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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:leukocyte disease
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Accession:DOID:9500 term browser browse the term
Definition:A hematopoietic system disease that is located_in white blood cells. (DO)
Synonyms:exact_synonym: leukocyte disorder;   leukocyte disorders
 primary_id: MESH:D007960
 xref: ICD10CM:D72.9;   ICD9CM:288


show annotations for term's descendants           Sort by:
leukocyte disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Itgb2 integrin subunit beta 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:2880869 PMID:9653089 NCBI chr20:11,061,394...11,097,656
Ensembl chr20:11,061,430...11,097,600 		JBrowse link
G Plg plasminogen ISO CTD Direct Evidence: marker/mechanism CTD PMID:30213540 NCBI chr 1:48,325,186...48,367,643
Ensembl chr 1:48,325,185...48,367,786 		JBrowse link
3-methylglutaconic aciduria type 7a term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Clpb ClpB family mitochondrial disaggregase ISO ClinVar Annotator: match by term: 3-METHYLGLUTACONIC ACIDURIA, TYPE VIIA | ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIA OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:32313153 PMID:34140661 NCBI chr 1:156,028,740...156,158,183
Ensembl chr 1:156,028,930...156,168,788 		JBrowse link
3-methylglutaconic aciduria type 7b term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Anapc15 anaphase promoting complex subunit 15 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 1:156,238,640...156,266,005
Ensembl chr 1:156,262,841...156,268,145 		JBrowse link
G Arap1 ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 1:155,748,622...155,814,186
Ensembl chr 1:155,748,652...155,814,184 		JBrowse link
G Arhgef17 Rho guanine nucleotide exchange factor 17 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 1:155,230,607...155,290,163
Ensembl chr 1:155,233,168...155,290,498 		JBrowse link
G Arrb1 arrestin, beta 1 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 1:153,837,964...153,912,111
Ensembl chr 1:153,838,078...153,904,061 		JBrowse link
G Atg16l2 autophagy related 16-like 2 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 1:155,687,386...155,703,419
Ensembl chr 1:155,684,564...155,703,420 		JBrowse link
G C2cd3 C2 domain containing 3 centriole elongation regulator ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 1:154,715,151...154,812,955
Ensembl chr 1:154,715,310...154,812,520 		JBrowse link
G Chrdl2 chordin-like 2 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 1:154,343,201...154,370,651
Ensembl chr 1:154,343,201...154,370,640 		JBrowse link
G Clpb ClpB family mitochondrial disaggregase ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:25595726 PMID:25597510 More... NCBI chr 1:156,028,740...156,158,183
Ensembl chr 1:156,028,930...156,168,788 		JBrowse link
G Coa4 cytochrome c oxidase assembly factor 4 homolog ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 1:154,882,199...154,885,445
Ensembl chr 1:154,882,155...154,888,174 		JBrowse link
G Dhcr7 7-dehydrocholesterol reductase ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 1:199,015,081...199,031,055
Ensembl chr 1:199,015,081...199,031,055 		JBrowse link
G Dnajb13 DnaJ heat shock protein family (Hsp40) member B13 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 1:154,848,586...154,863,042
Ensembl chr 1:154,848,594...154,862,963 		JBrowse link
G Fam168a family with sequence similarity 168, member A ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 1:155,057,352...155,203,439
Ensembl chr 1:155,057,352...155,201,220 		JBrowse link
G Fchsd2 FCH and double SH3 domains 2 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 1:155,444,471...155,685,350
Ensembl chr 1:155,444,460...155,685,539 		JBrowse link
G Folr1 folate receptor alpha ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 1:156,219,460...156,238,436
Ensembl chr 1:156,219,460...156,230,667 		JBrowse link
G Folr2 folate receptor beta ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 1:156,200,044...156,218,380
Ensembl chr 1:156,200,060...156,205,724 		JBrowse link
G Gdpd5 glycerophosphodiester phosphodiesterase domain containing 5 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 1:153,679,718...153,761,452
Ensembl chr 1:153,679,718...153,761,446 		JBrowse link
G Il18bp interleukin 18 binding protein ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 1:156,372,923...156,374,963
Ensembl chr 1:156,372,883...156,374,963 		JBrowse link
G Inppl1 inositol polyphosphate phosphatase-like 1 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 1:156,183,043...156,197,500
Ensembl chr 1:156,183,059...156,197,500 		JBrowse link
G Kcne3 potassium voltage-gated channel subfamily E regulatory subunit 3 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 1:154,523,903...154,530,865
Ensembl chr 1:154,523,830...154,532,020 		JBrowse link
G Klhl35 kelch-like family member 35 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 1:153,767,138...153,773,550
Ensembl chr 1:153,767,970...153,773,557 		JBrowse link
G Krtap5-8 keratin associated protein 5-8 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 1:197,446,125...197,446,817
Ensembl chr 1:197,446,125...197,446,817 		JBrowse link
G Lamtor1 late endosomal/lysosomal adaptor, MAPK and MTOR activator 1 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 1:156,272,116...156,277,687
Ensembl chr 1:156,272,064...156,291,179 		JBrowse link
G Lipt2 lipoyl(octanoyl) transferase 2 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 1:154,504,563...154,506,890
Ensembl chr 1:154,504,563...154,506,890 		JBrowse link
G Lrtomt leucine rich transmembrane and O-methyltransferase domain containing ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 1:156,266,655...156,268,704
Ensembl chr 1:156,266,655...156,268,704 		JBrowse link
G Mir139 microRNA 139 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 1:155,878,828...155,878,895
Ensembl chr 1:155,878,825...155,878,902 		JBrowse link
G Mir326 microRNA 326 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 1:153,854,029...153,854,123
Ensembl chr 1:153,854,029...153,854,123 		JBrowse link
G Mrpl48 mitochondrial ribosomal protein L48 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 1:154,896,663...154,939,285
Ensembl chr 1:154,896,663...154,939,281 		JBrowse link
G Nadsyn1 NAD synthetase 1 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 1:198,981,559...199,009,853
Ensembl chr 1:198,981,604...199,009,869 		JBrowse link
G Neu3 neuraminidase 3 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 1:154,137,732...154,148,879
Ensembl chr 1:154,050,855...154,148,813 		JBrowse link
G Numa1 nuclear mitotic apparatus protein 1 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 1:156,297,907...156,372,855
Ensembl chr 1:156,326,259...156,372,855 		JBrowse link
G Olr35 olfactory receptor 35 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 1:153,994,678...154,043,281
Ensembl chr 1:154,041,306...154,043,257 		JBrowse link
G P2ry2 purinergic receptor P2Y2 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 1:155,352,050...155,367,423
Ensembl chr 1:155,351,165...155,367,632 		JBrowse link
G P2ry6 pyrimidinergic receptor P2Y6 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 1:155,295,110...155,330,610
Ensembl chr 1:155,295,111...155,330,808 		JBrowse link
G P4ha3 prolyl 4-hydroxylase subunit alpha 3 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 1:154,628,723...154,663,779
Ensembl chr 1:154,628,736...154,663,775 		JBrowse link
G Pde2a phosphodiesterase 2A ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 1:155,823,590...155,915,434
Ensembl chr 1:155,813,180...155,915,434 		JBrowse link
G Pgm2l1 phosphoglucomutase 2-like 1 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 1:154,571,410...154,620,901
Ensembl chr 1:154,571,766...154,620,902 		JBrowse link
G Phox2a paired-like homeobox 2a ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 1:156,178,754...156,183,118
Ensembl chr 1:156,178,754...156,183,118 		JBrowse link
G Plekhb1 pleckstrin homology domain containing B1 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 1:154,998,798...155,013,094
Ensembl chr 1:154,998,800...155,016,142 		JBrowse link
G Pold3 DNA polymerase delta 3, accessory subunit ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 1:154,417,893...154,456,687
Ensembl chr 1:154,418,084...154,456,665 		JBrowse link
G Ppme1 protein phosphatase methylesterase 1 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 1:154,668,099...154,715,079
Ensembl chr 1:154,668,109...154,715,110 		JBrowse link
G Rab6a RAB6A, member RAS oncogene family ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 1:154,957,870...155,008,922
Ensembl chr 1:154,958,189...154,996,715 		JBrowse link
G Relt RELT, TNF receptor ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 1:155,206,976...155,224,609
Ensembl chr 1:155,206,976...155,214,196 		JBrowse link
G Rnf121 ring finger protein 121 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 1:156,377,368...156,439,936
Ensembl chr 1:156,377,364...156,446,826 		JBrowse link
G Rnf169 ring finger protein 169 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 1:154,250,462...154,311,867
Ensembl chr 1:154,254,473...154,311,653 		JBrowse link
G Rps3 ribosomal protein S3 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 1:153,778,363...153,783,663
Ensembl chr 1:153,777,472...153,783,680 		JBrowse link
G Serpinh1 serpin family H member 1 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 1:153,643,500...153,650,853
Ensembl chr 1:153,643,510...153,650,801 		JBrowse link
G Slco2b1 solute carrier organic anion transporter family, member 2b1 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 1:153,959,288...154,007,294
Ensembl chr 1:153,959,293...154,007,353 		JBrowse link
G Snord15a small nucleolar RNA, C/D box 15A ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 1:153,782,788...153,782,935
Ensembl chr 1:153,782,788...153,782,935 		JBrowse link
G Spcs2 signal peptidase complex subunit 2 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 1:154,163,724...154,183,152
Ensembl chr 1:154,163,724...154,183,186 		JBrowse link
G Stard10 StAR-related lipid transfer domain containing 10 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 1:155,722,637...155,748,007
Ensembl chr 1:155,718,389...155,747,094 		JBrowse link
G Tpbgl trophoblast glycoprotein-like ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 1:153,923,722...153,926,548
Ensembl chr 1:153,925,098...153,926,252 		JBrowse link
G Ucp2 uncoupling protein 2 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 1:154,839,242...154,845,612
Ensembl chr 1:154,839,209...154,845,611 		JBrowse link
G Ucp3 uncoupling protein 3 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 1:154,815,777...154,828,764
Ensembl chr 1:154,815,777...154,828,762 		JBrowse link
G Xrra1 X-ray radiation resistance associated 1 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 1:154,183,330...154,247,883
Ensembl chr 1:154,183,377...154,247,895 		JBrowse link
3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Clpb ClpB family mitochondrial disaggregase ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropenia ClinVar PMID:9536098 PMID:17576681 PMID:25595726 PMID:25597511 PMID:25741868 More... NCBI chr 1:156,028,740...156,158,183
Ensembl chr 1:156,028,930...156,168,788 		JBrowse link
agranulocytosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Csf2 colony stimulating factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:8120554 PMID:11732872 NCBI chr10:38,386,945...38,388,926
Ensembl chr10:38,386,945...38,389,199 		JBrowse link
G Csf3 colony stimulating factor 3 ISO CTD Direct Evidence: therapeutic CTD PMID:15999287 NCBI chr10:83,660,787...83,664,569
Ensembl chr10:83,661,207...83,663,603 		JBrowse link
G Il1b interleukin 1 beta treatment ISO RGD PMID:1331350 RGD:10450883 NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415 		JBrowse link
G Nqo2 N-ribosyldihydronicotinamide:quinone dehydrogenase 2 ISO associated with schizophrenia;DNA:SNPs:exons, intron:multiple
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:14617031 PMID:14617031 RGD:11073696 NCBI chr17:30,909,482...30,938,725
Ensembl chr17:30,909,187...30,938,320 		JBrowse link
G RT1-Bb RT1 class II, locus Bb ISO DNA:SNP: :6672G>C (human) RGD PMID:20868635 RGD:11041752 NCBI chr20:4,596,558...4,602,201
Ensembl chr20:4,596,559...4,607,597 		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 ClinVar Annotator: match by term: Alpha/beta T-cell lymphopenia with gamma/delta T-cell expansion, severe cytomegalovirus infection, and autoimmunity
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:2682973 PMID:2808362 PMID:8810255 PMID:9630231 PMID:10606976 More... NCBI chr 3:87,917,061...87,928,158
Ensembl chr 3:87,917,004...87,928,291 		JBrowse link
Autoinflammation, Immune Dysregulation, and Eosinophilia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col9a3 collagen type IX alpha 3 chain ISO Oculoskeletal dysplasia 1 OMIA PMID:830631 PMID:1525714 PMID:3204050 PMID:20686772 PMID:22065099 More... NCBI chr 3:167,711,776...167,734,468
Ensembl chr 3:167,711,840...167,734,465 		JBrowse link
G Jak1 Janus kinase 1 ISO ClinVar Annotator: match by term: Autoinflammation, immune dysregulation, and eosinophilia | ClinVar Annotator: match by term: JAK1-related condition OMIM
ClinVar		 PMID:20167706 PMID:24728327 PMID:25352124 PMID:25741868 PMID:28111307 More... NCBI chr 5:115,780,248...115,888,841
Ensembl chr 5:115,780,248...115,888,926 		JBrowse link
autosomal recessive chronic granulomatous disease 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ncf1 neutrophil cytosolic factor 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Chronic granulomatous disease 1, autosomal recessive | ClinVar Annotator: match by term: GRANULOMATOUS DISEASE, CHRONIC, DUE TO NCF1 DEFICIENCY		 OMIM
CTD
ClinVar		 PMID:742630 PMID:7678602 PMID:11133775 PMID:11433300 PMID:11920901 More... NCBI chr12:22,485,382...22,494,647
Ensembl chr12:22,485,451...22,494,646 		JBrowse link
autosomal recessive chronic granulomatous disease 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acbd6 acyl-CoA binding domain containing 6 ISO ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 ClinVar PMID:28492532 NCBI chr13:67,726,786...67,863,392
Ensembl chr13:67,726,786...67,862,311 		JBrowse link
G Axdnd1 axonemal dynein light chain domain containing 1 ISO ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 ClinVar PMID:28492532 NCBI chr13:68,471,957...68,544,788
Ensembl chr13:68,458,411...68,544,172 		JBrowse link
G Cacna1e calcium voltage-gated channel subunit alpha1 E ISO ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 ClinVar PMID:28492532 NCBI chr13:66,574,659...67,063,443
Ensembl chr13:66,581,920...66,894,450 		JBrowse link
G Cep350 centrosomal protein 350 ISO ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 ClinVar PMID:28492532 NCBI chr13:68,023,327...68,164,478
Ensembl chr13:68,026,891...68,165,214 		JBrowse link
G Dhx9 DExH-box helicase 9 ISO ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 ClinVar PMID:28492532 NCBI chr13:65,602,322...65,639,098
Ensembl chr13:65,602,323...65,639,069 		JBrowse link
G Fam163a family with sequence similarity 163, member A ISO ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 ClinVar PMID:28492532 NCBI chr13:68,262,867...68,341,323
Ensembl chr13:68,262,872...68,341,049 		JBrowse link
G Glul glutamate-ammonia ligase ISO ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 ClinVar PMID:28492532 NCBI chr13:65,969,053...66,035,121
Ensembl chr13:66,025,630...66,035,108 		JBrowse link
G Ier5 immediate early response 5 ISO ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 ClinVar PMID:28492532 NCBI chr13:67,270,134...67,272,226
Ensembl chr13:67,270,135...67,272,227 		JBrowse link
G Kiaa1614 KIAA1614 homolog ISO ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 ClinVar PMID:28492532 NCBI chr13:67,388,916...67,427,392
Ensembl chr13:67,389,044...67,421,272 		JBrowse link
G Lamc1 laminin subunit gamma 1 ISO ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 ClinVar PMID:28492532 NCBI chr13:65,374,372...65,501,492
Ensembl chr13:65,374,372...65,501,492 		JBrowse link
G Lamc2 laminin subunit gamma 2 ISO ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 ClinVar PMID:28492532 NCBI chr13:65,284,664...65,344,164
Ensembl chr13:65,284,664...65,344,200 		JBrowse link
G Lhx4 LIM homeobox 4 ISO ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 ClinVar PMID:28492532 NCBI chr13:67,877,109...67,917,219
Ensembl chr13:67,877,109...67,927,003 		JBrowse link
G Mr1 major histocompatibility complex, class I-related ISO ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 ClinVar PMID:28492532 NCBI chr13:67,298,362...67,317,985
Ensembl chr13:67,299,585...67,317,970 		JBrowse link
G Ncf2 neutrophil cytosolic factor 2 ISO ClinVar Annotator: match by term: GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 2 | ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:7795241 PMID:8781442 PMID:8879195 PMID:9536098 PMID:10498624 More... NCBI chr13:64,955,622...64,986,144
Ensembl chr13:64,955,503...64,986,277 		JBrowse link
G Nmnat2 nicotinamide nucleotide adenylyltransferase 2 ISO ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 ClinVar PMID:28492532 NCBI chr13:65,105,950...65,277,350
Ensembl chr13:65,105,950...65,278,484 		JBrowse link
G Nphs2 NPHS2 stomatin family member, podocin ISO ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 ClinVar PMID:28492532 NCBI chr13:68,448,720...68,461,312
Ensembl chr13:68,448,926...68,461,313 		JBrowse link
G Npl N-acetylneuraminate pyruvate lyase ISO ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 ClinVar PMID:28492532 NCBI chr13:65,655,099...65,697,464
Ensembl chr13:65,655,118...65,697,372 		JBrowse link
G Qsox1 quiescin sulfhydryl oxidase 1 ISO ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 ClinVar PMID:28492532 NCBI chr13:67,949,780...67,987,434
Ensembl chr13:67,949,780...67,987,459 		JBrowse link
G Rgs16 regulator of G-protein signaling 16 ISO ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 ClinVar PMID:28492532 NCBI chr13:65,887,668...65,892,862
Ensembl chr13:65,887,530...65,892,857 		JBrowse link
G Rgs8 regulator of G-protein signaling 8 ISO ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 ClinVar PMID:28492532 NCBI chr13:65,804,703...65,848,955
Ensembl chr13:65,804,797...65,846,807 		JBrowse link
G Rgsl1 regulator of G-protein signaling like 1 ISO ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 ClinVar PMID:28492532 NCBI chr13:65,915,052...65,969,846
Ensembl chr13:65,915,097...65,968,954 		JBrowse link
G Rnasel ribonuclease L ISO ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 ClinVar PMID:28492532 NCBI chr13:65,894,990...65,910,354
Ensembl chr13:65,901,459...65,908,704 		JBrowse link
G Shcbp1l SHC binding and spindle associated 1 like ISO ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 ClinVar PMID:28492532 NCBI chr13:65,568,863...65,599,155
Ensembl chr13:65,568,863...65,599,154 		JBrowse link
G Smg7 SMG7 nonsense mediated mRNA decay factor ISO ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 ClinVar PMID:28492532 NCBI chr13:64,986,145...65,050,698
Ensembl chr13:64,987,434...65,050,582 		JBrowse link
G Stx6 syntaxin 6 ISO ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 ClinVar PMID:28492532 NCBI chr13:67,332,329...67,378,580
Ensembl chr13:67,332,314...67,378,576 		JBrowse link
G Tdrd5 tudor domain containing 5 ISO ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 ClinVar PMID:28492532 NCBI chr13:68,394,180...68,447,745
Ensembl chr13:68,394,061...68,441,319 		JBrowse link
G Teddm1b transmembrane epididymal protein 1B ISO ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 ClinVar PMID:28492532 NCBI chr13:66,000,188...66,002,536
Ensembl chr13:66,000,281...66,001,189 		JBrowse link
G Tor1aip1 torsin 1A interacting protein 1 ISO ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 ClinVar PMID:28492532 NCBI chr13:68,196,681...68,226,121
Ensembl chr13:68,196,681...68,225,862 		JBrowse link
G Tor1aip2 torsin 1A interacting protein 2 ISO ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 ClinVar PMID:28492532 NCBI chr13:68,225,226...68,256,536
Ensembl chr13:68,230,009...68,256,536
Ensembl chr13:68,230,009...68,256,536 		JBrowse link
G Xpr1 xenotropic and polytropic retrovirus receptor 1 ISO ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 ClinVar PMID:28492532 NCBI chr13:67,441,205...67,585,950
Ensembl chr13:67,446,380...67,585,946 		JBrowse link
G Zfp648 zinc finger protein 648 ISO ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 ClinVar PMID:28492532 NCBI chr13:66,337,098...66,344,963
Ensembl chr13:66,342,427...66,344,031 		JBrowse link
autosomal recessive chronic granulomatous disease 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cimip4 ciliary microtubule inner protein 4 ISO ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type III ClinVar PMID:28492532 NCBI chr 7:109,928,165...109,944,994
Ensembl chr 7:109,928,173...109,947,072 		JBrowse link
G Csf2rb colony stimulating factor 2 receptor subunit beta ISO ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type III ClinVar PMID:28492532 NCBI chr 7:109,876,919...109,901,589
Ensembl chr 7:109,886,425...109,904,157 		JBrowse link
G Ncf1 neutrophil cytosolic factor 1 ISO ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type III ClinVar PMID:11920901 PMID:24446915 PMID:25741868 PMID:33746979 NCBI chr12:22,485,382...22,494,647
Ensembl chr12:22,485,451...22,494,646 		JBrowse link
G Ncf4 neutrophil cytosolic factor 4 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: CGD, AUTOSOMAL RECESSIVE CYTOCHROME b-POSITIVE, TYPE III | ClinVar Annotator: match by term: GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 3 | ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type III		 OMIM
CTD
ClinVar		 PMID:9536098 PMID:16199547 PMID:16880254 PMID:17576681 PMID:19692703 More... NCBI chr 7:109,825,420...109,843,389
Ensembl chr 7:109,826,020...109,843,389 		JBrowse link
G Tst thiosulfate sulfurtransferase ISO ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type III ClinVar PMID:28492532 NCBI chr 7:109,948,061...109,955,378
Ensembl chr 7:109,948,062...109,957,216 		JBrowse link
autosomal recessive chronic granulomatous disease 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acsf3 acyl-CoA synthetase family member 3 ISO ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative ClinVar PMID:10910929 PMID:20167518 PMID:22876374 PMID:28492532 NCBI chr19:50,835,116...50,875,557
Ensembl chr19:50,835,221...50,875,553 		JBrowse link
G Ankrd11 ankyrin repeat domain containing 11 ISO ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative ClinVar PMID:28492532 NCBI chr19:50,940,284...51,098,962
Ensembl chr19:50,940,299...51,098,962 		JBrowse link
G Aprt adenine phosphoribosyl transferase ISO ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative ClinVar PMID:10910929 PMID:20167518 PMID:22876374 PMID:28492532 NCBI chr19:50,626,201...50,628,491
Ensembl chr19:50,626,202...50,628,431 		JBrowse link
G Banp Btg3 associated nuclear protein ISO ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative ClinVar PMID:28492532 NCBI chr19:50,007,710...50,082,742
Ensembl chr19:50,007,881...50,082,738 		JBrowse link
G Car5a carbonic anhydrase 5A ISO ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative ClinVar PMID:28492532 NCBI chr19:49,973,092...50,002,948
Ensembl chr19:49,973,107...50,002,906 		JBrowse link
G Cbfa2t3 CBFA2/RUNX1 partner transcriptional co-repressor 3 ISO ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative ClinVar PMID:10910929 PMID:20167518 PMID:22876374 PMID:28492532 NCBI chr19:50,679,897...50,750,028
Ensembl chr19:50,680,729...50,749,610 		JBrowse link
G Cdh15 cadherin 15 ISO ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative ClinVar PMID:28492532 NCBI chr19:50,903,757...50,927,151
Ensembl chr19:50,903,638...50,927,105 		JBrowse link
G Cdk10 cyclin-dependent kinase 10 ISO ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative ClinVar PMID:28492532 NCBI chr19:51,260,012...51,273,009
Ensembl chr19:51,261,356...51,269,078 		JBrowse link
G Cdt1 chromatin licensing and DNA replication factor 1 ISO ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative ClinVar PMID:10910929 PMID:20167518 PMID:22876374 PMID:28492532 NCBI chr19:50,620,713...50,625,659
Ensembl chr19:50,620,713...50,625,659 		JBrowse link
G Chmp1a charged multivesicular body protein 1A ISO ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative ClinVar PMID:28492532 NCBI chr19:51,238,153...51,246,433
Ensembl chr19:51,238,160...51,246,436 		JBrowse link
G Cpne7 copine 7 ISO ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative ClinVar PMID:28492532 NCBI chr19:51,164,316...51,182,676
Ensembl chr19:51,166,034...51,182,677 		JBrowse link
G Ctu2 cytosolic thiouridylase subunit 2 ISO ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative ClinVar PMID:10910929 PMID:20167518 PMID:22876374 PMID:28492532 NCBI chr19:50,539,184...50,544,629
Ensembl chr19:50,539,352...50,544,623 		JBrowse link
G Cyba cytochrome b-245 alpha chain ISO ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:1415254 PMID:1763037 PMID:2243141 PMID:3368442 PMID:3571224 More... NCBI chr19:50,487,598...50,495,669
Ensembl chr19:50,487,597...50,495,721 		JBrowse link
G Dbndd1 dysbindin domain containing 1 ISO ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative ClinVar PMID:28492532 NCBI chr19:51,539,154...51,548,441
Ensembl chr19:51,539,148...51,548,444 		JBrowse link
G Def8 differentially expressed in FDCP 8 homolog ISO ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative ClinVar PMID:28492532 NCBI chr19:51,474,783...51,495,638
Ensembl chr19:51,474,878...51,495,638 		JBrowse link
G Dpep1 dipeptidase 1 ISO ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative ClinVar PMID:28492532 NCBI chr19:51,209,831...51,237,004
Ensembl chr19:51,219,660...51,235,257 		JBrowse link
G Fanca FA complementation group A ISO ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative ClinVar PMID:28492532 NCBI chr19:51,304,126...51,362,586
Ensembl chr19:51,304,021...51,362,527 		JBrowse link
G Galns galactosamine (N-acetyl)-6-sulfatase ISO ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative ClinVar PMID:10910929 PMID:20167518 PMID:22876374 PMID:28492532 NCBI chr19:50,628,639...50,662,477
Ensembl chr19:50,628,552...50,662,246 		JBrowse link
G Gas8 growth arrest specific 8 ISO ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative ClinVar PMID:28492532 NCBI chr19:51,552,770...51,572,323
Ensembl chr19:51,552,816...51,572,305 		JBrowse link
G Il17c interleukin 17C ISO ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative ClinVar PMID:28492532 NCBI chr19:50,484,890...50,486,169
Ensembl chr19:50,484,890...50,486,169 		JBrowse link
G Jph3 junctophilin 3 ISO ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative ClinVar PMID:28492532 NCBI chr19:49,793,967...49,855,338
Ensembl chr19:49,793,092...49,855,338 		JBrowse link
G Klhdc4 kelch domain containing 4 ISO ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative ClinVar PMID:28492532 NCBI chr19:49,860,975...49,894,027
Ensembl chr19:49,860,967...49,894,868 		JBrowse link
G Mc1r melanocortin 1 receptor ISO ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative ClinVar PMID:28492532 NCBI chr19:51,452,448...51,455,375
Ensembl chr19:51,453,239...51,454,192 		JBrowse link
G Mvd mevalonate diphosphate decarboxylase ISO ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative ClinVar PMID:10910929 PMID:20167518 PMID:22876374 PMID:23910690 PMID:28492532 NCBI chr19:50,496,366...50,506,429
Ensembl chr19:50,496,367...50,507,971 		JBrowse link
G Pabpn1l PABPN1 like ISO ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative ClinVar PMID:10910929 PMID:20167518 PMID:22876374 PMID:28492532 NCBI chr19:50,669,965...50,673,409
Ensembl chr19:50,669,967...50,673,366 		JBrowse link
G Piezo1 piezo-type mechanosensitive ion channel component 1 ISO ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative ClinVar PMID:10910929 PMID:20167518 PMID:22876374 PMID:28492532 NCBI chr19:50,544,580...50,606,812
Ensembl chr19:50,544,582...50,606,501 		JBrowse link
G Rnf166 ring finger protein 166 ISO ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative ClinVar PMID:10910929 PMID:20167518 PMID:22876374 PMID:28492532 NCBI chr19:50,529,434...50,539,274
Ensembl chr19:50,529,434...50,539,274 		JBrowse link
G Rpl13 ribosomal protein L13 ISO ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative ClinVar PMID:28492532 NCBI chr19:51,153,990...51,156,541
Ensembl chr19:51,153,924...51,163,014 		JBrowse link
G Slc7a5 solute carrier family 7 member 5 ISO ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative ClinVar PMID:28492532 NCBI chr19:49,935,220...49,963,823
Ensembl chr19:49,935,220...49,963,823 		JBrowse link
G Snai3 snail family transcriptional repressor 3 ISO ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative ClinVar PMID:10910929 PMID:20167518 PMID:22876374 PMID:28492532 NCBI chr19:50,516,771...50,529,295
Ensembl chr19:50,516,771...50,523,486 		JBrowse link
G Spata2L spermatogenesis associated 2-like ISO ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative ClinVar PMID:28492532 NCBI chr19:51,269,078...51,273,605
Ensembl chr19:51,269,078...51,273,510 		JBrowse link
G Spata33 spermatogenesis associated 33 ISO ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative ClinVar PMID:28492532 NCBI chr19:51,246,514...51,258,894
Ensembl chr19:51,246,514...51,258,894 		JBrowse link
G Spire2 spire-type actin nucleation factor 2 ISO ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative ClinVar PMID:28492532 NCBI chr19:51,373,368...51,411,920
Ensembl chr19:51,373,228...51,411,920 		JBrowse link
G Tcf25 transcription factor 25 ISO ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative ClinVar PMID:28492532 NCBI chr19:51,415,341...51,449,725
Ensembl chr19:51,415,543...51,449,723 		JBrowse link
G Trappc2l trafficking protein particle complex subunit 2L ISO ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative ClinVar PMID:10910929 PMID:20167518 PMID:22876374 PMID:28492532 NCBI chr19:50,662,507...50,666,193
Ensembl chr19:50,662,507...50,666,192 		JBrowse link
G Tubb3 tubulin, beta 3 class III ISO ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative ClinVar PMID:28492532 NCBI chr19:51,457,187...51,466,243
Ensembl chr19:51,457,184...51,466,243 		JBrowse link
G Vps9d1 VPS9 domain containing 1 ISO ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative ClinVar PMID:28492532 NCBI chr19:51,276,998...51,290,726
Ensembl chr19:51,277,000...51,290,634 		JBrowse link
G Zc3h18 zinc finger CCCH-type containing 18 ISO ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative ClinVar PMID:28492532 NCBI chr19:50,434,864...50,479,855
Ensembl chr19:50,434,903...50,479,854 		JBrowse link
G Zfp26 zinc finger protein 26 ISO ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative ClinVar PMID:28492532 NCBI chr 8:18,959,656...18,985,647
Ensembl chr 8:18,965,271...18,988,325 		JBrowse link
G Zfp276 zinc finger protein (C2H2 type) 276 ISO ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative ClinVar PMID:28492532 NCBI chr19:51,291,005...51,304,240
Ensembl chr19:51,290,777...51,304,049 		JBrowse link
G Zfp469 zinc finger protein 469 ISO ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative ClinVar PMID:28492532 NCBI chr19:50,282,337...50,324,010 JBrowse link
G Zfpm1 zinc finger protein, multitype 1 ISO ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative ClinVar PMID:28492532 NCBI chr19:50,334,352...50,391,029
Ensembl chr19:50,334,682...50,390,591 		JBrowse link
autosomal recessive chronic granulomatous disease 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cybc1 cytochrome b-245 chaperone 1 ISO ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, 5 OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:28492532 PMID:28600779 PMID:30312704 More... NCBI chr10:106,498,730...106,505,549
Ensembl chr10:106,498,725...106,505,596 		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 susceptibility ISO DNA:SNPs,haplotype: :rs1481012,rs2231142(human) RGD PMID:21918980 RGD:11080977 NCBI chr 4:87,676,241...87,802,757
Ensembl chr 4:87,745,319...87,802,409 		JBrowse link
G Acoxl acyl-CoA oxidase-like ISO CTD Direct Evidence: marker/mechanism CTD PMID:23770605 NCBI chr 3:115,061,069...115,367,032
Ensembl chr 3:115,061,060...115,364,686 		JBrowse link
G Aicda activation-induced cytidine deaminase disease_progression ISO RGD PMID:21133730 RGD:11039455 NCBI chr 4:155,774,132...155,783,972
Ensembl chr 4:155,774,132...155,783,972 		JBrowse link
G Apoe apolipoprotein E disease_progression ISO RGD PMID:18784741 RGD:11040549 NCBI chr 1:79,353,924...79,357,852
Ensembl chr 1:79,353,916...79,357,932 		JBrowse link
G Atm ATM serine/threonine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:17968022 NCBI chr 8:53,828,741...53,932,773
Ensembl chr 8:53,831,093...53,932,437 		JBrowse link
G Bcl11a BCL11 transcription factor A ISO DNA:translocation:5' utr: (human) RGD PMID:11719382 RGD:11100004 NCBI chr14:98,029,018...98,124,181
Ensembl chr14:98,030,461...98,124,180 		JBrowse link
G Bcl2 BCL2, apoptosis regulator treatment
severity
no_association		 ISO CTD Direct Evidence: marker/mechanism
protein:increased expression:B cell (human)
DNA:snp:promoter:g.-938C>A (human)		 CTD
RGD		 PMID:21750559 PMID:23770605 PMID:17296974 PMID:20001236 PMID:17959858 More... RGD:11522735, RGD:11526110, RGD:11526105, RGD:11526104 NCBI chr13:22,689,783...22,853,920
Ensembl chr13:22,684,989...22,853,743
Ensembl chr13:22,684,989...22,853,743 		JBrowse link
G Bmf Bcl2 modifying factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:23770605 NCBI chr 3:105,499,534...105,520,159
Ensembl chr 3:105,499,538...105,520,145 		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 4:68,375,484...68,510,652
Ensembl chr 4:68,384,649...68,510,463 		JBrowse link
G Btk Bruton tyrosine kinase treatment ISO ClinVar Annotator: match by term: B-cell chronic lymphocytic leukemia ClinVar
RGD		 PMID:24869598 PMID:25741868 PMID:28492532 PMID:23045577 RGD:11040699 NCBI chr  X:97,722,796...97,762,315
Ensembl chr  X:97,722,802...97,761,853 		JBrowse link
G Cbl Cbl proto-oncogene severity ISO mRNA,protein:increased expression:CD5+ B cell:
DNA:hypophosphorylation:CD5+ B cell:		 RGD PMID:17804547 PMID:17804547 RGD:11038803, RGD:11038803 NCBI chr 8:44,487,824...44,571,620
Ensembl chr 8:44,489,410...44,571,176 		JBrowse link
G Ccdc50 coiled-coil domain containing 50 ISO RGD PMID:19641524 RGD:9685139 NCBI chr11:73,332,798...73,395,333
Ensembl chr11:73,334,248...73,395,150 		JBrowse link
G Cd40 CD40 molecule ISO RGD PMID:20616215 RGD:5490532 NCBI chr 3:153,790,372...153,805,279
Ensembl chr 3:153,790,449...153,805,534 		JBrowse link
G Cd40lg CD40 ligand ISO mouse-human chimeric gene in human RGD PMID:20882050 RGD:11352235 NCBI chr  X:135,127,052...135,138,768
Ensembl chr  X:135,126,969...135,138,306 		JBrowse link
G Cd5 Cd5 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:18006695 NCBI chr 1:207,365,337...207,386,313
Ensembl chr 1:207,365,337...207,386,313 		JBrowse link
G Cd79b CD79b molecule ISO protein:decreased expression:B lymphocyte, cell surface (human)
DNA:polymorphism:multiple (human)
mRNA, protein:splice variants, alternative forms:exon 3 (human)		 RGD PMID:9269755 PMID:10552962 PMID:10090943 RGD:11250403, RGD:151665202, RGD:151665190 NCBI chr10:91,239,354...91,242,500
Ensembl chr10:91,239,356...91,242,625 		JBrowse link
G Cd86 CD86 molecule severity ISO protein:increased expression:peripheral blood mononuclear cell (human) RGD PMID:25179679 RGD:11354969 NCBI chr11:64,142,193...64,200,816
Ensembl chr11:64,163,828...64,200,818 		JBrowse link
G Cpeb1 cytoplasmic polyadenylation element binding protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20062064 NCBI chr 1:135,300,048...135,407,688
Ensembl chr 1:135,300,461...135,409,760 		JBrowse link
G Ctla4 cytotoxic T-lymphocyte-associated protein 4 ISO protein:increased expression:T cell RGD PMID:16094420 PMID:15914560 RGD:11344923, RGD:11352246 NCBI chr 9:62,318,874...62,325,978
Ensembl chr 9:62,319,312...62,324,963 		JBrowse link
G Dkc1 dyskerin pseudouridine synthase 1 ISO RGD PMID:18077792 RGD:11251735
G Dnmt3b DNA methyltransferase 3 beta ISO mRNA:decreased expression: B cell RGD PMID:15467427 RGD:9589146 NCBI chr 3:142,130,588...142,169,128
Ensembl chr 3:142,130,592...142,169,124 		JBrowse link
G Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit severity ISO DNA:SNP: :p.K751Q (rs13181) (human) RGD PMID:22739018 PMID:19484764 RGD:11252203, RGD:11252204 NCBI chr 1:79,033,342...79,047,102
Ensembl chr 1:79,033,326...79,047,102 		JBrowse link
G Farp2 FERM, ARH/RhoGEF and pleckstrin domain protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20062064 NCBI chr 9:94,053,650...94,161,982
Ensembl chr 9:94,053,726...94,162,212 		JBrowse link
G Fas Fas cell surface death receptor disease_progression ISO RGD PMID:12901972 RGD:11049461 NCBI chr 1:231,798,963...231,832,591
Ensembl chr 1:231,798,960...231,832,591 		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 2:170,149,706...170,311,536
Ensembl chr 2:170,149,694...170,309,941 		JBrowse link
G Fcgr3a Fc gamma receptor 3A no_association ISO DNA:SNP:exon:p.F158V (rs396991) (human) RGD PMID:14563637 RGD:11352260 NCBI chr13:83,249,905...83,259,921
Ensembl chr13:83,249,872...83,259,921 		JBrowse link
G Gnas GNAS complex locus disease_progression ISO DNA:polymorphism:393T>C (human) RGD PMID:17020971 RGD:1601379 NCBI chr 3:163,071,003...163,136,350
Ensembl chr 3:163,071,417...163,127,262
Ensembl chr 3:163,071,417...163,127,262 		JBrowse link
G Hras HRas proto-oncogene, GTPase ISO ClinVar Annotator: match by term: B-cell chronic lymphocytic leukemia | ClinVar Annotator: match by term: Leukemia, B-cell, chronic ClinVar PMID:12835555 PMID:16329078 PMID:16372351 PMID:16835863 PMID:17211612 More... NCBI chr 1:196,290,127...196,299,823
Ensembl chr 1:196,296,263...196,300,615 		JBrowse link
G Icam1 intercellular adhesion molecule 1 severity ISO RGD PMID:7658704 RGD:11354983 NCBI chr 8:19,553,063...19,565,438
Ensembl chr 8:19,553,645...19,565,438 		JBrowse link
G Ifng interferon gamma susceptibility ISO DNA:polymorphism: :847A>T(human) RGD PMID:19757192 RGD:10755703 NCBI chr 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375 		JBrowse link
G Il10 interleukin 10 disease_progression
no_association		 ISO protein:increased expression:serum
DNA:SNPs: :multiple
DNA:SNPs: :rs1800890, rs4072227, rs17015865 (human)		 RGD PMID:22945689 PMID:10638947 PMID:19573080 PMID:19573080 RGD:11041895, RGD:11049174, RGD:11049165, RGD:11049165 NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313 		JBrowse link
G Il19 interleukin 19 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18006695 NCBI chr13:42,397,715...42,411,637
Ensembl chr13:42,399,138...42,405,473 		JBrowse link
G Il1a interleukin 1 alpha ISO RGD PMID:19074885 RGD:11051968 NCBI chr 3:116,526,601...116,537,055
Ensembl chr 3:116,526,604...116,536,822 		JBrowse link
G Il1b interleukin 1 beta severity ISO DNA:SNP:promoter:-511C>T (human)
protein:decreased expression:plasma:		 RGD PMID:18271063 PMID:10870116 RGD:11051967, RGD:11522755 NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415 		JBrowse link
G Il1rn interleukin 1 receptor antagonist ISO protein:decreased expression:plasma: RGD PMID:10870116 RGD:11522755 NCBI chr 3:7,111,567...7,127,451
Ensembl chr 3:7,111,550...7,127,445 		JBrowse link
G Il6 interleukin 6 ISO protein:increased expression:plasma:
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:18006695 PMID:10870116 RGD:11522755 NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178 		JBrowse link
G Irf4 interferon regulatory factor 4 disease_progression ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:18758461 PMID:12393648 PMID:12079517 RGD:11526160, RGD:11530024 NCBI chr17:33,721,800...33,742,570
Ensembl chr17:33,721,811...33,740,070 		JBrowse link
G Itga4 integrin subunit alpha 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21093051 NCBI chr 3:64,162,764...64,235,010
Ensembl chr 3:64,163,085...64,233,715 		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 chr 4:178,185,418...178,218,484 JBrowse link
G Lef1 lymphoid enhancer binding factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23770605 NCBI chr 2:219,666,549...219,779,815
Ensembl chr 2:219,666,592...219,779,794 		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 chr 1:196,299,843...196,315,170
Ensembl chr 1:196,299,846...196,315,172 		JBrowse link
G Mir143 microRNA 143 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17892514 NCBI chr18:55,101,006...55,101,110
Ensembl chr18:55,101,006...55,101,110 		JBrowse link
G Mir145 microRNA 145 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17892514 NCBI chr18:55,099,640...55,099,727
Ensembl chr18:55,099,640...55,099,727 		JBrowse link
G Ms4a1 membrane spanning 4-domains A1 ISO RGD PMID:19911856 RGD:2316994 NCBI chr 1:207,906,370...207,927,028
Ensembl chr 1:207,906,374...207,918,512 		JBrowse link
G Mthfr methylenetetrahydrofolate reductase ISO CTD Direct Evidence: marker/mechanism CTD PMID:16706930 NCBI chr 5:158,465,248...158,484,999
Ensembl chr 5:158,465,296...158,483,797 		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 8:119,074,439...119,078,508
Ensembl chr 8:119,074,437...119,079,415 		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 2:190,582,885...190,593,509
Ensembl chr 2:190,582,918...190,591,626 		JBrowse link
G P2rx7 purinergic receptor P2X 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11003599 NCBI chr12:33,889,709...33,934,168
Ensembl chr12:33,879,745...33,934,619 		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 chr10:91,590,521...91,652,279
Ensembl chr10:91,590,521...91,652,116 		JBrowse link
G Plcg2 phospholipase C, gamma 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: B-cell chronic lymphocytic leukemia		 CTD
ClinVar		 PMID:24869598 PMID:27542411 PMID:28492532 NCBI chr19:45,547,416...45,683,930
Ensembl chr19:45,547,416...45,683,930 		JBrowse link
G Pmaip1 phorbol-12-myristate-13-acetate-induced protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23770605 NCBI chr18:59,986,020...59,992,434
Ensembl chr18:59,986,017...59,992,429 		JBrowse link
G Polb DNA polymerase beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:18006695 NCBI chr16:69,379,438...69,402,710
Ensembl chr16:69,379,400...69,404,812 		JBrowse link
G Ppp2r5c protein phosphatase 2, regulatory subunit B', gamma ISO CTD Direct Evidence: marker/mechanism CTD PMID:16038780 NCBI chr 6:129,461,689...129,598,344
Ensembl chr 6:129,461,648...129,598,346 		JBrowse link
G Pramex1 PRAME like, X-linked 1 ISO protein:increased expression:mononuclear cell (human) RGD PMID:16620968 RGD:11535021 NCBI chr  X:98,567,994...98,574,654
Ensembl chr  X:98,569,415...98,572,096 		JBrowse link
G Prkd2 protein kinase D2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18758461 NCBI chr 1:77,513,625...77,542,386
Ensembl chr 1:77,513,986...77,542,376 		JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16314473 NCBI chr13:62,163,936...62,172,193
Ensembl chr13:62,163,932...62,172,188 		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 chr12:35,365,436...35,424,925
Ensembl chr12:35,383,144...35,424,925 		JBrowse link
G Qpct glutaminyl-peptide cyclotransferase ISO CTD Direct Evidence: marker/mechanism CTD PMID:23770605 NCBI chr 6:15,964,656...15,996,730
Ensembl chr 6:15,964,657...15,996,711 		JBrowse link
G Rbl2 RB transcriptional corepressor like 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16038780 NCBI chr19:15,876,852...15,923,632
Ensembl chr19:15,876,853...15,923,572 		JBrowse link
G Sf3b1 splicing factor 3b, subunit 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: B-cell chronic lymphocytic leukemia | ClinVar Annotator: match by term: Leukemia, B-cell, chronic		 CTD
ClinVar		 PMID:22158541 PMID:23634996 PMID:25741868 PMID:26619011 NCBI chr 9:56,492,403...56,532,300
Ensembl chr 9:56,492,403...56,532,300 		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 chr 1:202,570,423...202,590,774
Ensembl chr 1:202,570,423...202,590,759 		JBrowse link
G Sp140 SP140 nuclear body protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:18758461 NCBI chr 9:86,224,472...86,274,724
Ensembl chr 9:86,224,513...86,274,542 		JBrowse link
G Tert telomerase reverse transcriptase disease_progression ISO RGD PMID:17344921 RGD:11038662 NCBI chr 1:29,637,213...29,659,561
Ensembl chr 1:29,637,506...29,659,561 		JBrowse link
G Tfrc transferrin receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:16904380 NCBI chr11:68,163,413...68,185,257
Ensembl chr11:68,163,413...68,185,257 		JBrowse link
G Thbd thrombomodulin ISO RGD PMID:21812019 RGD:5685033 NCBI chr 3:135,863,366...135,867,018
Ensembl chr 3:135,862,835...135,867,193 		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 chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629 		JBrowse link
G Tnfrsf10b TNF receptor superfamily member 10b susceptibility ISO DNA:missense mutation:cds:p.E228A (c.683A>C) (human)
DNA:SNP: :1322A>G (human)		 RGD PMID:16217763 PMID:15531454 RGD:11038717, RGD:11038718 NCBI chr15:44,840,386...44,868,318
Ensembl chr15:44,840,386...44,867,467 		JBrowse link
G Tnfrsf11a TNF receptor superfamily member 11A ISO CTD Direct Evidence: marker/mechanism CTD PMID:16270354 NCBI chr13:21,928,370...21,986,719
Ensembl chr13:21,928,408...21,986,695 		JBrowse link
G Tnfsf11 TNF superfamily member 11 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16270354 NCBI chr15:53,673,850...53,705,325
Ensembl chr15:53,673,877...53,705,445 		JBrowse link
G Tnfsf13 TNF superfamily member 13 ISO protein:increased expression:serum RGD PMID:15488762 RGD:1549466 NCBI chr10:54,400,054...54,403,723
Ensembl chr10:54,400,065...54,403,042 		JBrowse link
G Tnfsf8 TNF superfamily member 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9058727 NCBI chr 5:77,250,942...77,277,364
Ensembl chr 5:77,251,373...77,277,421 		JBrowse link
G Topbp1 DNA topoisomerase II binding protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18006695 NCBI chr 8:103,887,805...103,931,662
Ensembl chr 8:103,887,865...103,931,674 		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
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
RGD		 PMID:253702 PMID:1359493 PMID:1565143 PMID:1565144 PMID:1631137 More... RGD:11075074 NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524 		JBrowse link
G Vdr vitamin D receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:12446453 NCBI chr 7:128,987,981...129,037,677
Ensembl chr 7:128,987,981...129,037,677 		JBrowse link
G Xpo1 exportin 1 ISO ClinVar Annotator: match by term: Leukemia, B-cell, chronic ClinVar PMID:26619011 NCBI chr14:97,233,282...97,275,536
Ensembl chr14:97,233,270...97,275,498 		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 PMID:19484764 RGD:11252204, RGD:11252204 NCBI chr 1:80,140,495...80,168,705
Ensembl chr 1:80,141,207...80,168,701 		JBrowse link
B-CELL EXPANSION WITH NFKB AND T-CELL ANERGY term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Card11 caspase recruitment domain family, member 11 ISO ClinVar Annotator: match by term: B-cell expansion with NFKB and T-cell anergy
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:17576681 PMID:18323416 PMID:23027925 PMID:23129749 More... NCBI chr12:13,621,140...13,758,115
Ensembl chr12:13,621,087...13,758,112 		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 susceptibility ISO DNA:SNP: :rs6857600(human) RGD PMID:21918980 RGD:11080977 NCBI chr 4:87,676,241...87,802,757
Ensembl chr 4:87,745,319...87,802,409 		JBrowse link
G Aicda activation-induced cytidine deaminase ISO RGD PMID:17251349 RGD:11039449 NCBI chr 4:155,774,132...155,783,972
Ensembl chr 4:155,774,132...155,783,972 		JBrowse link
G Bcl2l2 Bcl2-like 2 disease_progression ISO RGD PMID:28094768 RGD:14394511 NCBI chr15:28,346,449...28,361,627
Ensembl chr15:28,356,807...28,361,624 		JBrowse link
G Bcl6 BCL6, transcription repressor ISO diffuse large B-cell lymphoma RGD PMID:11821949 RGD:1600111 NCBI chr11:76,854,090...76,877,389
Ensembl chr11:76,854,090...76,877,389 		JBrowse link
G Brd2 bromodomain containing 2 ISO RGD PMID:14563639 RGD:9586345 NCBI chr20:4,727,078...4,735,389
Ensembl chr20:4,728,151...4,735,388 		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:97,722,796...97,762,315
Ensembl chr  X:97,722,802...97,761,853 		JBrowse link
G Cbx7 chromobox 7 ISO RGD PMID:17374722 RGD:11352707 NCBI chr 7:111,460,656...111,479,231
Ensembl chr 7:111,460,656...111,477,973 		JBrowse link
G Cd40 CD40 molecule ISO RGD PMID:20616215 RGD:5490532 NCBI chr 3:153,790,372...153,805,279
Ensembl chr 3:153,790,449...153,805,534 		JBrowse link
G Csf2 colony stimulating factor 2 treatment ISO RGD PMID:8469286 RGD:10450244 NCBI chr10:38,386,945...38,388,926
Ensembl chr10:38,386,945...38,389,199 		JBrowse link
G Csf3 colony stimulating factor 3 ISO CTD Direct Evidence: therapeutic CTD PMID:11042651 NCBI chr10:83,660,787...83,664,569
Ensembl chr10:83,661,207...83,663,603 		JBrowse link
G Eaf2 ELL associated factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20564326 NCBI chr11:63,960,200...64,004,610
Ensembl chr11:63,960,200...64,004,610 		JBrowse link
G Ezh2 enhancer of zeste 2 polycomb repressive complex 2 subunit severity
treatment		 ISO
ISS		 MouseDO
RGD		 PMID:23982173 PMID:29456795 RGD:10755356, RGD:126781726 NCBI chr 4:76,624,399...76,687,362
Ensembl chr 4:76,624,399...76,687,362 		JBrowse link
G Il21r interleukin 21 receptor ISO diffuse large B-cell lymphoma RGD PMID:11821949 RGD:1600111 NCBI chr 1:180,168,028...180,195,690
Ensembl chr 1:180,168,097...180,195,522 		JBrowse link
G Jak3 Janus kinase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24837469 NCBI chr16:18,386,330...18,398,542
Ensembl chr16:18,386,405...18,398,536 		JBrowse link
G Kat5 lysine acetyltransferase 5 severity ISO RGD PMID:17728759 RGD:9588481 NCBI chr 1:202,895,751...202,903,178
Ensembl chr 1:202,895,751...202,903,458 		JBrowse link
G Lgals1 galectin 1 IEP protein:increased expression:primary tumor (rat) RGD PMID:16733672 RGD:2316550 NCBI chr 7:110,485,239...110,488,345
Ensembl chr 7:110,481,392...110,488,345 		JBrowse link
G Mir143 microRNA 143 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17892514 NCBI chr18:55,101,006...55,101,110
Ensembl chr18:55,101,006...55,101,110 		JBrowse link
G Mir145 microRNA 145 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17892514 NCBI chr18:55,099,640...55,099,727
Ensembl chr18:55,099,640...55,099,727 		JBrowse link
G Nras NRAS proto-oncogene, GTPase ISO CTD Direct Evidence: marker/mechanism CTD PMID:14633661 NCBI chr 2:190,582,885...190,593,509
Ensembl chr 2:190,582,918...190,591,626 		JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:14654083 NCBI chr13:62,163,936...62,172,193
Ensembl chr13:62,163,932...62,172,188 		JBrowse link
G Ptpn1 protein tyrosine phosphatase, non-receptor type 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24531327 NCBI chr 3:156,638,811...156,687,503
Ensembl chr 3:156,638,769...156,687,504 		JBrowse link
G Stat5a signal transducer and activator of transcription 5A ISO RGD PMID:27018255 RGD:151665817 NCBI chr10:85,785,537...85,809,869
Ensembl chr10:85,785,537...85,809,866 		JBrowse link
G Tnfsf8 TNF superfamily member 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9058727 NCBI chr 5:77,250,942...77,277,364
Ensembl chr 5:77,251,373...77,277,421 		JBrowse link
G Tnfsf9 TNF superfamily member 9 ISO RGD PMID:10202049 RGD:2317349 NCBI chr 9:1,944,017...1,946,351
Ensembl chr 9:1,944,017...1,946,345 		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 3:14,979,853...15,083,065
Ensembl chr 3:14,979,853...15,083,065 		JBrowse link
G Ahr aryl hydrocarbon receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:35687267 NCBI chr 6:52,234,089...52,271,568
Ensembl chr 6:52,234,089...52,271,568 		JBrowse link
G Akr1c3 aldo-keto reductase family 1, member C3 treatment ISO RGD PMID:26116659 RGD:11541128 NCBI chr17:66,110,970...66,127,867
Ensembl chr17:66,110,963...66,127,873 		JBrowse link
G Atf7ip activating transcription factor 7 interacting protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:24413735 NCBI chr 4:169,385,872...169,471,652
Ensembl chr 4:169,385,872...169,471,650 		JBrowse link
G Bcl2l1 Bcl2-like 1 severity ISO RGD PMID:18216295 RGD:11531108 NCBI chr 3:141,253,508...141,304,582
Ensembl chr 3:141,253,523...141,303,479 		JBrowse link
G Bcr BCR activator of RhoGEF and GTPase ISO BCR/ABL fusion RGD PMID:9310467 RGD:41404633 NCBI chr20:13,469,325...13,596,942
Ensembl chr20:13,471,668...13,597,016 		JBrowse link
G Brd2 bromodomain containing 2 ISO RGD PMID:14563639 RGD:9586345 NCBI chr20:4,727,078...4,735,389
Ensembl chr20:4,728,151...4,735,388 		JBrowse link
G Ccn2 cellular communication network factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24154679 NCBI chr 1:20,802,199...20,805,315
Ensembl chr 1:20,802,199...20,805,734 		JBrowse link
G Ccnd1 cyclin D1 ISO mRNA:increased expression:B cell (mouse) RGD PMID:23169640 RGD:11353783 NCBI chr 1:200,089,002...200,098,524
Ensembl chr 1:200,089,002...200,098,602 		JBrowse link
G Cdkn2a cyclin-dependent kinase inhibitor 2A treatment
susceptibility		 ISO DNA:mutation:cds:c.442C>T,p.A148T,rs3731249 (human) RGD PMID:16618932 PMID:26104880 PMID:21622646 RGD:11251751, RGD:11057958, RGD:11251772 NCBI chr 5:103,984,949...103,992,143
Ensembl chr 5:103,984,949...104,003,149 		JBrowse link
G Cdkn2a_v2 cyclin-dependent kinase inhibitor 2A, variant 2 treatment ISO RGD PMID:21622646 PMID:16618932 RGD:11251772, RGD:11251751
G Crlf2 cytokine receptor-like factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24141364 NCBI chr14:103,943...108,643
Ensembl chr14:103,939...108,642 		JBrowse link
G Cyp3a9 cytochrome P450, family 3, subfamily a, polypeptide 9 treatment ISO DNA:polymorphisms: : RGD PMID:21225912 RGD:11353807 NCBI chr12:16,806,222...16,846,428
Ensembl chr12:16,806,207...16,846,422 		JBrowse link
G Dux4 double homeobox 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27019113 NCBI chr16:1,558,430...1,570,045
Ensembl chr16:1,558,766...1,568,565 		JBrowse link
G Etv6 ETS variant transcription factor 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15217836 PMID:24413735 PMID:25807284 NCBI chr 4:166,849,031...167,085,211
Ensembl chr 4:166,847,686...167,084,992 		JBrowse link
G F13a1 coagulation factor XIII A1 chain ISO protein:increased expression:B lymphoblast: RGD PMID:16894461 RGD:11041855 NCBI chr17:27,815,723...27,992,494
Ensembl chr17:27,815,702...27,992,700 		JBrowse link
G F3 coagulation factor III, tissue factor treatment ISO RGD PMID:19874310 RGD:11341694 NCBI chr 2:209,827,061...209,838,666
Ensembl chr 2:209,826,959...209,838,668 		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 chr13:87,524,331...87,550,215
Ensembl chr13:87,524,337...87,550,266 		JBrowse link
G Flt3 Fms related receptor tyrosine kinase 3 ISO mRNA,protein:increased expression:bone marrow: RGD PMID:8562934 RGD:11049466 NCBI chr12:7,623,930...7,699,474
Ensembl chr12:7,623,930...7,699,474 		JBrowse link
G Gata3 GATA binding protein 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24141364 NCBI chr17:68,643,760...68,666,000
Ensembl chr17:68,643,873...68,665,391 		JBrowse link
G Ido1 indoleamine 2,3-dioxygenase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:35687267 NCBI chr16:67,430,654...67,442,726
Ensembl chr16:67,430,578...67,442,730 		JBrowse link
G Ikzf1 IKAROS family zinc finger 1 disease_progression ISO DNA:mutations: :
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:24141364 PMID:22699455 RGD:11075072 NCBI chr14:86,255,065...86,340,839
Ensembl chr14:86,255,065...86,342,416 		JBrowse link
G Il5 interleukin 5 ISO RGD PMID:15368290 RGD:7241068 NCBI chr10:37,874,342...37,877,213
Ensembl chr10:37,874,342...37,877,213 		JBrowse link
G Irf4 interferon regulatory factor 4 ISO RGD PMID:25006123 PMID:20585039 PMID:21818355 RGD:11526159, RGD:11530030, RGD:11530020 NCBI chr17:33,721,800...33,742,570
Ensembl chr17:33,721,811...33,740,070 		JBrowse link
G Irf8 interferon regulatory factor 8 ISO RGD PMID:20585039 RGD:11530030 NCBI chr19:48,790,581...48,812,363
Ensembl chr19:48,790,588...48,811,829 		JBrowse link
G Isx intestine-specific homeobox ISO CTD Direct Evidence: marker/mechanism CTD PMID:35687267 NCBI chr19:13,217,637...13,239,754
Ensembl chr19:13,218,552...13,239,760 		JBrowse link
G Mga MAX dimerization protein MGA ISO CTD Direct Evidence: marker/mechanism CTD PMID:24413735 NCBI chr 3:106,851,216...106,942,908
Ensembl chr 3:106,851,140...106,941,043 		JBrowse link
G Myb MYB proto-oncogene, transcription factor disease_progression ISO mRNA:splice variants:cds: RGD PMID:21853052 RGD:11532669 NCBI chr 1:15,939,771...15,973,367
Ensembl chr 1:15,939,761...15,973,057 		JBrowse link
G Myc MYC proto-oncogene, bHLH transcription factor ISO RGD PMID:22120021 RGD:7207416 NCBI chr 7:93,593,705...93,598,633
Ensembl chr 7:93,593,705...93,598,630 		JBrowse link
G Pax5 paired box 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24013638 PMID:30643249 NCBI chr 5:58,763,334...58,945,719
Ensembl chr 5:58,765,036...58,944,326 		JBrowse link
G Pdgfra platelet derived growth factor receptor alpha treatment ISO RGD PMID:22447844 RGD:11075097 NCBI chr14:33,005,838...33,054,347
Ensembl chr14:33,005,839...33,054,335 		JBrowse link
G Rb1 RB transcriptional corepressor 1 ISO ClinVar Annotator: match by term: B Lymphoblastic Leukemia/Lymphoma, Not Otherwise Specified ClinVar PMID:25741868 PMID:28492532 NCBI chr15:48,371,295...48,502,473
Ensembl chr15:48,371,296...48,502,302 		JBrowse link
G Runx1 RUNX family transcription factor 1 onset ISO DNA:amplification
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:15217836 PMID:24413735 PMID:21822204 RGD:6482828 NCBI chr11:31,839,880...32,074,427
Ensembl chr11:31,843,764...32,074,542 		JBrowse link
G Stat3 signal transducer and activator of transcription 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19796711 NCBI chr10:85,811,206...85,863,057
Ensembl chr10:85,811,218...85,863,057 		JBrowse link
G Stat5a signal transducer and activator of transcription 5A ISO protein:increased phosphorylation:bone marrow (human) RGD PMID:27018255 RGD:151665817 NCBI chr10:85,785,537...85,809,869
Ensembl chr10:85,785,537...85,809,866 		JBrowse link
G Stk11 serine/threonine kinase 11 ISO ClinVar Annotator: match by term: B Lymphoblastic Leukemia/Lymphoma, Not Otherwise Specified ClinVar PMID:25741868 PMID:26080840 PMID:26295973 PMID:28492532 NCBI chr 7:9,574,553...9,591,315
Ensembl chr 7:9,575,269...9,591,315 		JBrowse link
G Sufu SUFU negative regulator of hedgehog signaling ISO ClinVar Annotator: match by term: B Lymphoblastic Leukemia/Lymphoma, Not Otherwise Specified ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:245,257,725...245,355,576
Ensembl chr 1:245,257,768...245,355,577 		JBrowse link
G Tcf3 transcription factor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19246562 NCBI chr 7:9,280,571...9,302,315
Ensembl chr 7:9,280,571...9,302,314 		JBrowse link
G Tdo2 tryptophan 2,3-dioxygenase ISO CTD Direct Evidence: marker/mechanism CTD PMID:35687267 NCBI chr 2:167,269,581...167,287,511
Ensembl chr 2:167,269,579...167,287,511 		JBrowse link
G Tfpi tissue factor pathway inhibitor treatment ISO RGD PMID:19874310 RGD:11341694 NCBI chr 3:69,533,156...69,582,547
Ensembl chr 3:69,533,156...69,576,880 		JBrowse link
G Tnfsf13 TNF superfamily member 13 ISO RGD PMID:15488762 RGD:1549466 NCBI chr10:54,400,054...54,403,723
Ensembl chr10:54,400,065...54,403,042 		JBrowse link
G Tnfsf8 TNF superfamily member 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9058727 NCBI chr 5:77,250,942...77,277,364
Ensembl chr 5:77,251,373...77,277,421 		JBrowse link
G Tp53 tumor protein p53 disease_progression ISO DNA:mutations: : RGD PMID:22699455 RGD:11075072 NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524 		JBrowse link
G Wt1 WT1 transcription factor ISO ClinVar Annotator: match by term: Pre-B-cell acute lymphoblastic leukemia ClinVar PMID:8621495 PMID:12640141 PMID:16987884 PMID:25741868 PMID:28492532 More... NCBI chr 3:91,566,540...91,613,653
Ensembl chr 3:91,567,001...91,613,643 		JBrowse link
B-lymphoblastic leukemia/lymphoma with BCR-ABL1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Msh6 mutS homolog 6 ISO ClinVar Annotator: match by term: B Lymphoblastic Leukemia/Lymphoma with t(9;22)(q34.1;q11.2); BCR-ABL1 ClinVar PMID:22658618 PMID:25741868 PMID:28492532 NCBI chr 6:6,562,631...6,579,995
Ensembl chr 6:6,562,632...6,579,956 		JBrowse link
B-lymphoblastic leukemia/lymphoma with ETV6-RUNX1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bmpr1a bone morphogenetic protein receptor type 1A ISO ClinVar Annotator: match by term: B Lymphoblastic Leukemia/Lymphoma with t(12;21)(p13.2;q22.1); ETV6-RUNX1 ClinVar PMID:25741868 PMID:28492532 PMID:30093976 NCBI chr16:9,736,390...9,829,825
Ensembl chr16:9,736,630...9,780,616 		JBrowse link
G Palb2 partner and localizer of BRCA2 ISO ClinVar Annotator: match by term: B Lymphoblastic Leukemia/Lymphoma with t(12;21)(p13.2;q22.1); ETV6-RUNX1 ClinVar PMID:25741868 PMID:28492532 PMID:33471991 NCBI chr 1:176,665,076...176,689,053
Ensembl chr 1:176,665,076...176,688,990 		JBrowse link
G Rb1 RB transcriptional corepressor 1 ISO ClinVar Annotator: match by term: B Lymphoblastic Leukemia/Lymphoma with t(12;21)(p13.2;q22.1); ETV6-RUNX1 ClinVar PMID:25741868 PMID:28492532 NCBI chr15:48,371,295...48,502,473
Ensembl chr15:48,371,296...48,502,302 		JBrowse link
G Recql4 RecQ like helicase 4 ISO ClinVar Annotator: match by term: B Lymphoblastic Leukemia/Lymphoma with t(12;21)(p13.2;q22.1); ETV6-RUNX1 ClinVar PMID:10678659 PMID:12734318 PMID:12838562 PMID:12952869 PMID:15897384 More... NCBI chr 7:108,423,453...108,430,790
Ensembl chr 7:108,423,455...108,430,619 		JBrowse link
B-lymphoblastic leukemia/lymphoma with hyperdiploidy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cbl Cbl proto-oncogene ISO ClinVar Annotator: match by term: B lymphoblastic leukemia lymphoma with hyperdiploidy ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 8:44,487,824...44,571,620
Ensembl chr 8:44,489,410...44,571,176 		JBrowse link
B-lymphoblastic leukemia/lymphoma with hypodiploidy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sdha succinate dehydrogenase complex flavoprotein subunit A ISO ClinVar Annotator: match by term: B-lymphoblastic leukemia/lymphoma with hypodiploidy ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:28,935,965...28,960,936
Ensembl chr 1:28,940,164...28,961,535 		JBrowse link
Burkitt lymphoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G A4galt alpha 1,4-galactosyltransferase ISO CTD Direct Evidence: marker/mechanism CTD PMID:11482875 NCBI chr 7:114,368,525...114,392,872
Ensembl chr 7:114,368,276...114,396,071 		JBrowse link
G Arid1a AT-rich interaction domain 1A ISO CTD Direct Evidence: marker/mechanism CTD PMID:23143597 NCBI chr 5:145,908,173...145,981,552
Ensembl chr 5:145,908,181...145,985,564 		JBrowse link
G Bbc3 Bcl-2 binding component 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18573879 NCBI chr 1:77,013,281...77,022,509
Ensembl chr 1:77,014,543...77,022,509 		JBrowse link
G Bcl2l2 Bcl2-like 2 ISO mRNA:increased expression:lymph node RGD PMID:28094768 RGD:14394511 NCBI chr15:28,346,449...28,361,627
Ensembl chr15:28,356,807...28,361,624 		JBrowse link
G Brca1 BRCA1, DNA repair associated ISO ClinVar Annotator: match by term: Burkitt lymphoma ClinVar PMID:17262179 PMID:25741868 PMID:26467025 PMID:28492532 PMID:31911673 More... NCBI chr10:86,417,441...86,477,762
Ensembl chr10:86,418,000...86,477,304 		JBrowse link
G Btk Bruton tyrosine kinase ameliorates
treatment		 ISO Human cell line in a mouse model
mRNA:increased expression:multiple (human)		 RGD PMID:28474336 PMID:30546948 RGD:124713565, RGD:124715474 NCBI chr  X:97,722,796...97,762,315
Ensembl chr  X:97,722,802...97,761,853 		JBrowse link
G Calr calreticulin treatment ISO human cells and recombinant protein in a mouse model
human cell line and recombinant protein in a mouse model		 RGD PMID:9858521 PMID:10961892 RGD:150521687, RGD:150521702 NCBI chr19:23,308,525...23,313,420
Ensembl chr19:23,308,351...23,313,414 		JBrowse link
G Cct6b chaperonin containing TCP1 subunit 6B ISO CTD Direct Evidence: marker/mechanism CTD PMID:23143597 NCBI chr10:67,652,461...67,701,385
Ensembl chr10:67,652,546...67,701,284 		JBrowse link
G Cd40 CD40 molecule treatment ISO human cell line in a mouse model RGD PMID:9192773 RGD:11520790 NCBI chr 3:153,790,372...153,805,279
Ensembl chr 3:153,790,449...153,805,534 		JBrowse link
G Cd79b CD79b molecule treatment ISO human cells in mouse model RGD PMID:17374736 RGD:151665154 NCBI chr10:91,239,354...91,242,500
Ensembl chr10:91,239,356...91,242,625 		JBrowse link
G Ftcd formimidoyltransferase cyclodeaminase ISO CTD Direct Evidence: marker/mechanism CTD PMID:23143597 NCBI chr20:12,055,203...12,068,717
Ensembl chr20:12,055,208...12,068,735 		JBrowse link
G Gna13 G protein subunit alpha 13 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23143597 NCBI chr10:94,337,939...94,370,774
Ensembl chr10:94,337,725...94,370,774 		JBrowse link
G Id3 inhibitor of DNA binding 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23143595 PMID:23143597 NCBI chr 5:148,372,784...148,374,353
Ensembl chr 5:148,372,762...148,374,349 		JBrowse link
G Mir21 microRNA 21 treatment ISO RGD PMID:27991481 RGD:41404643 NCBI chr10:71,405,257...71,405,348
Ensembl chr10:71,405,257...71,405,348 		JBrowse link
G Mir23b microRNA 23b treatment ISO RGD PMID:27991481 RGD:41404643 NCBI chr17:1,813,667...1,813,763
Ensembl chr17:1,813,667...1,813,763 		JBrowse link
G Mllt11 MLLT11, transcription factor 7 cofactor ISO CTD Direct Evidence: marker/mechanism CTD PMID:31587870 NCBI chr 2:182,795,790...182,804,960
Ensembl chr 2:182,795,790...182,797,199 		JBrowse link
G Myc MYC proto-oncogene, bHLH transcription factor ISO
ISS		 OMIM:113970
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Burkitt lymphoma
DNA:mutations:exons:multiple (human)		 MouseDO
CTD
ClinVar
OMIM
RGD		 PMID:8220424 PMID:25157968 PMID:27993330 PMID:8220424 PMID:8397370 RGD:1601453, RGD:10059619 NCBI chr 7:93,593,705...93,598,633
Ensembl chr 7:93,593,705...93,598,630 		JBrowse link
G Pbx1 PBX homeobox 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:1967982 PMID:17244677 NCBI chr13:80,278,766...80,588,563
Ensembl chr13:80,278,770...80,588,594 		JBrowse link
G Pc pyruvate carboxylase ISO CTD Direct Evidence: marker/mechanism CTD PMID:23143597 NCBI chr 1:201,799,374...201,898,412
Ensembl chr 1:201,804,267...201,898,380 		JBrowse link
G Pik3r1 phosphoinositide-3-kinase regulatory subunit 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23143597 NCBI chr 2:32,878,942...32,963,668
Ensembl chr 2:32,882,032...32,963,631 		JBrowse link
G Ret ret proto-oncogene ISO CTD Direct Evidence: marker/mechanism CTD PMID:23143597 NCBI chr 4:151,325,969...151,368,176
Ensembl chr 4:151,326,431...151,368,176 		JBrowse link
G Sall3 spalt-like transcription factor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23143597 NCBI chr18:74,406,066...74,425,974
Ensembl chr18:74,407,560...74,426,789 		JBrowse link
G Smarca4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23143597 NCBI chr 8:20,167,717...20,258,975
Ensembl chr 8:20,167,717...20,258,975 		JBrowse link
G Tcf3 transcription factor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:1967982 PMID:17244677 NCBI chr 7:9,280,571...9,302,315
Ensembl chr 7:9,280,571...9,302,314 		JBrowse link
Carrington Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccl2 C-C motif chemokine ligand 2 ISO protein:increased expression:alveolar system (human) RGD PMID:11488333 RGD:11528564 NCBI chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226 		JBrowse link
G Cxcl10 C-X-C motif chemokine ligand 10 ISO protein:increased expression:respiratory system fluid/secretion RGD PMID:15956791 RGD:5135443 NCBI chr14:15,704,772...15,706,969
Ensembl chr14:15,704,758...15,706,975 		JBrowse link
G Cxcl9 C-X-C motif chemokine ligand 9 ISO protein:increased expression:respiratory system fluid/secretion RGD PMID:15956791 RGD:5135443 NCBI chr14:15,722,868...15,727,779
Ensembl chr14:15,722,908...15,728,435 		JBrowse link
Cd4+ Lymphocyte Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Jak3 Janus kinase 3 ISO DNA:missense mutation:exon:p.C1066R (c.3196T>C) (human) RGD PMID:25205547 RGD:11531127 NCBI chr16:18,386,330...18,398,542
Ensembl chr16:18,386,405...18,398,536 		JBrowse link
Chediak-Higashi syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ap3b1 adaptor related protein complex 3 subunit beta 1 ISO ClinVar Annotator: match by term: Autoinflammatory syndrome ClinVar PMID:24033266 PMID:25741868 PMID:28492532 PMID:31898847 NCBI chr 2:25,600,069...25,800,937
Ensembl chr 2:25,600,040...25,800,935 		JBrowse link
G B3galnt2 beta-1,3-N-acetylgalactosaminyltransferase 2 ISO ClinVar Annotator: match by term: Chédiak-Higashi syndrome ClinVar PMID:28492532 NCBI chr17:51,334,921...51,377,469
Ensembl chr17:51,334,921...51,377,469 		JBrowse link
G Bloc1s6 biogenesis of lysosomal organelles complex 1 subunit 6 ISO ClinVar Annotator: match by term: Autoinflammatory syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:109,816,397...109,826,528
Ensembl chr 3:109,816,366...109,828,308 		JBrowse link
G Card14 caspase recruitment domain family, member 14 ISO ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndrome ClinVar PMID:9536098 PMID:17576681 PMID:22521419 PMID:24033266 PMID:24999592 More... NCBI chr10:104,572,059...104,601,606
Ensembl chr10:104,566,424...104,601,905 		JBrowse link
G Cd27 CD27 molecule ISO ClinVar Annotator: match by term: Autoinflammatory syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 4:158,030,700...158,035,862
Ensembl chr 4:158,030,703...158,035,592 		JBrowse link
G Elane elastase, neutrophil expressed ISO ClinVar Annotator: match by term: Autoinflammatory syndrome
ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndrome		 ClinVar PMID:10581030 PMID:11675333 PMID:19036076 PMID:23463630 PMID:25427142 More... NCBI chr 7:9,817,251...9,819,174
Ensembl chr 7:9,817,252...9,819,100 		JBrowse link
G Gng4 G protein subunit gamma 4 ISO ClinVar Annotator: match by term: Chédiak-Higashi syndrome ClinVar PMID:28492532 NCBI chr17:86,448,708...86,497,560
Ensembl chr17:86,449,022...86,495,254 		JBrowse link
G Il1rn interleukin 1 receptor antagonist ISO ClinVar Annotator: match by term: Autoinflammatory syndrome ClinVar PMID:12837270 PMID:16519819 PMID:19729864 PMID:20842532 PMID:21279638 More... NCBI chr 3:7,111,567...7,127,451
Ensembl chr 3:7,111,550...7,127,445 		JBrowse link
G Il36rn interleukin 36 receptor antagonist ISO ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndrome
ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndrome | ClinVar Annotator: match by term: LYST-related condition		 ClinVar PMID:6147717 PMID:9536098 PMID:17576681 PMID:21839423 PMID:22428995 More... NCBI chr 3:7,044,419...7,051,016
Ensembl chr 3:7,044,406...7,051,016 		JBrowse link
G Itk IL2-inducible T-cell kinase ISO ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndrome ClinVar PMID:9536098 PMID:17576681 PMID:22289921 PMID:25741868 PMID:28492532 NCBI chr10:30,753,344...30,814,685
Ensembl chr10:30,753,344...30,814,685 		JBrowse link
G Lpin2 lipin 2 ISO ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndrome ClinVar PMID:2809904 PMID:9536098 PMID:10969284 PMID:15994876 PMID:17576681 More... NCBI chr 9:111,083,378...111,158,193
Ensembl chr 9:111,083,745...111,158,193 		JBrowse link
G Lyst lysosomal trafficking regulator IAGP
ISO
ISS		 ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndrome | ClinVar Annotator: match by term: LYST-related condition
OMIM:214500
CTD Direct Evidence: marker/mechanism		 ClinVar
MouseDO
CTD
OMIM
RGD		 PMID:8717042 PMID:8751863 PMID:8896560 PMID:9215679 PMID:9215680 More... RGD:633300 NCBI chr17:86,241,384...86,443,501
Ensembl chr17:86,241,384...86,443,480 		JBrowse link
G Mefv MEFV innate immunity regulator, pyrin ISO ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndrome ClinVar PMID:5458961 PMID:7677151 PMID:9288094 PMID:9288758 PMID:9527614 More... NCBI chr10:11,786,948...11,796,977
Ensembl chr10:11,787,422...11,796,973 		JBrowse link
G Mmab metabolism of cobalamin associated B ISO ClinVar Annotator: match by term: Autoinflammatory syndrome ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr12:42,159,109...42,172,518
Ensembl chr12:42,159,089...42,172,490 		JBrowse link
G Mvk mevalonate kinase ISO ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndrome ClinVar PMID:1377680 PMID:10369261 PMID:10369262 PMID:10401001 PMID:10417275 More... NCBI chr12:42,141,391...42,158,893
Ensembl chr12:42,141,384...42,158,882 		JBrowse link
G Nlrc4 NLR family, CARD domain containing 4 ISO ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndrome ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 6:20,991,785...21,018,254
Ensembl chr 6:20,995,266...21,018,248 		JBrowse link
G Nlrp12 NLR family, pyrin domain containing 12 ISO ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chediak-Higashi Syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndrome
ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndrome		 ClinVar PMID:9536098 PMID:16199547 PMID:17576681 PMID:18230725 PMID:21360512 More... NCBI chr 1:65,932,610...65,969,873
Ensembl chr 1:65,932,595...65,960,934 		JBrowse link
G Nlrp3 NLR family, pyrin domain containing 3 ISO ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndrome ClinVar PMID:49161 PMID:447320 PMID:5173311 PMID:9536098 PMID:11687797 More... NCBI chr10:44,326,770...44,353,814
Ensembl chr10:44,328,566...44,352,811 		JBrowse link
G Nod2 nucleotide-binding oligomerization domain containing 2 ISO ClinVar Annotator: match by term: Autoinflammatory syndrome
ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndrome		 ClinVar PMID:9536098 PMID:11385576 PMID:11385577 PMID:11425413 PMID:11875755 More... NCBI chr19:18,382,369...18,422,817
Ensembl chr19:18,382,439...18,417,177 		JBrowse link
G Prf1 perforin 1 ISO ClinVar Annotator: match by term: Autoinflammatory syndrome
ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndrome		 ClinVar PMID:1156555 PMID:7851014 PMID:10583959 PMID:11179007 PMID:11565555 More... NCBI chr20:29,246,202...29,251,712
Ensembl chr20:29,246,202...29,251,701 		JBrowse link
G Psmb8 proteasome 20S subunit beta 8 ISO ClinVar Annotator: match by term: Autoinflammatory syndrome ClinVar PMID:24033266 PMID:25741868 PMID:26524591 PMID:28492532 NCBI chr20:4,652,159...4,655,122
Ensembl chr20:4,652,159...4,655,283 		JBrowse link
G Pstpip1 proline-serine-threonine phosphatase-interacting protein 1 ISO ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndrome ClinVar PMID:25741868 PMID:27577878 PMID:28492532 PMID:30290665 PMID:35482138 NCBI chr 8:56,499,287...56,538,593
Ensembl chr 8:56,499,590...56,538,580 		JBrowse link
G Rab27a RAB27A, member RAS oncogene family ISO ClinVar Annotator: match by term: Autoinflammatory syndrome ClinVar PMID:10835631 PMID:15475639 PMID:16199547 PMID:16278825 PMID:18397837 More... NCBI chr 8:73,782,730...73,836,630
Ensembl chr 8:73,782,694...73,847,829 		JBrowse link
G Scnn1a sodium channel epithelial 1 subunit alpha ISO ClinVar Annotator: match by term: Autoinflammatory syndrome ClinVar PMID:25741868 NCBI chr 4:158,122,962...158,146,184
Ensembl chr 4:158,122,962...158,146,181 		JBrowse link
G Sgsh N-sulfoglucosamine sulfohydrolase ISO ClinVar Annotator: match by term: Autoinflammatory syndrome ClinVar PMID:22521419 PMID:24033266 PMID:25741868 PMID:26203641 PMID:26255310 More... NCBI chr10:104,596,810...104,613,510
Ensembl chr10:104,598,112...104,613,486 		JBrowse link
G Sh2d1a SH2 domain containing 1A ISO ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndrome ClinVar PMID:9771704 PMID:11049992 PMID:15711562 PMID:22970278 PMID:25741868 More... NCBI chr  X:121,373,693...121,401,923 JBrowse link
G Slc7a7 solute carrier family 7 member 7 ISO ClinVar Annotator: match by term: Autoinflammatory syndrome ClinVar PMID:10631139 PMID:15776427 PMID:17530437 PMID:17764084 PMID:20301535 More... NCBI chr15:27,822,088...27,873,121
Ensembl chr15:27,822,091...27,865,648 		JBrowse link
G Sting1 stimulator of interferon response cGAMP interactor 1 ISO ClinVar Annotator: match by term: Autoinflammatory syndrome
ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndrome		 ClinVar PMID:9536098 PMID:17576681 PMID:25741868 PMID:28087229 PMID:28166811 More... NCBI chr18:27,332,119...27,338,371
Ensembl chr18:27,332,119...27,338,335 		JBrowse link
G Stx11 syntaxin 11 ISO ClinVar Annotator: match by term: Autoinflammatory syndrome ClinVar PMID:24524345 PMID:25741868 PMID:28492532 NCBI chr 1:7,293,427...7,320,060
Ensembl chr 1:7,289,976...7,320,164 		JBrowse link
G Stxbp2 syntaxin binding protein 2 ISO ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndrome ClinVar PMID:19804848 PMID:19884660 PMID:20558610 PMID:20798128 PMID:20823128 More... NCBI chr12:1,689,364...1,701,145
Ensembl chr12:1,689,410...1,700,458 		JBrowse link
G Tbce tubulin folding cofactor E ISO ClinVar Annotator: match by term: Chédiak-Higashi syndrome ClinVar PMID:28492532 NCBI chr17:51,290,143...51,336,090
Ensembl chr17:51,290,202...51,336,089 		JBrowse link
G Tnfrsf1a TNF receptor superfamily member 1A ISO ClinVar Annotator: match by term: Autoinflammatory syndrome
ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndrome		 ClinVar PMID:10199409 PMID:11443543 PMID:16508982 PMID:16635178 PMID:16684962 More... NCBI chr 4:158,150,815...158,163,592
Ensembl chr 4:158,150,820...158,163,591 		JBrowse link
G Unc13d unc-13 homolog D ISO ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndrome ClinVar PMID:9536098 PMID:10459864 PMID:14622600 PMID:15466010 PMID:16199547 More... NCBI chr10:101,296,755...101,311,513
Ensembl chr10:101,296,776...101,311,687 		JBrowse link
G Xiap X-linked inhibitor of apoptosis ISO ClinVar Annotator: match by term: Autoinflammatory syndrome ClinVar PMID:20517649 PMID:21119115 PMID:23944711 PMID:24033266 PMID:24616127 More... NCBI chr  X:120,890,537...120,938,413
Ensembl chr  X:120,897,907...120,934,700 		JBrowse link
Chemotherapy-Induced Febrile Neutropenia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ace angiotensin I converting enzyme severity ISO DNA:deletion:intron:IVS16+1464-1751del (human)
associated with acute leukemia;DNA:insertion/deletion:intron 16:		 RGD PMID:15806540 PMID:24819208 RGD:11038917, RGD:11530041 NCBI chr10:90,910,316...90,930,437
Ensembl chr10:90,910,316...90,931,131 		JBrowse link
G Cyp3a9 cytochrome P450, family 3, subfamily a, polypeptide 9 susceptibility ISO associated with breast neoplasm;DNA:polymorphism:splice junction:6986A>G (human) RGD PMID:19332043 RGD:11353804 NCBI chr12:16,806,222...16,846,428
Ensembl chr12:16,806,207...16,846,422 		JBrowse link
G Fcgr3a Fc gamma receptor 3A treatment ISO associated with Lymphoma, Large B-Cell, Diffuse;DNA:SNP: :rs396991 (human) RGD PMID:27282998 RGD:11344967 NCBI chr13:83,249,905...83,259,921
Ensembl chr13:83,249,872...83,259,921 		JBrowse link
G Gstp1 glutathione S-transferase pi 1 susceptibility ISO DNA:polymorphism: : rs1695(human) RGD PMID:25008867 RGD:10755412 NCBI chr 1:201,337,762...201,340,230
Ensembl chr 1:201,321,672...201,340,226 		JBrowse link
G Itpa inosine triphosphatase ISO associated with Precursor Cell Lymphoblastic Leukemia-Lymphoma;DNA:SNP: :rs41320251 (human) RGD PMID:18685564 RGD:10766478 NCBI chr 3:117,885,464...117,897,247
Ensembl chr 3:117,885,099...117,897,249 		JBrowse link
G Mbl2 mannose binding lectin 2 susceptibility
disease progression		 ISO associated with leukemia;
associated with Precursor B-Cell Lymphoblastic Leukemia-Lymphoma;DNA:polymorphisms:exon:
associated with Neoplasms;DNA:SNP,haplotyep:promoter:		 RGD PMID:24819208 PMID:24453114 PMID:20930093 RGD:11530041, RGD:11530056, RGD:11530043 NCBI chr 1:228,016,439...228,024,736 JBrowse link
G Mdm2 MDM2 proto-oncogene susceptibility ISO associated with Breast Neoplasms;DNA:SNP:cds:309T>G(rs2279744)(human) RGD PMID:21706156 RGD:11073725 NCBI chr 7:53,290,660...53,315,205
Ensembl chr 7:53,290,664...53,314,915 		JBrowse link
G Tp53 tumor protein p53 susceptibility ISO associated with Breast Neoplasms;DNA:SNP:cds: p.R72P(rs1042522)(human) RGD PMID:21706156 RGD:11073725 NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524 		JBrowse link
chronic granulomatous disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cyba cytochrome b-245 alpha chain ISO autosomal recessive cytochrome b-negative CGD, OMIM:233690;DNA:missense mutation: :p.R90Q (human)
ClinVar Annotator: match by term: Chronic granulomatous disease
CTD Direct Evidence: marker/mechanism
DNA:nonsense,missense mutations:exons:35C>T, 98G>A,(p.Q3X,G24R)(human)
DNA:mutations:multiple (human)		 ClinVar
CTD
RGD		 PMID:1415254 PMID:1763037 PMID:2243141 PMID:3368442 PMID:8168815 More... RGD:1600791, RGD:11040541, RGD:734861 NCBI chr19:50,487,598...50,495,669
Ensembl chr19:50,487,597...50,495,721 		JBrowse link
G Cybb cytochrome b-245 beta chain ISO
ISS		 DNA:point mutations:promoter
ClinVar Annotator: match by term: Chronic granulomatous disease
CTD Direct Evidence: marker/mechanism|therapeutic
DNA:mutations:promoter:		 MouseDO
ClinVar
CTD
RGD		 PMID:1347621 PMID:8634410 PMID:9585602 PMID:11045425 PMID:11122248 More... RGD:1599664, RGD:11040566 NCBI chr  X:13,358,101...13,392,570
Ensembl chr  X:13,359,430...13,392,586 		JBrowse link
G G6pd glucose-6-phosphate dehydrogenase ISO CTD Direct Evidence: marker/mechanism CTD PMID:4125296 NCBI chr  X:152,201,081...152,220,863
Ensembl chr  X:152,201,098...152,220,801 		JBrowse link
G Ifng interferon gamma ISO RGD PMID:22883043 RGD:6893353 NCBI chr 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375 		JBrowse link
G Ncf1 neutrophil cytosolic factor 1 ISO
ISS		 autosomal recessive cytochrome b-positive CGC type I, OMIM:233700, DNA:splice-site mutation:75delGT
ClinVar Annotator: match by term: Chronic granulomatous disease
OMIM:138990 | OMIM:233690 | OMIM:233700 | OMIM:233710 | OMIM:306400 | OMIM:613960		 ClinVar
MouseDO
RGD		 PMID:11920901 PMID:24446915 PMID:25741868 PMID:33746979 PMID:7678602 More... RGD:1600562, RGD:1624401 NCBI chr12:22,485,382...22,494,647
Ensembl chr12:22,485,451...22,494,646 		JBrowse link
G Ncf2 neutrophil cytosolic factor 2 ISO ClinVar Annotator: match by term: Chronic granulomatous disease ClinVar
RGD		 PMID:9536098 PMID:10498624 PMID:17576681 PMID:19624736 PMID:20167518 More... RGD:1624401 NCBI chr13:64,955,622...64,986,144
Ensembl chr13:64,955,503...64,986,277 		JBrowse link
G Ncf4 neutrophil cytosolic factor 4 ISO ClinVar Annotator: match by term: Chronic granulomatous disease ClinVar PMID:16880254 PMID:19692703 PMID:20167518 PMID:28492532 PMID:29969437 More... NCBI chr 7:109,825,420...109,843,389
Ensembl chr 7:109,826,020...109,843,389 		JBrowse link
G Tlr5 toll-like receptor 5 ISO protein:decreased expression:blood, neutrophil (human) RGD PMID:18155283 RGD:5130865 NCBI chr13:94,634,778...94,658,992
Ensembl chr13:94,634,801...94,657,738 		JBrowse link
G Tlr9 toll-like receptor 9 ISO protein:decreased expression:blood, neutrophil (human) RGD PMID:18155283 RGD:5130865 NCBI chr 8:106,864,680...106,868,796
Ensembl chr 8:106,864,680...106,868,796 		JBrowse link
combined cellular and humoral immune defects with granulomas term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Iftap intraflagellar transport associated protein ISO ClinVar Annotator: match by term: Combined immunodeficiency with skin granulomas ClinVar PMID:8810255 PMID:11133745 PMID:24290284 PMID:25739914 PMID:28492532 NCBI chr 3:87,812,068...87,906,517
Ensembl chr 3:87,817,408...87,906,547 		JBrowse link
G Rag1 recombination activating 1 ISO ClinVar Annotator: match by term: Combined cellular and humoral immune defects with granulomas | ClinVar Annotator: match by term: Combined immunodeficiency with skin granulomas
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:290284 PMID:2682973 PMID:2808362 PMID:8810255 PMID:9630231 More... NCBI chr 3:87,917,061...87,928,158
Ensembl chr 3:87,917,004...87,928,291 		JBrowse link
G Rag2 recombination activating 2 ISO ClinVar Annotator: match by term: Combined cellular and humoral immune defects with granulomas | ClinVar Annotator: match by term: Combined immunodeficiency with skin granulomas
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:2618670 PMID:8810255 PMID:9630231 PMID:10777560 PMID:10891502 More... NCBI chr 3:87,902,373...87,910,227
Ensembl chr 3:87,902,238...87,911,066 		JBrowse link
cutaneous mastocytosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kit KIT proto-oncogene receptor tyrosine kinase ISO ClinVar Annotator: match by term: Cutaneous mastocytosis ClinVar PMID:7479840 PMID:7530509 PMID:7691885 PMID:8589724 PMID:9438854 More... NCBI chr14:32,547,459...32,624,694
Ensembl chr14:32,548,877...32,624,652 		JBrowse link
G Kitlg KIT ligand ISO CTD Direct Evidence: marker/mechanism CTD PMID:20559008 NCBI chr 7:34,896,075...34,977,215
Ensembl chr 7:34,896,053...34,977,214 		JBrowse link
cyclic hematopoiesis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abca7 ATP binding cassette subfamily A member 7 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr 7:9,691,452...9,711,466
Ensembl chr 7:9,691,449...9,711,425 		JBrowse link
G Abhd17a abhydrolase domain containing 17A, depalmitoylase ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr 7:9,124,332...9,132,762
Ensembl chr 7:9,124,332...9,130,762 		JBrowse link
G Adamtsl5 ADAMTS-like 5 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr 7:9,362,623...9,371,248
Ensembl chr 7:9,363,237...9,370,285 		JBrowse link
G Adat3 adenosine deaminase, tRNA-specific 3 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr 7:9,109,070...9,113,673
Ensembl chr 7:9,101,187...9,115,340 		JBrowse link
G Ap3b1 adaptor related protein complex 3 subunit beta 1 ISO Neutropenia, cyclic OMIA PMID:47249 PMID:127610 PMID:173440 PMID:336117 PMID:347941 More... NCBI chr 2:25,600,069...25,800,937
Ensembl chr 2:25,600,040...25,800,935 		JBrowse link
G Ap3d1 adaptor related protein complex 3 subunit delta 1 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr 7:8,970,249...9,005,651
Ensembl chr 7:8,970,291...9,005,643 		JBrowse link
G Apc2 APC regulator of WNT signaling pathway 2 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr 7:9,392,336...9,414,364
Ensembl chr 7:9,392,336...9,414,310 		JBrowse link
G Arhgap45 Rho GTPase activating protein 45 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr 7:9,674,873...9,690,286
Ensembl chr 7:9,674,897...9,690,268 		JBrowse link
G Arid3a AT-rich interaction domain 3A ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr 7:9,755,291...9,781,260
Ensembl chr 7:9,755,294...9,780,599 		JBrowse link
G Atp5f1d ATP synthase F1 subunit delta ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr 7:9,560,604...9,565,919
Ensembl chr 7:9,560,608...9,565,929 		JBrowse link
G Atp8b3 ATPase phospholipid transporting 8B3 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr 7:9,175,544...9,195,449
Ensembl chr 7:9,175,391...9,195,442 		JBrowse link
G Btbd2 BTB domain containing 2 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr 7:9,058,609...9,075,341
Ensembl chr 7:9,060,788...9,075,344 		JBrowse link
G C7h19orf25 similar to human chromosome 19 open reading frame 25 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr 7:9,390,255...9,392,383 JBrowse link
G Cbarp CACN subunit beta associated regulatory protein ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr 7:9,566,637...9,575,204
Ensembl chr 7:9,566,364...9,575,204 		JBrowse link
G Cfd complement factor D ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr 7:9,813,148...9,814,871
Ensembl chr 7:9,813,150...9,815,053 		JBrowse link
G Cirbp cold inducible RNA binding protein ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr 7:9,533,857...9,538,899
Ensembl chr 7:9,424,178...9,538,818 		JBrowse link
G Cnn2 calponin 2 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr 7:9,712,505...9,719,678
Ensembl chr 7:9,712,516...9,719,656 		JBrowse link
G Csnk1g2 casein kinase 1, gamma 2 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr 7:9,076,739...9,095,082
Ensembl chr 7:9,076,740...9,095,052 		JBrowse link
G Dazap1 DAZ associated protein 1 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr 7:9,423,673...9,448,116
Ensembl chr 7:9,424,178...9,538,818 		JBrowse link
G Efna2 ephrin A2 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr 7:9,515,635...9,528,071
Ensembl chr 7:9,516,429...9,527,061 		JBrowse link
G Elane elastase, neutrophil expressed ISO ClinVar Annotator: match by term: Cyclical neutropenia
CTD Direct Evidence: marker/mechanism
DNA:mutations: :		 OMIM
ClinVar
CTD
RGD		 PMID:3229910 PMID:9536098 PMID:10581030 PMID:11001877 PMID:11278653 More... RGD:10450519 NCBI chr 7:9,817,251...9,819,174
Ensembl chr 7:9,817,252...9,819,100 		JBrowse link
G Fam174c family with sequence similarity 174 member C ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr 7:9,531,995...9,533,705 JBrowse link
G Fgf22 fibroblast growth factor 22 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr 7:9,947,632...9,956,918
Ensembl chr 7:9,948,071...9,950,486 		JBrowse link
G Fstl3 follistatin like 3 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr 7:9,923,574...9,929,223
Ensembl chr 7:9,923,576...9,939,639 		JBrowse link
G Gamt guanidinoacetate N-methyltransferase ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr 7:9,448,590...9,451,413
Ensembl chr 7:9,448,628...9,451,778 		JBrowse link
G Gpx4 glutathione peroxidase 4 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr 7:9,650,186...9,652,982
Ensembl chr 7:9,650,185...9,652,982 		JBrowse link
G Grin3b glutamate ionotropic receptor NMDA type subunit 3B ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr 7:9,730,861...9,737,183
Ensembl chr 7:9,730,862...9,737,183 		JBrowse link
G Hcn2 hyperpolarization activated cyclic nucleotide gated potassium and sodium channel 2 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr 7:9,969,801...9,988,839
Ensembl chr 7:9,970,368...9,988,841 		JBrowse link
G Izumo4 IZUMO family member 4 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr 7:9,007,276...9,010,428
Ensembl chr 7:9,007,280...9,010,032 		JBrowse link
G Kiss1r KISS1 receptor ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr 7:9,785,135...9,790,283
Ensembl chr 7:9,785,135...9,788,793 		JBrowse link
G Klf16 KLF transcription factor 16 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr 7:9,138,503...9,148,322
Ensembl chr 7:9,138,503...9,148,317 		JBrowse link
G Mbd3 methyl-CpG binding domain protein 3 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr 7:9,312,961...9,320,166
Ensembl chr 7:9,313,098...9,320,165 		JBrowse link
G Med16 mediator complex subunit 16 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr 7:9,798,641...9,811,172
Ensembl chr 7:9,798,668...9,811,172 		JBrowse link
G Mex3d mex-3 RNA binding family member D ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr 7:9,325,575...9,332,705
Ensembl chr 7:9,325,488...9,332,096 		JBrowse link
G Midn midnolin ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr 7:9,548,100...9,559,605
Ensembl chr 7:9,549,650...9,559,752 		JBrowse link
G Misp mitotic spindle positioning ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr 7:9,870,390...9,886,541
Ensembl chr 7:9,870,444...9,886,541 		JBrowse link
G Mknk2 MAPK interacting serine/threonine kinase 2 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr 7:9,039,771...9,050,832
Ensembl chr 7:9,039,728...9,050,827 		JBrowse link
G Mob3a MOB kinase activator 3A ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr 7:9,010,490...9,027,888
Ensembl chr 7:9,010,587...9,027,879 		JBrowse link
G Ndufs7 NADH:ubiquinone oxidoreductase core subunit S7 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr 7:9,452,556...9,460,135
Ensembl chr 7:9,450,392...9,460,195 		JBrowse link
G Onecut3 one cut homeobox 3 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr 7:9,199,997...9,219,303
Ensembl chr 7:9,200,035...9,219,158
Ensembl chr 7:9,200,035...9,219,158 		JBrowse link
G Palm paralemmin ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr 7:9,886,634...9,912,389
Ensembl chr 7:9,886,643...9,912,555 		JBrowse link
G Pcsk4 proprotein convertase subtilisin/kexin type 4 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr 7:9,381,366...9,389,589
Ensembl chr 7:9,381,361...9,389,585 		JBrowse link
G Plk5 polo-like kinase 5 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr 7:9,346,777...9,367,923
Ensembl chr 7:9,346,777...9,355,196 		JBrowse link
G Plppr3 phospholipid phosphatase related 3 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr 7:9,831,162...9,842,434
Ensembl chr 7:9,831,162...9,845,296 		JBrowse link
G Polr2e RNA polymerase II, I and III subunit E ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr 7:9,666,695...9,670,638
Ensembl chr 7:9,666,716...9,670,643 		JBrowse link
G Polrmt RNA polymerase mitochondrial ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr 7:9,959,532...9,969,791
Ensembl chr 7:9,959,576...9,969,791 		JBrowse link
G Prss57 serine protease 57 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr 7:9,915,667...9,922,996
Ensembl chr 7:9,917,484...9,922,922 		JBrowse link
G Prtn3 proteinase 3 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr 7:9,822,123...9,831,300
Ensembl chr 7:9,822,122...9,831,944 		JBrowse link
G Ptbp1 polypyrimidine tract binding protein 1 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr 7:9,842,574...9,852,332
Ensembl chr 7:9,842,574...9,852,397 		JBrowse link
G Pwwp3a PWWP domain containing 3A, DNA repair factor ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr 7:9,465,180...9,482,053
Ensembl chr 7:9,465,195...9,481,966 		JBrowse link
G R3hdm4 R3H domain containing 4 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr 7:9,790,401...9,797,512
Ensembl chr 7:9,790,322...9,797,512 		JBrowse link
G Reep6 receptor accessory protein 6 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr 7:9,373,927...9,380,845
Ensembl chr 7:9,373,927...9,380,597 		JBrowse link
G Rexo1 RNA exonuclease 1 homolog ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr 7:9,154,050...9,174,035
Ensembl chr 7:9,154,061...9,173,454 		JBrowse link
G Rnf126 ring finger protein 126 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr 7:9,939,359...9,946,963
Ensembl chr 7:9,938,229...9,946,738 		JBrowse link
G Rps15 ribosomal protein S15 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr 7:9,416,003...9,417,442
Ensembl chr 7:9,416,004...9,417,450 		JBrowse link
G Sbno2 strawberry notch homolog 2 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr 7:9,605,572...9,649,529
Ensembl chr 7:9,605,627...9,649,527 		JBrowse link
G Scamp4 secretory carrier membrane protein 4 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr 7:9,101,504...9,113,929
Ensembl chr 7:9,101,489...9,113,967 		JBrowse link
G Stk11 serine/threonine kinase 11 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr 7:9,574,553...9,591,315
Ensembl chr 7:9,575,269...9,591,315 		JBrowse link
G Tcf3 transcription factor 3 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr 7:9,280,571...9,302,315
Ensembl chr 7:9,280,571...9,302,314 		JBrowse link
G Tmem259 transmembrane protein 259 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr 7:9,724,196...9,730,932
Ensembl chr 7:9,722,485...9,730,932 		JBrowse link
G Uqcr11 ubiquinol-cytochrome c reductase, complex III subunit XI ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr 7:9,305,042...9,309,753
Ensembl chr 7:9,305,058...9,309,750 		JBrowse link
G Wdr18 WD repeat domain 18 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr 7:9,740,245...9,748,041
Ensembl chr 7:9,739,604...9,748,070 		JBrowse link
diffuse cutaneous mastocytosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kit KIT proto-oncogene receptor tyrosine kinase ISO ClinVar Annotator: match by term: MASTOCYTOSIS, DIFFUSE CUTANEOUS ClinVar PMID:7479840 PMID:7691885 PMID:8589724 PMID:9827716 PMID:9990072 More... NCBI chr14:32,547,459...32,624,694
Ensembl chr14:32,548,877...32,624,652 		JBrowse link
diffuse large B-cell lymphoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcb1a ATP binding cassette subfamily B member 1A ISO CTD Direct Evidence: marker/mechanism CTD PMID:21325069 NCBI chr 4:25,357,467...25,529,941
Ensembl chr 4:25,158,362...25,442,709 		JBrowse link
G Abcg2 ATP binding cassette subfamily G member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21625222 NCBI chr 4:87,676,241...87,802,757
Ensembl chr 4:87,745,319...87,802,409 		JBrowse link
G Alk ALK receptor tyrosine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:22474449 NCBI chr 6:22,879,653...23,599,636
Ensembl chr 6:22,880,625...23,598,034 		JBrowse link
G B2m beta-2 microglobulin ISO CTD Direct Evidence: marker/mechanism CTD PMID:7688627 NCBI chr 3:109,095,740...109,101,764
Ensembl chr 3:109,095,729...109,101,766 		JBrowse link
G Bcas2 BCAS2, pre-mRNA processing factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:27356265 NCBI chr 2:190,692,503...190,700,386
Ensembl chr 2:190,692,461...190,700,389 		JBrowse link
G Bcl2 BCL2, apoptosis regulator ISO CTD Direct Evidence: marker/mechanism CTD PMID:16081686 NCBI chr13:22,689,783...22,853,920
Ensembl chr13:22,684,989...22,853,743
Ensembl chr13:22,684,989...22,853,743 		JBrowse link
G Bcl2l2 Bcl2-like 2 disease_progression ISO RGD PMID:28094768 RGD:14394511 NCBI chr15:28,346,449...28,361,627
Ensembl chr15:28,356,807...28,361,624 		JBrowse link
G Bcl6 BCL6, transcription repressor disease_progression ISO diffuse large B-cell lymphoma RGD PMID:11821949 PMID:15701085 RGD:1600111, RGD:11530023 NCBI chr11:76,854,090...76,877,389
Ensembl chr11:76,854,090...76,877,389 		JBrowse link
G Braf B-Raf proto-oncogene, serine/threonine kinase ISO ClinVar Annotator: match by term: Diffuse large B cell lymphoma ClinVar NCBI chr 4:68,375,484...68,510,652
Ensembl chr 4:68,384,649...68,510,463 		JBrowse link
G Brca2 BRCA2, DNA repair associated ISO ClinVar Annotator: match by term: Diffuse large B cell lymphoma ClinVar PMID:9150172 PMID:18489799 PMID:20104584 PMID:21138478 PMID:22798144 More... NCBI chr12:59,492...103,789
Ensembl chr12:59,819...100,567 		JBrowse link
G Btk Bruton tyrosine kinase ISO ClinVar Annotator: match by term: Diffuse large B cell lymphoma ClinVar PMID:24869598 PMID:25082755 PMID:25189416 PMID:25741868 PMID:27199251 More... NCBI chr  X:97,722,796...97,762,315
Ensembl chr  X:97,722,802...97,761,853 		JBrowse link
G Card11 caspase recruitment domain family, member 11 ISO DNA:missense mutations:exons:multiple (human)
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:25049379 PMID:26192916 PMID:18323416 RGD:11100036 NCBI chr12:13,621,140...13,758,115
Ensembl chr12:13,621,087...13,758,112 		JBrowse link
G Cat catalase ISO CTD Direct Evidence: marker/mechanism CTD PMID:16081686 NCBI chr 3:89,842,393...89,874,577
Ensembl chr 3:89,842,399...89,874,478 		JBrowse link
G Ccdc86 coiled-coil domain containing 86 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23828858 NCBI chr 1:207,590,167...207,596,547
Ensembl chr 1:207,590,168...207,596,544 		JBrowse link
G Cd22 CD22 molecule treatment ISO RGD PMID:25708834 RGD:151665133 NCBI chr 1:86,116,376...86,132,782
Ensembl chr 1:86,117,459...86,132,322 		JBrowse link
G Cd40 CD40 molecule susceptibility ISO DNA:SNP:5' utr:c.-1C>T (rs1883832) (human) RGD PMID:20473910 RGD:5490541 NCBI chr 3:153,790,372...153,805,279
Ensembl chr 3:153,790,449...153,805,534 		JBrowse link
G Cd79a CD79a molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:25049379 NCBI chr 1:80,493,581...80,497,936
Ensembl chr 1:80,493,581...80,497,935 		JBrowse link
G Cd79b CD79b molecule severity
treatment		 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Diffuse large B cell lymphoma
DNA:missense mutation:multiple, exon 5 (human)
DNA:missense mutation:multiple, exon 5-6 (human)
DNA:mutation:multiple (human)		 CTD
ClinVar
RGD		 PMID:11160144 PMID:21173233 PMID:31402495 PMID:31609782 PMID:25347427 More... RGD:151665203, RGD:11075852, RGD:151665133, RGD:151665120 NCBI chr10:91,239,354...91,242,500
Ensembl chr10:91,239,356...91,242,625 		JBrowse link
G Cdk1 cyclin-dependent kinase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19223503 NCBI chr20:19,266,226...19,281,417
Ensembl chr20:19,266,248...19,281,408 		JBrowse link
G Cdkn2a cyclin-dependent kinase inhibitor 2A ISO CTD Direct Evidence: marker/mechanism CTD PMID:21325069 NCBI chr 5:103,984,949...103,992,143
Ensembl chr 5:103,984,949...104,003,149 		JBrowse link
G Chek2 checkpoint kinase 2 ISO ClinVar Annotator: match by term: Diffuse large B cell lymphoma ClinVar PMID:16199547 PMID:21876083 PMID:24713400 PMID:28492532 NCBI chr12:45,788,823...45,821,382
Ensembl chr12:45,788,827...45,821,286 		JBrowse link
G Cltc clathrin heavy chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:22474449 NCBI chr10:71,517,661...71,574,591
Ensembl chr10:71,517,663...71,573,737 		JBrowse link
G Crebbp CREB binding protein ISO ClinVar Annotator: match by term: Diffuse large B cell lymphoma ClinVar PMID:24755471 PMID:28481359 PMID:30239046 PMID:33323405 NCBI chr10:11,335,551...11,461,888
Ensembl chr10:11,335,953...11,461,888 		JBrowse link
G Dicer1 dicer 1 ribonuclease III disease_progression ISO RGD PMID:25195038 RGD:149735347 NCBI chr 6:123,627,529...123,692,278
Ensembl chr 6:123,631,250...123,693,965 		JBrowse link
G Dnmt3a DNA methyltransferase 3 alpha ISO ClinVar Annotator: match by term: Diffuse large B cell lymphoma ClinVar PMID:25363760 PMID:25741868 PMID:29900417 PMID:30478443 PMID:32581362 More... NCBI chr 6:26,791,517...26,902,161
Ensembl chr 6:26,822,609...26,896,687 		JBrowse link
G Etv6 ETS variant transcription factor 6 ISO ClinVar Annotator: match by term: Diffuse large B cell lymphoma ClinVar PMID:35053500 NCBI chr 4:166,849,031...167,085,211
Ensembl chr 4:166,847,686...167,084,992 		JBrowse link
G Ezh2 enhancer of zeste 2 polycomb repressive complex 2 subunit ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:20081860 PMID:28438623 RGD:126779596 NCBI chr 4:76,624,399...76,687,362
Ensembl chr 4:76,624,399...76,687,362 		JBrowse link
G Fas Fas cell surface death receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:26192916 NCBI chr 1:231,798,963...231,832,591
Ensembl chr 1:231,798,960...231,832,591 		JBrowse link
G Fcgr2a Fc gamma receptor 2A disease_progression ISO DNA:SNP: :rs1801274 (human) RGD PMID:27282998 RGD:11344967 NCBI chr13:83,280,782...83,297,535
Ensembl chr13:83,280,784...83,295,967 		JBrowse link
G Foxo1 forkhead box O1 ISO ClinVar Annotator: match by term: Diffuse large B cell lymphoma ClinVar PMID:26314988 PMID:29721381 PMID:35079069 NCBI chr 2:136,312,168...136,390,603
Ensembl chr 2:136,312,168...136,387,790 		JBrowse link
G Gli1 GLI family zinc finger 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21625222 NCBI chr 7:63,156,926...63,169,579
Ensembl chr 7:63,156,926...63,169,251 		JBrowse link
G Gstm1 glutathione S-transferase mu 1 treatment ISO RGD PMID:20303013 RGD:10450835 NCBI chr 2:195,649,845...195,655,402
Ensembl chr 2:195,649,845...195,655,411 		JBrowse link
G Gstp1 glutathione S-transferase pi 1 susceptibility ISO DNA:SNP: :(rs1695)(human) RGD PMID:19338043 RGD:8547939 NCBI chr 1:201,337,762...201,340,230
Ensembl chr 1:201,321,672...201,340,226 		JBrowse link
G Gstt1 glutathione S-transferase theta 1 severity ISO DNA:deletion:cds: RGD PMID:20303013 RGD:10450835 NCBI chr20:12,856,613...12,873,586
Ensembl chr20:12,856,669...12,873,585 		JBrowse link
G Icam1 intercellular adhesion molecule 1 disease_progression ISO proteion:increased expression:serum: RGD PMID:12598355 RGD:11354982 NCBI chr 8:19,553,063...19,565,438
Ensembl chr 8:19,553,645...19,565,438 		JBrowse link
G Il21r interleukin 21 receptor ISO diffuse large B-cell lymphoma RGD PMID:11821949 RGD:1600111 NCBI chr 1:180,168,028...180,195,690
Ensembl chr 1:180,168,097...180,195,522 		JBrowse link
G Immp2l inner mitochondrial membrane peptidase subunit 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27356265 NCBI chr 6:58,070,035...58,970,165
Ensembl chr 6:58,070,283...58,969,840 		JBrowse link
G Irf4 interferon regulatory factor 4 disease_progression ISO RGD PMID:15701085 RGD:11530023 NCBI chr17:33,721,800...33,742,570
Ensembl chr17:33,721,811...33,740,070 		JBrowse link
G Kmt2d lysine methyltransferase 2D ISO CTD Direct Evidence: marker/mechanism CTD PMID:21804550 NCBI chr 7:129,980,744...130,022,088
Ensembl chr 7:129,962,887...130,020,325 		JBrowse link
G Malt1 MALT1 paracaspase ISO CTD Direct Evidence: marker/mechanism CTD PMID:21173233 NCBI chr18:58,942,282...58,996,318
Ensembl chr18:58,942,299...58,994,260 		JBrowse link
G Mki67 marker of proliferation Ki-67 disease_progression ISO RGD PMID:20919850 RGD:6483541 NCBI chr 1:190,496,319...190,522,983
Ensembl chr 1:190,496,319...190,522,762 		JBrowse link
G Mthfr methylenetetrahydrofolate reductase susceptibility ISO DNA:transition, transversion, haplotype:cds:g.677C>T, g.1298A>C (human) RGD PMID:17712558 RGD:6893517 NCBI chr 5:158,465,248...158,484,999
Ensembl chr 5:158,465,296...158,483,797 		JBrowse link
G Myc MYC proto-oncogene, bHLH transcription factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:27356265 NCBI chr 7:93,593,705...93,598,633
Ensembl chr 7:93,593,705...93,598,630 		JBrowse link
G Myd88 MYD88, innate immune signal transduction adaptor severity ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Diffuse large B cell lymphoma
DNA:missense mutation:L265P (human)
DNA:mutation:L265P, L265S (human)		 CTD
ClinVar
RGD		 PMID:21179087 PMID:22931316 PMID:23215570 PMID:23355535 PMID:25049379 More... RGD:151665203, RGD:11075852, RGD:151665120 NCBI chr 8:119,074,439...119,078,508
Ensembl chr 8:119,074,437...119,079,415 		JBrowse link
G Nbn nibrin ISO ClinVar Annotator: match by term: Diffuse large B cell lymphoma ClinVar PMID:9590180 PMID:16415040 PMID:28492532 NCBI chr 5:29,459,574...29,494,152
Ensembl chr 5:29,459,457...29,494,150 		JBrowse link
G Nectin2 nectin cell adhesion molecule 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27356265 NCBI chr 1:79,372,123...79,407,379
Ensembl chr 1:79,372,119...79,407,360 		JBrowse link
G Nf1 neurofibromin 1 ISO ClinVar Annotator: match by term: Diffuse large B cell lymphoma ClinVar PMID:21390130 PMID:22158541 PMID:23292937 NCBI chr10:64,306,027...64,539,112
Ensembl chr10:64,306,301...64,536,658 		JBrowse link
G Nfkbia NFKB inhibitor alpha no_association ISO RGD PMID:15198731 RGD:2298905 NCBI chr 6:72,858,713...72,861,941
Ensembl chr 6:72,858,712...72,861,941 		JBrowse link
G Nom1 nucleolar protein with MIF4G domain 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22474449 NCBI chr 4:5,891,220...5,910,741
Ensembl chr 4:5,892,909...5,909,709 		JBrowse link
G Pdpk1 3-phosphoinositide dependent protein kinase-1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21173233 NCBI chr10:13,105,435...13,182,664
Ensembl chr10:13,105,498...13,174,623 		JBrowse link
G Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:21173233 NCBI chr 2:115,175,275...115,249,034
Ensembl chr 2:115,174,984...115,249,032 		JBrowse link
G Pik3cb phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:21173233 NCBI chr 8:99,594,600...99,699,772
Ensembl chr 8:99,594,644...99,699,663 		JBrowse link
G Pik3cd phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta ISO CTD Direct Evidence: marker/mechanism CTD PMID:21173233 NCBI chr 5:160,094,952...160,142,962
Ensembl chr 5:160,094,952...160,120,930 		JBrowse link
G Pik3cg phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma ISO CTD Direct Evidence: marker/mechanism CTD PMID:21173233 NCBI chr 6:48,766,778...48,802,098
Ensembl chr 6:48,766,864...48,802,043 		JBrowse link
G Pms2 PMS1 homolog 2, mismatch repair system component ISO ClinVar Annotator: match by term: Diffuse large B cell lymphoma ClinVar NCBI chr12:10,676,818...10,701,161
Ensembl chr12:10,676,764...10,701,066 		JBrowse link
G Prdm1 PR/SET domain 1 disease_progression ISO RGD PMID:22321048 RGD:150530470 NCBI chr20:47,959,858...47,981,488
Ensembl chr20:47,959,858...47,981,488 		JBrowse link
G Prdx3 peroxiredoxin 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16081686 NCBI chr 1:260,001,642...260,014,064
Ensembl chr 1:260,001,637...260,014,111 		JBrowse link
G Prdx4 peroxiredoxin 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16081686 NCBI chr  X:40,026,762...40,044,066
Ensembl chr  X:40,026,651...40,044,066 		JBrowse link
G Prmt5 protein arginine methyltransferase 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:31123343 NCBI chr15:27,968,893...27,978,291
Ensembl chr15:27,968,910...27,978,296 		JBrowse link
G Pten phosphatase and tensin homolog ISO ClinVar Annotator: match by term: Diffuse large B cell lymphoma ClinVar PMID:10468583 PMID:10555148 PMID:10698513 PMID:10866302 PMID:10866658 More... NCBI chr 1:230,630,443...230,697,070
Ensembl chr 1:230,630,338...230,696,838 		JBrowse link
G Rangap1 RAN GTPase activating protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27150054 NCBI chr 7:113,224,695...113,250,441
Ensembl chr 7:113,224,703...113,250,438 		JBrowse link
G Rps6kb1 ribosomal protein S6 kinase B1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19223503 NCBI chr10:71,323,777...71,367,908
Ensembl chr10:71,323,777...71,367,908 		JBrowse link
G Sec31a SEC31 homolog A, COPII coat complex component ISO CTD Direct Evidence: marker/mechanism CTD PMID:22474449 NCBI chr14:9,214,324...9,269,281
Ensembl chr14:9,214,349...9,269,273 		JBrowse link
G Sf3a1 splicing factor 3A subunit 1 ISO ClinVar Annotator: match by term: Diffuse large B cell lymphoma ClinVar PMID:22037554 PMID:26498691 PMID:33563892 NCBI chr14:79,031,394...79,052,144
Ensembl chr14:79,031,394...79,052,144 		JBrowse link
G Skp2 S-phase kinase associated protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18850583 NCBI chr 2:58,161,226...58,189,293
Ensembl chr 2:58,161,229...58,189,338 		JBrowse link
G Smurf2 SMAD specific E3 ubiquitin protein ligase 2 ISS MouseDO NCBI chr10:91,761,798...91,862,485
Ensembl chr10:91,761,807...91,862,488 		JBrowse link
G Socs1 suppressor of cytokine signaling 1 ISO ClinVar Annotator: match by term: Diffuse large B cell lymphoma ClinVar PMID:19734449 PMID:23296022 PMID:26336985 PMID:28302137 PMID:29625055 NCBI chr10:4,882,651...4,884,342
Ensembl chr10:4,882,560...4,884,383 		JBrowse link
G Sod2 superoxide dismutase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16081686 NCBI chr 1:47,638,318...47,645,163
Ensembl chr 1:47,636,528...47,645,189 		JBrowse link
G Sod3 superoxide dismutase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16081686 NCBI chr14:58,610,104...58,615,845
Ensembl chr14:58,609,958...58,615,990 		JBrowse link
G Stat3 signal transducer and activator of transcription 3 ISO ClinVar Annotator: match by term: Diffuse large B cell lymphoma ClinVar PMID:21690253 PMID:22591296 PMID:22859607 PMID:23926297 PMID:25873174 More... NCBI chr10:85,811,206...85,863,057
Ensembl chr10:85,811,218...85,863,057 		JBrowse link
G Syk spleen associated tyrosine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:33782605 NCBI chr17:12,604,615...12,678,437
Ensembl chr17:12,604,619...12,661,410 		JBrowse link
G Tbl1xr1 TBL1X/Y related 1 ISO ClinVar Annotator: match by term: Diffuse large B cell lymphoma ClinVar PMID:9450851 PMID:16492805 PMID:21156281 PMID:21156282 PMID:25741868 More... NCBI chr 2:104,788,950...104,929,055
Ensembl chr 2:104,801,721...104,929,055 		JBrowse link
G Tp53 tumor protein p53 ISS
ISO		 ClinVar Annotator: match by term: Diffuse large B cell lymphoma MouseDO
ClinVar		 PMID:1631137 PMID:1978757 PMID:8062826 PMID:8099841 PMID:8425176 More... NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524 		JBrowse link
G Txnip thioredoxin interacting protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:16081686 NCBI chr 2:184,093,079...184,096,882
Ensembl chr 2:184,092,991...184,096,886 		JBrowse link
Drug-Induced Agranulocytosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Csf3 colony stimulating factor 3 treatment ISO associated with Graves Disease;
associated with Multiple Myeloma;		 RGD PMID:15785251 PMID:8935143 RGD:11039034, RGD:11039041 NCBI chr10:83,660,787...83,664,569
Ensembl chr10:83,661,207...83,663,603 		JBrowse link
G Il1b interleukin 1 beta treatment ISO associated with Glioblastoma; RGD PMID:1331350 RGD:10450883 NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415 		JBrowse link
G Il1rn interleukin 1 receptor antagonist ISO associated with Leukemia;protein:decreased expression:serum: RGD PMID:8698137 RGD:11528539 NCBI chr 3:7,111,567...7,127,451
Ensembl chr 3:7,111,550...7,127,445 		JBrowse link
G Nat2 N-acetyltransferase 2 ISO associated with Inflammation; RGD PMID:10739170 RGD:11532771 NCBI chr16:22,207,362...22,238,513
Ensembl chr16:22,208,194...22,238,520 		JBrowse link
Drug-Induced Leukopenia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cyp2c79 cytochrome P450, family 2, subfamily c, polypeptide 79 susceptibility ISO associated with Ovarian Neoplasms: DNA:polymorphism: : RGD PMID:21702053 RGD:11353800
G Cyp3a9 cytochrome P450, family 3, subfamily a, polypeptide 9 susceptibility ISO associated with Ovarian Neoplasms: DNA:polymorphism: : RGD PMID:21702053 RGD:11353800 NCBI chr12:16,806,222...16,846,428
Ensembl chr12:16,806,207...16,846,422 		JBrowse link
G Gstp1 glutathione S-transferase pi 1 susceptibility ISO associated with Urologic Neoplasms;DNA:polymorphism:cds:p.I105V(human) RGD PMID:17593093 RGD:10755415 NCBI chr 1:201,337,762...201,340,230
Ensembl chr 1:201,321,672...201,340,226 		JBrowse link
G Gstt1 glutathione S-transferase theta 1 severity ISO associated with diffuse large B-cell lymphoma; DNA:deletion:cds: RGD PMID:20303013 RGD:10450835 NCBI chr20:12,856,613...12,873,586
Ensembl chr20:12,856,669...12,873,585 		JBrowse link
Drug-induced Neutropenia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcb1a ATP binding cassette subfamily B member 1A susceptibility ISO associated with Carcinoma, Non-Small-Cell Lung;DNA:SNP: :2677G>T(human)
Breast Neoplasms;DNA:SNP: :3435 C>T(human)
associated with Precursor Cell Lymphoblastic Leukemia-Lymphoma;DNA:SNPs:rs1045642,rs1128503(human)		 RGD PMID:17534875 PMID:22271208 PMID:25007187 RGD:11080964, RGD:11081001, RGD:11080979 NCBI chr 4:25,357,467...25,529,941
Ensembl chr 4:25,158,362...25,442,709 		JBrowse link
G Abcc2 ATP binding cassette subfamily C member 2 susceptibility
no_association		 ISO associated with neoplasm;DNA:SNP:rs12762549(human) RGD PMID:18294295 PMID:23188068 RGD:11080980, RGD:11080999 NCBI chr 1:242,664,657...242,723,239
Ensembl chr 1:242,664,657...242,723,238 		JBrowse link
G Csf3 colony stimulating factor 3 treatment ISO associated with Leukemia, Hairy Cell;
associated with Hepatitis C, Chronic;		 RGD PMID:2461131 PMID:17660602 RGD:11039035, RGD:11039036 NCBI chr10:83,660,787...83,664,569
Ensembl chr10:83,661,207...83,663,603 		JBrowse link
G Cyp2c79 cytochrome P450, family 2, subfamily c, polypeptide 79 susceptibility ISO associated with Ovarian Neoplasms: DNA:polymorphism: : RGD PMID:21702053 RGD:11353800
G Cyp3a9 cytochrome P450, family 3, subfamily a, polypeptide 9 susceptibility ISO associated with Ovarian Neoplasms: DNA:polymorphism: :
associated with breast neoplasm;DNA:polymorphism:splice junction:6986A>G (human)		 RGD PMID:21702053 PMID:19332043 RGD:11353800, RGD:11353804 NCBI chr12:16,806,222...16,846,428
Ensembl chr12:16,806,207...16,846,422 		JBrowse link
G Dpyd dihydropyrimidine dehydrogenase treatment
no_association		 ISO associated with Neoplasms;DNA:splice-site mutation:intron:IVS14+1G>A (human)
associated with Neoplasms;DNA:missense mutations: :multiple
associated with Neoplasms;DNA:missense mutation: :p.M166V (496A>G) (human)
DNA:splice-site mutation, missense mutations: :multiple
associated with Colorectal Neoplasms;DNA:SNPs: :rs1801159 (1896T>C), rs17376848 (human)		 RGD PMID:12209976 PMID:19473056 PMID:19473056 PMID:11156223 PMID:23942539 RGD:11251736, RGD:11098817, RGD:11098817, RGD:11251738, RGD:11251737 NCBI chr 2:206,609,043...207,474,982
Ensembl chr 2:206,609,122...207,474,982 		JBrowse link
G Ercc1 ERCC excision repair 1, endonuclease non-catalytic subunit treatment ISO associated with Colorectal Neoplasms;DNA:SNP RGD PMID:23543295 RGD:11340199 NCBI chr 1:78,971,310...79,007,963
Ensembl chr 1:78,996,390...79,007,963 		JBrowse link
G Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit treatment ISO associated with Urinary Bladder Neoplasms;DNA:SNP: :p.K751Q (rs13181) (human) RGD PMID:21047201 RGD:11098572 NCBI chr 1:79,033,342...79,047,102
Ensembl chr 1:79,033,326...79,047,102 		JBrowse link
G Ercc6 ERCC excision repair 6, chromatin remodeling factor treatment ISO associated with lung non-small cell carcinoma;DNA:SNP:intron: (rs4253212) (human) RGD PMID:28924235 RGD:153323316 NCBI chr16:7,764,983...7,835,587
Ensembl chr16:7,765,013...7,835,587 		JBrowse link
G Fcgr3a Fc gamma receptor 3A ISO associated with Lymphoma, Large B-Cell, Diffuse;DNA:polymorphism: :p.V158F (human)
associated with Lymphoma, B-Cell;DNA:polymorphism: :p.V158F (human)
associated with Non-Hodgkin lymphoma;DNA:polymorphism: :p.V158F (human)		 RGD PMID:21883784 PMID:20730791 PMID:19933905 RGD:11344964, RGD:11352256, RGD:11344973 NCBI chr13:83,249,905...83,259,921
Ensembl chr13:83,249,872...83,259,921 		JBrowse link
G Gstp1 glutathione S-transferase pi 1 susceptibility ISO DNA:SNP:cds:p.I105V (rs1695) (human) RGD PMID:23812950 RGD:10755330 NCBI chr 1:201,337,762...201,340,230
Ensembl chr 1:201,321,672...201,340,226 		JBrowse link
G Gstt1 glutathione S-transferase theta 1 susceptibility ISO associated with breast cancer RGD PMID:23812950 RGD:10755330 NCBI chr20:12,856,613...12,873,586
Ensembl chr20:12,856,669...12,873,585 		JBrowse link
G Il1a interleukin 1 alpha treatment ISO associated with Carcinoma, Non-Small-Cell Lung RGD PMID:7666093 RGD:11051963 NCBI chr 3:116,526,601...116,537,055
Ensembl chr 3:116,526,604...116,536,822 		JBrowse link
G Mdm2 MDM2 proto-oncogene susceptibility ISO associated with Small Cell Lung Carcinoma;DNA:SNP::rs2279744(human) RGD PMID:24732641 RGD:11073715 NCBI chr 7:53,290,660...53,315,205
Ensembl chr 7:53,290,664...53,314,915 		JBrowse link
G Pold1 DNA polymerase delta 1, catalytic subunit treatment ISO associated with lung non-small cell carcinoma; DNA:SNPs:exon, introns: (rs1726801, rs1673041, rs3219341) (human) RGD PMID:28924235 RGD:153323316 NCBI chr 1:95,025,462...95,041,559
Ensembl chr 1:95,025,499...95,036,465 		JBrowse link
G RT1-Bb RT1 class II, locus Bb ISO RGD PMID:27400856 RGD:14928329 NCBI chr20:4,596,558...4,602,201
Ensembl chr20:4,596,559...4,607,597 		JBrowse link
G Slco1b2 solute carrier organic anion transporter family member 1B2 susceptibility
no_association		 ISO associated with neoplasm;DNA:SNP:rs11045585(human)
associated with neoplasm;DNA:SNP: rs11045585(human)		 RGD PMID:18294295 PMID:23188068 RGD:11080980, RGD:11080999 NCBI chr 4:174,551,463...174,619,988
Ensembl chr 4:174,551,480...174,619,981 		JBrowse link
G Sod2 superoxide dismutase 2 susceptibility ISO associated with female breast cancer;DNA:missense mutation:cds:p.V16A (rs4880) (human) RGD PMID:20309628 RGD:11035278 NCBI chr 1:47,638,318...47,645,163
Ensembl chr 1:47,636,528...47,645,189 		JBrowse link
G Tp53 tumor protein p53 susceptibility ISO associated with Small Cell Lung Carcinoma;DNA:SNP:: rs1042522(human) RGD PMID:24732641 RGD:11073715 NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524 		JBrowse link
G Ugt1a1 UDP glucuronosyltransferase family 1 member A1 susceptibility
treatment		 ISO associated with neoplasms;DNA:polymorphism, repeat:promoter:-3156G>A, TA (human)
associated with Carcinoma, Non-Small-Cell Lung; DNA:repeat:promoter:(TA)
associated with Esophageal Neoplasms,Stomach Neoplasm;DNA:repeat:promoter:(TA)
associated with Adenocarcinoma, Colorectal;DNA:repeat:promoter:(TA) (rs8175347)
associated with Genital Neoplasms, Female;DNA:polymorphisms: :		 RGD PMID:15007088 PMID:16636344 PMID:23783485 PMID:20177420 PMID:24932285 RGD:10768826, RGD:10769339, RGD:10769336, RGD:10769334, RGD:10768867 NCBI chr 9:88,801,344...88,808,465
Ensembl chr 9:88,713,184...88,808,465 		JBrowse link
Eosinophilia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcb1a ATP binding cassette subfamily B member 1A ISO associated with Chronic Rhinosinusitis;protein:increased expression:mucosa of ethmoidal sinus (human) RGD PMID:24717943 RGD:8657092 NCBI chr 4:25,357,467...25,529,941
Ensembl chr 4:25,158,362...25,442,709 		JBrowse link
G Bdkrb2 bradykinin receptor B2 ISO RGD PMID:10385260 RGD:4891039 NCBI chr 6:124,472,317...124,502,497
Ensembl chr 6:124,472,566...124,502,497 		JBrowse link
G Ccl11 C-C motif chemokine ligand 11 ISO associated with Sinusitis RGD PMID:19296494 RGD:4891487 NCBI chr10:67,028,328...67,032,929
Ensembl chr10:67,028,328...67,032,926 		JBrowse link
G Ccl17 C-C motif chemokine ligand 17 severity ISO associated with Lymphoma, T-Cell RGD PMID:18395252 RGD:11354898 NCBI chr19:10,202,128...10,203,903
Ensembl chr19:10,202,128...10,203,819 		JBrowse link
G Ccl24 C-C motif chemokine ligand 24 ISO associated with Sinusitis RGD PMID:19296494 RGD:4891487 NCBI chr12:21,100,835...21,104,832
Ensembl chr12:21,100,835...21,104,893 		JBrowse link
G Ccl26 C-C motif chemokine ligand 26 ISO associated with Sinusitis
associated with Pleural Effusion		 RGD PMID:19296494 PMID:15947325 RGD:4891487, RGD:5130928 NCBI chr12:21,109,384...21,114,336
Ensembl chr12:21,109,421...21,114,335 		JBrowse link
G Ccr3 C-C motif chemokine receptor 3 ISO associated with Asthma RGD PMID:17983872 RGD:4145642 NCBI chr 8:123,586,100...123,634,178
Ensembl chr 8:123,616,236...123,634,990 		JBrowse link
G Cebpb CCAAT/enhancer binding protein beta ISO RGD PMID:24078688 RGD:40903041 NCBI chr 3:156,398,035...156,399,466
Ensembl chr 3:156,397,052...156,399,473 		JBrowse link
G Cyba cytochrome b-245 alpha chain IAGP DNA:deletion:splice junction: RGD PMID:19406829 PMID:20660993 PMID:21512270 RGD:11040542, RGD:5134976, RGD:5134988 NCBI chr19:50,487,598...50,495,669
Ensembl chr19:50,487,597...50,495,721 		JBrowse link
G Cybam1Sdi cytochrome b-245 alpha chain;mutant 1,Sdi IAGP RGD PMID:19406829 PMID:20660993 PMID:21512270 RGD:11040542, RGD:5134976, RGD:5134988
G Fip1l1 factor interacting with PAPOLA and CPSF1 ISO DNA:gene fusion RGD PMID:23114151 RGD:11075088 NCBI chr14:33,615,210...33,675,742
Ensembl chr14:33,617,720...33,675,708 		JBrowse link
G Gata3 GATA binding protein 3 ISO CTD Direct Evidence: therapeutic CTD PMID:27315767 NCBI chr17:68,643,760...68,666,000
Ensembl chr17:68,643,873...68,665,391 		JBrowse link
G Il5 interleukin 5 treatment
severity		 IEP
ISO		 CTD Direct Evidence: marker/mechanism
associated with Toxocariasis
associated with Dermatitis, Atopic;DNA:polymorphism:promoter:-703C>T (human)
associated with Lymphoma, T-Cell		 CTD
RGD		 PMID:1988543 PMID:11006010 PMID:11884473 PMID:1699772 PMID:1988543 More... RGD:625643, RGD:11354933, RGD:11354921, RGD:11354913, RGD:11354898 NCBI chr10:37,874,342...37,877,213
Ensembl chr10:37,874,342...37,877,213 		JBrowse link
G Il5ra interleukin 5 receptor subunit alpha ISO RGD PMID:21762978 RGD:11354970 NCBI chr 4:139,630,652...139,664,593
Ensembl chr 4:139,632,066...139,668,544 		JBrowse link
G Kng2 kininogen 2 IDA RGD PMID:1937926 RGD:11059896 NCBI chr11:77,913,876...77,936,247
Ensembl chr11:77,909,612...78,002,971 		JBrowse link
G Myd88 MYD88, innate immune signal transduction adaptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:26882889 NCBI chr 8:119,074,439...119,078,508
Ensembl chr 8:119,074,437...119,079,415 		JBrowse link
G Pdgfra platelet derived growth factor receptor alpha ISO DNA:translocation: (human)
DNA:gene fusion		 RGD PMID:15284118 PMID:23114151 RGD:1580848, RGD:11075088 NCBI chr14:33,005,838...33,054,347
Ensembl chr14:33,005,839...33,054,335 		JBrowse link
G Rag2 recombination activating 2 ISO CTD Direct Evidence: therapeutic CTD PMID:27315767 NCBI chr 3:87,902,373...87,910,227
Ensembl chr 3:87,902,238...87,911,066 		JBrowse link
G Sharpin SHANK-associated RH domain interactor ISO CTD Direct Evidence: marker/mechanism CTD PMID:19650867 NCBI chr 7:108,070,681...108,075,012
Ensembl chr 7:108,070,687...108,074,955 		JBrowse link
G Tlr2 toll-like receptor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26882889 NCBI chr 2:169,200,620...169,206,819
Ensembl chr 2:169,197,419...169,206,630 		JBrowse link
G Tlr4 toll-like receptor 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26882889 NCBI chr 5:80,145,867...80,159,501
Ensembl chr 5:80,145,826...80,159,628 		JBrowse link
eosinophilia-myalgia syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RT1-Ba RT1 class II, locus Ba ISO CTD Direct Evidence: marker/mechanism CTD PMID:19790128 NCBI chr20:4,575,134...4,579,727
Ensembl chr20:4,575,134...4,579,744 		JBrowse link
G RT1-Db1 RT1 class II, locus Db1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19790128 NCBI chr20:4,548,664...4,558,237
Ensembl chr20:4,548,666...4,558,258 		JBrowse link
eosinophilic esophagitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ang angiogenin ISO RGD PMID:22331014 RGD:6771318 NCBI chr15:24,312,711...24,323,361 JBrowse link
G Ankrd27 ankyrin repeat domain 27 ISO DNA:SNPs:intron: (rs3815700, rs10410895) (human) RGD PMID:25407941 RGD:11100048 NCBI chr 1:88,251,216...88,303,615
Ensembl chr 1:88,251,226...88,303,615 		JBrowse link
G Ccl26 C-C motif chemokine ligand 26 treatment ISO protein:increased expression:esophagus (human) RGD PMID:18844613 PMID:24704289 RGD:11081156, RGD:11081157 NCBI chr12:21,109,384...21,114,336
Ensembl chr12:21,109,421...21,114,335 		JBrowse link
G Ccr3 C-C motif chemokine receptor 3 ISO RGD PMID:1316818 RGD:6893390 NCBI chr 8:123,586,100...123,634,178
Ensembl chr 8:123,616,236...123,634,990 		JBrowse link
G Cd40lg CD40 ligand ISO protein:decreased expression:plasma RGD PMID:21211656 RGD:5490306 NCBI chr  X:135,127,052...135,138,768
Ensembl chr  X:135,126,969...135,138,306 		JBrowse link
G Cyp2c6 cytochrome P450, family 2, subfamily C, polypeptide 6 treatment ISO DNA:polymorphisms:: RGD PMID:26416193 RGD:11352743 NCBI chr 1:237,938,521...237,976,238
Ensembl chr 1:237,693,094...238,057,596 		JBrowse link
G Il5 interleukin 5 ISO RGD PMID:23161496 RGD:11354947 NCBI chr10:37,874,342...37,877,213
Ensembl chr10:37,874,342...37,877,213 		JBrowse link
G Pecam1 platelet and endothelial cell adhesion molecule 1 ISO protein:increased expression:esophagus (human) RGD PMID:22331014 RGD:6771318 NCBI chr10:91,590,521...91,652,279
Ensembl chr10:91,590,521...91,652,116 		JBrowse link
G Tgfb1 transforming growth factor, beta 1 ISO RGD PMID:24486052 RGD:11073602 NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847 		JBrowse link
G Tslp thymic stromal lymphopoietin ISO CTD Direct Evidence: marker/mechanism CTD PMID:20208534 NCBI chr18:24,447,409...24,454,244
Ensembl chr18:24,449,844...24,453,548 		JBrowse link
eosinophilic gastroenteritis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccl26 C-C motif chemokine ligand 26 ISO mRNA:increased expression:gastric antrum (human) RGD PMID:25234644 RGD:11081160 NCBI chr12:21,109,384...21,114,336
Ensembl chr12:21,109,421...21,114,335 		JBrowse link
G Il5 interleukin 5 ISO protein:increased expression:intestine, eosinophil RGD PMID:8608886 RGD:11354940 NCBI chr10:37,874,342...37,877,213
Ensembl chr10:37,874,342...37,877,213 		JBrowse link
Eosinophilic Pustular Folliculitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccl26 C-C motif chemokine ligand 26 ISO protein:increased expression:skin, sebocyte (human) RGD PMID:22206772 RGD:11081159 NCBI chr12:21,109,384...21,114,336
Ensembl chr12:21,109,421...21,114,335 		JBrowse link
extranodal marginal zone lymphoma of mucosa-associated lymphoid tissue term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bcl10 BCL10, immune signaling adaptor ISO ClinVar Annotator: match by term: MALT lymphoma ClinVar
OMIM		 PMID:9989495 PMID:10380920 PMID:10408400 NCBI chr 2:234,840,880...234,850,520
Ensembl chr 2:234,840,858...234,850,523 		JBrowse link
G Birc3 baculoviral IAP repeat-containing 3 treatment ISO DNA:gene fusion: (human) RGD PMID:21465313 RGD:153305955 NCBI chr 8:5,000,844...5,028,470
Ensembl chr 8:5,000,845...5,015,802 		JBrowse link
G Cxcr4 C-X-C motif chemokine receptor 4 ISO protein:increased expression: mucosa-associated lymphoid tissue (human) RGD PMID:27544389 RGD:152023632 NCBI chr13:40,077,976...40,081,883
Ensembl chr13:40,077,976...40,081,883 		JBrowse link
G RT1-Ba RT1 class II, locus Ba treatment ISO associated with Helicobacter Infections; DNA:polymorphim, haplotype: :HLA-DQA1*0103 (human) RGD PMID:16234023 RGD:5147794 NCBI chr20:4,575,134...4,579,727
Ensembl chr20:4,575,134...4,579,744 		JBrowse link
Febrile Neutropenia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccl2 C-C motif chemokine ligand 2 ISO associated with Hematologic Diseases;protein:increased expression:plasma (human) RGD PMID:23369970 RGD:11528559 NCBI chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226 		JBrowse link
follicular dendritic cell sarcoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Stat3 signal transducer and activator of transcription 3 ISO ClinVar Annotator: match by term: EBV-Positive Inflammatory Follicular Dendritic Cell Sarcoma ClinVar PMID:24797340 PMID:25586472 PMID:25741868 PMID:28356514 PMID:28492532 More... NCBI chr10:85,811,206...85,863,057
Ensembl chr10:85,811,218...85,863,057 		JBrowse link
follicular lymphoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp6ap1 ATPase H+ transporting accessory protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26691987 NCBI chr  X:152,079,954...152,087,034
Ensembl chr  X:152,079,865...152,087,034 		JBrowse link
G Atp6v1b2 ATPase H+ transporting V1 subunit B2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26691987 NCBI chr16:20,617,515...20,641,651
Ensembl chr16:20,617,518...20,641,745 		JBrowse link
G Bcl10 BCL10, immune signaling adaptor ISO ClinVar Annotator: match by term: Follicular lymphoma ClinVar PMID:9989495 NCBI chr 2:234,840,880...234,850,520
Ensembl chr 2:234,840,858...234,850,523 		JBrowse link
G Bcl2 BCL2, apoptosis regulator susceptibility ISO DNA:translocation: ;t(14;18)(q32;q21)
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:3287162 PMID:12855623 PMID:16671111 PMID:3287162 RGD:1599473, RGD:734639 NCBI chr13:22,689,783...22,853,920
Ensembl chr13:22,684,989...22,853,743
Ensembl chr13:22,684,989...22,853,743 		JBrowse link
G Cd40 CD40 molecule susceptibility ISO DNA:SNP:5' utr:c.-1C>T (rs1883832) (human) RGD PMID:20473910 RGD:5490541 NCBI chr 3:153,790,372...153,805,279
Ensembl chr 3:153,790,449...153,805,534 		JBrowse link
G Cd40lg CD40 ligand ISO human gene in a mouse model RGD PMID:25582824 RGD:11344981 NCBI chr  X:135,127,052...135,138,768
Ensembl chr  X:135,126,969...135,138,306 		JBrowse link
G Cd79b CD79b molecule treatment ISO human cells in mouse model RGD PMID:17374736 RGD:151665154 NCBI chr10:91,239,354...91,242,500
Ensembl chr10:91,239,356...91,242,625 		JBrowse link
G Crebbp CREB binding protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:24362818 NCBI chr10:11,335,551...11,461,888
Ensembl chr10:11,335,953...11,461,888 		JBrowse link
G Ebf1 EBF transcription factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24362818 NCBI chr10:29,095,858...29,489,142
Ensembl chr10:29,099,933...29,487,665 		JBrowse link
G Ezh2 enhancer of zeste 2 polycomb repressive complex 2 subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:24362818 NCBI chr 4:76,624,399...76,687,362
Ensembl chr 4:76,624,399...76,687,362 		JBrowse link
G Irf4 interferon regulatory factor 4 severity ISO RGD PMID:17296585 RGD:11530032 NCBI chr17:33,721,800...33,742,570
Ensembl chr17:33,721,811...33,740,070 		JBrowse link
G Kdsr 3-ketodihydrosphingosine reductase ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:25526675 PMID:8417785 RGD:1598985 NCBI chr13:22,862,117...22,894,118
Ensembl chr13:22,862,117...22,894,108 		JBrowse link
G Kmt2d lysine methyltransferase 2D ISO CTD Direct Evidence: marker/mechanism CTD PMID:24362818 NCBI chr 7:129,980,744...130,022,088
Ensembl chr 7:129,962,887...130,020,325 		JBrowse link
G Mthfr methylenetetrahydrofolate reductase ISO CTD Direct Evidence: marker/mechanism CTD PMID:16410450 NCBI chr 5:158,465,248...158,484,999
Ensembl chr 5:158,465,296...158,483,797 		JBrowse link
G Mtr 5-methyltetrahydrofolate-homocysteine methyltransferase ISO CTD Direct Evidence: marker/mechanism CTD PMID:16410450 NCBI chr17:58,219,998...58,308,560
Ensembl chr17:58,220,071...58,304,822 		JBrowse link
G Myd88 MYD88, innate immune signal transduction adaptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:24362818 NCBI chr 8:119,074,439...119,078,508
Ensembl chr 8:119,074,437...119,079,415 		JBrowse link
G Rarres1 retinoic acid receptor responder 1 ISS OMIM:151430 MouseDO NCBI chr 2:151,749,715...151,783,975
Ensembl chr 2:151,749,715...151,783,978 		JBrowse link
G Rragc Ras-related GTP binding C ISO CTD Direct Evidence: marker/mechanism CTD PMID:26691987 NCBI chr 5:136,148,239...136,167,773
Ensembl chr 5:136,148,276...136,167,767 		JBrowse link
G Tnfaip3 TNF alpha induced protein 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24362818 NCBI chr 1:13,709,211...13,724,291
Ensembl chr 1:13,709,206...13,725,282 		JBrowse link
G Tyms thymidylate synthetase ISO CTD Direct Evidence: marker/mechanism CTD PMID:16410450 NCBI chr 9:113,313,454...113,329,551
Ensembl chr 9:113,313,452...113,329,536 		JBrowse link
hereditary neutrophilia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Csf3r colony stimulating factor 3 receptor ISO
ISS		 OMIM:162830
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hereditary neutrophilia		 OMIM
MouseDO
CTD
ClinVar		 PMID:12203110 PMID:19620628 PMID:24753537 PMID:25741868 PMID:26324699 More... NCBI chr 5:138,298,605...138,318,224
Ensembl chr 5:138,301,506...138,317,881 		JBrowse link
hyper IgE recurrent infection syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cavin1 caveolae associated protein 1 ISO ClinVar Annotator: match by term: Hyper-IgE recurrent infection syndrome 1, autosomal dominant ClinVar PMID:28492532 NCBI chr10:85,884,100...85,896,136
Ensembl chr10:85,889,036...85,896,120 		JBrowse link
G Il4r interleukin 4 receptor no_association ISO DNA:mutation:cds:p.Q576R(human) RGD PMID:9537881 RGD:11530003 NCBI chr 1:180,115,061...180,139,981
Ensembl chr 1:180,115,120...180,139,980 		JBrowse link
G Il6st interleukin 6 cytokine family signal transducer ISO ClinVar Annotator: match by term: Hyper-IgE recurrent infection syndrome 1, autosomal dominant ClinVar PMID:25741868 PMID:32207811 NCBI chr 2:44,065,979...44,106,255
Ensembl chr 2:44,066,130...44,109,936 		JBrowse link
G Stat3 signal transducer and activator of transcription 3 ISO
ISS		 OMIM:147060
ClinVar Annotator: match by term: Autosomal Dominant Hyper IgE Syndrome | ClinVar Annotator: match by term: HYPER-IgE SYNDROME 1, AUTOSOMAL DOMINANT, WITH RECURRENT INFECTIONS | ClinVar Annotator: match by term: Hyper-IgE recurrent infection syndrome 1, autosomal dominant | ClinVar Annotator: match by term: Job syndrome | ClinVar Annotator: match by term: STAT3-Related Conditions
CTD Direct Evidence: marker/mechanism		 MouseDO
ClinVar
CTD
OMIM
RGD		 PMID:4161105 PMID:9536098 PMID:16199547 PMID:17576681 PMID:17676033 More... RGD:6892956 NCBI chr10:85,811,206...85,863,057
Ensembl chr10:85,811,218...85,863,057 		JBrowse link
G Stat5a signal transducer and activator of transcription 5A ISO ClinVar Annotator: match by term: Hyper-IgE recurrent infection syndrome 1, autosomal dominant ClinVar PMID:28492532 NCBI chr10:85,785,537...85,809,869
Ensembl chr10:85,785,537...85,809,866 		JBrowse link
G Stat5b signal transducer and activator of transcription 5B ISO ClinVar Annotator: match by term: Hyper-IgE recurrent infection syndrome 1, autosomal dominant ClinVar PMID:28492532 NCBI chr10:85,704,841...85,775,856
Ensembl chr10:85,705,670...85,775,668 		JBrowse link
hyper IgE recurrent infection syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccdc40 coiled-coil domain 40 molecular ruler complex subunit ISO ClinVar Annotator: match by term: HYPER-IgE SYNDROME 2, AUTOSOMAL RECESSIVE, WITH RECURRENT INFECTIONS ClinVar PMID:21131974 PMID:22693285 PMID:23255504 PMID:23891469 PMID:25741868 More... NCBI chr10:104,486,748...104,527,284
Ensembl chr10:104,486,748...104,527,243 		JBrowse link
G Dmrt1 doublesex and mab-3 related transcription factor 1 ISO ClinVar Annotator: match by term: HYPER-IgE SYNDROME 2, AUTOSOMAL RECESSIVE, WITH RECURRENT INFECTIONS ClinVar PMID:28492532 NCBI chr 1:223,142,859...223,241,333
Ensembl chr 1:223,142,859...223,241,333 		JBrowse link
G Dock8 dedicator of cytokinesis 8 ISO ClinVar Annotator: match by term: DOCK8-related condition | ClinVar Annotator: match by term: HYPER-IgE RECURRENT INFECTION SYNDROME 2, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: HYPER-IgE SYNDROME 2, AUTOSOMAL RECESSIVE, WITH RECURRENT INFECTIONS
DNA:mutation:cds:		 OMIM
ClinVar
RGD		 PMID:9536098 PMID:14722525 PMID:16199547 PMID:16391785 PMID:17576681 More... RGD:40907054 NCBI chr 1:222,649,309...222,842,474
Ensembl chr 1:222,649,309...222,842,474 		JBrowse link
G Kank1 KN motif and ankyrin repeat domains 1 ISO ClinVar Annotator: match by term: HYPER-IgE RECURRENT INFECTION SYNDROME 2, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: HYPER-IgE SYNDROME 2, AUTOSOMAL RECESSIVE, WITH RECURRENT INFECTIONS ClinVar PMID:28492532 NCBI chr 1:222,877,962...223,074,514
Ensembl chr 1:222,877,622...223,074,514 		JBrowse link
G Zng1a Zn regulated GTPase metalloprotein activator 1A ISO ClinVar Annotator: match by term: HYPER-IgE RECURRENT INFECTION SYNDROME 2, AUTOSOMAL RECESSIVE ClinVar PMID:33290277 NCBI chr 1:222,568,278...222,612,937
Ensembl chr 1:222,564,545...222,610,629 		JBrowse link
hyper IgE recurrent infection syndrome 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Zfp341 zinc finger protein 341 ISO ClinVar Annotator: match by term: HYPER-IgE SYNDROME 3, AUTOSOMAL RECESSIVE, WITH RECURRENT INFECTIONS | ClinVar Annotator: match by term: Hyper-IgE recurrent infection syndrome 3, autosomal recessive OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:29907690 PMID:29907691 NCBI chr 3:143,122,699...143,156,250
Ensembl chr 3:143,119,093...143,156,249 		JBrowse link
hyper IgE recurrent infection syndrome 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Il6st interleukin 6 cytokine family signal transducer ISO ClinVar Annotator: match by term: HYPER-IgE RECURRENT INFECTION SYNDROME 4B, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Hyper-IgE recurrent infection syndrome 4, autosomal recessive | ClinVar Annotator: match by term: Hyper-IgE recurrent infection syndrome 4A, autosomal dominant OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 PMID:28747427 More... NCBI chr 2:44,065,979...44,106,255
Ensembl chr 2:44,066,130...44,109,936 		JBrowse link
hyper IgE syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccdc40 coiled-coil domain 40 molecular ruler complex subunit ISO ClinVar Annotator: match by term: Hyper-IgE recurrent infection syndrome, autosomal recessive ClinVar PMID:21131974 PMID:22693285 PMID:23255504 PMID:23891469 PMID:25741868 More... NCBI chr10:104,486,748...104,527,284
Ensembl chr10:104,486,748...104,527,243 		JBrowse link
G Dmrt1 doublesex and mab-3 related transcription factor 1 ISO ClinVar Annotator: match by term: Hyper-IgE recurrent infection syndrome, autosomal recessive ClinVar PMID:28492532 NCBI chr 1:223,142,859...223,241,333
Ensembl chr 1:223,142,859...223,241,333 		JBrowse link
G Dock8 dedicator of cytokinesis 8 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Autosomal recessive hyper-IgE syndrome | ClinVar Annotator: match by term: HIES autosomal recessive | ClinVar Annotator: match by term: Hyper-IgE recurrent infection syndrome, autosomal recessive | ClinVar Annotator: match by term: Hyper-IgE syndrome | ClinVar Annotator: match by term: Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive		 CTD
ClinVar		 PMID:9536098 PMID:14722525 PMID:16199547 PMID:16391785 PMID:17576681 More... NCBI chr 1:222,649,309...222,842,474
Ensembl chr 1:222,649,309...222,842,474 		JBrowse link
G Dop1a DOP1 leucine zipper like protein A ISO ClinVar Annotator: match by term: Hyper-IgE syndrome ClinVar PMID:24698316 NCBI chr 8:87,415,266...87,517,935
Ensembl chr 8:87,414,593...87,518,353 		JBrowse link
G Ifng interferon gamma ISO CTD Direct Evidence: marker/mechanism CTD PMID:16112032 NCBI chr 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375 		JBrowse link
G Kank1 KN motif and ankyrin repeat domains 1 ISO ClinVar Annotator: match by term: Hyper-IgE recurrent infection syndrome, autosomal recessive ClinVar PMID:28492532 NCBI chr 1:222,877,962...223,074,514
Ensembl chr 1:222,877,622...223,074,514 		JBrowse link
G Pgm3 phosphoglucomutase 3 ISO ClinVar Annotator: match by term: Hyper-IgE syndrome ClinVar PMID:3500672 PMID:24698316 NCBI chr 8:87,518,317...87,536,021
Ensembl chr 8:87,517,701...87,536,022 		JBrowse link
G Stat3 signal transducer and activator of transcription 3 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hyper-IgE syndrome		 CTD
ClinVar		 PMID:17881745 PMID:18591412 PMID:18602572 PMID:18706697 PMID:18978467 More... NCBI chr10:85,811,206...85,863,057
Ensembl chr10:85,811,218...85,863,057 		JBrowse link
G Zng1a Zn regulated GTPase metalloprotein activator 1A ISO ClinVar Annotator: match by term: Hyper-IgE recurrent infection syndrome, autosomal recessive ClinVar PMID:33290277 NCBI chr 1:222,568,278...222,612,937
Ensembl chr 1:222,564,545...222,610,629 		JBrowse link
Hyper-IgE Recurrent Infection Syndrome 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Il6r interleukin 6 receptor ISO ClinVar Annotator: match by term: Hyper-IgE recurrent infection syndrome 5, autosomal recessive OMIM
ClinVar		 PMID:8467812 PMID:25741868 PMID:28492532 PMID:31235509 NCBI chr 2:175,289,157...175,347,719
Ensembl chr 2:175,298,686...175,347,536 		JBrowse link
Hyper-IgE Recurrent Infection Syndrome 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Stat6 signal transducer and activator of transcription 6 ISO ClinVar Annotator: match by term: Hyper-IgE syndrome 6, autosomal dominant, with recurrent infections OMIM
ClinVar		 PMID:36884218 PMID:37316763 NCBI chr 7:63,480,229...63,497,551
Ensembl chr 7:63,479,642...63,498,495 		JBrowse link
hypereosinophilic syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G F5 coagulation factor V ISO RGD PMID:15026880 RGD:1580361 NCBI chr13:76,513,509...76,583,106
Ensembl chr13:76,513,255...76,582,317 		JBrowse link
G Fip1l1 factor interacting with PAPOLA and CPSF1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16778211 PMID:28347583 PMID:31036733 NCBI chr14:33,615,210...33,675,742
Ensembl chr14:33,617,720...33,675,708 		JBrowse link
G Pdgfra platelet derived growth factor receptor alpha ISO DNA:translocation: (human)
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hypereosinophilic syndrome, idiopathic, resistant to imatinib | ClinVar Annotator: match by term: Idiopathic hypereosinophilic syndrome		 OMIM
CTD
ClinVar
RGD		 PMID:9536098 PMID:12660384 PMID:16778211 PMID:17576681 PMID:20071345 More... RGD:9693733 NCBI chr14:33,005,838...33,054,347
Ensembl chr14:33,005,839...33,054,335 		JBrowse link
G Tnfsf8 TNF superfamily member 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:8896393 NCBI chr 5:77,250,942...77,277,364
Ensembl chr 5:77,251,373...77,277,421 		JBrowse link
ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cldn1 claudin 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: CLDN1-related condition | ClinVar Annotator: match by term: Neonatal ichthyosis-sclerosing cholangitis syndrome
DNA:deletion, nonsense mutation:exon:200_201delTT(human)		 OMIM
CTD
ClinVar
RGD		 PMID:12164927 PMID:15521008 PMID:16619213 PMID:25741868 PMID:28492532 More... RGD:11341732 NCBI chr11:74,421,569...74,436,728
Ensembl chr11:74,421,569...74,436,724 		JBrowse link
G Cldn16 claudin 16 ISO ClinVar Annotator: match by term: CLDN1-related condition | ClinVar Annotator: match by term: Neonatal ichthyosis-sclerosing cholangitis syndrome ClinVar PMID:12164927 PMID:15521008 PMID:16619213 PMID:25741868 PMID:28492532 NCBI chr11:74,290,298...74,309,588
Ensembl chr11:74,290,298...74,309,588 		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 chr10:63,237,862...63,243,339
Ensembl chr10:63,237,903...63,243,339 		JBrowse link
IMMUNODEFICIENCY 100 WITH PULMONARY ALVEOLAR PROTEINOSIS AND HYPOGAMMAGLOBULINEMIA term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Oas1a 2'-5' oligoadenylate synthetase 1A ISO ClinVar Annotator: match by term: OAS1-related condition | ClinVar Annotator: match by term: Pulmonary alveolar proteinosis with hypogammaglobulinemia OMIM
ClinVar		 PMID:16014697 PMID:25741868 PMID:28492532 PMID:29185156 PMID:29455859 More... NCBI chr12:35,669,798...35,680,505
Ensembl chr12:35,669,801...35,680,517 		JBrowse link
IMMUNODEFICIENCY 108 WITH AUTOINFLAMMATION term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cebpe CCAAT/enhancer binding protein epsilon ISO ClinVar Annotator: match by term: CEBPE-related condition | ClinVar Annotator: match by term: Pelger-Huet-like anomaly and episodic fever with abdominal pain OMIM
ClinVar		 PMID:4831644 PMID:25741868 PMID:28492532 PMID:31201888 NCBI chr15:28,169,711...28,171,471
Ensembl chr15:28,169,704...28,171,814 		JBrowse link
immunodeficiency 32B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fendrr FOXF1 adjacent non-coding developmental regulatory RNA ISO ClinVar Annotator: match by term: Immunodeficiency 32B ClinVar PMID:28492532 NCBI chr19:49,127,225...49,152,780
Ensembl chr19:49,121,214...49,153,240 		JBrowse link
G Foxc2 forkhead box C2 ISO ClinVar Annotator: match by term: Immunodeficiency 32B ClinVar PMID:28492532 NCBI chr19:49,186,034...49,188,736
Ensembl chr19:49,185,662...49,188,737 		JBrowse link
G Foxf1 forkhead box F1 ISO ClinVar Annotator: match by term: Immunodeficiency 32B ClinVar PMID:28492532 NCBI chr19:49,153,949...49,157,741
Ensembl chr19:49,153,699...49,157,738 		JBrowse link
G Irf8 interferon regulatory factor 8 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Immunodeficiency 32B		 CTD
ClinVar
OMIM		 PMID:6279813 PMID:9536098 PMID:16199547 PMID:17576681 PMID:21524210 More... NCBI chr19:48,790,581...48,812,363
Ensembl chr19:48,790,588...48,811,829 		JBrowse link
G Mthfsd methenyltetrahydrofolate synthetase domain containing ISO ClinVar Annotator: match by term: Immunodeficiency 32B ClinVar PMID:28492532 NCBI chr19:49,164,266...49,178,233
Ensembl chr19:49,167,183...49,178,232 		JBrowse link
immunodeficiency 34 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cybb cytochrome b-245 beta chain ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: X-linked Mendelian susceptibility to mycobacterial diseases due to CYBB deficiency		 OMIM
CTD
ClinVar		 PMID:8634410 PMID:8655140 PMID:8900212 PMID:8916969 PMID:9536098 More... NCBI chr  X:13,358,101...13,392,570
Ensembl chr  X:13,359,430...13,392,586 		JBrowse link
immunodeficiency 35 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tyk2 tyrosine kinase 2 ISO ClinVar Annotator: match by term: Immunodeficiency 35 | ClinVar Annotator: match by term: Susceptibility to infection due to TYK2 deficiency | ClinVar Annotator: match by term: TYK2 DEFICIENCY
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:14500783 PMID:16199547 PMID:17088085 PMID:17576681 More... NCBI chr 8:19,641,881...19,667,157
Ensembl chr 8:19,641,884...19,667,044 		JBrowse link
immunodeficiency 59 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hyou1 hypoxia up-regulated 1 ISO ClinVar Annotator: match by term: Granulocytopenia with immunoglobulin abnormality | ClinVar Annotator: match by term: HYOU1-related condition OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:25741868 PMID:27913302 PMID:28492532 NCBI chr 8:44,706,073...44,718,189
Ensembl chr 8:44,706,263...44,718,186 		JBrowse link
immunodeficiency 71 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arpc1b actin related protein 2/3 complex, subunit 1B ISO ClinVar Annotator: match by term: ARPC1B-related condition | ClinVar Annotator: match by term: Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:25741868 PMID:27965109 More... NCBI chr12:9,482,176...9,495,772
Ensembl chr12:9,480,831...9,495,747 		JBrowse link
infectious mononucleosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fas Fas cell surface death receptor ISO protein:increased expression:monocyte, neutrophil, serum: RGD PMID:11185989 RGD:11049152 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 protein:increased expression:lymphocyte, serum: RGD PMID:11185989 RGD:11049152 NCBI chr13:74,151,519...74,172,760
Ensembl chr13:74,154,954...74,162,215 		JBrowse link
G Foxp3 forkhead box P3 disease_progression ISO RGD PMID:23628056 RGD:38501103 NCBI chr  X:14,908,494...14,924,994
Ensembl chr  X:14,908,494...14,923,838 		JBrowse link
G Gstm1 glutathione S-transferase mu 1 susceptibility ISO RGD PMID:22537952 RGD:10450797 NCBI chr 2:195,649,845...195,655,402
Ensembl chr 2:195,649,845...195,655,411 		JBrowse link
G Gstt1 glutathione S-transferase theta 1 susceptibility ISO RGD PMID:22537952 RGD:10450797 NCBI chr20:12,856,613...12,873,586
Ensembl chr20:12,856,669...12,873,585 		JBrowse link
G Il27 interleukin 27 ISO protein:increased expression:blood serum (human) RGD PMID:33571934 RGD:126790542 NCBI chr 1:181,173,108...181,178,720
Ensembl chr 1:181,173,372...181,178,582 		JBrowse link
G RT1-Db1 RT1 class II, locus Db1 susceptibility ISO DNA:polymorphism:cds:HLA-DRB1*0101 (human) RGD PMID:21482926 RGD:40818406 NCBI chr20:4,548,664...4,558,237
Ensembl chr20:4,548,666...4,558,258 		JBrowse link
G Sod2 superoxide dismutase 2 ISO RGD PMID:7964476 RGD:11035288 NCBI chr 1:47,638,318...47,645,163
Ensembl chr 1:47,636,528...47,645,189 		JBrowse link
JOINT CONTRACTURES, OSTEOCHONDROMAS, AND B-CELL LYMPHOMA term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nfatc2 nuclear factor of activated T-cells 2 ISO OMIM NCBI chr 3:157,195,970...157,328,640
Ensembl chr 3:157,198,872...157,328,325 		JBrowse link
Lazy Leukocyte Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Wdr1 WD repeat domain 1 ISO ClinVar Annotator: match by term: Lazy leukocyte syndrome | ClinVar Annotator: match by term: WDR1-related condition OMIM
ClinVar		 PMID:205284 PMID:25741868 PMID:27557945 PMID:27994071 PMID:28492532 More... NCBI chr14:72,258,032...72,291,768
Ensembl chr14:72,257,956...72,291,766 		JBrowse link
Leukemoid Reaction term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Jak3 Janus kinase 3 ISO ClinVar Annotator: match by term: Leukemoid reaction ClinVar PMID:18397343 PMID:20400977 PMID:28492532 NCBI chr16:18,386,330...18,398,542
Ensembl chr16:18,386,405...18,398,536 		JBrowse link
leukocyte adhesion deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fermt3 FERM domain containing kindlin 3 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:204,189,483...204,207,683
Ensembl chr 1:204,189,484...204,207,587 		JBrowse link
G Itgb2 integrin subunit beta 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Leukocyte adhesion deficiency
DNA:deletion, nonsense mutations:exons:1622_1657del, 2200G>T (human)
DNA:mutations:multiple
DNA:mutation:exon:p.R188X(human)
DNA:mutations:cds:p.D231H, G284S (human)		 CTD
ClinVar
RGD		 PMID:9653089 PMID:1968911 PMID:14512306 PMID:20549317 PMID:21103413 More... RGD:1600220, RGD:6482225, RGD:6482224, RGD:6482223, RGD:6482222 NCBI chr20:11,061,394...11,097,656
Ensembl chr20:11,061,430...11,097,600 		JBrowse link
leukocyte adhesion deficiency 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fermt3 FERM domain containing kindlin 3 ISO DNA:nonsense mutations:exon:p.R509X, p.R573X, p.W229X (human) RGD PMID:19064721 RGD:11352306 NCBI chr 1:204,189,483...204,207,683
Ensembl chr 1:204,189,484...204,207,587 		JBrowse link
G Itgb2 integrin subunit beta 2 susceptibility ISO
ISS		 ClinVar Annotator: match by term: Leukocyte adhesion deficiency 1
OMIM:116920
CTD Direct Evidence: marker/mechanism
DNA:polymorphisms:multiple (human)		 OMIM
ClinVar
MouseDO
CTD
RGD		 PMID:1346132 PMID:1346613 PMID:1347532 PMID:1590804 PMID:1694220 More... RGD:6482224 NCBI chr20:11,061,394...11,097,656
Ensembl chr20:11,061,430...11,097,600 		JBrowse link
G Ttn titin ISO ClinVar Annotator: match by term: LEUKOCYTE ADHESION DEFICIENCY, TYPE I ClinVar PMID:9536098 PMID:17576681 PMID:25589632 PMID:26639818 PMID:27493940 More... NCBI chr 3:61,652,432...61,924,912
Ensembl chr 3:61,652,439...61,924,741 		JBrowse link
leukocyte adhesion deficiency 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ahnak AHNAK nucleoprotein ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 1:205,882,225...205,970,934
Ensembl chr 1:205,882,273...205,970,926 		JBrowse link
G Arl2 ADP-ribosylation factor like GTPase 2 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 1:203,434,129...203,446,156
Ensembl chr 1:203,434,129...203,446,119 		JBrowse link
G Asrgl1 asparaginase and isoaspartyl peptidase 1 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 1:206,006,103...206,027,115
Ensembl chr 1:206,006,109...206,027,108 		JBrowse link
G Atg2a autophagy related 2A ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 1:203,542,559...203,562,242
Ensembl chr 1:203,542,559...203,562,242 		JBrowse link
G Atl3 atlastin GTPase 3 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 1:204,680,958...204,727,360
Ensembl chr 1:204,680,968...204,723,354 		JBrowse link
G B3gat3 beta-1,3-glucuronyltransferase 3 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 1:205,817,374...205,823,928
Ensembl chr 1:205,817,378...205,837,807 		JBrowse link
G Bad BCL2-associated agonist of cell death ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 1:204,133,502...204,142,829
Ensembl chr 1:204,131,501...204,142,823 		JBrowse link
G Batf2 basic leucine zipper ATF-like transcription factor 2 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 1:203,467,291...203,479,428
Ensembl chr 1:203,468,097...203,475,889 		JBrowse link
G Best1 bestrophin 1 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 1:206,629,340...206,646,085
Ensembl chr 1:206,629,500...206,646,063 		JBrowse link
G Bscl2 BSCL2 lipid droplet biogenesis associated, seipin ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 1:205,731,828...205,743,430
Ensembl chr 1:205,733,872...205,743,421 		JBrowse link
G Capn1 calpain 1 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 1:203,275,912...203,300,848
Ensembl chr 1:203,277,344...203,300,177 		JBrowse link
G Catsperz catsper channel auxiliary subunit zeta ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 1:204,114,816...204,118,582 JBrowse link
G Cblif cobalamin binding intrinsic factor ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 1:208,605,983...208,620,231
Ensembl chr 1:208,605,983...208,620,344 		JBrowse link
G Ccdc86 coiled-coil domain containing 86 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 1:207,590,167...207,596,547
Ensembl chr 1:207,590,168...207,596,544 		JBrowse link
G Ccdc88b coiled-coil domain containing 88B ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 1:204,036,913...204,052,878
Ensembl chr 1:204,036,918...204,052,970 		JBrowse link
G Cd5 Cd5 molecule ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 1:207,365,337...207,386,313
Ensembl chr 1:207,365,337...207,386,313 		JBrowse link
G Cd6 Cd6 molecule ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 1:207,442,873...207,481,703
Ensembl chr 1:207,442,877...207,481,634 		JBrowse link
G Cdc42bpg CDC42 binding protein kinase gamma ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 1:203,608,339...203,628,502
Ensembl chr 1:203,608,574...203,628,502 		JBrowse link
G Cdca5 cell division cycle associated 5 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 1:203,378,550...203,392,027
Ensembl chr 1:203,378,577...203,392,023 		JBrowse link
G Chrm1 cholinergic receptor, muscarinic 1 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 1:205,567,226...205,583,001
Ensembl chr 1:205,567,220...205,582,356 		JBrowse link
G Cox8a cytochrome c oxidase subunit 8A ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 1:204,402,118...204,404,439 JBrowse link
G Cpsf7 cleavage and polyadenylation specific factor 7 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 1:207,167,690...207,191,938
Ensembl chr 1:207,167,859...207,191,905 		JBrowse link
G Cyb561a3 cytochrome b561 family, member A3 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 1:207,216,185...207,237,575
Ensembl chr 1:207,226,230...207,237,571 		JBrowse link
G Cym chymosin ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 2:194,828,739...194,839,096
Ensembl chr 2:194,828,739...194,839,096 		JBrowse link
G Dagla diacylglycerol lipase, alpha ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 1:206,890,635...206,947,332
Ensembl chr 1:206,890,638...206,947,232 		JBrowse link
G Ddb1 damage-specific DNA binding protein 1 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 1:207,252,890...207,278,685
Ensembl chr 1:207,252,890...207,278,676 		JBrowse link
G Dnajc4 DnaJ heat shock protein family (Hsp40) member C4 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 1:204,178,189...204,182,412
Ensembl chr 1:204,178,191...204,182,387 		JBrowse link
G Dtx4 deltex E3 ubiquitin ligase 4 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 1:209,457,719...209,545,163
Ensembl chr 1:209,460,735...209,492,818 		JBrowse link
G Eef1g eukaryotic translation elongation factor 1 gamma ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 1:205,860,713...205,871,319
Ensembl chr 1:205,860,698...205,872,382 		JBrowse link
G Ehd1 EH-domain containing 1 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 1:203,579,850...203,602,226
Ensembl chr 1:203,579,869...203,602,212 		JBrowse link
G Eml3 EMAP like 3 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 1:205,826,354...205,837,790
Ensembl chr 1:205,817,378...205,837,807 		JBrowse link
G Esrra estrogen related receptor, alpha ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 1:204,104,100...204,114,182
Ensembl chr 1:204,104,101...204,114,268 		JBrowse link
G Fads1 fatty acid desaturase 1 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 1:206,827,724...206,842,734
Ensembl chr 1:206,827,765...206,842,734 		JBrowse link
G Fads2 fatty acid desaturase 2 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 1:206,707,384...206,747,333
Ensembl chr 1:206,708,783...206,748,789 		JBrowse link
G Fads3 fatty acid desaturase 3 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 1:206,685,667...206,702,538
Ensembl chr 1:206,685,894...206,704,769 		JBrowse link
G Fam111a FAM111 trypsin like peptidase A ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 1:209,640,865...209,656,551
Ensembl chr 1:209,640,953...209,656,547 		JBrowse link
G Fau FAU ubiquitin like and ribosomal protein S30 fusion ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 1:203,350,226...203,351,741
Ensembl chr 1:203,350,189...203,351,742 		JBrowse link
G Fen1 flap structure-specific endonuclease 1 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 1:206,845,126...206,849,821
Ensembl chr 1:206,844,884...206,850,003 		JBrowse link
G Fermt3 FERM domain containing kindlin 3 ISO
ISS		 ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3
OMIM:612840
CTD Direct Evidence: marker/mechanism
DNA:nonsense mutation, splice-site mutation:exon:p.R509X (1525C>T) (human)		 OMIM
ClinVar
MouseDO
CTD
RGD		 PMID:9536098 PMID:12511588 PMID:16199547 PMID:17576681 PMID:18779414 More... RGD:11352305 NCBI chr 1:204,189,483...204,207,683
Ensembl chr 1:204,189,484...204,207,587 		JBrowse link
G Flrt1 fibronectin leucine rich transmembrane protein 1 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 1:204,275,785...204,292,844
Ensembl chr 1:204,275,367...204,353,750 		JBrowse link
G Fth1 ferritin heavy chain 1 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 1:206,627,142...206,629,430
Ensembl chr 1:206,627,103...206,725,424 		JBrowse link
G Ganab glucosidase II alpha subunit ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 1:205,793,910...205,813,704
Ensembl chr 1:205,793,895...205,813,695 		JBrowse link
G Gng3 G protein subunit gamma 3 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 1:205,731,837...205,733,603
Ensembl chr 1:205,731,837...205,733,603 		JBrowse link
G Gpha2 glycoprotein hormone subunit alpha 2 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 1:203,525,952...203,527,271
Ensembl chr 1:203,526,122...203,527,270 		JBrowse link
G Gpr137 G protein-coupled receptor 137 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 1:204,129,636...204,132,622
Ensembl chr 1:204,129,636...204,133,082 		JBrowse link
G Hnrnpul2 heterogeneous nuclear ribonucleoprotein U-like 2 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 1:205,713,431...205,725,553
Ensembl chr 1:205,711,886...205,725,553 		JBrowse link
G Incenp inner centromere protein ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 1:206,520,655...206,550,575
Ensembl chr 1:206,523,380...206,553,265 		JBrowse link
G Ints5 integrator complex subunit 5 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 1:205,788,906...205,793,685
Ensembl chr 1:205,788,906...205,793,685 		JBrowse link
G Itgb2 integrin subunit beta 2 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:25741868 NCBI chr20:11,061,394...11,097,656
Ensembl chr20:11,061,430...11,097,600 		JBrowse link
G Kcnk4 potassium two pore domain channel subfamily K member 4 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 1:204,117,941...204,129,494
Ensembl chr 1:204,114,572...204,125,925 		JBrowse link
G Lgals12 galectin 12 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 1:204,832,065...204,842,759
Ensembl chr 1:204,832,065...204,842,759 		JBrowse link
G Lrrc10b leucine rich repeat containing 10B ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 1:207,096,471...207,097,699
Ensembl chr 1:207,022,919...207,098,045 		JBrowse link
G Lrrn4cl LRRN4 C-terminal like ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 1:205,743,580...205,759,879 JBrowse link
G Macrod1 mono-ADP ribosylhydrolase 1 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 1:204,246,238...204,387,027
Ensembl chr 1:204,246,166...204,389,716 		JBrowse link
G Majin membrane anchored junction protein ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 1:203,487,777...203,524,098
Ensembl chr 1:203,488,069...203,524,092 		JBrowse link
G Map4k2 mitogen activated protein kinase kinase kinase kinase 2 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 1:203,645,098...203,660,782
Ensembl chr 1:203,645,153...203,660,331 		JBrowse link
G Mark2 microtubule affinity regulating kinase 2 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 1:204,461,029...204,526,247
Ensembl chr 1:204,461,030...204,525,652 		JBrowse link
G Men1 menin 1 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 1:203,638,905...203,644,871
Ensembl chr 1:203,639,000...203,644,871 		JBrowse link
G Mir192 microRNA 192 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 1:203,564,946...203,565,055
Ensembl chr 1:203,564,946...203,565,055 		JBrowse link
G Mir194-2 microRNA 194-2 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 1:203,564,761...203,564,845
Ensembl chr 1:203,564,761...203,564,845 		JBrowse link
G Mpeg1 macrophage expressed 1 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 1:209,452,176...209,456,692
Ensembl chr 1:209,452,133...209,458,855 		JBrowse link
G Mrpl16 mitochondrial ribosomal protein L16 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 1:208,633,671...208,638,483
Ensembl chr 1:208,633,586...208,640,667 		JBrowse link
G Mrpl49 mitochondrial ribosomal protein L49 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 1:203,346,068...203,350,040
Ensembl chr 1:203,332,481...203,350,049 		JBrowse link
G Ms4a1 membrane spanning 4-domains A1 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 1:207,906,370...207,927,028
Ensembl chr 1:207,906,374...207,918,512 		JBrowse link
G Ms4a10 membrane spanning 4-domains A10 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 1:207,611,312...207,624,452
Ensembl chr 1:207,611,312...207,624,452 		JBrowse link
G Ms4a12 membrane spanning 4-domains A12 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 1:207,881,065...207,894,633
Ensembl chr 1:207,882,333...207,893,938 		JBrowse link
G Ms4a13-ps1 membrane spanning 4-domains A13, pseudogene 1 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 1:207,843,457...207,872,137
Ensembl chr 1:207,843,432...207,872,137 		JBrowse link
G Ms4a14 membrane spanning 4-domains A14 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 1:207,949,423...207,964,937
Ensembl chr 1:207,949,426...207,964,937 		JBrowse link
G Ms4a15 membrane spanning 4-domains A15 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 1:207,628,305...207,641,799
Ensembl chr 1:207,628,305...207,641,799 		JBrowse link
G Ms4a18 membrane spanning 4-domains A18 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 1:207,644,858...207,662,471
Ensembl chr 1:207,645,780...207,665,793 		JBrowse link
G Ms4a2 membrane spanning 4-domains A2 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 1:208,440,179...208,448,716
Ensembl chr 1:208,440,361...208,448,310 		JBrowse link
G Ms4a3 membrane spanning 4-domains A3 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 1:208,462,300...208,480,129
Ensembl chr 1:208,462,301...208,480,101 		JBrowse link
G Ms4a4a membrane spanning 4-domains A4A ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 1:208,060,507...208,085,121
Ensembl chr 1:208,046,971...208,085,119 		JBrowse link
G Ms4a5 membrane spanning 4-domains A5 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 1:207,927,057...207,934,886
Ensembl chr 1:207,927,052...207,934,836 		JBrowse link
G Ms4a6a membrane spanning 4-domains A6A ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 1:208,401,465...208,414,831
Ensembl chr 1:208,401,466...208,414,758 		JBrowse link
G Ms4a7 membrane spanning 4-domains A7 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 1:207,969,117...207,984,743
Ensembl chr 1:207,968,761...207,983,260 		JBrowse link
G Ms4a8 membrane spanning 4-domains A8 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 1:207,730,665...207,744,260
Ensembl chr 1:207,730,665...207,744,324 		JBrowse link
G Mta2 metastasis associated 1 family, member 2 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 1:205,838,181...205,846,903
Ensembl chr 1:205,837,964...205,846,946 		JBrowse link
G Myrf myelin regulatory factor ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 1:206,854,175...206,886,276
Ensembl chr 1:206,854,175...206,886,157 		JBrowse link
G Naa40 N(alpha)-acetyltransferase 40, NatD catalytic subunit ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 1:204,410,636...204,430,890
Ensembl chr 1:204,413,498...204,430,717 		JBrowse link
G Naaladl1 N-acetylated alpha-linked acidic dipeptidase-like 1 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 1:203,400,632...203,414,195
Ensembl chr 1:203,400,631...203,414,195 		JBrowse link
G Nrxn2 neurexin 2 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 1:203,726,420...203,842,301
Ensembl chr 1:203,735,753...203,842,297 		JBrowse link
G Nudt22 nudix hydrolase 22 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 1:204,182,797...204,186,421
Ensembl chr 1:204,182,802...204,186,280 		JBrowse link
G Nxf1 nuclear RNA export factor 1 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 1:205,655,442...205,668,637
Ensembl chr 1:205,655,375...205,668,636 		JBrowse link
G Oosp2 oocyte secreted protein 2 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 1:208,480,265...208,496,843
Ensembl chr 1:208,484,500...208,496,216 		JBrowse link
G Or10v1 olfactory receptor family 10 subfamily V member 1 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 1:208,807,725...208,808,654
Ensembl chr 1:208,792,327...208,812,306 		JBrowse link
G Or4d10 olfactory receptor family 4 subfamily D member 10 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 1:208,997,300...208,998,235
Ensembl chr 1:208,996,643...209,001,372 		JBrowse link
G Or4d10c olfactory receptor family 4 subfamily D member 10C ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 1:209,016,663...209,017,598
Ensembl chr 1:209,015,124...209,020,125 		JBrowse link
G Or4d11 olfactory receptor family 4 subfamily D member 11 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 1:208,967,493...208,968,425
Ensembl chr 1:208,963,281...208,972,531 		JBrowse link
G Or4d6 olfactory receptor family 4 subfamily D member 6 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 1:209,039,073...209,040,017
Ensembl chr 1:209,037,992...209,045,985 		JBrowse link
G Or5a1 olfactory receptor family 5 subfamily A member 1 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 1:209,050,800...209,051,753
Ensembl chr 1:209,048,306...209,056,709 		JBrowse link
G Or5a21 olfactory receptor family 5 subfamily A member 21 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 1:209,317,575...209,318,534
Ensembl chr 1:209,313,855...209,320,529 		JBrowse link
G Or5an1 olfactory receptor family 5 subfamily AN member 1 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 1:209,241,571...209,242,510
Ensembl chr 1:209,241,571...209,242,510 		JBrowse link
G Osbp oxysterol binding protein ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 1:208,888,697...208,918,511
Ensembl chr 1:208,887,895...208,918,506 		JBrowse link
G Otub1 OTU deubiquitinase, ubiquitin aldehyde binding 1 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 1:204,387,215...204,395,495
Ensembl chr 1:204,387,215...204,395,483 		JBrowse link
G Patl1 PAT1 homolog 1, processing body mRNA decay factor ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 1:208,831,115...208,862,904
Ensembl chr 1:208,831,115...208,862,857 		JBrowse link
G Pga5 pepsinogen A5 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 1:207,317,021...207,327,156
Ensembl chr 1:207,317,021...207,327,156 		JBrowse link
G Plaat3 phospholipase A and acyltransferase 3 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 1:204,782,608...204,816,397
Ensembl chr 1:204,782,729...204,817,667 		JBrowse link
G Plaat5 phospholipase A and acyltransferase 5 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 1:204,847,600...204,878,456
Ensembl chr 1:204,847,600...204,878,184 		JBrowse link
G Plcb3 phospholipase C beta 3 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 1:204,143,257...204,160,384
Ensembl chr 1:204,144,956...204,160,228 		JBrowse link
G Polr2g RNA polymerase II subunit G ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 1:205,689,160...205,692,537
Ensembl chr 1:205,689,160...205,692,686 		JBrowse link
G Ppp1r14b protein phosphatase 1, regulatory (inhibitor) subunit 14B ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 1:204,165,210...204,167,320
Ensembl chr 1:204,163,299...204,167,319 		JBrowse link
G Ppp2r5b protein phosphatase 2, regulatory subunit B', beta ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 1:203,527,268...203,535,442
Ensembl chr 1:203,527,270...203,535,416 		JBrowse link
G Prdx5 peroxiredoxin 5 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 1:204,099,826...204,103,589
Ensembl chr 1:204,099,826...204,114,268 		JBrowse link
G Prpf19 pre-mRNA processing factor 19 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 1:207,541,582...207,552,664
Ensembl chr 1:207,541,595...207,552,662 		JBrowse link
G Ptgdr2 prostaglandin D2 receptor 2 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 1:207,585,088...207,590,275
Ensembl chr 1:207,587,917...207,589,213 		JBrowse link
G Pygm glycogen phosphorylase, muscle associated ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 1:203,690,550...203,705,369
Ensembl chr 1:203,690,533...203,705,368 		JBrowse link
G Rab3il1 RAB3A interacting protein-like 1 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 1:206,646,168...206,682,718
Ensembl chr 1:206,646,155...206,679,972 		JBrowse link
G Rasgrp2 RAS guanyl releasing protein 2 ISS
ISO		 OMIM:612840
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3		 MouseDO
ClinVar		 PMID:28492532 NCBI chr 1:203,705,777...203,722,993
Ensembl chr 1:203,707,481...203,722,993 		JBrowse link
G Rcor2 REST corepressor 2 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 1:204,453,403...204,461,403
Ensembl chr 1:204,454,360...204,460,838 		JBrowse link
G Rom1 retinal outer segment membrane protein 1 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 1:205,824,050...205,826,058
Ensembl chr 1:205,824,052...205,826,175 		JBrowse link
G Rps6ka4 ribosomal protein S6 kinase A4 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 1:204,021,805...204,032,781
Ensembl chr 1:204,021,806...204,032,761 		JBrowse link
G Rtn3 reticulon 3 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 1:204,612,675...204,669,212
Ensembl chr 1:204,612,675...204,669,275 		JBrowse link
G Sac3d1 SAC3 domain containing 1 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 1:203,414,184...203,416,563
Ensembl chr 1:203,414,187...203,416,604 		JBrowse link
G Saxo4 stabilizer of axonemal microtubules 4 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 1:207,113,807...207,122,378
Ensembl chr 1:207,113,809...207,122,358 		JBrowse link
G Scgb1a1 secretoglobin family 1A member 1 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 1:205,977,060...205,980,610
Ensembl chr 1:205,977,060...205,980,610 		JBrowse link
G Scgb1d2 secretoglobin, family 1D, member 2 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 1:206,228,546...206,233,587
Ensembl chr 1:206,228,778...206,231,785 		JBrowse link
G Scgb1d4 secretoglobin family 1D member 4 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 1:206,330,454...206,333,329
Ensembl chr 1:206,330,454...206,333,329 		JBrowse link
G Scgb2a1 secretoglobin, family 2A, member 1 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 1:206,497,848...206,501,211
Ensembl chr 1:206,497,849...206,501,211
Ensembl chr 1:206,497,849...206,501,211 		JBrowse link
G Sdhaf2 succinate dehydrogenase complex assembly factor 2 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 1:207,139,070...207,167,830
Ensembl chr 1:207,139,112...207,168,616 		JBrowse link
G Sf1 splicing factor 1 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 1:203,670,016...203,683,432
Ensembl chr 1:203,670,018...203,684,330 		JBrowse link
G Slc15a3 solute carrier family 15 member 3 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 1:207,492,365...207,507,158
Ensembl chr 1:207,492,365...207,507,157 		JBrowse link
G Slc22a12 solute carrier family 22 member 12 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 1:203,845,039...203,852,496
Ensembl chr 1:203,845,048...203,853,555 		JBrowse link
G Slc22a22 solute carrier family 22 member 22 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 7:88,720,425...88,750,111
Ensembl chr 7:88,720,427...88,750,111 		JBrowse link
G Slc22a24 solute carrier family 22, member 24 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 1:204,910,450...204,965,538
Ensembl chr 1:204,910,455...204,965,538 		JBrowse link
G Slc22a25 solute carrier family 22, member 25 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 1:205,338,698...205,498,486
Ensembl chr 1:205,338,699...205,433,085 		JBrowse link
G Slc22a6 solute carrier family 22 member 6 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 1:205,522,579...205,531,179
Ensembl chr 1:205,522,729...205,531,173 		JBrowse link
G Slc22a8 solute carrier family 22 member 8 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 1:205,496,331...205,516,378
Ensembl chr 1:205,498,084...205,517,450 		JBrowse link
G Slc3a2 solute carrier family 3 member 2 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 1:205,604,468...205,618,931
Ensembl chr 1:205,604,468...205,618,931 		JBrowse link
G Snord22 small nucleolar RNA, C/D box 22 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr11:9,097,799...9,097,923
Ensembl chr11:9,097,799...9,097,923 		JBrowse link
G Snord26 small nucleolar RNA, C/D box 26 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 1:205,619,818...205,619,892
Ensembl chr 1:205,619,818...205,619,892 		JBrowse link
G Snord27 small nucleolar RNA, C/D box 27 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 1:205,620,094...205,620,167
Ensembl chr 1:205,620,094...205,620,167 		JBrowse link
G Snord30 small nucleolar RNA, C/D box 30 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 1:205,621,234...205,621,302
Ensembl chr 1:205,621,234...205,621,302 		JBrowse link
G Snx15 sorting nexin 15 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 1:203,417,029...203,426,173
Ensembl chr 1:203,417,029...203,426,247 		JBrowse link
G Spindoc spindlin interactor and repressor of chromatin binding ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 1:204,541,647...204,565,109
Ensembl chr 1:204,542,335...204,564,144 		JBrowse link
G Stip1 stress-induced phosphoprotein 1 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 1:204,209,433...204,228,452
Ensembl chr 1:204,178,932...204,228,476 		JBrowse link
G Stx3 syntaxin 3 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 1:208,617,018...208,686,240
Ensembl chr 1:208,639,115...208,685,805 		JBrowse link
G Stx5 syntaxin 5 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 1:205,637,401...205,653,563
Ensembl chr 1:205,637,413...205,653,563 		JBrowse link
G Syt7 synaptotagmin 7 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 1:207,031,359...207,093,787
Ensembl chr 1:207,031,592...207,089,026 		JBrowse link
G Syvn1 synoviolin 1 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 1:203,339,235...203,346,137
Ensembl chr 1:203,339,619...203,346,152 		JBrowse link
G Taf6l TATA-box binding protein associated factor 6 like ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 1:205,672,147...205,684,721
Ensembl chr 1:205,672,149...205,684,655 		JBrowse link
G Tkfc triokinase and FMN cyclase ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 1:207,238,230...207,253,035
Ensembl chr 1:207,236,557...207,252,737 		JBrowse link
G Tm7sf2 transmembrane 7 superfamily member 2 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 1:203,355,930...203,360,287
Ensembl chr 1:203,355,931...203,360,270 		JBrowse link
G Tmem109 transmembrane protein 109 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 1:207,519,628...207,530,245
Ensembl chr 1:207,519,624...207,530,215 		JBrowse link
G Tmem132a transmembrane protein 132A ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 1:207,507,074...207,518,756
Ensembl chr 1:207,507,077...207,518,758 		JBrowse link
G Tmem138 transmembrane protein 138 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 1:207,219,113...207,226,159 JBrowse link
G Tmem179b transmembrane protein 179B ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 1:205,670,126...205,672,112
Ensembl chr 1:205,666,744...205,672,112 		JBrowse link
G Tmem216 transmembrane protein 216 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 1:207,196,454...207,201,704
Ensembl chr 1:207,196,454...207,201,754 		JBrowse link
G Tmem223 transmembrane protein 223 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 1:205,668,716...205,670,077
Ensembl chr 1:205,662,063...205,670,056 		JBrowse link
G Tmem258 transmembrane protein 258 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 1:206,849,723...206,853,623 JBrowse link
G Trmt112 tRNA methyltransferase activator subunit 11-2 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 1:204,103,298...204,104,151 JBrowse link
G Trpt1 tRNA phosphotransferase 1 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 1:204,186,295...204,191,294
Ensembl chr 1:204,186,295...204,191,294 		JBrowse link
G Ttc9c tetratricopeptide repeat domain 9C ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 1:205,701,768...205,712,782
Ensembl chr 1:205,701,768...205,712,773 		JBrowse link
G Tut1 terminal uridylyl transferase 1, U6 snRNA-specific ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 1:205,848,691...205,859,767
Ensembl chr 1:205,848,772...205,859,764 		JBrowse link
G Ubxn1 UBX domain protein 1 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 1:205,765,309...205,769,234
Ensembl chr 1:205,745,120...205,816,520 		JBrowse link
G Uqcc3 ubiquinol-cytochrome c reductase complex assembly factor 3 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 1:205,773,591...205,774,369
Ensembl chr 1:205,772,780...205,774,376 		JBrowse link
G Ust5r integral membrane transport protein UST5r ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 1:205,210,558...205,286,868
Ensembl chr 1:205,211,034...205,286,718 		JBrowse link
G Vegfb vascular endothelial growth factor B ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 1:204,172,297...204,178,046
Ensembl chr 1:204,172,225...204,177,944 		JBrowse link
G Vps37c VPS37C subunit of ESCRT-I ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 1:207,336,694...207,362,295
Ensembl chr 1:207,336,731...207,362,289 		JBrowse link
G Vps51 VPS51 subunit of GARP complex ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 1:203,360,434...203,370,422
Ensembl chr 1:203,360,440...203,370,430 		JBrowse link
G Vwce von Willebrand factor C and EGF domains ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 1:207,280,714...207,327,215
Ensembl chr 1:207,282,356...207,312,986 		JBrowse link
G Wdr74 WD repeat domain 74 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 1:205,631,769...205,636,558
Ensembl chr 1:205,631,824...205,636,563 		JBrowse link
G Zbtb3 zinc finger and BTB domain containing 3 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 1:205,693,906...205,703,277
Ensembl chr 1:205,686,620...205,704,515 		JBrowse link
G Zfpl1 zinc finger protein-like 1 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 1:203,374,500...203,378,518
Ensembl chr 1:203,374,504...203,378,487 		JBrowse link
G Zfta zinc finger translocation associated ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 1:204,604,557...204,612,688
Ensembl chr 1:204,604,103...204,612,688 		JBrowse link
G Znhit2 zinc finger, HIT-type containing 2 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 1:203,354,297...203,355,578
Ensembl chr 1:203,354,138...203,355,636 		JBrowse link
G Zp1 zona pellucida glycoprotein 1 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 1:207,560,881...207,567,261
Ensembl chr 1:207,560,881...207,567,261 		JBrowse link
Leukocytosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Apc APC regulator of WNT signaling pathway ISO CTD Direct Evidence: marker/mechanism CTD PMID:27725143 NCBI chr18:25,828,558...25,925,511
Ensembl chr18:25,864,222...25,922,696 		JBrowse link
G Csf3 colony stimulating factor 3 ISO associated with neoplasms; RGD PMID:18756972 RGD:11039421 NCBI chr10:83,660,787...83,664,569
Ensembl chr10:83,661,207...83,663,603 		JBrowse link
G Csf3r colony stimulating factor 3 receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:19620628 NCBI chr 5:138,298,605...138,318,224
Ensembl chr 5:138,301,506...138,317,881 		JBrowse link
G Flt3 Fms related receptor tyrosine kinase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27099147 PMID:27725143 NCBI chr12:7,623,930...7,699,474
Ensembl chr12:7,623,930...7,699,474 		JBrowse link
G Il1b interleukin 1 beta ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:1884014 PMID:19633061 PMID:1581467 RGD:4142837, RGD:10450884 NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415 		JBrowse link
G Il1rn interleukin 1 receptor antagonist ISO associated with Meningitis, Listeria; RGD PMID:10085034 RGD:11522759 NCBI chr 3:7,111,567...7,127,451
Ensembl chr 3:7,111,550...7,127,445 		JBrowse link
G Itga4 integrin subunit alpha 4 IMP RGD PMID:12626659 RGD:9698418 NCBI chr 3:64,162,764...64,235,010
Ensembl chr 3:64,163,085...64,233,715 		JBrowse link
G Kng2 kininogen 2 IDA RGD PMID:5116037 RGD:11059893 NCBI chr11:77,913,876...77,936,247
Ensembl chr11:77,909,612...78,002,971 		JBrowse link
G Kras KRAS proto-oncogene, GTPase ISO CTD Direct Evidence: marker/mechanism CTD PMID:27725143 NCBI chr 4:178,185,418...178,218,484 JBrowse link
G Npy5r neuropeptide Y receptor Y5 IDA RGD PMID:12417430 RGD:729324 NCBI chr16:23,055,427...23,063,384
Ensembl chr16:23,055,427...23,063,382 		JBrowse link
G Nras NRAS proto-oncogene, GTPase ISO CTD Direct Evidence: marker/mechanism CTD PMID:27725143 NCBI chr 2:190,582,885...190,593,509
Ensembl chr 2:190,582,918...190,591,626 		JBrowse link
leukopenia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aspg asparaginase ISO CTD Direct Evidence: marker/mechanism CTD PMID:2187653 NCBI chr 6:131,176,727...131,196,268
Ensembl chr 6:131,176,874...131,196,268 		JBrowse link
G Csf3 colony stimulating factor 3 ISO CTD Direct Evidence: marker/mechanism|therapeutic CTD PMID:7543699 PMID:16076697 PMID:16120623 PMID:16937080 NCBI chr10:83,660,787...83,664,569
Ensembl chr10:83,661,207...83,663,603 		JBrowse link
G Cxcr4 C-X-C motif chemokine receptor 4 treatment ISO associated with WHIM Syndrome; DNA:nonsense mutation: cds:p.R334X(human) RGD PMID:21890643 RGD:6480654 NCBI chr13:40,077,976...40,081,883
Ensembl chr13:40,077,976...40,081,883 		JBrowse link
G Gstm1 glutathione S-transferase mu 1 susceptibility ISO RGD PMID:19555437 RGD:10450844 NCBI chr 2:195,649,845...195,655,402
Ensembl chr 2:195,649,845...195,655,411 		JBrowse link
G Gstt1 glutathione S-transferase theta 1 susceptibility ISO RGD PMID:19555437 RGD:10450844 NCBI chr20:12,856,613...12,873,586
Ensembl chr20:12,856,669...12,873,585 		JBrowse link
G Il2 interleukin 2 ISO CTD Direct Evidence: therapeutic CTD PMID:7678812 NCBI chr 2:120,004,862...120,009,566
Ensembl chr 2:120,004,862...120,009,566 		JBrowse link
G Il3 interleukin 3 ISO CTD Direct Evidence: therapeutic CTD PMID:8202718 NCBI chr10:38,405,716...38,408,066
Ensembl chr10:38,405,716...38,408,066 		JBrowse link
G Mthfr methylenetetrahydrofolate reductase ISO CTD Direct Evidence: marker/mechanism CTD PMID:19648163 NCBI chr 5:158,465,248...158,484,999
Ensembl chr 5:158,465,296...158,483,797 		JBrowse link
G Nat2 N-acetyltransferase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12795783 NCBI chr16:22,207,362...22,238,513
Ensembl chr16:22,208,194...22,238,520 		JBrowse link
G Nudt15 nudix hydrolase 15 ISS MouseDO NCBI chr15:48,707,776...48,713,847
Ensembl chr15:48,709,700...48,747,363 		JBrowse link
G Plat plasminogen activator, tissue type ISO associated with Sepsis;protein:decreased expression:plasma (human) RGD PMID:7646991 RGD:11552575 NCBI chr16:69,240,582...69,265,177
Ensembl chr16:69,240,585...69,268,223 		JBrowse link
G Thoc5 THO complex subunit 5 ISO RGD PMID:20051105 RGD:2317224 NCBI chr14:79,758,805...79,792,718
Ensembl chr14:79,758,917...79,792,718 		JBrowse link
G Tpmt thiopurine S-methyltransferase no_association ISO CTD Direct Evidence: marker/mechanism
DNA:polymorphisms: :multiple
DNA:SNP:exon:719A>G (human)		 CTD
RGD		 PMID:18662289 PMID:22535280 PMID:25108385 PMID:16044099 PMID:20308917 More... RGD:11038721, RGD:11038727, RGD:11038727, RGD:11038725 NCBI chr17:17,644,088...17,662,709
Ensembl chr17:17,644,173...17,662,709 		JBrowse link
leukostasis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ace angiotensin I converting enzyme IMP associated with Diabetes Mellitus, Experimental RGD PMID:16822509 RGD:11039403 NCBI chr10:90,910,316...90,930,437
Ensembl chr10:90,910,316...90,931,131 		JBrowse link
G Hmgb1 high mobility group box 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28294475 NCBI chr12:5,972,950...5,979,658
Ensembl chr12:5,901,586...5,978,565
Ensembl chr16:5,901,586...5,978,565 		JBrowse link
G Icam1 intercellular adhesion molecule 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10485912 NCBI chr 8:19,553,063...19,565,438
Ensembl chr 8:19,553,645...19,565,438 		JBrowse link
G Pparg peroxisome proliferator-activated receptor gamma ISO CTD Direct Evidence: therapeutic CTD PMID:12468449 NCBI chr 4:148,423,102...148,548,471
Ensembl chr 4:148,423,194...148,548,468 		JBrowse link
G Serpinf1 serpin family F member 1 treatment ISO associated with Diabetic Retinopathy; human protein in a rat model RGD PMID:16797605 RGD:8554884 NCBI chr10:60,250,198...60,262,593
Ensembl chr10:60,249,708...60,262,646 		JBrowse link
Lymphoma, AIDS-Related term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aicda activation-induced cytidine deaminase disease_progression ISO RGD PMID:18090274 RGD:32716407 NCBI chr 4:155,774,132...155,783,972
Ensembl chr 4:155,774,132...155,783,972 		JBrowse link
G Csf2 colony stimulating factor 2 ISO CTD Direct Evidence: therapeutic CTD PMID:7680712 PMID:9817281 NCBI chr10:38,386,945...38,388,926
Ensembl chr10:38,386,945...38,389,199 		JBrowse link
G Csf3 colony stimulating factor 3 ISO CTD Direct Evidence: therapeutic CTD PMID:12176798 NCBI chr10:83,660,787...83,664,569
Ensembl chr10:83,661,207...83,663,603 		JBrowse link
G Sdc1 syndecan 1 ISO protein:altered expression:tumor (human) RGD PMID:11157493 RGD:9743929 NCBI chr 6:31,562,799...31,585,267
Ensembl chr 6:31,562,739...31,585,264 		JBrowse link
G Tfrc transferrin receptor treatment ISO RGD PMID:26325374 RGD:11062098 NCBI chr11:68,163,413...68,185,257
Ensembl chr11:68,163,413...68,185,257 		JBrowse link
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 3:152,398,745...152,422,854
Ensembl chr 3:152,398,747...152,447,088 		JBrowse link
G Atg5 autophagy related 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26568842 NCBI chr20:47,798,217...47,889,216
Ensembl chr20:47,798,290...47,889,209 		JBrowse link
G Atg7 autophagy related 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26568842 NCBI chr 4:147,718,663...147,925,656
Ensembl chr 4:147,718,752...147,925,593 		JBrowse link
G Cbl Cbl proto-oncogene onset ISO RGD PMID:20404156 RGD:11038797 NCBI chr 8:44,487,824...44,571,620
Ensembl chr 8:44,489,410...44,571,176 		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 2:51,601,354...51,625,999
Ensembl chr 2:51,601,331...51,625,997 		JBrowse link
G Cd28 Cd28 molecule IMP RGD PMID:12750179 RGD:2307205 NCBI chr 9:62,166,324...62,194,674
Ensembl chr 9:62,166,192...62,194,685 		JBrowse link
G Csf1r colony stimulating factor 1 receptor IMP RGD PMID:30249809 RGD:41404725 NCBI chr18:54,546,673...54,590,418
Ensembl chr18:54,546,659...54,590,415 		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
G Ednrb endothelin receptor type B IAGP RGD PMID:22975636 RGD:7207471 NCBI chr15:80,640,839...80,672,115
Ensembl chr15:80,643,043...80,672,115 		JBrowse link
G Ednrbsl endothelin receptor type B, spotting lethal IAGP RGD PMID:22975636 RGD:7207471
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 chr13:83,280,782...83,297,535
Ensembl chr13:83,280,784...83,295,967 		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 chr13:83,249,905...83,259,921
Ensembl chr13:83,249,872...83,259,921 		JBrowse link
G Gimap5 GTPase, IMAP family member 5 IAGP DNA:frameshift deletion RGD PMID:12097339 RGD:619544 NCBI chr 4:77,693,417...77,701,025
Ensembl chr 4:77,687,564...77,703,086 		JBrowse link
G Hoxd13 homeo box D13 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27725143 NCBI chr 3:59,570,647...59,573,963
Ensembl chr 3:59,570,646...59,573,963 		JBrowse link
G Il1b interleukin 1 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:1884014 NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415 		JBrowse link
G Il2ra interleukin 2 receptor subunit alpha ISO IL2RA/CD25 Deficiency, OMIM:606367 RGD PMID:9096364 RGD:1600117 NCBI chr17:66,849,974...66,898,665
Ensembl chr17:66,849,974...66,898,697 		JBrowse link
G Il7 interleukin 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17151827 NCBI chr 2:94,235,219...94,280,075
Ensembl chr 2:94,234,766...94,280,075 		JBrowse link
G Jak3 Janus kinase 3 ISO ClinVar Annotator: match by term: Lymphopenia ClinVar PMID:25741868 PMID:28492532 NCBI chr16:18,386,330...18,398,542
Ensembl chr16:18,386,405...18,398,536 		JBrowse link
G Lbr lamin B receptor ISO DNA:point mutation RGD PMID:22105998 RGD:11062006 NCBI chr13:93,539,386...93,564,026
Ensembl chr13:93,538,920...93,564,017 		JBrowse link
G Myh7 myosin heavy chain 7 ISO ClinVar Annotator: match by term: Lymphopenia ClinVar PMID:7581410 PMID:10521296 PMID:11186938 PMID:11447480 PMID:15358028 More... NCBI chr15:28,446,550...28,469,888
Ensembl chr15:28,446,550...28,468,217 		JBrowse link
G Mysm1 myb-like, SWIRM and MPN domains 1 ISO RGD PMID:22184403 RGD:9589161 NCBI chr 5:109,761,345...109,826,652
Ensembl chr 5:109,776,286...109,819,967 		JBrowse link
G Nek1 NIMA-related kinase 1 ISO ClinVar Annotator: match by term: Lymphopenia ClinVar PMID:25741868 PMID:28089114 PMID:28492532 NCBI chr16:28,998,229...29,125,426
Ensembl chr16:28,998,231...29,117,723 		JBrowse link
G Nup98 nucleoporin 98 and 96 precursor ISO CTD Direct Evidence: marker/mechanism CTD PMID:27725143 NCBI chr 1:156,494,423...156,591,415
Ensembl chr 1:156,494,423...156,591,415 		JBrowse link
G Slc34a1 solute carrier family 34 member 1 ISO ClinVar Annotator: match by term: Lymphopenia ClinVar PMID:25741868 PMID:28492532 NCBI chr17:9,218,876...9,233,852
Ensembl chr17:9,218,876...9,233,852 		JBrowse link
G Tnf tumor necrosis factor ISO associated with HIV Infections;protein:increased expression:serum RGD PMID:2324681 RGD:10450888 NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629 		JBrowse link
G Vav1 vav guanine nucleotide exchange factor 1 IEP mRNA, protein:increased expression:thymus RGD PMID:10433093 RGD:2306005 NCBI chr 9:2,161,985...2,209,951
Ensembl chr 9:2,157,900...2,208,937 		JBrowse link
lymphoplasmacytic lymphoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cxcr4 C-X-C motif chemokine receptor 4 disease_progression ISO DNA:mutation:cds:1013C>G(p.S338X)(human) RGD PMID:24711662 RGD:11352304 NCBI chr13:40,077,976...40,081,883
Ensembl chr13:40,077,976...40,081,883 		JBrowse link
G Fcgr3a Fc gamma receptor 3A disease_progression
treatment		 ISO DNA:polymorphism: :
DNA:SNP:exon:p.F158V (rs396991) (human)		 RGD PMID:21564078 PMID:15659493 RGD:11040774, RGD:11352262 NCBI chr13:83,249,905...83,259,921
Ensembl chr13:83,249,872...83,259,921 		JBrowse link
G Gpx3 glutathione peroxidase 3 ISO protein:increased expression:bone marrow RGD PMID:32763516 RGD:401827827 NCBI chr10:39,028,624...39,036,695
Ensembl chr10:39,028,570...39,037,035 		JBrowse link
G Il10 interleukin 10 ISO DNA:SNPs: :multiple RGD PMID:19573080 RGD:11049165 NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313 		JBrowse link
G Il6 interleukin 6 no_association ISO DNA:SNPs: :rs6952003, rs7801617, rs10156056 (human)
DNA:SNPs: :multiple		 RGD PMID:19573080 PMID:19573080 RGD:11049165, RGD:11049165 NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178 		JBrowse link
G Irf4 interferon regulatory factor 4 ISO RGD PMID:23355206 RGD:11530052 NCBI chr17:33,721,800...33,742,570
Ensembl chr17:33,721,811...33,740,070 		JBrowse link
G Myd88 MYD88, innate immune signal transduction adaptor ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Macroglobulinemia, Waldenstrom, somatic		 CTD
ClinVar
OMIM		 PMID:21179087 PMID:22931316 PMID:23215570 PMID:23355535 PMID:26619011 More... NCBI chr 8:119,074,439...119,078,508
Ensembl chr 8:119,074,437...119,079,415 		JBrowse link
mantle cell lymphoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ak1 adenylate kinase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23676220 NCBI chr 3:15,912,431...15,923,045
Ensembl chr 3:15,912,485...15,923,041 		JBrowse link
G Arhgap29 Rho GTPase activating protein 29 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17488656 NCBI chr 2:210,060,036...210,132,572
Ensembl chr 2:210,071,199...210,132,028 		JBrowse link
G Atm ATM serine/threonine kinase ISO ClinVar Annotator: match by term: Mantle cell lymphoma ClinVar PMID:10706620 PMID:23807571 PMID:25614872 PMID:28492532 NCBI chr 8:53,828,741...53,932,773
Ensembl chr 8:53,831,093...53,932,437 		JBrowse link
G Btk Bruton tyrosine kinase treatment ISO RGD PMID:23045577 RGD:11040699 NCBI chr  X:97,722,796...97,762,315
Ensembl chr  X:97,722,802...97,761,853 		JBrowse link
G C8h11orf65 similar to human chromosome 11 open reading frame 65 ISO ClinVar Annotator: match by term: Mantle cell lymphoma ClinVar PMID:10706620 PMID:28492532 NCBI chr 8:53,796,033...53,825,277
Ensembl chr 8:53,796,366...53,824,748 		JBrowse link
G Ccdc50 coiled-coil domain containing 50 ISO RGD PMID:19641524 RGD:9685139 NCBI chr11:73,332,798...73,395,333
Ensembl chr11:73,334,248...73,395,150 		JBrowse link
G Ccnd1 cyclin D1 ISO mRNA:increased expression:bone marrow, peripheral blood (human)
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:22383795 PMID:26174628 PMID:24060591 RGD:11352827 NCBI chr 1:200,089,002...200,098,524
Ensembl chr 1:200,089,002...200,098,602 		JBrowse link
G Cd79b CD79b molecule treatment ISO protein:decreased expression:blood, B cell (human)
human cells in mouse model		 RGD PMID:10329919 PMID:17374736 RGD:11531139, RGD:151665154 NCBI chr10:91,239,354...91,242,500
Ensembl chr10:91,239,356...91,242,625 		JBrowse link
G Ctnnb1 catenin beta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18787224 NCBI chr 8:120,640,008...120,667,110
Ensembl chr 8:120,639,995...120,667,111 		JBrowse link
G Eif4e eukaryotic translation initiation factor 4E ISO CTD Direct Evidence: marker/mechanism CTD PMID:17148679 NCBI chr 2:227,066,519...227,099,261
Ensembl chr 2:227,066,673...227,098,683 		JBrowse link
G Eif4ebp1 eukaryotic translation initiation factor 4E binding protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17148679 NCBI chr16:64,792,595...64,805,984
Ensembl chr16:64,790,226...64,805,984 		JBrowse link
G Gsk3b glycogen synthase kinase 3 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:18787224 NCBI chr11:62,498,997...62,648,665
Ensembl chr11:62,504,316...62,648,646 		JBrowse link
G Mtor mechanistic target of rapamycin kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:17148679 NCBI chr 5:158,884,856...158,994,311
Ensembl chr 5:158,884,804...158,994,311 		JBrowse link
G Pik3cd phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta ISO CTD Direct Evidence: marker/mechanism CTD PMID:23676220 NCBI chr 5:160,094,952...160,142,962
Ensembl chr 5:160,094,952...160,120,930 		JBrowse link
G Pramex1 PRAME like, X-linked 1 ISO protein:increased expression:mononuclear cell (human) RGD PMID:16620968 RGD:11535021 NCBI chr  X:98,567,994...98,574,654
Ensembl chr  X:98,569,415...98,572,096 		JBrowse link
G Tnfrsf10b TNF receptor superfamily member 10b susceptibility ISO DNA:missense mutation:cds:p.E228A (c.683A>C) (human)
DNA:SNP:exon:626C>G, 1322A>G (human)		 RGD PMID:16217763 PMID:15531454 RGD:11038717, RGD:11038718 NCBI chr15:44,840,386...44,868,318
Ensembl chr15:44,840,386...44,867,467 		JBrowse link
G Wnt10a Wnt family member 10A ISO CTD Direct Evidence: marker/mechanism CTD PMID:18787224 NCBI chr 9:76,349,931...76,362,400
Ensembl chr 9:76,349,931...76,362,400 		JBrowse link
G Wnt3 Wnt family member 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18787224 NCBI chr10:88,680,198...88,724,170
Ensembl chr10:88,680,248...88,724,099 		JBrowse link
marginal zone lymphoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bcl10 BCL10, immune signaling adaptor ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 2:234,840,880...234,850,520
Ensembl chr 2:234,840,858...234,850,523 		JBrowse link
G Gfi1 growth factor independent 1 transcriptional repressor disease_progression ISO RGD PMID:15231650 RGD:1581305 NCBI chr14:2,040,576...2,056,874
Ensembl chr14:2,042,434...2,051,814 		JBrowse link
G RT1-Ba RT1 class II, locus Ba ISO associated with Helicobacter Infections;DNA:polymorphism: :HLA-DQA1*0103 (human) RGD PMID:16234023 RGD:5147794 NCBI chr20:4,575,134...4,579,727
Ensembl chr20:4,575,134...4,579,744 		JBrowse link
G RT1-Bb RT1 class II, locus Bb ISO associated with Helicobacter Infections;DNA:polymorphism: :HLA-DQB1*0601 (human) RGD PMID:16234023 RGD:5147794 NCBI chr20:4,596,558...4,602,201
Ensembl chr20:4,596,559...4,607,597 		JBrowse link
G Tp53 tumor protein p53 ISO GAD PMID:15118671 RGD:1331525 NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524 		JBrowse link
mast-cell leukemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kit KIT proto-oncogene receptor tyrosine kinase ISO ClinVar Annotator: match by term: Mast cell leukemia ClinVar PMID:7479840 PMID:7691885 PMID:8589724 PMID:9827716 PMID:9990072 More... NCBI chr14:32,547,459...32,624,694
Ensembl chr14:32,548,877...32,624,652 		JBrowse link
mastocytosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Foxf1 forkhead box F1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18421012 NCBI chr19:49,153,949...49,157,741
Ensembl chr19:49,153,699...49,157,738 		JBrowse link
G Il13 interleukin 13 ISO DNA:SNP:promoter:-1112C>T (rs1800925) (human) RGD PMID:19178408 RGD:8549523 NCBI chr10:37,790,130...37,792,687
Ensembl chr10:37,790,130...37,792,737 		JBrowse link
G Il2rb interleukin 2 receptor subunit beta ISO RGD PMID:21301182 RGD:42724469 NCBI chr 7:110,033,341...110,048,054
Ensembl chr 7:110,033,341...110,048,054 		JBrowse link
G Il4r interleukin 4 receptor ISO RGD PMID:23149659 RGD:7829822 NCBI chr 1:180,115,061...180,139,981
Ensembl chr 1:180,115,120...180,139,980 		JBrowse link
G Il5ra interleukin 5 receptor subunit alpha ISO RGD PMID:21762978 RGD:11354970 NCBI chr 4:139,630,652...139,664,593
Ensembl chr 4:139,632,066...139,668,544 		JBrowse link
G Kit KIT proto-oncogene receptor tyrosine kinase ISO
ISS		 OMIM:154800
ClinVar Annotator: match by term: Mast cell disease | ClinVar Annotator: match by term: Mastocytosis
CTD Direct Evidence: marker/mechanism
associated with Hematologic Diseases;mRNA:increased expression:peripheral blood mononuclear cell:		 MouseDO
ClinVar
CTD
OMIM
RGD		 PMID:7529964 PMID:8589724 PMID:10554798 PMID:11380399 PMID:15790786 More... RGD:1600046, RGD:12910724 NCBI chr14:32,547,459...32,624,694
Ensembl chr14:32,548,877...32,624,652 		JBrowse link
Monoclonal B-Cell Lymphocytosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Amz2 archaelysin family metallopeptidase 2 ISO ClinVar Annotator: match by term: Monoclonal B-Cell Lymphocytosis ClinVar NCBI chr10:94,401,546...94,412,116
Ensembl chr10:94,401,579...94,412,114 		JBrowse link
G Apc APC regulator of WNT signaling pathway ISO ClinVar Annotator: match by term: Monoclonal B-Cell Lymphocytosis ClinVar PMID:25741868 PMID:28492532 NCBI chr18:25,828,558...25,925,511
Ensembl chr18:25,864,222...25,922,696 		JBrowse link
G Dazap1 DAZ associated protein 1 ISO ClinVar Annotator: match by term: Monoclonal B-Cell Lymphocytosis ClinVar NCBI chr 7:9,423,673...9,448,116
Ensembl chr 7:9,424,178...9,538,818 		JBrowse link
G Fcnb ficolin B ISO ClinVar Annotator: match by term: Monoclonal B-Cell Lymphocytosis ClinVar NCBI chr 3:11,393,713...11,402,198
Ensembl chr 3:11,393,739...11,402,151 		JBrowse link
G Klhl6 kelch-like family member 6 ISO ClinVar Annotator: match by term: Monoclonal B-Cell Lymphocytosis ClinVar NCBI chr11:80,970,917...81,010,593
Ensembl chr11:80,970,917...81,009,677 		JBrowse link
G Notch2 notch receptor 2 ISO ClinVar Annotator: match by term: Monoclonal B-Cell Lymphocytosis ClinVar PMID:8755249 PMID:21378985 PMID:21378989 PMID:22891273 PMID:22891276 More... NCBI chr 2:185,610,594...185,744,088
Ensembl chr 2:185,610,589...185,744,088 		JBrowse link
G Rapgef1 Rap guanine nucleotide exchange factor 1 ISO ClinVar Annotator: match by term: Monoclonal B-Cell Lymphocytosis ClinVar NCBI chr 3:12,898,349...13,016,234
Ensembl chr 3:12,898,266...13,013,984 		JBrowse link
G Sec14l1 SEC14-like lipid binding 1 ISO ClinVar Annotator: match by term: Monoclonal B-Cell Lymphocytosis ClinVar NCBI chr10:102,319,920...102,367,070
Ensembl chr10:102,319,920...102,367,068 		JBrowse link
G Slc35a5 solute carrier family 35, member A5 ISO ClinVar Annotator: match by term: Monoclonal B-Cell Lymphocytosis ClinVar NCBI chr11:55,653,376...55,674,476
Ensembl chr11:55,653,394...55,674,473 		JBrowse link
G Sp4 Sp4 transcription factor ISO ClinVar Annotator: match by term: Monoclonal B-Cell Lymphocytosis ClinVar NCBI chr 6:139,187,458...139,252,741
Ensembl chr 6:139,192,147...139,252,126 		JBrowse link
G Tmed9 transmembrane p24 trafficking protein 9 ISO ClinVar Annotator: match by term: Monoclonal B-Cell Lymphocytosis ClinVar NCBI chr17:9,029,646...9,034,160
Ensembl chr17:9,029,646...9,034,176 		JBrowse link
G Vmp1 vacuole membrane protein 1 ISO ClinVar Annotator: match by term: Monoclonal B-Cell Lymphocytosis ClinVar NCBI chr10:71,405,058...71,505,045
Ensembl chr10:71,405,452...71,505,007 		JBrowse link
monoclonal gammopathy of uncertain significance term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ctla4 cytotoxic T-lymphocyte-associated protein 4 susceptibility ISO DNA:microsatellite polymorphism:exon: : RGD PMID:11167807 RGD:11352247 NCBI chr 9:62,318,874...62,325,978
Ensembl chr 9:62,319,312...62,324,963 		JBrowse link
G Myd88 MYD88, innate immune signal transduction adaptor ISS MouseDO NCBI chr 8:119,074,439...119,078,508
Ensembl chr 8:119,074,437...119,079,415 		JBrowse link
G Nefh neurofilament heavy chain ISO associated with Peripheral Nervous System Diseases RGD PMID:12536221 RGD:9693726 NCBI chr14:79,830,362...79,840,347
Ensembl chr14:79,830,362...79,840,351 		JBrowse link
Monocyte Esterase Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ces1d carboxylesterase 1D ISO ClinVar Annotator: match by term: DRUG METABOLISM, ALTERED, CES1-RELATED OMIM
ClinVar		 PMID:18485328 PMID:23111421 PMID:26817948 PMID:27614009 NCBI chr19:13,873,490...13,912,035
Ensembl chr19:13,796,623...13,912,035 		JBrowse link
Monocytosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tet2 tet methylcytosine dioxygenase 2 ISO RGD PMID:24218139 RGD:11038772 NCBI chr 2:221,988,645...222,072,813
Ensembl chr 2:221,988,645...222,072,534 		JBrowse link
multiple myeloma 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 treatment ISO RGD PMID:26314844 PMID:16917002 RGD:11081075, RGD:11081144 NCBI chr 4:87,676,241...87,802,757
Ensembl chr 4:87,745,319...87,802,409 		JBrowse link
G Ace angiotensin I converting enzyme ISO protein:increased activity:serum RGD PMID:22345095 RGD:11038914 NCBI chr10:90,910,316...90,930,437
Ensembl chr10:90,910,316...90,931,131 		JBrowse link
G Alb albumin disease_progression ISO RGD PMID:17096887 RGD:11035276 NCBI chr14:17,607,397...17,622,814
Ensembl chr14:17,607,381...17,622,836 		JBrowse link
G Alkbh5 alkB homolog 5, RNA demethylase ISO CTD Direct Evidence: marker/mechanism CTD PMID:35038059 NCBI chr10:45,344,888...45,366,331
Ensembl chr10:45,343,395...45,366,331 		JBrowse link
G Apoe apolipoprotein E treatment ISO RGD PMID:22348216 RGD:11040544 NCBI chr 1:79,353,924...79,357,852
Ensembl chr 1:79,353,916...79,357,932 		JBrowse link
G Arid4a AT-rich interaction domain 4A ISO ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chr 6:89,522,459...89,593,868
Ensembl chr 6:89,522,442...89,593,510 		JBrowse link
G Atm ATM serine/threonine kinase ISO ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chr 8:53,828,741...53,932,773
Ensembl chr 8:53,831,093...53,932,437 		JBrowse link
G Aurka aurora kinase A ISO ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chr 3:161,128,309...161,144,524
Ensembl chr 3:161,128,313...161,144,390 		JBrowse link
G B2m beta-2 microglobulin ISO ClinVar Annotator: match by term: Myelomatosis
protein:increased expression:serum		 ClinVar
RGD		 PMID:26619011 PMID:32856850 RGD:329955356 NCBI chr 3:109,095,740...109,101,764
Ensembl chr 3:109,095,729...109,101,766 		JBrowse link
G Bap1 Brca1 associated protein 1 ISO ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chr16:6,446,709...6,455,535
Ensembl chr16:6,446,709...6,455,535 		JBrowse link
G Bard1 BRCA1 associated RING domain 1 ISO ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chr 9:72,616,070...72,694,553
Ensembl chr 9:72,623,155...72,694,265 		JBrowse link
G Bcl2 BCL2, apoptosis regulator ISO CTD Direct Evidence: marker/mechanism CTD PMID:12429644 NCBI chr13:22,689,783...22,853,920
Ensembl chr13:22,684,989...22,853,743
Ensembl chr13:22,684,989...22,853,743 		JBrowse link
G Bcl2l1 Bcl2-like 1 ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:12429644 PMID:14656874 RGD:11353847 NCBI chr 3:141,253,508...141,304,582
Ensembl chr 3:141,253,523...141,303,479 		JBrowse link
G Bcl2l10 Bcl2-like 10 ISO protein:increased expression:bone marrow : RGD PMID:27455953 RGD:14392808 NCBI chr 8:76,107,326...76,113,373
Ensembl chr 8:76,107,326...76,113,367 		JBrowse link
G Bcorl1 BCL6 co-repressor-like 1 ISO ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chr  X:127,516,504...127,584,529
Ensembl chr  X:127,537,538...127,584,087 		JBrowse link
G Bnip3 BCL2 interacting protein 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18172295 NCBI chr 1:193,708,164...193,725,348
Ensembl chr 1:193,708,167...193,725,359 		JBrowse link
G Braf B-Raf proto-oncogene, serine/threonine kinase ISO ClinVar Annotator: match by term: Multiple myeloma | ClinVar Annotator: match by term: Myelomatosis ClinVar PMID:2493360 PMID:12068308 PMID:12198537 PMID:12447372 PMID:12460918 More... NCBI chr 4:68,375,484...68,510,652
Ensembl chr 4:68,384,649...68,510,463 		JBrowse link
G Btg1 BTG anti-proliferation factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16918137 NCBI chr 7:31,341,391...31,343,649
Ensembl chr 7:31,341,027...31,343,649 		JBrowse link
G Cbl Cbl proto-oncogene ISO mRNA:decreased expression:mononuclear cell: RGD PMID:23948411 RGD:11038794 NCBI chr 8:44,487,824...44,571,620
Ensembl chr 8:44,489,410...44,571,176 		JBrowse link
G Cbx7 chromobox 7 susceptibility ISO DNA:snp:intron:c.113+3502C>T (human) (rs877529)
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:23955597 PMID:23955597 RGD:11352716 NCBI chr 7:111,460,656...111,479,231
Ensembl chr 7:111,460,656...111,477,973 		JBrowse link
G Ccl2 C-C motif chemokine ligand 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16918137 NCBI chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226 		JBrowse link
G Ccn1 cellular communication network factor 1 exacerbates ISO mRNA, protein:increased expression:bone marrow (human)
mRNA,protein:increased expression:bone marrow (human)		 RGD PMID:28035364 PMID:25061178 RGD:329845528, RGD:329845546 NCBI chr 2:234,562,410...234,565,370
Ensembl chr 2:234,562,408...234,565,484 		JBrowse link
G Ccnd1 cyclin D1 susceptibility ISO ClinVar Annotator: match by term: MULTIPLE MYELOMA, t(11;14) TYPE, SUSCEPTIBILITY TO
CTD Direct Evidence: marker/mechanism
DNA:snp:exon:c.870G>A (rs603965) (human)		 OMIM
ClinVar
CTD
RGD		 PMID:10667569 PMID:11459873 PMID:12097293 PMID:23502783 PMID:24870244 More... RGD:1581171, RGD:11353784 NCBI chr 1:200,089,002...200,098,524
Ensembl chr 1:200,089,002...200,098,602 		JBrowse link
G Ccnd2 cyclin D2 ISO RGD PMID:15755896 RGD:1581171 NCBI chr 4:159,966,883...159,989,261
Ensembl chr 4:159,962,363...159,989,495 		JBrowse link
G Ccnd3 cyclin D3 ISO RGD PMID:15755896 RGD:1581171 NCBI chr 9:13,394,161...13,400,341
Ensembl chr 9:13,394,169...13,489,371 		JBrowse link
G Cd40 CD40 molecule treatment ISO human cells in a mouse model RGD PMID:10866315 RGD:11522720 NCBI chr 3:153,790,372...153,805,279
Ensembl chr 3:153,790,449...153,805,534 		JBrowse link
G Cd40lg CD40 ligand treatment
disease_progression		 ISO protein:increased expression:serum (human) RGD PMID:15565183 PMID:27243341 PMID:22403003 RGD:11352240, RGD:11352268, RGD:11352251 NCBI chr  X:135,127,052...135,138,768
Ensembl chr  X:135,126,969...135,138,306 		JBrowse link
G Cd46 CD46 molecule ISO protein:increased expression:plasma cell (human) RGD PMID:16728275 RGD:11352814 NCBI chr13:106,575,586...106,606,325
Ensembl chr13:106,574,858...106,660,445 		JBrowse link
G Cd86 CD86 molecule severity ISO protein:increased expression:bone marrow, plasma cell (human)
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:16611307 PMID:22705596 RGD:11354971 NCBI chr11:64,142,193...64,200,816
Ensembl chr11:64,163,828...64,200,818 		JBrowse link
G Cdk4 cyclin-dependent kinase 4 ISO ClinVar Annotator: match by term: Multiple myeloma ClinVar PMID:5377176 PMID:7652577 PMID:8528263 PMID:8968104 PMID:9228064 More... NCBI chr 7:62,886,124...62,889,562
Ensembl chr 7:62,883,105...62,942,403 		JBrowse link
G Cdkn2a cyclin-dependent kinase inhibitor 2A disease_progression ISO DNA:hypermethylation::
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:16008847 PMID:12681979 RGD:11252185 NCBI chr 5:103,984,949...103,992,143
Ensembl chr 5:103,984,949...104,003,149 		JBrowse link
G Cdkn2c cyclin-dependent kinase inhibitor 2C ISO ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chr 5:124,411,123...124,416,278
Ensembl chr 5:124,411,124...124,416,278 		JBrowse link
G Cfhr1 complement factor H-related 1 treatment ISO RGD PMID:22348216 RGD:11040544 NCBI chr13:51,395,583...51,410,571
Ensembl chr13:51,369,211...51,410,592 		JBrowse link
G Chi3l1 chitinase 3 like 1 severity ISO protein:increased secretion:serum (human) RGD PMID:16930142 RGD:4892645 NCBI chr13:45,641,802...45,649,787
Ensembl chr13:45,641,802...45,649,787 		JBrowse link
G Crbn cereblon ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Multiple myeloma		 CTD
ClinVar		 PMID:26186254 NCBI chr 4:139,701,154...139,719,949
Ensembl chr 4:139,701,094...139,719,938 		JBrowse link
G Crebbp CREB binding protein ISO ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chr10:11,335,551...11,461,888
Ensembl chr10:11,335,953...11,461,888 		JBrowse link
G Csf2 colony stimulating factor 2 ISO CTD Direct Evidence: therapeutic CTD PMID:7540856 PMID:8104070 PMID:8555506 NCBI chr10:38,386,945...38,388,926
Ensembl chr10:38,386,945...38,389,199 		JBrowse link
G Csf3 colony stimulating factor 3 ISO CTD Direct Evidence: therapeutic CTD PMID:7534716 PMID:7540856 NCBI chr10:83,660,787...83,664,569
Ensembl chr10:83,661,207...83,663,603 		JBrowse link
G Ctla4 cytotoxic T-lymphocyte-associated protein 4 susceptibility ISO DNA:microsatellite polymorphism:exon: : RGD PMID:11167807 RGD:11352247 NCBI chr 9:62,318,874...62,325,978
Ensembl chr 9:62,319,312...62,324,963 		JBrowse link
G Cyld CYLD lysine 63 deubiquitinase ISO ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chr19:18,310,632...18,373,696
Ensembl chr19:18,314,019...18,373,658 		JBrowse link
G Cyp1a1 cytochrome P450, family 1, subfamily a, polypeptide 1 susceptibility ISO DNA:polymorphisms:3'UTR,cds:3801T>C,12455A>G(human) RGD PMID:18285692 RGD:11352726 NCBI chr 8:58,096,021...58,102,130
Ensembl chr 8:58,096,077...58,102,125 		JBrowse link
G Cyp2c6 cytochrome P450, family 2, subfamily C, polypeptide 6 treatment
no_association		 ISO DNA:polymorphisms: : RGD PMID:17666363 PMID:20684753 RGD:11352748, RGD:11352804 NCBI chr 1:237,938,521...237,976,238
Ensembl chr 1:237,693,094...238,057,596 		JBrowse link
G Cyp2d4 cytochrome P450, family 2, subfamily d, polypeptide 4 no_association ISO DNA:polymorphisms: : RGD PMID:20684753 RGD:11352804 NCBI chr 7:113,882,584...113,891,754
Ensembl chr 7:113,881,618...113,891,759 		JBrowse link
G Dis3 DIS3 homolog, exosome endoribonuclease and 3'-5' exoribonuclease ISO ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chr15:75,820,040...75,850,450
Ensembl chr15:75,823,436...75,850,642 		JBrowse link
G Dnmt3a DNA methyltransferase 3 alpha ISO ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chr 6:26,791,517...26,902,161
Ensembl chr 6:26,822,609...26,896,687 		JBrowse link
G Dsg2 desmoglein 2 disease_progression ISO RGD PMID:34245117 RGD:401851080 NCBI chr18:11,846,207...11,904,630
Ensembl chr18:11,846,183...11,904,156 		JBrowse link
G Eif1ax eukaryotic translation initiation factor 1A, X-linked ISO ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chr  X:35,498,698...35,513,402
Ensembl chr  X:35,498,517...35,513,335 		JBrowse link
G Eng endoglin severity ISO protein:increased expression:serum: RGD PMID:23576184 RGD:11041181 NCBI chr 3:15,934,566...15,972,618
Ensembl chr 3:15,934,518...15,973,230 		JBrowse link
G Ephx1 epoxide hydrolase 1 no_association
susceptibility		 ISO DNA:SNPs:exon:p.Y113H (rs1051740), p.H139R (rs2234922) (human)
DNA:SNP:exon:rs2234922 (human)
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:16949155 PMID:19736056 PMID:16949155 PMID:24521996 RGD:11252116, RGD:11252121, RGD:11252122 NCBI chr13:92,714,315...92,744,105
Ensembl chr13:92,714,315...92,790,235 		JBrowse link
G Ercc1 ERCC excision repair 1, endonuclease non-catalytic subunit treatment ISO DNA:SNP: :rs735482 (human) RGD PMID:21435719 RGD:10450871 NCBI chr 1:78,971,310...79,007,963
Ensembl chr 1:78,996,390...79,007,963 		JBrowse link
G Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit disease_progression
sexual_dimorphism 		ISO DNA:polymorphism: :p.K751Q (rs13181) (human)
DNA:SNP:exon 23:p.K751Q (rs1052559)(Human)		 RGD PMID:22183071 PMID:17131345 RGD:11252199, RGD:401827277 NCBI chr 1:79,033,342...79,047,102
Ensembl chr 1:79,033,326...79,047,102 		JBrowse link
G Erf Ets2 repressor factor ISO ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chr 1:80,829,935...80,838,388
Ensembl chr 1:80,829,935...80,838,388 		JBrowse link
G Faslg Fas ligand disease_progression ISO RGD PMID:16321857 RGD:11049149 NCBI chr13:74,151,519...74,172,760
Ensembl chr13:74,154,954...74,162,215 		JBrowse link
G Fat1 FAT atypical cadherin 1 ISO ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chr16:47,177,253...47,296,261
Ensembl chr16:47,177,248...47,296,107 		JBrowse link
G Fcgr2a Fc gamma receptor 2A disease_progression
susceptibility		 ISO DNA:polymorphism: :rs1801274(human) RGD PMID:25850245 PMID:17315188 RGD:11040778, RGD:11040938 NCBI chr13:83,280,782...83,297,535
Ensembl chr13:83,280,784...83,295,967 		JBrowse link
G Fgfr3 fibroblast growth factor receptor 3 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Myelomatosis		 CTD
ClinVar		 PMID:1908846 PMID:7773297 PMID:8599935 PMID:8640234 PMID:8754806 More... NCBI chr14:76,987,242...77,002,671
Ensembl chr14:76,987,993...77,003,341 		JBrowse link
G Fgg fibrinogen gamma chain treatment ISO RGD PMID:22348216 RGD:11040544 NCBI chr 2:168,354,880...168,362,325
Ensembl chr 2:168,355,013...168,362,322 		JBrowse link
G Flt3 Fms related receptor tyrosine kinase 3 ISO ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chr12:7,623,930...7,699,474
Ensembl chr12:7,623,930...7,699,474 		JBrowse link
G Flt3lg Fms related receptor tyrosine kinase 3 ligand disease_progression ISO protein:increased expression:serum: RGD PMID:26521986 RGD:11075232 NCBI chr 1:95,615,056...95,620,463
Ensembl chr 1:95,609,370...95,620,463 		JBrowse link
G Fto FTO, alpha-ketoglutarate dependent dioxygenase ISO mRNA:increased expression:bone marrow RGD PMID:34274946 RGD:329901767 NCBI chr19:15,284,898...15,692,142
Ensembl chr19:15,349,696...15,692,083 		JBrowse link
G Gpx1 glutathione peroxidase 1 ISO RGD PMID:8599825 RGD:11352777 NCBI chr 8:109,026,905...109,028,031
Ensembl chr 8:109,026,905...109,028,024 		JBrowse link
G Gpx3 glutathione peroxidase 3 disease_progression ISO DNA:hypermethylation: : RGD PMID:23699600 RGD:11073605 NCBI chr10:39,028,624...39,036,695
Ensembl chr10:39,028,570...39,037,035 		JBrowse link
G Gstm1 glutathione S-transferase mu 1 severity
no_association		 ISO
IAGP		 RGD PMID:17653713 PMID:15136237 RGD:10450826, RGD:10450846 NCBI chr 2:195,649,845...195,655,402
Ensembl chr 2:195,649,845...195,655,411 		JBrowse link
G Gstp1 glutathione S-transferase pi 1 disease_progression
no_association
treatment		 ISO DNA:polymorphism:cds:p.I105V(human)
DNA:polymorphism: :		 RGD PMID:23953887 PMID:18061666 PMID:17512053 RGD:10755413, RGD:10755419, RGD:11075094 NCBI chr 1:201,337,762...201,340,230
Ensembl chr 1:201,321,672...201,340,226 		JBrowse link
G Gstt1 glutathione S-transferase theta 1 susceptibility
no_association		 ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:16949155 PMID:15136237 PMID:12624497 RGD:10450846, RGD:10450847 NCBI chr20:12,856,613...12,873,586
Ensembl chr20:12,856,669...12,873,585 		JBrowse link
G H19 H19 imprinted maternally expressed transcript severity ISO RNA:decrased expression:blood serum (human) RGD PMID:29470951 RGD:156430335 NCBI chr 1:197,730,698...197,733,374
Ensembl chr 1:197,730,698...197,733,134 		JBrowse link
G H1f4 H1.4 linker histone, cluster member ISO ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chr17:41,486,574...41,487,355
Ensembl chr17:41,486,560...41,487,403 		JBrowse link
G H3c1 H3 clustered histone 1 ISO ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chr17:41,368,379...41,368,902
Ensembl chr17:41,368,386...41,368,856
Ensembl chr17:41,368,386...41,368,856
Ensembl chr17:41,368,386...41,368,856
Ensembl chr17:41,368,386...41,368,856 		JBrowse link
G Hdac4 histone deacetylase 4 ISO ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chr 9:92,503,467...92,750,164
Ensembl chr 9:92,507,611...92,750,164 		JBrowse link
G Hfe homeostatic iron regulator susceptibility ISO DNA:missense mutation, haplotype:cds:p.C282Y (human) RGD PMID:10383894 RGD:8694350 NCBI chr17:41,413,451...41,421,502
Ensembl chr17:41,413,451...41,421,502 		JBrowse link
G Hk1 hexokinase 1 ISO RGD PMID:19996089 RGD:11353882 NCBI chr20:30,230,488...30,332,099
Ensembl chr20:30,230,486...30,332,131 		JBrowse link
G Hras HRas proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Myelomatosis
ClinVar Annotator: match by term: Multiple myeloma | ClinVar Annotator: match by term: Myelomatosis		 ClinVar PMID:11150980 PMID:12835555 PMID:16155195 PMID:16170316 PMID:16329078 More... NCBI chr 1:196,290,127...196,299,823
Ensembl chr 1:196,296,263...196,300,615 		JBrowse link
G Hspb1 heat shock protein family B (small) member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12855565 NCBI chr12:20,794,014...20,795,675
Ensembl chr12:20,794,028...20,795,743 		JBrowse link
G Icam1 intercellular adhesion molecule 1 treatment ISO protein:increased expression:serum: RGD PMID:7834632 PMID:7686390 RGD:11354981, RGD:11520780 NCBI chr 8:19,553,063...19,565,438
Ensembl chr 8:19,553,645...19,565,438 		JBrowse link
G Idh1 isocitrate dehydrogenase (NADP(+)) 1 ISO ClinVar Annotator: match by term: Myelomatosis ClinVar PMID:18772396 PMID:19657110 PMID:19798509 PMID:19818334 PMID:20946881 More... NCBI chr 9:66,534,146...66,563,703
Ensembl chr 9:66,534,146...66,563,708 		JBrowse link
G Idh2 isocitrate dehydrogenase (NADP(+)) 2 ISO ClinVar Annotator: match by term: Myelomatosis ClinVar PMID:20171147 PMID:20847235 PMID:20946881 PMID:21647154 PMID:21889589 More... NCBI chr 1:134,038,644...134,057,969
Ensembl chr 1:134,029,772...134,058,025 		JBrowse link
G Igf2r insulin-like growth factor 2 receptor ISO protein:increased expression:serum,urine: RGD PMID:29940770 RGD:14985218 NCBI chr 1:47,979,109...48,067,501
Ensembl chr 1:47,979,109...48,067,501 		JBrowse link
G Il10 interleukin 10 disease_progression ISO DNA:SNP, polymorphisms:promoter:-1082G>A, (human)
protein:increased expression:serum		 RGD PMID:11307152 PMID:11022130 RGD:11041888, RGD:11049458 NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313 		JBrowse link
G Il1a interleukin 1 alpha ISO DNA:SNP:promoter:-511C>T (human)
DNA:SNP:promoter:-889C>T (human)		 RGD PMID:25469832 PMID:17926179 PMID:1777241 RGD:11049156, RGD:11051973, RGD:11059513 NCBI chr 3:116,526,601...116,537,055
Ensembl chr 3:116,526,604...116,536,822 		JBrowse link
G Il1b interleukin 1 beta ISO DNA:SNPs:promoter, exon:-511C>T, 3954T>C (human) RGD PMID:17926179 RGD:11051973 NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415 		JBrowse link
G Il1rn interleukin 1 receptor antagonist no_association ISO DNA:snp: :11100C>T (human)
DNA:repeats:intron:		 RGD PMID:17926179 PMID:10848780 RGD:11051973, RGD:11522764 NCBI chr 3:7,111,567...7,127,451
Ensembl chr 3:7,111,550...7,127,445 		JBrowse link
G Il4r interleukin 4 receptor susceptibility ISO DNA:SNP: :-228120T>C(rs2107356)(human) RGD PMID:17315188 RGD:11040938 NCBI chr 1:180,115,061...180,139,981
Ensembl chr 1:180,115,120...180,139,980 		JBrowse link
G Il6 interleukin 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:8520508 PMID:12855565 PMID:19330649 NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178 		JBrowse link
G Il7r interleukin 7 receptor ISO ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chr 2:58,452,393...58,477,757
Ensembl chr 2:58,454,217...58,477,757 		JBrowse link
G Irf4 interferon regulatory factor 4 treatment
disease_progression		 ISO DNA:translocation
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:18568025 PMID:10557056 PMID:21707574 PMID:17690696 RGD:11526161, RGD:11530055, RGD:11530019 NCBI chr17:33,721,800...33,742,570
Ensembl chr17:33,721,811...33,740,070 		JBrowse link
G Irf8 interferon regulatory factor 8 ISO DNA:hypermethylation RGD PMID:23114132 RGD:329902071 NCBI chr19:48,790,581...48,812,363
Ensembl chr19:48,790,588...48,811,829 		JBrowse link
G Kdm5c lysine demethylase 5C ISO ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chr  X:21,345,459...21,387,045
Ensembl chr  X:21,345,481...21,381,870 		JBrowse link
G Kmt2c lysine methyltransferase 2C ISO ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chr 4:9,620,638...9,834,787
Ensembl chr 4:9,609,627...9,833,539 		JBrowse link
G Kmt2d lysine methyltransferase 2D ISO ClinVar Annotator: match by term: Multiple myeloma ClinVar PMID:22126750 PMID:24633898 PMID:25326635 PMID:25741868 PMID:27530205 More... NCBI chr 7:129,980,744...130,022,088
Ensembl chr 7:129,962,887...130,020,325 		JBrowse link
G Kras KRAS proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Multiple myeloma | ClinVar Annotator: match by term: Myelomatosis ClinVar
RGD		 PMID:2278970 PMID:3122217 PMID:12460918 PMID:15696205 PMID:16361624 More... RGD:1581756 NCBI chr 4:178,185,418...178,218,484 JBrowse link
G Lats1 large tumor suppressor kinase 1 ISO ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chr 1:2,160,411...2,193,640
Ensembl chr 1:2,160,411...2,193,640 		JBrowse link
G Lig4 DNA ligase 4 ISO DNA:polymorphisms
ClinVar Annotator: match by term: Multiple myeloma | ClinVar Annotator: match by term: Multiple myeloma, resistance to | ClinVar Annotator: match by term: Myelomatosis
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM
RGD		 PMID:11779494 PMID:12471202 PMID:15333585 PMID:16088910 PMID:24033266 More... RGD:1600305 NCBI chr16:79,518,393...79,526,956
Ensembl chr16:79,518,312...79,527,040 		JBrowse link
G Lrrc56 leucine rich repeat containing 56 ISO ClinVar Annotator: match by term: Multiple myeloma | ClinVar Annotator: match by term: Myelomatosis ClinVar PMID:11150980 PMID:12835555 PMID:16155195 PMID:16170316 PMID:16329078 More... NCBI chr 1:196,299,843...196,315,170
Ensembl chr 1:196,299,846...196,315,172 		JBrowse link
G Maf MAF bZIP transcription factor ISS OMIM:254500 MouseDO NCBI chr19:43,353,867...43,713,162
Ensembl chr19:43,360,342...43,712,365 		JBrowse link
G Mcl1 MCL1 apoptosis regulator, BCL2 family member ISO CTD Direct Evidence: marker/mechanism CTD PMID:12429644 NCBI chr 2:183,219,137...183,235,676
Ensembl chr 2:183,219,220...183,222,303 		JBrowse link
G Mefv MEFV innate immunity regulator, pyrin susceptibility ISO DNA:polymorphisms:cds:p.E148Q,M694V(human) RGD PMID:25202401 RGD:11531123 NCBI chr10:11,786,948...11,796,977
Ensembl chr10:11,787,422...11,796,973 		JBrowse link
G Met MET proto-oncogene, receptor tyrosine kinase ISO RGD PMID:11830493 RGD:2317526 NCBI chr 4:45,790,456...45,898,139
Ensembl chr 4:45,790,791...45,897,876 		JBrowse link
G Mettl14 methyltransferase 14, N6-adenosine-methyltransferase non-catalytic subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:35038059 NCBI chr 2:211,530,598...211,546,845
Ensembl chr 2:211,530,602...211,546,821 		JBrowse link
G Mettl3 methyltransferase 3, N6-adenosine-methyltransferase complex catalytic subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:35038059 NCBI chr15:25,002,505...25,014,097
Ensembl chr15:25,003,172...25,014,041 		JBrowse link
G Mga MAX dimerization protein MGA ISO ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chr 3:106,851,216...106,942,908
Ensembl chr 3:106,851,140...106,941,043 		JBrowse link
G Mir155 microRNA 155 disease_progression ISO miRNA:decreased expression:serum RGD PMID:25497370 PMID:28446295 RGD:21079441, RGD:24922226 NCBI chr11:23,774,654...23,774,718
Ensembl chr11:23,774,654...23,774,718 		JBrowse link
G Mir17 microRNA 17 disease_progression ISO miRNA:increased expression:plasma cell RGD PMID:23718138 RGD:329337383 NCBI chr15:92,180,629...92,180,712
Ensembl chr15:92,180,629...92,180,712 		JBrowse link
G Mir19a microRNA 19a ISO CTD Direct Evidence: marker/mechanism CTD PMID:29687521 NCBI chr15:92,180,912...92,180,993
Ensembl chr15:92,180,912...92,180,993 		JBrowse link
G Mir27a microRNA 27a ISO CTD Direct Evidence: marker/mechanism CTD PMID:35038059 NCBI chr19:23,954,831...23,954,917
Ensembl chr19:23,954,831...23,954,917 		JBrowse link
G Mir320a microRNA 320a ameliorates ISO human gene in mouse model RGD PMID:27086852 RGD:155882577 NCBI chr15:45,516,392...45,516,473
Ensembl chr15:45,516,392...45,516,473 		JBrowse link
G Mir92a1 microRNA 92a-1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29687521 NCBI chr15:92,181,336...92,181,413
Ensembl chr15:92,181,336...92,181,413 		JBrowse link
G Mst1r macrophage stimulating 1 receptor ISO ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chr 8:108,596,100...108,611,441
Ensembl chr 8:108,597,299...108,612,455 		JBrowse link
G Mthfr methylenetetrahydrofolate reductase ISO DNA:missense mutations:cds:677C>T, 1298A>C (human) RGD PMID:24839819 RGD:10449397 NCBI chr 5:158,465,248...158,484,999
Ensembl chr 5:158,465,296...158,483,797 		JBrowse link
G Mtr 5-methyltetrahydrofolate-homocysteine methyltransferase susceptibility ISO DNA:polymorphism: :2756A>G(human) RGD PMID:17655928 RGD:11075095 NCBI chr17:58,219,998...58,308,560
Ensembl chr17:58,220,071...58,304,822 		JBrowse link
G Mtrr 5-methyltetrahydrofolate-homocysteine methyltransferase reductase susceptibility ISO DNA:polymorphism: :66G>A(human) RGD PMID:17655928 RGD:11075095 NCBI chr 1:34,866,991...34,899,425
Ensembl chr 1:34,867,089...34,899,425 		JBrowse link
G Muc1 mucin 1, cell surface associated ISO CTD Direct Evidence: marker/mechanism CTD PMID:9949172 NCBI chr 2:174,635,989...174,640,738
Ensembl chr 2:174,635,995...174,640,733 		JBrowse link
G Myd88 MYD88, innate immune signal transduction adaptor ISO ClinVar Annotator: match by term: Myelomatosis ClinVar PMID:21179087 PMID:22931316 PMID:23215570 PMID:23355535 PMID:26619011 More... NCBI chr 8:119,074,439...119,078,508
Ensembl chr 8:119,074,437...119,079,415 		JBrowse link
G Ncor2 nuclear receptor co-repressor 2 ISO ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chr12:31,466,418...31,628,319
Ensembl chr12:31,466,412...31,628,319 		JBrowse link
G Nf1 neurofibromin 1 ISO ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chr10:64,306,027...64,539,112
Ensembl chr10:64,306,301...64,536,658 		JBrowse link
G Nfkbia NFKB inhibitor alpha ISO RGD PMID:16540234 PMID:12377412 RGD:2298898, RGD:2298895 NCBI chr 6:72,858,713...72,861,941
Ensembl chr 6:72,858,712...72,861,941 		JBrowse link
G Nkx2-1 NK2 homeobox 1 ISO ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chr 6:73,996,601...74,001,483
Ensembl chr 6:73,996,601...73,999,791 		JBrowse link
G Nono non-POU domain containing, octamer-binding exacerbates ISO mRNA:increased expression: (human) RGD PMID:32410217 RGD:155900765 NCBI chr  X:66,554,131...66,571,992
Ensembl chr  X:66,554,098...66,571,952 		JBrowse link
G Notch2 notch receptor 2 ISO protein:increased expression:bone marrow (human) RGD PMID:14726396 RGD:1580763 NCBI chr 2:185,610,594...185,744,088
Ensembl chr 2:185,610,589...185,744,088 		JBrowse link
G Nox1 NADPH oxidase 1 ISO protein:increased expression:serum RGD PMID:32856850 RGD:329955356 NCBI chr  X:97,279,058...97,332,291
Ensembl chr  X:97,279,056...97,302,236 		JBrowse link
G Nqo1 NAD(P)H quinone dehydrogenase 1 no_association ISO DNA:missense mutation:cds:p.P187S (human)
DNA:missense mutation:cds:p.P187S (609C>T) (human)
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:16949155 PMID:18156703 PMID:18061666 RGD:10769348, RGD:10755419 NCBI chr19:35,295,633...35,310,528
Ensembl chr19:35,295,573...35,310,557 		JBrowse link
G Nras NRAS proto-oncogene, GTPase treatment ISO DNA:mutation: :
ClinVar Annotator: match by term: Myelomatosis		 ClinVar
RGD		 PMID:1654209 PMID:2278970 PMID:2407301 PMID:2674680 PMID:2989702 More... RGD:11535049 NCBI chr 2:190,582,885...190,593,509
Ensembl chr 2:190,582,918...190,591,626 		JBrowse link
G Nuak1 NUAK family kinase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26873845 NCBI chr 7:19,330,034...19,401,918
Ensembl chr 7:19,329,933...19,401,913 		JBrowse link
G Parp1 poly (ADP-ribose) polymerase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21917757 NCBI chr13:92,307,593...92,339,406
Ensembl chr13:92,307,586...92,339,404 		JBrowse link
G Pf4 platelet factor 4 ameliorates ISO RGD PMID:21693026 RGD:329901828 NCBI chr14:17,298,304...17,299,220
Ensembl chr14:17,298,308...17,299,365 		JBrowse link
G Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha ISO ClinVar Annotator: match by term: Myelomatosis ClinVar PMID:17376864 PMID:18074223 PMID:20581867 PMID:25741868 PMID:26619011 More... NCBI chr 2:115,175,275...115,249,034
Ensembl chr 2:115,174,984...115,249,032 		JBrowse link
G Pik3r2 phosphoinositide-3-kinase regulatory subunit 2 ISO ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chr16:18,665,517...18,674,067
Ensembl chr16:18,665,457...18,674,065 		JBrowse link
G Pml PML nuclear body scaffold severity ISO protein:increased expression:bone marrow (human) RGD PMID:22906876 RGD:41404686 NCBI chr 8:58,627,347...58,661,927
Ensembl chr 8:58,628,837...58,658,971 		JBrowse link
G Polr1g RNA polymerase I subunit G sexual_dimorphism ISO DNA:SNP:exon 1: p.G-21A (rs967591) (human) RGD PMID:17131345 RGD:401827277 NCBI chr 1:79,007,490...79,010,766
Ensembl chr 1:79,007,490...79,010,766 		JBrowse link
G Pon1 paraoxonase 1 severity
susceptibility
treatment		 ISO protein:decreased activity:serum (human)
DNA:missense mutation:cds:p.Q192R (human)		 RGD PMID:25520116 PMID:15136237 PMID:22348216 RGD:11552578, RGD:10450846, RGD:11040544 NCBI chr 4:33,294,737...33,325,759
Ensembl chr 4:33,294,722...33,321,360 		JBrowse link
G Pramex1 PRAME like, X-linked 1 severity ISO associated with bortezomib treatment;mRNA:increased expression:bone marrow (human)
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:16179254 PMID:24791872 RGD:11535030 NCBI chr  X:98,567,994...98,574,654
Ensembl chr  X:98,569,415...98,572,096 		JBrowse link
G Prmt5 protein arginine methyltransferase 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29158558 NCBI chr15:27,968,893...27,978,291
Ensembl chr15:27,968,910...27,978,296 		JBrowse link
G Psors1c2 psoriasis susceptibility 1 candidate 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23955597 NCBI chr20:3,202,178...3,203,599
Ensembl chr20:3,202,174...3,203,599 		JBrowse link
G Pthlh parathyroid hormone-like hormone ISO CTD Direct Evidence: marker/mechanism CTD PMID:11054717 NCBI chr 4:180,188,792...180,199,847
Ensembl chr 4:180,188,792...180,199,847 		JBrowse link
G Ptpn11 protein tyrosine phosphatase, non-receptor type 11 ISO ClinVar Annotator: match by term: Myelomatosis ClinVar PMID:11704759 PMID:12634870 PMID:12717436 PMID:14644997 PMID:14974085 More... NCBI chr12:35,365,436...35,424,925
Ensembl chr12:35,383,144...35,424,925 		JBrowse link
G Ranbp2 RAN binding protein 2 ISO mRNA:increased expression:bone marrow, plasma cell (human) RGD PMID:19171422 RGD:9835349 NCBI chr20:26,442,156...26,493,481
Ensembl chr20:26,442,217...26,493,481 		JBrowse link
G Rbbp8 RB binding protein 8, endonuclease exacerbates ISO mRNA:increased expression:bone marrow, plasma cell (human) RGD PMID:30622325 RGD:401940173 NCBI chr18:2,922,985...2,988,851
Ensembl chr18:2,921,286...2,988,846 		JBrowse link
G Rbp1 retinol binding protein 1 disease_progression ISO DNA:hypermethylation: : RGD PMID:23699600 RGD:11073605 NCBI chr 8:99,025,218...99,046,740
Ensembl chr 8:99,025,206...99,046,743 		JBrowse link
G Recql4 RecQ like helicase 4 ISO ClinVar Annotator: match by term: Multiple myeloma ClinVar PMID:28492532 NCBI chr 7:108,423,453...108,430,790
Ensembl chr 7:108,423,455...108,430,619 		JBrowse link
G Robo1 roundabout guidance receptor 1 ameliorates ISO RGD PMID:34268498 RGD:243048419 NCBI chr11:10,580,863...11,621,675
Ensembl chr11:10,580,908...11,620,203 		JBrowse link
G RT1-CE16 RT1 class I, locus CE16 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17283154 NCBI chr20:3,257,109...3,260,747
Ensembl chr20:3,257,123...3,279,563 		JBrowse link
G Runx1 RUNX family transcription factor 1 ISO mRNA:splice variant RGD PMID:12560229 RGD:6482834 NCBI chr11:31,839,880...32,074,427
Ensembl chr11:31,843,764...32,074,542 		JBrowse link
G Rxra retinoid X receptor alpha ISO ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chr 3:10,989,832...11,076,366
Ensembl chr 3:10,989,832...11,073,712 		JBrowse link
G Samhd1 SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 ISO ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chr 3:145,761,549...145,794,420
Ensembl chr 3:145,761,558...145,794,386 		JBrowse link
G Sgk1 serum/glucocorticoid regulated kinase 1 ISO ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chr 1:22,980,257...23,098,122
Ensembl chr 1:22,980,261...23,098,283 		JBrowse link
G Sh2b3 SH2B adaptor protein 3 ISO ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chr12:34,731,934...34,753,617
Ensembl chr12:34,731,911...34,753,616 		JBrowse link
G Sod2 superoxide dismutase 2 ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:15908783 PMID:15908783 RGD:1581238 NCBI chr 1:47,638,318...47,645,163
Ensembl chr 1:47,636,528...47,645,189 		JBrowse link
G Sparc secreted protein acidic and cysteine rich disease_progression ISO CTD Direct Evidence: marker/mechanism
DNA:hypermethylation: :		 CTD
RGD		 PMID:18172295 PMID:23699600 RGD:11073605 NCBI chr10:39,516,394...39,538,252
Ensembl chr10:39,516,406...39,538,396 		JBrowse link
G Spp1 secreted phosphoprotein 1 ISO RGD PMID:16208410 RGD:1581367 NCBI chr14:5,308,885...5,315,120
Ensembl chr14:5,308,885...5,315,162 		JBrowse link
G Tcf3 transcription factor 3 ISO ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chr 7:9,280,571...9,302,315
Ensembl chr 7:9,280,571...9,302,314 		JBrowse link
G Tert telomerase reverse transcriptase ISO RGD PMID:11237381 RGD:11038665 NCBI chr 1:29,637,213...29,659,561
Ensembl chr 1:29,637,506...29,659,561 		JBrowse link
G Tet2 tet methylcytosine dioxygenase 2 ISO ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chr 2:221,988,645...222,072,813
Ensembl chr 2:221,988,645...222,072,534 		JBrowse link
G Tet3 tet methylcytosine dioxygenase 3 ISO ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chr 4:115,867,412...115,964,433
Ensembl chr 4:115,871,265...115,964,193 		JBrowse link
G Tfrc transferrin receptor treatment ISO RGD PMID:21654517 RGD:11062101 NCBI chr11:68,163,413...68,185,257
Ensembl chr11:68,163,413...68,185,257 		JBrowse link
G Tgfb1 transforming growth factor, beta 1 disease_progression ISO DNA:hypermethylation: :
protein:decreased expression:serum:		 RGD PMID:23699600 PMID:22560388 RGD:11073605, RGD:11073614 NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847 		JBrowse link
G Tnf tumor necrosis factor treatment
no_association		 ISO DNA:SNP:promoter:-238G>A (human)
DNA:SNP:promoter:-308G>A (human)		 RGD PMID:12200397 PMID:12815949 RGD:10449450, RGD:10449453 NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629 		JBrowse link
G Tnfrsf10b TNF receptor superfamily member 10b treatment ISO RGD PMID:16531263 RGD:11038719 NCBI chr15:44,840,386...44,868,318
Ensembl chr15:44,840,386...44,867,467 		JBrowse link
G Tnfrsf13b TNF receptor superfamily member 13B ISO CTD Direct Evidence: marker/mechanism CTD PMID:23955597 NCBI chr10:45,801,860...45,824,932
Ensembl chr10:45,801,860...45,822,987 		JBrowse link
G Tnfrsf17 TNF receptor superfamily member 17 ISO RGD PMID:15692072 RGD:2317306 NCBI chr10:4,301,023...4,306,889
Ensembl chr10:4,301,038...4,306,788 		JBrowse link
G Tnfsf8 TNF superfamily member 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9058727 NCBI chr 5:77,250,942...77,277,364
Ensembl chr 5:77,251,373...77,277,421 		JBrowse link
G Tp53 tumor protein p53 disease_progression
treatment		 ISO DNA:polymorphism:cds:p.R72P(human)
ClinVar Annotator: match by term: Multiple myeloma | ClinVar Annotator: match by term: Myelomatosis
DNA:deletion: :
protein:increased expression:nucleus:		 ClinVar
RGD		 PMID:253702 PMID:960674 PMID:1359493 PMID:1565143 PMID:1565144 More... RGD:11073716, RGD:11075073, RGD:11073728 NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524 		JBrowse link
G Trnt1 tRNA nucleotidyl transferase 1 ISO ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chr 4:139,681,115...139,703,611
Ensembl chr 4:139,680,858...139,703,611 		JBrowse link
G Tyms thymidylate synthetase treatment
no_association		 ISO DNA:polymorphism: :
DNA:repeats:5'UTR:		 RGD PMID:17512053 PMID:17655928 RGD:11075094, RGD:11075095 NCBI chr 9:113,313,454...113,329,551
Ensembl chr 9:113,313,452...113,329,536 		JBrowse link
G Ulk4 unc-51 like kinase 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22120009 NCBI chr 8:120,670,879...120,966,026
Ensembl chr 8:120,670,866...120,966,924 		JBrowse link
G Vegfa vascular endothelial growth factor A susceptibility ISO DNA:SNPs,haplotypes: :rs699947,rs1570360, rs2010963(human) RGD PMID:24687381 RGD:11079182 NCBI chr 9:14,955,300...14,970,641
Ensembl chr 9:14,955,300...14,970,641 		JBrowse link
G Xdh xanthine dehydrogenase ISO protein:increased expression:serum RGD PMID:32856850 RGD:329955356 NCBI chr 6:21,530,463...21,592,172
Ensembl chr 6:21,530,113...21,592,268 		JBrowse link
G Xpo5 exportin 5 severity ISO DNA:snp:3' utr:c.*659A>C (rs11077) (human) RGD PMID:22539802 RGD:11041735 NCBI chr 9:14,740,182...14,778,171
Ensembl chr 9:14,740,182...14,778,171 		JBrowse link
G Xrcc3 X-ray repair cross complementing 3 disease_progression ISO DNA:SNP,haplotype:: p.T241M (rs861535) (Human) RGD PMID:17131345 RGD:401827277 NCBI chr 6:130,863,405...130,873,765
Ensembl chr 6:130,863,959...130,872,444 		JBrowse link
G Xrcc4 X-ray repair cross complementing 4 susceptibility ISO DNA:SNPs:multiple (human) RGD PMID:17901044 RGD:8698655 NCBI chr 2:20,948,464...21,197,705
Ensembl chr 2:20,951,200...21,197,808 		JBrowse link
G Xrcc5 X-ray repair cross complementing 5 susceptibility ISO DNA:SNP:3'-UTR (human) RGD PMID:17901044 RGD:8698655 NCBI chr 9:73,955,216...74,044,020
Ensembl chr 9:73,955,216...74,044,018 		JBrowse link
G Yap1 Yes1 associated transcriptional regulator ISO ClinVar Annotator: match by term: Multiple myeloma ClinVar NCBI chr 8:5,095,705...5,166,808
Ensembl chr 8:5,095,722...5,167,010 		JBrowse link
G Ythdf1 YTH N6-methyladenosine RNA binding protein F1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:35038059 NCBI chr 3:168,024,660...168,040,172
Ensembl chr 3:168,024,663...168,040,172 		JBrowse link
G Yy1 YY1 transcription factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:35038059 NCBI chr 6:127,706,739...127,736,499
Ensembl chr 6:127,707,596...127,732,747 		JBrowse link
myeloproliferative disorder with eosinophilia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pdgfrb platelet derived growth factor receptor beta ISO ClinVar Annotator: match by term: EOSINOPHILS, MALIGNANT PROLIFERATION OF | ClinVar Annotator: match by term: Myeloproliferative disorder, chronic, with eosinophilia
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:25454926 PMID:25741868 PMID:26455322 PMID:28492532 PMID:29226947 More... NCBI chr18:54,499,962...54,538,840
Ensembl chr18:54,499,964...54,538,843 		JBrowse link
Neurodevelopmental Disorder with Facial Dysmorphism, Absent Language, and Pseudo-Pelger-Huet Anomaly term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tmem147 transmembrane protein 147 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with facial dysmorphism, absent language, and pseudo-pelger-huet anomaly | ClinVar Annotator: match by term: TMEM147-related condition OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:36044892 NCBI chr 1:85,977,028...85,978,848
Ensembl chr 1:85,977,025...85,978,868 		JBrowse link
neutropenia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcb1a ATP binding cassette subfamily B member 1A ISO CTD Direct Evidence: marker/mechanism CTD PMID:16950614 PMID:25007187 NCBI chr 4:25,357,467...25,529,941
Ensembl chr 4:25,158,362...25,442,709 		JBrowse link
G Ankrd11 ankyrin repeat domain containing 11 ISO ClinVar Annotator: match by term: Neutropenia ClinVar NCBI chr19:50,940,284...51,098,962
Ensembl chr19:50,940,299...51,098,962 		JBrowse link
G Ap3b1 adaptor related protein complex 3 subunit beta 1 ISO RGD PMID:12125811 RGD:1578409 NCBI chr 2:25,600,069...25,800,937
Ensembl chr 2:25,600,040...25,800,935 		JBrowse link
G Atp6ap1 ATPase H+ transporting accessory protein 1 ISO ClinVar Annotator: match by term: Neutropenia ClinVar PMID:28492532 NCBI chr  X:152,079,954...152,087,034
Ensembl chr  X:152,079,865...152,087,034 		JBrowse link
G C1h16orf92 similar to human chromosome 16 open reading frame 92 ISO ClinVar Annotator: match by term: Neutropenia ClinVar NCBI chr 1:181,434,524...181,441,000 JBrowse link
G C5 complement C5 ISO
IDA		 RGD PMID:10516626 PMID:10188960 RGD:5130180, RGD:1600665 NCBI chr 3:18,270,696...18,361,994
Ensembl chr 3:18,270,696...18,361,994 		JBrowse link
G C5ar1 complement C5a receptor 1 IDA RGD PMID:10516626 RGD:5130180 NCBI chr 1:76,948,622...76,959,826 JBrowse link
G Ccnq cyclin Q ISO ClinVar Annotator: match by term: Neutropenia ClinVar PMID:28492532 NCBI chr10:63,646,532...63,647,695
Ensembl chr10:63,646,527...63,647,961 		JBrowse link
G Cfb complement factor B ISO ClinVar Annotator: match by term: Neutropenia ClinVar NCBI chr20:3,970,643...3,976,510
Ensembl chr20:3,951,474...3,976,505 		JBrowse link
G Chd1l chromodomain helicase DNA binding protein 1-like ISO ClinVar Annotator: match by term: Neutropenia ClinVar NCBI chr 2:185,138,526...185,217,498
Ensembl chr 2:185,139,308...185,217,595 		JBrowse link
G Clpb ClpB family mitochondrial disaggregase ISO ClinVar Annotator: match by term: Neutropenia ClinVar PMID:25597510 PMID:25597511 PMID:25741868 PMID:27290639 PMID:27891836 More... NCBI chr 1:156,028,740...156,158,183
Ensembl chr 1:156,028,930...156,168,788 		JBrowse link
G Csf2 colony stimulating factor 2 treatment ISO CTD Direct Evidence: therapeutic CTD
RGD		 PMID:7875148 PMID:11264156 PMID:10832225 RGD:10449510 NCBI chr10:38,386,945...38,388,926
Ensembl chr10:38,386,945...38,389,199 		JBrowse link
G Csf3 colony stimulating factor 3 ISO CTD Direct Evidence: marker/mechanism|therapeutic CTD
RGD		 PMID:7524159 PMID:7529132 PMID:7543699 PMID:7688884 PMID:9740541 More... RGD:11039039 NCBI chr10:83,660,787...83,664,569
Ensembl chr10:83,661,207...83,663,603 		JBrowse link
G Dpyd dihydropyrimidine dehydrogenase ISO CTD Direct Evidence: marker/mechanism CTD PMID:12562666 NCBI chr 2:206,609,043...207,474,982
Ensembl chr 2:206,609,122...207,474,982 		JBrowse link
G Elane elastase, neutrophil expressed ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Neutropenia		 CTD
ClinVar		 PMID:9536098 PMID:10581030 PMID:17436313 PMID:17576681 PMID:20049848 More... NCBI chr 7:9,817,251...9,819,174
Ensembl chr 7:9,817,252...9,819,100 		JBrowse link
G Ephx1 epoxide hydrolase 1 ISO ClinVar Annotator: match by term: Neutropenia ClinVar NCBI chr13:92,714,315...92,744,105
Ensembl chr13:92,714,315...92,790,235 		JBrowse link
G Fcgr2a Fc gamma receptor 2A ISO DNA:SNP:cds:p.R131H (human) RGD PMID:11295474 RGD:11040988 NCBI chr13:83,280,782...83,297,535
Ensembl chr13:83,280,784...83,295,967 		JBrowse link
G Fcgr2b Fc gamma receptor 2B ISO CTD Direct Evidence: marker/mechanism CTD PMID:10848805 NCBI chr13:83,191,253...83,207,778
Ensembl chr13:83,193,163...83,207,778 		JBrowse link
G Gfi1 growth factor independent 1 transcriptional repressor ISO DNA:mutation:exon: RGD PMID:11810106 PMID:22684987 RGD:11040449, RGD:11040456 NCBI chr14:2,040,576...2,056,874
Ensembl chr14:2,042,434...2,051,814 		JBrowse link
G Gstt1 glutathione S-transferase theta 1 susceptibility ISO RGD PMID:19555437 RGD:10450844 NCBI chr20:12,856,613...12,873,586
Ensembl chr20:12,856,669...12,873,585 		JBrowse link
G Hax1 HCLS1 associated protein X-1 ISO ClinVar Annotator: match by term: Neutropenia ClinVar PMID:28492532 PMID:32581362 NCBI chr 2:175,434,242...175,437,926
Ensembl chr 2:175,434,238...175,437,714 		JBrowse link
G Hoxd13 homeo box D13 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27725143 NCBI chr 3:59,570,647...59,573,963
Ensembl chr 3:59,570,646...59,573,963 		JBrowse link
G Il1b interleukin 1 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:1884014 NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415 		JBrowse link
G Itgam integrin subunit alpha M IMP associated with Brain Contusion RGD PMID:8835801 RGD:329901911 NCBI chr 1:182,659,047...182,709,501
Ensembl chr 1:182,659,000...182,709,503 		JBrowse link
G Jagn1 jagunal homolog 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25129144 PMID:25129145 NCBI chr 4:146,591,577...146,596,287
Ensembl chr 4:146,591,510...146,596,288 		JBrowse link
G Kif11 kinesin family member 11 ISO ClinVar Annotator: match by term: Neutropenia ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:235,124,371...235,176,760
Ensembl chr 1:235,124,316...235,176,766 		JBrowse link
G Lims2 LIM zinc finger domain containing 2 ISO ClinVar Annotator: match by term: Neutropenia ClinVar NCBI chr18:23,553,937...23,592,137
Ensembl chr18:23,553,937...23,592,137 		JBrowse link
G Mki67 marker of proliferation Ki-67 ISO protein:increased expression:blood, T cell RGD PMID:22092365 RGD:6483522 NCBI chr 1:190,496,319...190,522,983
Ensembl chr 1:190,496,319...190,522,762 		JBrowse link
G Mthfr methylenetetrahydrofolate reductase ISO CTD Direct Evidence: marker/mechanism CTD PMID:19391036 NCBI chr 5:158,465,248...158,484,999
Ensembl chr 5:158,465,296...158,483,797 		JBrowse link
G Muc16 mucin 16, cell surface associated ISO ClinVar Annotator: match by term: Neutropenia ClinVar NCBI chr 8:16,164,531...16,323,126 JBrowse link
G Nudt15 nudix hydrolase 15 ISS MouseDO NCBI chr15:48,707,776...48,713,847
Ensembl chr15:48,709,700...48,747,363 		JBrowse link
G Nup98 nucleoporin 98 and 96 precursor ISO CTD Direct Evidence: marker/mechanism CTD PMID:27725143 NCBI chr 1:156,494,423...156,591,415
Ensembl chr 1:156,494,423...156,591,415 		JBrowse link
G Pkp3 plakophilin 3 ISO ClinVar Annotator: match by term: Neutropenia ClinVar NCBI chr 1:196,187,914...196,198,843
Ensembl chr 1:196,187,835...196,198,844 		JBrowse link
G Polr3c RNA polymerase III subunit C ISO ClinVar Annotator: match by term: Neutropenia ClinVar NCBI chr 2:184,246,201...184,262,150
Ensembl chr 2:184,246,204...184,262,208 		JBrowse link
G Ptafr platelet-activating factor receptor treatment IMP RGD PMID:3011900 RGD:10043179 NCBI chr 5:144,765,770...144,795,057
Ensembl chr 5:144,765,976...144,795,251 		JBrowse link
G Rnf128 ring finger protein 128 ISO ClinVar Annotator: match by term: Neutropenia ClinVar PMID:25741868 NCBI chr  X:103,183,643...103,298,431
Ensembl chr  X:103,183,831...103,298,423 		JBrowse link
G Rps14 ribosomal protein S14 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27725143 NCBI chr18:54,227,854...54,232,638
Ensembl chr18:54,227,854...54,233,166 		JBrowse link
G Slc34a1 solute carrier family 34 member 1 ISO ClinVar Annotator: match by term: Neutropenia ClinVar PMID:25741868 PMID:28492532 NCBI chr17:9,218,876...9,233,852
Ensembl chr17:9,218,876...9,233,852 		JBrowse link
G Smarcd2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28369036 NCBI chr10:91,193,752...91,202,817
Ensembl chr10:91,193,752...91,204,341 		JBrowse link
G Stat2 signal transducer and activator of transcription 2 susceptibility ISO associated with Chronic Hepatitis C;DNA:SNP:intron 5:g.4757G>T (human) RGD PMID:19200137 RGD:41789633 NCBI chr 7:702,565...718,349
Ensembl chr 7:702,495...718,967 		JBrowse link
G Stat3 signal transducer and activator of transcription 3 IAGP associated with T-cell large granular lymphocyte leukemia RGD PMID:22591296 RGD:6892936 NCBI chr10:85,811,206...85,863,057
Ensembl chr10:85,811,218...85,863,057 		JBrowse link
G Tle2 TLE family member 2, transcriptional corepressor ISO ClinVar Annotator: match by term: Neutropenia ClinVar NCBI chr 7:8,119,049...8,135,385
Ensembl chr 7:8,119,053...8,134,306 		JBrowse link
G Tmem63a transmembrane protein 63a ISO ClinVar Annotator: match by term: Neutropenia ClinVar NCBI chr13:92,662,872...92,696,186
Ensembl chr13:92,663,968...92,696,183 		JBrowse link
G Tnf tumor necrosis factor ISO RGD PMID:15986200 RGD:1580321 NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629 		JBrowse link
G Tnfrsf10b TNF receptor superfamily member 10b ISO CTD Direct Evidence: marker/mechanism CTD PMID:19652058 NCBI chr15:44,840,386...44,868,318
Ensembl chr15:44,840,386...44,867,467 		JBrowse link
G Tpmt thiopurine S-methyltransferase ISO CTD Direct Evidence: marker/mechanism CTD PMID:18662289 NCBI chr17:17,644,088...17,662,709
Ensembl chr17:17,644,173...17,662,709 		JBrowse link
G Ugt1a1 UDP glucuronosyltransferase family 1 member A1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17549067 NCBI chr 9:88,801,344...88,808,465
Ensembl chr 9:88,713,184...88,808,465 		JBrowse link
G Usp3 ubiquitin specific peptidase 3 ISO ClinVar Annotator: match by term: Neutropenia ClinVar NCBI chr 8:67,078,249...67,154,109
Ensembl chr 8:67,079,927...67,154,111 		JBrowse link
G Vps16 VPS16 core subunit of CORVET and HOPS complexes ISO ClinVar Annotator: match by term: Neutropenia ClinVar NCBI chr 3:117,622,534...117,644,041
Ensembl chr 3:117,622,542...117,646,441 		JBrowse link
G Xdh xanthine dehydrogenase ISO ClinVar Annotator: match by term: Neutropenia ClinVar PMID:25741868 PMID:28492532 PMID:30755392 NCBI chr 6:21,530,463...21,592,172
Ensembl chr 6:21,530,113...21,592,268 		JBrowse link
G Zc3h3 zinc finger CCCH type containing 3 ISO ClinVar Annotator: match by term: Neutropenia ClinVar NCBI chr 7:107,440,694...107,525,451
Ensembl chr 7:107,440,694...107,525,451 		JBrowse link
Neutrophilia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Csf3 colony stimulating factor 3 treatment ISO RGD PMID:2475183 RGD:11039032 NCBI chr10:83,660,787...83,664,569
Ensembl chr10:83,661,207...83,663,603 		JBrowse link
G Ptafr platelet-activating factor receptor treatment IMP associated with Scorpion Stings RGD PMID:10770284 RGD:10043145 NCBI chr 5:144,765,770...144,795,057
Ensembl chr 5:144,765,976...144,795,251 		JBrowse link
Nonimmune Chronic Idiopathic Neutropenia, Adult term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gfi1 growth factor independent 1 transcriptional repressor ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Nonimmune chronic idiopathic neutropenia of adults		 OMIM
CTD
ClinVar		 PMID:11807637 PMID:12778173 PMID:25741868 PMID:28492532 NCBI chr14:2,040,576...2,056,874
Ensembl chr14:2,042,434...2,051,814 		JBrowse link
G Tert telomerase reverse transcriptase ISO RGD PMID:22133767 RGD:11038657 NCBI chr 1:29,637,213...29,659,561
Ensembl chr 1:29,637,506...29,659,561 		JBrowse link
Omenn syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dclre1c DNA cross-link repair 1C ISO ClinVar Annotator: match by term: Severe combined immunodeficiency with hypereosinophilia
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:25741868 PMID:28492532 NCBI chr17:74,775,828...74,810,089
Ensembl chr17:74,776,935...74,809,186 		JBrowse link
G Rag1 recombination activating 1 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency with hypereosinophilia
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:2682973 PMID:8810255 PMID:9630231 PMID:10606976 PMID:10891452 More... NCBI chr 3:87,917,061...87,928,158
Ensembl chr 3:87,917,004...87,928,291 		JBrowse link
G Rag2 recombination activating 2 ISO
ISS		 ClinVar Annotator: match by term: Severe combined immunodeficiency with hypereosinophilia
OMIM:603554
CTD Direct Evidence: marker/mechanism		 ClinVar
MouseDO
CTD
OMIM
RGD		 PMID:10777560 PMID:11138625 PMID:11313270 PMID:15025726 PMID:16960852 More... RGD:1599403 NCBI chr 3:87,902,373...87,910,227
Ensembl chr 3:87,902,238...87,911,066 		JBrowse link
Pdgfra-Associated Chronic Eosinophilic Leukemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fip1l1 factor interacting with PAPOLA and CPSF1 ISO DNA:gene fusion RGD PMID:22806436 RGD:11075089 NCBI chr14:33,615,210...33,675,742
Ensembl chr14:33,617,720...33,675,708 		JBrowse link
G Pdgfra platelet derived growth factor receptor alpha ISO DNA:gene fusion RGD PMID:22806436 RGD:11075089 NCBI chr14:33,005,838...33,054,347
Ensembl chr14:33,005,839...33,054,335 		JBrowse link
Pelger-Huet anomaly term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lbr lamin B receptor susceptibility ISO
ISS		 DNA:splice-site mutations, frameshift mutations, nonsense mutations
ClinVar Annotator: match by term: Ovoid neutrophil nuclei, developmental delay, epilepsy and skeletal abnormalities | ClinVar Annotator: match by term: Pelger-Huet Anomaly | ClinVar Annotator: match by term: Pelger-Huët anomaly
OMIM:169400
CTD Direct Evidence: marker/mechanism
DNA:missense mutation, splice-site mutation:exon, intron:p.P119L, IVS11-9A>G (human)
DNA:nonsense mutation, frameshift mutations		 ClinVar
MouseDO
CTD
OMIM
RGD		 PMID:12118250 PMID:14617022 PMID:18382993 PMID:21327084 PMID:23824842 More... RGD:1600215, RGD:11062007, RGD:11061939 NCBI chr13:93,539,386...93,564,026
Ensembl chr13:93,538,920...93,564,017 		JBrowse link
PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lbr lamin B receptor ISO ClinVar Annotator: match by term: PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES | ClinVar Annotator: match by term: RHIZOMELIC SKELETAL DYSPLASIA WITH PELGER-HUET ANOMALY OMIM
ClinVar		 PMID:18382993 PMID:23824842 PMID:25348816 PMID:25741868 PMID:28492532 More... NCBI chr13:93,539,386...93,564,026
Ensembl chr13:93,538,920...93,564,017 		JBrowse link
Persistent Polyclonal B-Cell Lymphocytosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Card11 caspase recruitment domain family, member 11 ISO DNA:missense mutations:cds:p.E127G, p.G116S (human) RGD PMID:23129749 RGD:11100033 NCBI chr12:13,621,140...13,758,115
Ensembl chr12:13,621,087...13,758,112 		JBrowse link
phagocyte bactericidal dysfunction term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cyba cytochrome b-245 alpha chain ISO DNA:mutations: :multiple (human) RGD PMID:18422995 RGD:4779762 NCBI chr19:50,487,598...50,495,669
Ensembl chr19:50,487,597...50,495,721 		JBrowse link
G G6pd glucose-6-phosphate dehydrogenase ISO CTD Direct Evidence: marker/mechanism CTD PMID:4125296 NCBI chr  X:152,201,081...152,220,863
Ensembl chr  X:152,201,098...152,220,801 		JBrowse link
plasma cell leukemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cd40 CD40 molecule ISO RGD PMID:20616215 RGD:5490532 NCBI chr 3:153,790,372...153,805,279
Ensembl chr 3:153,790,449...153,805,534 		JBrowse link
G Tert telomerase reverse transcriptase ISO RGD PMID:11237381 RGD:11038665 NCBI chr 1:29,637,213...29,659,561
Ensembl chr 1:29,637,506...29,659,561 		JBrowse link
plasma cell neoplasm term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G B2m beta-2 microglobulin ISO ClinVar Annotator: match by term: Plasma cell dyscrasia ClinVar PMID:26619011 NCBI chr 3:109,095,740...109,101,764
Ensembl chr 3:109,095,729...109,101,766 		JBrowse link
G Bcl2l1 Bcl2-like 1 severity ISO RGD PMID:15725478 RGD:11353872 NCBI chr 3:141,253,508...141,304,582
Ensembl chr 3:141,253,523...141,303,479 		JBrowse link
G Braf B-Raf proto-oncogene, serine/threonine kinase ISO ClinVar Annotator: match by term: Plasma cell dyscrasia ClinVar PMID:12068308 PMID:12198537 PMID:12447372 PMID:12460918 PMID:12460919 More... NCBI chr 4:68,375,484...68,510,652
Ensembl chr 4:68,384,649...68,510,463 		JBrowse link
G Fgfr3 fibroblast growth factor receptor 3 ISO ClinVar Annotator: match by term: Plasma cell dyscrasia ClinVar PMID:1908846 PMID:7773297 PMID:8599935 PMID:8640234 PMID:8754806 More... NCBI chr14:76,987,242...77,002,671
Ensembl chr14:76,987,993...77,003,341 		JBrowse link
G Hras HRas proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Plasma cell dyscrasia ClinVar PMID:11150980 PMID:12835555 PMID:16155195 PMID:16170316 PMID:16329078 More... NCBI chr 1:196,290,127...196,299,823
Ensembl chr 1:196,296,263...196,300,615 		JBrowse link
G Idh1 isocitrate dehydrogenase (NADP(+)) 1 ISO ClinVar Annotator: match by term: Plasma cell dyscrasia ClinVar PMID:18772396 PMID:19657110 PMID:19798509 PMID:19818334 PMID:20946881 More... NCBI chr 9:66,534,146...66,563,703
Ensembl chr 9:66,534,146...66,563,708 		JBrowse link
G Idh2 isocitrate dehydrogenase (NADP(+)) 2 ISO ClinVar Annotator: match by term: Plasma cell dyscrasia ClinVar PMID:20171147 PMID:20847235 PMID:20946881 PMID:21647154 PMID:21889589 More... NCBI chr 1:134,038,644...134,057,969
Ensembl chr 1:134,029,772...134,058,025 		JBrowse link
G Kras KRAS proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Plasma cell dyscrasia ClinVar PMID:2278970 PMID:3122217 PMID:12460918 PMID:15696205 PMID:16361624 More... NCBI chr 4:178,185,418...178,218,484 JBrowse link
G Lig4 DNA ligase 4 ISO ClinVar Annotator: match by term: Plasma cell dyscrasia ClinVar PMID:11779494 PMID:15333585 PMID:16088910 PMID:24123394 PMID:24759409 More... NCBI chr16:79,518,393...79,526,956
Ensembl chr16:79,518,312...79,527,040 		JBrowse link
G Lrrc56 leucine rich repeat containing 56 ISO ClinVar Annotator: match by term: Plasma cell dyscrasia ClinVar PMID:11150980 PMID:12835555 PMID:16155195 PMID:16170316 PMID:16329078 More... NCBI chr 1:196,299,843...196,315,170
Ensembl chr 1:196,299,846...196,315,172 		JBrowse link
G Myd88 MYD88, innate immune signal transduction adaptor ISO ClinVar Annotator: match by term: Plasma cell dyscrasia ClinVar PMID:21179087 PMID:22931316 PMID:23215570 PMID:23355535 PMID:26619011 More... NCBI chr 8:119,074,439...119,078,508
Ensembl chr 8:119,074,437...119,079,415 		JBrowse link
G Nras NRAS proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Plasma cell dyscrasia ClinVar PMID:1654209 PMID:2278970 PMID:2407301 PMID:2674680 PMID:2989702 More... NCBI chr 2:190,582,885...190,593,509
Ensembl chr 2:190,582,918...190,591,626 		JBrowse link
G Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha ISO ClinVar Annotator: match by term: Plasma cell dyscrasia ClinVar PMID:17376864 PMID:18074223 PMID:20581867 PMID:25741868 PMID:26619011 More... NCBI chr 2:115,175,275...115,249,034
Ensembl chr 2:115,174,984...115,249,032 		JBrowse link
G Ptpn11 protein tyrosine phosphatase, non-receptor type 11 ISO ClinVar Annotator: match by term: Plasma cell dyscrasia ClinVar PMID:11704759 PMID:12634870 PMID:12717436 PMID:14644997 PMID:14974085 More... NCBI chr12:35,365,436...35,424,925
Ensembl chr12:35,383,144...35,424,925 		JBrowse link
G Tp53 tumor protein p53 ISO ClinVar Annotator: match by term: Plasma cell dyscrasia ClinVar PMID:253702 PMID:960674 PMID:1359493 PMID:1565143 PMID:1565144 More... NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524 		JBrowse link
plasmacytoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aicda activation-induced cytidine deaminase treatment ISO RGD PMID:20404277 RGD:11039454 NCBI chr 4:155,774,132...155,783,972
Ensembl chr 4:155,774,132...155,783,972 		JBrowse link
G Bcl2 BCL2, apoptosis regulator susceptibility ISO human gene in a mouse model RGD PMID:14695177 RGD:11526108 NCBI chr13:22,689,783...22,853,920
Ensembl chr13:22,684,989...22,853,743
Ensembl chr13:22,684,989...22,853,743 		JBrowse link
G Cdkn2a cyclin-dependent kinase inhibitor 2A ISO RGD PMID:11113205 RGD:11251742 NCBI chr 5:103,984,949...103,992,143
Ensembl chr 5:103,984,949...104,003,149 		JBrowse link
G Il10 interleukin 10 ISO RGD PMID:26140236 RGD:11049175 NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313 		JBrowse link
G Robo1 roundabout guidance receptor 1 ameliorates ISO RGD PMID:34268498 RGD:243048419 NCBI chr11:10,580,863...11,621,675
Ensembl chr11:10,580,908...11,620,203 		JBrowse link
G Tnf tumor necrosis factor treatment ISO RGD PMID:2022919 RGD:10449448 NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629 		JBrowse link
poikiloderma with neutropenia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Usb1 U6 snRNA biogenesis phosphodiesterase 1 ISO ClinVar Annotator: match by term: Poikiloderma with neutropenia
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:11737690 PMID:16199547 PMID:18925663 PMID:20004881 PMID:20503306 More... NCBI chr19:9,689,313...9,702,306
Ensembl chr19:9,689,316...9,702,302 		JBrowse link
Presentey Anomaly term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Epx eosinophil peroxidase ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Eosinophil peroxidase deficiency		 OMIM
CTD
ClinVar		 PMID:7809065 PMID:11241847 PMID:25741868 PMID:28492532 NCBI chr10:72,666,865...72,677,952
Ensembl chr10:72,666,865...72,677,952 		JBrowse link
pulmonary eosinophilia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adam8 ADAM metallopeptidase domain 8 ISO protein:increased expression:serum RGD PMID:19625177 RGD:5128874 NCBI chr 1:194,776,559...194,789,330
Ensembl chr 1:194,770,060...194,788,801 		JBrowse link
G C3 complement C3 ISO RGD PMID:23549917 RGD:7401272 NCBI chr 9:2,087,437...2,114,366
Ensembl chr 9:2,087,437...2,114,429 		JBrowse link
G Ccl1 C-C motif chemokine ligand 1 ISO associated with Asthma RGD PMID:12707363 RGD:4891412 NCBI chr10:67,128,331...67,131,109
Ensembl chr10:67,128,331...67,131,159 		JBrowse link
G Ccl11 C-C motif chemokine ligand 11 ISO RGD PMID:12750406 RGD:4145437 NCBI chr10:67,028,328...67,032,929
Ensembl chr10:67,028,328...67,032,926 		JBrowse link
G Ccl17 C-C motif chemokine ligand 17 ISO protein:increased expression:respiratory system fluid/secretion RGD PMID:11956056 RGD:4145602 NCBI chr19:10,202,128...10,203,903
Ensembl chr19:10,202,128...10,203,819 		JBrowse link
G Ccr3 C-C motif chemokine receptor 3 ISO RGD PMID:20732990 RGD:4145617 NCBI chr 8:123,586,100...123,634,178
Ensembl chr 8:123,616,236...123,634,990 		JBrowse link
G Cd44 CD44 molecule ISO RGD PMID:12750406 RGD:4145437 NCBI chr 3:89,155,850...89,244,615
Ensembl chr 3:89,157,058...89,244,620 		JBrowse link
G Epas1 endothelial PAS domain protein 1 ISO RGD PMID:24218148 RGD:11041569 NCBI chr 6:7,790,236...7,871,717
Ensembl chr 6:7,790,647...7,871,228 		JBrowse link
G Il10 interleukin 10 ISO protein:increased expression:lung RGD PMID:20796249 RGD:4140455 NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313 		JBrowse link
G Il13 interleukin 13 ISO associated with Respiratory Syncytial Virus Infections RGD PMID:12574374 RGD:8549597 NCBI chr10:37,790,130...37,792,687
Ensembl chr10:37,790,130...37,792,737 		JBrowse link
G Il1rn interleukin 1 receptor antagonist ISO protein:increased expression:Bronchoalveolar lavage: RGD PMID:24706315 RGD:11528542 NCBI chr 3:7,111,567...7,127,451
Ensembl chr 3:7,111,550...7,127,445 		JBrowse link
G Il5 interleukin 5 treatment ISO associated with Pulmonary Fibrosis;protein:increased expression:respiratory system fluid/secretion
associated with respiratory syncytial virus infection		 RGD PMID:9712797 PMID:17597386 PMID:10471622 PMID:12765419 PMID:18519743 RGD:4890961, RGD:11354949, RGD:11354935, RGD:4890956, RGD:4890941 NCBI chr10:37,874,342...37,877,213
Ensembl chr10:37,874,342...37,877,213 		JBrowse link
G Itgb2 integrin subunit beta 2 ISO protein:increased expression:lung (mouse) RGD PMID:7743671 RGD:8547590 NCBI chr20:11,061,394...11,097,656
Ensembl chr20:11,061,430...11,097,600 		JBrowse link
G Myd88 MYD88, innate immune signal transduction adaptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:29067999 NCBI chr 8:119,074,439...119,078,508
Ensembl chr 8:119,074,437...119,079,415 		JBrowse link
G Nos2 nitric oxide synthase 2 ISO RGD PMID:18829681 RGD:4891506 NCBI chr10:63,815,308...63,851,208
Ensembl chr10:63,815,308...63,851,210 		JBrowse link
G Nos3 nitric oxide synthase 3 ISO RGD PMID:16714207 RGD:4892061 NCBI chr 4:10,793,834...10,814,170
Ensembl chr 4:10,793,834...10,814,166 		JBrowse link
G Scgb1a1 secretoglobin family 1A member 1 ISO protein:decreased expression:serum RGD PMID:15467329 RGD:5144148 NCBI chr 1:205,977,060...205,980,610
Ensembl chr 1:205,977,060...205,980,610 		JBrowse link
G Tbxa2r thromboxane A2 receptor treatment ISO RGD PMID:22802632 RGD:11059529 NCBI chr 7:8,383,347...8,390,753
Ensembl chr 7:8,383,378...8,388,176 		JBrowse link
reticular dysgenesis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ak2 adenylate kinase 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Reticular dysgenesis
DNA:missense,nonsense mutations:cds:		 OMIM
CTD
ClinVar
RGD		 PMID:9536098 PMID:17576681 PMID:19043416 PMID:19043417 PMID:19414857 More... RGD:11100026 NCBI chr 5:141,308,650...141,364,633
Ensembl chr 5:141,346,063...141,364,632 		JBrowse link
Schnitzler syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Il1a interleukin 1 alpha ISO RGD PMID:1831824 RGD:7794711 NCBI chr 3:116,526,601...116,537,055
Ensembl chr 3:116,526,604...116,536,822 		JBrowse link
G Il1rn interleukin 1 receptor antagonist susceptibility ISO CTD Direct Evidence: therapeutic CTD
RGD		 PMID:16096327 PMID:16096327 RGD:11522758 NCBI chr 3:7,111,567...7,127,451
Ensembl chr 3:7,111,550...7,127,445 		JBrowse link
Severe Chronic Neutropenia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Csf3r colony stimulating factor 3 receptor ISO RGD PMID:9639496 RGD:10450484 NCBI chr 5:138,298,605...138,318,224
Ensembl chr 5:138,301,506...138,317,881 		JBrowse link
severe congenital neutropenia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Csf3r colony stimulating factor 3 receptor disease_progression ISO ClinVar Annotator: match by term: Severe congenital neutropenia ClinVar
RGD		 PMID:24753537 PMID:26324699 PMID:28492532 PMID:28652245 PMID:31321910 More... RGD:10450485, RGD:10450533 NCBI chr 5:138,298,605...138,318,224
Ensembl chr 5:138,301,506...138,317,881 		JBrowse link
G Elane elastase, neutrophil expressed ISO mRNA:decreased expression:myeloid CD33+ cell:
DNA:mutations: :
DNA:mutation:intron:c.597+1G>A (human)		 RGD PMID:10581030 PMID:19620402 PMID:21425445 PMID:24616599 RGD:1598891, RGD:10450525, RGD:10450519, RGD:10450514 NCBI chr 7:9,817,251...9,819,174
Ensembl chr 7:9,817,252...9,819,100 		JBrowse link
G Fcho1 FCH and mu domain containing endocytic adaptor 1 ISO ClinVar Annotator: match by term: Severe congenital neutropenia ClinVar PMID:30822429 PMID:32098969 NCBI chr16:18,413,452...18,430,795
Ensembl chr16:18,413,363...18,435,104 		JBrowse link
G G6pc3 glucose 6 phosphatase catalytic subunit 3 ISO ClinVar Annotator: match by term: Severe congenital neutropenia ClinVar NCBI chr10:87,146,987...87,151,223
Ensembl chr10:87,146,901...87,151,221 		JBrowse link
G Gfi1 growth factor independent 1 transcriptional repressor ISS OMIM:202700 | OMIM:300299 | OMIM:610738 | OMIM:612541 | OMIM:613107 | OMIM:615285 | OMIM:616022 MouseDO NCBI chr14:2,040,576...2,056,874
Ensembl chr14:2,042,434...2,051,814 		JBrowse link
G Hax1 HCLS1 associated protein X-1 ISO ClinVar Annotator: match by term: Severe congenital neutropenia ClinVar PMID:16199547 PMID:17187068 PMID:19036076 PMID:19499579 PMID:22624626 More... NCBI chr 2:175,434,242...175,437,926
Ensembl chr 2:175,434,238...175,437,714 		JBrowse link
G Jagn1 jagunal homolog 1 ISO ClinVar Annotator: match by term: Severe congenital neutropenia ClinVar PMID:25129144 PMID:25741868 PMID:25851723 PMID:27980538 PMID:28492532 More... NCBI chr 4:146,591,577...146,596,287
Ensembl chr 4:146,591,510...146,596,288 		JBrowse link
G Tcirg1 T-cell immune regulator 1, ATPase H+ transporting V0 subunit A3 ISO ClinVar Annotator: match by term: Congenital neutropenia ClinVar PMID:24753205 NCBI chr 1:201,127,034...201,138,787
Ensembl chr 1:201,127,034...201,138,742 		JBrowse link
severe congenital neutropenia 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Elane elastase, neutrophil expressed ISO ClinVar Annotator: match by term: ELANE-related condition | ClinVar Annotator: match by term: Neutropenia, severe congenital, 1, autosomal dominant
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:3229910 PMID:9536098 PMID:10581030 PMID:11001877 PMID:11278653 More... NCBI chr 7:9,817,251...9,819,174
Ensembl chr 7:9,817,252...9,819,100 		JBrowse link
G Tcirg1 T-cell immune regulator 1, ATPase H+ transporting V0 subunit A3 ISO ClinVar Annotator: match by term: Neutropenia, severe congenital, 1, autosomal dominant ClinVar PMID:24753205 NCBI chr 1:201,127,034...201,138,787
Ensembl chr 1:201,127,034...201,138,742 		JBrowse link
G Vps13b vacuolar protein sorting 13 homolog B ISO ClinVar Annotator: match by term: Neutropenia, severe congenital, 1, autosomal dominant ClinVar PMID:16648375 PMID:25741868 PMID:28492532 NCBI chr 7:66,557,862...67,128,429
Ensembl chr 7:66,558,471...67,128,429 		JBrowse link
Severe Congenital Neutropenia 10 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Galr2 galanin receptor 2 ISO ClinVar Annotator: match by term: Neutropenia, severe congenital, 10, autosomal recessive ClinVar PMID:32273475 NCBI chr10:101,513,689...101,517,176
Ensembl chr10:101,514,471...101,517,176 		JBrowse link
G Srp68 signal recognition particle 68 ISO ClinVar Annotator: match by term: Neutropenia, severe congenital, 10, autosomal recessive OMIM
ClinVar		 PMID:32273475 NCBI chr10:101,481,213...101,508,035
Ensembl chr10:101,481,212...101,508,035 		JBrowse link
Severe Congenital Neutropenia 11, Autosomal Dominant term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sec61a1 SEC61 translocon subunit alpha 1 ISO ClinVar Annotator: match by term: Neutropenia, severe congenital, 11, autosomal dominant OMIM
ClinVar		 PMID:32325141 NCBI chr 4:120,973,519...120,987,871
Ensembl chr 4:120,960,626...120,987,925 		JBrowse link
severe congenital neutropenia 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Clpb ClpB family mitochondrial disaggregase ISO ClinVar Annotator: match by term: Neutropenia, severe congenital, 2, autosomal dominant ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:156,028,740...156,158,183
Ensembl chr 1:156,028,930...156,168,788 		JBrowse link
G Dipk1a divergent protein kinase domain 1A ISO ClinVar Annotator: match by term: Neutropenia, severe congenital, 2, autosomal dominant ClinVar PMID:28492532 NCBI chr14:1,772,412...1,843,508
Ensembl chr14:1,772,422...1,843,743 		JBrowse link
G Evi5 ecotropic viral integration site 5 ISO ClinVar Annotator: match by term: Neutropenia, severe congenital, 2, autosomal dominant ClinVar PMID:28492532 NCBI chr14:1,875,601...2,021,678
Ensembl chr14:1,875,647...2,021,678 		JBrowse link
G Gfi1 growth factor independent 1 transcriptional repressor ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Neutropenia, severe congenital, 2, autosomal dominant		 OMIM
CTD
ClinVar		 PMID:9536098 PMID:11807637 PMID:12778173 PMID:17576681 PMID:20560965 More... NCBI chr14:2,040,576...2,056,874
Ensembl chr14:2,042,434...2,051,814 		JBrowse link
G Rpl5 ribosomal protein L5 ISO ClinVar Annotator: match by term: Neutropenia, severe congenital, 2, autosomal dominant ClinVar PMID:28492532 NCBI chr14:1,843,856...1,850,301
Ensembl chr14:1,843,770...1,850,290 		JBrowse link
G Snord21 small nucleolar RNA, C/D box 21 ISO ClinVar Annotator: match by term: Neutropenia, severe congenital, 2, autosomal dominant ClinVar PMID:28492532 NCBI chr14:1,847,134...1,847,227
Ensembl chr14:1,847,134...1,847,227 		JBrowse link
severe congenital neutropenia 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adam15 ADAM metallopeptidase domain 15 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 2:174,754,629...174,765,136
Ensembl chr 2:174,754,633...174,765,113 		JBrowse link
G Adamtsl4 ADAMTS-like 4 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 2:183,235,634...183,247,091
Ensembl chr 2:183,235,646...183,246,848 		JBrowse link
G Adar adenosine deaminase, RNA-specific ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:17187068 PMID:28492532 NCBI chr 2:175,138,391...175,178,280
Ensembl chr 2:175,138,403...175,178,282 		JBrowse link
G Anp32e acidic nuclear phosphoprotein 32 family member E ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 2:183,472,600...183,489,057
Ensembl chr 2:183,472,609...183,489,054 		JBrowse link
G Anxa9 annexin A9 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 2:182,873,185...182,884,501
Ensembl chr 2:182,872,929...182,883,374 		JBrowse link
G Aph1a aph-1 homolog A, gamma secretase subunit ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 2:183,437,676...183,443,113
Ensembl chr 2:183,438,434...183,441,955 		JBrowse link
G Aqp10 aquaporin 10 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:17187068 PMID:28492532 NCBI chr 2:175,402,609...175,407,677
Ensembl chr 2:175,403,263...175,406,815 		JBrowse link
G Arhgef2 Rho/Rac guanine nucleotide exchange factor 2 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 2:174,061,126...174,118,355
Ensembl chr 2:174,062,976...174,118,355 		JBrowse link
G Arnt aryl hydrocarbon receptor nuclear translocator ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 2:182,997,731...183,056,584
Ensembl chr 2:182,997,736...183,056,580 		JBrowse link
G Ash1l ASH1 like histone lysine methyltransferase ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 2:174,346,267...174,483,057
Ensembl chr 2:174,346,150...174,483,055 		JBrowse link
G Atp8b2 ATPase phospholipid transporting 8B2 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:17187068 PMID:28492532 NCBI chr 2:175,378,514...175,402,265
Ensembl chr 2:175,378,517...175,401,883 		JBrowse link
G Bcan brevican ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 2:173,454,479...173,467,717
Ensembl chr 2:173,454,482...173,467,460 		JBrowse link
G Bglap bone gamma-carboxyglutamate protein ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 2:173,838,518...173,839,495
Ensembl chr 2:173,838,518...173,839,495 		JBrowse link
G Bnipl BCL2 interacting protein like ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 2:182,818,593...182,830,421
Ensembl chr 2:182,818,595...182,828,588 		JBrowse link
G C2cd4d C2 calcium-dependent domain containing 4D ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 2:181,999,778...182,001,941
Ensembl chr 2:181,997,078...182,002,087 		JBrowse link
G C2h1orf54 similar to human chromosome 1 open reading frame 54 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 2:183,424,989...183,434,713
Ensembl chr 2:183,424,984...183,435,089 		JBrowse link
G C2h1orf56 similar to human chromosome 1 open reading frame 56 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 2:182,814,794...182,818,387
Ensembl chr 2:182,814,793...182,818,512 		JBrowse link
G Car14 carbonic anhydrase 14 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 2:183,442,263...183,449,231
Ensembl chr 2:183,441,667...183,449,693 		JBrowse link
G Cct3 chaperonin containing TCP1 subunit 3 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 2:173,765,701...173,790,353
Ensembl chr 2:173,765,698...173,790,757 		JBrowse link
G Cdc42se1 CDC42 small effector 1 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 2:182,805,691...182,813,520
Ensembl chr 2:182,804,925...182,814,028 		JBrowse link
G Celf3 CUGBP, Elav-like family member 3 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 2:182,116,034...182,130,163
Ensembl chr 2:182,116,073...182,130,163 		JBrowse link
G Cers2 ceramide synthase 2 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 2:182,890,527...182,898,805
Ensembl chr 2:182,890,493...182,933,314 		JBrowse link
G Cfap141 cilia and flagella associated protein 141 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:17187068 PMID:28492532 NCBI chr 2:175,507,628...175,510,662
Ensembl chr 2:175,507,628...175,510,662 		JBrowse link
G Cgn cingulin ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 2:182,308,389...182,335,747
Ensembl chr 2:182,308,714...182,334,645 		JBrowse link
G Chrnb2 cholinergic receptor nicotinic beta 2 subunit ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:17187068 PMID:28492532 NCBI chr 2:175,181,402...175,189,619
Ensembl chr 2:175,181,402...175,189,619 		JBrowse link
G Chtop chromatin target of PRMT1 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 2:175,981,266...175,992,820
Ensembl chr 2:175,981,271...175,992,748 		JBrowse link
G Ciart circadian associated repressor of transcription ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 2:183,419,819...183,424,845
Ensembl chr 2:183,419,819...183,423,313 		JBrowse link
G Cks1b CDC28 protein kinase regulatory subunit 1B ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 2:174,833,025...174,837,614
Ensembl chr 2:174,833,050...174,837,636 		JBrowse link
G Clk2 CDC-like kinase 2 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 2:174,570,614...174,582,645
Ensembl chr 2:174,570,653...174,588,985 		JBrowse link
G Crabp2 cellular retinoic acid binding protein 2 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 2:173,417,004...173,421,352
Ensembl chr 2:173,416,857...173,421,379 		JBrowse link
G Crct1 cysteine-rich C-terminal 1 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 2:178,633,789...178,635,274
Ensembl chr 2:178,634,092...178,634,394 		JBrowse link
G Creb3l4 cAMP responsive element binding protein 3-like 4 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 2:175,690,340...175,695,846
Ensembl chr 2:175,690,335...175,695,932 		JBrowse link
G Crnn cornulin ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 2:178,733,329...178,736,404
Ensembl chr 2:178,731,796...178,736,216 		JBrowse link
G Crtc2 CREB regulated transcription coactivator 2 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 2:175,709,603...175,719,768
Ensembl chr 2:175,709,644...175,719,763 		JBrowse link
G Ctsk cathepsin K ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 2:183,058,586...183,069,551
Ensembl chr 2:183,058,569...183,069,550 		JBrowse link
G Ctss cathepsin S ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 2:183,086,437...183,114,483
Ensembl chr 2:183,086,437...183,114,483 		JBrowse link
G Dap3 death associated protein 3 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 2:174,319,341...174,347,489
Ensembl chr 2:174,318,983...174,346,461 		JBrowse link
G Dcst1 DC-STAMP domain containing 1 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 2:174,765,203...174,784,023
Ensembl chr 2:174,765,350...174,781,806 		JBrowse link
G Dcst2 DC-STAMP domain containing 2 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 2:174,781,806...174,795,834
Ensembl chr 2:174,781,902...174,795,832 		JBrowse link
G Dennd4b DENN domain containing 4B ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 2:175,720,473...175,736,425
Ensembl chr 2:175,709,610...175,736,426 		JBrowse link
G Dpm3 dolichyl-phosphate mannosyltransferase subunit 3, regulatory ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 2:174,676,532...174,677,047
Ensembl chr 2:174,676,363...174,677,668
Ensembl chr15:174,676,363...174,677,668 		JBrowse link
G Ecm1 extracellular matrix protein 1 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 2:183,287,491...183,292,729
Ensembl chr 2:183,287,322...183,292,671 		JBrowse link
G Efna1 ephrin A1 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 2:174,681,676...174,689,061
Ensembl chr 2:174,681,682...174,690,866 		JBrowse link
G Efna3 ephrin A3 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 2:174,729,192...174,738,111
Ensembl chr 2:174,729,764...174,738,736 		JBrowse link
G Efna4 ephrin A4 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 2:174,748,729...174,752,979
Ensembl chr 2:174,748,724...174,752,979 		JBrowse link
G Ensa endosulfine alpha ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 2:183,185,552...183,192,888
Ensembl chr 2:183,185,552...183,194,847 		JBrowse link
G Entrep3 endosomal transmembrane epsin interactor 3 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 2:174,588,984...174,595,281
Ensembl chr 2:174,589,337...174,595,281 		JBrowse link
G Fdps farnesyl diphosphate synthase ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 2:174,497,402...174,507,031
Ensembl chr 2:174,486,665...174,507,776 		JBrowse link
G Flad1 flavin adenine dinucleotide synthetase 1 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 2:174,819,451...174,828,921
Ensembl chr 2:174,819,453...174,828,977 		JBrowse link
G Flg filaggrin ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 2:178,884,793...178,912,986 JBrowse link
G Flg2 filaggrin 2 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 2:178,789,792...178,802,232 JBrowse link
G Gabpb2 GA binding protein transcription factor subunit beta 2 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 2:182,755,304...182,795,368
Ensembl chr 2:182,761,359...182,795,109 		JBrowse link
G Gatad2b GATA zinc finger domain containing 2B ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 2:175,748,594...175,829,837
Ensembl chr 2:175,749,433...175,825,542 		JBrowse link
G Gba1 glucosylceramidase beta 1 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 2:174,609,437...174,615,457
Ensembl chr 2:174,609,403...174,618,263 		JBrowse link
G Glmp glycosylated lysosomal membrane protein ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 2:173,794,273...173,797,863
Ensembl chr 2:173,794,255...173,799,960 		JBrowse link
G Golph3l golgi phosphoprotein 3-like ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 2:183,151,941...183,183,094
Ensembl chr 2:183,153,301...183,183,083 		JBrowse link
G Gon4l gon-4 like ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 2:174,233,461...174,306,636
Ensembl chr 2:174,233,461...174,306,634 		JBrowse link
G Gpatch4 G patch domain containing 4 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 2:173,499,700...173,520,346
Ensembl chr 2:173,509,897...173,518,684 		JBrowse link
G Hapln2 hyaluronan and proteoglycan link protein 2 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 2:173,488,909...173,496,824
Ensembl chr 2:173,491,160...173,496,588 		JBrowse link
G Hax1 HCLS1 associated protein X-1 ISO ClinVar Annotator: match by term: Kostmann syndrome
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:10581030 PMID:11519978 PMID:16199547 PMID:17187068 More... NCBI chr 2:175,434,242...175,437,926
Ensembl chr 2:175,434,238...175,437,714 		JBrowse link
G Hcn3 hyperpolarization-activated cyclic nucleotide-gated potassium channel 3 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 2:174,551,861...174,567,459
Ensembl chr 2:174,551,680...174,565,966 		JBrowse link
G Hdgf heparin binding growth factor ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 2:173,370,147...173,379,756
Ensembl chr 2:173,370,465...173,379,747 		JBrowse link
G Hormad1 HORMA domain containing 1 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 2:183,115,815...183,152,383
Ensembl chr 2:183,116,716...183,152,383 		JBrowse link
G Hrnr hornerin ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532
G Il6r interleukin 6 receptor ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:17187068 PMID:28492532 NCBI chr 2:175,289,157...175,347,719
Ensembl chr 2:175,298,686...175,347,536 		JBrowse link
G Ilf2 interleukin enhancer binding factor 2 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 2:175,952,174...175,971,191
Ensembl chr 2:175,952,186...175,971,337 		JBrowse link
G Insrr insulin receptor-related receptor ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 2:173,255,335...173,274,800
Ensembl chr 2:173,255,414...173,274,800 		JBrowse link
G Ints3 integrator complex subunit 3 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 2:175,859,421...175,911,683
Ensembl chr 2:175,859,440...175,911,709 		JBrowse link
G Iqgap3 IQ motif containing GTPase activating protein 3 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 2:173,542,151...173,583,956
Ensembl chr 2:173,542,110...173,583,956 		JBrowse link
G Isg20l2 interferon stimulated exonuclease gene 20-like 2 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 2:173,396,780...173,407,102
Ensembl chr 2:173,396,780...173,406,614 		JBrowse link
G Ivl involucrin ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 2:178,146,694...178,160,807
Ensembl chr 2:178,147,061...178,149,100 		JBrowse link
G Jtb jumping translocation breakpoint ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 2:175,685,392...175,689,609
Ensembl chr 2:175,684,993...175,690,108 		JBrowse link
G Kcnn3 potassium calcium-activated channel subfamily N member 3 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 2:174,929,846...175,088,910
Ensembl chr 2:174,936,629...175,081,145 		JBrowse link
G Khdc4 KH domain containing 4, pre-mRNA splicing factor ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 2:174,149,059...174,177,816
Ensembl chr 2:174,149,141...174,177,504 		JBrowse link
G Kplce KPRP N-terminal and LCE C-terminal like protein ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 2:178,481,482...178,483,434
Ensembl chr 2:178,481,373...178,483,424 		JBrowse link
G Kprp keratinocyte proline-rich protein ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 2:178,429,923...178,434,221
Ensembl chr 2:178,429,923...178,434,221 		JBrowse link
G Krtcap2 keratinocyte associated protein 2 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 2:174,654,409...174,658,405
Ensembl chr 2:174,654,219...174,658,405 		JBrowse link
G Lamtor2 late endosomal/lysosomal adaptor, MAPK and MTOR activator 2 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 2:174,008,556...174,011,950
Ensembl chr 2:174,008,548...174,013,013 		JBrowse link
G Lce1b late cornified envelope 1B ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 2:178,255,351...178,257,533
Ensembl chr 2:178,256,213...178,257,985 		JBrowse link
G Lce1e late cornified envelope 1E ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 2:178,462,100...178,463,433
Ensembl chr 2:178,462,100...178,463,433 		JBrowse link
G Lce1f late cornified envelope 1F ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 2:178,305,786...178,307,372
Ensembl chr 2:178,305,786...178,307,372 		JBrowse link
G Lce1m late cornified envelope 1M ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 2:178,637,495...178,638,697
Ensembl chr 2:178,637,495...178,638,697 		JBrowse link
G Lce3e late cornified envelope 3E ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 2:178,578,488...178,579,661
Ensembl chr 2:178,579,162...178,579,458 		JBrowse link
G Lce6a late cornified envelope 6A ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 2:178,194,148...178,195,234
Ensembl chr 2:178,194,318...178,194,563 		JBrowse link
G Lenep lens epithelial protein ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 2:174,819,439...174,820,127
Ensembl chr 2:174,819,459...174,820,127 		JBrowse link
G Lingo4 leucine rich repeat and Ig domain containing 4 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 2:182,035,522...182,040,787
Ensembl chr 2:182,014,326...182,040,787 		JBrowse link
G Lmna lamin A/C ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 2:173,939,751...173,960,423
Ensembl chr 2:173,939,751...173,960,423 		JBrowse link
G Loricrin loricrin cornified envelope precursor protein ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 2:177,558,062...177,560,960
Ensembl chr 2:177,558,252...177,559,807 		JBrowse link
G Lysmd1 LysM domain containing 1 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 2:182,704,921...182,714,466
Ensembl chr 2:182,704,916...182,710,412 		JBrowse link
G Mcl1 MCL1 apoptosis regulator, BCL2 family member ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 2:183,219,137...183,235,676
Ensembl chr 2:183,219,220...183,222,303 		JBrowse link
G Mef2d myocyte enhancer factor 2D ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 2:173,606,054...173,635,620
Ensembl chr 2:173,606,490...173,634,457 		JBrowse link
G Mettl25b methyltransferase like 25B ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 2:173,388,625...173,397,279
Ensembl chr 2:173,388,625...173,397,279 		JBrowse link
G Mex3a mex-3 RNA binding family member A ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 2:173,990,098...173,999,567
Ensembl chr 2:173,989,856...173,997,377 		JBrowse link
G Mindy1 MINDY lysine 48 deubiquitinase 1 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 2:182,859,977...182,873,000
Ensembl chr 2:182,860,472...182,873,015 		JBrowse link
G Mllt11 MLLT11, transcription factor 7 cofactor ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 2:182,795,790...182,804,960
Ensembl chr 2:182,795,790...182,797,199 		JBrowse link
G mrpl24 mitochondrial ribosomal protein L24 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 2:173,383,062...173,389,249
Ensembl chr 2:173,383,224...173,389,248 		JBrowse link
G mrpl9 mitochondrial ribosomal protein L9 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 2:182,082,012...182,086,758
Ensembl chr 2:182,076,369...182,087,095 		JBrowse link
G Mrps21 mitochondrial ribosomal protein S21 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 2:183,406,791...183,414,413
Ensembl chr 2:183,406,792...183,414,372 		JBrowse link
G Msto1 misato mitochondrial distribution and morphology regulator 1 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 2:174,305,945...174,310,230
Ensembl chr 2:174,301,861...174,310,216 		JBrowse link
G Mtmr11 myotubularin related protein 11 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 2:183,721,983...183,732,148
Ensembl chr 2:183,723,530...183,732,148 		JBrowse link
G Mtx1 Metaxin 1 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 2:174,615,460...174,621,383
Ensembl chr 2:174,615,461...174,620,982 		JBrowse link
G Muc1 mucin 1, cell surface associated ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 2:174,635,989...174,640,738
Ensembl chr 2:174,635,995...174,640,733 		JBrowse link
G Naxe NAD(P)HX epimerase ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 2:173,518,971...173,521,036
Ensembl chr 2:173,518,971...173,521,040 		JBrowse link
G Nes nestin ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 2:173,437,867...173,447,777
Ensembl chr 2:173,438,734...173,447,777 		JBrowse link
G Npr1 natriuretic peptide receptor 1 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 2:175,934,181...175,950,118
Ensembl chr 2:175,934,181...175,949,505 		JBrowse link
G Ns5atp4 NS5A transactivated protein 4 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:17187068 PMID:28492532 NCBI chr 2:175,494,406...175,507,281
Ensembl chr 2:175,494,304...175,510,663 		JBrowse link
G Ntrk1 neurotrophic receptor tyrosine kinase 1 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 2:173,236,961...173,253,806
Ensembl chr 2:173,236,963...173,253,770 		JBrowse link
G Nup210l nucleoporin 210-like ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:17187068 PMID:28492532 NCBI chr 2:175,545,999...175,665,332
Ensembl chr 2:175,547,988...175,665,332 		JBrowse link
G Oaz3 ornithine decarboxylase antizyme 3 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 2:182,073,212...182,076,147
Ensembl chr 2:182,073,215...182,082,399 		JBrowse link
G Otud7b OTU deubiquitinase 7B ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 2:183,661,955...183,722,584
Ensembl chr 2:183,662,163...183,718,674 		JBrowse link
G Paqr6 progestin and adipoQ receptor family member 6 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 2:173,832,241...173,838,443
Ensembl chr 2:173,833,880...173,838,456 		JBrowse link
G Pbxip1 PBX homeobox interacting protein 1 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 2:174,856,339...174,868,922
Ensembl chr 2:174,856,397...174,868,919 		JBrowse link
G Pglyrp3 peptidoglycan recognition protein 3 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 2:177,479,693...177,490,769
Ensembl chr 2:177,477,407...177,490,736
Ensembl chr 2:177,477,407...177,490,736 		JBrowse link
G Pglyrp4 peptidoglycan recognition protein 4 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 2:176,202,654...176,322,859
Ensembl chr 2:176,218,519...176,242,251 		JBrowse link
G Pi4kb phosphatidylinositol 4-kinase beta ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 2:182,540,377...182,572,684
Ensembl chr 2:182,540,567...182,588,488 		JBrowse link
G Pip5k1a phosphatidylinositol-4-phosphate 5-kinase, type 1, alpha ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 2:182,628,299...182,671,584
Ensembl chr 2:182,628,300...182,671,598 		JBrowse link
G Pklr pyruvate kinase L/R ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 2:174,543,008...174,551,863
Ensembl chr 2:174,543,039...174,551,870 		JBrowse link
G Plekho1 pleckstrin homology domain containing O1 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 2:183,544,487...183,552,928
Ensembl chr 2:183,544,499...183,552,785 		JBrowse link
G Pmf1 polyamine-modulated factor 1 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 2:173,848,074...173,868,272
Ensembl chr 2:173,848,074...173,868,270 		JBrowse link
G Pmvk phosphomevalonate kinase ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 2:174,876,586...174,886,365
Ensembl chr 2:174,876,657...174,886,364 		JBrowse link
G Pogz pogo transposable element derived with ZNF domain ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 2:182,394,269...182,440,711
Ensembl chr 2:182,380,768...182,440,707 		JBrowse link
G Prcc proline rich mitotic checkpoint control factor ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 2:173,326,261...173,351,799
Ensembl chr 2:173,326,259...173,351,825 		JBrowse link
G Prpf3 pre-mRNA processing factor 3 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 2:183,379,041...183,403,526
Ensembl chr 2:183,378,718...183,403,489 		JBrowse link
G Prr9 proline rich 9 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 2:177,599,483...177,600,849
Ensembl chr 2:177,599,483...177,600,849 		JBrowse link
G Prune1 prune exopolyphosphatase 1 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 2:182,830,575...182,859,972
Ensembl chr 2:182,830,578...182,859,336 		JBrowse link
G Psmb4 proteasome 20S subunit beta 4 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 2:182,442,757...182,445,532
Ensembl chr 2:182,442,756...182,445,746 		JBrowse link
G Psmd4 proteasome 26S subunit ubiquitin receptor, non-ATPase 4 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 2:182,598,934...182,608,250
Ensembl chr 2:182,598,934...182,608,194 		JBrowse link
G Pygo2 pygopus family PHD finger 2 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 2:174,849,670...174,854,758
Ensembl chr 2:174,849,936...174,854,758 		JBrowse link
G Rab13 RAB13, member RAS oncogene family ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 2:175,674,894...175,680,043
Ensembl chr 2:175,675,005...175,680,036 		JBrowse link
G Rab25 RAB25, member RAS oncogene family ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 2:174,000,323...174,006,422
Ensembl chr 2:174,000,323...174,006,422 		JBrowse link
G Rfx5 regulatory factor X5 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 2:182,521,191...182,528,720
Ensembl chr 2:182,521,202...182,528,717 		JBrowse link
G Rhbg Rh family B glycoprotein ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 2:173,704,852...173,717,380
Ensembl chr 2:173,704,562...173,717,321 		JBrowse link
G Riiad1 regulatory subunit of type II PKA R-subunit domain containing 1 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 2:182,099,924...182,110,544
Ensembl chr 2:182,101,795...182,110,319 		JBrowse link
G Rit1 Ras-like without CAAX 1 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 2:174,180,742...174,195,455
Ensembl chr 2:174,180,848...174,195,455 		JBrowse link
G Rorc RAR-related orphan receptor C ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 2:182,009,707...182,034,910
Ensembl chr 2:182,009,286...182,034,907 		JBrowse link
G Rprd2 regulation of nuclear pre-mRNA domain containing 2 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 2:183,311,132...183,367,959
Ensembl chr 2:183,293,114...183,367,407 		JBrowse link
G Rps27 ribosomal protein S27 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:17187068 PMID:28492532 NCBI chr 2:175,665,858...175,666,963
Ensembl chr 2:175,665,853...175,666,964 		JBrowse link
G Rptn repetin ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 2:179,061,768...179,066,056
Ensembl chr 2:179,060,017...179,065,910 		JBrowse link
G Rusc1 RUN and SH3 domain containing 1 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 2:174,487,921...174,497,266
Ensembl chr 2:174,486,665...174,507,776 		JBrowse link
G Rxfp4 relaxin family peptide/INSL5 receptor 4 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 2:174,123,510...174,124,664 JBrowse link
G S100a1 S100 calcium binding protein A1 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 2:175,993,922...175,998,765
Ensembl chr 2:175,993,922...175,999,544 		JBrowse link
G S100a10 S100 calcium binding protein A10 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 2:179,221,012...179,229,659
Ensembl chr 2:179,220,887...179,229,661 		JBrowse link
G S100a11 S100 calcium binding protein A11 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 2:179,191,688...179,197,098
Ensembl chr 2:179,191,715...179,197,044 		JBrowse link
G S100a13 S100 calcium binding protein A13 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 2:175,999,439...176,005,933 JBrowse link
G S100a14 S100 calcium binding protein A14 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 2:176,008,395...176,010,423
Ensembl chr 2:176,008,395...176,010,423 		JBrowse link
G S100a16 S100 calcium binding protein A16 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 2:176,016,405...176,022,117
Ensembl chr 2:176,016,268...176,022,117 		JBrowse link
G S100a2 S100 calcium binding protein A2 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 2:176,077,081...176,078,325 JBrowse link
G S100a3 S100 calcium binding protein A3 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 2:176,034,283...176,089,702
Ensembl chr 2:176,049,520...176,089,702 		JBrowse link
G S100a4 S100 calcium-binding protein A4 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 2:176,090,951...176,093,258
Ensembl chr 2:176,091,804...176,093,254 		JBrowse link
G S100a5 S100 calcium binding protein A5 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 2:176,095,332...176,099,546
Ensembl chr 2:176,097,539...176,099,546 		JBrowse link
G S100a6 S100 calcium binding protein A6 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 2:176,100,619...176,102,181
Ensembl chr 2:176,100,899...176,102,180 		JBrowse link
G S100a7a S100 calcium binding protein A7A ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 2:176,151,405...176,155,846
Ensembl chr 2:176,151,288...176,156,441 		JBrowse link
G S100a8 S100 calcium binding protein A8 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 2:176,166,517...176,167,645
Ensembl chr 2:176,167,124...176,167,643 		JBrowse link
G S100a9 S100 calcium binding protein A9 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 2:176,190,361...176,193,182
Ensembl chr 2:176,190,361...176,193,230 		JBrowse link
G Scamp3 secretory carrier membrane protein 3 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 2:174,583,124...174,588,984
Ensembl chr 2:174,570,653...174,588,985 		JBrowse link
G Selenbp1 selenium binding protein 1 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 2:182,494,004...182,504,594
Ensembl chr 2:182,493,978...182,504,594 		JBrowse link
G Sema4a semaphorin 4A ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 2:173,896,432...173,917,903
Ensembl chr 2:173,896,439...173,914,442 		JBrowse link
G Sema6c semaphorin 6C ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 2:182,733,635...182,750,066
Ensembl chr 2:182,737,474...182,746,856 		JBrowse link
G Setdb1 SET domain bifurcated histone lysine methyltransferase 1 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 2:182,898,738...182,930,283
Ensembl chr 2:182,898,738...182,930,506 		JBrowse link
G Sf3b4 splicing factor 3B subunit 4 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 2:183,732,791...183,737,545
Ensembl chr 2:183,732,754...183,737,959 		JBrowse link
G Sh2d2a SH2 domain containing 2A ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 2:173,312,253...173,318,810
Ensembl chr 2:173,312,253...173,318,810 		JBrowse link
G Shc1 SHC adaptor protein 1 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 2:174,837,937...174,849,538
Ensembl chr 2:174,837,930...174,849,536 		JBrowse link
G She Src homology 2 domain containing E ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:17187068 PMID:28492532 NCBI chr 2:175,262,431...175,287,807
Ensembl chr 2:175,262,442...175,286,669 		JBrowse link
G Slc25a44 solute carrier family 25, member 44 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 2:173,868,317...173,883,137
Ensembl chr 2:173,868,320...173,883,020 		JBrowse link
G Slc27a3 solute carrier family 27 member 3 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 2:175,853,241...175,857,909
Ensembl chr 2:175,853,241...175,857,909 		JBrowse link
G Slc39a1 solute carrier family 39 member 1 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 2:175,703,413...175,709,063
Ensembl chr 2:175,703,441...175,709,058 		JBrowse link
G Slc50a1 solute carrier family 50 member 1 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 2:174,677,985...174,680,366
Ensembl chr 2:174,677,708...174,680,366 		JBrowse link
G Smcp sperm mitochondria-associated cysteine-rich protein ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 2:178,160,948...178,165,951
Ensembl chr 2:178,160,127...178,166,001 		JBrowse link
G Smg5 SMG5 nonsense mediated mRNA decay factor ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 2:173,804,987...173,832,102
Ensembl chr 2:173,805,019...173,832,102 		JBrowse link
G Snapin SNAP-associated protein ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 2:175,971,575...175,974,164
Ensembl chr 2:175,971,257...175,974,231 		JBrowse link
G Snx27 sorting nexin 27 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 2:182,135,904...182,218,906
Ensembl chr 2:182,135,905...182,218,906 		JBrowse link
G Sprr1a small proline-rich protein 1A ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 2:178,055,096...178,057,012
Ensembl chr 2:178,055,096...178,057,063 		JBrowse link
G Sprr1b small proline-rich protein 1B ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 2:178,008,844...178,010,742
Ensembl chr 2:178,009,130...178,009,567 		JBrowse link
G Sprr2a small proline rich protein 2A ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 2:177,815,964...177,816,236
Ensembl chr 2:177,815,964...177,816,236 		JBrowse link
G Sprr2a2 small proline-rich protein 2A2 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 2:177,719,576...177,719,845
Ensembl chr 2:177,719,576...177,719,845 		JBrowse link
G Sprr2b small proline rich protein 2B ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 2:177,852,824...177,853,096
Ensembl chr 2:177,852,824...177,853,096 		JBrowse link
G Sprr2d small proline-rich protein 2D ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 2:177,870,082...177,870,679
Ensembl chr 2:177,870,434...177,870,679 		JBrowse link
G Sprr2f small proline rich protein 2F ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 2:177,989,974...177,990,204
Ensembl chr 2:177,989,974...177,990,204 		JBrowse link
G Sprr3 small proline-rich protein 3 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 2:178,027,743...178,028,501
Ensembl chr 2:178,027,425...178,029,891 		JBrowse link
G Sprr4 small proline-rich protein 4 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 2:178,082,466...178,083,125
Ensembl chr 2:178,082,871...178,083,104 		JBrowse link
G Ssr2 signal sequence receptor subunit 2 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 2:174,048,291...174,057,043
Ensembl chr 2:174,048,460...174,057,042 		JBrowse link
G Syt11 synaptotagmin 11 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 2:174,206,032...174,232,540
Ensembl chr 2:174,206,191...174,231,964 		JBrowse link
G Tars2 threonyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 2:183,293,095...183,310,210
Ensembl chr 2:183,293,097...183,310,184 		JBrowse link
G Tchh trichohyalin ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 2:179,103,660...179,112,014
Ensembl chr 2:179,109,609...179,110,985
Ensembl chr 2:179,109,609...179,110,985 		JBrowse link
G Tchhl1 trichohyalin-like 1 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 2:179,134,941...179,138,467
Ensembl chr 2:179,135,796...179,138,202 		JBrowse link
G Tdrkh tudor and KH domain containing ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 2:182,049,175...182,071,516
Ensembl chr 2:182,049,215...182,070,755 		JBrowse link
G Thbs3 thrombospondin 3 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 2:174,621,788...174,633,594
Ensembl chr 2:174,621,812...174,633,594 		JBrowse link
G Them4 thioesterase superfamily member 4 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 2:181,953,550...181,974,708
Ensembl chr 2:181,953,550...181,974,708 		JBrowse link
G Them5 thioesterase superfamily member 5 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 2:181,980,783...181,986,002
Ensembl chr 2:181,980,783...181,986,002 		JBrowse link
G Tmem79 transmembrane protein 79 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 2:173,798,267...173,803,151
Ensembl chr 2:173,798,267...173,803,046 		JBrowse link
G Tmod4 tropomodulin 4 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 2:182,695,709...182,700,540
Ensembl chr 2:182,695,709...182,700,540 		JBrowse link
G Tnfaip8l2 TNF alpha induced protein 8 like 2 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 2:182,710,433...182,726,724
Ensembl chr 2:182,709,378...182,726,760 		JBrowse link
G Tpm3 tropomyosin 3 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:17187068 PMID:28492532 NCBI chr 2:175,517,198...175,545,014
Ensembl chr 2:175,517,226...175,545,013 		JBrowse link
G Trim46 tripartite motif-containing 46 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 2:174,641,494...174,654,237
Ensembl chr 2:174,641,496...174,654,141 		JBrowse link
G Tsacc TSSK6 activating co-chaperone ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 2:173,755,841...173,765,564
Ensembl chr 2:173,753,786...173,765,404 		JBrowse link
G Ttc24 tetratricopeptide repeat domain 24 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 2:173,525,204...173,533,182
Ensembl chr 2:173,524,600...173,533,107 		JBrowse link
G Tuft1 tuftelin 1 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 2:182,259,457...182,306,296
Ensembl chr 2:182,260,398...182,306,192 		JBrowse link
G Ubap2l ubiquitin associated protein 2-like ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:17187068 PMID:28492532 NCBI chr 2:175,438,703...175,494,085
Ensembl chr 2:175,438,703...175,493,998 		JBrowse link
G Ube2q1 ubiquitin conjugating enzyme E2 Q1 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:17187068 PMID:28492532 NCBI chr 2:175,198,793...175,209,152
Ensembl chr 2:175,198,873...175,207,942 		JBrowse link
G Ubqln4 ubiquilin 4 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 2:174,012,726...174,028,062
Ensembl chr 2:174,012,777...174,028,059 		JBrowse link
G Vps45 vacuolar protein sorting 45 homolog ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Kostmann syndrome		 CTD
ClinVar		 PMID:23599270 PMID:28492532 NCBI chr 2:183,555,919...183,616,312
Ensembl chr 2:183,555,921...183,616,295 		JBrowse link
G Vps72 vacuolar protein sorting 72 homolog ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 2:182,678,594...182,690,185
Ensembl chr 2:182,678,609...182,690,182 		JBrowse link
G Zbtb7b zinc finger and BTB domain containing 7B ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 2:174,795,831...174,811,980
Ensembl chr 2:174,797,453...174,814,236 		JBrowse link
G Zfp687 zinc finger protein 687 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 2:182,572,893...182,581,641
Ensembl chr 2:182,572,662...182,583,647 		JBrowse link
severe congenital neutropenia 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G G6pc3 glucose 6 phosphatase catalytic subunit 3 ISO ClinVar Annotator: match by term: Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency | ClinVar Annotator: match by term: G6PC3-related condition
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:19011569 PMID:19118303 More... NCBI chr10:87,146,987...87,151,223
Ensembl chr10:87,146,901...87,151,221 		JBrowse link
severe congenital neutropenia 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adam15 ADAM metallopeptidase domain 15 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:174,754,629...174,765,136
Ensembl chr 2:174,754,633...174,765,113 		JBrowse link
G Adamtsl4 ADAMTS-like 4 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:183,235,634...183,247,091
Ensembl chr 2:183,235,646...183,246,848 		JBrowse link
G Adar adenosine deaminase, RNA-specific ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:175,138,391...175,178,280
Ensembl chr 2:175,138,403...175,178,282 		JBrowse link
G Anp32e acidic nuclear phosphoprotein 32 family member E ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:183,472,600...183,489,057
Ensembl chr 2:183,472,609...183,489,054 		JBrowse link
G Anxa9 annexin A9 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:182,873,185...182,884,501
Ensembl chr 2:182,872,929...182,883,374 		JBrowse link
G Aph1a aph-1 homolog A, gamma secretase subunit ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:183,437,676...183,443,113
Ensembl chr 2:183,438,434...183,441,955 		JBrowse link
G Aqp10 aquaporin 10 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:175,402,609...175,407,677
Ensembl chr 2:175,403,263...175,406,815 		JBrowse link
G Arhgef2 Rho/Rac guanine nucleotide exchange factor 2 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:174,061,126...174,118,355
Ensembl chr 2:174,062,976...174,118,355 		JBrowse link
G Arnt aryl hydrocarbon receptor nuclear translocator ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:182,997,731...183,056,584
Ensembl chr 2:182,997,736...183,056,580 		JBrowse link
G Ash1l ASH1 like histone lysine methyltransferase ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:174,346,267...174,483,057
Ensembl chr 2:174,346,150...174,483,055 		JBrowse link
G Atp8b2 ATPase phospholipid transporting 8B2 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:175,378,514...175,402,265
Ensembl chr 2:175,378,517...175,401,883 		JBrowse link
G Bcan brevican ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:173,454,479...173,467,717
Ensembl chr 2:173,454,482...173,467,460 		JBrowse link
G Bglap bone gamma-carboxyglutamate protein ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:173,838,518...173,839,495
Ensembl chr 2:173,838,518...173,839,495 		JBrowse link
G Bnipl BCL2 interacting protein like ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:182,818,593...182,830,421
Ensembl chr 2:182,818,595...182,828,588 		JBrowse link
G C2cd4d C2 calcium-dependent domain containing 4D ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:181,999,778...182,001,941
Ensembl chr 2:181,997,078...182,002,087 		JBrowse link
G C2h1orf54 similar to human chromosome 1 open reading frame 54 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:183,424,989...183,434,713
Ensembl chr 2:183,424,984...183,435,089 		JBrowse link
G C2h1orf56 similar to human chromosome 1 open reading frame 56 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:182,814,794...182,818,387
Ensembl chr 2:182,814,793...182,818,512 		JBrowse link
G Car14 carbonic anhydrase 14 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:183,442,263...183,449,231
Ensembl chr 2:183,441,667...183,449,693 		JBrowse link
G Cct3 chaperonin containing TCP1 subunit 3 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:173,765,701...173,790,353
Ensembl chr 2:173,765,698...173,790,757 		JBrowse link
G Cdc42se1 CDC42 small effector 1 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:182,805,691...182,813,520
Ensembl chr 2:182,804,925...182,814,028 		JBrowse link
G Celf3 CUGBP, Elav-like family member 3 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:182,116,034...182,130,163
Ensembl chr 2:182,116,073...182,130,163 		JBrowse link
G Cers2 ceramide synthase 2 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:182,890,527...182,898,805
Ensembl chr 2:182,890,493...182,933,314 		JBrowse link
G Cfap141 cilia and flagella associated protein 141 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:175,507,628...175,510,662
Ensembl chr 2:175,507,628...175,510,662 		JBrowse link
G Cgn cingulin ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:182,308,389...182,335,747
Ensembl chr 2:182,308,714...182,334,645 		JBrowse link
G Chrnb2 cholinergic receptor nicotinic beta 2 subunit ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:175,181,402...175,189,619
Ensembl chr 2:175,181,402...175,189,619 		JBrowse link
G Chtop chromatin target of PRMT1 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:175,981,266...175,992,820
Ensembl chr 2:175,981,271...175,992,748 		JBrowse link
G Ciart circadian associated repressor of transcription ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:183,419,819...183,424,845
Ensembl chr 2:183,419,819...183,423,313 		JBrowse link
G Cks1b CDC28 protein kinase regulatory subunit 1B ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:174,833,025...174,837,614
Ensembl chr 2:174,833,050...174,837,636 		JBrowse link
G Clk2 CDC-like kinase 2 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:174,570,614...174,582,645
Ensembl chr 2:174,570,653...174,588,985 		JBrowse link
G Crabp2 cellular retinoic acid binding protein 2 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:173,417,004...173,421,352
Ensembl chr 2:173,416,857...173,421,379 		JBrowse link
G Crct1 cysteine-rich C-terminal 1 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:178,633,789...178,635,274
Ensembl chr 2:178,634,092...178,634,394 		JBrowse link
G Creb3l4 cAMP responsive element binding protein 3-like 4 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:175,690,340...175,695,846
Ensembl chr 2:175,690,335...175,695,932 		JBrowse link
G Crnn cornulin ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:178,733,329...178,736,404
Ensembl chr 2:178,731,796...178,736,216 		JBrowse link
G Crtc2 CREB regulated transcription coactivator 2 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:175,709,603...175,719,768
Ensembl chr 2:175,709,644...175,719,763 		JBrowse link
G Ctsk cathepsin K ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:183,058,586...183,069,551
Ensembl chr 2:183,058,569...183,069,550 		JBrowse link
G Ctss cathepsin S ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:183,086,437...183,114,483
Ensembl chr 2:183,086,437...183,114,483 		JBrowse link
G Dap3 death associated protein 3 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:174,319,341...174,347,489
Ensembl chr 2:174,318,983...174,346,461 		JBrowse link
G Dcst1 DC-STAMP domain containing 1 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:174,765,203...174,784,023
Ensembl chr 2:174,765,350...174,781,806 		JBrowse link
G Dcst2 DC-STAMP domain containing 2 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:174,781,806...174,795,834
Ensembl chr 2:174,781,902...174,795,832 		JBrowse link
G Dennd4b DENN domain containing 4B ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:175,720,473...175,736,425
Ensembl chr 2:175,709,610...175,736,426 		JBrowse link
G Dpm3 dolichyl-phosphate mannosyltransferase subunit 3, regulatory ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:174,676,532...174,677,047
Ensembl chr 2:174,676,363...174,677,668
Ensembl chr15:174,676,363...174,677,668 		JBrowse link
G Ecm1 extracellular matrix protein 1 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:183,287,491...183,292,729
Ensembl chr 2:183,287,322...183,292,671 		JBrowse link
G Efna1 ephrin A1 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:174,681,676...174,689,061
Ensembl chr 2:174,681,682...174,690,866 		JBrowse link
G Efna3 ephrin A3 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:174,729,192...174,738,111
Ensembl chr 2:174,729,764...174,738,736 		JBrowse link
G Efna4 ephrin A4 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:174,748,729...174,752,979
Ensembl chr 2:174,748,724...174,752,979 		JBrowse link
G Ensa endosulfine alpha ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:183,185,552...183,192,888
Ensembl chr 2:183,185,552...183,194,847 		JBrowse link
G Entrep3 endosomal transmembrane epsin interactor 3 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:174,588,984...174,595,281
Ensembl chr 2:174,589,337...174,595,281 		JBrowse link
G Fdps farnesyl diphosphate synthase ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:174,497,402...174,507,031
Ensembl chr 2:174,486,665...174,507,776 		JBrowse link
G Flad1 flavin adenine dinucleotide synthetase 1 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:174,819,451...174,828,921
Ensembl chr 2:174,819,453...174,828,977 		JBrowse link
G Flg filaggrin ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:178,884,793...178,912,986 JBrowse link
G Flg2 filaggrin 2 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:178,789,792...178,802,232 JBrowse link
G Gabpb2 GA binding protein transcription factor subunit beta 2 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:182,755,304...182,795,368
Ensembl chr 2:182,761,359...182,795,109 		JBrowse link
G Gatad2b GATA zinc finger domain containing 2B ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:175,748,594...175,829,837
Ensembl chr 2:175,749,433...175,825,542 		JBrowse link
G Gba1 glucosylceramidase beta 1 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:174,609,437...174,615,457
Ensembl chr 2:174,609,403...174,618,263 		JBrowse link
G Glmp glycosylated lysosomal membrane protein ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:173,794,273...173,797,863
Ensembl chr 2:173,794,255...173,799,960 		JBrowse link
G Golph3l golgi phosphoprotein 3-like ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:183,151,941...183,183,094
Ensembl chr 2:183,153,301...183,183,083 		JBrowse link
G Gon4l gon-4 like ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:174,233,461...174,306,636
Ensembl chr 2:174,233,461...174,306,634 		JBrowse link
G Gpatch4 G patch domain containing 4 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:173,499,700...173,520,346
Ensembl chr 2:173,509,897...173,518,684 		JBrowse link
G Hapln2 hyaluronan and proteoglycan link protein 2 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:173,488,909...173,496,824
Ensembl chr 2:173,491,160...173,496,588 		JBrowse link
G Hax1 HCLS1 associated protein X-1 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:175,434,242...175,437,926
Ensembl chr 2:175,434,238...175,437,714 		JBrowse link
G Hcn3 hyperpolarization-activated cyclic nucleotide-gated potassium channel 3 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:174,551,861...174,567,459
Ensembl chr 2:174,551,680...174,565,966 		JBrowse link
G Hdgf heparin binding growth factor ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:173,370,147...173,379,756
Ensembl chr 2:173,370,465...173,379,747 		JBrowse link
G Hormad1 HORMA domain containing 1 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:183,115,815...183,152,383
Ensembl chr 2:183,116,716...183,152,383 		JBrowse link
G Hrnr hornerin ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532
G Il6r interleukin 6 receptor ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:175,289,157...175,347,719
Ensembl chr 2:175,298,686...175,347,536 		JBrowse link
G Ilf2 interleukin enhancer binding factor 2 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:175,952,174...175,971,191
Ensembl chr 2:175,952,186...175,971,337 		JBrowse link
G Insrr insulin receptor-related receptor ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:173,255,335...173,274,800
Ensembl chr 2:173,255,414...173,274,800 		JBrowse link
G Ints3 integrator complex subunit 3 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:175,859,421...175,911,683
Ensembl chr 2:175,859,440...175,911,709 		JBrowse link
G Iqgap3 IQ motif containing GTPase activating protein 3 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:173,542,151...173,583,956
Ensembl chr 2:173,542,110...173,583,956 		JBrowse link
G Isg20l2 interferon stimulated exonuclease gene 20-like 2 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:173,396,780...173,407,102
Ensembl chr 2:173,396,780...173,406,614 		JBrowse link
G Ivl involucrin ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:178,146,694...178,160,807
Ensembl chr 2:178,147,061...178,149,100 		JBrowse link
G Jtb jumping translocation breakpoint ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:175,685,392...175,689,609
Ensembl chr 2:175,684,993...175,690,108 		JBrowse link
G Kcnn3 potassium calcium-activated channel subfamily N member 3 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:174,929,846...175,088,910
Ensembl chr 2:174,936,629...175,081,145 		JBrowse link
G Khdc4 KH domain containing 4, pre-mRNA splicing factor ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:174,149,059...174,177,816
Ensembl chr 2:174,149,141...174,177,504 		JBrowse link
G Kplce KPRP N-terminal and LCE C-terminal like protein ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:178,481,482...178,483,434
Ensembl chr 2:178,481,373...178,483,424 		JBrowse link
G Kprp keratinocyte proline-rich protein ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:178,429,923...178,434,221
Ensembl chr 2:178,429,923...178,434,221 		JBrowse link
G Krtcap2 keratinocyte associated protein 2 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:174,654,409...174,658,405
Ensembl chr 2:174,654,219...174,658,405 		JBrowse link
G Lamtor2 late endosomal/lysosomal adaptor, MAPK and MTOR activator 2 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:174,008,556...174,011,950
Ensembl chr 2:174,008,548...174,013,013 		JBrowse link
G Lce1b late cornified envelope 1B ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:178,255,351...178,257,533
Ensembl chr 2:178,256,213...178,257,985 		JBrowse link
G Lce1e late cornified envelope 1E ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:178,462,100...178,463,433
Ensembl chr 2:178,462,100...178,463,433 		JBrowse link
G Lce1f late cornified envelope 1F ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:178,305,786...178,307,372
Ensembl chr 2:178,305,786...178,307,372 		JBrowse link
G Lce1m late cornified envelope 1M ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:178,637,495...178,638,697
Ensembl chr 2:178,637,495...178,638,697 		JBrowse link
G Lce3e late cornified envelope 3E ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:178,578,488...178,579,661
Ensembl chr 2:178,579,162...178,579,458 		JBrowse link
G Lce6a late cornified envelope 6A ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:178,194,148...178,195,234
Ensembl chr 2:178,194,318...178,194,563 		JBrowse link
G Lenep lens epithelial protein ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:174,819,439...174,820,127
Ensembl chr 2:174,819,459...174,820,127 		JBrowse link
G Lingo4 leucine rich repeat and Ig domain containing 4 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:182,035,522...182,040,787
Ensembl chr 2:182,014,326...182,040,787 		JBrowse link
G Lmna lamin A/C ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:173,939,751...173,960,423
Ensembl chr 2:173,939,751...173,960,423 		JBrowse link
G Loricrin loricrin cornified envelope precursor protein ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:177,558,062...177,560,960
Ensembl chr 2:177,558,252...177,559,807 		JBrowse link
G Lysmd1 LysM domain containing 1 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:182,704,921...182,714,466
Ensembl chr 2:182,704,916...182,710,412 		JBrowse link
G Mcl1 MCL1 apoptosis regulator, BCL2 family member ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:183,219,137...183,235,676
Ensembl chr 2:183,219,220...183,222,303 		JBrowse link
G Mef2d myocyte enhancer factor 2D ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:173,606,054...173,635,620
Ensembl chr 2:173,606,490...173,634,457 		JBrowse link
G Mettl25b methyltransferase like 25B ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:173,388,625...173,397,279
Ensembl chr 2:173,388,625...173,397,279 		JBrowse link
G Mex3a mex-3 RNA binding family member A ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:173,990,098...173,999,567
Ensembl chr 2:173,989,856...173,997,377 		JBrowse link
G Mindy1 MINDY lysine 48 deubiquitinase 1 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:182,859,977...182,873,000
Ensembl chr 2:182,860,472...182,873,015 		JBrowse link
G Mllt11 MLLT11, transcription factor 7 cofactor ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:182,795,790...182,804,960
Ensembl chr 2:182,795,790...182,797,199 		JBrowse link
G mrpl24 mitochondrial ribosomal protein L24 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:173,383,062...173,389,249
Ensembl chr 2:173,383,224...173,389,248 		JBrowse link
G mrpl9 mitochondrial ribosomal protein L9 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:182,082,012...182,086,758
Ensembl chr 2:182,076,369...182,087,095 		JBrowse link
G Mrps21 mitochondrial ribosomal protein S21 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:183,406,791...183,414,413
Ensembl chr 2:183,406,792...183,414,372 		JBrowse link
G Msto1 misato mitochondrial distribution and morphology regulator 1 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:174,305,945...174,310,230
Ensembl chr 2:174,301,861...174,310,216 		JBrowse link
G Mtmr11 myotubularin related protein 11 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:183,721,983...183,732,148
Ensembl chr 2:183,723,530...183,732,148 		JBrowse link
G Mtx1 Metaxin 1 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:174,615,460...174,621,383
Ensembl chr 2:174,615,461...174,620,982 		JBrowse link
G Muc1 mucin 1, cell surface associated ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:174,635,989...174,640,738
Ensembl chr 2:174,635,995...174,640,733 		JBrowse link
G Naxe NAD(P)HX epimerase ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:173,518,971...173,521,036
Ensembl chr 2:173,518,971...173,521,040 		JBrowse link
G Nes nestin ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:173,437,867...173,447,777
Ensembl chr 2:173,438,734...173,447,777 		JBrowse link
G Npr1 natriuretic peptide receptor 1 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:175,934,181...175,950,118
Ensembl chr 2:175,934,181...175,949,505 		JBrowse link
G Ns5atp4 NS5A transactivated protein 4 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:175,494,406...175,507,281
Ensembl chr 2:175,494,304...175,510,663 		JBrowse link
G Ntrk1 neurotrophic receptor tyrosine kinase 1 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:173,236,961...173,253,806
Ensembl chr 2:173,236,963...173,253,770 		JBrowse link
G Nup210l nucleoporin 210-like ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:175,545,999...175,665,332
Ensembl chr 2:175,547,988...175,665,332 		JBrowse link
G Oaz3 ornithine decarboxylase antizyme 3 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:182,073,212...182,076,147
Ensembl chr 2:182,073,215...182,082,399 		JBrowse link
G Otud7b OTU deubiquitinase 7B ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:183,661,955...183,722,584
Ensembl chr 2:183,662,163...183,718,674 		JBrowse link
G Paqr6 progestin and adipoQ receptor family member 6 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:173,832,241...173,838,443
Ensembl chr 2:173,833,880...173,838,456 		JBrowse link
G Pbxip1 PBX homeobox interacting protein 1 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:174,856,339...174,868,922
Ensembl chr 2:174,856,397...174,868,919 		JBrowse link
G Pglyrp3 peptidoglycan recognition protein 3 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:177,479,693...177,490,769
Ensembl chr 2:177,477,407...177,490,736
Ensembl chr 2:177,477,407...177,490,736 		JBrowse link
G Pglyrp4 peptidoglycan recognition protein 4 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:176,202,654...176,322,859
Ensembl chr 2:176,218,519...176,242,251 		JBrowse link
G Pi4kb phosphatidylinositol 4-kinase beta ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:182,540,377...182,572,684
Ensembl chr 2:182,540,567...182,588,488 		JBrowse link
G Pip5k1a phosphatidylinositol-4-phosphate 5-kinase, type 1, alpha ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:182,628,299...182,671,584
Ensembl chr 2:182,628,300...182,671,598 		JBrowse link
G Pklr pyruvate kinase L/R ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:174,543,008...174,551,863
Ensembl chr 2:174,543,039...174,551,870 		JBrowse link
G Plekho1 pleckstrin homology domain containing O1 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:183,544,487...183,552,928
Ensembl chr 2:183,544,499...183,552,785 		JBrowse link
G Pmf1 polyamine-modulated factor 1 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:173,848,074...173,868,272
Ensembl chr 2:173,848,074...173,868,270 		JBrowse link
G Pmvk phosphomevalonate kinase ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:174,876,586...174,886,365
Ensembl chr 2:174,876,657...174,886,364 		JBrowse link
G Pogz pogo transposable element derived with ZNF domain ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:182,394,269...182,440,711
Ensembl chr 2:182,380,768...182,440,707 		JBrowse link
G Prcc proline rich mitotic checkpoint control factor ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:173,326,261...173,351,799
Ensembl chr 2:173,326,259...173,351,825 		JBrowse link
G Prpf3 pre-mRNA processing factor 3 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:183,379,041...183,403,526
Ensembl chr 2:183,378,718...183,403,489 		JBrowse link
G Prr9 proline rich 9 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:177,599,483...177,600,849
Ensembl chr 2:177,599,483...177,600,849 		JBrowse link
G Prune1 prune exopolyphosphatase 1 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:182,830,575...182,859,972
Ensembl chr 2:182,830,578...182,859,336 		JBrowse link
G Psmb4 proteasome 20S subunit beta 4 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:182,442,757...182,445,532
Ensembl chr 2:182,442,756...182,445,746 		JBrowse link
G Psmd4 proteasome 26S subunit ubiquitin receptor, non-ATPase 4 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:182,598,934...182,608,250
Ensembl chr 2:182,598,934...182,608,194 		JBrowse link
G Pygo2 pygopus family PHD finger 2 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:174,849,670...174,854,758
Ensembl chr 2:174,849,936...174,854,758 		JBrowse link
G Rab13 RAB13, member RAS oncogene family ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:175,674,894...175,680,043
Ensembl chr 2:175,675,005...175,680,036 		JBrowse link
G Rab25 RAB25, member RAS oncogene family ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:174,000,323...174,006,422
Ensembl chr 2:174,000,323...174,006,422 		JBrowse link
G Rfx5 regulatory factor X5 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:182,521,191...182,528,720
Ensembl chr 2:182,521,202...182,528,717 		JBrowse link
G Rhbg Rh family B glycoprotein ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:173,704,852...173,717,380
Ensembl chr 2:173,704,562...173,717,321 		JBrowse link
G Riiad1 regulatory subunit of type II PKA R-subunit domain containing 1 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:182,099,924...182,110,544
Ensembl chr 2:182,101,795...182,110,319 		JBrowse link
G Rit1 Ras-like without CAAX 1 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:174,180,742...174,195,455
Ensembl chr 2:174,180,848...174,195,455 		JBrowse link
G Rorc RAR-related orphan receptor C ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:182,009,707...182,034,910
Ensembl chr 2:182,009,286...182,034,907 		JBrowse link
G Rprd2 regulation of nuclear pre-mRNA domain containing 2 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:183,311,132...183,367,959
Ensembl chr 2:183,293,114...183,367,407 		JBrowse link
G Rps27 ribosomal protein S27 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:175,665,858...175,666,963
Ensembl chr 2:175,665,853...175,666,964 		JBrowse link
G Rptn repetin ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:179,061,768...179,066,056
Ensembl chr 2:179,060,017...179,065,910 		JBrowse link
G Rusc1 RUN and SH3 domain containing 1 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:174,487,921...174,497,266
Ensembl chr 2:174,486,665...174,507,776 		JBrowse link
G Rxfp4 relaxin family peptide/INSL5 receptor 4 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:174,123,510...174,124,664 JBrowse link
G S100a1 S100 calcium binding protein A1 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:175,993,922...175,998,765
Ensembl chr 2:175,993,922...175,999,544 		JBrowse link
G S100a10 S100 calcium binding protein A10 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:179,221,012...179,229,659
Ensembl chr 2:179,220,887...179,229,661 		JBrowse link
G S100a11 S100 calcium binding protein A11 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:179,191,688...179,197,098
Ensembl chr 2:179,191,715...179,197,044 		JBrowse link
G S100a13 S100 calcium binding protein A13 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:175,999,439...176,005,933 JBrowse link
G S100a14 S100 calcium binding protein A14 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:176,008,395...176,010,423
Ensembl chr 2:176,008,395...176,010,423 		JBrowse link
G S100a16 S100 calcium binding protein A16 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:176,016,405...176,022,117
Ensembl chr 2:176,016,268...176,022,117 		JBrowse link
G S100a2 S100 calcium binding protein A2 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:176,077,081...176,078,325 JBrowse link
G S100a3 S100 calcium binding protein A3 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:176,034,283...176,089,702
Ensembl chr 2:176,049,520...176,089,702 		JBrowse link
G S100a4 S100 calcium-binding protein A4 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:176,090,951...176,093,258
Ensembl chr 2:176,091,804...176,093,254 		JBrowse link
G S100a5 S100 calcium binding protein A5 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:176,095,332...176,099,546
Ensembl chr 2:176,097,539...176,099,546 		JBrowse link
G S100a6 S100 calcium binding protein A6 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:176,100,619...176,102,181
Ensembl chr 2:176,100,899...176,102,180 		JBrowse link
G S100a7a S100 calcium binding protein A7A ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:176,151,405...176,155,846
Ensembl chr 2:176,151,288...176,156,441 		JBrowse link
G S100a8 S100 calcium binding protein A8 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:176,166,517...176,167,645
Ensembl chr 2:176,167,124...176,167,643 		JBrowse link
G S100a9 S100 calcium binding protein A9 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:176,190,361...176,193,182
Ensembl chr 2:176,190,361...176,193,230 		JBrowse link
G Scamp3 secretory carrier membrane protein 3 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:174,583,124...174,588,984
Ensembl chr 2:174,570,653...174,588,985 		JBrowse link
G Selenbp1 selenium binding protein 1 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:182,494,004...182,504,594
Ensembl chr 2:182,493,978...182,504,594 		JBrowse link
G Sema4a semaphorin 4A ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:173,896,432...173,917,903
Ensembl chr 2:173,896,439...173,914,442 		JBrowse link
G Sema6c semaphorin 6C ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:182,733,635...182,750,066
Ensembl chr 2:182,737,474...182,746,856 		JBrowse link
G Setdb1 SET domain bifurcated histone lysine methyltransferase 1 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:182,898,738...182,930,283
Ensembl chr 2:182,898,738...182,930,506 		JBrowse link
G Sf3b4 splicing factor 3B subunit 4 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:183,732,791...183,737,545
Ensembl chr 2:183,732,754...183,737,959 		JBrowse link
G Sh2d2a SH2 domain containing 2A ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:173,312,253...173,318,810
Ensembl chr 2:173,312,253...173,318,810 		JBrowse link
G Shc1 SHC adaptor protein 1 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:174,837,937...174,849,538
Ensembl chr 2:174,837,930...174,849,536 		JBrowse link
G She Src homology 2 domain containing E ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:175,262,431...175,287,807
Ensembl chr 2:175,262,442...175,286,669 		JBrowse link
G Slc25a44 solute carrier family 25, member 44 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:173,868,317...173,883,137
Ensembl chr 2:173,868,320...173,883,020 		JBrowse link
G Slc27a3 solute carrier family 27 member 3 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:175,853,241...175,857,909
Ensembl chr 2:175,853,241...175,857,909 		JBrowse link
G Slc39a1 solute carrier family 39 member 1 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:175,703,413...175,709,063
Ensembl chr 2:175,703,441...175,709,058 		JBrowse link
G Slc50a1 solute carrier family 50 member 1 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:174,677,985...174,680,366
Ensembl chr 2:174,677,708...174,680,366 		JBrowse link
G Smcp sperm mitochondria-associated cysteine-rich protein ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:178,160,948...178,165,951
Ensembl chr 2:178,160,127...178,166,001 		JBrowse link
G Smg5 SMG5 nonsense mediated mRNA decay factor ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:173,804,987...173,832,102
Ensembl chr 2:173,805,019...173,832,102 		JBrowse link
G Snapin SNAP-associated protein ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:175,971,575...175,974,164
Ensembl chr 2:175,971,257...175,974,231 		JBrowse link
G Snx27 sorting nexin 27 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:182,135,904...182,218,906
Ensembl chr 2:182,135,905...182,218,906 		JBrowse link
G Sprr1a small proline-rich protein 1A ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:178,055,096...178,057,012
Ensembl chr 2:178,055,096...178,057,063 		JBrowse link
G Sprr1b small proline-rich protein 1B ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:178,008,844...178,010,742
Ensembl chr 2:178,009,130...178,009,567 		JBrowse link
G Sprr2a small proline rich protein 2A ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:177,815,964...177,816,236
Ensembl chr 2:177,815,964...177,816,236 		JBrowse link
G Sprr2a2 small proline-rich protein 2A2 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:177,719,576...177,719,845
Ensembl chr 2:177,719,576...177,719,845 		JBrowse link
G Sprr2b small proline rich protein 2B ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:177,852,824...177,853,096
Ensembl chr 2:177,852,824...177,853,096 		JBrowse link
G Sprr2d small proline-rich protein 2D ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:177,870,082...177,870,679
Ensembl chr 2:177,870,434...177,870,679 		JBrowse link
G Sprr2f small proline rich protein 2F ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:177,989,974...177,990,204
Ensembl chr 2:177,989,974...177,990,204 		JBrowse link
G Sprr3 small proline-rich protein 3 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:178,027,743...178,028,501
Ensembl chr 2:178,027,425...178,029,891 		JBrowse link
G Sprr4 small proline-rich protein 4 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:178,082,466...178,083,125
Ensembl chr 2:178,082,871...178,083,104 		JBrowse link
G Ssr2 signal sequence receptor subunit 2 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:174,048,291...174,057,043
Ensembl chr 2:174,048,460...174,057,042 		JBrowse link
G Syt11 synaptotagmin 11 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:174,206,032...174,232,540
Ensembl chr 2:174,206,191...174,231,964 		JBrowse link
G Tars2 threonyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:183,293,095...183,310,210
Ensembl chr 2:183,293,097...183,310,184 		JBrowse link
G Tchh trichohyalin ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:179,103,660...179,112,014
Ensembl chr 2:179,109,609...179,110,985
Ensembl chr 2:179,109,609...179,110,985 		JBrowse link
G Tchhl1 trichohyalin-like 1 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:179,134,941...179,138,467
Ensembl chr 2:179,135,796...179,138,202 		JBrowse link
G Tdrkh tudor and KH domain containing ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:182,049,175...182,071,516
Ensembl chr 2:182,049,215...182,070,755 		JBrowse link
G Thbs3 thrombospondin 3 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:174,621,788...174,633,594
Ensembl chr 2:174,621,812...174,633,594 		JBrowse link
G Them4 thioesterase superfamily member 4 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:181,953,550...181,974,708
Ensembl chr 2:181,953,550...181,974,708 		JBrowse link
G Them5 thioesterase superfamily member 5 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:181,980,783...181,986,002
Ensembl chr 2:181,980,783...181,986,002 		JBrowse link
G Tmem79 transmembrane protein 79 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:173,798,267...173,803,151
Ensembl chr 2:173,798,267...173,803,046 		JBrowse link
G Tmod4 tropomodulin 4 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:182,695,709...182,700,540
Ensembl chr 2:182,695,709...182,700,540 		JBrowse link
G Tnfaip8l2 TNF alpha induced protein 8 like 2 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:182,710,433...182,726,724
Ensembl chr 2:182,709,378...182,726,760 		JBrowse link
G Tpm3 tropomyosin 3 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:175,517,198...175,545,014
Ensembl chr 2:175,517,226...175,545,013 		JBrowse link
G Trim46 tripartite motif-containing 46 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:174,641,494...174,654,237
Ensembl chr 2:174,641,496...174,654,141 		JBrowse link
G Tsacc TSSK6 activating co-chaperone ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:173,755,841...173,765,564
Ensembl chr 2:173,753,786...173,765,404 		JBrowse link
G Ttc24 tetratricopeptide repeat domain 24 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:173,525,204...173,533,182
Ensembl chr 2:173,524,600...173,533,107 		JBrowse link
G Tuft1 tuftelin 1 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:182,259,457...182,306,296
Ensembl chr 2:182,260,398...182,306,192 		JBrowse link
G Ubap2l ubiquitin associated protein 2-like ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:175,438,703...175,494,085
Ensembl chr 2:175,438,703...175,493,998 		JBrowse link
G Ube2q1 ubiquitin conjugating enzyme E2 Q1 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:175,198,793...175,209,152
Ensembl chr 2:175,198,873...175,207,942 		JBrowse link
G Ubqln4 ubiquilin 4 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:174,012,726...174,028,062
Ensembl chr 2:174,012,777...174,028,059 		JBrowse link
G Vps45 vacuolar protein sorting 45 homolog ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome | ClinVar Annotator: match by term: Severe congenital neutropenia 5, autosomal recessive		 OMIM
CTD
ClinVar		 PMID:9536098 PMID:17576681 PMID:23599270 PMID:23738510 PMID:25640679 More... NCBI chr 2:183,555,919...183,616,312
Ensembl chr 2:183,555,921...183,616,295 		JBrowse link
G Vps72 vacuolar protein sorting 72 homolog ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:182,678,594...182,690,185
Ensembl chr 2:182,678,609...182,690,182 		JBrowse link
G Zbtb7b zinc finger and BTB domain containing 7B ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:174,795,831...174,811,980
Ensembl chr 2:174,797,453...174,814,236 		JBrowse link
G Zfp687 zinc finger protein 687 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 2:182,572,893...182,581,641
Ensembl chr 2:182,572,662...182,583,647 		JBrowse link
severe congenital neutropenia 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Brk1 BRICK1 subunit of SCAR/WAVE actin nucleating complex ISO ClinVar Annotator: match by term: Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency ClinVar PMID:28492532 NCBI chr 4:146,750,821...146,766,050
Ensembl chr 4:146,750,821...146,768,856 		JBrowse link
G Cidec cell death-inducing DFFA-like effector c ISO ClinVar Annotator: match by term: Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency ClinVar PMID:28492532 NCBI chr 4:146,569,288...146,582,173
Ensembl chr 4:146,569,289...146,582,173 		JBrowse link
G Creld1 cysteine-rich with EGF-like domains 1 ISO ClinVar Annotator: match by term: Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency ClinVar PMID:28492532 NCBI chr 4:146,631,883...146,641,493
Ensembl chr 4:146,631,883...146,641,499 		JBrowse link
G Emc3 ER membrane protein complex subunit 3 ISO ClinVar Annotator: match by term: Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency ClinVar PMID:28492532 NCBI chr 4:146,663,065...146,678,976
Ensembl chr 4:146,663,067...146,679,029 		JBrowse link
G Fancd2 FA complementation group D2 ISO ClinVar Annotator: match by term: Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency ClinVar PMID:28492532 NCBI chr 4:146,679,014...146,743,422
Ensembl chr 4:146,679,179...146,743,412 		JBrowse link
G Fancd2os FANCD2 opposite strand ISO ClinVar Annotator: match by term: Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency ClinVar PMID:28492532 NCBI chr 4:146,740,863...146,747,547
Ensembl chr 4:146,740,863...146,747,569 		JBrowse link
G Il17rc interleukin 17 receptor C ISO ClinVar Annotator: match by term: Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency ClinVar PMID:28492532 NCBI chr 4:146,618,321...146,631,444
Ensembl chr 4:146,619,004...146,631,442 		JBrowse link
G Il17re interleukin 17 receptor E ISO ClinVar Annotator: match by term: Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency ClinVar PMID:28492532 NCBI chr 4:146,604,547...146,618,206
Ensembl chr 4:146,605,526...146,618,206 		JBrowse link
G Jagn1 jagunal homolog 1 ISO ClinVar Annotator: match by term: Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency | ClinVar Annotator: match by term: Severe congenital neutropenia 6, autosomal recessive
CTD Direct Evidence: marker/mechanism
DNA:missense mutations: :multiple
DNA:missense mutation:exon:p.H44Y (human)		 OMIM
ClinVar
CTD
RGD		 PMID:9536098 PMID:17576681 PMID:25129144 PMID:25741868 PMID:25851723 More... RGD:11531099, RGD:11531098 NCBI chr 4:146,591,577...146,596,287
Ensembl chr 4:146,591,510...146,596,288 		JBrowse link
G Prrt3 proline-rich transmembrane protein 3 ISO ClinVar Annotator: match by term: Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency ClinVar PMID:28492532 NCBI chr 4:146,641,173...146,650,487
Ensembl chr 4:146,641,173...146,650,317 		JBrowse link
G Vhl von Hippel-Lindau tumor suppressor ISO ClinVar Annotator: match by term: Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency ClinVar PMID:28492532 NCBI chr 4:146,772,483...146,779,376
Ensembl chr 4:146,772,468...146,779,377 		JBrowse link
severe congenital neutropenia 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Csf3r colony stimulating factor 3 receptor ISO ClinVar Annotator: match by term: Autosomal recessive severe congenital neutropenia due to CSF3R deficiency | ClinVar Annotator: match by term: Neutropenia, severe congenital, 7, autosomal recessive
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:10449521 PMID:16199547 PMID:17576681 PMID:23604229 More... NCBI chr 5:138,298,605...138,318,224
Ensembl chr 5:138,301,506...138,317,881 		JBrowse link
severe congenital neutropenia 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Srp54a signal recognition particle 54A ISO ClinVar Annotator: match by term: Neutropenia, severe congenital, 8, autosomal dominant | ClinVar Annotator: match by term: SHWACHMAN-DIAMOND SYNDROME-LIKE OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:28972538 PMID:29914977 NCBI chr 6:72,587,584...72,626,878
Ensembl chr 6:72,587,605...72,625,189 		JBrowse link
Severe Congenital Neutropenia 9, Autosomal Dominant term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Clpb ClpB family mitochondrial disaggregase ISO ClinVar Annotator: match by term: Neutropenia, severe congenital, 9, autosomal dominant OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:32313153 PMID:34115842 PMID:34140661 NCBI chr 1:156,028,740...156,158,183
Ensembl chr 1:156,028,930...156,168,788 		JBrowse link
Short Stature, Optic Nerve Atrophy, and Pelger-Huet Anomaly term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nbas NBAS subunit of NRZ tethering complex ISO ClinVar Annotator: match by term: NBAS-related condition | ClinVar Annotator: match by term: Short stature, optic nerve atrophy, and Pelger-Huet anomaly OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:20577004 PMID:24033266 More... NCBI chr 6:36,048,357...36,353,206
Ensembl chr 6:36,048,191...36,352,984 		JBrowse link
SM-AHNMD term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Asxl1 ASXL transcriptional regulator 1 disease_progression ISO DNA:mutations: : RGD PMID:24465546 RGD:11038711 NCBI chr 3:141,814,012...141,881,526
Ensembl chr 3:141,813,433...141,881,538 		JBrowse link
Specific Granule Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acin1 apoptotic chromatin condensation inducer 1 ISO ClinVar Annotator: match by term: Specific granule deficiency ClinVar PMID:28492532 NCBI chr15:28,102,112...28,147,001
Ensembl chr15:28,102,112...28,147,001 		JBrowse link
G Adcy4 adenylate cyclase 4 ISO ClinVar Annotator: match by term: Specific granule deficiency ClinVar PMID:28492532 NCBI chr15:29,266,280...29,282,153
Ensembl chr15:29,266,287...29,282,108 		JBrowse link
G Ajuba ajuba LIM protein ISO ClinVar Annotator: match by term: Specific granule deficiency ClinVar PMID:28492532 NCBI chr15:28,019,775...28,031,537
Ensembl chr15:28,019,778...28,030,021 		JBrowse link
G Ap1g2 adaptor related protein complex 1 subunit gamma 2 ISO ClinVar Annotator: match by term: Specific granule deficiency ClinVar PMID:28492532 NCBI chr15:28,571,571...28,579,421
Ensembl chr15:28,571,568...28,589,004 		JBrowse link
G Bcl2l2 Bcl2-like 2 ISO ClinVar Annotator: match by term: Specific granule deficiency ClinVar PMID:11313242 PMID:11435463 PMID:28492532 NCBI chr15:28,346,449...28,361,627
Ensembl chr15:28,356,807...28,361,624 		JBrowse link
G C15h14orf119 similar to human chromosome 14 open reading frame 119 ISO ClinVar Annotator: match by term: Specific granule deficiency ClinVar PMID:28492532 NCBI chr15:28,146,368...28,151,422
Ensembl chr15:28,146,333...28,155,180 		JBrowse link
G C15h14orf93 similar to human chromosome 14 open reading frame 93 ISO ClinVar Annotator: match by term: Specific granule deficiency ClinVar PMID:28492532 NCBI chr15:28,037,567...28,064,347
Ensembl chr15:28,037,574...28,064,274 		JBrowse link
G Carmil3 capping protein regulator and myosin 1 linker 3 ISO ClinVar Annotator: match by term: Specific granule deficiency ClinVar PMID:28492532 NCBI chr15:28,978,440...28,995,865
Ensembl chr15:28,979,007...28,996,225 		JBrowse link
G Cbln3 cerebellin 3 precursor ISO ClinVar Annotator: match by term: Specific granule deficiency ClinVar PMID:28492532 NCBI chr15:29,362,014...29,364,523
Ensembl chr15:29,362,302...29,364,612 		JBrowse link
G Cdh24 cadherin 24 ISO ClinVar Annotator: match by term: Specific granule deficiency ClinVar PMID:28492532 NCBI chr15:28,091,578...28,101,330
Ensembl chr15:28,091,637...28,101,340 		JBrowse link
G Cebpe CCAAT/enhancer binding protein epsilon ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Specific granule deficiency		 CTD
ClinVar		 PMID:9536098 PMID:11313242 PMID:11435463 PMID:17576681 PMID:25741868 More... NCBI chr15:28,169,711...28,171,471
Ensembl chr15:28,169,704...28,171,814 		JBrowse link
G Cideb cell death-inducing DFFA-like effector b ISO ClinVar Annotator: match by term: Specific granule deficiency ClinVar PMID:28492532 NCBI chr15:29,252,208...29,256,482
Ensembl chr15:29,252,213...29,256,605 		JBrowse link
G Cma1 chymase 1 ISO ClinVar Annotator: match by term: Specific granule deficiency ClinVar PMID:28492532 NCBI chr15:29,417,451...29,420,233
Ensembl chr15:29,417,451...29,420,233 		JBrowse link
G Cmtm5 CKLF-like MARVEL transmembrane domain containing 5 ISO ClinVar Annotator: match by term: Specific granule deficiency ClinVar PMID:11313242 PMID:11435463 PMID:28492532 NCBI chr15:28,412,624...28,415,304
Ensembl chr15:28,412,624...28,415,287 		JBrowse link
G Cpne6 copine 6 ISO ClinVar Annotator: match by term: Specific granule deficiency ClinVar PMID:28492532 NCBI chr15:28,998,293...29,005,044
Ensembl chr15:28,998,293...29,005,044 		JBrowse link
G Ctsg cathepsin G ISO ClinVar Annotator: match by term: Specific granule deficiency ClinVar PMID:28492532 NCBI chr15:29,930,988...29,937,353
Ensembl chr15:29,931,003...29,937,353 		JBrowse link
G Dcaf11 DDB1 and CUL4 associated factor 11 ISO ClinVar Annotator: match by term: Specific granule deficiency ClinVar PMID:28492532 NCBI chr15:29,046,744...29,057,450
Ensembl chr15:29,046,826...29,057,669 		JBrowse link
G Dhrs1 dehydrogenase/reductase 1 ISO ClinVar Annotator: match by term: Specific granule deficiency ClinVar PMID:28492532 NCBI chr15:29,236,522...29,243,807
Ensembl chr15:29,236,522...29,243,838 		JBrowse link
G Dhrs2 dehydrogenase/reductase 2 ISO ClinVar Annotator: match by term: Specific granule deficiency ClinVar PMID:28492532 NCBI chr15:28,688,881...28,703,646
Ensembl chr15:28,688,940...28,703,644 		JBrowse link
G Dhrs4 dehydrogenase/reductase 4 ISO ClinVar Annotator: match by term: Specific granule deficiency ClinVar PMID:28492532 NCBI chr15:28,966,544...28,978,135
Ensembl chr15:28,966,553...28,978,127 		JBrowse link
G Efs embryonal Fyn-associated substrate ISO ClinVar Annotator: match by term: Specific granule deficiency ClinVar PMID:11313242 PMID:11435463 PMID:28492532 NCBI chr15:28,392,417...28,403,016
Ensembl chr15:28,392,187...28,401,902 		JBrowse link
G Emc9 ER membrane protein complex subunit 9 ISO ClinVar Annotator: match by term: Specific granule deficiency ClinVar PMID:28492532 NCBI chr15:29,071,881...29,076,098
Ensembl chr15:29,071,883...29,076,098 		JBrowse link
G Fitm1 fat storage-inducing transmembrane protein 1 ISO ClinVar Annotator: match by term: Specific granule deficiency ClinVar PMID:28492532 NCBI chr15:29,064,746...29,066,015
Ensembl chr15:29,064,707...29,066,015 		JBrowse link
G Gmpr2 guanosine monophosphate reductase 2 ISO ClinVar Annotator: match by term: Specific granule deficiency ClinVar PMID:28492532 NCBI chr15:29,165,421...29,175,933
Ensembl chr15:29,165,783...29,174,935 		JBrowse link
G Gzmb granzyme B ISO ClinVar Annotator: match by term: Specific granule deficiency ClinVar PMID:28492532 NCBI chr15:30,343,352...30,346,814
Ensembl chr15:30,173,603...30,346,814 		JBrowse link
G Gzmf granzyme F ISO ClinVar Annotator: match by term: Specific granule deficiency ClinVar PMID:28492532 NCBI chr15:30,005,361...30,018,649
Ensembl chr15:30,007,267...30,018,649 		JBrowse link
G Haus4 HAUS augmin-like complex, subunit 4 ISO ClinVar Annotator: match by term: Specific granule deficiency ClinVar PMID:28492532 NCBI chr15:27,994,530...28,006,147
Ensembl chr15:27,994,532...28,005,938 		JBrowse link
G Homez homeobox and leucine zipper encoding ISO ClinVar Annotator: match by term: Specific granule deficiency ClinVar PMID:11313242 PMID:11435463 PMID:28492532 NCBI chr15:28,321,633...28,339,486
Ensembl chr15:28,320,819...28,339,745 		JBrowse link
G Il25 interleukin 25 ISO ClinVar Annotator: match by term: Specific granule deficiency ClinVar PMID:11313242 PMID:11435463 PMID:28492532 NCBI chr15:28,408,766...28,412,157
Ensembl chr15:28,408,842...28,411,893 		JBrowse link
G Ipo4 importin 4 ISO ClinVar Annotator: match by term: Specific granule deficiency ClinVar PMID:28492532 NCBI chr15:29,117,365...29,127,382
Ensembl chr15:29,117,365...29,127,285 		JBrowse link
G Irf9 interferon regulatory factor 9 ISO ClinVar Annotator: match by term: Specific granule deficiency ClinVar PMID:28492532 NCBI chr15:29,095,474...29,101,924
Ensembl chr15:29,095,789...29,101,236 		JBrowse link
G Jph4 junctophilin 4 ISO ClinVar Annotator: match by term: Specific granule deficiency ClinVar PMID:28492532 NCBI chr15:28,579,579...28,588,903
Ensembl chr15:28,571,568...28,587,573 		JBrowse link
G Khnyn KH and NYN domain containing ISO ClinVar Annotator: match by term: Specific granule deficiency ClinVar PMID:28492532 NCBI chr15:29,365,399...29,379,650
Ensembl chr15:29,365,260...29,376,967 		JBrowse link
G Lrp10 LDL receptor related protein 10 ISO ClinVar Annotator: match by term: Specific granule deficiency ClinVar PMID:28492532 NCBI chr15:27,921,335...27,927,507
Ensembl chr15:27,920,259...27,927,505 		JBrowse link
G Ltb4r leukotriene B4 receptor ISO ClinVar Annotator: match by term: Specific granule deficiency ClinVar PMID:28492532 NCBI chr15:29,263,199...29,265,716 JBrowse link
G Ltb4r2 leukotriene B4 receptor 2 ISO ClinVar Annotator: match by term: Specific granule deficiency ClinVar PMID:28492532 NCBI chr15:29,258,712...29,260,531
Ensembl chr15:29,259,240...29,260,316 		JBrowse link
G Mdp1 magnesium-dependent phosphatase 1 ISO ClinVar Annotator: match by term: Specific granule deficiency ClinVar PMID:28492532 NCBI chr15:29,148,994...29,151,868
Ensembl chr15:29,148,994...29,151,905 		JBrowse link
G Mir208a microRNA 208a ISO ClinVar Annotator: match by term: Specific granule deficiency ClinVar PMID:11313242 PMID:11435463 PMID:28492532 NCBI chr15:28,425,570...28,425,652 JBrowse link
G Mir208b microRNA 208b ISO ClinVar Annotator: match by term: Specific granule deficiency ClinVar PMID:11313242 PMID:11435463 PMID:28492532 NCBI chr15:28,451,638...28,451,749
Ensembl chr15:28,451,638...28,451,749 		JBrowse link
G Mmp14 matrix metallopeptidase 14 ISO ClinVar Annotator: match by term: Specific granule deficiency ClinVar PMID:28492532 NCBI chr15:27,887,795...27,897,020
Ensembl chr15:27,887,727...27,899,864 		JBrowse link
G Mrpl52 mitochondrial ribosomal protein L52 ISO ClinVar Annotator: match by term: Specific granule deficiency ClinVar PMID:28492532 NCBI chr15:27,882,777...27,886,131
Ensembl chr15:27,882,829...27,886,799 		JBrowse link
G Myh6 myosin heavy chain 6 ISO ClinVar Annotator: match by term: Specific granule deficiency ClinVar PMID:11313242 PMID:11435463 PMID:28492532 NCBI chr15:28,418,120...28,442,316
Ensembl chr15:28,417,616...28,441,720 		JBrowse link
G Myh7 myosin heavy chain 7 ISO ClinVar Annotator: match by term: Specific granule deficiency ClinVar PMID:11313242 PMID:11435463 PMID:28492532 NCBI chr15:28,446,550...28,469,888
Ensembl chr15:28,446,550...28,468,217 		JBrowse link
G Nedd8 NEDD8 ubiquitin like modifier ISO ClinVar Annotator: match by term: Specific granule deficiency ClinVar PMID:28492532 NCBI chr15:29,153,556...29,165,575
Ensembl chr15:29,153,556...29,166,160 		JBrowse link
G Nfatc4 nuclear factor of activated T-cells 4 ISO ClinVar Annotator: match by term: Specific granule deficiency ClinVar PMID:28492532 NCBI chr15:29,286,998...29,314,610
Ensembl chr15:29,305,535...29,314,610 		JBrowse link
G Ngdn neuroguidin ISO ClinVar Annotator: match by term: Specific granule deficiency ClinVar PMID:28492532 NCBI chr15:28,489,950...28,497,286
Ensembl chr15:28,490,040...28,519,654 		JBrowse link
G Nop9 NOP9 nucleolar protein ISO ClinVar Annotator: match by term: Specific granule deficiency ClinVar PMID:28492532 NCBI chr15:29,243,853...29,252,220
Ensembl chr15:29,243,862...29,252,220 		JBrowse link
G Nrl neural retina leucine zipper ISO ClinVar Annotator: match by term: Specific granule deficiency ClinVar PMID:28492532 NCBI chr15:29,007,059...29,011,480
Ensembl chr15:29,008,104...29,009,832 		JBrowse link
G Nynrin NYN domain and retroviral integrase containing ISO ClinVar Annotator: match by term: Specific granule deficiency ClinVar PMID:28492532 NCBI chr15:29,332,873...29,355,215
Ensembl chr15:29,332,869...29,355,215 		JBrowse link
G Pabpn1 poly(A) binding protein, nuclear 1 ISO ClinVar Annotator: match by term: Specific granule deficiency ClinVar PMID:11313242 PMID:11435463 PMID:28492532 NCBI chr15:28,368,100...28,372,712
Ensembl chr15:28,368,100...28,372,703 		JBrowse link
G Pck2 phosphoenolpyruvate carboxykinase 2 (mitochondrial) ISO ClinVar Annotator: match by term: Specific granule deficiency ClinVar PMID:28492532 NCBI chr15:29,027,891...29,036,729
Ensembl chr15:29,027,894...29,037,283 		JBrowse link
G Ppp1r3e protein phosphatase 1, regulatory subunit 3E ISO ClinVar Annotator: match by term: Specific granule deficiency ClinVar PMID:11313242 PMID:11435463 PMID:28492532 NCBI chr15:28,348,443...28,349,603
Ensembl chr15:28,347,854...28,349,603 		JBrowse link
G Prmt5 protein arginine methyltransferase 5 ISO ClinVar Annotator: match by term: Specific granule deficiency ClinVar PMID:28492532 NCBI chr15:27,968,893...27,978,291
Ensembl chr15:27,968,910...27,978,296 		JBrowse link
G Psmb11 proteasome subunit beta 11 ISO ClinVar Annotator: match by term: Specific granule deficiency ClinVar PMID:28492532 NCBI chr15:28,084,736...28,085,655 JBrowse link
G Psmb5 proteasome 20S subunit beta 5 ISO ClinVar Annotator: match by term: Specific granule deficiency ClinVar PMID:28492532 NCBI chr15:28,072,772...28,077,367
Ensembl chr15:28,072,781...28,077,440 		JBrowse link
G Psme1 proteasome activator subunit 1 ISO ClinVar Annotator: match by term: Specific granule deficiency ClinVar PMID:28492532 NCBI chr15:29,069,012...29,071,888
Ensembl chr15:29,068,729...29,071,890 		JBrowse link
G Psme2 proteasome activator subunit 2 ISO ClinVar Annotator: match by term: Specific granule deficiency ClinVar PMID:28492532 NCBI chr15:29,078,495...29,082,794
Ensembl chr15:29,078,500...29,082,946 		JBrowse link
G Rabggta Rab geranylgeranyltransferase subunit alpha ISO ClinVar Annotator: match by term: Specific granule deficiency ClinVar PMID:28492532 NCBI chr15:29,206,328...29,213,398
Ensembl chr15:29,206,157...29,213,348 		JBrowse link
G Rec8 REC8 meiotic recombination protein ISO ClinVar Annotator: match by term: Specific granule deficiency ClinVar PMID:28492532 NCBI chr15:29,109,862...29,117,327
Ensembl chr15:29,109,863...29,117,326 		JBrowse link
G Rem2 RRAD and GEM like GTPase 2 ISO ClinVar Annotator: match by term: Specific granule deficiency ClinVar PMID:28492532 NCBI chr15:27,933,950...27,938,429
Ensembl chr15:27,933,950...27,938,429 		JBrowse link
G Ripk3 receptor-interacting serine-threonine kinase 3 ISO ClinVar Annotator: match by term: Specific granule deficiency ClinVar PMID:28492532 NCBI chr15:29,283,153...29,292,107
Ensembl chr15:29,283,145...29,292,121 		JBrowse link
G Rnf212b ring finger protein 212B ISO ClinVar Annotator: match by term: Specific granule deficiency ClinVar PMID:11313242 PMID:11435463 PMID:28492532 NCBI chr15:28,274,629...28,321,093
Ensembl chr15:28,244,083...28,321,347 		JBrowse link
G Rnf31 ring finger protein 31 ISO ClinVar Annotator: match by term: Specific granule deficiency ClinVar PMID:28492532 NCBI chr15:29,083,047...29,095,328
Ensembl chr15:29,083,631...29,101,915 		JBrowse link
G Sdr39u1 short chain dehydrogenase/reductase family 39U, member 1 ISO ClinVar Annotator: match by term: Specific granule deficiency ClinVar PMID:28492532 NCBI chr15:29,378,156...29,380,989
Ensembl chr15:29,378,026...29,381,560 		JBrowse link
G Slc22a17 solute carrier family 22, member 17 ISO ClinVar Annotator: match by term: Specific granule deficiency ClinVar PMID:11313242 PMID:11435463 PMID:28492532 NCBI chr15:28,382,285...28,389,435
Ensembl chr15:28,382,292...28,388,799 		JBrowse link
G Slc7a7 solute carrier family 7 member 7 ISO ClinVar Annotator: match by term: Specific granule deficiency ClinVar PMID:28492532 NCBI chr15:27,822,088...27,873,121
Ensembl chr15:27,822,091...27,865,648 		JBrowse link
G Slc7a8 solute carrier family 7 member 8 ISO ClinVar Annotator: match by term: Specific granule deficiency ClinVar PMID:11313242 PMID:11435463 PMID:28492532 NCBI chr15:28,183,013...28,242,717
Ensembl chr15:28,183,015...28,242,717 		JBrowse link
G Smarcd2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28369034 PMID:28369036 NCBI chr10:91,193,752...91,202,817
Ensembl chr10:91,193,752...91,204,341 		JBrowse link
G Tgm1 transglutaminase 1 ISO ClinVar Annotator: match by term: Specific granule deficiency ClinVar PMID:28492532 NCBI chr15:29,191,039...29,206,000
Ensembl chr15:29,191,041...29,204,523 		JBrowse link
G Thtpa thiamine triphosphatase ISO ClinVar Annotator: match by term: Specific granule deficiency ClinVar PMID:28492532 NCBI chr15:28,567,619...28,571,580
Ensembl chr15:28,567,323...28,571,580 		JBrowse link
G Tinf2 TERF1 interacting nuclear factor 2 ISO ClinVar Annotator: match by term: Specific granule deficiency ClinVar PMID:28492532 NCBI chr15:29,170,663...29,178,015
Ensembl chr15:29,170,652...29,176,984 		JBrowse link
G Tm9sf1 transmembrane 9 superfamily member 1 ISO ClinVar Annotator: match by term: Specific granule deficiency ClinVar PMID:28492532 NCBI chr15:29,127,585...29,135,334
Ensembl chr15:29,127,584...29,135,349 		JBrowse link
G Tssk4 testis-specific serine kinase 4 ISO ClinVar Annotator: match by term: Specific granule deficiency ClinVar PMID:28492532 NCBI chr15:29,140,803...29,144,128
Ensembl chr15:29,141,792...29,144,128 		JBrowse link
G Zfhx2 zinc finger homeobox 2 ISO ClinVar Annotator: match by term: Specific granule deficiency ClinVar PMID:28492532 NCBI chr15:28,533,155...28,565,667
Ensembl chr15:28,533,156...28,565,128 		JBrowse link
Specific Granule Deficiency 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cebpe CCAAT/enhancer binding protein epsilon ISO ClinVar Annotator: match by term: Specific granule deficiency 1 OMIM
ClinVar		 PMID:758416 PMID:4129798 PMID:7088114 PMID:10359588 PMID:11313242 More... NCBI chr15:28,169,711...28,171,471
Ensembl chr15:28,169,704...28,171,814 		JBrowse link
G Smarcd2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 2 ISO ClinVar Annotator: match by term: Specific granule deficiency 1 ClinVar PMID:28369036 NCBI chr10:91,193,752...91,202,817
Ensembl chr10:91,193,752...91,204,341 		JBrowse link
Specific Granule Deficiency 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Smarcd2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 2 ISO ClinVar Annotator: match by term: SMARCD2-related condition | ClinVar Annotator: match by term: Specific granule deficiency 2 OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:25741868 PMID:28369036 PMID:28492532 More... NCBI chr10:91,193,752...91,202,817
Ensembl chr10:91,193,752...91,204,341 		JBrowse link
splenic marginal zone lymphoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cd79b CD79b molecule ISO protein:decreased expression:blood, B cell (human) RGD PMID:10329919 RGD:11531139 NCBI chr10:91,239,354...91,242,500
Ensembl chr10:91,239,356...91,242,625 		JBrowse link
systemic mastocytosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hmox1 heme oxygenase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17420286 NCBI chr19:13,466,287...13,474,082
Ensembl chr19:13,467,244...13,474,079 		JBrowse link
G Kit KIT proto-oncogene receptor tyrosine kinase ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Systemic mast cell disease		 CTD
ClinVar		 PMID:16597595 PMID:18559612 NCBI chr14:32,547,459...32,624,694
Ensembl chr14:32,548,877...32,624,652 		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 chr10:63,251,400...63,273,710
Ensembl chr10:63,251,400...63,273,710 		JBrowse link
T-Cell OKT4 Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cd4 Cd4 molecule ISO ClinVar Annotator: match by term: Okt4 epitope deficiency OMIM
ClinVar		 PMID:1708753 PMID:1961196 PMID:7689618 PMID:25741868 PMID:33116287 NCBI chr 4:157,668,878...157,695,366 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 chr10:85,704,841...85,775,856
Ensembl chr10:85,705,670...85,775,668 		JBrowse link
G Themis thymocyte selection associated IAGP DNA:frameshift mutation: RGD PMID:22275874 RGD:38599149 NCBI chr 1:16,433,906...16,623,889
Ensembl chr 1:16,432,631...16,664,329 		JBrowse link
G Themism1Adej thymocyte selection associated; mutant1, Adej IAGP RGD PMID:22275874 RGD:38599149
transient myeloproliferative syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gata1 GATA binding protein 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Transient myeloproliferative syndrome		 CTD
OMIM
ClinVar
RGD		 PMID:24056718 PMID:27993330 PMID:14636651 RGD:10450612 NCBI chr  X:14,529,706...14,537,530
Ensembl chr  X:14,529,702...14,537,530 		JBrowse link
G Runx1 RUNX family transcription factor 1 ISO ClinVar Annotator: match by term: Transient myeloproliferative disorder of Down syndrome ClinVar PMID:10068652 PMID:12200707 PMID:15156185 PMID:23817177 PMID:28492532 NCBI chr11:31,839,880...32,074,427
Ensembl chr11:31,843,764...32,074,542 		JBrowse link
urticaria pigmentosa term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kit KIT proto-oncogene receptor tyrosine kinase ISO ClinVar Annotator: match by term: MASTOCYTOSIS, MACULOPAPULAR CUTANEOUS ClinVar PMID:7479840 PMID:7691885 PMID:8589724 PMID:9827716 PMID:9990072 More... NCBI chr14:32,547,459...32,624,694
Ensembl chr14:32,548,877...32,624,652 		JBrowse link
WHIM syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cxcr4 C-X-C motif chemokine receptor 4 ISO
ISS		 DNA:frame shift, nonsense mutations:cds:1016_1017delCT,p.R334X,E343X(human)
ClinVar Annotator: match by term: CXCR4-related condition | ClinVar Annotator: match by term: WHIM syndrome 1 | ClinVar Annotator: match by term: Warts, hypogammaglobulinemia, infections, and myelokathexis
OMIM:193670
CTD Direct Evidence: marker/mechanism		 ClinVar
MouseDO
CTD
OMIM
RGD		 PMID:12692554 PMID:15026312 PMID:15536153 PMID:16275383 PMID:16899028 More... RGD:734860 NCBI chr13:40,077,976...40,081,883
Ensembl chr13:40,077,976...40,081,883 		JBrowse link
G Dars1 aspartyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Warts, hypogammaglobulinemia, infections, and myelokathexis ClinVar PMID:28492532 NCBI chr13:39,857,936...39,913,055
Ensembl chr13:39,857,936...39,913,116 		JBrowse link
G Lct lactase ISO ClinVar Annotator: match by term: Warts, hypogammaglobulinemia, infections, and myelokathexis ClinVar PMID:28492532 NCBI chr13:39,781,929...39,824,456
Ensembl chr13:39,781,929...39,824,456 		JBrowse link
G Mcm6 minichromosome maintenance complex component 6 ISO ClinVar Annotator: match by term: Warts, hypogammaglobulinemia, infections, and myelokathexis ClinVar PMID:28492532 NCBI chr13:39,826,745...39,851,937
Ensembl chr13:39,826,763...39,851,960 		JBrowse link
G Mir128-1 microRNA 128-1 ISO ClinVar Annotator: match by term: Warts, hypogammaglobulinemia, infections, and myelokathexis ClinVar PMID:28492532 NCBI chr13:39,699,449...39,699,530
Ensembl chr13:39,699,449...39,699,530 		JBrowse link
G R3hdm1 R3H domain containing 1 ISO ClinVar Annotator: match by term: Warts, hypogammaglobulinemia, infections, and myelokathexis ClinVar PMID:28492532 NCBI chr13:39,595,848...39,733,876
Ensembl chr13:39,595,848...39,733,876 		JBrowse link
G Rab3gap1 RAB3 GTPase activating protein catalytic subunit 1 ISO ClinVar Annotator: match by term: Warts, hypogammaglobulinemia, infections, and myelokathexis ClinVar PMID:28492532 NCBI chr13:39,355,698...39,429,154
Ensembl chr13:39,352,247...39,429,169 		JBrowse link
G Ubxn4 UBX domain protein 4 ISO ClinVar Annotator: match by term: Warts, hypogammaglobulinemia, infections, and myelokathexis ClinVar PMID:28492532 NCBI chr13:39,740,064...39,772,493
Ensembl chr13:39,740,107...39,772,491 		JBrowse link
G Zranb3 zinc finger RANBP2-type containing 3 ISO ClinVar Annotator: match by term: Warts, hypogammaglobulinemia, infections, and myelokathexis ClinVar PMID:28492532 NCBI chr13:39,440,653...39,595,782
Ensembl chr13:39,440,889...39,595,670 		JBrowse link
WHIM Syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cxcr2 C-X-C motif chemokine receptor 2 ISO ClinVar Annotator: match by term: CXCR2-related condition | ClinVar Annotator: match by term: WHIM syndrome 2 OMIM
ClinVar		 PMID:24777453 PMID:25741868 PMID:28492532 NCBI chr 9:75,729,493...75,735,868
Ensembl chr 9:75,729,115...75,739,425 		JBrowse link
Wiskott-Aldrich syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Foxp3 forkhead box P3 ISS OMIM:301000 | OMIM:614493 MouseDO NCBI chr  X:14,908,494...14,924,994
Ensembl chr  X:14,908,494...14,923,838 		JBrowse link
G Was WASP actin nucleation promoting factor ISO
ISS		 ClinVar Annotator: match by term: Aldrich syndrome | ClinVar Annotator: match by term: WISKOTT-ALDRICH SYNDROME 1 | ClinVar Annotator: match by term: Wiskott-Aldrich syndrome | ClinVar Annotator: match by term: Wiskott-Aldrich syndrome, attenuated
OMIM:301000
CTD Direct Evidence: marker/mechanism		 ClinVar
MouseDO
CTD
OMIM
RGD		 PMID:2906042 PMID:3284030 PMID:7579329 PMID:7579347 PMID:7735919 More... RGD:1599803 NCBI chr  X:14,405,105...14,413,850
Ensembl chr  X:14,405,124...14,413,849 		JBrowse link
G Washc4 WASH complex subunit 4 ISS OMIM:301000 MouseDO NCBI chr 7:20,187,905...20,240,228
Ensembl chr 7:20,187,922...20,240,226 		JBrowse link
G Wipf1 WAS/WASL interacting protein family, member 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 3:58,314,521...58,416,668
Ensembl chr 3:58,314,542...58,372,742 		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 chr16:58,763,517...58,898,604
Ensembl chr16:58,763,504...58,895,450 		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 3:58,454,763...58,469,832
Ensembl chr 3:58,454,744...58,469,840 		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 3:58,314,521...58,416,668
Ensembl chr 3:58,314,542...58,372,742 		JBrowse link
X-linked chronic granulomatous disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cyba cytochrome b-245 alpha chain ISO ClinVar Annotator: match by term: Granulomatous disease, chronic, X-linked ClinVar PMID:28492532 NCBI chr19:50,487,598...50,495,669
Ensembl chr19:50,487,597...50,495,721 		JBrowse link
G Cybb cytochrome b-245 beta chain treatment ISO ClinVar Annotator: match by term: Granulomatous disease, chronic, X-linked | ClinVar Annotator: match by term: Granulomatous disease, chronic, X-linked, variant
DNA:deletion:cds:
DNA:missense mutations:exons:1558T>C,937G>A,1271T>C,313C>T(human)		 OMIM
ClinVar
RGD		 PMID:1347621 PMID:1438069 PMID:1520880 PMID:1710153 PMID:1719419 More... RGD:11040567, RGD:11040562, RGD:11040560 NCBI chr  X:13,358,101...13,392,570
Ensembl chr  X:13,359,430...13,392,586 		JBrowse link
G Dynlt3 dynein light chain Tctex-type 3 ISO ClinVar Annotator: match by term: Granulomatous disease, chronic, X-linked ClinVar PMID:22929960 PMID:27701760 PMID:28492532 NCBI chr  X:13,327,933...13,337,139
Ensembl chr  X:13,327,892...13,337,139 		JBrowse link
G H2ap H2A.P histone ISO ClinVar Annotator: match by term: Granulomatous disease, chronic, X-linked ClinVar PMID:22929960 PMID:27701760 PMID:28492532 NCBI chr  X:12,907,962...12,908,516 JBrowse link
G Ncf1 neutrophil cytosolic factor 1 ISO ClinVar Annotator: match by term: CYTOCHROME b-NEGATIVE GRANULOMATOUS DISEASE, CHRONIC, X-LINKED ClinVar PMID:25741868 NCBI chr12:22,485,382...22,494,647
Ensembl chr12:22,485,451...22,494,646 		JBrowse link
G Otc ornithine transcarbamylase ISO ClinVar Annotator: match by term: Granulomatous disease, chronic, X-linked ClinVar PMID:22929960 PMID:27701760 PMID:28492532 NCBI chr  X:12,453,834...12,529,954
Ensembl chr  X:12,453,834...12,566,918 		JBrowse link
G Rpgr retinitis pigmentosa GTPase regulator ISO ClinVar Annotator: match by term: Granulomatous disease, chronic, X-linked ClinVar PMID:22929960 PMID:27701760 PMID:28492532 NCBI chr  X:12,566,447...12,628,171
Ensembl chr  X:12,566,645...12,747,882 		JBrowse link
G Srpx sushi-repeat-containing protein, X-linked ISO ClinVar Annotator: match by term: Granulomatous disease, chronic, X-linked ClinVar PMID:22929960 PMID:27701760 PMID:28492532 NCBI chr  X:12,676,984...12,751,296
Ensembl chr  X:12,566,645...12,747,882 		JBrowse link
G Sytl5 synaptotagmin-like 5 ISO ClinVar Annotator: match by term: Granulomatous disease, chronic, X-linked ClinVar PMID:22929960 PMID:27701760 PMID:28492532 NCBI chr  X:12,775,529...13,030,134
Ensembl chr  X:12,788,698...13,030,175 		JBrowse link
G Xk X-linked Kx blood group antigen, Kell and VPS13A binding protein ISO ClinVar Annotator: match by term: Granulomatous disease, chronic, X-linked ClinVar PMID:8634410 PMID:9585602 PMID:20729109 PMID:22929960 PMID:27701760 More... NCBI chr  X:13,436,412...13,472,830
Ensembl chr  X:13,436,418...13,472,830 		JBrowse link
X-linked dyserythropoietic anemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gata1 GATA binding protein 1 ISO ClinVar Annotator: match by term: ANEMIA, X-LINKED, WITH OR WITHOUT NEUTROPENIA AND/OR PLATELET ABNORMALITIES
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:871527 PMID:12200364 PMID:14691578 PMID:15895080 PMID:16783379 More... NCBI chr  X:14,529,706...14,537,530
Ensembl chr  X:14,529,702...14,537,530 		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:71,094,144...71,201,550
Ensembl chr  X:71,094,202...71,198,354 		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:70,850,981...70,997,330
Ensembl chr  X:70,850,981...70,997,330 		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:71,083,486...71,089,733
Ensembl chr  X:71,083,456...71,089,732 		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
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:21796205 PMID:24550228 More... NCBI chr  X:71,038,489...71,079,704
Ensembl chr  X:71,038,489...71,079,699 		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:71,271,454...71,287,429
Ensembl chr  X:71,271,440...71,287,418 		JBrowse link
X-linked severe congenital neutropenia 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: X-linked severe congenital neutropenia ClinVar PMID:28492532 NCBI chr  X:15,435,391...15,445,684
Ensembl chr  X:15,435,410...15,445,684 		JBrowse link
G Araf A-Raf proto-oncogene, serine/threonine kinase ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:8530058 PMID:9476131 PMID:10698340 PMID:10909851 PMID:12969986 More... NCBI chr  X:1,227,392...1,292,356
Ensembl chr  X:1,227,392...1,239,073 		JBrowse link
G Bmp15 bone morphogenetic protein 15 ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:28492532 NCBI chr  X:16,169,123...16,174,187
Ensembl chr  X:16,169,123...16,174,187 		JBrowse link
G Cacna1f calcium voltage-gated channel subunit alpha1 F ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:28492532 NCBI chr  X:14,868,096...14,896,413
Ensembl chr  X:14,868,024...14,896,413 		JBrowse link
G Ccdc120 coiled-coil domain containing 120 ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:28492532 NCBI chr  X:14,753,594...14,772,745
Ensembl chr  X:14,753,696...14,772,743 		JBrowse link
G Ccdc22 coiled-coil domain containing 22 ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:28492532 NCBI chr  X:14,898,296...14,910,244
Ensembl chr  X:14,898,296...14,910,244 		JBrowse link
G Ccnb3 cyclin B3 ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:28492532 NCBI chr  X:15,478,050...15,543,292
Ensembl chr  X:15,478,065...15,542,885 		JBrowse link
G Cdk16 cyclin-dependent kinase 16 ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:8530058 PMID:9476131 PMID:10698340 PMID:10909851 PMID:12969986 More... NCBI chr  X:1,492,814...1,504,309
Ensembl chr  X:1,492,814...1,504,148 		JBrowse link
G Cfp complement factor properdin ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:8530058 PMID:9476131 PMID:10698340 PMID:10909851 PMID:12969986 More... NCBI chr  X:1,162,014...1,167,576
Ensembl chr  X:1,161,979...1,167,573 		JBrowse link
G Clcn5 chloride voltage-gated channel 5 ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:28492532 NCBI chr  X:15,185,380...15,339,977
Ensembl chr  X:15,185,451...15,334,264 		JBrowse link
G Dgkk diacylglycerol kinase kappa ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:28492532 NCBI chr  X:15,581,991...15,713,814
Ensembl chr  X:15,583,572...15,712,987 		JBrowse link
G Ebp EBP, cholestenol delta-isomerase ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:8530058 PMID:9476131 PMID:10698340 PMID:10909851 PMID:12969986 More... NCBI chr  X:14,299,427...14,305,826
Ensembl chr  X:14,299,448...14,305,826 		JBrowse link
G Elane elastase, neutrophil expressed ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:24033266 NCBI chr 7:9,817,251...9,819,174
Ensembl chr 7:9,817,252...9,819,100 		JBrowse link
G Elk1 ETS transcription factor ELK1 ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:8530058 PMID:9476131 PMID:10698340 PMID:10909851 PMID:12969986 More... NCBI chr  X:1,138,826...1,155,713
Ensembl chr  X:1,139,756...1,155,713 		JBrowse link
G Eras ES cell expressed Ras ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:28492532 NCBI chr  X:14,573,987...14,578,455
Ensembl chr  X:14,573,987...14,578,374 		JBrowse link
G Foxp3 forkhead box P3 ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:28492532 NCBI chr  X:14,908,494...14,924,994
Ensembl chr  X:14,908,494...14,923,838 		JBrowse link
G Ftsj1 FtsJ RNA 2'-O-methyltransferase 1 ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:8530058 PMID:9476131 PMID:10698340 PMID:10909851 PMID:12969986 More... NCBI chr  X:14,243,684...14,256,555
Ensembl chr  X:14,244,050...14,252,030 		JBrowse link
G Gata1 GATA binding protein 1 ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:28492532 NCBI chr  X:14,529,706...14,537,530
Ensembl chr  X:14,529,702...14,537,530 		JBrowse link
G Glod5 glyoxalase domain containing 5 ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:28492532 NCBI chr  X:14,473,994...14,488,797
Ensembl chr  X:14,473,994...14,488,683 		JBrowse link
G Gpkow G patch domain and KOW motifs ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:28492532 NCBI chr  X:14,791,601...14,806,384
Ensembl chr  X:14,791,610...14,806,384 		JBrowse link
G Gripap1 GRIP1 associated protein 1 ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:28492532 NCBI chr  X:14,678,896...14,708,747
Ensembl chr  X:14,678,898...14,708,679 		JBrowse link
G Hdac6 histone deacetylase 6 ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:28492532 NCBI chr  X:14,550,645...14,572,445
Ensembl chr  X:14,551,044...14,572,441 		JBrowse link
G Jade3 jade family PHD finger 3 ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:8530058 PMID:9476131 PMID:10698340 PMID:10909851 PMID:12969986 More... NCBI chr  X:1,668,873...1,848,781
Ensembl chr  X:1,669,930...1,845,138 		JBrowse link
G Kcnd1 potassium voltage-gated channel subfamily D member 1 ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:28492532 NCBI chr  X:14,661,688...14,678,745
Ensembl chr  X:14,662,357...14,677,233 		JBrowse link
G Magix MAGI family member, X-linked ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:28492532 NCBI chr  X:14,824,114...14,832,466
Ensembl chr  X:14,824,188...14,831,045 		JBrowse link
G Mir500 microRNA 500 ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:28492532 NCBI chr  X:15,258,778...15,258,857
Ensembl chr  X:15,258,768...15,258,859 		JBrowse link
G Mir532 microRNA 532 ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:28492532 NCBI chr  X:15,247,315...15,247,393
Ensembl chr  X:15,247,315...15,247,393 		JBrowse link
G Ndufb11 NADH:ubiquinone oxidoreductase subunit B11 ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:8530058 PMID:9476131 PMID:10698340 PMID:10909851 PMID:12969986 More... NCBI chr  X:1,572,805...1,575,063
Ensembl chr  X:1,572,785...1,575,062 		JBrowse link
G Nudt11 nudix hydrolase 11 ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:28492532 NCBI chr  X:16,326,775...16,333,396
Ensembl chr  X:16,326,598...16,333,145 		JBrowse link
G Otud5 OTU deubiquitinase 5 ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:28492532 NCBI chr  X:14,626,173...14,659,331
Ensembl chr  X:14,626,164...14,659,573 		JBrowse link
G Pcsk1n proprotein convertase subtilisin/kexin type 1 inhibitor ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:28492532 NCBI chr  X:14,580,036...14,583,478
Ensembl chr  X:14,580,038...14,583,566 		JBrowse link
G Pim2 Pim-2 proto-oncogene, serine/threonine kinase ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:28492532 NCBI chr  X:14,617,582...14,622,851
Ensembl chr  X:14,617,582...14,622,851 		JBrowse link
G Plp2 proteolipid protein 2 ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:28492532 NCBI chr  X:14,834,249...14,837,648
Ensembl chr  X:14,834,231...14,838,514 		JBrowse link
G Porcn porcupine O-acyltransferase ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:8530058 PMID:9476131 PMID:10698340 PMID:10909851 PMID:12969986 More... NCBI chr  X:14,285,864...14,298,481
Ensembl chr  X:14,285,871...14,298,481 		JBrowse link
G Ppp1r3f protein phosphatase 1, regulatory subunit 3F ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:28492532 NCBI chr  X:14,915,740...14,945,249
Ensembl chr  X:14,929,323...14,945,193 		JBrowse link
G Pqbp1 polyglutamine binding protein 1 ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:28492532 NCBI chr  X:14,603,516...14,608,091
Ensembl chr  X:14,603,539...14,608,087 		JBrowse link
G Praf2 PRA1 domain family, member 2 ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:28492532 NCBI chr  X:14,773,398...14,776,035
Ensembl chr  X:14,773,420...14,775,909 		JBrowse link
G Prickle3 prickle planar cell polarity protein 3 ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:28492532 NCBI chr  X:14,837,647...14,849,305
Ensembl chr  X:14,837,650...14,848,218 		JBrowse link
G Rbm10 RNA binding motif protein 10 ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:8530058 PMID:9476131 PMID:10698340 PMID:10909851 PMID:12969986 More... NCBI chr  X:1,540,399...1,572,571
Ensembl chr  X:1,540,398...1,572,575 		JBrowse link
G Rbm3 RNA binding motif protein 3 ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:8530058 PMID:9476131 PMID:10698340 PMID:10909851 PMID:12969986 More... NCBI chr  X:14,348,909...14,352,387
Ensembl chr  X:14,348,910...14,353,580 		JBrowse link
G Rgn regucalcin ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:8530058 PMID:9476131 PMID:10698340 PMID:10909851 PMID:12969986 More... NCBI chr  X:1,619,030...1,634,456
Ensembl chr  X:1,619,032...1,634,450 		JBrowse link
G Rp2 RP2 activator of ARL3 GTPase ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:8530058 PMID:9476131 PMID:10698340 PMID:10909851 PMID:12969986 More... NCBI chr  X:1,872,582...1,916,704
Ensembl chr  X:1,873,306...1,916,688 		JBrowse link
G Shroom4 shroom family member 4 ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:28492532 NCBI chr  X:15,869,065...16,076,850
Ensembl chr  X:15,869,065...16,076,869 		JBrowse link
G Slc35a2 solute carrier family 35 member A2 ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:28492532 NCBI chr  X:14,608,145...14,616,937
Ensembl chr  X:14,608,055...14,616,678 		JBrowse link
G Slc38a5 solute carrier family 38, member 5 ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:8530058 PMID:9476131 PMID:10698340 PMID:10909851 PMID:12969986 More... NCBI chr  X:14,213,727...14,222,498
Ensembl chr  X:14,213,729...14,222,498 		JBrowse link
G Slc9a7 solute carrier family 9 member A7 ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:8530058 PMID:9476131 PMID:10698340 PMID:10909851 PMID:12969986 More... NCBI chr  X:2,214,064...2,395,052
Ensembl chr  X:2,214,441...2,388,012 		JBrowse link
G Spaca5 sperm acrosome associated 5 ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:8530058 PMID:9476131 PMID:10698340 PMID:10909851 PMID:12969986 More... NCBI chr  X:918,817...922,000
Ensembl chr  X:918,817...922,049 		JBrowse link
G Ssx1 SSX family member 1 ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:8530058 PMID:9476131 PMID:10698340 PMID:10909851 PMID:12969986 More... NCBI chr  X:13,931,433...13,939,732
Ensembl chr  X:13,931,470...13,939,720 		JBrowse link
G Suv39h1 SUV39H1 histone lysine methyltransferase ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:28492532 NCBI chr  X:14,421,028...14,433,993
Ensembl chr  X:14,421,109...14,433,982 		JBrowse link
G Suv39h1-ps1 SUV39H1 histone lysine methyltransferase, pseudogene 1 ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:28492532 NCBI chr  X:141,792,589...141,795,257 JBrowse link
G Syn1 synapsin I ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:8530058 PMID:9476131 PMID:10698340 PMID:10909851 PMID:12969986 More... NCBI chr  X:1,172,208...1,227,400
Ensembl chr  X:1,172,208...1,227,396 		JBrowse link
G Syp synaptophysin ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:28492532 NCBI chr  X:14,849,444...14,864,553
Ensembl chr  X:14,849,444...14,864,745 		JBrowse link
G Tbc1d25 TBC1 domain family, member 25 ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:8530058 PMID:9476131 PMID:10698340 PMID:10909851 PMID:12969986 More... NCBI chr  X:14,314,095...14,339,171
Ensembl chr  X:14,314,414...14,338,275 		JBrowse link
G Tfe3 transcription factor binding to IGHM enhancer 3 ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:28492532 NCBI chr  X:14,729,547...14,742,830
Ensembl chr  X:14,729,550...14,742,571 		JBrowse link
G Timm17b translocase of inner mitochondrial membrane 17b ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:28492532 NCBI chr  X:14,596,330...14,603,491
Ensembl chr  X:14,594,577...14,603,416 		JBrowse link
G Timp1 TIMP metallopeptidase inhibitor 1 ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:8530058 PMID:9476131 PMID:10698340 PMID:10909851 PMID:12969986 More... NCBI chr  X:1,212,969...1,217,714
Ensembl chr  X:1,212,972...1,217,664 		JBrowse link
G Uba1 ubiquitin-like modifier activating enzyme 1 ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:8530058 PMID:9476131 PMID:10698340 PMID:10909851 PMID:12969986 More... NCBI chr  X:1,508,700...1,530,677
Ensembl chr  X:1,508,666...1,530,636 		JBrowse link
G Usp11 ubiquitin specific peptidase 11 ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:8530058 PMID:9476131 PMID:10698340 PMID:10909851 PMID:12969986 More... NCBI chr  X:1,473,349...1,489,520
Ensembl chr  X:1,473,350...1,489,520 		JBrowse link
G Usp27x ubiquitin specific peptidase 27, X-linked ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:28492532 NCBI chr  X:15,123,620...15,126,855
Ensembl chr  X:15,124,596...15,125,912 		JBrowse link
G Uxt ubiquitously-expressed, prefoldin-like chaperone ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:8530058 PMID:9476131 PMID:10698340 PMID:10909851 PMID:12969986 More... NCBI chr  X:1,126,110...1,138,670
Ensembl chr  X:1,126,162...1,138,663 		JBrowse link
G Was WASP actin nucleation promoting factor ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:3284030 PMID:7579329 PMID:7579347 PMID:7753869 PMID:7795648 More... NCBI chr  X:14,405,105...14,413,850
Ensembl chr  X:14,405,124...14,413,849 		JBrowse link
G Wdr13 WD repeat domain 13 ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:8530058 PMID:9476131 PMID:10698340 PMID:10909851 PMID:12969986 More... NCBI chr  X:14,362,484...14,373,727
Ensembl chr  X:14,362,860...14,373,727 		JBrowse link
G Wdr45 WD repeat domain 45 ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:28492532 NCBI chr  X:14,776,280...14,782,202
Ensembl chr  X:14,776,293...14,782,202 		JBrowse link
G Zfp157 zinc finger protein 157 ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:8530058 PMID:9476131 PMID:10698340 PMID:10909851 PMID:12969986 More... NCBI chr12:16,248,230...16,279,459
Ensembl chr12:16,248,230...16,270,698 		JBrowse link
G Zfp182 zinc finger protein 182 ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:8530058 PMID:9476131 PMID:10698340 PMID:10909851 PMID:12969986 More... NCBI chr  X:927,439...1,001,474
Ensembl chr  X:899,439...1,000,954 		JBrowse link
G Znf81 zinc finger protein 81 ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:8530058 PMID:9476131 PMID:10698340 PMID:10909851 PMID:12969986 More... NCBI chr  X:1,030,103...1,126,078
Ensembl chr  X:1,036,153...1,126,102 		JBrowse link
XEROSIS AND GROWTH FAILURE WITH IMMUNE AND PULMONARY DYSFUNCTION SYNDROME term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dbr1 debranching RNA lariats 1 ISO ClinVar Annotator: match by term: Xerosis and growth failure with immune and pulmonary dysfunction syndrome ClinVar
OMIM		 PMID:25741868 PMID:37656279 NCBI chr 8:100,139,039...100,150,768
Ensembl chr 8:100,139,034...100,151,030 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      hematopoietic system disease 3339
        leukocyte disease 1308
          Abnormal Neutrophil Chemotactic Response 0
          B-cell lymphoma + 348
          Cd4+ Lymphocyte Deficiency 1
          Eosinophilia + 58
          IMMUNODEFICIENCY 108 WITH AUTOINFLAMMATION 1
          Lazy Leukocyte Syndrome 1
          Leukocyte Nuclear Appendages, Hereditary Prevalence of 0
          Leukocytosis + 29
          Monocyte Esterase Deficiency 1
          Neurodevelopmental Disorder with Facial Dysmorphism, Absent Language, and Pseudo-Pelger-Huet Anomaly 1
          Neutrophil Actin Dysfunction 0
          Pelger-Huet anomaly + 2
          Phagocytosis, Plasma-Related Defect in 0
          Presentey Anomaly 1
          Specific Granule Deficiency + 74
          T-Cell OKT4 Deficiency 1
          Undritz Anomaly 0
          acidophil adenoma 0
          aggressive NK-cell leukemia 0
          basophil adenoma 0
          basophilic adenocarcinoma 0
          dendritic cell sarcoma + 1
          hereditary neutrophilia 1
          ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis 2
          immunodeficiency 32B 5
          immunodeficiency 7 0
          infectious mononucleosis 8
          leukocyte adhesion deficiency + 168
          leukopenia + 559
          leukostasis 5
          mastocytosis + 9
          phagocyte bactericidal dysfunction + 145
Path 2
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      Hemic and Lymphatic Diseases 3849
        hematopoietic system disease 3339
          leukocyte disease 1308
            Abnormal Neutrophil Chemotactic Response 0
            B-cell lymphoma + 348
            Cd4+ Lymphocyte Deficiency 1
            Eosinophilia + 58
            IMMUNODEFICIENCY 108 WITH AUTOINFLAMMATION 1
            Lazy Leukocyte Syndrome 1
            Leukocyte Nuclear Appendages, Hereditary Prevalence of 0
            Leukocytosis + 29
            Monocyte Esterase Deficiency 1
            Neurodevelopmental Disorder with Facial Dysmorphism, Absent Language, and Pseudo-Pelger-Huet Anomaly 1
            Neutrophil Actin Dysfunction 0
            Pelger-Huet anomaly + 2
            Phagocytosis, Plasma-Related Defect in 0
            Presentey Anomaly 1
            Specific Granule Deficiency + 74
            T-Cell OKT4 Deficiency 1
            Undritz Anomaly 0
            acidophil adenoma 0
            aggressive NK-cell leukemia 0
            basophil adenoma 0
            basophilic adenocarcinoma 0
            dendritic cell sarcoma + 1
            hereditary neutrophilia 1
            ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis 2
            immunodeficiency 32B 5
            immunodeficiency 7 0
            infectious mononucleosis 8
            leukocyte adhesion deficiency + 168
            leukopenia + 559
            leukostasis 5
            mastocytosis + 9
            phagocyte bactericidal dysfunction + 145
paths to the root