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RGD DISEASE ONTOLOGY - ANNOTATIONS

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:lymphoproliferative syndrome
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Accession:DOID:0060704 term browser browse the term
Definition:A primary immunodeficiency disease characterized by immune dysregulation typically after viral infection, usually associated with Epstein-Barr viral infection. (DO)
Synonyms:exact_synonym: Combined immunodeficiency due to ITK deficiency;   Duncan disease;   Duncan's syndrome;   EBVS;   Epstein Barr Virus Induced Lymphoproliferative Disease In Males;   Epstein Barr Virus Infection, Familial Fatal;   Familial Fatal Epstein Barr Infection;   IMD5;   INFECTIOUS MONONUCLEOSIS, SEVERE, SUSCEPTIBILITY TO;   Immunodeficiency 5;   Immunodeficiency, X Linked Progressive Combined Variable;   LYP;   Lymphoproliferative Disorder;   Purtilo Syndrome;   Purtilo Syndromes;   X Linked Lymphoproliferative Disease;   X-linked lymphoproliferative diseases;   X-linked lymphoproliferative disorder;   X-linked lymphoproliferative disorders;   X-linked lymphoproliferative syndrome;   X-linked lymphoproliferative syndromes;   XLP;   XLPD;   lymphoproliferative disorders
 related_synonym: EBV infection, severe, susceptibility to;   Lymphoproliferative disorders, susceptibility to
 primary_id: MESH:D008232
 xref: MIM:PS308240;   ORDO:538963


show annotations for term's descendants           Sort by:
lymphoproliferative syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G B2M beta-2-microglobulin ISO associated with Herpesviridae Infections
associated with kidney transplantation		 RGD PMID:9067691 PMID:16282467 RGD:6482705 RGD:6483039 NCBI chr15:23,668,108...23,674,791
Ensembl chr15:41,836,345...41,842,991 		JBrowse link
G CCL22 C-C motif chemokine ligand 22 ISO CTD Direct Evidence: marker/mechanism CTD PMID:35534561 NCBI chr16:37,631,861...37,640,208
Ensembl chr16:56,765,367...56,771,213 		JBrowse link
G FAS Fas cell surface death receptor susceptibility ISO DNA:deletions RGD PMID:7539157 PMID:15148335 RGD:11049166 RGD:1600310 NCBI chr10:85,707,457...85,741,539
Ensembl chr10:89,217,949...89,243,612 		JBrowse link
G FLT3 fms related receptor tyrosine kinase 3 ISO RGD PMID:15718420 RGD:11049481 NCBI chr13:9,283,747...9,381,553
Ensembl chr13:27,627,178...27,723,940 		JBrowse link
G IFNG interferon gamma ISO CTD Direct Evidence: marker/mechanism CTD PMID:22617429 NCBI chr12:65,663,764...65,668,732
Ensembl chr12:68,448,861...68,453,829 		JBrowse link
G IL17A interleukin 17A ISO CTD Direct Evidence: marker/mechanism CTD PMID:22617429 NCBI chr 6:51,736,269...51,740,538
Ensembl chr 6:53,004,820...53,009,074 		JBrowse link
G ITK IL2 inducible T cell kinase ISO ClinVar Annotator: match by term: Lymphoproliferative disorder ClinVar NCBI chr 5:152,582,125...152,656,211
Ensembl chr 5:159,204,016...159,277,689 		JBrowse link
G KLRK1 killer cell lectin like receptor K1 disease_progression ISO associated with Postoperative Complications and Epstein-Barr Virus Infections; protein:decreased expression:peripheral blood mononuclear cell, natural killer cell (human) RGD PMID:22105417 RGD:39128180 NCBI chr12:10,411,932...10,429,256
Ensembl chr12:10,662,424...10,699,078 		JBrowse link
G NCR1 natural cytotoxicity triggering receptor 1 disease_progression ISO associated with Postoperative Complications and Epstein-Barr Virus Infections; protein:decreased expression:peripheral blood mononuclear cell, natural killer cell (human) RGD PMID:22105417 RGD:39128180 NCBI chr19:51,951,496...51,957,433
Ensembl chr19:60,645,677...60,652,274 		JBrowse link
G NTRK1 neurotrophic receptor tyrosine kinase 1 ISO ClinVar Annotator: match by term: Duncan disease ClinVar PMID:25741868 Ensembl chr 1:136,007,476...136,047,355 JBrowse link
G SH2D1A SH2 domain containing 1A ISO ClinVar Annotator: match by term: Duncan disease | ClinVar Annotator: match by term: Epstein Barr virus infection familial fatal | ClinVar Annotator: match by term: Lymphoproliferative disorder | ClinVar Annotator: match by term: X-linked lymphoproliferative syndrome ClinVar PMID:3374620 PMID:3658675 PMID:9536098 PMID:9771704 PMID:9811875 More... NCBI chr  X:113,538,321...113,565,468
Ensembl chr  X:123,712,932...123,739,419 		JBrowse link
G SH2D2A SH2 domain containing 2A ISO ClinVar Annotator: match by term: Duncan disease ClinVar PMID:25741868 NCBI chr 1:132,149,450...132,160,280
Ensembl chr 1:135,972,824...135,981,754 		JBrowse link
G SLC11A1 solute carrier family 11 member 1 ISO DNA:deletion:3' utr:*55_*58delTGTG (human) RGD PMID:16734634 RGD:5684949 NCBI chr2B:105,640,613...105,655,524
Ensembl chr2B:224,238,284...224,252,941 		JBrowse link
G STAT3 signal transducer and activator of transcription 3 ISO RGD PMID:22859607 RGD:6892715 NCBI chr17:14,928,689...15,003,644
Ensembl chr17:15,152,358...15,227,067 		JBrowse link
G TAP2 transporter 2, ATP binding cassette subfamily B member susceptibility ISO DNA:nonsense mutation RGD PMID:10560675 RGD:1601413 NCBI chr 6:32,394,586...32,408,297
Ensembl chr 6:33,507,332...33,523,750 		JBrowse link
G XIAP X-linked inhibitor of apoptosis ISO ClinVar Annotator: match by term: Duncan disease | ClinVar Annotator: match by term: Lymphoproliferative disorder ClinVar PMID:25741868 PMID:28492532 NCBI chr  X:113,052,164...113,105,160
Ensembl chr  X:123,232,643...123,278,606 		JBrowse link
acute biphenotypic leukemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DOT1L DOT1 like histone lysine methyltransferase treatment ISO RGD PMID:23801631 RGD:9588291 NCBI chr19:1,173,915...1,243,633
Ensembl chr19:2,147,031...2,210,039 		JBrowse link
G RNF20 ring finger protein 20 disease_progression ISO RGD PMID:23412334 RGD:9831405 NCBI chr 9:72,738,132...72,767,868
Ensembl chr 9:100,732,342...100,761,258 		JBrowse link
acute leukemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit ISO ClinVar Annotator: match by term: Mixed Phenotype Acute Leukemia, T/Myeloid, Not Otherwise Specified ClinVar PMID:7585650 PMID:8571952 PMID:9195225 PMID:9238033 PMID:15982307 More... NCBI chr19:42,298,927...42,319,816
Ensembl chr19:50,897,004...50,915,819 		JBrowse link
acute lymphoblastic leukemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCB1 ATP binding cassette subfamily B member 1 susceptibility ISO DNA:snps, haplotype:multiple (human)
CTD Direct Evidence: marker/mechanism		 RGD
CTD		 PMID:22674224 RGD:8657089 NCBI chr 7:79,497,536...79,706,277
Ensembl chr 7:93,147,950...93,243,238 		JBrowse link
G ABCC2 ATP binding cassette subfamily C member 2 treatment ISO DNA:SNPs: :rs717620(human)
DNA:SNP:5'UTR:rs717620(human)		 RGD PMID:24404132 PMID:25007187 RGD:11080959 RGD:11080979 NCBI chr10:96,385,534...96,458,571
Ensembl chr10:99,889,160...99,947,270 		JBrowse link
G ABCG2 ATP binding cassette subfamily G member 2 (JR blood group) disease_progression ISO mRNA:increased expression:mononuclear cell: RGD PMID:12100141 PMID:15521915 RGD:11081076 RGD:11081143 NCBI chr 4:80,379,108...80,446,641
Ensembl chr 4:91,101,321...91,170,157 		JBrowse link
G ABL1 ABL proto-oncogene 1, non-receptor tyrosine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:11984797 PMID:21898527 NCBI chr 9:101,834,189...102,005,811
Ensembl chr 9:130,484,333...130,652,941 		JBrowse link
G ABO ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase susceptibility ISO RGD PMID:17065136 RGD:11100012 NCBI chr 9:104,354,115...104,399,057
Ensembl chr 9:132,989,574...133,010,324 		JBrowse link
G AICDA activation induced cytidine deaminase treatment ISO RGD PMID:19759560 RGD:11039451 NCBI chr12:8,688,392...8,699,008
Ensembl chr12:8,904,273...8,913,917 		JBrowse link
G ARID5B AT-rich interaction domain 5B ISO CTD Direct Evidence: marker/mechanism CTD PMID:19684603 PMID:19684604 NCBI chr10:58,426,519...58,621,986
Ensembl chr10:60,756,484...60,952,174 		JBrowse link
G ARNT aryl hydrocarbon receptor nuclear translocator ISO CTD Direct Evidence: marker/mechanism CTD PMID:22674224 NCBI chr 1:126,160,017...126,226,222
Ensembl chr 1:129,809,431...129,875,629 		JBrowse link
G BAX BCL2 associated X, apoptosis regulator ISO OMIM NCBI chr19:45,955,926...45,962,870
Ensembl chr19:54,793,594...54,800,468 		JBrowse link
G BCL2 BCL2 apoptosis regulator severity ISO mRNA:increased expression:bone marrow (human) RGD PMID:25982455 RGD:11076595 NCBI chr18:56,481,212...56,679,012
Ensembl chr18:59,802,443...59,992,100 		JBrowse link
G BCL2L1 BCL2 like 1 treatment ISO mRNA:increased expression:blood, mononuclear cell (human) RGD PMID:12469194 PMID:19020783 RGD:11353852 RGD:11353866 NCBI chr20:27,955,688...28,015,950
Ensembl chr20:29,088,055...29,146,585 		JBrowse link
G BCR BCR activator of RhoGEF and GTPase ISO OMIM
G CASP8 caspase 8 ISO CTD Direct Evidence: therapeutic CTD PMID:22010212 NCBI chr2B:88,490,611...88,542,132
Ensembl chr2B:206,669,544...206,696,468 		JBrowse link
G CAST calpastatin ISO protein:increased expresssion:B cell RGD PMID:11264179 RGD:5509822 NCBI chr 5:91,972,572...92,084,657
Ensembl chr 5:97,527,071...97,636,650 		JBrowse link
G CCND1 cyclin D1 ISO mRNA:increased expression:bone marrow (human) RGD PMID:22391157 RGD:11352824 NCBI chr11:64,737,006...64,750,353 JBrowse link
G CD40LG CD40 ligand ISO RGD PMID:9292526 RGD:11352271 NCBI chr  X:125,776,138...125,788,820
Ensembl chr  X:136,042,849...136,058,202 		JBrowse link
G CD46 CD46 molecule ISO protein:increased expression:peripheral blood mononuclear cell (human) RGD PMID:16353080 RGD:11352810 NCBI chr 1:183,330,423...183,373,916
Ensembl chr 1:188,031,758...188,182,046 		JBrowse link
G CD79B CD79b molecule ISO protein:decreased expression:bone marrow, mononuclear cell (human) RGD PMID:21487112 RGD:11250414 NCBI chr17:58,022,375...58,026,359
Ensembl chr17:63,116,722...63,120,335 		JBrowse link
G CD86 CD86 molecule severity ISO protein:increased expression:peripheral blood, bone marrow, mononuclear cell (human) RGD PMID:24283754 RGD:11354967 NCBI chr 3:119,151,884...119,217,641
Ensembl chr 3:126,059,008...126,124,339 		JBrowse link
G CDK6 cyclin dependent kinase 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24736461 NCBI chr 7:84,603,419...84,835,082 JBrowse link
G CDKN2A cyclin dependent kinase inhibitor 2A susceptibility
disease_progression
no_association		 ISO DNA:missense mutations:cds:
ClinVar Annotator: match by term: Acute lymphocytic leukemia | ClinVar Annotator: match by term: Acute lymphoid leukemia
DNA:deletion: :		 RGD
ClinVar		 PMID:7566978 PMID:7647780 PMID:7718873 PMID:7987387 PMID:8573142 More... RGD:11057958 RGD:11251764 RGD:11252081 RGD:11252082 NCBI chr 9:21,803,862...21,831,322 JBrowse link
G CDKN2B cyclin dependent kinase inhibitor 2B ISO ClinVar Annotator: match by term: Acute lymphoid leukemia ClinVar PMID:27993330 NCBI chr 9:21,838,902...21,845,355
Ensembl chr 9:22,455,662...22,462,156 		JBrowse link
G CEBPE CCAAT enhancer binding protein epsilon ISO CTD Direct Evidence: marker/mechanism CTD PMID:19684604 NCBI chr14:3,937,200...3,939,112
Ensembl chr14:22,033,654...22,035,219 		JBrowse link
G CFB complement factor B ISO DNA:missense mutation:p.R32Q b(human) RGD PMID:6958349 RGD:11041155 NCBI chr 6:31,606,716...31,612,782 JBrowse link
G CREBBP CREB binding protein disease_progression ISO DNA:mutations:multiple RGD PMID:25917266 RGD:11060149 NCBI chr16:2,645,445...2,800,975
Ensembl chr16:3,820,519...3,974,206 		JBrowse link
G CSF3 colony stimulating factor 3 treatment ISO RGD PMID:9250830 RGD:11039038 NCBI chr17:17,271,074...17,273,493
Ensembl chr17:17,491,276...17,493,729 		JBrowse link
G CSPG4 chondroitin sulfate proteoglycan 4 severity ISO RGD PMID:8562939 RGD:734840 NCBI chr15:54,583,010...54,621,240
Ensembl chr15:74,177,909...74,200,498 		JBrowse link
G CYP1A1 cytochrome P450 family 1 subfamily A member 1 susceptibility
no_association		 ISO DNA:polymorphism:3"UTR:rs4646903(human)
DNA:polymorphism:3'UTR:3801T>C(human)
DNA:polymorphism:cds:2452C>A(p.T461N)(human)		 RGD PMID:16676594 PMID:22964275 PMID:23725389 RGD:11352714 RGD:11352725 RGD:11352728 NCBI chr15:53,664,968...53,672,277
Ensembl chr15:73,284,566...73,290,636 		JBrowse link
G CYP1A2 cytochrome P450 family 1 subfamily A member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22674224 NCBI chr15:53,692,877...53,699,279
Ensembl chr15:73,311,720...73,319,447 		JBrowse link
G CYP1B1 cytochrome P450 family 1 subfamily B member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22674224 NCBI chr2A:38,087,863...38,096,529
Ensembl chr2A:38,851,000...38,859,824 		JBrowse link
G CYP2C8 cytochrome P450 family 2 subfamily C member 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22674224 NCBI chr10:91,646,387...91,679,998
Ensembl chr10:95,157,661...95,186,620 		JBrowse link
G CYP2E1 cytochrome P450 family 2 subfamily E member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11774269 Ensembl chr10:134,839,025...134,852,719 JBrowse link
G CYP3A5 cytochrome P450 family 3 subfamily A member 5 susceptibility
disease_progression		 ISO DNA:polymorphism: : RGD PMID:19650988 PMID:22215203 RGD:11353796 RGD:11353805 NCBI chr 7:91,621,561...91,654,164
Ensembl chr 7:105,123,437...105,155,322 		JBrowse link
G DHFR dihydrofolate reductase disease_progression ISO DNA:polymorphisms: :-317A>G, 829C>T (human)
DNA:polymorphisms, haplotype:promoter:		 RGD PMID:9226157 PMID:12972803 PMID:19861437 PMID:22969948 RGD:11039542 RGD:11039543 RGD:11039544 RGD:11039545 NCBI chr 5:34,663,210...34,689,467
Ensembl chr 5:34,938,548...34,967,003 		JBrowse link
G DNMT3A DNA methyltransferase 3 alpha treatment ISO DNA:mutations:exon, intron:p.R882(human) RGD PMID:25242092 RGD:11041125 NCBI chr2A:25,229,593...25,344,733
Ensembl chr2A:25,331,095...25,412,605 		JBrowse link
G DNTT DNA nucleotidylexotransferase ISO protein:increased activity:peripheral blood,bone marrow: RGD PMID:7020399 RGD:8694149 NCBI chr10:92,916,783...92,958,216
Ensembl chr10:96,423,819...96,457,742 		JBrowse link
G DPYD dihydropyrimidine dehydrogenase disease_progression
no_association		 ISO DNA:splice-site mutation:intron:IVS14+1G>A (human)
DNA:SNPs: :2194G>A, 1156G>T (human)
DNA:SNP: :85T>C (human)		 RGD PMID:26846104 RGD:11098453 NCBI chr 1:99,736,145...100,576,663
Ensembl chr 1:98,457,934...99,300,100 		JBrowse link
G EHMT1 euchromatic histone lysine methyltransferase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:32889036 NCBI chr 9:108,724,568...108,951,077
Ensembl chr 9:137,764,950...137,895,564 		JBrowse link
G EHMT2 euchromatic histone lysine methyltransferase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:32889036 NCBI chr 6:31,542,946...31,560,894
Ensembl chr 6:32,429,271...32,451,844 		JBrowse link
G ENG endoglin disease_progression ISO RGD PMID:17572488 RGD:11041565 NCBI chr 9:98,934,080...98,973,862
Ensembl chr 9:127,605,608...127,644,641 		JBrowse link
G EPHX1 epoxide hydrolase 1 susceptibility
no_association		 ISO CTD Direct Evidence: marker/mechanism
DNA:SNPs:exon:rs1051740, rs2234922 (human)
DNA:missense mutation, haplotype:exon:p.Y113H (human)
DNA:polymorphisms:exon
DNA:missense mutation, haplotype:exon:p.H139R (human)		 CTD
RGD		 PMID:19593802 PMID:21983886 PMID:22200898 PMID:22930568 RGD:11252110 RGD:11252111 RGD:11252113 RGD:11252114 NCBI chr 1:201,271,366...201,306,635
Ensembl chr 1:206,272,866...206,307,581 		JBrowse link
G ERCC1 ERCC excision repair 1, endonuclease non-catalytic subunit susceptibility ISO DNA:SNPs: :8092C>A, 19007G>A (human)
DNA:SNPs, haplotypes: :p.R194W, p.R280H, p.R399Q (human)		 RGD PMID:16435384 PMID:16723154 RGD:11252160 RGD:11340204 NCBI chr19:42,356,039...42,427,754
Ensembl chr19:50,951,674...50,968,430 		JBrowse link
G ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit no_association ISO DNA:haplotype
DNA:missense mutations: :p.D312N, p.K751Q (human)		 RGD PMID:19101034 PMID:21987080 RGD:11252192 RGD:11340201 NCBI chr19:42,298,927...42,319,816
Ensembl chr19:50,897,004...50,915,819 		JBrowse link
G ERG ETS transcription factor ERG ISO ClinVar Annotator: match by term: Acute lymphoid leukemia ClinVar PMID:27993330 NCBI chr21:24,737,829...25,016,378
Ensembl chr21:38,087,339...38,281,403 		JBrowse link
G ETV6 ETS variant transcription factor 6 ISO ClinVar Annotator: match by term: Acute lymphoid leukemia ClinVar PMID:26102509 NCBI chr12:11,675,955...11,920,913
Ensembl chr12:11,844,939...12,179,537 		JBrowse link
G EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit ISO OMIM:247640 | OMIM:613065 | OMIM:613067 | OMIM:615545 MouseDO NCBI chr 7:140,536,962...140,613,104
Ensembl chr 7:153,017,590...153,059,726 		JBrowse link
G F3 coagulation factor III, tissue factor ISO RGD PMID:8429686 RGD:11340211 NCBI chr 1:97,190,381...97,203,076
Ensembl chr 1:95,918,502...95,931,050 		JBrowse link
G FAS Fas cell surface death receptor disease_progression ISO protein:increased expression:CD34+ bone marrow cell RGD PMID:9711907 PMID:10500800 RGD:11049148 RGD:11049157 NCBI chr10:85,707,457...85,741,539
Ensembl chr10:89,217,949...89,243,612 		JBrowse link
G FGA fibrinogen alpha chain ISO protein:increased expression:serum (human) RGD PMID:25317080 RGD:11040558 NCBI chr 4:146,949,680...146,957,291 JBrowse link
G FLT3 fms related receptor tyrosine kinase 3 ISO ClinVar Annotator: match by term: Acute lymphoid leukemia ClinVar
OMIM		 PMID:11290608 PMID:11442493 PMID:14604974 PMID:14670924 PMID:15256420 More... NCBI chr13:9,283,747...9,381,553
Ensembl chr13:27,627,178...27,723,940 		JBrowse link
G FPGS folylpolyglutamate synthase ISO CTD Direct Evidence: marker/mechanism CTD PMID:25013492 NCBI chr 9:98,921,986...98,933,542
Ensembl chr 9:127,593,592...127,604,200 		JBrowse link
G GATA3 GATA binding protein 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:35115686 NCBI chr10:8,075,951...8,105,573
Ensembl chr10:8,064,207...8,086,272 		JBrowse link
G GFI1B growth factor independent 1B transcriptional repressor ISO mRNA:increased expression:blood: RGD PMID:19360458 RGD:11040460 NCBI chr 9:104,061,236...104,113,208
Ensembl chr 9:132,692,343...132,742,326 		JBrowse link
G GNB1 G protein subunit beta 1 ISO ClinVar Annotator: match by term: Acute lymphoblastic leukemia | ClinVar Annotator: match by term: Acute lymphoid leukemia | ClinVar Annotator: match by term: Lymphoblastic leukemia OMIM
ClinVar		 PMID:25485910 PMID:25741868 PMID:27108799 PMID:28492532 PMID:32134617 More... NCBI chr 1:490,415...596,826
Ensembl chr 1:1,647,340...1,701,614 		JBrowse link
G GPI glucose-6-phosphate isomerase ISO RGD PMID:6589021 RGD:11051848 NCBI chr19:31,301,469...31,355,362
Ensembl chr19:40,024,584...40,080,598 		JBrowse link
G GPX1 glutathione peroxidase 1 treatment ISO RGD PMID:17317918 PMID:24698347 RGD:11352774 RGD:11352812 NCBI chr 3:49,280,038...49,281,455
Ensembl chr 3:50,360,947...50,361,826 		JBrowse link
G GSR glutathione-disulfide reductase ISO RGD PMID:24191316 RGD:11059506 NCBI chr 8:29,990,543...30,040,157
Ensembl chr 8:27,180,300...27,229,557 		JBrowse link
G GSTM1 glutathione S-transferase mu 1 disease_progression
no_association
susceptibility		 ISO RGD PMID:10666194 PMID:12827651 PMID:14607752 PMID:15738600 RGD:10450829 RGD:10755321 RGD:10755409 RGD:10755410 Ensembl chr 1:127,979,238...128,010,411 JBrowse link
G GSTP1 glutathione S-transferase pi 1 disease_progression
no_association
susceptibility		 ISO DNA:haplotype:cds:
DNA:polymorphism: :1578 a>G(human)
DNA:transition mutation:exon:		 RGD PMID:10666194 PMID:15738600 PMID:23979883 RGD:10450829 RGD:10755321 RGD:10755417 NCBI chr11:62,942,756...62,945,701
Ensembl chr11:66,253,421...66,256,472 		JBrowse link
G H1-2 H1.2 linker histone, cluster member susceptibility ISO DNA:SNP, haplotype:enhancer: (rs807212) (human) RGD PMID:19806355 RGD:10755490 NCBI chr 6:25,891,079...25,891,859
Ensembl chr 6:26,549,016...26,549,657 		JBrowse link
G HCK HCK proto-oncogene, Src family tyrosine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:17344919 NCBI chr20:28,346,244...28,395,370
Ensembl chr20:29,474,737...29,523,399 		JBrowse link
G HDAC1 histone deacetylase 1 disease_progression ISO mRNA:increased expression:bone marrow,blood: RGD PMID:23948281 RGD:9681454 NCBI chr 1:31,578,373...31,619,970
Ensembl chr 1:32,585,791...32,626,410 		JBrowse link
G HDAC2 histone deacetylase 2 disease_progression ISO mRNA:increased expression:bone marrow,blood: RGD PMID:23948281 RGD:9681454 NCBI chr 6:111,731,139...111,761,826
Ensembl chr 6:115,802,367...115,833,004 		JBrowse link
G HDAC4 histone deacetylase 4 treatment ISO RGD PMID:23948281 RGD:9681454 NCBI chr2B:126,287,745...126,649,815
Ensembl chr2B:245,123,061...245,427,054 		JBrowse link
G HFE homeostatic iron regulator no_association ISO DNA:missense mutation:cds:p.C282Y (human)
DNA:missense mutation: :p.H63D (human)
DNA:missense mutation:cds:p.H63D (human)		 RGD PMID:10627122 PMID:17107905 RGD:10755557 RGD:10755558 NCBI chr 6:25,921,663...25,930,852
Ensembl chr 6:26,580,358...26,588,591 		JBrowse link
G HK1 hexokinase 1 ISO protein:decreased activity:platelet RGD PMID:21921332 RGD:11353881 NCBI chr10:65,786,940...65,870,204
Ensembl chr10:68,289,288...68,401,045 		JBrowse link
G HLF HLF transcription factor, PAR bZIP family member ISO CTD Direct Evidence: marker/mechanism CTD PMID:26214592 NCBI chr17:49,353,790...49,413,676
Ensembl chr17:54,218,399...54,278,044 		JBrowse link
G HOXD4 homeobox D4 ISO ClinVar Annotator: match by term: Leukemia, acute lymphoblastic, susceptibility to ClinVar PMID:15776434 NCBI chr2B:63,429,084...63,432,972
Ensembl chr2B:181,140,175...181,141,484 		JBrowse link
G IDH1 isocitrate dehydrogenase (NADP(+)) 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22674224 NCBI chr2B:95,475,320...95,494,286
Ensembl chr2B:213,599,036...213,617,175 		JBrowse link
G IFNG interferon gamma susceptibility ISO DNA:SNP: :rs2069727(human) RGD PMID:21067287 RGD:10755691 NCBI chr12:65,663,764...65,668,732
Ensembl chr12:68,448,861...68,453,829 		JBrowse link
G IKZF1 IKAROS family zinc finger 1 ISO 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 ClinVar PMID:25741868 PMID:27993330 PMID:28492532 NCBI chr 7:50,946,817...51,047,168
Ensembl chr 7:51,191,685...51,291,245 		JBrowse link
G IKZF2 IKAROS family zinc finger 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23334668 NCBI chr2B:100,255,430...100,407,395
Ensembl chr2B:218,737,506...218,882,087 		JBrowse link
G IKZF3 IKAROS family zinc finger 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23334668 NCBI chr17:17,459,438...17,498,452
Ensembl chr17:17,643,750...17,741,479 		JBrowse link
G IL10 interleukin 10 treatment ISO protein:decreased expression:blood RGD PMID:15860861 PMID:21653647 RGD:11049158 RGD:11049169 NCBI chr 1:182,369,234...182,374,207
Ensembl chr 1:186,648,289...186,653,371 		JBrowse link
G IRF4 interferon regulatory factor 4 ISO DNA:SNP:intron:rs12203592 (human) RGD PMID:19897031 RGD:11526162 NCBI chr 6:206,282...226,487
Ensembl chr 6:342,718...356,654 		JBrowse link
G ITPA inosine triphosphatase no_association
treatment		 ISO DNA:SNP:intron
DNA:SNPs:exon:94C>A, 138G>A (human)		 RGD PMID:22009189 RGD:10766474 NCBI chr20:3,295,075...3,309,546
Ensembl chr20:3,056,395...3,070,924 		JBrowse link
G KDM2B lysine demethylase 2B ISO mRNA:increased expression:bone marrow (human) RGD PMID:21310926 RGD:9588255 NCBI chr12:119,027,633...119,183,779
Ensembl chr12:122,401,296...122,555,246 		JBrowse link
G KDM3B lysine demethylase 3B ISO protein:increased expression:bone marrow, mononuclear cell (human) RGD PMID:22615488 RGD:9586728 NCBI chr 5:133,732,400...133,816,988
Ensembl chr 5:139,863,922...139,947,895 		JBrowse link
G KDM6A lysine demethylase 6A severity ISO DNA:mutations:cds:multiple (human) RGD PMID:22377896 RGD:9684944 NCBI chr  X:37,313,000...37,548,630
Ensembl chr  X:45,127,382...45,362,029 		JBrowse link
G KMT2A lysine methyltransferase 2A ISO CTD Direct Evidence: marker/mechanism
OMIM:247640 | OMIM:613065 | OMIM:613067 | OMIM:615545		 CTD
MouseDO		 PMID:24736461 PMID:25730765 NCBI chr11:113,273,198...113,364,404
Ensembl chr11:117,204,820...117,290,100 		JBrowse link
G KRAS KRAS proto-oncogene, GTPase disease_progression ISO RGD PMID:17910045 PMID:25917266 RGD:11060148 RGD:11060149 NCBI chr12:61,062,689...61,108,524
Ensembl chr12:63,679,293...63,724,335 		JBrowse link
G LMO2 LIM domain only 2 ISO OMIM:247640 | OMIM:613065 MouseDO NCBI chr11:33,830,370...33,863,960 JBrowse link
G LOC100971425 somatotropin treatment ISO RGD PMID:2494952 RGD:11352727 NCBI chr17:58,010,848...58,013,421
Ensembl chr17:63,103,332...63,105,067 		JBrowse link
G LOC100972994 HLA class II histocompatibility antigen, DQ beta 1 chain ISO DNA:polymorphisms, haplotypes:cds:multiple
DNA:polymorphisms, haplotype:cds:HLA-DQB1*0501 (human)		 RGD PMID:9744491 PMID:22434102 RGD:11041749 RGD:11041762 NCBI chr 6:32,237,395...32,244,201
Ensembl chr 6:33,353,599...33,360,272 		JBrowse link
G LOC100981146 cytokine receptor like factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19838194 NCBI chr  X:933,459...957,950 JBrowse link
G LOC100986914 cytochrome b-245 light chain ISO mRNA:increased expression:peripheral blood mononuclear cell: RGD PMID:19222940 RGD:11040545 NCBI chr16:69,356,396...69,364,225
Ensembl chr16:89,016,349...89,024,719 		JBrowse link
G LOC100988273 cytochrome P450 2D6-like susceptibility ISO DNA:SNP,deletion:splice junction,exon:1934G>A(human)
DNA:polymorphisms: :		 RGD PMID:11037802 PMID:19593802 RGD:11252111 RGD:11352820 NCBI chr22:23,022,449...23,031,627 JBrowse link
G MEFV MEFV innate immunity regulator, pyrin susceptibility ISO DNA:polymorphisms:cds:p.E148Q,M680I(human) RGD PMID:22942567 RGD:11531121 NCBI chr16:2,175,858...2,191,056
Ensembl chr16:3,353,666...3,368,970 		JBrowse link
G MTHFR methylenetetrahydrofolate reductase treatment
disease_progression		 ISO DNA:missense mutation:cds:677C>T (human)
DNA:missense mutation:cds:677C>T (p.A222V) (rs1801133) (human)
CTD Direct Evidence: marker/mechanism		 RGD
CTD		 PMID:16706930 PMID:19923983 PMID:21644011 RGD:10449398 RGD:10449407 NCBI chr 1:10,548,196...10,568,174
Ensembl chr 1:11,766,334...11,785,419 		JBrowse link
G MTR 5-methyltetrahydrofolate-homocysteine methyltransferase susceptibility
disease_progression
no_association		 ISO DNA:polymorphism: :2756A>G(human)
DNA:SNP::rs10925235(human)
DNA:polymorphism: :66A>G(human)		 RGD PMID:15159311 PMID:21618417 PMID:22453148 PMID:26605150 RGD:11531136 RGD:11531137 RGD:11531140 RGD:11531141 NCBI chr 1:212,353,195...212,463,304
Ensembl chr 1:217,358,050...217,460,946 		JBrowse link
G MTRR 5-methyltetrahydrofolate-homocysteine methyltransferase reductase susceptibility ISO CTD Direct Evidence: marker/mechanism
DNA:haplotype:cds:
DNA:SNP: :rs3776455(human)		 CTD
RGD		 PMID:17136115 PMID:23940529 RGD:11531133 RGD:11531135 NCBI chr 5:8,195,868...8,228,071
Ensembl chr 5:8,017,403...8,049,322 		JBrowse link
G MYC MYC proto-oncogene, bHLH transcription factor disease_progression ISO RGD PMID:25784651 RGD:11532748 NCBI chr 8:124,387,561...124,393,551
Ensembl chr 8:127,131,512...127,136,863 		JBrowse link
G NAT2 N-acetyltransferase 2 susceptibility
no_association		 ISO DNA:polymorphisms: :
DNA:polymorphisms,haplotype: :
CTD Direct Evidence: marker/mechanism		 RGD
CTD		 PMID:21888617 PMID:22200898 PMID:22215203 PMID:25804798 RGD:11353805 RGD:11532767 RGD:11532769 NCBI chr 8:17,606,445...17,623,397
Ensembl chr 8:14,575,455...14,576,327 		JBrowse link
G NBN nibrin ISO ClinVar Annotator: match by term: Acute lymphoblastic leukemia | ClinVar Annotator: match by term: Acute lymphocytic leukemia | ClinVar Annotator: match by term: Acute lymphoid leukemia | ClinVar Annotator: match by term: Lymphoblastic leukemia OMIM
ClinVar		 PMID:9590180 PMID:11325820 PMID:12353271 PMID:14559852 PMID:15338273 More... NCBI chr 8:86,622,797...86,674,202
Ensembl chr 8:88,575,198...88,626,307 		JBrowse link
G NOS3 nitric oxide synthase 3 disease_progression
susceptibility		 ISO DNA:polymorphism, haplotype:cds,intron:P.E298D,-786T>C(human)
DNA:SNP: :rs3918186(human)		 RGD PMID:20510681 PMID:23922896 RGD:11533639 RGD:11533646 NCBI chr 7:142,577,334...142,600,702
Ensembl chr 7:154,730,009...154,755,233 		JBrowse link
G NOTCH3 notch receptor 3 ISO OMIM:247640 | OMIM:613065 MouseDO NCBI chr19:14,692,571...14,733,758
Ensembl chr19:15,678,674...15,715,080 		JBrowse link
G NQO1 NAD(P)H quinone dehydrogenase 1 ISO DNA:mutation: :609C>T (human)
CTD Direct Evidence: marker/mechanism
DNA:missense mutations: :p.R139W (465C>T), p.P187S (609C>T) (human)		 RGD
CTD		 PMID:11774269 PMID:17332311 PMID:18444911 RGD:10769347 RGD:10769359 NCBI chr16:50,090,696...50,106,495
Ensembl chr16:69,470,288...69,489,731 		JBrowse link
G NRAS NRAS proto-oncogene, GTPase disease_progression ISO DNA:missense mutation:cds: RGD PMID:25204082 RGD:11535045 NCBI chr 1:87,837,146...87,850,013
Ensembl chr 1:122,890,505...122,903,585 		JBrowse link
G NSD2 nuclear receptor binding SET domain protein 2 ISO CTD Direct Evidence: therapeutic CTD PMID:24076604 NCBI chr 4:2,009,276...2,119,182
Ensembl chr 4:1,945,307...2,027,425 		JBrowse link
G NT5C2 5'-nucleotidase, cytosolic II ISO CTD Direct Evidence: marker/mechanism CTD PMID:23377183 NCBI chr10:99,687,366...99,790,744
Ensembl chr10:103,148,578...103,251,513 		JBrowse link
G NUP214 nucleoporin 214 susceptibility ISO CTD Direct Evidence: marker/mechanism OMIM
CTD		 NCBI chr 9:102,246,575...102,355,291
Ensembl chr 9:130,893,110...131,001,305 		JBrowse link
G P2RY8 P2Y receptor family member 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19838194 Ensembl chr  X:1,599,411...1,600,490 JBrowse link
G PAG1 phosphoprotein membrane anchor with glycosphingolipid microdomains 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23334668 NCBI chr 8:77,492,087...77,635,854
Ensembl chr 8:79,123,503...79,218,100 		JBrowse link
G PAX5 paired box 5 susceptibility ISO ClinVar Annotator: match by term: Acute lymphoid leukemia | ClinVar Annotator: match by term: Leukemia, acute lymphoblastic, susceptibility to, 3 OMIM
ClinVar		 PMID:24013638 PMID:24728327 PMID:25741868 PMID:27993330 PMID:28492532 More... NCBI chr 9:36,677,369...36,876,678
Ensembl chr 9:37,474,267...37,673,684 		JBrowse link
G PON1 paraoxonase 1 susceptibility ISO DNA:missense mutations:cds:p.L55M (rs854560), p.Q192R (rs662) (human) RGD PMID:22976839 RGD:11552580 NCBI chr 7:87,253,476...87,279,650
Ensembl chr 7:100,841,286...100,867,493 		JBrowse link
G PRDM14 PR/SET domain 14 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19043588 NCBI chr 8:66,578,674...66,599,360
Ensembl chr 8:68,240,741...68,260,263 		JBrowse link
G PTEN phosphatase and tensin homolog ISO OMIM:247640 | OMIM:613065 | OMIM:613067 | OMIM:615545 MouseDO NCBI chr10:84,587,841...84,689,043
Ensembl chr10:88,093,539...88,194,605 		JBrowse link
G RB1 RB transcriptional corepressor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23334668 NCBI chr13:29,453,872...29,624,665
Ensembl chr13:48,155,795...48,324,575 		JBrowse link
G SLC19A1 solute carrier family 19 member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17255265 NCBI chr21:31,836,774...31,883,829
Ensembl chr21:45,090,595...45,134,752 		JBrowse link
G SNRPE small nuclear ribonucleoprotein polypeptide E severity ISO mRNA:decreased expression:bone marrow, blood, mononuclear cell (human) RGD PMID:23915977 RGD:10768836 NCBI chr 1:179,466,263...179,474,779
Ensembl chr 1:183,755,392...183,764,937 		JBrowse link
G TAL1 TAL bHLH transcription factor 1, erythroid differentiation factor ISO OMIM NCBI chr 1:46,524,484...46,540,595
Ensembl chr 1:48,042,594...48,048,622 		JBrowse link
G TAL2 TAL bHLH transcription factor 2 ISO OMIM
G TCF3 transcription factor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26214592 Ensembl chr19:1,582,297...1,622,025 JBrowse link
G TCN2 transcobalamin 2 ISO protein:altered activity:plasma: RGD PMID:8754152 RGD:11059889 NCBI chr22:11,635,107...11,655,137
Ensembl chr22:29,435,517...29,455,494 		JBrowse link
G TERT telomerase reverse transcriptase ISO DNA:SNPs:promoter, introns:g.1296486C>T, g.12866516A>C, g.1279790G>A (rs2735940, rs2736100, rs10069690) (human) RGD PMID:15621763 PMID:23066086 RGD:11038654 RGD:11038667 Ensembl chr 5:1,300,960...1,338,872 JBrowse link
G TM9SF2 transmembrane 9 superfamily member 2 ISO mRNA:increased expression:bone marrow, mononuclear cells (human) RGD PMID:12730115 RGD:2317244 NCBI chr13:80,669,277...80,731,340
Ensembl chr13:99,807,555...99,869,456 		JBrowse link
G TP53 tumor protein p53 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23334668 NCBI chr17:7,699,449...7,717,812
Ensembl chr17:7,684,922...7,706,120 		JBrowse link
G TPMT thiopurine S-methyltransferase no_association
treatment		 ISO DNA:SNPs:introns:12356C>T, 16638C>T, 26354G>T (rs4449636, rs2518463, rs2842949) (human)
DNA:SNPs:multiple
DNA:SNPs: :multiple
DNA:SNPs:exon:374C>T, 719A>G (rs2842934, rs1142345) (human)		 RGD PMID:17164697 PMID:22009189 PMID:24499706 RGD:10766474 RGD:11038720 RGD:11038723 NCBI chr 6:17,977,544...18,002,839
Ensembl chr 6:18,330,000...18,355,157 		JBrowse link
G TTC12 tetratricopeptide repeat domain 12 ISO DNA:hypermethylation:5'end:CpG dinucleotide RGD PMID:17657212 RGD:405866376 NCBI chr11:108,194,610...108,253,161
Ensembl chr11:112,037,620...112,106,537 		JBrowse link
G TYMS thymidylate synthetase treatment ISO DNA:repeats: : rs347430033(human) RGD PMID:25007187 RGD:11080979 NCBI chr18:13,653,085...13,668,478
Ensembl chr18:17,295,182...17,310,320 		JBrowse link
G XRCC1 X-ray repair cross complementing 1 susceptibility
no_association		 ISO DNA:missense mutation, haplotype: :p.R399Q (human)
CTD Direct Evidence: marker/mechanism
DNA:missense mutation: :p.R194W (human)
DNA:missense mutation: :p.R399Q (human)		 RGD
CTD		 PMID:19101034 PMID:21983886 RGD:11252110 RGD:11252192 NCBI chr19:40,485,052...40,522,188
Ensembl chr19:49,094,014...49,125,520 		JBrowse link
Acute Lymphoblastic Leukemia, with Lymphomatous Features term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABL1 ABL proto-oncogene 1, non-receptor tyrosine kinase ISO ClinVar Annotator: match by term: Lymphoblastic leukemia, acute, with lymphomatous features ClinVar PMID:10988075 PMID:11423618 PMID:11853795 PMID:11861307 PMID:11964322 More... NCBI chr 9:101,834,189...102,005,811
Ensembl chr 9:130,484,333...130,652,941 		JBrowse link
G CYP2B6 cytochrome P450 family 2 subfamily B member 6 susceptibility ISO DNA:polymorphism:G15631T RGD PMID:19144407 RGD:6480472 NCBI chr19:38,003,083...38,028,980
Ensembl chr19:46,509,370...46,534,672 		JBrowse link
G FGFR1 fibroblast growth factor receptor 1 ISO ClinVar Annotator: match by term: Lymphoblastic leukemia, acute, with lymphomatous features ClinVar PMID:25705862 PMID:26619011 PMID:26942290 PMID:33448156 NCBI chr 8:37,713,133...37,773,098
Ensembl chr 8:34,890,147...34,948,904 		JBrowse link
G IL7R interleukin 7 receptor ISO ClinVar Annotator: match by term: Lymphoblastic leukemia, acute, with lymphomatous features ClinVar PMID:22897847 PMID:22955920 NCBI chr 5:74,489,188...74,516,330
Ensembl chr 5:79,769,859...79,792,612 		JBrowse link
G INSL6 insulin like 6 ISO ClinVar Annotator: match by term: Lymphoblastic leukemia, acute, with lymphomatous features ClinVar PMID:18805579 PMID:19470474 PMID:20585391 PMID:22368270 PMID:22955920 NCBI chr 9:5,007,158...5,029,056
Ensembl chr 9:5,192,023...5,213,827 		JBrowse link
G JAK1 Janus kinase 1 ISO ClinVar Annotator: match by term: Lymphoblastic leukemia, acute, with lymphomatous features ClinVar PMID:16239216 PMID:19139102 PMID:19470474 PMID:19838194 PMID:20167706 More... NCBI chr 1:64,083,562...64,315,909
Ensembl chr 1:65,973,904...66,024,991 		JBrowse link
G JAK2 Janus kinase 2 ISO ClinVar Annotator: match by term: Lymphoblastic leukemia, acute, with lymphomatous features ClinVar PMID:18805579 PMID:19470474 PMID:20585391 PMID:22368270 PMID:22955920 NCBI chr 9:4,820,303...4,971,867
Ensembl chr 9:5,006,271...5,156,626 		JBrowse link
G JAK3 Janus kinase 3 ISO ClinVar Annotator: match by term: LYMPHOMATOUS ALL ClinVar PMID:10982185 PMID:16843266 PMID:18270328 PMID:20132407 PMID:20372971 More... NCBI chr19:17,299,129...17,330,700
Ensembl chr19:18,283,560...18,300,964 		JBrowse link
G LOC100981146 cytokine receptor like factor 2 ISO ClinVar Annotator: match by term: Lymphoblastic leukemia, acute, with lymphomatous features ClinVar PMID:19907440 PMID:19965641 PMID:20018760 PMID:22368272 NCBI chr  X:933,459...957,950 JBrowse link
adenosine deaminase deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACOT8 acyl-CoA thioesterase 8 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chr20:42,180,734...42,196,466
Ensembl chr20:43,268,264...43,283,989 		JBrowse link
G ADA adenosine deaminase ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
ClinVar Annotator: match by term: Bubble boy disease | ClinVar Annotator: match by term: SCID due to ADA deficiency, delayed onset | ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency		 OMIM
ClinVar		 PMID:46025 PMID:498598 PMID:980079 PMID:1284479 PMID:1346349 More... NCBI chr20:40,950,238...40,982,481
Ensembl chr20:42,044,613...42,076,868 		JBrowse link
G CCN5 cellular communication network factor 5 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chr20:41,045,205...41,058,137
Ensembl chr20:42,139,551...42,152,563 		JBrowse link
G CD247 CD247 molecule ISO ClinVar Annotator: match by term: Bubble boy disease ClinVar PMID:17170122 PMID:25741868 PMID:26542031 PMID:27872624 PMID:28492532 More... NCBI chr 1:142,863,860...142,951,851
Ensembl chr 1:146,648,733...146,736,071 		JBrowse link
G CD40 CD40 molecule ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chr20:42,455,711...42,467,139
Ensembl chr20:43,541,619...43,552,994 		JBrowse link
G CDH22 cadherin 22 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chr20:42,511,264...42,645,662
Ensembl chr20:43,597,548...43,674,070 		JBrowse link
G CTSA cathepsin A ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chr20:42,229,064...42,237,627
Ensembl chr20:43,316,530...43,324,671 		JBrowse link
G DBNDD2 dysbindin domain containing 2 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chr20:41,738,913...41,743,520
Ensembl chr20:42,829,178...42,833,333 		JBrowse link
G DNTTIP1 deoxynucleotidyltransferase terminal interacting protein 1 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chr20:42,131,601...42,151,047
Ensembl chr20:43,219,079...43,238,243 		JBrowse link
G ELMO2 engulfment and cell motility 2 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chr20:42,702,930...42,770,211
Ensembl chr20:43,788,090...43,828,693 		JBrowse link
G EPPIN epididymal peptidase inhibitor ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chr20:41,877,561...41,884,375
Ensembl chr20:42,967,885...42,973,479 		JBrowse link
G FITM2 fat storage inducing transmembrane protein 2 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chr20:40,633,898...40,642,300
Ensembl chr20:41,730,346...41,735,389 		JBrowse link
G GDAP1L1 ganglioside induced differentiation associated protein 1 like 1 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chr20:40,578,381...40,611,354
Ensembl chr20:41,671,662...41,704,495 		JBrowse link
G GTSF1L gametocyte specific factor 1 like ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chr20:40,062,989...40,064,097 JBrowse link
G HNF4A hepatocyte nuclear factor 4 alpha ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chr20:40,684,450...40,763,824
Ensembl chr20:41,779,034...41,856,536 		JBrowse link
G IFT52 intraflagellar transport 52 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chr20:39,929,523...39,986,072
Ensembl chr20:41,023,517...41,080,500 		JBrowse link
G JAK3 Janus kinase 3 ISO ClinVar Annotator: match by term: Bubble boy disease | ClinVar Annotator: match by term: Severe combined immunodeficiency due to adenosine deaminase deficiency ClinVar PMID:7481768 PMID:9354668 PMID:9753072 PMID:10900158 PMID:10982185 More... NCBI chr19:17,299,129...17,330,700
Ensembl chr19:18,283,560...18,300,964 		JBrowse link
G JPH2 junctophilin 2 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chr20:40,439,975...40,517,438 JBrowse link
G KCNK15 potassium two pore domain channel subfamily K member 15 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chr20:41,075,999...41,085,522
Ensembl chr20:42,170,536...42,176,929 		JBrowse link
G KCNS1 potassium voltage-gated channel modifier subfamily S member 1 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chr20:41,422,847...41,431,752
Ensembl chr20:42,515,401...42,524,192 		JBrowse link
G LOC100978529 myosin-7 ISO ClinVar Annotator: match by term: Bubble boy disease ClinVar PMID:7581410 PMID:10521296 PMID:11186938 PMID:11447480 PMID:15358028 More... NCBI chr14:4,231,344...4,254,295
Ensembl chr14:22,325,812...22,348,763 		JBrowse link
G LOC100979261 T-cell surface glycoprotein CD3 gamma chain ISO ClinVar Annotator: match by term: Bubble boy disease ClinVar PMID:1635567 PMID:17277165 PMID:24910257 PMID:28492532 PMID:31921117 NCBI chr11:113,179,270...113,190,104
Ensembl chr11:117,111,132...117,120,566 		JBrowse link
G MATN4 matrilin 4 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chr20:41,624,565...41,642,914
Ensembl chr20:42,714,786...42,733,162 		JBrowse link
G MMP9 matrix metallopeptidase 9 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chr20:42,346,305...42,354,018
Ensembl chr20:43,432,389...43,440,129 		JBrowse link
G MYBL2 MYB proto-oncogene like 2 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chr20:40,005,482...40,053,324
Ensembl chr20:41,099,368...41,146,423 		JBrowse link
G NCOA5 nuclear receptor coactivator 5 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chr20:42,398,240...42,427,247
Ensembl chr20:43,485,294...43,493,521 		JBrowse link
G NEURL2 neuralized E3 ubiquitin protein ligase 2 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chr20:42,227,450...42,230,096
Ensembl chr20:43,314,207...43,316,944 		JBrowse link
G OCSTAMP osteoclast stimulatory transmembrane protein ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chr20:42,873,552...42,883,785
Ensembl chr20:43,958,736...43,968,110 		JBrowse link
G OSER1 oxidative stress responsive serine rich 1 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chr20:40,526,388...40,579,068
Ensembl chr20:41,619,707...41,633,867 		JBrowse link
G PABPC1L poly(A) binding protein cytoplasmic 1 like ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chr20:41,240,430...41,270,036
Ensembl chr20:42,333,593...42,375,850 		JBrowse link
G PCIF1 phosphorylated CTD interacting factor 1 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chr20:42,273,443...42,286,885
Ensembl chr20:43,360,219...43,374,593 		JBrowse link
G PI3 peptidase inhibitor 3 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chr20:41,504,467...41,506,928
Ensembl chr20:42,595,572...42,598,033 		JBrowse link
G PIGT phosphatidylinositol glycan anchor biosynthesis class T ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chr20:41,749,034...41,759,131
Ensembl chr20:42,838,789...42,870,907 		JBrowse link
G PKIG cAMP-dependent protein kinase inhibitor gamma ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chr20:40,861,694...40,949,756
Ensembl chr20:42,039,676...42,049,064 		JBrowse link
G PLTP phospholipid transfer protein ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chr20:42,237,434...42,251,189
Ensembl chr20:43,324,609...43,337,999 		JBrowse link
G R3HDML R3H domain containing like ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chr20:40,664,361...40,680,214
Ensembl chr20:41,760,147...41,773,791 		JBrowse link
G RAG1 recombination activating 1 ISO 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		 ClinVar PMID:8810255 PMID:9630231 PMID:10635319 PMID:10701853 PMID:10891452 More... NCBI chr11:36,483,697...36,546,242
Ensembl chr11:36,412,420...36,422,904 		JBrowse link
G RBPJL recombination signal binding protein for immunoglobulin kappa J region like ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chr20:41,637,933...41,650,419
Ensembl chr20:42,729,435...42,738,252 		JBrowse link
G RIMS4 regulating synaptic membrane exocytosis 4 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chr20:41,082,200...41,141,119
Ensembl chr20:42,180,764...42,234,847 		JBrowse link
G SDC4 syndecan 4 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chr20:41,656,406...41,679,549
Ensembl chr20:42,746,281...42,769,737 		JBrowse link
G SEMG1 semenogelin 1 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chr20:41,537,773...41,539,964
Ensembl chr20:42,628,856...42,631,405 		JBrowse link
G SEMG2 semenogelin 2 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chr20:41,552,614...41,554,605
Ensembl chr20:42,642,620...42,644,611 		JBrowse link
G SERINC3 serine incorporator 3 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chr20:40,827,299...40,852,028
Ensembl chr20:41,921,639...41,946,287 		JBrowse link
G SLC12A5 solute carrier family 12 member 5 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chr20:42,359,005...42,397,412
Ensembl chr20:43,445,182...43,483,132 		JBrowse link
G SLC13A3 solute carrier family 13 member 3 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chr20:42,890,251...43,018,635
Ensembl chr20:43,977,568...44,068,886 		JBrowse link
G SLC2A10 solute carrier family 2 member 10 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chr20:43,043,801...43,068,304
Ensembl chr20:44,128,837...44,153,148 		JBrowse link
G SLC35C2 solute carrier family 35 member C2 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chr20:42,686,735...42,701,321
Ensembl chr20:43,772,681...43,780,671 		JBrowse link
G SLPI secretory leukocyte peptidase inhibitor ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chr20:41,583,429...41,585,773
Ensembl chr20:42,673,417...42,675,773 		JBrowse link
G SNX21 sorting nexin family member 21 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chr20:42,173,092...42,181,890
Ensembl chr20:43,260,483...43,269,406 		JBrowse link
G SPATA25 spermatogenesis associated 25 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chr20:42,224,930...42,227,521
Ensembl chr20:43,312,075...43,313,639 		JBrowse link
G SPINT3 serine peptidase inhibitor, Kunitz type 3 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chr20:41,845,959...41,849,511 JBrowse link
G SPINT4 serine peptidase inhibitor, Kunitz type 4 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chr20:42,061,390...42,063,084 JBrowse link
G STK4 serine/threonine kinase 4 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chr20:41,297,157...41,410,487
Ensembl chr20:42,389,615...42,503,014 		JBrowse link
G SYS1 SYS1 golgi trafficking protein ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chr20:41,694,152...41,698,874
Ensembl chr20:42,784,190...42,795,119 		JBrowse link
G TNNC2 troponin C2, fast skeletal type ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chr20:42,162,502...42,172,829
Ensembl chr20:43,249,725...43,254,134 		JBrowse link
G TOMM34 translocase of outer mitochondrial membrane 34 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chr20:41,272,876...41,291,097
Ensembl chr20:42,365,325...42,383,639 		JBrowse link
G TOX2 TOX high mobility group box family member 2 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chr20:40,242,893...40,400,054
Ensembl chr20:41,336,612...41,493,142 		JBrowse link
G TP53RK TP53 regulating kinase ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chr20:43,019,398...43,022,445
Ensembl chr20:44,101,668...44,107,497 		JBrowse link
G TP53TG5 TP53 target 5 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chr20:41,704,086...41,740,797
Ensembl chr20:42,794,705...42,799,532 		JBrowse link
G TTPAL alpha tocopherol transfer protein like ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chr20:40,805,683...40,824,455
Ensembl chr20:41,900,178...41,913,741 		JBrowse link
G UBE2C ubiquitin conjugating enzyme E2 C ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chr20:42,152,219...42,156,246
Ensembl chr20:43,239,382...43,243,464 		JBrowse link
G WFDC10A WAP four-disulfide core domain 10A ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chr20:41,966,314...41,967,804 JBrowse link
G WFDC10B WAP four-disulfide core domain 10B ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chr20:42,017,712...42,019,309
Ensembl chr20:43,106,633...43,107,784 		JBrowse link
G WFDC11 WAP four-disulfide core domain 11 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chr20:41,983,313...42,003,292
Ensembl chr20:43,072,081...43,088,989 		JBrowse link
G WFDC12 WAP four-disulfide core domain 12 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chr20:41,453,282...41,454,943
Ensembl chr20:42,546,058...42,547,092 		JBrowse link
G WFDC13 WAP four-disulfide core domain 13 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chr20:42,040,746...42,047,823
Ensembl chr20:43,129,351...43,136,142 		JBrowse link
G WFDC2 WAP four-disulfide core domain 2 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chr20:41,803,624...41,815,442
Ensembl chr20:42,893,345...42,905,122 		JBrowse link
G WFDC3 WAP four-disulfide core domain 3 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chr20:42,113,749...42,131,413
Ensembl chr20:43,200,929...43,218,891 		JBrowse link
G WFDC5 WAP four-disulfide core domain 5 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chr20:41,440,007...41,446,864 JBrowse link
G WFDC6 WAP four-disulfide core domain 6 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chr20:41,871,121...41,876,428
Ensembl chr20:42,960,243...42,965,547 		JBrowse link
G WFDC8 WAP four-disulfide core domain 8 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chr20:41,888,066...41,915,619
Ensembl chr20:42,978,055...42,990,413 		JBrowse link
G WFDC9 WAP four-disulfide core domain 9 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chr20:41,944,428...41,967,892
Ensembl chr20:43,033,278...43,056,657 		JBrowse link
G YWHAB tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein beta ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chr20:41,216,071...41,238,893
Ensembl chr20:42,309,155...42,331,695 		JBrowse link
G ZNF334 zinc finger protein 334 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chr20:42,786,347...42,848,055
Ensembl chr20:43,919,463...43,933,010 		JBrowse link
G ZNF335 zinc finger protein 335 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chr20:42,287,518...42,312,169
Ensembl chr20:43,374,591...43,397,724 		JBrowse link
G ZSWIM1 zinc finger SWIM-type containing 1 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chr20:42,215,506...42,224,076
Ensembl chr20:43,308,193...43,309,650 		JBrowse link
G ZSWIM3 zinc finger SWIM-type containing 3 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chr20:42,196,627...42,217,927
Ensembl chr20:43,284,161...43,304,703 		JBrowse link
adult T-cell leukemia/lymphoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BIRC5 baculoviral IAP repeat containing 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16497974 NCBI chr17:72,292,332...72,303,493
Ensembl chr17:77,842,724...77,854,159 		JBrowse link
G BMP6 bone morphogenetic protein 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18688853 NCBI chr 6:7,564,164...7,720,341
Ensembl chr 6:7,848,249...8,000,649 		JBrowse link
G CARD11 caspase recruitment domain family member 11 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26437031 NCBI chr 7:3,166,788...3,304,729
Ensembl chr 7:3,258,736...3,332,999 		JBrowse link
G CCR4 C-C motif chemokine receptor 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26437031 NCBI chr 3:32,882,419...32,887,442
Ensembl chr 3:33,188,482...33,189,564 		JBrowse link
G CCR7 C-C motif chemokine receptor 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26437031 NCBI chr17:16,720,236...16,731,955
Ensembl chr17:16,949,119...16,956,370 		JBrowse link
G CD163 CD163 molecule disease_progression ISO protein:increased expression:lymph node tumor (human) RGD PMID:23557330 RGD:42721976 NCBI chr12:7,616,714...7,649,768
Ensembl chr12:7,775,343...7,810,023 		JBrowse link
G CD274 CD274 molecule disease_progression ISO RGD PMID:27418641 RGD:41412177 NCBI chr 9:5,269,270...5,289,629
Ensembl chr 9:5,454,391...5,474,402 		JBrowse link
G CD28 CD28 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:26437031 NCBI chr2B:90,938,795...90,971,438
Ensembl chr2B:209,076,388...209,111,213 		JBrowse link
G CD68 CD68 molecule disease_progression ISO protein:increased expression:lymph node tumor (human) RGD PMID:23557330 RGD:42721976 NCBI chr17:7,610,725...7,613,696
Ensembl chr17:7,596,947...7,599,981 		JBrowse link
G CD80 CD80 molecule ISO RGD PMID:10590132 RGD:6902938 NCBI chr 3:116,646,590...116,683,725
Ensembl chr 3:123,559,559...123,594,870 		JBrowse link
G CD86 CD86 molecule ISO RGD PMID:10590132 RGD:6902938 NCBI chr 3:119,151,884...119,217,641
Ensembl chr 3:126,059,008...126,124,339 		JBrowse link
G CSNK1A1 casein kinase 1 alpha 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26437031 NCBI chr 5:144,919,775...144,977,105
Ensembl chr 5:150,929,420...150,985,912 		JBrowse link
G CSNK2A1 casein kinase 2 alpha 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26437031 NCBI chr20:689,494...752,092
Ensembl chr20:456,629...521,126 		JBrowse link
G CSNK2B casein kinase 2 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:26437031 NCBI chr 6:31,327,250...31,331,250 JBrowse link
G CTLA4 cytotoxic T-lymphocyte associated protein 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26437031 NCBI chr2B:91,054,917...91,106,234
Ensembl chr2B:209,239,417...209,244,498 		JBrowse link
G FAS Fas cell surface death receptor susceptibility ISO protein:increased expression:peripheral blood mononuclear cell:
DNA:polymorphism:promoter: -670 G>A(human)		 RGD PMID:7513372 PMID:17962369 RGD:11049147 RGD:11049453 NCBI chr10:85,707,457...85,741,539
Ensembl chr10:89,217,949...89,243,612 		JBrowse link
G FOXP3 forkhead box P3 disease_progression ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:23797717 PMID:23962110 RGD:38456007 NCBI chr  X:41,550,462...41,567,492
Ensembl chr  X:49,402,652...49,417,029 		JBrowse link
G FYN FYN proto-oncogene, Src family tyrosine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:26437031 NCBI chr 6:109,469,750...109,684,086
Ensembl chr 6:113,545,944...113,604,451 		JBrowse link
G GATA3 GATA binding protein 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26437031 NCBI chr10:8,075,951...8,105,573
Ensembl chr10:8,064,207...8,086,272 		JBrowse link
G GPR183 G protein-coupled receptor 183 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26437031 NCBI chr13:80,461,908...80,475,046
Ensembl chr13:99,601,220...99,602,305 		JBrowse link
G HNRNPA2B1 heterogeneous nuclear ribonucleoprotein A2/B1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26437031 NCBI chr 7:26,835,881...26,846,578
Ensembl chr 7:26,439,443...26,449,985 		JBrowse link
G ICOS inducible T cell costimulator ISO CTD Direct Evidence: marker/mechanism CTD PMID:26437031 NCBI chr2B:91,168,998...91,193,808
Ensembl chr2B:209,307,938...209,332,734 		JBrowse link
G IFNG interferon gamma treatment ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:8800741 PMID:23962110 RGD:10755707 NCBI chr12:65,663,764...65,668,732
Ensembl chr12:68,448,861...68,453,829 		JBrowse link
G IKZF2 IKAROS family zinc finger 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26437031 NCBI chr2B:100,255,430...100,407,395
Ensembl chr2B:218,737,506...218,882,087 		JBrowse link
G IL10 interleukin 10 ISO CTD Direct Evidence: marker/mechanism RGD
CTD		 PMID:8704212 PMID:23962110 RGD:11049460 NCBI chr 1:182,369,234...182,374,207
Ensembl chr 1:186,648,289...186,653,371 		JBrowse link
G IL2 interleukin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23962110 NCBI chr 4:114,637,328...114,642,586
Ensembl chr 4:125,782,563...125,787,984 		JBrowse link
G IL4 interleukin 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23962110 NCBI chr 5:128,091,342...128,099,886
Ensembl chr 5:134,253,039...134,261,581 		JBrowse link
G IL5 interleukin 5 disease_progression ISO protein:increased expression:serum RGD PMID:16425276 RGD:11354942 NCBI chr 5:127,955,377...127,961,726
Ensembl chr 5:134,119,608...134,121,675 		JBrowse link
G IL6 interleukin 6 ISO protein:increased expression:serum (human) RGD PMID:10374863 RGD:11060275 NCBI chr 7:23,415,922...23,420,767 JBrowse link
G IRF4 interferon regulatory factor 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26437031 NCBI chr 6:206,282...226,487
Ensembl chr 6:342,718...356,654 		JBrowse link
G JAK3 Janus kinase 3 ISO DNA:missense mutations: :p.L156P, p.R172Q, p.E183G (human) RGD PMID:21821710 RGD:11531131 NCBI chr19:17,299,129...17,330,700
Ensembl chr19:18,283,560...18,300,964 		JBrowse link
G LOC100972354 interferon alpha-2 ISO CTD Direct Evidence: therapeutic CTD PMID:12560223 PMID:17077332 NCBI chr 9:21,245,017...21,246,210
Ensembl chr 9:21,863,062...21,863,736 		JBrowse link
G MYB MYB proto-oncogene, transcription factor disease_progression ISO mRNA:splice variants:CD4+ T cell: RGD PMID:27307595 RGD:11532670 NCBI chr 6:132,952,728...132,990,560
Ensembl chr 6:137,048,812...137,086,194 		JBrowse link
G NOTCH1 notch receptor 1 ISO DNA:mutations:multiple (human) RGD PMID:16707600 RGD:1580759 NCBI chr 9:107,568,670...107,621,032
Ensembl chr 9:136,544,639...136,598,740 		JBrowse link
G NRAS NRAS proto-oncogene, GTPase disease_progression ISO RGD PMID:21586752 RGD:11535055 NCBI chr 1:87,837,146...87,850,013
Ensembl chr 1:122,890,505...122,903,585 		JBrowse link
G PLCG1 phospholipase C gamma 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26437031 NCBI chr20:37,477,077...37,515,854
Ensembl chr20:38,572,709...38,615,145 		JBrowse link
G PRKCB protein kinase C beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:26437031 NCBI chr16:13,888,936...14,268,759
Ensembl chr16:24,091,289...24,466,203 		JBrowse link
G STAT3 signal transducer and activator of transcription 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24090995 NCBI chr17:14,928,689...15,003,644
Ensembl chr17:15,152,358...15,227,067 		JBrowse link
G TAL2 TAL bHLH transcription factor 2 ISO RGD PMID:1763056 RGD:1599285
G TERF2 telomeric repeat binding factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17643074 NCBI chr16:49,729,906...49,763,002
Ensembl chr16:69,116,539...69,148,423 		JBrowse link
G TLX1 T cell leukemia homeobox 1 ISO CTD Direct Evidence: marker/mechanism RGD
CTD		 PMID:1683261 PMID:1717256 RGD:1599439 NCBI chr10:97,731,715...97,738,978
Ensembl chr10:101,207,374...101,214,625 		JBrowse link
G TNFSF8 TNF superfamily member 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9058727 NCBI chr 9:85,998,567...86,036,373
Ensembl chr 9:114,360,206...114,397,822 		JBrowse link
G TP73 tumor protein p73 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26437031 NCBI chr 1:2,323,399...2,405,295
Ensembl chr 1:3,476,064...3,529,206 		JBrowse link
G VAV1 vav guanine nucleotide exchange factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26437031 NCBI chr19:5,805,121...5,888,203
Ensembl chr19:6,726,578...6,806,112 		JBrowse link
agammaglobulinemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BLNK B cell linker susceptibility ISO CTD Direct Evidence: marker/mechanism
DNA:splice-site mutation		 CTD
RGD		 PMID:10583958 RGD:1600518 NCBI chr10:92,803,408...92,936,868
Ensembl chr10:96,316,103...96,391,067 		JBrowse link
G BTK Bruton tyrosine kinase susceptibility ISO DNA:insertions, point mutations
ClinVar Annotator: match by term: Agammaglobulinemia		 RGD
ClinVar		 PMID:8162018 PMID:10352268 RGD:1600526 NCBI chr  X:90,551,874...90,588,786
Ensembl chr  X:100,684,017...100,725,187 		JBrowse link
G CD19 CD19 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:16672701 Ensembl chr16:29,320,734...29,327,481 JBrowse link
G CD79A CD79a molecule ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr19:38,765,067...38,769,556
Ensembl chr19:47,270,377...47,274,711 		JBrowse link
G CD79B CD79b molecule ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr17:58,022,375...58,026,359
Ensembl chr17:63,116,722...63,120,335 		JBrowse link
G IGLL1 immunoglobulin lambda like polypeptide 1 ISO CTD Direct Evidence: marker/mechanism CTD
G LRRC8A leucine rich repeat containing 8 VRAC subunit A ISO CTD Direct Evidence: marker/mechanism RGD
CTD		 PMID:14660746 RGD:1599837 NCBI chr 9:100,003,969...100,039,859
Ensembl chr 9:128,670,292...128,705,466 		JBrowse link
G TCF3 transcription factor 3 ISO CTD Direct Evidence: marker/mechanism CTD Ensembl chr19:1,582,297...1,622,025 JBrowse link
agammaglobulinemia 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BTK Bruton tyrosine kinase ISO ClinVar Annotator: match by term: Autosomal recessive agammaglobulinemia 1 ClinVar PMID:7678697 PMID:7809124 PMID:7849697 PMID:7849721 PMID:7880320 More... NCBI chr  X:90,551,874...90,588,786
Ensembl chr  X:100,684,017...100,725,187 		JBrowse link
G CD79A CD79a molecule ISO ClinVar Annotator: match by term: Autosomal recessive agammaglobulinemia 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr19:38,765,067...38,769,556
Ensembl chr19:47,270,377...47,274,711 		JBrowse link
agammaglobulinemia 10 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SPI1 Spi-1 proto-oncogene ISO ClinVar Annotator: match by term: AGAMMAGLOBULINEMIA, AUTOSOMAL DOMINANT, DUE TO SPI1 DEFECT | ClinVar Annotator: match by term: Agammaglobulinemia 10, autosomal dominant OMIM
ClinVar		 PMID:25741868 PMID:33951726 NCBI chr11:47,301,245...47,326,891
Ensembl chr11:47,853,991...47,880,259 		JBrowse link
agammaglobulinemia 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C23H22orf15 chromosome 23 C22orf15 homolog ISO ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive ClinVar PMID:28492532 NCBI chr22:4,518,199...4,521,631
Ensembl chr22:22,604,096...22,606,948 		JBrowse link
G CHCHD10 coiled-coil-helix-coiled-coil-helix domain containing 10 ISO ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive ClinVar PMID:28492532 NCBI chr22:4,521,604...4,523,740 JBrowse link
G DERL3 derlin 3 ISO ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive ClinVar PMID:28492532 NCBI chr22:4,589,448...4,594,628
Ensembl chr22:22,673,908...22,678,444 		JBrowse link
G DRICH1 aspartate rich 1 ISO ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive ClinVar PMID:28492532 Ensembl chr22:22,459,821...22,482,939 JBrowse link
G IGLL1 immunoglobulin lambda like polypeptide 1 ISO ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive OMIM
ClinVar		 PMID:9419212 PMID:9536098 PMID:17576681 PMID:25502423 PMID:25741868 More...
G MIF macrophage migration inhibitory factor ISO ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive ClinVar PMID:28492532 NCBI chr22:4,646,986...4,647,831
Ensembl chr22:22,730,807...22,732,009 		JBrowse link
G MMP11 matrix metallopeptidase 11 ISO ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive ClinVar PMID:28492532 NCBI chr22:4,528,639...4,540,118
Ensembl chr22:22,615,969...22,624,567 		JBrowse link
G RGL4 ral guanine nucleotide dissociation stimulator like 4 ISO ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive ClinVar PMID:28492532 NCBI chr22:4,453,352...4,455,451 JBrowse link
G SLC2A11 solute carrier family 2 member 11 ISO ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive ClinVar PMID:28492532 NCBI chr22:4,609,422...4,638,903
Ensembl chr22:22,693,639...22,723,223 		JBrowse link
G SMARCB1 SWI/SNF related BAF chromatin remodeling complex subunit B1 ISO ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive ClinVar PMID:28492532 NCBI chr22:4,542,764...4,589,461
Ensembl chr22:22,627,982...22,673,921 		JBrowse link
G VPREB3 V-set pre-B cell surrogate light chain 3 ISO ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive ClinVar PMID:28492532 Ensembl chr22:22,594,271...22,595,988 JBrowse link
G ZNF70 zinc finger protein 70 ISO ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive ClinVar PMID:28492532 NCBI chr22:4,496,079...4,506,864
Ensembl chr22:22,585,512...22,586,852 		JBrowse link
agammaglobulinemia 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CD79A CD79a molecule ISO ClinVar Annotator: match by term: AGAMMAGLOBULINEMIA, AUTOSOMAL RECESSIVE, DUE TO CD79A DEFECT | ClinVar Annotator: match by term: Agammaglobulinemia 3, autosomal recessive OMIM
ClinVar		 PMID:9536098 PMID:10525050 PMID:11920841 PMID:16199547 PMID:17576681 More... NCBI chr19:38,765,067...38,769,556
Ensembl chr19:47,270,377...47,274,711 		JBrowse link
G RPS19 ribosomal protein S19 ISO ClinVar Annotator: match by term: Agammaglobulinemia 3, autosomal recessive ClinVar PMID:28492532 NCBI chr19:38,748,604...38,760,055
Ensembl chr19:47,254,157...47,264,953 		JBrowse link
agammaglobulinemia 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ALDH18A1 aldehyde dehydrogenase 18 family member A1 ISO ClinVar Annotator: match by term: Agammaglobulinemia 4, autosomal recessive ClinVar PMID:28492532 NCBI chr10:92,216,639...92,267,525
Ensembl chr10:95,723,099...95,774,095 		JBrowse link
G BLNK B cell linker ISO ClinVar Annotator: match by term: AGAMMAGLOBULINEMIA, AUTOSOMAL RECESSIVE, DUE TO BLNK DEFECT | ClinVar Annotator: match by term: Agammaglobulinemia 4, autosomal recessive OMIM
ClinVar		 PMID:9536098 PMID:10583958 PMID:16199547 PMID:17576681 PMID:24033266 More... NCBI chr10:92,803,408...92,936,868
Ensembl chr10:96,316,103...96,391,067 		JBrowse link
G CC2D2B coiled-coil and C2 domain containing 2B ISO ClinVar Annotator: match by term: Agammaglobulinemia 4, autosomal recessive ClinVar PMID:28492532 NCBI chr10:92,520,578...92,644,989 JBrowse link
G CCNJ cyclin J ISO ClinVar Annotator: match by term: Agammaglobulinemia 4, autosomal recessive ClinVar PMID:28492532 NCBI chr10:92,654,210...92,672,135
Ensembl chr10:96,160,593...96,178,091 		JBrowse link
G ENTPD1 ectonucleoside triphosphate diphosphohydrolase 1 ISO ClinVar Annotator: match by term: Agammaglobulinemia 4, autosomal recessive ClinVar PMID:28492532 NCBI chr10:92,365,267...92,511,852
Ensembl chr10:95,828,094...95,983,257 		JBrowse link
G TCTN3 tectonic family member 3 ISO ClinVar Annotator: match by term: Agammaglobulinemia 4, autosomal recessive ClinVar PMID:28492532 NCBI chr10:92,274,003...92,304,093
Ensembl chr10:95,780,315...95,810,271 		JBrowse link
G ZNF518A zinc finger protein 518A ISO ClinVar Annotator: match by term: Agammaglobulinemia 4, autosomal recessive ClinVar PMID:9536098 PMID:10583958 PMID:17576681 PMID:24582315 PMID:25741868 More... NCBI chr10:92,743,048...92,818,154 JBrowse link
agammaglobulinemia 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LRRC8A leucine rich repeat containing 8 VRAC subunit A ISO 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 OMIM
ClinVar		 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 9:100,003,969...100,039,859
Ensembl chr 9:128,670,292...128,705,466 		JBrowse link
agammaglobulinemia 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CD79B CD79b molecule ISO ClinVar Annotator: match by term: AGAMMAGLOBULINEMIA, AUTOSOMAL RECESSIVE, DUE TO CD79B DEFECT | ClinVar Annotator: match by term: Agammaglobulinemia 6, autosomal recessive OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:17675462 PMID:17709424 PMID:24033266 More... NCBI chr17:58,022,375...58,026,359
Ensembl chr17:63,116,722...63,120,335 		JBrowse link
agammaglobulinemia 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PIK3R1 phosphoinositide-3-kinase regulatory subunit 1 ISO ClinVar Annotator: match by term: AGAMMAGLOBULINEMIA, AUTOSOMAL RECESSIVE, DUE TO PIK3R1 DEFECT | ClinVar Annotator: match by term: Agammaglobulinemia 7, autosomal recessive OMIM
ClinVar		 PMID:18414213 PMID:22351933 PMID:24033266 PMID:25133428 PMID:25488983 More... NCBI chr 5:45,701,219...45,786,652
Ensembl chr 5:47,267,286...47,350,960 		JBrowse link
Agammaglobulinemia 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TCF3 transcription factor 3 ISO ClinVar Annotator: match by term: TCF3-related condition ClinVar PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 PMID:34618307 Ensembl chr19:1,582,297...1,622,025 JBrowse link
agammaglobulinemia 8A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TCF3 transcription factor 3 ISO ClinVar Annotator: match by term: AGAMMAGLOBULINEMIA 8A, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: Agammaglobulinemia 8, autosomal dominant OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:21693761 PMID:24216514 PMID:25741868 More... Ensembl chr19:1,582,297...1,622,025 JBrowse link
agammaglobulinemia 8B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TCF3 transcription factor 3 ISO ClinVar Annotator: match by term: AGAMMAGLOBULINEMIA, AUTOSOMAL RECESSIVE, DUE TO TCF3 DEFECT | ClinVar Annotator: match by term: Agammaglobulinemia 8b, autosomal recessive OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:28532655 PMID:30063982 PMID:34618307 Ensembl chr19:1,582,297...1,622,025 JBrowse link
agammaglobulinemia 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SLC39A7 solute carrier family 39 member 7 ISO ClinVar Annotator: match by term: Agammaglobulinemia 9, autosomal recessive OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:30718914 NCBI chr 6:32,773,016...32,776,650
Ensembl chr 6:33,887,955...33,891,558 		JBrowse link
anaplastic large cell lymphoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ALK ALK receptor tyrosine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:16151469 PMID:19503098 PMID:21345110 PMID:22155737 PMID:22920921 More... NCBI chr2A:29,196,195...29,930,062
Ensembl chr2A:29,276,041...30,006,735 		JBrowse link
G HSP90AA1 heat shock protein 90 alpha family class A member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17157164 NCBI chr14:82,700,881...82,707,020
Ensembl chr14:102,519,699...102,576,723 		JBrowse link
G IRF4 interferon regulatory factor 4 ISO DNA:translocation RGD PMID:18987657 RGD:11526155 NCBI chr 6:206,282...226,487
Ensembl chr 6:342,718...356,654 		JBrowse link
G JUNB JunB proto-oncogene, AP-1 transcription factor subunit ISO RGD PMID:12145210 RGD:1549449 NCBI chr19:12,353,760...12,355,598
Ensembl chr19:13,097,931...13,098,974 		JBrowse link
G RELA RELA proto-oncogene, NF-kB subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:17261581 NCBI chr11:61,012,839...61,022,225
Ensembl chr11:64,347,859...64,356,868 		JBrowse link
G STAT3 signal transducer and activator of transcription 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22155737 NCBI chr17:14,928,689...15,003,644
Ensembl chr17:15,152,358...15,227,067 		JBrowse link
G TNFRSF8 TNF receptor superfamily member 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10908157 PMID:17261581 NCBI chr 1:10,813,111...10,893,005
Ensembl chr 1:12,029,038...12,108,495 		JBrowse link
G TWIST1 twist family bHLH transcription factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22155737 NCBI chr 7:19,761,041...19,765,665 JBrowse link
angioimmunoblastic T-cell lymphoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TET2 tet methylcytosine dioxygenase 2 ISO ClinVar Annotator: match by term: Angioimmunoblastic T-cell lymphoma ClinVar PMID:19797729 PMID:27210295 PMID:27276561 PMID:28337768 PMID:28492532 More... NCBI chr 4:97,612,439...97,745,544
Ensembl chr 4:108,269,082...108,358,400 		JBrowse link
autoimmune lymphoproliferative syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACTA2 actin alpha 2, smooth muscle ISO ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 1, autosomal dominant ClinVar PMID:10875918 PMID:16199547 PMID:18948840 PMID:22237435 PMID:25741868 More... NCBI chr10:85,660,983...85,678,729
Ensembl chr10:89,164,344...89,182,080 		JBrowse link
G ANKRD22 ankyrin repeat domain 22 ISO ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 1, autosomal dominant ClinVar PMID:10875918 PMID:22237435 PMID:28492532 NCBI chr10:85,546,939...85,577,698
Ensembl chr10:89,048,724...89,081,637 		JBrowse link
G ANKRD45 ankyrin repeat domain 45 ISO ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT ClinVar PMID:22857792 PMID:25451160 PMID:28492532 NCBI chr 1:149,127,108...149,232,776
Ensembl chr 1:152,832,935...152,892,971 		JBrowse link
G C1H1orf105 chromosome 1 C1orf105 homolog ISO ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT ClinVar PMID:22857792 PMID:25451160 PMID:28492532 NCBI chr 1:147,942,148...147,966,867
Ensembl chr 1:151,628,511...151,676,565 		JBrowse link
G CASP10 caspase 10 ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 1, autosomal dominant ClinVar PMID:11973654 PMID:25741868 PMID:27577878 PMID:27872624 PMID:28492532 More... NCBI chr2B:88,440,199...88,479,277
Ensembl chr2B:206,595,776...206,641,775 		JBrowse link
G CASP8 caspase 8 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr2B:88,490,611...88,542,132
Ensembl chr2B:206,669,544...206,696,468 		JBrowse link
G CENPL centromere protein L ISO ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT ClinVar PMID:22857792 PMID:25451160 PMID:28492532 NCBI chr 1:149,317,149...149,342,267
Ensembl chr 1:153,020,837...153,045,866 		JBrowse link
G CH25H cholesterol 25-hydroxylase ISO ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 1, autosomal dominant ClinVar PMID:10875918 PMID:22237435 PMID:28492532 NCBI chr10:85,930,638...85,932,065
Ensembl chr10:89,471,441...89,472,259 		JBrowse link
G DARS2 aspartyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT ClinVar PMID:22857792 PMID:25451160 PMID:28492532 NCBI chr 1:149,342,301...149,375,979
Ensembl chr 1:153,045,886...153,080,461 		JBrowse link
G DNM3 dynamin 3 ISO ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT ClinVar PMID:22857792 PMID:25451160 PMID:28492532 NCBI chr 1:147,339,773...147,916,513
Ensembl chr 1:151,049,346...151,615,808 		JBrowse link
G FAS Fas cell surface death receptor ISO 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
ClinVar		 PMID:1090885 PMID:2149015 PMID:4852259 PMID:7540117 PMID:9028321 More... NCBI chr10:85,707,457...85,741,539
Ensembl chr10:89,217,949...89,243,612 		JBrowse link
G FASLG Fas ligand ISO ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 1, autosomal dominant ClinVar
OMIM		 PMID:8787672 PMID:9536098 PMID:16627752 PMID:17576681 PMID:17605793 More... NCBI chr 1:148,159,826...148,167,785
Ensembl chr 1:151,868,430...151,876,281 		JBrowse link
G IFIT2 interferon induced protein with tetratricopeptide repeats 2 ISO ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 1, autosomal dominant ClinVar PMID:10875918 PMID:22237435 PMID:28492532 NCBI chr10:86,027,170...86,034,246
Ensembl chr10:89,566,827...89,573,795 		JBrowse link
G IFIT3 interferon induced protein with tetratricopeptide repeats 3 ISO ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 1, autosomal dominant ClinVar PMID:10875918 PMID:22237435 PMID:28492532 NCBI chr10:86,053,139...86,066,193
Ensembl chr10:89,592,578...89,605,800 		JBrowse link
G IFIT5 interferon induced protein with tetratricopeptide repeats 5 ISO ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT ClinVar PMID:28492532 NCBI chr10:86,139,816...86,146,244
Ensembl chr10:89,678,703...89,685,839 		JBrowse link
G KLHL20 kelch like family member 20 ISO ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT ClinVar PMID:22857792 PMID:25451160 PMID:28492532 NCBI chr 1:149,232,858...149,303,357
Ensembl chr 1:152,937,835...153,008,239 		JBrowse link
G LIPA lipase A, lysosomal acid type ISO ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 1, autosomal dominant ClinVar PMID:10875918 PMID:22237435 PMID:28492532 NCBI chr10:85,938,240...85,976,610
Ensembl chr10:89,477,082...89,516,874 		JBrowse link
G LIPF lipase F, gastric type ISO ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT ClinVar PMID:28492532 NCBI chr10:85,389,165...85,403,492
Ensembl chr10:88,892,525...88,906,898 		JBrowse link
G LIPJ lipase family member J ISO ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT ClinVar PMID:28492532 NCBI chr10:85,307,536...85,330,911
Ensembl chr10:88,816,492...88,832,860 		JBrowse link
G LIPK lipase family member K ISO ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT ClinVar PMID:28492532 NCBI chr10:85,430,807...85,478,506
Ensembl chr10:88,952,502...88,981,951 		JBrowse link
G LIPM lipase family member M ISO ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 1, autosomal dominant ClinVar PMID:10875918 PMID:22237435 PMID:28492532 NCBI chr10:85,528,337...85,547,789
Ensembl chr10:89,031,764...89,049,607 		JBrowse link
G LIPN lipase family member N ISO ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 1, autosomal dominant ClinVar PMID:10875918 PMID:22237435 PMID:28492532 NCBI chr10:85,485,727...85,505,268
Ensembl chr10:88,990,571...89,007,327 		JBrowse link
G LOC100976728 interferon-induced protein with tetratricopeptide repeats 1 ISO ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT ClinVar PMID:28492532 NCBI chr10:86,117,807...86,129,256
Ensembl chr10:89,667,149...89,668,579 		JBrowse link
G LOC100977291 interferon-induced protein with tetratricopeptide repeats 1B ISO ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT ClinVar PMID:28492532 NCBI chr10:86,094,636...86,109,924
Ensembl chr10:89,648,070...89,649,517 		JBrowse link
G METTL13 methyltransferase 13, eEF1A N-terminus and K55 ISO ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT ClinVar PMID:22857792 PMID:25451160 PMID:28492532 NCBI chr 1:147,279,795...147,295,884
Ensembl chr 1:150,986,851...151,005,571 		JBrowse link
G MMP9 matrix metallopeptidase 9 disease_progression ISO RGD PMID:21376533 RGD:13204846 NCBI chr20:42,346,305...42,354,018
Ensembl chr20:43,432,389...43,440,129 		JBrowse link
G MYOC myocilin ISO ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT ClinVar PMID:22857792 PMID:25451160 PMID:28492532 NCBI chr 1:147,128,541...147,146,227
Ensembl chr 1:150,841,630...150,858,628 		JBrowse link
G NRAS NRAS proto-oncogene, GTPase ISO CTD Direct Evidence: marker/mechanism CTD PMID:17517660 NCBI chr 1:87,837,146...87,850,013
Ensembl chr 1:122,890,505...122,903,585 		JBrowse link
G PIGC phosphatidylinositol glycan anchor biosynthesis class C ISO ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT ClinVar PMID:22857792 PMID:25451160 PMID:28492532 NCBI chr 1:147,891,867...147,942,057
Ensembl chr 1:151,649,468...151,650,361 		JBrowse link
G PRDX6 peroxiredoxin 6 ISO ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT ClinVar PMID:22857792 PMID:25451160 PMID:28492532 NCBI chr 1:148,988,836...149,000,345 JBrowse link
G RC3H1 ring finger and CCCH-type domains 1 ISO ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT ClinVar PMID:22857792 PMID:25451160 PMID:28492532 NCBI chr 1:149,454,748...149,539,566
Ensembl chr 1:153,160,661...153,213,402 		JBrowse link
G RNLS renalase, FAD dependent amine oxidase ISO ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT ClinVar PMID:28492532 NCBI chr10:84,996,999...85,304,240
Ensembl chr10:88,503,683...88,808,990 		JBrowse link
G SERPINC1 serpin family C member 1 ISO ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT ClinVar PMID:22857792 PMID:25451160 PMID:28492532 NCBI chr 1:149,421,737...149,435,301
Ensembl chr 1:153,126,031...153,139,369 		JBrowse link
G SLC16A12 solute carrier family 16 member 12 ISO ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT ClinVar PMID:28492532 NCBI chr10:86,155,527...86,187,917
Ensembl chr10:89,696,148...89,727,585 		JBrowse link
G SLC9C2 solute carrier family 9 member C2 (putative) ISO ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT ClinVar PMID:22857792 PMID:25451160 PMID:28492532 NCBI chr 1:149,012,063...149,127,843
Ensembl chr 1:152,718,175...152,826,534 		JBrowse link
G STAMBPL1 STAM binding protein like 1 ISO ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 1, autosomal dominant ClinVar PMID:10875918 PMID:22237435 PMID:28492532 NCBI chr10:85,605,651...85,649,268
Ensembl chr10:89,109,356...89,152,628 		JBrowse link
G SUCO SUN domain containing ossification factor ISO ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT ClinVar PMID:22857792 PMID:25451160 PMID:28492532 NCBI chr 1:148,030,922...148,112,755
Ensembl chr 1:151,739,934...151,821,285 		JBrowse link
G TNFSF18 TNF superfamily member 18 ISO ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT ClinVar PMID:22857792 PMID:25451160 PMID:28492532
G TNFSF4 TNF superfamily member 4 ISO ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT ClinVar PMID:22857792 PMID:25451160 PMID:28492532 NCBI chr 1:148,684,689...148,989,775
Ensembl chr 1:152,391,450...152,415,845
Ensembl chr 1:152,391,450...152,415,845 		JBrowse link
G VAMP4 vesicle associated membrane protein 4 ISO ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT ClinVar PMID:22857792 PMID:25451160 PMID:28492532 NCBI chr 1:147,192,001...147,233,945
Ensembl chr 1:150,903,134...150,944,815 		JBrowse link
G ZBTB37 zinc finger and BTB domain containing 37 ISO ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT ClinVar PMID:22857792 PMID:25451160 PMID:28492532 NCBI chr 1:149,386,001...149,406,436
Ensembl chr 1:153,090,898...153,109,767 		JBrowse link
autoimmune lymphoproliferative syndrome type 2A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CASP10 caspase 10 ISO ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIA | ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 2A OMIM
ClinVar		 PMID:9536098 PMID:10412980 PMID:11973654 PMID:16199547 PMID:16446975 More... NCBI chr2B:88,440,199...88,479,277
Ensembl chr2B:206,595,776...206,641,775 		JBrowse link
autoimmune lymphoproliferative syndrome type 2B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABI2 abl interactor 2 ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 2B ClinVar PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 More... NCBI chr2B:90,561,708...90,663,072
Ensembl chr2B:208,702,092...208,797,499 		JBrowse link
G ALS2 alsin Rho guanine nucleotide exchange factor ALS2 ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 2B ClinVar PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 More... NCBI chr2B:88,954,167...89,034,764
Ensembl chr2B:207,108,952...207,189,623 		JBrowse link
G BMPR2 bone morphogenetic protein receptor type 2 ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 2B ClinVar PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 More... NCBI chr2B:89,631,622...89,823,438
Ensembl chr2B:207,780,741...207,961,072 		JBrowse link
G C2CD6 C2 calcium dependent domain containing 6 ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 2B ClinVar PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 More... NCBI chr2B:88,742,121...88,873,268 JBrowse link
G CARF calcium responsive transcription factor ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 2B ClinVar PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 More... NCBI chr2B:90,145,504...90,224,042
Ensembl chr2B:208,291,742...208,367,028 		JBrowse link
G CASP10 caspase 10 ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 2B ClinVar PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 More... NCBI chr2B:88,440,199...88,479,277
Ensembl chr2B:206,595,776...206,641,775 		JBrowse link
G CASP8 caspase 8 ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 2B | ClinVar Annotator: match by term: Caspase-8 deficiency OMIM
ClinVar		 PMID:9536098 PMID:11343122 PMID:12353035 PMID:12577056 PMID:15601643 More... NCBI chr2B:88,490,611...88,542,132
Ensembl chr2B:206,669,544...206,696,468 		JBrowse link
G CD28 CD28 molecule ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 2B ClinVar PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 More... NCBI chr2B:90,938,795...90,971,438
Ensembl chr2B:209,076,388...209,111,213 		JBrowse link
G CDK15 cyclin dependent kinase 15 ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 2B ClinVar PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 More... NCBI chr2B:89,060,334...89,149,106
Ensembl chr2B:207,215,058...207,304,029 		JBrowse link
G CFLAR CASP8 and FADD like apoptosis regulator ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 2B ClinVar PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 More... NCBI chr2B:88,373,057...88,429,959
Ensembl chr2B:206,528,943...206,577,045 		JBrowse link
G CTLA4 cytotoxic T-lymphocyte associated protein 4 ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 2B ClinVar PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 More... NCBI chr2B:91,054,917...91,106,234
Ensembl chr2B:209,239,417...209,244,498 		JBrowse link
G CYP20A1 cytochrome P450 family 20 subfamily A member 1 ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 2B ClinVar PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 More... NCBI chr2B:90,473,024...90,539,177
Ensembl chr2B:208,615,273...208,672,731 		JBrowse link
G FAM117B family with sequence similarity 117 member B ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 2B ClinVar PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 More... NCBI chr2B:89,896,400...90,030,724
Ensembl chr2B:208,042,146...208,173,180 		JBrowse link
G FLACC1 flagellum associated containing coiled-coil domains 1 ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 2B ClinVar PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 More... NCBI chr2B:88,541,496...88,618,269
Ensembl chr2B:206,697,119...206,766,071 		JBrowse link
G FZD7 frizzled class receptor 7 ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 2B ClinVar PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 More... NCBI chr2B:89,290,929...89,294,873
Ensembl chr2B:207,439,942...207,446,283 		JBrowse link
G ICA1L islet cell autoantigen 1 like ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 2B ClinVar PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 More... NCBI chr2B:90,034,205...90,105,600
Ensembl chr2B:208,184,023...208,251,254 		JBrowse link
G ICOS inducible T cell costimulator ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 2B ClinVar PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 More... NCBI chr2B:91,168,998...91,193,808
Ensembl chr2B:209,307,938...209,332,734 		JBrowse link
G MPP4 MAGUK p55 scaffold protein 4 ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 2B ClinVar PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 More... NCBI chr2B:88,898,091...88,951,597
Ensembl chr2B:207,053,077...207,102,360 		JBrowse link
G NBEAL1 neurobeachin like 1 ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 2B ClinVar PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 More... NCBI chr2B:90,250,567...90,459,507
Ensembl chr2B:208,395,950...208,594,273 		JBrowse link
G NDUFB3 NADH:ubiquinone oxidoreductase subunit B3 ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 2B ClinVar PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 More... NCBI chr2B:88,329,424...88,343,180
Ensembl chr2B:206,487,905...206,501,709 		JBrowse link
G NOP58 NOP58 ribonucleoprotein ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 2B ClinVar PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 More... NCBI chr2B:89,520,961...89,558,794
Ensembl chr2B:207,674,654...207,707,763 		JBrowse link
G RAPH1 Ras association (RalGDS/AF-6) and pleckstrin homology domains 1 ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 2B ClinVar PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 More... NCBI chr2B:90,664,717...90,766,088
Ensembl chr2B:208,765,847...208,865,624 		JBrowse link
G STRADB STE20 related adaptor beta ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 2B ClinVar PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 More... NCBI chr2B:88,705,840...88,735,511
Ensembl chr2B:206,864,319...206,890,868 		JBrowse link
G SUMO1 small ubiquitin like modifier 1 ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 2B ClinVar PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 More... NCBI chr2B:89,461,773...89,493,879
Ensembl chr2B:207,613,654...207,645,590 		JBrowse link
G TMEM237 transmembrane protein 237 ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 2B ClinVar PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 More... NCBI chr2B:88,873,362...88,896,689
Ensembl chr2B:207,028,061...207,051,206 		JBrowse link
G TRAK2 trafficking kinesin protein 2 ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 2B ClinVar PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 More... NCBI chr2B:88,630,665...88,705,709
Ensembl chr2B:206,785,541...206,861,102 		JBrowse link
G WDR12 WD repeat domain 12 ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 2B ClinVar PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 More... NCBI chr2B:90,112,037...90,145,520
Ensembl chr2B:208,260,696...208,291,783 		JBrowse link
autoimmune lymphoproliferative syndrome type 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PRKCD protein kinase C delta ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome, type III OMIM
ClinVar		 PMID:9536098 PMID:11976687 PMID:16199547 PMID:17576681 PMID:23319571 More... NCBI chr 3:53,104,137...53,135,588
Ensembl chr 3:54,330,328...54,357,910 		JBrowse link
G RFT1 RFT1 homolog ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome, type III ClinVar PMID:11976687 PMID:23319571 PMID:23430113 PMID:28492532 NCBI chr 3:53,019,763...53,073,401
Ensembl chr 3:54,257,737...54,296,529 		JBrowse link
autoimmune lymphoproliferative syndrome type 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KRAS KRAS proto-oncogene, GTPase ISO 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 OMIM
ClinVar		 PMID:2278970 PMID:2547513 PMID:3122217 PMID:3627975 PMID:7773929 More... NCBI chr12:61,062,689...61,108,524
Ensembl chr12:63,679,293...63,724,335 		JBrowse link
G NRAS NRAS proto-oncogene, GTPase ISO ClinVar Annotator: match by term: RAS-associated autoimmune leukoproliferative disorder OMIM
ClinVar		 PMID:2278970 PMID:2407301 PMID:2674680 PMID:2989702 PMID:3122217 More... NCBI chr 1:87,837,146...87,850,013
Ensembl chr 1:122,890,505...122,903,585 		JBrowse link
Autoimmune Lymphoproliferative Syndrome, Type IA term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FAS Fas cell surface death receptor ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome, type 1a ClinVar PMID:4165068 PMID:4852259 PMID:7539157 PMID:7540117 PMID:8929361 More... NCBI chr10:85,707,457...85,741,539
Ensembl chr10:89,217,949...89,243,612 		JBrowse link
Autoimmune Lymphoproliferative Syndrome, Type IB term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FASLG Fas ligand ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome, type 1b ClinVar PMID:8787672 PMID:25741868 NCBI chr 1:148,159,826...148,167,785
Ensembl chr 1:151,868,430...151,876,281 		JBrowse link
Autoimmune Lymphoproliferative Syndrome, Type V term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABI2 abl interactor 2 ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type V ClinVar PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 More... NCBI chr2B:90,561,708...90,663,072
Ensembl chr2B:208,702,092...208,797,499 		JBrowse link
G ALS2 alsin Rho guanine nucleotide exchange factor ALS2 ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type V ClinVar PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 More... NCBI chr2B:88,954,167...89,034,764
Ensembl chr2B:207,108,952...207,189,623 		JBrowse link
G BMPR2 bone morphogenetic protein receptor type 2 ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type V ClinVar PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 More... NCBI chr2B:89,631,622...89,823,438
Ensembl chr2B:207,780,741...207,961,072 		JBrowse link
G C2CD6 C2 calcium dependent domain containing 6 ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type V ClinVar PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 More... NCBI chr2B:88,742,121...88,873,268 JBrowse link
G CARF calcium responsive transcription factor ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type V ClinVar PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 More... NCBI chr2B:90,145,504...90,224,042
Ensembl chr2B:208,291,742...208,367,028 		JBrowse link
G CASP10 caspase 10 ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type V ClinVar PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 More... NCBI chr2B:88,440,199...88,479,277
Ensembl chr2B:206,595,776...206,641,775 		JBrowse link
G CASP8 caspase 8 ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type V ClinVar PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 More... NCBI chr2B:88,490,611...88,542,132
Ensembl chr2B:206,669,544...206,696,468 		JBrowse link
G CD28 CD28 molecule ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type V ClinVar PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 More... NCBI chr2B:90,938,795...90,971,438
Ensembl chr2B:209,076,388...209,111,213 		JBrowse link
G CDK15 cyclin dependent kinase 15 ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type V ClinVar PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 More... NCBI chr2B:89,060,334...89,149,106
Ensembl chr2B:207,215,058...207,304,029 		JBrowse link
G CFLAR CASP8 and FADD like apoptosis regulator ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type V ClinVar PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 More... NCBI chr2B:88,373,057...88,429,959
Ensembl chr2B:206,528,943...206,577,045 		JBrowse link
G CTLA4 cytotoxic T-lymphocyte associated protein 4 susceptibility ISO 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 ClinVar
OMIM		 PMID:8817351 PMID:9259273 PMID:9398726 PMID:9536098 PMID:10189842 More... NCBI chr2B:91,054,917...91,106,234
Ensembl chr2B:209,239,417...209,244,498 		JBrowse link
G CYP20A1 cytochrome P450 family 20 subfamily A member 1 ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type V ClinVar PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 More... NCBI chr2B:90,473,024...90,539,177
Ensembl chr2B:208,615,273...208,672,731 		JBrowse link
G FAM117B family with sequence similarity 117 member B ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type V ClinVar PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 More... NCBI chr2B:89,896,400...90,030,724
Ensembl chr2B:208,042,146...208,173,180 		JBrowse link
G FLACC1 flagellum associated containing coiled-coil domains 1 ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type V ClinVar PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 More... NCBI chr2B:88,541,496...88,618,269
Ensembl chr2B:206,697,119...206,766,071 		JBrowse link
G FZD7 frizzled class receptor 7 ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type V ClinVar PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 More... NCBI chr2B:89,290,929...89,294,873
Ensembl chr2B:207,439,942...207,446,283 		JBrowse link
G ICA1L islet cell autoantigen 1 like ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type V ClinVar PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 More... NCBI chr2B:90,034,205...90,105,600
Ensembl chr2B:208,184,023...208,251,254 		JBrowse link
G ICOS inducible T cell costimulator ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type V ClinVar PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 More... NCBI chr2B:91,168,998...91,193,808
Ensembl chr2B:209,307,938...209,332,734 		JBrowse link
G MPP4 MAGUK p55 scaffold protein 4 ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type V ClinVar PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 More... NCBI chr2B:88,898,091...88,951,597
Ensembl chr2B:207,053,077...207,102,360 		JBrowse link
G NBEAL1 neurobeachin like 1 ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type V ClinVar PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 More... NCBI chr2B:90,250,567...90,459,507
Ensembl chr2B:208,395,950...208,594,273 		JBrowse link
G NDUFB3 NADH:ubiquinone oxidoreductase subunit B3 ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type V ClinVar PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 More... NCBI chr2B:88,329,424...88,343,180
Ensembl chr2B:206,487,905...206,501,709 		JBrowse link
G NOP58 NOP58 ribonucleoprotein ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type V ClinVar PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 More... NCBI chr2B:89,520,961...89,558,794
Ensembl chr2B:207,674,654...207,707,763 		JBrowse link
G RAPH1 Ras association (RalGDS/AF-6) and pleckstrin homology domains 1 ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type V ClinVar PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 More... NCBI chr2B:90,664,717...90,766,088
Ensembl chr2B:208,765,847...208,865,624 		JBrowse link
G STRADB STE20 related adaptor beta ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type V ClinVar PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 More... NCBI chr2B:88,705,840...88,735,511
Ensembl chr2B:206,864,319...206,890,868 		JBrowse link
G SUMO1 small ubiquitin like modifier 1 ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type V ClinVar PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 More... NCBI chr2B:89,461,773...89,493,879
Ensembl chr2B:207,613,654...207,645,590 		JBrowse link
G TMEM237 transmembrane protein 237 ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type V ClinVar PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 More... NCBI chr2B:88,873,362...88,896,689
Ensembl chr2B:207,028,061...207,051,206 		JBrowse link
G TRAK2 trafficking kinesin protein 2 ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type V ClinVar PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 More... NCBI chr2B:88,630,665...88,705,709
Ensembl chr2B:206,785,541...206,861,102 		JBrowse link
G WDR12 WD repeat domain 12 ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type V ClinVar PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 More... NCBI chr2B:90,112,037...90,145,520
Ensembl chr2B:208,260,696...208,291,783 		JBrowse link
autosomal recessive osteopetrosis 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TNFRSF11A TNF receptor superfamily member 11a ISO ClinVar Annotator: match by term: Autosomal recessive osteoclast-poor osteopetrosis with hypogammaglobulinemia | ClinVar Annotator: match by term: Autosomal recessive osteopetrosis 7 OMIM
ClinVar		 PMID:9536098 PMID:15231021 PMID:17576681 PMID:18606301 PMID:19940926 More... NCBI chr18:55,695,394...55,761,307
Ensembl chr18:59,034,770...59,075,044 		JBrowse link
B-cell acute lymphoblastic leukemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ERCC4 ERCC excision repair 4, endonuclease catalytic subunit ISO ClinVar Annotator: match by term: Precursor B-cell acute lymphoblastic leukemia ClinVar PMID:23623386 PMID:25741868 NCBI chr16:12,848,334...12,880,480
Ensembl chr16:14,272,417...14,304,496 		JBrowse link
G NF1 neurofibromin 1 ISO ClinVar Annotator: match by term: Precursor B-cell acute lymphoblastic leukemia ClinVar PMID:9536098 PMID:17576681 PMID:23656349 PMID:25741868 PMID:28492532 NCBI chr17:25,425,081...25,703,689
Ensembl chr17:26,160,855...26,439,295 		JBrowse link
G WT1 WT1 transcription factor ISO ClinVar Annotator: match by term: B Acute Lymphoblastic Leukemia ClinVar PMID:8621495 PMID:12640141 PMID:16987884 PMID:25741868 PMID:28492532 More... NCBI chr11:32,349,807...32,398,494
Ensembl chr11:32,238,720...32,287,249 		JBrowse link
B-Cell Chronic Lymphocytic Leukemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCG2 ATP binding cassette subfamily G member 2 (JR blood group) susceptibility ISO DNA:SNPs,haplotype: :rs1481012,rs2231142(human) RGD PMID:21918980 RGD:11080977 NCBI chr 4:80,379,108...80,446,641
Ensembl chr 4:91,101,321...91,170,157 		JBrowse link
G ACOXL acyl-CoA oxidase like ISO CTD Direct Evidence: marker/mechanism CTD PMID:23770605 NCBI chr2A:90,912,247...91,300,770
Ensembl chr2A:111,985,358...112,335,160 		JBrowse link
G AICDA activation induced cytidine deaminase disease_progression ISO RGD PMID:21133730 RGD:11039455 NCBI chr12:8,688,392...8,699,008
Ensembl chr12:8,904,273...8,913,917 		JBrowse link
G APOE apolipoprotein E disease_progression ISO RGD PMID:18784741 RGD:11040549 NCBI chr19:41,853,669...41,857,252
Ensembl chr19:50,459,906...50,463,490 		JBrowse link
G ATM ATM serine/threonine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:17968022 NCBI chr11:103,109,979...103,256,405
Ensembl chr11:106,584,228...106,727,041 		JBrowse link
G BCL11A BCL11 transcription factor A ISO DNA:translocation:5' utr: (human) RGD PMID:11719382 RGD:11100004 NCBI chr2A:60,552,908...60,655,437
Ensembl chr2A:61,695,613...61,795,800 		JBrowse link
G BCL2 BCL2 apoptosis regulator severity
no_association
treatment		 ISO CTD Direct Evidence: marker/mechanism
protein:increased expression:B cell (human)
DNA:snp:promoter:g.-938C>A (human)		 CTD
RGD		 PMID:16960146 PMID:17296974 PMID:17959858 PMID:20001236 PMID:21750559 More... RGD:11522735 RGD:11526104 RGD:11526105 RGD:11526110 NCBI chr18:56,481,212...56,679,012
Ensembl chr18:59,802,443...59,992,100 		JBrowse link
G BMF Bcl2 modifying factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:23770605 NCBI chr15:19,026,053...19,047,008
Ensembl chr15:37,281,655...37,302,075 		JBrowse link
G BRAF B-Raf proto-oncogene, serine/threonine kinase ISO ClinVar Annotator: match by term: B-cell chronic lymphocytic leukemia | ClinVar Annotator: match by term: Leukemia, B-cell, chronic ClinVar PMID:12068308 PMID:12198537 PMID:12692057 PMID:12960123 PMID:14612909 More... NCBI chr 7:132,651,908...132,855,422
Ensembl chr 7:145,138,510...145,327,115 		JBrowse link
G BTK Bruton tyrosine kinase treatment ISO ClinVar Annotator: match by term: B-cell chronic lymphocytic leukemia RGD
ClinVar		 PMID:23045577 PMID:24869598 PMID:25741868 PMID:28492532 RGD:11040699 NCBI chr  X:90,551,874...90,588,786
Ensembl chr  X:100,684,017...100,725,187 		JBrowse link
G C9H11orf21 chromosome 9 C11orf21 homolog ISO CTD Direct Evidence: marker/mechanism CTD PMID:23770605 NCBI chr11:2,332,841...2,348,227
Ensembl chr11:2,361,217...2,367,568 		JBrowse link
G CBL Cbl proto-oncogene severity ISO mRNA,protein:increased expression:CD5+ B cell:
DNA:hypophosphorylation:CD5+ B cell:		 RGD PMID:17804547 RGD:11038803 NCBI chr11:114,044,996...114,149,204
Ensembl chr11:117,973,187...118,074,671 		JBrowse link
G CCDC50 coiled-coil domain containing 50 ISO RGD PMID:19641524 RGD:9685139 NCBI chr 3:188,621,004...188,686,831
Ensembl chr 3:196,968,817...197,031,790 		JBrowse link
G CD40 CD40 molecule ISO RGD PMID:20616215 RGD:5490532 NCBI chr20:42,455,711...42,467,139
Ensembl chr20:43,541,619...43,552,994 		JBrowse link
G CD40LG CD40 ligand ISO mouse-human chimeric gene in human RGD PMID:20882050 RGD:11352235 NCBI chr  X:125,776,138...125,788,820
Ensembl chr  X:136,042,849...136,058,202 		JBrowse link
G CD5 CD5 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:18006695 NCBI chr11:56,362,415...56,388,469
Ensembl chr11:59,801,808...59,826,448 		JBrowse link
G CD79B CD79b molecule ISO protein:decreased expression:B lymphocyte, cell surface (human)
mRNA, protein:splice variants, alternative forms:exon 3 (human)
DNA:polymorphism:multiple (human)		 RGD PMID:9269755 PMID:10090943 PMID:10552962 RGD:11250403 RGD:151665190 RGD:151665202 NCBI chr17:58,022,375...58,026,359
Ensembl chr17:63,116,722...63,120,335 		JBrowse link
G CD86 CD86 molecule severity ISO protein:increased expression:peripheral blood mononuclear cell (human) RGD PMID:25179679 RGD:11354969 NCBI chr 3:119,151,884...119,217,641
Ensembl chr 3:126,059,008...126,124,339 		JBrowse link
G CPEB1 cytoplasmic polyadenylation element binding protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20062064 NCBI chr15:62,949,264...63,053,994
Ensembl chr15:80,443,096...80,526,948 		JBrowse link
G CTLA4 cytotoxic T-lymphocyte associated protein 4 ISO protein:increased expression:T cell RGD PMID:15914560 PMID:16094420 RGD:11344923 RGD:11352246 NCBI chr2B:91,054,917...91,106,234
Ensembl chr2B:209,239,417...209,244,498 		JBrowse link
G DKC1 dyskerin pseudouridine synthase 1 ISO RGD PMID:18077792 RGD:11251735 NCBI chr  X:144,243,493...144,257,419
Ensembl chr  X:154,084,412...154,098,475 		JBrowse link
G DNMT3B DNA methyltransferase 3 beta ISO mRNA:decreased expression: B cell RGD PMID:15467427 RGD:9589146 NCBI chr20:29,049,993...29,096,957
Ensembl chr20:30,186,069...30,215,487 		JBrowse link
G ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit severity ISO DNA:SNP: :p.K751Q (rs13181) (human) RGD PMID:19484764 PMID:22739018 RGD:11252203 RGD:11252204 NCBI chr19:42,298,927...42,319,816
Ensembl chr19:50,897,004...50,915,819 		JBrowse link
G FARP2 FERM, ARH/RhoGEF and pleckstrin domain protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20062064 NCBI chr2B:128,627,208...128,766,233
Ensembl chr2B:247,438,265...247,559,735 		JBrowse link
G FAS Fas cell surface death receptor disease_progression ISO RGD PMID:12901972 RGD:11049461 NCBI chr10:85,707,457...85,741,539
Ensembl chr10:89,217,949...89,243,612 		JBrowse link
G FBXW7 F-box and WD repeat domain containing 7 ISO ClinVar Annotator: match by term: Leukemia, B-cell, chronic ClinVar PMID:25741868 PMID:26619011 NCBI chr 4:144,660,676...144,874,404
Ensembl chr 4:156,312,274...156,402,351 		JBrowse link
G FCGR3A Fc gamma receptor IIIa no_association ISO DNA:SNP:exon:p.F158V (rs396991) (human) RGD PMID:14563637 RGD:11352260 NCBI chr 1:137,027,943...137,036,738 JBrowse link
G GNAS GNAS complex locus disease_progression ISO DNA:polymorphism:393T>C (human) RGD PMID:17020971 RGD:1601379 NCBI chr20:55,190,607...55,262,245 JBrowse link
G HRAS HRas proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Leukemia, B-cell, chronic ClinVar PMID:12835555 PMID:16329078 PMID:16372351 PMID:16835863 PMID:17211612 More... NCBI chr11:537,488...540,810
Ensembl chr11:568,305...571,078 		JBrowse link
G ICAM1 intercellular adhesion molecule 1 severity ISO RGD PMID:7658704 RGD:11354983 NCBI chr19:9,821,402...9,837,021
Ensembl chr19:10,484,414...10,500,605 		JBrowse link
G IFNG interferon gamma susceptibility ISO DNA:polymorphism: :847A>T(human) RGD PMID:19757192 RGD:10755703 NCBI chr12:65,663,764...65,668,732
Ensembl chr12:68,448,861...68,453,829 		JBrowse link
G IL10 interleukin 10 disease_progression
no_association		 ISO protein:increased expression:serum
DNA:SNPs: :rs1800890, rs4072227, rs17015865 (human)
DNA:SNPs: :multiple		 RGD PMID:10638947 PMID:19573080 PMID:22945689 RGD:11041895 RGD:11049165 RGD:11049174 NCBI chr 1:182,369,234...182,374,207
Ensembl chr 1:186,648,289...186,653,371 		JBrowse link
G IL19 interleukin 19 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18006695 NCBI chr 1:182,372,339...182,446,147
Ensembl chr 1:186,651,640...186,724,748 		JBrowse link
G IL1A interleukin 1 alpha ISO RGD PMID:19074885 RGD:11051968 NCBI chr2A:89,273,482...89,284,421
Ensembl chr2A:113,784,854...113,795,801 		JBrowse link
G IL1B interleukin 1 beta severity ISO DNA:SNP:promoter:-511C>T (human)
protein:decreased expression:plasma:		 RGD PMID:10870116 PMID:18271063 RGD:11051967 RGD:11522755 NCBI chr2A:89,216,313...89,223,358
Ensembl chr2A:113,846,306...113,853,424 		JBrowse link
G IL1RN interleukin 1 receptor antagonist ISO protein:decreased expression:plasma: RGD PMID:10870116 RGD:11522755 NCBI chr2A:88,991,646...89,008,013
Ensembl chr2A:114,061,182...114,078,839 		JBrowse link
G IL6 interleukin 6 ISO protein:increased expression:plasma:
CTD Direct Evidence: marker/mechanism		 RGD
CTD		 PMID:10870116 PMID:18006695 RGD:11522755 NCBI chr 7:23,415,922...23,420,767 JBrowse link
G IRF4 interferon regulatory factor 4 disease_progression ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:12079517 PMID:12393648 PMID:18758461 RGD:11526160 RGD:11530024 NCBI chr 6:206,282...226,487
Ensembl chr 6:342,718...356,654 		JBrowse link
G ITGA4 integrin subunit alpha 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21093051 NCBI chr2B:68,719,376...68,802,488
Ensembl chr2B:186,530,187...186,612,203 		JBrowse link
G KLRC4 killer cell lectin like receptor C4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18006695 NCBI chr12:10,418,672...10,449,250
Ensembl chr12:10,697,454...10,699,818 		JBrowse link
G KRAS KRAS proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Leukemia, B-cell, chronic ClinVar PMID:2278970 PMID:3122217 PMID:12460918 PMID:15696205 PMID:16361624 More... NCBI chr12:61,062,689...61,108,524
Ensembl chr12:63,679,293...63,724,335 		JBrowse link
G LEF1 lymphoid enhancer binding factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23770605 NCBI chr 4:100,552,959...100,674,156
Ensembl chr 4:111,125,312...111,245,980 		JBrowse link
G LOC100979315 phorbol-12-myristate-13-acetate-induced protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23770605 NCBI chr18:53,286,590...53,290,913
Ensembl chr18:56,611,098...56,615,449 		JBrowse link
G LOC100981392 leukocyte immunoglobulin-like receptor subfamily A member 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18006695 NCBI chr19:51,287,944...51,294,118
Ensembl chr19:60,128,447...60,134,248 		JBrowse link
G LRRC56 leucine rich repeat containing 56 ISO ClinVar Annotator: match by term: Leukemia, B-cell, chronic ClinVar PMID:12835555 PMID:16329078 PMID:16372351 PMID:16835863 PMID:17211612 More... NCBI chr11:514,227...559,838
Ensembl chr11:575,495...588,750 		JBrowse link
G MS4A1 membrane spanning 4-domains A1 ISO RGD PMID:19911856 RGD:2316994 NCBI chr11:55,691,750...55,706,697
Ensembl chr11:59,134,617...59,149,521 		JBrowse link
G MTHFR methylenetetrahydrofolate reductase ISO CTD Direct Evidence: marker/mechanism CTD PMID:16706930 NCBI chr 1:10,548,196...10,568,174
Ensembl chr 1:11,766,334...11,785,419 		JBrowse link
G MYD88 MYD88 innate immune signal transduction adaptor ISO ClinVar Annotator: match by term: Leukemia, B-cell, chronic ClinVar PMID:21179087 PMID:22931316 PMID:23215570 PMID:23355535 PMID:26619011 More... NCBI chr 3:38,036,565...38,041,014
Ensembl chr 3:38,319,024...38,323,572 		JBrowse link
G NRAS NRAS proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Leukemia, B-cell, chronic ClinVar PMID:1654209 PMID:2278970 PMID:2674680 PMID:3122217 PMID:6587382 More... NCBI chr 1:87,837,146...87,850,013
Ensembl chr 1:122,890,505...122,903,585 		JBrowse link
G P2RX7 purinergic receptor P2X 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11003599 NCBI chr12:118,731,761...118,786,039
Ensembl chr12:122,102,888...122,154,068 		JBrowse link
G PECAM1 platelet and endothelial cell adhesion molecule 1 severity ISO protein:increased expression:B cell (human) RGD PMID:12673718 RGD:11541127 NCBI chr17:58,417,134...58,526,409
Ensembl chr17:63,511,784...63,579,067 		JBrowse link
G PLCG2 phospholipase C gamma 2 ISO ClinVar Annotator: match by term: B-cell chronic lymphocytic leukemia ClinVar PMID:24869598 PMID:28492532 NCBI chr16:62,383,270...62,561,579
Ensembl chr16:81,812,565...81,984,064 		JBrowse link
G POLB DNA polymerase beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:18006695 NCBI chr 8:41,582,370...41,615,950
Ensembl chr 8:39,026,991...39,060,464 		JBrowse link
G PPP2R5C protein phosphatase 2 regulatory subunit B'gamma ISO CTD Direct Evidence: marker/mechanism CTD PMID:16038780 NCBI chr14:82,383,086...82,549,822
Ensembl chr14:102,206,396...102,372,978 		JBrowse link
G PRKD2 protein kinase D2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18758461 NCBI chr19:43,666,591...43,710,858
Ensembl chr19:52,195,303...52,237,731 		JBrowse link
G PTGS2 prostaglandin-endoperoxide synthase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16314473 NCBI chr 1:162,205,534...162,214,130
Ensembl chr 1:166,355,845...166,364,519 		JBrowse link
G PTPN11 protein tyrosine phosphatase non-receptor type 11 ISO ClinVar Annotator: match by term: B-cell chronic lymphocytic leukemia | ClinVar Annotator: match by term: Leukemia, B-cell, chronic ClinVar PMID:12161469 PMID:12717436 PMID:14644997 PMID:14982869 PMID:15385933 More... NCBI chr12:110,016,364...110,107,462
Ensembl chr12:113,435,669...113,503,762 		JBrowse link
G QPCT glutaminyl-peptide cyclotransferase ISO CTD Direct Evidence: marker/mechanism CTD PMID:23770605 NCBI chr2A:37,371,848...37,400,820
Ensembl chr2A:38,136,532...38,165,254 		JBrowse link
G RBL2 RB transcriptional corepressor like 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16038780 NCBI chr16:33,674,751...33,731,308
Ensembl chr16:52,759,290...52,816,175 		JBrowse link
G SF3B1 splicing factor 3b subunit 1 ISO ClinVar Annotator: match by term: B-cell chronic lymphocytic leukemia | ClinVar Annotator: match by term: Leukemia, B-cell, chronic ClinVar PMID:23634996 PMID:25741868 PMID:26619011 NCBI chr2B:84,633,272...84,678,602
Ensembl chr2B:202,530,200...202,573,346 		JBrowse link
G SF3B2 splicing factor 3b subunit 2 ISO ClinVar Annotator: match by term: B-cell chronic lymphocytic leukemia | ClinVar Annotator: match by term: Leukemia, B-cell, chronic ClinVar PMID:26619011 NCBI chr11:61,416,764...61,433,334
Ensembl chr11:64,743,629...64,759,772 		JBrowse link
G SP140 SP140 nuclear body protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:18758461 NCBI chr2B:117,477,923...117,565,367
Ensembl chr2B:236,279,460...236,366,314 		JBrowse link
G TERT telomerase reverse transcriptase disease_progression ISO RGD PMID:17344921 RGD:11038662 Ensembl chr 5:1,300,960...1,338,872 JBrowse link
G TFRC transferrin receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:16904380 NCBI chr 3:193,384,817...193,417,532
Ensembl chr 3:203,333,953...203,373,998 		JBrowse link
G THBD thrombomodulin ISO RGD PMID:21812019 RGD:5685033 NCBI chr20:22,992,341...22,996,415
Ensembl chr20:23,345,917...23,347,812 		JBrowse link
G TNF tumor necrosis factor disease_progression ISO protein:increased expression:bone marrow, blood, lymphocyte RGD PMID:12010662 PMID:22945689 RGD:10449463 RGD:11041895 NCBI chr 6:31,236,650...31,239,423
Ensembl chr 6:32,126,618...32,129,381 		JBrowse link
G TNFRSF10A TNF receptor superfamily member 10a susceptibility ISO DNA:SNP: :1322A>G (human)
DNA:missense mutation:cds:p.E228A (c.683A>C) (human)		 RGD PMID:15531454 PMID:16217763 RGD:11038717 RGD:11038718 NCBI chr 8:22,440,502...22,476,790
Ensembl chr 8:19,378,547...19,414,724 		JBrowse link
G TNFRSF11A TNF receptor superfamily member 11a ISO CTD Direct Evidence: marker/mechanism CTD PMID:16270354 NCBI chr18:55,695,394...55,761,307
Ensembl chr18:59,034,770...59,075,044 		JBrowse link
G TNFSF11 TNF superfamily member 11 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16270354 NCBI chr13:23,750,835...23,784,740 JBrowse link
G TNFSF13 TNF superfamily member 13 ISO protein:increased expression:serum RGD PMID:15488762 RGD:1549466 NCBI chr17:7,589,931...7,593,527
Ensembl chr17:7,576,465...7,579,834 		JBrowse link
G TNFSF8 TNF superfamily member 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9058727 NCBI chr 9:85,998,567...86,036,373
Ensembl chr 9:114,360,206...114,397,822 		JBrowse link
G TOPBP1 DNA topoisomerase II binding protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18006695 NCBI chr 3:130,667,998...130,729,569
Ensembl chr 3:138,143,893...138,203,363 		JBrowse link
G TP53 tumor protein p53 disease_progression ISO DNA:deletion: :
ClinVar Annotator: match by term: B-cell chronic lymphocytic leukemia | ClinVar Annotator: match by term: Leukemia, B-cell, chronic		 RGD
ClinVar		 PMID:253702 PMID:1565143 PMID:1565144 PMID:1631137 PMID:1679237 More... RGD:11075074 NCBI chr17:7,699,449...7,717,812
Ensembl chr17:7,684,922...7,706,120 		JBrowse link
G VDR vitamin D receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:12446453 NCBI chr12:40,828,413...40,891,700
Ensembl chr12:41,702,742...41,766,192 		JBrowse link
G XPO1 exportin 1 ISO ClinVar Annotator: match by term: Leukemia, B-cell, chronic ClinVar PMID:26619011 NCBI chr2A:61,562,372...61,622,841
Ensembl chr2A:62,698,935...62,757,793 		JBrowse link
G XRCC1 X-ray repair cross complementing 1 severity
no_association		 ISO DNA:SNP: :p.R399Q (rs25487) (human)
DNA:SNP: :p.R194W (rs1799782), p.R280H (25489) (human)		 RGD PMID:19484764 RGD:11252204 NCBI chr19:40,485,052...40,522,188
Ensembl chr19:49,094,014...49,125,520 		JBrowse link
B-cell lymphoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCG2 ATP binding cassette subfamily G member 2 (JR blood group) susceptibility ISO DNA:SNP: :rs6857600(human) RGD PMID:21918980 RGD:11080977 NCBI chr 4:80,379,108...80,446,641
Ensembl chr 4:91,101,321...91,170,157 		JBrowse link
G AICDA activation induced cytidine deaminase ISO RGD PMID:17251349 RGD:11039449 NCBI chr12:8,688,392...8,699,008
Ensembl chr12:8,904,273...8,913,917 		JBrowse link
G BCL6 BCL6 transcription repressor ISO diffuse large B-cell lymphoma DNA:translocation:promoter,CDS:t(3;16)(q27;p11) results in IL21R promoter fused to BCL6 coding region RGD PMID:11821949 RGD:1600111 NCBI chr 3:184,748,135...184,772,375
Ensembl chr 3:193,308,296...193,332,124 		JBrowse link
G BRD2 bromodomain containing 2 ISO RGD PMID:14563639 RGD:9586345 NCBI chr 6:32,538,130...32,550,823
Ensembl chr 6:33,657,648...33,666,031 		JBrowse link
G BTK Bruton tyrosine kinase treatment ISO human cell in a mouse model RGD PMID:25662332 PMID:28348046 RGD:11040764 RGD:124713554 NCBI chr  X:90,551,874...90,588,786
Ensembl chr  X:100,684,017...100,725,187 		JBrowse link
G CBX7 chromobox 7 ISO RGD PMID:17374722 RGD:11352707 NCBI chr22:20,037,529...20,059,459
Ensembl chr22:37,854,056...37,876,084 		JBrowse link
G CD40 CD40 molecule ISO RGD PMID:20616215 RGD:5490532 NCBI chr20:42,455,711...42,467,139
Ensembl chr20:43,541,619...43,552,994 		JBrowse link
G CSF2 colony stimulating factor 2 treatment ISO RGD PMID:8469286 RGD:10450244 NCBI chr 5:127,496,951...127,499,325
Ensembl chr 5:133,660,775...133,663,146 		JBrowse link
G CSF3 colony stimulating factor 3 ISO CTD Direct Evidence: therapeutic CTD PMID:11042651 NCBI chr17:17,271,074...17,273,493
Ensembl chr17:17,491,276...17,493,729 		JBrowse link
G EAF2 ELL associated factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20564326 NCBI chr 3:118,936,685...118,996,051
Ensembl chr 3:125,844,338...125,895,416 		JBrowse link
G EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit severity
treatment		 ISO RGD
MouseDO		 PMID:23982173 PMID:29456795 RGD:10755356 RGD:126781726 NCBI chr 7:140,536,962...140,613,104
Ensembl chr 7:153,017,590...153,059,726 		JBrowse link
G IL21R interleukin 21 receptor ISO diffuse large B-cell lymphoma DNA:translocation:promoter,CDS:t(3;16)(q27;p11) results in IL21R promoter fused to BCL6 coding region RGD PMID:11821949 RGD:1600111 Ensembl chr16:27,774,864...27,821,769 JBrowse link
G JAK3 Janus kinase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24837469 NCBI chr19:17,299,129...17,330,700
Ensembl chr19:18,283,560...18,300,964 		JBrowse link
G KAT5 lysine acetyltransferase 5 severity ISO RGD PMID:17728759 RGD:9588481 NCBI chr11:61,071,118...61,078,667
Ensembl chr11:64,404,572...64,412,667 		JBrowse link
G LGALS1 galectin 1 ISO protein:increased expression:primary tumor (rat) RGD PMID:16733672 RGD:2316550 NCBI chr22:18,593,154...18,597,432
Ensembl chr22:36,426,228...36,430,356 		JBrowse link
G LOC100988550 signal transducer and activator of transcription 5A ISO RGD PMID:27018255 RGD:151665817 NCBI chr17:15,005,025...15,029,110
Ensembl chr17:15,228,465...15,251,783 		JBrowse link
G NRAS NRAS proto-oncogene, GTPase ISO CTD Direct Evidence: marker/mechanism CTD PMID:14633661 NCBI chr 1:87,837,146...87,850,013
Ensembl chr 1:122,890,505...122,903,585 		JBrowse link
G PTGS2 prostaglandin-endoperoxide synthase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:14654083 NCBI chr 1:162,205,534...162,214,130
Ensembl chr 1:166,355,845...166,364,519 		JBrowse link
G PTPN1 protein tyrosine phosphatase non-receptor type 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24531327 NCBI chr20:46,854,918...46,929,509
Ensembl chr20:47,983,098...48,057,421 		JBrowse link
G TNFSF8 TNF superfamily member 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9058727 NCBI chr 9:85,998,567...86,036,373
Ensembl chr 9:114,360,206...114,397,822 		JBrowse link
G TNFSF9 TNF superfamily member 9 ISO RGD PMID:10202049 RGD:2317349 NCBI chr19:5,558,021...5,562,901
Ensembl chr19:6,476,941...6,483,352 		JBrowse link
B-lymphoblastic leukemia/lymphoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABL1 ABL proto-oncogene 1, non-receptor tyrosine kinase treatment ISO RGD PMID:21481795 RGD:11038814 NCBI chr 9:101,834,189...102,005,811
Ensembl chr 9:130,484,333...130,652,941 		JBrowse link
G AHR aryl hydrocarbon receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:35687267 NCBI chr 7:17,949,254...17,998,737
Ensembl chr 7:17,278,637...17,326,171 		JBrowse link
G AKR1C3 aldo-keto reductase family 1 member C3 treatment ISO RGD PMID:26116659 RGD:11541128 NCBI chr10:5,079,580...5,157,572
Ensembl chr10:5,081,214...5,139,812 		JBrowse link
G ATF7IP activating transcription factor 7 interacting protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:24413735 NCBI chr12:14,373,084...14,504,286
Ensembl chr12:14,789,794...14,900,411 		JBrowse link
G BCL2L1 BCL2 like 1 severity ISO RGD PMID:18216295 RGD:11531108 NCBI chr20:27,955,688...28,015,950
Ensembl chr20:29,088,055...29,146,585 		JBrowse link
G BCR BCR activator of RhoGEF and GTPase ISO BCR/ABL fusion RGD PMID:9310467 RGD:41404633
G BRD2 bromodomain containing 2 ISO RGD PMID:14563639 RGD:9586345 NCBI chr 6:32,538,130...32,550,823
Ensembl chr 6:33,657,648...33,666,031 		JBrowse link
G CCN2 cellular communication network factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24154679 NCBI chr 6:129,729,572...129,733,113
Ensembl chr 6:133,836,319...133,842,077 		JBrowse link
G CCND1 cyclin D1 ISO mRNA:increased expression:B cell (mouse) RGD PMID:23169640 RGD:11353783 NCBI chr11:64,737,006...64,750,353 JBrowse link
G CDKN2A cyclin dependent kinase inhibitor 2A susceptibility
treatment		 ISO DNA:mutation:cds:c.442C>T,p.A148T,rs3731249 (human) RGD PMID:16618932 PMID:21622646 PMID:26104880 RGD:11057958 RGD:11251751 RGD:11251772 NCBI chr 9:21,803,862...21,831,322 JBrowse link
G CYP3A5 cytochrome P450 family 3 subfamily A member 5 treatment ISO DNA:polymorphisms: : RGD PMID:21225912 RGD:11353807 NCBI chr 7:91,621,561...91,654,164
Ensembl chr 7:105,123,437...105,155,322 		JBrowse link
G ETV6 ETS variant transcription factor 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15217836 PMID:24413735 PMID:25807284 NCBI chr12:11,675,955...11,920,913
Ensembl chr12:11,844,939...12,179,537 		JBrowse link
G F13A1 coagulation factor XIII A chain ISO protein:increased expression:B lymphoblast: RGD PMID:16894461 RGD:11041855 NCBI chr 6:5,978,505...6,156,705
Ensembl chr 6:6,157,926...6,513,961 		JBrowse link
G F3 coagulation factor III, tissue factor treatment ISO RGD PMID:19874310 RGD:11341694 NCBI chr 1:97,190,381...97,203,076
Ensembl chr 1:95,918,502...95,931,050 		JBrowse link
G FH fumarate hydratase ISO ClinVar Annotator: match by term: B Lymphoblastic Leukemia/Lymphoma, Not Otherwise Specified ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:217,059,847...217,081,795
Ensembl chr 1:222,041,142...222,064,212 		JBrowse link
G FLT3 fms related receptor tyrosine kinase 3 ISO mRNA,protein:increased expression:bone marrow: RGD PMID:8562934 RGD:11049466 NCBI chr13:9,283,747...9,381,553
Ensembl chr13:27,627,178...27,723,940 		JBrowse link
G GATA3 GATA binding protein 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24141364 NCBI chr10:8,075,951...8,105,573
Ensembl chr10:8,064,207...8,086,272 		JBrowse link
G IDO1 indoleamine 2,3-dioxygenase 1 ISO CTD Direct Evidence: marker/mechanism