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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:X-linked severe congenital neutropenia
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Accession:DOID:0112128 term browser browse the term
Definition:A severe congenital neutropenia that has_material_basis_in hemizygous activating mutation in WAS on chromosome Xp11.23. (DO)
Synonyms:exact_synonym: SCNX;   XLN
 primary_id: MESH:C564539
 alt_id: MIM:300299
 xref: GARD:3981;   NCI:C176818


show annotations for term's descendants           Sort by:
X-linked severe congenital neutropenia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AKAP4 A-kinase anchoring protein 4 IAGP ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:28492532 NCBI chr  X:50,190,777...50,201,007
Ensembl chr  X:50,190,777...50,201,007 		JBrowse link
G ARAF A-Raf proto-oncogene, serine/threonine kinase IAGP 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:47,561,205...47,571,908
Ensembl chr  X:47,561,205...47,571,908 		JBrowse link
G BMP15 bone morphogenetic protein 15 IAGP ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:28492532 NCBI chr  X:50,910,735...50,916,641
Ensembl chr  X:50,910,735...50,916,641 		JBrowse link
G CACNA1F calcium voltage-gated channel subunit alpha1 F IAGP ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:28492532 NCBI chr  X:49,205,063...49,233,340
Ensembl chr  X:49,205,063...49,233,371 		JBrowse link
G CCDC120 coiled-coil domain containing 120 IAGP ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:28492532 NCBI chr  X:49,053,572...49,069,858
Ensembl chr  X:49,053,572...49,069,857 		JBrowse link
G CCDC22 coiled-coil domain containing 22 IAGP ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:28492532 NCBI chr  X:49,235,470...49,250,520
Ensembl chr  X:49,235,470...49,250,520 		JBrowse link
G CCNB3 cyclin B3 IAGP ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:28492532 NCBI chr  X:50,202,713...50,351,914
Ensembl chr  X:50,202,713...50,351,914 		JBrowse link
G CDK16 cyclin dependent kinase 16 IAGP 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:47,218,303...47,229,997
Ensembl chr  X:47,217,860...47,229,997 		JBrowse link
G CFP complement factor properdin IAGP 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:47,623,282...47,630,305
Ensembl chr  X:47,623,172...47,630,305 		JBrowse link
G CLCN5 chloride voltage-gated channel 5 IAGP ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:28492532 NCBI chr  X:49,922,596...50,099,230
Ensembl chr  X:49,922,596...50,099,235 		JBrowse link
G DGKK diacylglycerol kinase kappa IAGP ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:28492532 NCBI chr  X:50,365,409...50,470,825
Ensembl chr  X:50,365,409...50,470,825 		JBrowse link
G EBP EBP cholestenol delta-isomerase IAGP 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:48,521,808...48,528,716
Ensembl chr  X:48,521,799...48,528,716 		JBrowse link
G ELANE elastase, neutrophil expressed IAGP ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:24033266 NCBI chr19:852,303...856,243
Ensembl chr19:851,014...856,247 		JBrowse link
G ELK1 ETS transcription factor ELK1 IAGP 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:47,635,520...47,650,604
Ensembl chr  X:47,635,520...47,650,604 		JBrowse link
G ERAS ES cell expressed Ras IAGP ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:28492532 NCBI chr  X:48,826,513...48,829,869
Ensembl chr  X:48,826,513...48,830,138 		JBrowse link
G FOXP3 forkhead box P3 IAGP ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:28492532 NCBI chr  X:49,250,438...49,264,710
Ensembl chr  X:49,250,438...49,264,800 		JBrowse link
G FTSJ1 FtsJ RNA 2'-O-methyltransferase 1 IAGP 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:48,476,021...48,486,364
Ensembl chr  X:48,476,021...48,486,364 		JBrowse link
G GAGE1 G antigen 1 IAGP ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:28492532 NCBI chr  X:49,599,013...49,608,538
Ensembl chr  X:49,599,020...49,608,538 		JBrowse link
G GAGE12B G antigen 12B IAGP ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:28492532 NCBI chr  X:49,341,164...49,529,982
Ensembl chr  X:49,529,869...49,529,985
Ensembl chr  X:49,529,869...49,529,985 		JBrowse link
G GAGE12C G antigen 12C IAGP ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:28492532 NCBI chr  X:49,532,177...49,539,538
Ensembl chr  X:49,532,177...49,539,538 		JBrowse link
G GAGE12D G antigen 12D IAGP ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:28492532 NCBI chr  X:49,541,733...49,549,094
Ensembl chr  X:49,541,733...49,549,094 		JBrowse link
G GAGE12E G antigen 12E IAGP ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:28492532 NCBI chr  X:49,551,289...49,558,645
Ensembl chr  X:49,551,289...49,558,645 		JBrowse link
G GAGE12F G antigen 12F IAGP ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:28492532 NCBI chr  X:49,560,842...49,568,205
Ensembl chr  X:49,551,278...49,568,218 		JBrowse link
G GAGE12G G antigen 12G IAGP ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:28492532 NCBI chr  X:49,570,397...49,577,757
Ensembl chr  X:49,570,400...49,577,754 		JBrowse link
G GAGE12H G antigen 12H IAGP ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:28492532 NCBI chr  X:49,579,949...49,587,301
Ensembl chr  X:49,579,949...49,587,301 		JBrowse link
G GAGE12I G antigen 12I IAGP ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:28492532 NCBI chr  X:49,341,210...49,529,985
Ensembl chr  X:49,551,278...49,568,218
Ensembl chr  X:49,551,278...49,568,218 		JBrowse link
G GAGE12J G antigen 12J IAGP ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:28492532 NCBI chr  X:49,322,037...49,329,384
Ensembl chr  X:49,322,037...49,329,384 		JBrowse link
G GAGE13 G antigen 13 IAGP ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:28492532 NCBI chr  X:49,331,582...49,338,949
Ensembl chr  X:49,331,582...49,338,949 		JBrowse link
G GAGE2A G antigen 2A IAGP ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:28492532 NCBI chr  X:49,589,496...49,596,824
Ensembl chr  X:49,589,496...49,596,824 		JBrowse link
G GAGE2B G antigen 2B IAGP ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:28492532 NCBI chr  X:49,331,615...49,338,933 JBrowse link
G GAGE2C G antigen 2C IAGP ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:28492532 NCBI chr  X:49,331,615...49,338,962 JBrowse link
G GAGE2D G antigen 2D IAGP ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:28492532 NCBI chr  X:49,560,844...49,568,208 JBrowse link
G GAGE2E G antigen 2E IAGP ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:28492532 NCBI chr  X:49,560,886...49,568,208
Ensembl chr  X:49,341,192...49,345,922 		JBrowse link
G GAGE8 G antigen 8 IAGP ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:28492532
G GATA1 GATA binding protein 1 IAGP ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:28492532 NCBI chr  X:48,786,590...48,794,311
Ensembl chr  X:48,786,540...48,794,311 		JBrowse link
G GLOD5 glyoxalase domain containing 5 IAGP ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:28492532 NCBI chr  X:48,761,747...48,773,648
Ensembl chr  X:48,761,747...48,773,648 		JBrowse link
G GPKOW G-patch domain and KOW motifs IAGP ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:28492532 NCBI chr  X:49,113,407...49,123,735
Ensembl chr  X:49,113,407...49,123,735 		JBrowse link
G GRIPAP1 GRIP1 associated protein 1 IAGP ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:28492532 NCBI chr  X:48,973,723...49,002,264
Ensembl chr  X:48,973,720...49,002,265 		JBrowse link
G HDAC6 histone deacetylase 6 IAGP ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:28492532 NCBI chr  X:48,801,398...48,824,982
Ensembl chr  X:48,801,377...48,824,982 		JBrowse link
G INE1 inactivation escape 1 IAGP 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:47,204,848...47,205,861
Ensembl chr  X:47,204,921...47,205,865 		JBrowse link
G JADE3 jade family PHD finger 3 IAGP 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:46,912,301...47,061,242
Ensembl chr  X:46,912,276...47,061,242 		JBrowse link
G KCND1 potassium voltage-gated channel subfamily D member 1 IAGP ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:28492532 NCBI chr  X:48,961,380...48,971,844
Ensembl chr  X:48,960,982...48,971,844 		JBrowse link
G LINC01560 long intergenic non-protein coding RNA 1560 IAGP 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:47,482,716...47,485,227
Ensembl chr  X:47,483,571...47,484,823 		JBrowse link
G MAGIX MAGI family member, X-linked IAGP ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:28492532 NCBI chr  X:49,162,665...49,168,774
Ensembl chr  X:49,162,564...49,168,774 		JBrowse link
G MIR502 microRNA 502 IAGP ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:28492532 NCBI chr  X:50,014,598...50,014,683
Ensembl chr  X:50,014,598...50,014,683 		JBrowse link
G MIR532 microRNA 532 IAGP ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:28492532 NCBI chr  X:50,003,148...50,003,238
Ensembl chr  X:50,003,148...50,003,238 		JBrowse link
G NDUFB11 NADH:ubiquinone oxidoreductase subunit B11 IAGP 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:47,142,216...47,145,491
Ensembl chr  X:47,142,071...47,145,466 		JBrowse link
G NUDT10 nudix hydrolase 10 IAGP ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:28492532 NCBI chr  X:51,332,231...51,337,525
Ensembl chr  X:51,332,231...51,337,525 		JBrowse link
G NUDT11 nudix hydrolase 11 IAGP ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:28492532 NCBI chr  X:51,490,011...51,496,592
Ensembl chr  X:51,490,011...51,496,592 		JBrowse link
G OTUD5 OTU deubiquitinase 5 IAGP ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:28492532 NCBI chr  X:48,922,024...48,958,381
Ensembl chr  X:48,922,024...48,958,386 		JBrowse link
G PAGE1 PAGE family member 1 IAGP ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:28492532 NCBI chr  X:49,687,447...49,695,984
Ensembl chr  X:49,687,447...49,695,984 		JBrowse link
G PAGE4 PAGE family member 4 IAGP ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:28492532 NCBI chr  X:49,829,260...49,834,264
Ensembl chr  X:49,793,653...49,834,264 		JBrowse link
G PCSK1N proprotein convertase subtilisin/kexin type 1 inhibitor IAGP ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:28492532 NCBI chr  X:48,831,096...48,835,610
Ensembl chr  X:48,831,096...48,835,610 		JBrowse link
G PIM2 Pim-2 proto-oncogene, serine/threonine kinase IAGP ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:28492532 NCBI chr  X:48,913,182...48,919,024
Ensembl chr  X:48,913,182...48,919,024 		JBrowse link
G PLP2 proteolipid protein 2 IAGP ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:28492532 NCBI chr  X:49,171,898...49,175,235
Ensembl chr  X:49,171,898...49,175,235 		JBrowse link
G PORCN porcupine O-acyltransferase IAGP 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:48,508,992...48,520,814
Ensembl chr  X:48,508,959...48,520,814 		JBrowse link
G PPP1R3F protein phosphatase 1 regulatory subunit 3F IAGP ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:28492532 NCBI chr  X:49,269,793...49,301,469
Ensembl chr  X:49,269,793...49,301,461 		JBrowse link
G PQBP1 polyglutamine binding protein 1 IAGP ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:28492532 NCBI chr  X:48,897,930...48,903,143
Ensembl chr  X:48,890,197...48,903,402 		JBrowse link
G PRAF2 PRA1 domain family member 2 IAGP ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:28492532 NCBI chr  X:49,071,161...49,074,002
Ensembl chr  X:49,071,161...49,074,002 		JBrowse link
G PRICKLE3 prickle planar cell polarity protein 3 IAGP ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:28492532 NCBI chr  X:49,174,802...49,186,373
Ensembl chr  X:49,174,802...49,186,528 		JBrowse link
G RBM10 RNA binding motif protein 10 IAGP 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:47,145,221...47,186,813
Ensembl chr  X:47,145,221...47,186,813 		JBrowse link
G RBM3 RNA binding motif protein 3 IAGP 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:48,574,484...48,581,162
Ensembl chr  X:48,574,449...48,581,162 		JBrowse link
G RGN regucalcin IAGP 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:47,078,443...47,093,313
Ensembl chr  X:47,078,355...47,093,314 		JBrowse link
G RP2 RP2 activator of ARL3 GTPase IAGP 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:46,837,043...46,882,358
Ensembl chr  X:46,837,043...46,882,358 		JBrowse link
G SHROOM4 shroom family member 4 IAGP ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:28492532 NCBI chr  X:50,575,534...50,814,194
Ensembl chr  X:50,586,796...50,814,302 		JBrowse link
G SLC35A2 solute carrier family 35 member A2 IAGP ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:28492532 NCBI chr  X:48,903,183...48,911,958
Ensembl chr  X:48,903,180...48,911,958 		JBrowse link
G SLC38A5 solute carrier family 38 member 5 IAGP 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:48,458,544...48,470,260
Ensembl chr  X:48,458,537...48,470,260 		JBrowse link
G SLC9A7 solute carrier family 9 member A7 IAGP 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:46,599,251...46,759,118
Ensembl chr  X:46,599,251...46,759,118 		JBrowse link
G SPACA5 sperm acrosome associated 5 IAGP 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:48,004,336...48,009,733
Ensembl chr  X:48,004,336...48,009,733 		JBrowse link
G SPACA5B sperm acrosome associated 5B IAGP 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:48,130,626...48,132,620
Ensembl chr  X:48,130,626...48,132,620 		JBrowse link
G SSX1 SSX family member 1 IAGP 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:48,255,392...48,267,444
Ensembl chr  X:48,255,392...48,267,444 		JBrowse link
G SSX3 SSX family member 3 IAGP 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:48,346,427...48,356,703
Ensembl chr  X:48,346,427...48,356,707 		JBrowse link
G SSX4 SSX family member 4 IAGP 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:48,383,539...48,393,347
Ensembl chr  X:48,383,516...48,393,347
Ensembl chr  X:48,383,516...48,393,347 		JBrowse link
G SSX4B SSX family member 4B IAGP 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:48,402,082...48,411,960
Ensembl chr  X:48,402,082...48,411,960
Ensembl chr  X:48,402,082...48,411,960 		JBrowse link
G SSX5 SSX family member 5 IAGP 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:48,186,220...48,196,795
Ensembl chr  X:48,186,220...48,196,795 		JBrowse link
G SUV39H1 SUV39H1 histone lysine methyltransferase IAGP ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:28492532 NCBI chr  X:48,695,554...48,709,016
Ensembl chr  X:48,695,554...48,709,016 		JBrowse link
G SYN1 synapsin I IAGP 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:47,571,901...47,619,857
Ensembl chr  X:47,571,901...47,619,857 		JBrowse link
G SYP synaptophysin IAGP ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:28492532 NCBI chr  X:49,187,815...49,200,193
Ensembl chr  X:49,187,815...49,200,218 		JBrowse link
G TBC1D25 TBC1 domain family member 25 IAGP 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:48,539,714...48,562,609
Ensembl chr  X:48,539,714...48,562,609 		JBrowse link
G TFE3 transcription factor binding to IGHM enhancer 3 IAGP ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:28492532 NCBI chr  X:49,028,726...49,043,357
Ensembl chr  X:49,028,726...49,043,410 		JBrowse link
G TIMM17B translocase of inner mitochondrial membrane 17B IAGP ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:28492532 NCBI chr  X:48,893,447...48,898,143
Ensembl chr  X:48,893,447...48,898,143 		JBrowse link
G TIMP1 TIMP metallopeptidase inhibitor 1 IAGP 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:47,582,436...47,586,789
Ensembl chr  X:47,582,408...47,586,789 		JBrowse link
G UBA1 ubiquitin like modifier activating enzyme 1 IAGP 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:47,190,847...47,215,128
Ensembl chr  X:47,190,861...47,215,128 		JBrowse link
G USP11 ubiquitin specific peptidase 11 IAGP 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:47,233,009...47,248,328
Ensembl chr  X:47,232,866...47,248,328 		JBrowse link
G USP27X ubiquitin specific peptidase 27 X-linked IAGP ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:28492532 NCBI chr  X:49,879,484...49,882,558
Ensembl chr  X:49,879,484...49,882,558 		JBrowse link
G UXT ubiquitously expressed prefoldin like chaperone IAGP 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:47,651,796...47,659,180
Ensembl chr  X:47,651,796...47,659,180 		JBrowse link
G WAS WASP actin nucleation promoting factor IAGP
EXP		 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:48,676,636...48,691,427
Ensembl chr  X:48,676,596...48,691,431 		JBrowse link
G WDR13 WD repeat domain 13 IAGP 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:48,597,492...48,608,869
Ensembl chr  X:48,590,042...48,608,869 		JBrowse link
G WDR45 WD repeat domain 45 IAGP ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:28492532 NCBI chr  X:49,074,442...49,101,178
Ensembl chr  X:49,074,433...49,101,170 		JBrowse link
G ZNF157 zinc finger protein 157 IAGP 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:47,370,578...47,414,498
Ensembl chr  X:47,370,578...47,414,498 		JBrowse link
G ZNF182 zinc finger protein 182 IAGP 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:47,974,851...48,003,989
Ensembl chr  X:47,974,851...48,003,989 		JBrowse link
G ZNF41 zinc finger protein 41 IAGP 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:47,445,178...47,483,222
Ensembl chr  X:47,445,178...47,483,222 		JBrowse link
G ZNF630 zinc finger protein 630 IAGP 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:48,057,516...48,071,640
Ensembl chr  X:47,983,356...48,071,658 		JBrowse link
G ZNF81 zinc finger protein 81 IAGP 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:47,836,902...47,925,627
Ensembl chr  X:47,836,902...48,002,561 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 97387
    physical disorder 7971
      severe congenital neutropenia 360
        X-linked severe congenital neutropenia 94
Path 2
Term Annotations click to browse term
  disease 97387
    disease of anatomical entity 91016
      Hemic and Lymphatic Diseases 9321
        hematopoietic system disease 8439
          leukocyte disease 1918
            leukopenia 652
              agranulocytosis 593
                neutropenia 588
                  severe congenital neutropenia 360
                    X-linked severe congenital neutropenia 94
paths to the root