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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

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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 ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:28492532 NCBI chrNW_004955543:1,358,086...1,367,838
Ensembl chrNW_004955543:1,357,997...1,367,897 		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 chrNW_004955516:521,479...532,980
Ensembl chrNW_004955516:521,479...533,212 		JBrowse link
G Bmp15 bone morphogenetic protein 15 ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:28492532 NCBI chrNW_004955543:2,304,112...2,345,376
Ensembl chrNW_004955543:2,339,659...2,345,406 		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 chrNW_004955543:692,035...717,364
Ensembl chrNW_004955543:692,035...717,364 		JBrowse link
G Ccdc120 coiled-coil domain containing 120 ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:28492532 NCBI chrNW_004955543:577,078...594,076
Ensembl chrNW_004955543:587,321...592,544 		JBrowse link
G Ccdc22 coiled-coil domain containing 22 ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:28492532 NCBI chrNW_004955543:719,185...731,788
Ensembl chrNW_004955543:718,996...733,753 		JBrowse link
G Ccnb3 cyclin B3 ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:28492532 NCBI chrNW_004955543:1,377,932...1,444,327 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 chrNW_004955516:860,474...873,338
Ensembl chrNW_004955516:860,480...873,338 		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 chrNW_004955516:449,993...455,897
Ensembl chrNW_004955516:449,993...456,492 		JBrowse link
G Clcn5 chloride voltage-gated channel 5 ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:28492532 NCBI chrNW_004955543:1,076,988...1,256,352
Ensembl chrNW_004955543:1,077,007...1,250,352 		JBrowse link
G Dgkk diacylglycerol kinase kappa ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:28492532 NCBI chrNW_004955543:1,468,328...1,601,101
Ensembl chrNW_004955543:1,468,328...1,601,101 		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 chrNW_004955543:92,553...98,370
Ensembl chrNW_004955543:92,122...98,370 		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 chrNW_004955516:431,081...444,871
Ensembl chrNW_004955516:430,775...444,871 		JBrowse link
G Eras ES cell expressed Ras ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:28492532 NCBI chrNW_004955543:381,756...383,093 JBrowse link
G Foxp3 forkhead box P3 ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:28492532 NCBI chrNW_004955543:731,707...742,606
Ensembl chrNW_004955543:731,707...742,606 		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 chrNW_004955543:42,524...49,835
Ensembl chrNW_004955543:40,728...53,111 		JBrowse link
G Gata1 GATA binding protein 1 ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:28492532 NCBI chrNW_004955543:334,581...342,042
Ensembl chrNW_004955543:334,061...342,061 		JBrowse link
G Glod5 glyoxalase domain containing 5 ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:28492532 NCBI chrNW_004955543:320,087...321,311
Ensembl chrNW_004955543:319,985...323,393 		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 chrNW_004955543:625,247...633,065 JBrowse link
G Gripap1 GRIP1 associated protein 1 ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:28492532 NCBI chrNW_004955543:500,340...527,243
Ensembl chrNW_004955543:500,340...527,267 		JBrowse link
G Hdac6 histone deacetylase 6 ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:28492532 NCBI chrNW_004955543:348,314...378,391
Ensembl chrNW_004955543:348,019...378,071 		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 chrNW_004955516:998,854...1,133,013
Ensembl chrNW_004955516:998,725...1,061,279 		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 chrNW_004955543:487,312...500,232
Ensembl chrNW_004955543:487,312...498,626 		JBrowse link
G LOC102018844 neutrophil elastase ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:24033266 NCBI chrNW_004955495:6,964,577...6,967,208
Ensembl chrNW_004955495:6,964,667...6,967,106 		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 chrNW_004955516:934,740...937,207
Ensembl chrNW_004955516:934,740...937,207 		JBrowse link
G Otud5 OTU deubiquitinase 5 ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:28492532 NCBI chrNW_004955543:452,172...484,564
Ensembl chrNW_004955543:452,121...484,560 		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 chrNW_004955543:383,984...387,885
Ensembl chrNW_004955543:384,123...387,744 		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 chrNW_004955543:444,314...449,201
Ensembl chrNW_004955543:444,314...449,201 		JBrowse link
G Plp2 proteolipid protein 2 ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:28492532 NCBI chrNW_004955543:658,617...662,441
Ensembl chrNW_004955543:658,486...662,441 		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 chrNW_004955543:75,870...91,575
Ensembl chrNW_004955543:75,875...91,975 		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 chrNW_004955543:750,094...767,894
Ensembl chrNW_004955543:750,323...766,797 		JBrowse link
G Pqbp1 polyglutamine binding protein 1 ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:28492532 NCBI chrNW_004955543:430,324...434,205
Ensembl chrNW_004955543:430,853...434,205 		JBrowse link
G Praf2 PRA1 domain family member 2 ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:28492532 NCBI chrNW_004955543:594,662...597,695
Ensembl chrNW_004955543:594,606...598,264 		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 chrNW_004955543:662,438...673,386
Ensembl chrNW_004955543:662,438...673,662 		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 chrNW_004955516:904,852...934,313
Ensembl chrNW_004955516:904,062...934,313 		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 chrNW_004955543:166,891...173,987
Ensembl chrNW_004955543:166,891...170,488 		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 chrNW_004955516:958,416...978,829
Ensembl chrNW_004955516:955,680...978,910 		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 chrNW_004955516:1,160,148...1,193,540 JBrowse link
G Shroom4 shroom family member 4 ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:28492532 NCBI chrNW_004955543:1,810,125...2,046,144 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 chrNW_004955543:434,265...443,460
Ensembl chrNW_004955543:434,405...443,508 		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 chrNW_004955543:15,968...24,644
Ensembl chrNW_004955543:16,089...24,668 		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 chrNW_004955516:1,286,070...1,428,789
Ensembl chrNW_004955516:1,286,070...1,428,789 		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 chrNW_004955516:103,674...106,082 JBrowse link
G Suv39h1 SUV39H1 histone lysine methyltransferase ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:28492532 NCBI chrNW_004955543:258,479...271,128
Ensembl chrNW_004955543:258,479...272,473 		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 chrNW_004955516:460,258...521,484
Ensembl chrNW_004955516:460,198...521,484 		JBrowse link
G Syp synaptophysin ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:28492532 NCBI chrNW_004955543:675,294...689,579
Ensembl chrNW_004955543:675,294...689,686 		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 chrNW_004955543:127,314...154,235
Ensembl chrNW_004955543:127,162...154,235 		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 chrNW_004955543:547,037...561,073
Ensembl chrNW_004955543:547,037...561,073 		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 chrNW_004955543:425,076...430,767
Ensembl chrNW_004955543:425,076...430,767 		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 chrNW_004955516:507,113...511,360
Ensembl chrNW_004955516:505,789...512,118 		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 chrNW_004955516:876,542...898,763
Ensembl chrNW_004955516:876,354...891,206 		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 chrNW_004955516:840,708...858,201
Ensembl chrNW_004955516:841,114...857,322 		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 chrNW_004955543:1,023,931...1,027,048 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 chrNW_004955516:421,402...429,804
Ensembl chrNW_004955516:420,616...430,134 		JBrowse link
G Was WASP actin nucleation promoting factor ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia OMIM
ClinVar		 PMID:3284030 PMID:7579329 PMID:7579347 PMID:7753869 PMID:7795648 More... NCBI chrNW_004955543:243,618...253,489
Ensembl chrNW_004955543:247,631...253,274 		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 chrNW_004955543:182,279...190,435
Ensembl chrNW_004955543:182,279...190,435 		JBrowse link
G Wdr45 WD repeat domain 45 ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:28492532 NCBI chrNW_004955543:597,796...604,163
Ensembl chrNW_004955543:597,814...603,963 		JBrowse link
G Znf157 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 chrNW_004955516:692,871...727,103
Ensembl chrNW_004955516:692,871...727,103 		JBrowse link
G Znf182 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 chrNW_004955516:93,596...148,739 JBrowse link
G Znf41 zinc finger protein 41 ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:8530058 PMID:9476131 PMID:10698340 PMID:10909851 PMID:12969986 More... NCBI chrNW_004955516:611,591...646,109 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 chrNW_004955516:215,370...312,684
Ensembl chrNW_004955516:219,262...248,215 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14316
    physical disorder 4819
      severe congenital neutropenia 271
        X-linked severe congenital neutropenia 61
Path 2
Term Annotations click to browse term
  disease 14316
    disease of anatomical entity 14023
      Hemic and Lymphatic Diseases 3821
        hematopoietic system disease 3372
          leukocyte disease 1176
            leukopenia 474
              agranulocytosis 439
                neutropenia 436
                  severe congenital neutropenia 271
                    X-linked severe congenital neutropenia 61
paths to the root