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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:autoimmune lymphoproliferative syndrome
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Accession:DOID:6688 term browser browse the term
Definition:Rare congenital lymphoid disorder due to mutations in certain Fas-Fas ligand pathway genes. Known causes include mutations in FAS, TNFSF6, NRAS, CASP8, and CASP10 proteins. Clinical features include LYMPHADENOPATHY; SPLENOMEGALY; and AUTOIMMUNITY.
Synonyms:exact_synonym: ALPS;   Autoimmune Lymphoproliferative Syndrome Type 1, Autosomal Dominant;   Autoimmune Lymphoproliferative Syndrome, Type I, Autosomal Dominant;   Autoimmune Lymphoproliferative Syndromes;   Canale Smith syndromes;   Canale-Smith syndrome
 narrow_synonym: ALPS1A;   ALPS1B;   AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA;   AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL RECESSIVE;   AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB
 primary_id: MESH:D056735
 alt_id: OMIM:601859;   RDO:0001333
 xref: GARD:8686;   ICD10CM:D89.82;   ICD9CM:279.41;   NCI:C37864;   ORDO:3261
For additional species annotation, visit the Alliance of Genome Resources.



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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:22237435 PMID:28492532 NCBI chr 1:231,746,527...231,759,307
Ensembl chr 1:231,746,548...231,759,554
JBrowse link
G Ankrd22 ankyrin repeat domain 22 ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 1, autosomal dominant ClinVar PMID:28492532 NCBI chr 1:231,639,035...231,670,537
Ensembl chr 1:231,639,314...231,670,381
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 Ensembl chr13:73,424,480...73,450,466 JBrowse link
G Casp8 caspase 8 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 9:60,263,863...60,312,542
Ensembl chr 9:60,264,075...60,312,542
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 chr13:73,337,235...73,352,115
Ensembl chr13:73,337,257...73,352,114
JBrowse link
G Ch25h cholesterol 25-hydroxylase ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 1, autosomal dominant ClinVar PMID:28492532 NCBI chr 1:232,014,877...232,016,195
Ensembl chr 1:232,014,880...232,016,195
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 chr13:73,308,726...73,336,558
Ensembl chr13:73,308,726...73,336,934
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 chr13:74,359,043...74,838,135
Ensembl chr13:74,359,213...74,838,108
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
DNA:mutations:cds:555C>T,889A>G(human)
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
RGD
PMID:2149015 PMID:4852259 PMID:7540117 PMID:9028321 PMID:9533447 More... RGD:12904015, RGD:12903983, RGD:12903956 NCBI chr 1:231,798,963...231,832,591
Ensembl chr 1:231,798,960...231,832,591
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 OMIM
ClinVar
PMID:8787672 PMID:16627752 PMID:17605793 PMID:22857792 PMID:25451160 More... NCBI chr13:74,151,519...74,172,760
Ensembl chr13:74,154,954...74,162,215
JBrowse link
G Gas5 growth arrest specific 5 ISO ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT ClinVar PMID:22857792 PMID:25451160 PMID:28492532 NCBI chr13:73,303,611...73,306,932 JBrowse link
G Ifit2 interferon-induced protein with tetratricopeptide repeats 2 ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 1, autosomal dominant ClinVar PMID:28492532 NCBI chr 1:232,102,570...232,108,638
Ensembl chr 1:232,102,570...232,108,635
JBrowse link
G Ifit3 interferon-induced protein with tetratricopeptide repeats 3 ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 1, autosomal dominant ClinVar PMID:28492532 NCBI chr 1:232,114,166...232,119,311
Ensembl chr 1:232,114,166...232,119,307
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 chr13:73,363,451...73,408,346
Ensembl chr13:73,363,455...73,408,337
JBrowse link
G Lipa lipase A, lysosomal acid type ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 1, autosomal dominant ClinVar PMID:28492532 NCBI chr 1:232,024,351...232,167,329
Ensembl chr 1:232,024,356...232,057,633
JBrowse link
G Lipm lipase, family member M ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 1, autosomal dominant ClinVar PMID:28492532 NCBI chr 1:231,618,145...231,637,599
Ensembl chr 1:231,618,284...231,637,410
JBrowse link
G Lipn lipase, family member N ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 1, autosomal dominant ClinVar PMID:28492532 NCBI chr 1:231,586,197...231,602,370
Ensembl chr 1:231,584,956...231,603,468
JBrowse link
G Mettl13 methyltransferase 13, eEF1A lysine and N-terminal methyltransferase ISO ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT ClinVar PMID:22857792 PMID:25451160 PMID:28492532 NCBI chr13:74,886,151...74,899,937
Ensembl chr13:74,886,155...74,899,870
JBrowse link
G Mir199a2 microRNA 199a-2 ISO ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT ClinVar PMID:22857792 PMID:25451160 PMID:28492532 NCBI chr13:74,582,954...74,583,063
Ensembl chr13:74,582,954...74,583,063
JBrowse link
G Mir214 microRNA 214 ISO ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT ClinVar PMID:22857792 PMID:25451160 PMID:28492532 NCBI chr13:74,588,374...74,588,481
Ensembl chr13:74,588,372...74,588,481
JBrowse link
G Mir3120 microRNA 3120 ISO ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT ClinVar PMID:22857792 PMID:25451160 PMID:28492532 NCBI chr13:74,588,376...74,588,492
Ensembl chr13:74,588,372...74,588,481
JBrowse link
G Mmp9 matrix metallopeptidase 9 disease_progression ISO RGD PMID:21376533 RGD:13204846 NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120
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 chr13:74,976,730...74,987,128
Ensembl chr13:74,976,730...74,987,127
JBrowse link
G Nras NRAS proto-oncogene, GTPase ISO CTD Direct Evidence: marker/mechanism CTD PMID:17517660 NCBI chr 2:190,582,885...190,593,509
Ensembl chr 2:190,582,918...190,591,626
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 chr13:74,343,619...74,346,148
Ensembl chr13:74,296,854...74,346,211
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 chr13:73,528,746...73,539,295
Ensembl chr13:73,528,210...73,539,355
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 chr13:73,174,075...73,245,762
Ensembl chr13:73,173,946...73,238,839
JBrowse link
G RGD1309106 similar to hypothetical protein ISO ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT ClinVar PMID:22857792 PMID:25451160 PMID:28492532 NCBI chr13:74,313,320...74,356,322
Ensembl chr13:74,313,322...74,356,322
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 chr13:73,257,208...73,271,476
Ensembl chr13:73,257,179...73,284,293
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 chr13:73,424,681...73,524,244
Ensembl chr13:73,451,115...73,524,239
Ensembl chr13:73,451,115...73,524,239
JBrowse link
G Stambpl1 STAM binding protein-like 1 ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 1, autosomal dominant ClinVar PMID:28492532 NCBI chr 1:231,699,620...231,745,034
Ensembl chr 1:231,699,995...231,745,032
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 chr13:74,192,808...74,257,896
Ensembl chr13:74,193,573...74,257,896
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 NCBI chr13:73,833,478...73,907,249
Ensembl chr13:73,831,252...73,843,169
JBrowse link
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 chr13:73,723,329...73,746,809
Ensembl chr13:73,723,329...73,746,788
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 chr13:74,919,872...74,942,791
Ensembl chr13:74,919,880...74,933,686
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 chr13:73,271,920...73,303,427
Ensembl chr13:73,280,544...73,337,124
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:12353035 PMID:25814141 PMID:28492532 NCBI chr 9:61,856,379...61,904,029
Ensembl chr 9:61,827,139...61,905,699
JBrowse link
G Als2 alsin Rho guanine nucleotide exchange factor ALS2 ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 2B ClinVar PMID:12353035 PMID:25814141 PMID:28492532 NCBI chr 9:60,613,182...60,686,394
Ensembl chr 9:60,613,167...60,670,737
JBrowse link
G Bmpr2 bone morphogenetic protein receptor type 2 ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 2B ClinVar PMID:12353035 PMID:25814141 PMID:28492532 NCBI chr 9:61,192,718...61,307,280
Ensembl chr 9:61,190,566...61,301,809
JBrowse link
G C2cd6 C2 calcium dependent domain containing 6 ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 2B ClinVar PMID:12353035 PMID:25814141 PMID:28492532 NCBI chr 9:60,434,926...60,530,843
Ensembl chr 9:60,434,925...60,530,806
JBrowse link
G Carf calcium responsive transcription factor ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 2B ClinVar PMID:12353035 PMID:25814141 PMID:28492532 NCBI chr 9:61,502,368...61,552,433
Ensembl chr 9:61,506,956...61,550,462
JBrowse link
G Casp8 caspase 8 ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 2B OMIM
ClinVar
PMID:9536098 PMID:12353035 PMID:15601643 PMID:15998955 PMID:16199547 More... NCBI chr 9:60,263,863...60,312,542
Ensembl chr 9:60,264,075...60,312,542
JBrowse link
G Cd28 Cd28 molecule ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 2B ClinVar PMID:12353035 PMID:25814141 PMID:28492532 NCBI chr 9:62,166,324...62,194,674
Ensembl chr 9:62,166,192...62,194,685
JBrowse link
G Cdk15 cyclin-dependent kinase 15 ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 2B ClinVar PMID:12353035 PMID:25814141 PMID:28492532 NCBI chr 9:60,710,787...60,803,638
Ensembl chr 9:60,711,715...60,802,777
JBrowse link
G Cflar CASP8 and FADD-like apoptosis regulator ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 2B ClinVar PMID:12353035 PMID:25814141 PMID:28492532 NCBI chr 9:60,185,338...60,236,173
Ensembl chr 9:60,185,452...60,237,034
JBrowse link
G Ctla4 cytotoxic T-lymphocyte-associated protein 4 ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 2B ClinVar PMID:12353035 PMID:25814141 PMID:28492532 NCBI chr 9:62,318,874...62,325,978
Ensembl chr 9:62,319,312...62,324,963
JBrowse link
G Cyp20a1 cytochrome P450, family 20, subfamily a, polypeptide 1 ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 2B ClinVar PMID:12353035 PMID:25814141 PMID:28492532 NCBI chr 9:61,755,804...61,805,123
Ensembl chr 9:61,755,790...61,805,123
JBrowse link
G Fam117b family with sequence similarity 117, member B ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 2B ClinVar PMID:12353035 PMID:25814141 PMID:28492532 NCBI chr 9:61,340,291...61,418,531
Ensembl chr 9:61,340,249...61,408,483
JBrowse link
G Flacc1 flagellum associated containing coiled-coil domains 1 ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 2B ClinVar PMID:12353035 PMID:25814141 PMID:28492532 NCBI chr 9:60,315,581...60,343,692
Ensembl chr 9:60,315,582...60,343,648
JBrowse link
G Fzd7 frizzled class receptor 7 ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 2B ClinVar PMID:12353035 PMID:25814141 PMID:28492532 NCBI chr 9:60,931,433...60,934,252
Ensembl chr 9:60,930,875...60,935,781
JBrowse link
G Ica1l islet cell autoantigen 1-like ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 2B ClinVar PMID:12353035 PMID:25814141 PMID:28492532 NCBI chr 9:61,410,959...61,469,884
Ensembl chr 9:61,412,091...61,470,134
JBrowse link
G Icos inducible T-cell co-stimulator ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 2B ClinVar PMID:12353035 PMID:25814141 PMID:28492532 NCBI chr 9:62,368,075...62,406,900
Ensembl chr 9:62,383,832...62,405,672
JBrowse link
G Mpp4 MAGUK p55 scaffold protein 4 ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 2B ClinVar PMID:12353035 PMID:25814141 PMID:28492532 NCBI chr 9:60,569,734...60,613,035
Ensembl chr 9:60,569,734...60,611,797
JBrowse link
G Nbeal1 neurobeachin-like 1 ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 2B ClinVar PMID:12353035 PMID:25814141 PMID:28492532 NCBI chr 9:61,575,154...61,743,896
Ensembl chr 9:61,575,356...61,736,750
JBrowse link
G Ndufb3 NADH:ubiquinone oxidoreductase subunit B3 ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 2B ClinVar PMID:12353035 PMID:25814141 PMID:28492532 NCBI chr 9:60,129,240...60,139,452
Ensembl chr 9:60,129,154...60,139,446
JBrowse link
G Nop58 NOP58 ribonucleoprotein ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 2B ClinVar PMID:12353035 PMID:25814141 PMID:28492532 NCBI chr 9:61,120,939...61,144,810
Ensembl chr 9:61,120,929...61,144,810
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:12353035 PMID:25814141 PMID:28492532 NCBI chr 9:61,907,476...61,990,170
Ensembl chr 9:61,907,758...61,961,209
JBrowse link
G Stradb STE20 related adaptor beta ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 2B ClinVar PMID:12353035 PMID:25814141 PMID:28492532 NCBI chr 9:60,414,182...60,433,084
Ensembl chr 9:60,414,182...60,433,084
JBrowse link
G Sumo1 small ubiquitin-like modifier 1 ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 2B ClinVar PMID:12353035 PMID:25814141 PMID:28492532 NCBI chr 9:61,078,790...61,108,697
Ensembl chr 9:61,077,435...61,108,761
JBrowse link
G Tmem237 transmembrane protein 237 ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 2B ClinVar PMID:12353035 PMID:25814141 PMID:28492532 NCBI chr 9:60,533,348...60,569,253
Ensembl chr 9:60,535,233...60,572,567
JBrowse link
G Trak2 trafficking kinesin protein 2 ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 2B ClinVar PMID:12353035 PMID:25814141 PMID:28492532 NCBI chr 9:60,348,531...60,414,036
Ensembl chr 9:60,350,012...60,413,996
JBrowse link
G Wdr12 WD repeat domain 12 ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 2B ClinVar PMID:12353035 PMID:25814141 PMID:28492532 NCBI chr 9:61,475,498...61,502,584
Ensembl chr 9:61,475,517...61,502,469
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:17576681 PMID:23319571 PMID:23430113 More... NCBI chr16:5,769,226...5,807,214
Ensembl chr16:5,769,215...5,799,352
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 chr16:5,827,063...5,861,120
Ensembl chr16:5,827,088...5,861,120
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 chr 4:178,185,418...178,218,484 JBrowse link
G Nras NRAS proto-oncogene, GTPase ISO ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IV OMIM
ClinVar
PMID:2407301 PMID:2674680 PMID:2989702 PMID:8120410 PMID:16291983 More... NCBI chr 2:190,582,885...190,593,509
Ensembl chr 2:190,582,918...190,591,626
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 chr 1:231,798,963...231,832,591
Ensembl chr 1:231,798,960...231,832,591
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 chr13:74,151,519...74,172,760
Ensembl chr13:74,154,954...74,162,215
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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:12353035 PMID:25814141 PMID:28492532 NCBI chr 9:61,856,379...61,904,029
Ensembl chr 9:61,827,139...61,905,699
JBrowse link
G Als2 alsin Rho guanine nucleotide exchange factor ALS2 ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type V ClinVar PMID:12353035 PMID:25814141 PMID:28492532 NCBI chr 9:60,613,182...60,686,394
Ensembl chr 9:60,613,167...60,670,737
JBrowse link
G Bmpr2 bone morphogenetic protein receptor type 2 ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type V ClinVar PMID:12353035 PMID:25814141 PMID:28492532 NCBI chr 9:61,192,718...61,307,280
Ensembl chr 9:61,190,566...61,301,809
JBrowse link
G C2cd6 C2 calcium dependent domain containing 6 ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type V ClinVar PMID:12353035 PMID:25814141 PMID:28492532 NCBI chr 9:60,434,926...60,530,843
Ensembl chr 9:60,434,925...60,530,806
JBrowse link
G Carf calcium responsive transcription factor ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type V ClinVar PMID:12353035 PMID:25814141 PMID:28492532 NCBI chr 9:61,502,368...61,552,433
Ensembl chr 9:61,506,956...61,550,462
JBrowse link
G Casp8 caspase 8 ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type V ClinVar PMID:12353035 PMID:25814141 PMID:28492532 NCBI chr 9:60,263,863...60,312,542
Ensembl chr 9:60,264,075...60,312,542
JBrowse link
G Cd28 Cd28 molecule ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type V ClinVar PMID:12353035 PMID:25814141 PMID:28492532 PMID:29729943 PMID:30326257 NCBI chr 9:62,166,324...62,194,674
Ensembl chr 9:62,166,192...62,194,685
JBrowse link
G Cdk15 cyclin-dependent kinase 15 ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type V ClinVar PMID:12353035 PMID:25814141 PMID:28492532 NCBI chr 9:60,710,787...60,803,638
Ensembl chr 9:60,711,715...60,802,777
JBrowse link
G Cflar CASP8 and FADD-like apoptosis regulator ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type V ClinVar PMID:12353035 PMID:25814141 PMID:28492532 NCBI chr 9:60,185,338...60,236,173
Ensembl chr 9:60,185,452...60,237,034
JBrowse link
G Ctla4 cytotoxic T-lymphocyte-associated protein 4 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 OMIM
ClinVar
PMID:8817351 PMID:9259273 PMID:9398726 PMID:9536098 PMID:10189842 More... NCBI chr 9:62,318,874...62,325,978
Ensembl chr 9:62,319,312...62,324,963
JBrowse link
G Cyp20a1 cytochrome P450, family 20, subfamily a, polypeptide 1 ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type V ClinVar PMID:12353035 PMID:25814141 PMID:28492532 NCBI chr 9:61,755,804...61,805,123
Ensembl chr 9:61,755,790...61,805,123
JBrowse link
G Fam117b family with sequence similarity 117, member B ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type V ClinVar PMID:12353035 PMID:25814141 PMID:28492532 NCBI chr 9:61,340,291...61,418,531
Ensembl chr 9:61,340,249...61,408,483
JBrowse link
G Flacc1 flagellum associated containing coiled-coil domains 1 ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type V ClinVar PMID:12353035 PMID:25814141 PMID:28492532 NCBI chr 9:60,315,581...60,343,692
Ensembl chr 9:60,315,582...60,343,648
JBrowse link
G Fzd7 frizzled class receptor 7 ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type V ClinVar PMID:12353035 PMID:25814141 PMID:28492532 NCBI chr 9:60,931,433...60,934,252
Ensembl chr 9:60,930,875...60,935,781
JBrowse link
G Ica1l islet cell autoantigen 1-like ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type V ClinVar PMID:12353035 PMID:25814141 PMID:28492532 NCBI chr 9:61,410,959...61,469,884
Ensembl chr 9:61,412,091...61,470,134
JBrowse link
G Icos inducible T-cell co-stimulator ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type V ClinVar PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25814141 More... NCBI chr 9:62,368,075...62,406,900
Ensembl chr 9:62,383,832...62,405,672
JBrowse link
G Mpp4 MAGUK p55 scaffold protein 4 ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type V ClinVar PMID:12353035 PMID:25814141 PMID:28492532 NCBI chr 9:60,569,734...60,613,035
Ensembl chr 9:60,569,734...60,611,797
JBrowse link
G Nbeal1 neurobeachin-like 1 ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type V ClinVar PMID:12353035 PMID:25814141 PMID:28492532 NCBI chr 9:61,575,154...61,743,896
Ensembl chr 9:61,575,356...61,736,750
JBrowse link
G Ndufb3 NADH:ubiquinone oxidoreductase subunit B3 ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type V ClinVar PMID:12353035 PMID:25814141 PMID:28492532 NCBI chr 9:60,129,240...60,139,452
Ensembl chr 9:60,129,154...60,139,446
JBrowse link
G Nop58 NOP58 ribonucleoprotein ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type V ClinVar PMID:12353035 PMID:25814141 PMID:28492532 NCBI chr 9:61,120,939...61,144,810
Ensembl chr 9:61,120,929...61,144,810
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:12353035 PMID:25814141 PMID:28492532 PMID:29729943 PMID:30326257 NCBI chr 9:61,907,476...61,990,170
Ensembl chr 9:61,907,758...61,961,209
JBrowse link
G Stradb STE20 related adaptor beta ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type V ClinVar PMID:12353035 PMID:25814141 PMID:28492532 NCBI chr 9:60,414,182...60,433,084
Ensembl chr 9:60,414,182...60,433,084
JBrowse link
G Sumo1 small ubiquitin-like modifier 1 ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type V ClinVar PMID:12353035 PMID:25814141 PMID:28492532 NCBI chr 9:61,078,790...61,108,697
Ensembl chr 9:61,077,435...61,108,761
JBrowse link
G Tmem237 transmembrane protein 237 ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type V ClinVar PMID:12353035 PMID:25814141 PMID:28492532 NCBI chr 9:60,533,348...60,569,253
Ensembl chr 9:60,535,233...60,572,567
JBrowse link
G Trak2 trafficking kinesin protein 2 ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type V ClinVar PMID:12353035 PMID:25814141 PMID:28492532 NCBI chr 9:60,348,531...60,414,036
Ensembl chr 9:60,350,012...60,413,996
JBrowse link
G Wdr12 WD repeat domain 12 ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type V ClinVar PMID:12353035 PMID:25814141 PMID:28492532 NCBI chr 9:61,475,498...61,502,584
Ensembl chr 9:61,475,517...61,502,469
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18032
    syndrome 9456
      primary immunodeficiency disease 3718
        lymphoproliferative syndrome 890
          autoimmune lymphoproliferative syndrome 64
            Autoimmune Lymphoproliferative Syndrome, Type I, Autosomal Recessive 0
            Autoimmune Lymphoproliferative Syndrome, Type IA 1
            Autoimmune Lymphoproliferative Syndrome, Type IB 1
            Autoimmune Lymphoproliferative Syndrome, Type V 26
            Dianzani Autoimmune Lymphoproliferative Syndrome 0
            autoimmune lymphoproliferative syndrome type 2A 0
            autoimmune lymphoproliferative syndrome type 2B 26
            autoimmune lymphoproliferative syndrome type 3 2
            autoimmune lymphoproliferative syndrome type 4 2
Path 2
Term Annotations click to browse term
  disease 18032
    disease of anatomical entity 17412
      Immune & Inflammatory Diseases 5046
        immune system disease 4372
          Immunoproliferative Disorders 900
            lymphoproliferative syndrome 890
              autoimmune lymphoproliferative syndrome 64
                Autoimmune Lymphoproliferative Syndrome, Type I, Autosomal Recessive 0
                Autoimmune Lymphoproliferative Syndrome, Type IA 1
                Autoimmune Lymphoproliferative Syndrome, Type IB 1
                Autoimmune Lymphoproliferative Syndrome, Type V 26
                Dianzani Autoimmune Lymphoproliferative Syndrome 0
                autoimmune lymphoproliferative syndrome type 2A 0
                autoimmune lymphoproliferative syndrome type 2B 26
                autoimmune lymphoproliferative syndrome type 3 2
                autoimmune lymphoproliferative syndrome type 4 2
paths to the root