,717,764...35,723,590
Ensembl chr 6:35,717,764...35,723,590

G

neuropilin and tolloid like 2

CTD Direct Evidence: marker/mechanism

NCBI chr19:21,344,299...21,415,524
Ensembl chr19:21,344,289...21,417,023

G

nuclear factor I/B

CTD Direct Evidence: marker/mechanism

NCBI chr 5:96,759,208...96,974,001
Ensembl chr 5:96,764,653...96,975,479

G

notch receptor 1

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Adenoid cystic carcinoma

NCBI chr 3:9,277,955...9,323,531
Ensembl chr 3:9,278,086...9,323,531

G

nuclear receptor binding SET domain protein 1

CTD Direct Evidence: marker/mechanism

NCBI chr17:9,311,963...9,426,373
Ensembl chr17:9,315,237...9,425,358

G

neurotrophic receptor tyrosine kinase 3

treatment

RGD

NCBI chr 1:132,116,472...132,503,849
Ensembl chr 1:132,132,849...132,503,286

G

proprotein convertase subtilisin/kexin type 1 inhibitor

CTD Direct Evidence: marker/mechanism

NCBI chr X:14,580,036...14,583,478
Ensembl chr X:14,580,038...14,583,566

G

PDZ domain containing 1

CTD Direct Evidence: marker/mechanism

NCBI chr 2:184,376,161...184,407,514
Ensembl chr 2:184,376,161...184,407,514

G

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

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Adenocystic carcinoma

PMID:15930273 PMID:17376864 PMID:18074223 PMID:19366826 PMID:22120714 More...

NCBI chr 2:115,175,275...115,249,034
Ensembl chr 2:115,174,984...115,249,032

G

protein kinase, DNA-activated, catalytic subunit

CTD Direct Evidence: marker/mechanism

NCBI chr11:85,040,790...85,258,357
Ensembl chr11:85,040,792...85,257,952

G

phosphatase and tensin homolog

CTD Direct Evidence: marker/mechanism

NCBI chr 1:230,630,443...230,697,070
Ensembl chr 1:230,630,338...230,696,838

G

glycogen phosphorylase B

CTD Direct Evidence: marker/mechanism

NCBI chr 3:139,611,724...139,658,521
Ensembl chr 3:139,611,749...139,663,553

G

RNA binding fox-1 homolog 2

CTD Direct Evidence: marker/mechanism

NCBI chr 7:108,810,627...109,054,420
Ensembl chr 7:108,810,628...109,054,691

G

serpin family F member 1

CTD Direct Evidence: marker/mechanism

NCBI chr10:60,250,198...60,262,593
Ensembl chr10:60,249,708...60,262,646

G

SET domain containing 2, histone lysine methyltransferase

CTD Direct Evidence: marker/mechanism

NCBI chr 8:110,511,808...110,597,475
Ensembl chr 8:110,511,772...110,597,489

G

splicing factor 3b, subunit 1

ClinVar Annotator: match by term: Adenoid cystic carcinoma

PMID:25741868 PMID:26619011

NCBI chr 9:56,492,403...56,532,300
Ensembl chr 9:56,492,403...56,532,300

G

solute carrier family 24 member 3

CTD Direct Evidence: marker/mechanism

NCBI chr 3:132,552,119...133,051,192
Ensembl chr 3:132,551,595...133,051,192

G

solute carrier family 3 member 2

disease_progression

RGD

NCBI chr 1:205,604,468...205,618,931
Ensembl chr 1:205,604,468...205,618,931

G

solute carrier family 7 member 5

disease_progression

RGD

NCBI chr19:49,935,220...49,963,823
Ensembl chr19:49,935,220...49,963,823

G

SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Adenoid cystic carcinoma

NCBI chr 1:224,191,125...224,358,640
Ensembl chr 1:224,191,125...224,358,684

G

SWI/SNF related BAF chromatin remodeling complex subunit B1

ClinVar Annotator: match by term: Adenoid cystic carcinoma

NCBI chr20:12,741,164...12,763,616
Ensembl chr20:12,741,477...12,763,620

G

SWI/SNF related BAF chromatin remodeling complex subunit E1

CTD Direct Evidence: marker/mechanism

NCBI chr10:84,159,270...84,180,547
Ensembl chr10:84,159,275...84,179,989

G

structural maintenance of chromosomes 1A

CTD Direct Evidence: marker/mechanism

NCBI chr X:21,103,323...21,148,053
Ensembl chr X:21,103,282...21,148,056

G

SON DNA and RNA binding protein

CTD Direct Evidence: marker/mechanism

NCBI chr11:30,850,890...30,923,167
Ensembl chr11:30,892,005...30,923,167

G

SRY-box transcription factor 11

CTD Direct Evidence: marker/mechanism

NCBI chr 6:44,008,333...44,010,354
Ensembl chr 6:44,008,340...44,010,354

G

SRY-box transcription factor 4

CTD Direct Evidence: marker/mechanism

NCBI chr17:35,667,809...35,672,515
Ensembl chr17:35,667,537...35,673,665

G

Snf2-related CREBBP activator protein

CTD Direct Evidence: marker/mechanism

NCBI chr 1:182,123,562...182,172,643
Ensembl chr 1:182,118,416...182,176,610

G

ST3 beta-galactoside alpha-2,3-sialyltransferase 4

CTD Direct Evidence: marker/mechanism

NCBI chr 8:33,415,666...33,465,319
Ensembl chr 8:33,415,671...33,524,389

G

signal transducer and activator of transcription 3

ClinVar Annotator: match by term: Adenoid cystic carcinoma

NCBI chr10:85,811,206...85,863,057
Ensembl chr10:85,811,218...85,863,057

G

tousled-like kinase 1

CTD Direct Evidence: marker/mechanism

NCBI chr 3:55,520,559...55,627,580
Ensembl chr 3:55,503,358...55,691,968

G

DNA topoisomerase II alpha

CTD Direct Evidence: marker/mechanism

NCBI chr10:83,945,731...83,976,874
Ensembl chr10:83,945,735...83,976,874

G

tumor protein p53

disease_progression

ClinVar Annotator: match by term: Adenocystic carcinoma
CTD Direct Evidence: marker/mechanism

ClinVar
CTD
RGD

PMID:1673792 PMID:1686725 PMID:6736287 PMID:7707106 PMID:7881428 More...

NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524

G

ubiquitin-like with PHD and ring finger domains 1

CTD Direct Evidence: marker/mechanism

NCBI chr 9:1,133,117...1,154,639
Ensembl chr 9:1,134,909...1,154,631

G

versican

CTD Direct Evidence: marker/mechanism

NCBI chr 2:20,761,718...20,860,637
Ensembl chr 2:20,761,718...20,860,637

G

Wnt family member 5B

CTD Direct Evidence: marker/mechanism

NCBI chr 4:152,609,566...152,733,790
Ensembl chr 4:152,609,569...152,733,407

G

5'-3' exoribonuclease 2

DNA:hypermethylation:3' utr: (human)

RGD

NCBI chr 3:134,436,916...134,509,308
Ensembl chr 3:134,437,109...134,509,306

adenoid squamous cell carcinoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

HNF1 homeobox A

RGD

NCBI chr12:41,638,536...41,672,806
Ensembl chr12:41,645,587...41,672,104

adenosine deaminase deficiency

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

acyl-CoA thioesterase 8

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

PMID:26255240 PMID:26376800 PMID:28492532

NCBI chr 3:153,531,192...153,542,851
Ensembl chr 3:153,531,193...153,542,851

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
OMIM:102700
CTD Direct Evidence: marker/mechanism
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

OMIM
ClinVar
MouseDO
CTD

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

NCBI chr 3:152,398,745...152,422,854
Ensembl chr 3:152,398,747...152,447,088

G

cellular communication network factor 5

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

PMID:26255240 PMID:26376800 PMID:28492532

NCBI chr 3:152,491,247...152,502,639
Ensembl chr 3:152,491,220...152,502,636

G

Cd247 molecule

ClinVar Annotator: match by term: Bubble boy disease

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

NCBI chr13:78,043,302...78,118,437
Ensembl chr13:78,043,307...78,122,263

G

CD3 epsilon subunit of T-cell receptor complex

ClinVar Annotator: match by term: Bubble boy disease

PMID:25741868 PMID:28492532

NCBI chr 8:45,303,848...45,315,005
Ensembl chr 8:45,303,852...45,315,022

G

CD3 gamma subunit of T-cell receptor complex

ClinVar Annotator: match by term: Bubble boy disease

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

NCBI chr 8:45,280,797...45,287,271
Ensembl chr 8:45,281,204...45,287,147

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 chr 3:153,790,372...153,805,279
Ensembl chr 3:153,790,449...153,805,534

G

cadherin 22

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

PMID:26255240 PMID:26376800 PMID:28492532

NCBI chr 3:153,845,563...153,970,630
Ensembl chr 3:153,845,787...153,970,588

G

cathepsin A

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

PMID:26255240 PMID:26376800 PMID:28492532

NCBI chr 3:153,569,106...153,574,983
Ensembl chr 3:153,568,381...153,576,215

G

dysbindin domain containing 2

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

PMID:26255240 PMID:26376800 PMID:28492532

NCBI chr 3:153,216,300...153,220,651
Ensembl chr 3:153,191,090...153,220,651

G

deoxynucleotidyltransferase, terminal, interacting protein 1

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

PMID:26255240 PMID:26376800 PMID:28492532

NCBI chr 3:153,481,718...153,505,403
Ensembl chr 3:153,481,705...153,505,759

G

engulfment and cell motility 2

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

PMID:26255240 PMID:26376800 PMID:28492532

NCBI chr 3:154,023,661...154,061,259
Ensembl chr 3:154,023,661...154,061,185

G

epididymal peptidase inhibitor

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

PMID:26255240 PMID:26376800 PMID:28492532

NCBI chr 3:153,312,396...153,319,310
Ensembl chr 3:153,312,396...153,319,310

G

fat storage-inducing transmembrane protein 2

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

PMID:26255240 PMID:26376800 PMID:28492532

NCBI chr 3:152,141,346...152,147,858
Ensembl chr 3:152,141,346...152,147,858

G

ganglioside-induced differentiation-associated protein 1-like 1

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

PMID:26255240 PMID:26376800 PMID:28492532

NCBI chr 3:152,110,225...152,129,693
Ensembl chr 3:152,110,253...152,128,711

G

gametocyte specific factor 1-like

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

PMID:26255240 PMID:26376800 PMID:28492532

NCBI chr 3:151,736,020...151,738,715
Ensembl chr 3:151,735,997...151,736,863

G

hepatocyte nuclear factor 4, alpha

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

PMID:26255240 PMID:26376800 PMID:28492532

NCBI chr 3:152,186,787...152,248,320
Ensembl chr 3:152,186,787...152,248,320

G

intraflagellar transport 52

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

PMID:26255240 PMID:26376800 PMID:28492532

NCBI chr 3:151,672,505...151,696,975
Ensembl chr 3:151,672,493...151,696,980

G

Janus kinase 3

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

NCBI chr16:18,386,330...18,398,542
Ensembl chr16:18,386,405...18,398,536

G

junctophilin 2

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

PMID:26255240 PMID:26376800 PMID:28492532

NCBI chr 3:151,994,768...152,058,941
Ensembl chr 3:151,994,778...152,058,904

G

potassium two pore domain channel subfamily K member 15

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

PMID:26255240 PMID:26376800 PMID:28492532

NCBI chr 3:152,515,237...152,521,455
Ensembl chr 3:152,515,237...152,521,455

G

potassium voltage-gated channel, modifier subfamily S, member 1

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

PMID:26255240 PMID:26376800 PMID:28492532

NCBI chr 3:152,835,642...152,843,032
Ensembl chr 3:152,835,644...152,842,960

G

matrilin 4

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

PMID:26255240 PMID:26376800 PMID:28492532

NCBI chr 3:153,120,605...153,135,628
Ensembl chr 3:153,120,632...153,135,865

G

menin 1

ClinVar Annotator: match by term: Severe combined immunodeficiency due to adenosine deaminase deficiency

PMID:20566584 PMID:22187299 PMID:24033266 PMID:25326637 PMID:25637381 More...

NCBI chr 1:203,638,905...203,644,871
Ensembl chr 1:203,639,000...203,644,871

G

matrix metallopeptidase 9

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

PMID:26255240 PMID:26376800 PMID:28492532

NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120

G

MYB proto-oncogene like 2

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

PMID:26255240 PMID:26376800 PMID:28492532

NCBI chr 3:151,705,254...151,733,714
Ensembl chr 3:151,705,288...151,733,708

G

myosin heavy chain 7

ClinVar Annotator: match by term: Bubble boy disease

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

NCBI chr15:28,446,550...28,469,888
Ensembl chr15:28,446,550...28,468,217

G

nuclear receptor coactivator 5

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

PMID:26255240 PMID:26376800 PMID:28492532

NCBI chr 3:153,736,420...153,769,838
Ensembl chr 3:153,736,420...153,769,553

G

neuralized E3 ubiquitin protein ligase 2

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

PMID:26255240 PMID:26376800 PMID:28492532

NCBI chr 3:153,566,659...153,569,380
Ensembl chr 3:153,566,660...153,569,380

G

osteoclast stimulatory transmembrane protein

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

PMID:26255240 PMID:26376800 PMID:28492532

NCBI chr 3:154,131,113...154,141,611
Ensembl chr 3:154,132,328...154,136,991

G

oxidative stress responsive serine-rich 1

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

PMID:26255240 PMID:26376800 PMID:28492532

NCBI chr 3:152,066,975...152,085,180
Ensembl chr 3:152,066,975...152,085,149

G

poly(A) binding protein, cytoplasmic 1-like

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

PMID:26255240 PMID:26376800 PMID:28492532

NCBI chr 3:152,692,825...152,725,997
Ensembl chr 3:152,693,700...152,725,997

G

phosphorylated CTD interacting factor 1

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

PMID:26255240 PMID:26376800 PMID:28492532

NCBI chr 3:153,614,147...153,627,079
Ensembl chr 3:153,614,147...153,627,079

G

phosphatidylinositol glycan anchor biosynthesis, class T

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

PMID:26255240 PMID:26376800 PMID:28492532

NCBI chr 3:153,227,749...153,236,922
Ensembl chr 3:153,227,420...153,236,887

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 chr 3:152,330,477...152,398,085
Ensembl chr 3:152,366,041...152,398,082

G

phospholipid transfer protein

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

PMID:26255240 PMID:26376800 PMID:28492532

NCBI chr 3:153,574,825...153,592,647
Ensembl chr 3:153,574,825...153,592,647

G

R3H domain containing-like

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

PMID:26255240 PMID:26376800 PMID:28492532

NCBI chr 3:152,171,382...152,182,151
Ensembl chr 3:152,171,382...152,182,151

G

recombination activating 1

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

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

NCBI chr 3:87,917,061...87,928,158
Ensembl chr 3:87,917,004...87,928,291

G

recombination activating 2

ClinVar Annotator: match by term: Bubble boy disease

PMID:15025726 PMID:24174341 PMID:25741868 PMID:26457731 PMID:28492532 More...

NCBI chr 3:87,902,373...87,910,227
Ensembl chr 3:87,902,238...87,911,066

G

recombination signal binding protein for immunoglobulin kappa J region-like

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

PMID:26255240 PMID:26376800 PMID:28492532

NCBI chr 3:153,134,044...153,147,421
Ensembl chr 3:153,134,140...153,146,513

G

regulating synaptic membrane exocytosis 4

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

PMID:26255240 PMID:26376800 PMID:28492532

NCBI chr 3:152,520,982...152,585,070
Ensembl chr 3:152,524,095...152,584,780

G

syndecan 4

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

PMID:26255240 PMID:26376800 PMID:28492532

NCBI chr 3:153,154,888...153,173,576
Ensembl chr 3:153,154,896...153,173,580

G

semenogelin 1

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

PMID:26255240 PMID:26376800 PMID:28492532

NCBI chr 3:152,910,033...152,912,882
Ensembl chr 3:152,910,034...152,912,882

G

serine incorporator 3

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

PMID:26255240 PMID:26376800 PMID:28492532

NCBI chr 3:152,301,882...152,321,327
Ensembl chr 3:152,301,772...152,321,808

G

solute carrier family 12 member 5

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

PMID:26255240 PMID:26376800 PMID:28492532

NCBI chr 3:153,696,517...153,735,801
Ensembl chr 3:153,696,517...153,735,765

G

solute carrier family 13 member 3

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

PMID:26255240 PMID:26376800 PMID:28492532

NCBI chr 3:154,141,878...154,204,604
Ensembl chr 3:154,141,872...154,204,606

G

solute carrier family 2 member 10

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

PMID:26255240 PMID:26376800 PMID:28492532

NCBI chr 3:154,240,395...154,252,690
Ensembl chr 3:154,240,391...154,252,690

G

solute carrier family 35 member C2

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

PMID:26255240 PMID:26376800 PMID:28492532

NCBI chr 3:154,012,262...154,023,549
Ensembl chr 3:154,012,416...154,023,488

G

secretory leukocyte peptidase inhibitor

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

PMID:26255240 PMID:26376800 PMID:28492532

NCBI chr 3:153,082,208...153,084,457
Ensembl chr 3:153,082,369...153,084,453

G

sorting nexin family member 21

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

PMID:26255240 PMID:26376800 PMID:28492532

NCBI chr 3:153,522,474...153,532,235
Ensembl chr 3:153,522,486...153,532,221

G

spermatogenesis associated 25

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

PMID:26255240 PMID:26376800 PMID:28492532

NCBI chr 3:153,562,479...153,566,508
Ensembl chr 3:153,562,528...153,564,480

G

serine peptidase inhibitor, Kunitz type, 3

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

PMID:26255240 PMID:26376800 PMID:28492532

NCBI chr 3:153,293,969...153,296,717
Ensembl chr 3:153,294,010...153,296,779

G

serine peptidase inhibitor, Kunitz type 4

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

PMID:26255240 PMID:26376800 PMID:28492532

NCBI chr 3:153,430,633...153,432,821
Ensembl chr 3:153,430,633...153,433,439

G

serine/threonine kinase 4

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

PMID:26255240 PMID:26376800 PMID:28492532

NCBI chr 3:152,745,958...152,827,747
Ensembl chr 3:152,745,681...152,827,744

G

Sys1 golgi trafficking protein

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

PMID:26255240 PMID:26376800 PMID:28492532

NCBI chr 3:153,191,061...153,195,463
Ensembl chr 3:153,191,090...153,220,651

G

troponin C2, fast skeletal type

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

PMID:26255240 PMID:26376800 PMID:28492532

NCBI chr 3:153,513,272...153,516,033
Ensembl chr 3:153,513,271...153,516,029

G

translocase of outer mitochondrial membrane 34

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

PMID:26255240 PMID:26376800 PMID:28492532

NCBI chr 3:152,729,345...152,746,295
Ensembl chr 3:152,729,349...152,746,373

G

TOX high mobility group box family member 2

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

PMID:26255240 PMID:26376800 PMID:28492532

NCBI chr 3:151,853,294...151,980,086
Ensembl chr 3:151,853,294...151,980,749

G

Tp53 tumor protein p53 regulating kinase A

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

PMID:26255240 PMID:26376800 PMID:28492532

NCBI chr 3:154,219,672...154,224,841
Ensembl chr 3:154,220,851...154,224,328

G

TP53 target 5

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

PMID:26255240 PMID:26376800 PMID:28492532

NCBI chr 3:153,200,792...153,204,337
Ensembl chr 3:153,200,789...153,204,349

G

alpha tocopherol transfer protein like

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

PMID:26255240 PMID:26376800 PMID:28492532

NCBI chr 3:152,278,246...152,296,550
Ensembl chr 3:152,278,303...152,296,513

G

ubiquitin-conjugating enzyme E2C

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

PMID:26255240 PMID:26376800 PMID:28492532

NCBI chr 3:153,506,636...153,509,036
Ensembl chr 3:153,506,636...153,513,339

G

WAP four-disulfide core domain 10A

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

PMID:26255240 PMID:26376800 PMID:28492532

NCBI chr 3:153,390,067...153,391,420
Ensembl chr 3:153,390,067...153,391,420

G

WAP four-disulfide core domain 11

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

PMID:26255240 PMID:26376800 PMID:28492532

NCBI chr 3:153,397,585...153,406,407

G

WAP four-disulfide core domain 12

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

PMID:26255240 PMID:26376800 PMID:28492532

NCBI chr 3:152,861,461...152,862,784
Ensembl chr 3:152,862,341...152,862,690

G

WAP four-disulfide core domain 13

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

PMID:26255240 PMID:26376800 PMID:28492532

NCBI chr 3:153,419,553...153,421,306
Ensembl chr 3:153,419,648...153,421,221

G

WAP four-disulfide core domain 2

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

PMID:26255240 PMID:26376800 PMID:28492532

NCBI chr 3:153,286,946...153,314,832
Ensembl chr 3:153,286,131...153,292,807

G

WAP four-disulfide core domain 3

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

PMID:26255240 PMID:26376800 PMID:28492532

NCBI chr 3:153,464,862...153,478,952
Ensembl chr 3:153,464,862...153,478,952

G

WAP four-disulfide core domain 5

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

PMID:26255240 PMID:26376800 PMID:28492532

NCBI chr 3:152,849,025...152,854,868
Ensembl chr 3:152,849,025...152,854,904

G

WAP four-disulfide core domain 6A

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

PMID:26255240 PMID:26376800 PMID:28492532

NCBI chr 3:153,305,336...153,309,144
Ensembl chr 3:153,305,336...153,309,144

G

WAP four-disulfide core domain 8

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

PMID:26255240 PMID:26376800 PMID:28492532

NCBI chr 3:153,323,503...153,339,849
Ensembl chr 3:153,324,413...153,339,842

G

WAP four-disulfide core domain 9

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

PMID:26255240 PMID:26376800 PMID:28492532

NCBI chr 3:153,380,554...153,389,055
Ensembl chr 3:153,380,649...153,391,261

G

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

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

PMID:26255240 PMID:26376800 PMID:28492532

NCBI chr 3:152,659,663...152,682,105
Ensembl chr 3:152,659,651...152,682,105

G

zinc finger protein 334

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

PMID:26255240 PMID:26376800 PMID:28492532

NCBI chr 3:154,112,537...154,125,087
Ensembl chr 3:154,113,561...154,125,057

G

zinc finger protein 335

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

PMID:26255240 PMID:26376800 PMID:28492532

NCBI chr 3:153,618,587...153,648,213
Ensembl chr 3:153,627,467...153,647,054

G

zinc finger, SWIM-type containing 1

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

PMID:26255240 PMID:26376800 PMID:28492532

NCBI chr 3:153,559,104...153,562,821
Ensembl chr 3:153,558,970...153,562,915

G

zinc finger, SWIM-type containing 3

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

PMID:26255240 PMID:26376800 PMID:28492532

NCBI chr 3:153,542,741...153,558,022
Ensembl chr 3:153,542,743...153,558,018

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 chr10:103,072,530...103,081,382
Ensembl chr10:103,073,408...103,081,380

G

bone morphogenetic protein 6

CTD Direct Evidence: marker/mechanism

NCBI chr17:26,318,121...26,469,691
Ensembl chr17:26,318,569...26,470,365

G

caspase recruitment domain family, member 11

CTD Direct Evidence: marker/mechanism

NCBI chr12:13,621,140...13,758,115
Ensembl chr12:13,621,087...13,758,112

G

C-C motif chemokine receptor 4

CTD Direct Evidence: marker/mechanism

NCBI chr 8:114,176,291...114,182,033
Ensembl chr 8:114,176,974...114,178,056

G

C-C motif chemokine receptor 7

CTD Direct Evidence: marker/mechanism

NCBI chr10:84,098,193...84,108,309
Ensembl chr10:84,097,381...84,108,309

G

CD163 molecule

disease_progression

protein:increased expression:lymph node tumor (human)

RGD

NCBI chr 4:157,085,080...157,118,470
Ensembl chr 4:157,085,093...157,117,878

G

CD274 molecule

disease_progression

RGD

NCBI chr 1:227,116,674...227,137,379
Ensembl chr 1:227,116,649...227,134,450

G

Cd28 molecule

CTD Direct Evidence: marker/mechanism

NCBI chr 9:62,166,324...62,194,674
Ensembl chr 9:62,166,192...62,194,685

G

Cd68 molecule

disease_progression

protein:increased expression:lymph node tumor (human)

RGD

NCBI chr10:54,381,814...54,383,693
Ensembl chr10:54,381,815...54,383,697

G

Cd80 molecule

RGD

NCBI chr11:62,254,543...62,293,414
Ensembl chr11:62,254,624...62,292,030

G

CD86 molecule

RGD

NCBI chr11:64,142,193...64,200,816
Ensembl chr11:64,163,828...64,200,818

G

casein kinase 1, alpha 1

CTD Direct Evidence: marker/mechanism

NCBI chr18:55,017,049...55,050,184
Ensembl chr18:55,017,055...55,049,271

G

casein kinase 2 alpha 1

CTD Direct Evidence: marker/mechanism

NCBI chr 3:140,709,984...140,756,757
Ensembl chr 3:140,709,991...140,756,696

G

casein kinase 2 beta

CTD Direct Evidence: marker/mechanism

NCBI chr20:3,700,363...3,705,331
Ensembl chr20:3,698,733...3,707,133

G

cytotoxic T-lymphocyte-associated protein 4

CTD Direct Evidence: marker/mechanism

NCBI chr 9:62,318,874...62,325,978
Ensembl chr 9:62,319,312...62,324,963

G

Fas cell surface death receptor

susceptibility

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

RGD

PMID:17962369 PMID:7513372

RGD:11049147, RGD:11049453

NCBI chr 1:231,798,963...231,832,591
Ensembl chr 1:231,798,960...231,832,591

G

forkhead box P3

disease_progression

CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:23962110 PMID:23797717

NCBI chr X:14,908,494...14,924,994
Ensembl chr X:14,908,494...14,923,838

G

FYN proto-oncogene, Src family tyrosine kinase

CTD Direct Evidence: marker/mechanism

NCBI chr20:42,767,733...42,960,903
Ensembl chr20:42,766,369...42,959,911

G

GATA binding protein 3

CTD Direct Evidence: marker/mechanism

NCBI chr17:68,643,760...68,666,000
Ensembl chr17:68,643,873...68,665,391

G

G protein-coupled receptor 183

CTD Direct Evidence: marker/mechanism

NCBI chr15:99,037,764...99,050,550
Ensembl chr15:99,036,367...99,050,559

G

heterogeneous nuclear ribonucleoprotein A2/B1

CTD Direct Evidence: marker/mechanism

NCBI chr 4:80,534,659...80,545,297
Ensembl chr 4:80,534,651...80,545,249

G

inducible T-cell co-stimulator

CTD Direct Evidence: marker/mechanism

NCBI chr 9:62,368,075...62,406,900
Ensembl chr 9:62,383,832...62,405,672

G

interferon, alpha 1

CTD Direct Evidence: therapeutic

NCBI chr 5:103,097,356...103,097,925
Ensembl chr 5:103,097,356...103,097,925

G

interferon gamma

treatment

CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:23962110 PMID:8800741

NCBI chr 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375

G

IKAROS family zinc finger 2

CTD Direct Evidence: marker/mechanism

NCBI chr 9:71,046,038...71,191,296
Ensembl chr 9:71,042,440...71,190,867

G

interleukin 10

CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:23962110 PMID:8704212

NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313

G

interleukin 2

CTD Direct Evidence: marker/mechanism

NCBI chr 2:120,004,862...120,009,566
Ensembl chr 2:120,004,862...120,009,566

G

interleukin 4

CTD Direct Evidence: marker/mechanism

NCBI chr10:37,771,203...37,776,750
Ensembl chr10:37,771,203...37,776,750

G

interleukin 5

disease_progression

protein:increased expression:serum

RGD

NCBI chr10:37,874,342...37,877,213
Ensembl chr10:37,874,342...37,877,213

G

interleukin 6

protein:increased expression:serum (human)

RGD

NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178

G

interferon regulatory factor 4

CTD Direct Evidence: marker/mechanism

NCBI chr17:33,721,800...33,742,570
Ensembl chr17:33,721,811...33,740,070

G

Janus kinase 3

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

RGD

NCBI chr16:18,386,330...18,398,542
Ensembl chr16:18,386,405...18,398,536

G

MYB proto-oncogene, transcription factor

disease_progression

mRNA:splice variants:CD4+ T cell:

RGD

NCBI chr 1:15,939,771...15,973,367
Ensembl chr 1:15,939,761...15,973,057

G

notch receptor 1

DNA:mutations:multiple (human)

RGD

NCBI chr 3:9,277,955...9,323,531
Ensembl chr 3:9,278,086...9,323,531

G

NRAS proto-oncogene, GTPase

disease_progression

RGD

NCBI chr 2:190,582,885...190,593,509
Ensembl chr 2:190,582,918...190,591,626

G

phospholipase C, gamma 1

CTD Direct Evidence: marker/mechanism

NCBI chr 3:149,385,587...149,416,330
Ensembl chr 3:149,385,587...149,416,330

G

protein kinase C, beta

CTD Direct Evidence: marker/mechanism

NCBI chr 1:176,832,173...177,163,539
Ensembl chr 1:176,832,226...177,163,536

G

signal transducer and activator of transcription 3

CTD Direct Evidence: marker/mechanism

NCBI chr10:85,811,206...85,863,057
Ensembl chr10:85,811,218...85,863,057

G

TAL bHLH transcription factor 2

RGD

NCBI chr 5:68,411,012...68,417,569
Ensembl chr 5:68,411,012...68,417,569

G

telomeric repeat binding factor 2

CTD Direct Evidence: marker/mechanism

NCBI chr19:34,976,963...35,005,813
Ensembl chr19:34,977,471...35,005,819

G

T-cell leukemia, homeobox 1

CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:1717256 PMID:1683261

NCBI chr 1:244,005,057...244,011,318
Ensembl chr 1:244,005,057...244,011,318

G

TNF superfamily member 8

CTD Direct Evidence: marker/mechanism

NCBI chr 5:77,250,942...77,277,364
Ensembl chr 5:77,251,373...77,277,421

G

tumor protein p53

GAD

NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524

G

tumor protein p73

CTD Direct Evidence: marker/mechanism

NCBI chr 5:164,621,377...164,703,958
Ensembl chr 5:164,621,377...164,681,128

G

vav guanine nucleotide exchange factor 1

CTD Direct Evidence: marker/mechanism

NCBI chr 9:2,161,985...2,209,951
Ensembl chr 9:2,157,900...2,208,937

agammaglobulinemia

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

B-cell linker

susceptibility

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

CTD
RGD

NCBI chr 1:239,753,640...239,821,113
Ensembl chr 1:239,753,648...239,821,113

G

Bruton tyrosine kinase

susceptibility

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

ClinVar
CTD
RGD

PMID:10352268 PMID:15142874 PMID:8162018

NCBI chr X:97,722,796...97,762,315
Ensembl chr X:97,722,802...97,761,853

G

CD19 molecule

CTD Direct Evidence: marker/mechanism

NCBI chr 1:180,987,286...180,993,920
Ensembl chr 1:180,987,286...180,993,975

G

CD79a molecule

CTD Direct Evidence: marker/mechanism

NCBI chr 1:80,493,581...80,497,936
Ensembl chr 1:80,493,581...80,497,935

G

CD79b molecule

CTD Direct Evidence: marker/mechanism

NCBI chr10:91,239,354...91,242,500
Ensembl chr10:91,239,356...91,242,625

G

leucine rich repeat containing 8 VRAC subunit A

CTD Direct Evidence: marker/mechanism

CTD
RGD

NCBI chr 3:13,509,577...13,537,174
Ensembl chr 3:13,510,513...13,536,202

G

transcription factor 3

CTD Direct Evidence: marker/mechanism

NCBI chr 7:9,280,571...9,302,315
Ensembl chr 7:9,280,571...9,302,314

agammaglobulinemia 1

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

Bruton tyrosine kinase

ClinVar Annotator: match by term: Autosomal recessive agammaglobulinemia 1

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

NCBI chr X:97,722,796...97,762,315
Ensembl chr X:97,722,802...97,761,853

G

CD79a molecule

ClinVar Annotator: match by term: Autosomal recessive agammaglobulinemia 1

PMID:25741868 PMID:28492532

NCBI chr 1:80,493,581...80,497,936
Ensembl chr 1:80,493,581...80,497,935

agammaglobulinemia 10

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

Spi-1 proto-oncogene

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

PMID:25741868 PMID:33951726

NCBI chr 3:77,059,744...77,093,730
Ensembl chr 3:77,073,012...77,092,393

agammaglobulinemia 2

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

similar to human chromosome 22 open reading frame 15

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

NCBI chr20:12,723,160...12,725,864
Ensembl chr20:12,723,160...12,726,059

G

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

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

NCBI chr20:12,725,839...12,727,638
Ensembl chr20:12,725,842...12,732,763

G

derlin 3

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

NCBI chr20:12,754,490...12,768,454
Ensembl chr20:12,763,543...12,767,027

G

macrophage migration inhibitory factor

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

NCBI chr20:12,790,919...12,791,784
Ensembl chr20:12,790,902...12,799,504
Ensembl chr 4:12,790,902...12,799,504

G

matrix metallopeptidase 11

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

NCBI chr20:12,730,846...12,739,629
Ensembl chr20:12,730,836...12,739,628

G

SWI/SNF related BAF chromatin remodeling complex subunit B1

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

NCBI chr20:12,741,164...12,763,616
Ensembl chr20:12,741,477...12,763,620

G

V-set pre-B cell surrogate light chain 3

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

NCBI chr20:12,717,421...12,718,785
Ensembl chr20:12,716,779...12,719,520

agammaglobulinemia 3

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

CD79a molecule

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

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

NCBI chr 1:80,493,581...80,497,936
Ensembl chr 1:80,493,581...80,497,935

G

ribosomal protein S19

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

NCBI chr 1:80,480,718...80,486,511
Ensembl chr 1:80,480,951...80,486,508
Ensembl chr 7:80,480,951...80,486,508

agammaglobulinemia 4

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

aldehyde dehydrogenase 18 family, member A1

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

NCBI chr 1:239,375,657...239,407,956
Ensembl chr 1:239,375,669...239,407,890

G

B-cell linker

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

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

NCBI chr 1:239,753,640...239,821,113
Ensembl chr 1:239,753,648...239,821,113

G

coiled-coil and C2 domain containing 2B

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

NCBI chr 1:239,561,506...239,655,771
Ensembl chr 1:239,561,987...239,682,416

G

cyclin J

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

NCBI chr 1:239,659,588...239,677,367

G

ectonucleoside triphosphate diphosphohydrolase 1

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

NCBI chr 1:239,425,515...239,552,323
Ensembl chr 1:239,425,430...239,552,317

G

tectonic family member 3

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

NCBI chr 1:239,414,003...239,425,273
Ensembl chr 1:239,415,203...239,425,272

G

zinc finger protein 518A

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

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

NCBI chr 1:239,719,305...239,744,978
Ensembl chr 1:239,719,505...239,744,979

agammaglobulinemia 5

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

leucine rich repeat containing 8 VRAC subunit A

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

PMID:24033266 PMID:25741868 PMID:28492532

NCBI chr 3:13,509,577...13,537,174
Ensembl chr 3:13,510,513...13,536,202

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 chr10:91,239,354...91,242,500
Ensembl chr10:91,239,356...91,242,625

agammaglobulinemia 7

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

phosphoinositide-3-kinase regulatory subunit 1

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

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

NCBI chr 2:32,878,942...32,963,668
Ensembl chr 2:32,882,032...32,963,631

Agammaglobulinemia 8

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

transcription factor 3

ClinVar Annotator: match by term: TCF3-related condition

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

NCBI chr 7:9,280,571...9,302,315
Ensembl chr 7:9,280,571...9,302,314

agammaglobulinemia 8A

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

transcription factor 3

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

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

NCBI chr 7:9,280,571...9,302,315
Ensembl chr 7:9,280,571...9,302,314

agammaglobulinemia 8B

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

transcription factor 3

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

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

NCBI chr 7:9,280,571...9,302,315
Ensembl chr 7:9,280,571...9,302,314

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 chr20:4,823,166...4,826,538
Ensembl chr20:4,822,012...4,826,537

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

CTD
RGD

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

NCBI chr 6:22,879,653...23,599,636
Ensembl chr 6:22,880,625...23,598,034

G

heat shock protein 90 alpha family class A member 1

CTD Direct Evidence: marker/mechanism

NCBI chr 6:129,702,376...129,707,907
Ensembl chr 6:129,702,383...129,707,268

G

interferon regulatory factor 4

DNA:translocation

RGD

NCBI chr17:33,721,800...33,742,570
Ensembl chr17:33,721,811...33,740,070

G

JunB proto-oncogene, AP-1 transcription factor subunit

RGD

NCBI chr19:23,176,265...23,178,049
Ensembl chr19:23,176,294...23,178,035

G

nucleophosmin 1

RGD

NCBI chr10:17,741,512...17,751,626
Ensembl chr10:17,739,941...17,751,645
Ensembl chr X:17,739,941...17,751,645

G

RELA proto-oncogene, NF-kB subunit

CTD Direct Evidence: marker/mechanism

NCBI chr 1:202,925,001...202,935,484
Ensembl chr 1:202,924,945...202,935,484

G

signal transducer and activator of transcription 3

CTD Direct Evidence: marker/mechanism

NCBI chr10:85,811,206...85,863,057
Ensembl chr10:85,811,218...85,863,057

G

TNF receptor superfamily member 8

CTD Direct Evidence: marker/mechanism

PMID:10908157 PMID:17261581

NCBI chr 5:157,123,183...157,168,421
Ensembl chr 5:157,123,185...157,168,421

G

twist family bHLH transcription factor 1

CTD Direct Evidence: marker/mechanism

NCBI chr 6:50,674,910...50,676,904
Ensembl chr 6:50,674,678...50,677,653

angioimmunoblastic T-cell lymphoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

tet methylcytosine dioxygenase 2

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

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

NCBI chr 2:221,988,645...222,072,813
Ensembl chr 2:221,988,645...222,072,534

Asrar Facharzt Haque Syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

solute carrier family 29 member 3

ClinVar Annotator: match by term: Asrar Facharzt Haque syndrome

PMID:19175903 PMID:19336477 PMID:19889517 PMID:20595384 PMID:21888995 More...

NCBI chr20:28,645,265...28,685,388
Ensembl chr20:28,647,391...28,685,388

autoimmune lymphoproliferative syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

actin alpha 2, smooth muscle

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

PMID:10875918 PMID:16199547 PMID:18948840 PMID:22237435 PMID:25741868 More...

NCBI chr 1:231,746,527...231,759,307
Ensembl chr 1:231,746,548...231,759,554

G

ankyrin repeat domain 22

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

PMID:10875918 PMID:22237435 PMID:28492532

NCBI chr 1:231,639,035...231,670,537
Ensembl chr 1:231,639,314...231,670,381

G

ankyrin repeat domain 45

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

PMID:22857792 PMID:25451160 PMID:28492532

NCBI chr13:73,424,766...73,450,466
Ensembl chr13:73,424,480...73,450,466

G

similar to human chromosome 1 open reading frame 105

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

PMID:22857792 PMID:25451160 PMID:28492532

NCBI chr13:74,313,320...74,356,322
Ensembl chr13:74,313,322...74,356,322

G

caspase 8

CTD Direct Evidence: marker/mechanism

NCBI chr 9:60,263,863...60,312,542
Ensembl chr 9:60,264,075...60,312,542

G

centromere protein L

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

PMID:22857792 PMID:25451160 PMID:28492532

NCBI chr13:73,337,235...73,352,115
Ensembl chr13:73,337,257...73,352,114

G

cholesterol 25-hydroxylase

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

PMID:10875918 PMID:22237435 PMID:28492532

NCBI chr 1:232,014,877...232,016,195
Ensembl chr 1:232,014,880...232,016,195

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 chr13:73,308,726...73,336,558
Ensembl chr13:73,308,726...73,336,934

G

dynamin 3

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

PMID:22857792 PMID:25451160 PMID:28492532

NCBI chr13:74,359,043...74,838,135
Ensembl chr13:74,359,213...74,838,108

G

Fas cell surface death receptor

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

OMIM
ClinVar
MouseDO
CTD
RGD

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

RGD:12904015, RGD:12903983, RGD:12903956

NCBI chr 1:231,798,963...231,832,591
Ensembl chr 1:231,798,960...231,832,591

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
OMIM:601859
CTD Direct Evidence: marker/mechanism

ClinVar
OMIM
MouseDO
CTD

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

NCBI chr13:74,151,519...74,172,760
Ensembl chr13:74,154,954...74,162,215

G

growth arrest specific 5

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

PMID:22857792 PMID:25451160 PMID:28492532

NCBI chr13:73,303,611...73,306,932

G

interferon-induced protein with tetratricopeptide repeats 1

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

NCBI chr 1:232,152,038...232,154,103
Ensembl chr 1:232,127,170...232,154,435

G

interferon-induced protein with tetratricopeptide repeats 2

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

PMID:10875918 PMID:22237435 PMID:28492532

NCBI chr 1:232,102,570...232,108,638
Ensembl chr 1:232,102,570...232,108,635

G

interferon-induced protein with tetratricopeptide repeats 3

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

PMID:10875918 PMID:22237435 PMID:28492532

NCBI chr 1:232,114,166...232,119,311
Ensembl chr 1:232,114,166...232,119,307

G

IL2-inducible T-cell kinase

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

NCBI chr10:30,753,344...30,814,685
Ensembl chr10:30,753,344...30,814,685

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 chr13:73,363,451...73,408,293
Ensembl chr13:73,363,455...73,408,337

G

lipase A, lysosomal acid type

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

PMID:10875918 PMID:22237435 PMID:28492532

NCBI chr 1:232,024,351...232,057,735
Ensembl chr 1:232,024,356...232,057,633

G

lipase F, gastric type

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

NCBI chr 1:231,493,498...231,511,845
Ensembl chr 1:231,493,498...231,511,845

G

lipase family member J

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

NCBI chr 1:231,363,526...231,376,784
Ensembl chr 1:231,363,646...231,376,784

G

lipase, family member K

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

NCBI chr 1:231,532,893...231,564,567
Ensembl chr 1:231,532,893...231,564,567

G

lipase, family member M

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

PMID:10875918 PMID:22237435 PMID:28492532

NCBI chr 1:231,618,145...231,637,599
Ensembl chr 1:231,618,284...231,637,410

G

lipase, family member N

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

PMID:10875918 PMID:22237435 PMID:28492532

NCBI chr 1:231,584,950...231,603,456
Ensembl chr 1:231,584,956...231,603,468

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 chr13:74,886,151...74,899,937
Ensembl chr13:74,886,155...74,899,870

G

microRNA 199a-2

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

PMID:22857792 PMID:25451160 PMID:28492532

NCBI chr13:74,582,954...74,583,063
Ensembl chr13:74,582,954...74,583,063

G

microRNA 214

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

PMID:22857792 PMID:25451160 PMID:28492532

NCBI chr13:74,588,374...74,588,481
Ensembl chr13:74,588,372...74,588,481

G

microRNA 3120

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

PMID:22857792 PMID:25451160 PMID:28492532

NCBI chr13:74,588,376...74,588,492
Ensembl chr13:74,588,372...74,588,481

G

matrix metallopeptidase 9

disease_progression

RGD

NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120

G

myocilin

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

PMID:22857792 PMID:25451160 PMID:28492532

NCBI chr13:74,976,730...74,987,128
Ensembl chr13:74,976,730...74,987,127

G

NRAS proto-oncogene, GTPase

CTD Direct Evidence: marker/mechanism

NCBI chr 2:190,582,885...190,593,509
Ensembl chr 2:190,582,918...190,591,626

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 chr13:74,343,619...74,346,148
Ensembl chr13:74,296,854...74,346,211

G

peroxiredoxin 6

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

PMID:22857792 PMID:25451160 PMID:28492532

NCBI chr13:73,528,746...73,539,295
Ensembl chr13:73,528,210...73,539,355

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 chr13:73,174,075...73,245,762
Ensembl chr13:73,173,946...73,238,839

G

renalase, FAD-dependent amine oxidase

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

NCBI chr 1:231,037,481...231,309,855
Ensembl chr 1:231,037,486...231,309,823

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 chr13:73,257,208...73,271,476
Ensembl chr13:73,257,179...73,284,293

G

solute carrier family 16, member 12

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

NCBI chr 1:232,184,004...232,262,170
Ensembl chr 1:232,185,907...232,262,141

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 chr13:73,424,683...73,524,244
Ensembl chr13:73,451,115...73,524,239

G

STAM binding protein-like 1

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

PMID:10875918 PMID:22237435 PMID:28492532

NCBI chr 1:231,699,620...231,745,034
Ensembl chr 1:231,699,995...231,745,032

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 chr13:74,192,808...74,257,896
Ensembl chr13:74,193,573...74,257,896

G

TNF superfamily member 18

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

PMID:22857792 PMID:25451160 PMID:28492532

NCBI chr13:73,833,478...73,907,249
Ensembl chr13:73,831,252...73,843,169

G

TNF superfamily member 4

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

PMID:22857792 PMID:25451160 PMID:28492532

NCBI chr13:73,723,329...73,746,809
Ensembl chr13:73,723,329...73,746,788

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 chr13:74,919,872...74,942,791
Ensembl chr13:74,919,880...74,933,686

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 chr13:73,271,920...73,303,427
Ensembl chr13:73,280,544...73,337,124

autoimmune lymphoproliferative syndrome type 2B

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

abl-interactor 2

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

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

NCBI chr 9:61,827,186...61,905,703
Ensembl chr 9:61,827,139...61,905,699

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 chr 9:60,613,182...60,686,394
Ensembl chr 9:60,613,167...60,670,737

G

bone morphogenetic protein receptor type 2

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

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

NCBI chr 9:61,192,718...61,307,280
Ensembl chr 9:61,190,566...61,301,809

G

C2 calcium dependent domain containing 6

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

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

NCBI chr 9:60,434,926...60,530,842
Ensembl chr 9:60,434,925...60,530,806

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 chr 9:61,502,368...61,552,433
Ensembl chr 9:61,506,956...61,550,462

G

caspase 8

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

OMIM
MouseDO
ClinVar

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

NCBI chr 9:60,263,863...60,312,542
Ensembl chr 9:60,264,075...60,312,542

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 chr 9:62,166,324...62,194,674
Ensembl chr 9:62,166,192...62,194,685

G

cyclin-dependent kinase 15

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

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

NCBI chr 9:60,710,787...60,803,638
Ensembl chr 9:60,711,715...60,802,777

G

CASP8 and FADD-like apoptosis regulator

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

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

NCBI chr 9:60,185,338...60,236,173
Ensembl chr 9:60,185,452...60,237,034

G

cytotoxic T-lymphocyte-associated protein 4

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

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

NCBI chr 9:62,318,874...62,325,978
Ensembl chr 9:62,319,312...62,324,963

G

cytochrome P450, family 20, subfamily a, polypeptide 1

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

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

NCBI chr 9:61,755,804...61,805,123
Ensembl chr 9:61,755,790...61,805,123

G

family with sequence similarity 117, member B

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

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

NCBI chr 9:61,340,284...61,418,531
Ensembl chr 9:61,340,249...61,408,483

G

flagellum associated containing coiled-coil domains 1

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

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

NCBI chr 9:60,315,581...60,343,692
Ensembl chr 9:60,315,582...60,343,648

G

frizzled class receptor 7

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

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

NCBI chr 9:60,931,433...60,934,252
Ensembl chr 9:60,930,875...60,935,781

G

islet cell autoantigen 1-like

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

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

NCBI chr 9:61,410,959...61,469,884
Ensembl chr 9:61,412,091...61,470,134

G

inducible T-cell co-stimulator

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

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

NCBI chr 9:62,368,075...62,406,900
Ensembl chr 9:62,383,832...62,405,672

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 chr 9:60,569,734...60,613,035
Ensembl chr 9:60,569,734...60,611,797

G

neurobeachin-like 1

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

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

NCBI chr 9:61,575,154...61,743,896
Ensembl chr 9:61,575,356...61,736,750

G

NADH:ubiquinone oxidoreductase subunit B3

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

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

NCBI chr 9:60,129,240...60,139,452
Ensembl chr 9:60,129,154...60,139,446

G

NOP58 ribonucleoprotein

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

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

NCBI chr 9:61,120,939...61,144,810
Ensembl chr 9:61,120,929...61,144,810

G

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

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

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

NCBI chr 9:61,907,476...61,990,170
Ensembl chr 9:61,907,758...61,961,209

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 chr 9:60,414,182...60,433,084
Ensembl chr 9:60,414,182...60,433,084

G

small ubiquitin-like modifier 1

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

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

NCBI chr 9:61,078,790...61,108,697
Ensembl chr 9:61,077,435...61,108,761

G

transmembrane protein 237

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

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

NCBI chr 9:60,533,348...60,569,253
Ensembl chr 9:60,535,233...60,572,567

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 chr 9:60,348,531...60,414,036
Ensembl chr 9:60,350,012...60,413,996

G

WD repeat domain 12

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

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

NCBI chr 9:61,475,498...61,502,762
Ensembl chr 9:61,475,517...61,502,469

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 chr16:5,769,217...5,799,380
Ensembl chr16:5,769,215...5,799,352

G

RFT1 homolog

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

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

NCBI chr16:5,827,063...5,861,120
Ensembl chr16:5,827,088...5,861,120

autoimmune lymphoproliferative syndrome type 4

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

KRAS proto-oncogene, GTPase

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

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

NCBI chr 4:178,185,418...178,218,484

G

NRAS proto-oncogene, GTPase

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

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

NCBI chr 2:190,582,885...190,593,509
Ensembl chr 2:190,582,918...190,591,626

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 chr 1:231,798,963...231,832,591
Ensembl chr 1:231,798,960...231,832,591

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 chr13:74,151,519...74,172,760
Ensembl chr13:74,154,954...74,162,215

Autoimmune Lymphoproliferative Syndrome, Type V

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

abl-interactor 2

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

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

NCBI chr 9:61,827,186...61,905,703
Ensembl chr 9:61,827,139...61,905,699

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 chr 9:60,613,182...60,686,394
Ensembl chr 9:60,613,167...60,670,737

G

bone morphogenetic protein receptor type 2

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

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

NCBI chr 9:61,192,718...61,307,280
Ensembl chr 9:61,190,566...61,301,809

G

C2 calcium dependent domain containing 6

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

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

NCBI chr 9:60,434,926...60,530,842
Ensembl chr 9:60,434,925...60,530,806

G

calcium responsive transcription factor

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

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

NCBI chr 9:61,502,368...61,552,433
Ensembl chr 9:61,506,956...61,550,462

G

caspase 8

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

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

NCBI chr 9:60,263,863...60,312,542
Ensembl chr 9:60,264,075...60,312,542

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 chr 9:62,166,324...62,194,674
Ensembl chr 9:62,166,192...62,194,685

G

cyclin-dependent kinase 15

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

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

NCBI chr 9:60,710,787...60,803,638
Ensembl chr 9:60,711,715...60,802,777

G

CASP8 and FADD-like apoptosis regulator

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

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

NCBI chr 9:60,185,338...60,236,173
Ensembl chr 9:60,185,452...60,237,034

G

cytotoxic T-lymphocyte-associated protein 4

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

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

NCBI chr 9:62,318,874...62,325,978
Ensembl chr 9:62,319,312...62,324,963

G

cytochrome P450, family 20, subfamily a, polypeptide 1

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

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

NCBI chr 9:61,755,804...61,805,123
Ensembl chr 9:61,755,790...61,805,123

G

family with sequence similarity 117, member B

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

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

NCBI chr 9:61,340,284...61,418,531
Ensembl chr 9:61,340,249...61,408,483

G

flagellum associated containing coiled-coil domains 1

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

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

NCBI chr 9:60,315,581...60,343,692
Ensembl chr 9:60,315,582...60,343,648

G

frizzled class receptor 7

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

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

NCBI chr 9:60,931,433...60,934,252
Ensembl chr 9:60,930,875...60,935,781

G

islet cell autoantigen 1-like

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

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

NCBI chr 9:61,410,959...61,469,884
Ensembl chr 9:61,412,091...61,470,134

G

inducible T-cell co-stimulator

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

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

NCBI chr 9:62,368,075...62,406,900
Ensembl chr 9:62,383,832...62,405,672

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 chr 9:60,569,734...60,613,035
Ensembl chr 9:60,569,734...60,611,797

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neurobeachin-like 1

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

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

NCBI chr 9:61,575,154...61,743,896
Ensembl chr 9:61,575,356...61,736,750

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NADH:ubiquinone oxidoreductase subunit B3

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

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

NCBI chr 9:60,129,240...60,139,452
Ensembl chr 9:60,129,154...60,139,446

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NOP58 ribonucleoprotein

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

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

NCBI chr 9:61,120,939...61,144,810
Ensembl chr 9:61,120,929...61,144,810

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

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

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

NCBI chr 9:61,907,476...61,990,170
Ensembl chr 9:61,907,758...61,961,209

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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 chr 9:60,414,182...60,433,084
Ensembl chr 9:60,414,182...60,433,084

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small ubiquitin-like modifier 1

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

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

NCBI chr 9:61,078,790...61,108,697
Ensembl chr 9:61,077,435...61,108,761

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transmembrane protein 237

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

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

NCBI chr 9:60,533,348...60,569,253
Ensembl chr 9:60,535,233...60,572,567

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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 chr 9:60,348,531...60,414,036
Ensembl chr 9:60,350,012...60,413,996

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WD repeat domain 12

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

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

NCBI chr 9:61,475,498...61,502,762
Ensembl chr 9:61,475,517...61,502,469

Autoinflammation with Episodic Fever and Lymphadenopathy

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

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receptor interacting serine/threonine kinase 1

ClinVar Annotator: match by term: Autoinflammation with episodic fever and lymphadenopathy | ClinVar Annotator: match by term: RIPK1-related condition

PMID:25741868 PMID:28492532 PMID:30591564 PMID:31827280 PMID:31827281 More...

NCBI chr17:30,839,639...30,871,824
Ensembl chr17:30,839,650...30,871,824

autosomal recessive osteopetrosis 7

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

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TNF receptor superfamily member 11A

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

OMIM
CTD
ClinVar

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

NCBI chr13:21,928,370...21,986,719
Ensembl chr13:21,928,408...21,986,695

B-cell acute lymphoblastic leukemia

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

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ERCC excision repair 4, endonuclease catalytic subunit

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

PMID:23623386 PMID:25741868

NCBI chr10:2,416,259...2,448,364
Ensembl chr10:2,419,038...2,448,369
Ensembl chr10:2,419,038...2,448,369

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neurofibromin 1

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

PMID:9536098 PMID:17576681 PMID:23656349 PMID:25741868 PMID:28492532

NCBI chr10:64,306,027...64,539,112
Ensembl chr10:64,306,301...64,536,658

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WT1 transcription factor

ClinVar Annotator: match by term: B Acute Lymphoblastic Leukemia

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

NCBI chr 3:91,566,540...91,613,653
Ensembl chr 3:91,567,001...91,613,643

B-Cell Chronic Lymphocytic Leukemia

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

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ATP binding cassette subfamily G member 2

susceptibility

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

RGD

NCBI chr 4:87,676,241...87,802,757
Ensembl chr 4:87,745,319...87,802,409

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acyl-CoA oxidase-like

CTD Direct Evidence: marker/mechanism

NCBI chr 3:115,061,069...115,367,032
Ensembl chr 3:115,061,060...115,364,686

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activation-induced cytidine deaminase

disease_progression

RGD

NCBI chr 4:155,774,132...155,783,972
Ensembl chr 4:155,774,132...155,783,972

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apolipoprotein E

disease_progression

RGD

NCBI chr 1:79,353,924...79,357,852
Ensembl chr 1:79,353,916...79,357,932

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ATM serine/threonine kinase

CTD Direct Evidence: marker/mechanism

NCBI chr 8:53,828,741...53,932,773
Ensembl chr 8:53,831,093...53,932,437

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BCL11 transcription factor A

DNA:translocation:5' utr: (human)

RGD

NCBI chr14:98,029,018...98,124,181
Ensembl chr14:98,030,461...98,124,180

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BCL2, apoptosis regulator

treatment
severity
no_association

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

CTD
RGD

PMID:21750559 PMID:23770605 PMID:17296974 PMID:20001236 PMID:17959858 More...

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

NCBI chr13:22,689,783...22,853,920
Ensembl chr13:22,684,989...22,853,743
Ensembl chr13:22,684,989...22,853,743

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Bcl2 modifying factor

CTD Direct Evidence: marker/mechanism

NCBI chr 3:105,499,534...105,520,159
Ensembl chr 3:105,499,538...105,520,145

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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 chr 4:68,375,484...68,510,652
Ensembl chr 4:68,384,649...68,510,463

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Bruton tyrosine kinase

treatment

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

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

NCBI chr X:97,722,796...97,762,315
Ensembl chr X:97,722,802...97,761,853

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Cbl proto-oncogene

severity

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

RGD

PMID:17804547 PMID:17804547

RGD:11038803, RGD:11038803

NCBI chr 8:44,487,824...44,571,620
Ensembl chr 8:44,489,410...44,571,176

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coiled-coil domain containing 50

RGD

NCBI chr11:73,332,798...73,395,333
Ensembl chr11:73,334,248...73,395,150

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CD40 molecule

RGD

NCBI chr 3:153,790,372...153,805,279
Ensembl chr 3:153,790,449...153,805,534

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CD40 ligand

mouse-human chimeric gene in human

RGD

NCBI chr X:135,127,052...135,138,768
Ensembl chr X:135,126,969...135,138,306

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Cd5 molecule

CTD Direct Evidence: marker/mechanism

NCBI chr 1:207,365,337...207,386,313
Ensembl chr 1:207,365,337...207,386,313

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CD79b molecule

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

RGD

PMID:9269755 PMID:10552962 PMID:10090943

RGD:11250403, RGD:151665202, RGD:151665190

NCBI chr10:91,239,354...91,242,500
Ensembl chr10:91,239,356...91,242,625

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CD86 molecule

severity

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

RGD

NCBI chr11:64,142,193...64,200,816
Ensembl chr11:64,163,828...64,200,818

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cytoplasmic polyadenylation element binding protein 1

CTD Direct Evidence: marker/mechanism

NCBI chr 1:135,300,048...135,407,688
Ensembl chr 1:135,300,461...135,409,760

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cytotoxic T-lymphocyte-associated protein 4

protein:increased expression:T cell

RGD

PMID:16094420 PMID:15914560

RGD:11344923, RGD:11352246

NCBI chr 9:62,318,874...62,325,978
Ensembl chr 9:62,319,312...62,324,963

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dyskerin pseudouridine synthase 1

RGD

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DNA methyltransferase 3 beta

mRNA:decreased expression: B cell

RGD

NCBI chr 3:142,130,588...142,169,128
Ensembl chr 3:142,130,592...142,169,124

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ERCC excision repair 2, TFIIH core complex helicase subunit

severity

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

RGD

PMID:22739018 PMID:19484764

RGD:11252203, RGD:11252204

NCBI chr 1:79,033,342...79,047,102
Ensembl chr 1:79,033,326...79,047,102

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FERM, ARH/RhoGEF and pleckstrin domain protein 2

CTD Direct Evidence: marker/mechanism

NCBI chr 9:94,053,650...94,161,982
Ensembl chr 9:94,053,726...94,162,212

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