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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:lymphopenia
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Accession:DOID:614 term browser browse the term
Definition:A leukopenia that is the condition of having an abnormally low level of lymphocytes in the blood. (DO)
Synonyms:exact_synonym: lymphocytopenia;   lymphocytopenias;   lymphopenias
 primary_id: MESH:D008231
 xref: ICD10CM:D72.810;   ICD9CM:288.51;   MONDO:0003783
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
lymphopenia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ada adenosine deaminase ISO RGD PMID:9478961 RGD:1300251 NCBI chr 3:172,818,174...172,842,283
Ensembl chr 3:172,818,176...172,842,293 		JBrowse link
G Atg5 autophagy related 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26568842 NCBI chr20:49,380,835...49,471,826
Ensembl chr20:49,380,813...49,471,821 		JBrowse link
G Atg7 autophagy related 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26568842 NCBI chr 4:149,390,000...149,597,534
Ensembl chr 4:149,391,390...149,598,319 		JBrowse link
G Atp6ap1 ATPase H+ transporting accessory protein 1 ISO ClinVar Annotator: match by term: Lymphopenia ClinVar PMID:25741868 PMID:28492532 NCBI chr  X:157,231,243...157,238,323
Ensembl chr  X:157,225,327...157,238,323 		JBrowse link
G C1h16orf92 similar to human chromosome 16 open reading frame 92 ISO ClinVar Annotator: match by term: Lymphopenia ClinVar NCBI chr 1:190,870,546...190,871,557 JBrowse link
G Cbl Cbl proto-oncogene onset ISO RGD PMID:20404156 RGD:11038797 NCBI chr 8:53,384,656...53,468,067
Ensembl chr 8:53,384,656...53,468,067 		JBrowse link
G Ccl28 C-C motif chemokine ligand 28 IEP protein:decreased expression:small intestine villus (rat) RGD PMID:19393265 RGD:4892224 NCBI chr 2:53,334,071...53,358,709
Ensembl chr 2:53,334,071...53,358,709 		JBrowse link
G Ccnq cyclin Q ISO ClinVar Annotator: match by term: Lymphopenia ClinVar PMID:25741868 PMID:28492532 NCBI chr10:64,144,560...64,145,723
Ensembl chr10:64,144,555...64,145,911 		JBrowse link
G Cd28 Cd28 molecule IMP RGD PMID:12750179 RGD:2307205 NCBI chr 9:69,660,316...69,689,192
Ensembl chr 9:69,545,326...69,689,192 		JBrowse link
G Cfb complement factor B ISO ClinVar Annotator: match by term: Lymphopenia ClinVar NCBI chr20:3,975,271...3,981,138
Ensembl chr20:3,955,776...3,981,740 		JBrowse link
G Chd1l chromodomain helicase DNA binding protein 1-like ISO ClinVar Annotator: match by term: Lymphopenia ClinVar NCBI chr 2:187,819,869...187,906,359
Ensembl chr 2:187,811,954...187,890,477 		JBrowse link
G Crp C-reactive protein ISO associated with Lupus Erythematosus, Systemic;DNA:SNP RGD PMID:17596285 RGD:5508454 NCBI chr13:87,694,062...87,695,978
Ensembl chr13:87,657,317...87,707,514 		JBrowse link
G Csf1r colony stimulating factor 1 receptor IMP RGD PMID:30249809 RGD:41404725 NCBI chr18:56,834,152...56,860,804
Ensembl chr18:56,817,049...56,860,806 		JBrowse link
G Csf1rtm(EGFP)Tset colony stimulating factor 1 receptor; target mutant, Tset IMP RGD PMID:30249809 RGD:41404725
G Dkc1 dyskerin pseudouridine synthase 1 ISO RGD PMID:12522253 RGD:11251731 NCBI chr  X:157,751,651...157,757,796
Ensembl chr  Y:380,743...385,405
Ensembl chr  X:380,743...385,405 		JBrowse link
G Ednrb endothelin receptor type B IAGP RGD PMID:22975636 RGD:7207471 NCBI chr15:87,055,490...87,086,765
Ensembl chr15:87,057,691...87,086,765 		JBrowse link
G Ednrbsl endothelin receptor type B, spotting lethal IAGP RGD PMID:22975636 RGD:7207471
G Ephx1 epoxide hydrolase 1 ISO ClinVar Annotator: match by term: Lymphopenia ClinVar NCBI chr13:95,246,079...95,275,852
Ensembl chr13:95,246,080...95,321,981 		JBrowse link
G Fcgr2a Fc gamma receptor 2A susceptibility ISO associated with Lupus Erythematosus, Systemic;DNA:SNP:cds:p.R131H (human) RGD PMID:17596285 RGD:5508454 NCBI chr13:85,813,516...85,830,269
Ensembl chr13:85,855,437...85,864,394
Ensembl chr13:85,855,437...85,864,394 		JBrowse link
G Fcgr3a Fc gamma receptor 3A susceptibility ISO associated with Lupus Erythematosus, Systemic;DNA:SNP:cds:p.V158F (human) RGD PMID:17596285 RGD:5508454 NCBI chr13:85,782,636...85,792,656
Ensembl chr13:85,782,490...85,792,651 		JBrowse link
G Gimap5 GTPase, IMAP family member 5 IAGP DNA:frameshift deletion RGD PMID:12097339 RGD:619544 NCBI chr 4:79,025,151...79,031,917
Ensembl chr 4:79,024,304...79,039,030 		JBrowse link
G Hoxd13 homeo box D13 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27725143 NCBI chr 3:79,978,077...79,981,393
Ensembl chr 3:79,978,076...79,981,393 		JBrowse link
G Il1b interleukin 1 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:1884014 NCBI chr 3:137,030,200...137,036,581
Ensembl chr 3:137,030,205...137,036,601 		JBrowse link
G Il2ra interleukin 2 receptor subunit alpha ISO IL2RA/CD25 Deficiency, OMIM:606367 RGD PMID:9096364 RGD:1600117 NCBI chr17:71,759,802...71,808,475
Ensembl chr17:71,759,802...71,808,507 		JBrowse link
G Il7 interleukin 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17151827 NCBI chr 2:96,142,523...96,186,282
Ensembl chr 2:96,142,092...96,187,389 		JBrowse link
G Kif11 kinesin family member 11 ISO ClinVar Annotator: match by term: Lymphopenia ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:244,494,916...244,589,250
Ensembl chr 1:244,494,875...244,589,250 		JBrowse link
G Lbr lamin B receptor ISO DNA:point mutation RGD PMID:22105998 RGD:11062006 NCBI chr13:96,071,058...96,095,709
Ensembl chr13:96,071,081...96,095,709 		JBrowse link
G Lims2 LIM zinc finger domain containing 2 ISO ClinVar Annotator: match by term: Lymphopenia ClinVar NCBI chr18:23,828,164...23,866,363
Ensembl chr18:23,837,686...23,867,086 		JBrowse link
G Muc16 mucin 16, cell surface associated ISO ClinVar Annotator: match by term: Lymphopenia ClinVar PMID:25741868 NCBI chr 8:24,440,840...24,644,494 JBrowse link
G Mysm1 myb-like, SWIRM and MPN domains 1 ISO RGD PMID:22184403 RGD:9589161 NCBI chr 5:114,877,112...114,981,463
Ensembl chr 5:114,889,269...114,942,385 		JBrowse link
G Nup98 nucleoporin 98 and 96 precursor ISO CTD Direct Evidence: marker/mechanism CTD PMID:27725143 NCBI chr 1:165,906,405...166,003,366
Ensembl chr 1:165,906,405...166,003,366 		JBrowse link
G Pkp3 plakophilin 3 ISO ClinVar Annotator: match by term: Lymphopenia ClinVar NCBI chr 1:205,617,511...205,628,441
Ensembl chr 1:205,617,511...205,628,440 		JBrowse link
G Polr3c RNA polymerase III subunit C ISO ClinVar Annotator: match by term: Lymphopenia ClinVar PMID:25741868 NCBI chr 2:186,935,038...186,950,962
Ensembl chr 2:186,935,038...186,950,962 		JBrowse link
G Slc34a1 solute carrier family 34 member 1 ISO ClinVar Annotator: match by term: Lymphopenia ClinVar PMID:25741868 PMID:28492532 NCBI chr17:9,224,010...9,238,983
Ensembl chr17:9,224,010...9,238,983 		JBrowse link
G Tle2 TLE family member 2, transcriptional corepressor ISO ClinVar Annotator: match by term: Lymphopenia ClinVar PMID:25741868 NCBI chr 7:8,769,815...8,789,493
Ensembl chr 7:8,769,816...8,785,256 		JBrowse link
G Tmem63a transmembrane protein 63a ISO ClinVar Annotator: match by term: Lymphopenia ClinVar NCBI chr13:95,194,323...95,227,944
Ensembl chr13:95,195,234...95,228,302 		JBrowse link
G Tnf tumor necrosis factor ISO associated with HIV Infections;protein:increased expression:serum RGD PMID:2324681 RGD:10450888 NCBI chr20:3,626,685...3,629,303
Ensembl chr20:3,626,532...3,629,303 		JBrowse link
G Usp3 ubiquitin specific peptidase 3 ISO ClinVar Annotator: match by term: Lymphopenia ClinVar NCBI chr 8:75,973,278...76,049,151
Ensembl chr 8:75,974,615...76,049,153 		JBrowse link
G Vav1 vav guanine nucleotide exchange factor 1 IEP mRNA, protein:increased expression:thymus RGD PMID:10433093 RGD:2306005 NCBI chr 9:2,248,856...2,295,905
Ensembl chr 9:2,248,914...2,296,922 		JBrowse link
G Zc3h3 zinc finger CCCH type containing 3 ISO ClinVar Annotator: match by term: Lymphopenia ClinVar PMID:25741868 NCBI chr 7:109,321,423...109,406,241
Ensembl chr 7:109,321,423...109,406,172 		JBrowse link
Alpha/Beta T-Cell Lymphopenia with Gamma/Delta T-Cell Expansion, Severe Cytomegalovirus Infection, and Autoimmunity term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rag1 recombination activating 1 ISO CTD Direct Evidence: marker/mechanism OMIM
CTD		 NCBI chr 3:108,372,087...108,383,184
Ensembl chr 3:108,371,978...108,383,261 		JBrowse link
idiopathic CD4-positive T-lymphocytopenia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Unc119 unc-119 lipid binding chaperone ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: IDIOPATHIC CD4 LYMPHOPENIA 		CTD
ClinVar		 PMID:22184408 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr10:63,735,927...63,741,404
Ensembl chr10:63,735,777...63,741,404 		JBrowse link
T-CELL LYMPHOPENIA, INFANTILE, WITH OR WITHOUT NAIL DYSTROPHY, AUTOSOMAL DOMINANT term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Foxn1 forkhead box N1 ISO ClinVar Annotator: match by term: T-cell lymphopenia, infantile, with or without nail dystrophy, autosomal dominant OMIM
ClinVar		 PMID:8911612 PMID:10206641 PMID:15180707 PMID:15897400 PMID:18339010 More... NCBI chr10:63,749,461...63,778,468
Ensembl chr10:63,749,461...63,771,771 		JBrowse link
T-Lymphocytopenia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Stat5b signal transducer and activator of transcription 5B ISO CTD Direct Evidence: marker/mechanism CTD PMID:17030597 NCBI chr10:86,205,148...86,276,178
Ensembl chr10:86,207,293...86,275,990 		JBrowse link
G Themis thymocyte selection associated IAGP DNA:frameshift mutation: RGD PMID:22275874 RGD:38599149 NCBI chr 1:18,251,136...18,483,851
Ensembl chr 1:18,272,056...18,483,502 		JBrowse link
G Themism1Adej thymocyte selection associated; mutant1, Adej IAGP RGD PMID:22275874 RGD:38599149
Wiskott-Aldrich syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Akap4 A-kinase anchoring protein 4 ISO ClinVar Annotator: match by term: WISKOTT-ALDRICH SYNDROME 1 ClinVar PMID:28492532 NCBI chr  X:18,107,256...18,117,549
Ensembl chr  X:18,107,275...18,117,549 		JBrowse link
G Bmp15 bone morphogenetic protein 15 ISO ClinVar Annotator: match by term: WISKOTT-ALDRICH SYNDROME 1 ClinVar PMID:28492532 NCBI chr  X:18,840,943...18,846,006
Ensembl chr  X:18,840,829...18,847,438 		JBrowse link
G Cacna1f calcium voltage-gated channel subunit alpha1 F ISO ClinVar Annotator: match by term: WISKOTT-ALDRICH SYNDROME 1 ClinVar PMID:28492532 NCBI chr  X:17,539,992...17,568,308
Ensembl chr  X:17,539,920...17,568,308 		JBrowse link
G Ccdc120 coiled-coil domain containing 120 ISO ClinVar Annotator: match by term: WISKOTT-ALDRICH SYNDROME 1 ClinVar PMID:28492532 NCBI chr  X:17,437,219...17,443,716
Ensembl chr  X:17,425,624...17,444,717 		JBrowse link
G Ccdc22 coiled-coil domain containing 22 ISO ClinVar Annotator: match by term: WISKOTT-ALDRICH SYNDROME 1 ClinVar PMID:28492532 NCBI chr  X:17,570,184...17,582,130
Ensembl chr  X:17,535,659...17,582,130 		JBrowse link
G Ccnb3 cyclin B3 ISO ClinVar Annotator: match by term: WISKOTT-ALDRICH SYNDROME 1 ClinVar PMID:28492532 NCBI chr  X:18,149,915...18,214,801
Ensembl chr  X:18,149,915...18,214,801 		JBrowse link
G Clcn5 chloride voltage-gated channel 5 ISO ClinVar Annotator: match by term: WISKOTT-ALDRICH SYNDROME 1 ClinVar PMID:28492532 NCBI chr  X:17,857,260...18,011,844
Ensembl chr  X:17,857,260...18,011,844 		JBrowse link
G Dgkk diacylglycerol kinase kappa ISO ClinVar Annotator: match by term: WISKOTT-ALDRICH SYNDROME 1 ClinVar PMID:28492532 NCBI chr  X:18,253,849...18,385,805
Ensembl chr  X:18,256,463...18,385,640 		JBrowse link
G Ebp EBP, cholestenol delta-isomerase ISO ClinVar Annotator: match by term: WISKOTT-ALDRICH SYNDROME 1 ClinVar PMID:28492532 NCBI chr  X:16,971,372...16,977,782
Ensembl chr  X:16,971,405...16,977,781 		JBrowse link
G Eras ES cell expressed Ras ISO ClinVar Annotator: match by term: WISKOTT-ALDRICH SYNDROME 1 ClinVar PMID:28492532 NCBI chr  X:17,245,915...17,250,301
Ensembl chr  X:17,245,789...17,250,293 		JBrowse link
G Foxp3 forkhead box P3 ISS
ISO 		OMIM:301000 | OMIM:614493
ClinVar Annotator: match by term: WISKOTT-ALDRICH SYNDROME 1 		MouseDO
ClinVar		 PMID:28492532 NCBI chr  X:17,580,380...17,601,181
Ensembl chr  X:17,580,380...17,595,894 		JBrowse link
G Gata1 GATA binding protein 1 ISO ClinVar Annotator: match by term: WISKOTT-ALDRICH SYNDROME 1 ClinVar PMID:28492532 NCBI chr  X:17,193,291...17,209,462
Ensembl chr  X:17,201,633...17,209,459 		JBrowse link
G Glod5 glyoxalase domain containing 5 ISO ClinVar Annotator: match by term: WISKOTT-ALDRICH SYNDROME 1 ClinVar PMID:28492532 NCBI chr  X:17,145,936...17,160,733
Ensembl chr  X:17,145,938...17,160,619 		JBrowse link
G Gpkow G patch domain and KOW motifs ISO ClinVar Annotator: match by term: WISKOTT-ALDRICH SYNDROME 1 ClinVar PMID:28492532 NCBI chr  X:17,463,521...17,478,298
Ensembl chr  X:17,463,525...17,478,298 		JBrowse link
G Gripap1 GRIP1 associated protein 1 ISO ClinVar Annotator: match by term: WISKOTT-ALDRICH SYNDROME 1 ClinVar PMID:28492532 NCBI chr  X:17,350,817...17,380,626
Ensembl chr  X:17,350,819...17,380,588 		JBrowse link
G Hdac6 histone deacetylase 6 ISO ClinVar Annotator: match by term: WISKOTT-ALDRICH SYNDROME 1 ClinVar PMID:28492532 NCBI chr  X:17,222,538...17,244,373
Ensembl chr  X:17,222,856...17,244,370 		JBrowse link
G Kcnd1 potassium voltage-gated channel subfamily D member 1 ISO ClinVar Annotator: match by term: WISKOTT-ALDRICH SYNDROME 1 ClinVar PMID:28492532 NCBI chr  X:17,333,612...17,349,255
Ensembl chr  X:17,333,612...17,347,799 		JBrowse link
G Magix MAGI family member, X-linked ISO ClinVar Annotator: match by term: WISKOTT-ALDRICH SYNDROME 1 ClinVar PMID:28492532 NCBI chr  X:17,496,092...17,504,370
Ensembl chr  X:17,496,225...17,504,369 		JBrowse link
G Mir500 microRNA 500 ISO ClinVar Annotator: match by term: WISKOTT-ALDRICH SYNDROME 1 ClinVar PMID:28492532 NCBI chr  X:17,930,647...17,930,726
Ensembl chr  X:17,930,637...17,930,728 		JBrowse link
G Mir532 microRNA 532 ISO ClinVar Annotator: match by term: WISKOTT-ALDRICH SYNDROME 1 ClinVar PMID:28492532 NCBI chr  X:17,919,185...17,919,263
Ensembl chr  X:17,919,185...17,919,263 		JBrowse link
G Nudt11 nudix hydrolase 11 ISO ClinVar Annotator: match by term: WISKOTT-ALDRICH SYNDROME 1 ClinVar PMID:28492532 NCBI chr  X:18,998,587...19,005,208
Ensembl chr  X:18,998,461...19,005,208 		JBrowse link
G Otud5 OTU deubiquitinase 5 ISO ClinVar Annotator: match by term: WISKOTT-ALDRICH SYNDROME 1 ClinVar PMID:28492532 NCBI chr  X:17,296,750...17,331,257
Ensembl chr  X:17,298,029...17,331,054 		JBrowse link
G Pcsk1n proprotein convertase subtilisin/kexin type 1 inhibitor ISO ClinVar Annotator: match by term: WISKOTT-ALDRICH SYNDROME 1 ClinVar PMID:28492532 NCBI chr  X:17,251,963...17,255,405
Ensembl chr  X:17,251,965...17,257,360 		JBrowse link
G Pim2 Pim-2 proto-oncogene, serine/threonine kinase ISO ClinVar Annotator: match by term: WISKOTT-ALDRICH SYNDROME 1 ClinVar PMID:28492532 NCBI chr  X:17,289,509...17,294,778
Ensembl chr  X:17,289,509...17,294,778 		JBrowse link
G Plp2 proteolipid protein 2 ISO ClinVar Annotator: match by term: WISKOTT-ALDRICH SYNDROME 1 ClinVar PMID:28492532 NCBI chr  X:17,506,153...17,509,552
Ensembl chr  X:17,506,059...17,509,550 		JBrowse link
G Porcn porcupine O-acyltransferase ISO ClinVar Annotator: match by term: WISKOTT-ALDRICH SYNDROME 1 ClinVar PMID:28492532 NCBI chr  X:16,957,811...16,970,440
Ensembl chr  X:16,957,810...16,970,439 		JBrowse link
G Ppp1r3f protein phosphatase 1, regulatory subunit 3F ISO ClinVar Annotator: match by term: WISKOTT-ALDRICH SYNDROME 1 ClinVar PMID:28492532 NCBI chr  X:17,581,467...17,617,087
Ensembl chr  X:17,601,239...17,617,102 		JBrowse link
G Pqbp1 polyglutamine binding protein 1 ISO ClinVar Annotator: match by term: WISKOTT-ALDRICH SYNDROME 1 ClinVar PMID:28492532 NCBI chr  X:17,275,445...17,280,018
Ensembl chr  X:17,275,759...17,280,016 		JBrowse link
G Praf2 PRA1 domain family, member 2 ISO ClinVar Annotator: match by term: WISKOTT-ALDRICH SYNDROME 1 ClinVar PMID:28492532 NCBI chr  X:17,445,313...17,447,950
Ensembl chr  X:17,445,313...17,447,950 		JBrowse link
G Prickle3 prickle planar cell polarity protein 3 ISO ClinVar Annotator: match by term: WISKOTT-ALDRICH SYNDROME 1 ClinVar PMID:28492532 NCBI chr  X:17,509,551...17,520,157
Ensembl chr  X:17,509,554...17,520,122 		JBrowse link
G Rbm3 RNA binding motif protein 3 ISO ClinVar Annotator: match by term: WISKOTT-ALDRICH SYNDROME 1 ClinVar PMID:28492532 NCBI chr  X:17,020,863...17,024,341
Ensembl chr  X:17,020,864...17,024,841 		JBrowse link
G Shroom4 shroom family member 4 ISO ClinVar Annotator: match by term: WISKOTT-ALDRICH SYNDROME 1 ClinVar PMID:28492532 NCBI chr  X:18,537,371...18,748,665
Ensembl chr  X:18,540,913...18,748,700 		JBrowse link
G Slc35a2 solute carrier family 35 member A2 ISO ClinVar Annotator: match by term: WISKOTT-ALDRICH SYNDROME 1 ClinVar PMID:28492532 NCBI chr  X:17,280,072...17,288,928
Ensembl chr  X:17,280,074...17,288,613 		JBrowse link
G Suv39h1 SUV39H1 histone lysine methyltransferase ISO ClinVar Annotator: match by term: WISKOTT-ALDRICH SYNDROME 1 ClinVar PMID:28492532 NCBI chr  X:17,093,059...17,105,942
Ensembl chr  X:17,092,986...17,105,942 		JBrowse link
G Suv39h1-ps1 SUV39H1 histone lysine methyltransferase, pseudogene 1 ISO ClinVar Annotator: match by term: WISKOTT-ALDRICH SYNDROME 1 ClinVar PMID:28492532 NCBI chr  X:146,828,818...146,831,485 JBrowse link
G Syp synaptophysin ISO ClinVar Annotator: match by term: WISKOTT-ALDRICH SYNDROME 1 ClinVar PMID:28492532 NCBI chr  X:17,521,348...17,536,449
Ensembl chr  X:17,521,348...17,536,984 		JBrowse link
G Tbc1d25 TBC1 domain family, member 25 ISO ClinVar Annotator: match by term: WISKOTT-ALDRICH SYNDROME 1 ClinVar PMID:28492532 NCBI chr  X:16,986,629...17,010,228
Ensembl chr  X:16,986,269...17,010,230 		JBrowse link
G Tfe3 transcription factor binding to IGHM enhancer 3 ISO ClinVar Annotator: match by term: WISKOTT-ALDRICH SYNDROME 1 ClinVar PMID:28492532 NCBI chr  X:17,401,466...17,414,829
Ensembl chr  X:17,401,466...17,414,685 		JBrowse link
G Timm17b translocase of inner mitochondrial membrane 17b ISO ClinVar Annotator: match by term: WISKOTT-ALDRICH SYNDROME 1 ClinVar PMID:28492532 NCBI chr  X:17,268,257...17,275,424
Ensembl chr  X:17,268,257...17,275,563 		JBrowse link
G Usp27x ubiquitin specific peptidase 27, X-linked ISO ClinVar Annotator: match by term: WISKOTT-ALDRICH SYNDROME 1 ClinVar PMID:28492532 NCBI chr  X:17,795,506...17,798,741
Ensembl chr  X:17,794,884...17,798,879 		JBrowse link
G Was WASP actin nucleation promoting factor ISO
ISS 		CTD Direct Evidence: marker/mechanism
OMIM:301000
ClinVar Annotator: match by term: WISKOTT-ALDRICH SYNDROME 1 | ClinVar Annotator: match by term: WISKOTT-ALDRICH SYNDROME, ATTENUATED | ClinVar Annotator: match by term: Wiskott-Aldrich syndrome 		OMIM
CTD
MouseDO
ClinVar
RGD		 PMID:2906042 PMID:3284030 PMID:7579329 PMID:7579347 PMID:7735919 More... RGD:1599803 NCBI chr  X:17,077,057...17,085,802
Ensembl chr  X:17,073,314...17,085,802 		JBrowse link
G Washc4 WASH complex subunit 4 ISS OMIM:301000 MouseDO NCBI chr 7:22,075,546...22,127,847
Ensembl chr 7:22,050,098...22,127,828 		JBrowse link
G Wdr13 WD repeat domain 13 ISO ClinVar Annotator: match by term: WISKOTT-ALDRICH SYNDROME 1 ClinVar PMID:28492532 NCBI chr  X:17,034,779...17,045,682
Ensembl chr  X:17,034,504...17,045,679 		JBrowse link
G Wdr45 WD repeat domain 45 ISO ClinVar Annotator: match by term: WISKOTT-ALDRICH SYNDROME 1 ClinVar PMID:28492532 NCBI chr  X:17,448,195...17,454,117
Ensembl chr  X:17,448,207...17,454,117 		JBrowse link
G Wipf1 WAS/WASL interacting protein family, member 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 3:78,721,486...78,824,199
Ensembl chr 3:78,714,299...78,780,277 		JBrowse link
G Wrn WRN RecQ like helicase ISO ClinVar Annotator: match by term: Wiskott-Aldrich syndrome ClinVar PMID:10069711 PMID:10220139 PMID:16786514 PMID:18414213 PMID:19824023 More... NCBI chr16:65,466,552...65,602,951
Ensembl chr16:65,456,254...65,602,951 		JBrowse link
Wiskott-Aldrich Syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chrna1 cholinergic receptor nicotinic alpha 1 subunit ISO ClinVar Annotator: match by term: Wiskott-Aldrich syndrome 2 ClinVar PMID:28492532 NCBI chr 3:78,862,286...78,877,353
Ensembl chr 3:78,862,286...78,877,353 		JBrowse link
G Wipf1 WAS/WASL interacting protein family, member 1 ISO ClinVar Annotator: match by term: Wiskott-Aldrich syndrome 2 OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:22231303 PMID:24033266 PMID:25741868 More... NCBI chr 3:78,721,486...78,824,199
Ensembl chr 3:78,714,299...78,780,277 		JBrowse link
X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp7a ATPase copper transporting alpha ISO ClinVar Annotator: match by term: X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia ClinVar PMID:24550228 PMID:28492532 NCBI chr  X:75,159,635...75,267,094
Ensembl chr  X:75,159,782...75,267,093 		JBrowse link
G Atrx ATRX, chromatin remodeler ISO ClinVar Annotator: match by term: X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia ClinVar PMID:28492532 NCBI chr  X:74,916,548...75,062,880
Ensembl chr  X:74,916,548...75,062,880 		JBrowse link
G Cox7b cytochrome c oxidase subunit 7B ISO ClinVar Annotator: match by term: X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia ClinVar PMID:24550228 PMID:28492532 NCBI chr  X:75,149,036...75,155,285
Ensembl chr  X:75,148,996...75,155,284 		JBrowse link
G Magt1 magnesium transporter 1 ISO ClinVar Annotator: match by term: X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:21796205 PMID:24550228 More... NCBI chr  X:75,104,040...75,145,247
Ensembl chr  X:75,106,172...75,145,365 		JBrowse link
G Pgk1 phosphoglycerate kinase 1 ISO ClinVar Annotator: match by term: X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia ClinVar PMID:28492532 NCBI chr  X:75,336,988...75,352,962
Ensembl chr  X:75,336,687...75,352,959 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19167
    syndrome 11431
      primary immunodeficiency disease 4502
        lymphopenia 120
          T-Lymphocytopenia + 8
          Wiskott-Aldrich syndrome + 47
          X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia 5
Path 2
Term Annotations click to browse term
  disease 19167
    disease of anatomical entity 18473
      Hemic and Lymphatic Diseases 4332
        hematopoietic system disease 3839
          leukocyte disease 1345
            leukopenia 563
              lymphopenia 120
                T-Lymphocytopenia + 8
                Wiskott-Aldrich syndrome + 47
                X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia 5
paths to the root