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: cyclic hematopoiesis
Accession: DOID:5339
browse the term
Definition: A rare disease characterized by regular 21-day cyclic fluctuations in the number of blood neutrophils, monocytes, eosinophils, lymphocytes, platelets, and reticulocytes. The recurrent severe neutropenia causes patients to experience periodic symptoms of fever, malaise, mucosal ulcers, and, rarely, life-threatening infections. (OMIM)
Synonyms: exact_synonym: cyclic agranulocytosis; cyclic leucopenia; cyclic neutropenia; cyclical neutropenia; periodic neutropenia
broad_synonym: ELANE-RELATED CONDITION
primary_id: MESH:C536227
alt_id: OMIA:000248; OMIM:162800
xref: GARD:6229 ; ICD10CM:D70.4 ; ICD9CM:288.02 ; NCI:C3820 ; ORDO:2686
For additional species annotation, visit the
Alliance of Genome Resources .
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ABCA7
ATP binding cassette subfamily A member 7
IAGP
ClinVar Annotator: match by term: Cyclical neutropenia
ClinVar
PMID:28492532
NCBI chr19:1,040,107...1,065,572
Ensembl chr19:1,039,997...1,065,572
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ABHD17A
abhydrolase domain containing 17A, depalmitoylase
IAGP
ClinVar Annotator: match by term: Cyclical neutropenia
ClinVar
PMID:28492532
NCBI chr19:1,876,810...1,885,496
Ensembl chr19:1,876,810...1,885,496
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ADAMTSL5
ADAMTS like 5
IAGP
ClinVar Annotator: match by term: Cyclical neutropenia
ClinVar
PMID:28492532
NCBI chr19:1,505,022...1,513,019
Ensembl chr19:1,505,022...1,513,604
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ADAT3
adenosine deaminase tRNA specific 3
IAGP
ClinVar Annotator: match by term: Cyclical neutropenia
ClinVar
PMID:28492532
NCBI chr19:1,905,399...1,913,447
Ensembl chr19:1,905,399...1,913,447
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AP3B1
adaptor related protein complex 3 subunit beta 1
ISO
Neutropenia, cyclic
OMIA
PMID:47249 PMID:127610 PMID:173440 PMID:336117 PMID:347941 PMID:351627 PMID:438337 PMID:568046 PMID:686147 PMID:710550 PMID:719169 PMID:738429 PMID:738763 PMID:955040 PMID:995965 PMID:1013155 PMID:1167851 PMID:1251140 PMID:1259228 PMID:1379221 PMID:1699776 PMID:1893969 PMID:2172633 PMID:2458781 PMID:2830927 PMID:2945680 PMID:2979797 PMID:3026784 PMID:3181344 PMID:3491636 PMID:3607647 PMID:3996494 PMID:4170467 PMID:4430726 PMID:4587264 PMID:4591036 PMID:4612548 PMID:4703853 PMID:4795953 PMID:4796766 PMID:4834515 PMID:5054471 PMID:5054472 PMID:5366324 PMID:5529685 PMID:5534257 PMID:5581910 PMID:6067150 PMID:6096876 PMID:6506453 PMID:6759148 PMID:6803622 PMID:6837566 PMID:6846503 PMID:6853718 PMID:6884440 PMID:6972315 PMID:6976196 PMID:7011123 PMID:7059519 PMID:7060078 PMID:7066210 PMID:7281477 PMID:7350939 PMID:7405719 PMID:7474871 PMID:7519075 PMID:7528575 PMID:8737267 PMID:12750178 PMID:12897784 PMID:15059607 PMID:15576359 PMID:16610934 PMID:17053055 PMID:18951469 PMID:19208418 PMID:19941936 PMID:22285163 PMID:22845776 PMID:35904319 PMID:37673175 More...
NCBI chr 5:78,000,522...78,294,698
Ensembl chr 5:78,000,522...78,294,762
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AP3D1
adaptor related protein complex 3 subunit delta 1
IAGP
ClinVar Annotator: match by term: Cyclical neutropenia
ClinVar
PMID:28492532
NCBI chr19:2,100,988...2,164,616
Ensembl chr19:2,100,988...2,164,468
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APC2
APC regulator of WNT signaling pathway 2
IAGP
ClinVar Annotator: match by term: Cyclical neutropenia
ClinVar
PMID:28492532
NCBI chr19:1,446,230...1,473,244
Ensembl chr19:1,446,302...1,473,244
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ARHGAP45
Rho GTPase activating protein 45
IAGP
ClinVar Annotator: match by term: Cyclical neutropenia
ClinVar
PMID:28492532
NCBI chr19:1,065,959...1,086,628
Ensembl chr19:1,065,923...1,086,628
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ARID3A
AT-rich interaction domain 3A
IAGP
ClinVar Annotator: match by term: Cyclical neutropenia
ClinVar
PMID:28492532
NCBI chr19:925,732...975,939
Ensembl chr19:925,781...975,939
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ATP5F1D
ATP synthase F1 subunit delta
IAGP
ClinVar Annotator: match by term: Cyclical neutropenia
ClinVar
PMID:28492532
NCBI chr19:1,241,751...1,244,825
Ensembl chr19:1,241,746...1,244,825
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ATP8B3
ATPase phospholipid transporting 8B3
IAGP
ClinVar Annotator: match by term: Cyclical neutropenia
ClinVar
PMID:28492532
NCBI chr19:1,782,075...1,812,276
Ensembl chr19:1,782,075...1,812,276
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AZU1
azurocidin 1
IAGP
ClinVar Annotator: match by term: Cyclical neutropenia
ClinVar
PMID:28492532
NCBI chr19:827,837...832,018
Ensembl chr19:825,097...832,018
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BTBD2
BTB domain containing 2
IAGP
ClinVar Annotator: match by term: Cyclical neutropenia
ClinVar
PMID:28492532
NCBI chr19:1,985,448...2,015,714
Ensembl chr19:1,985,438...2,034,881
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C19orf25
chromosome 19 open reading frame 25
IAGP
ClinVar Annotator: match by term: Cyclical neutropenia
ClinVar
PMID:28492532
NCBI chr19:1,473,201...1,479,215
Ensembl chr19:1,461,143...1,479,219
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CBARP
CACN subunit beta associated regulatory protein
IAGP
ClinVar Annotator: match by term: Cyclical neutropenia
ClinVar
PMID:28492532
NCBI chr19:1,228,287...1,238,502
Ensembl chr19:1,228,287...1,238,027
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CFD
complement factor D
IAGP
ClinVar Annotator: match by term: Cyclical neutropenia
ClinVar
PMID:28492532
NCBI chr19:859,664...863,641
Ensembl chr19:859,453...867,884
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CIRBP
cold inducible RNA binding protein
IAGP
ClinVar Annotator: match by term: Cyclical neutropenia
ClinVar
PMID:28492532
NCBI chr19:1,269,332...1,274,880
Ensembl chr19:1,259,384...1,274,880
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CNN2
calponin 2
IAGP
ClinVar Annotator: match by term: Cyclical neutropenia
ClinVar
PMID:28492532
NCBI chr19:1,026,608...1,039,065
Ensembl chr19:1,026,586...1,039,068
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CSNK1G2
casein kinase 1 gamma 2
IAGP
ClinVar Annotator: match by term: Cyclical neutropenia
ClinVar
PMID:28492532
NCBI chr19:1,941,172...1,981,338
Ensembl chr19:1,941,172...1,981,338
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DAZAP1
DAZ associated protein 1
IAGP
ClinVar Annotator: match by term: Cyclical neutropenia
ClinVar
PMID:28492532
NCBI chr19:1,407,586...1,435,684
Ensembl chr19:1,407,569...1,435,687
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EFNA2
ephrin A2
IAGP
ClinVar Annotator: match by term: Cyclical neutropenia
ClinVar
PMID:28492532
NCBI chr19:1,284,227...1,301,431
Ensembl chr19:1,285,873...1,301,431
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ELANE
elastase, neutrophil expressed
IAGP EXP
DNA:mutations: : ClinVar Annotator: match by term: Cyclical neutropenia ClinVar Annotator: match by term: Cyclic hematopoiesis CTD Direct Evidence: marker/mechanism
ClinVar CTD OMIM RGD
PMID:3229910 PMID:9536098 PMID:10581030 PMID:11001877 PMID:11675333 PMID:14962902 PMID:15657182 PMID:16079102 PMID:16199547 PMID:16551967 PMID:16737875 PMID:16986121 PMID:17053055 PMID:17391497 PMID:17436313 PMID:17576681 PMID:18028488 PMID:18611981 PMID:18703682 PMID:19036076 PMID:19415009 PMID:19775295 PMID:20049848 PMID:20582973 PMID:20803142 PMID:21425445 PMID:21618407 PMID:22148006 PMID:22510773 PMID:22624626 PMID:22758217 PMID:23382209 PMID:23463630 PMID:24184683 PMID:24523240 PMID:24616599 PMID:25162927 PMID:25427142 PMID:25703294 PMID:25705433 PMID:25741868 PMID:25912133 PMID:26567890 PMID:28073911 PMID:28492532 PMID:29076228 PMID:29517659 PMID:30040071 PMID:30171085 PMID:30273710 PMID:30386760 PMID:30635825 PMID:31009763 PMID:31176364 PMID:31248972 PMID:31321910 PMID:31574885 PMID:31965297 PMID:32581362 PMID:32888943 PMID:33179225 PMID:33225392 PMID:33513358 PMID:34093558 PMID:34340247 PMID:34573280 PMID:35047849 PMID:36734404 PMID:21425445 More...
RGD:10450519
NCBI chr19:852,303...856,243
Ensembl chr19:851,014...856,247
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FAM174C
family with sequence similarity 174 member C
IAGP
ClinVar Annotator: match by term: Cyclical neutropenia
ClinVar
PMID:28492532
NCBI chr19:1,275,530...1,279,228
Ensembl chr19:1,275,530...1,279,244
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FGF22
fibroblast growth factor 22
IAGP
ClinVar Annotator: match by term: Cyclical neutropenia
ClinVar
PMID:28492532
NCBI chr19:639,879...644,373
Ensembl chr19:639,879...644,373
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FSTL3
follistatin like 3
IAGP
ClinVar Annotator: match by term: Cyclical neutropenia
ClinVar
PMID:28492532
NCBI chr19:676,392...683,385
Ensembl chr19:676,392...683,392
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GAMT
guanidinoacetate N-methyltransferase
IAGP
ClinVar Annotator: match by term: Cyclical neutropenia
ClinVar
PMID:28492532
NCBI chr19:1,397,026...1,401,542
Ensembl chr19:1,397,026...1,401,570
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GPX4
glutathione peroxidase 4
IAGP
ClinVar Annotator: match by term: Cyclical neutropenia
ClinVar
PMID:28492532
NCBI chr19:1,103,994...1,106,779
Ensembl chr19:1,103,982...1,106,791
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GRIN3B
glutamate ionotropic receptor NMDA type subunit 3B
IAGP
ClinVar Annotator: match by term: Cyclical neutropenia
ClinVar
PMID:28492532
NCBI chr19:1,000,419...1,009,732
Ensembl chr19:1,000,419...1,009,732
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HCN2
hyperpolarization activated cyclic nucleotide gated potassium and sodium channel 2
IAGP
ClinVar Annotator: match by term: Cyclical neutropenia
ClinVar
PMID:28492532
NCBI chr19:589,881...617,159
Ensembl chr19:589,881...617,159
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IZUMO4
IZUMO family member 4
IAGP
ClinVar Annotator: match by term: Cyclical neutropenia
ClinVar
PMID:28492532
NCBI chr19:2,096,915...2,099,590
Ensembl chr19:2,096,429...2,099,593
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KISS1R
KISS1 receptor
IAGP
ClinVar Annotator: match by term: Cyclical neutropenia
ClinVar
PMID:28492532
NCBI chr19:917,333...921,005
Ensembl chr19:917,287...921,005
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KLF16
KLF transcription factor 16
IAGP
ClinVar Annotator: match by term: Cyclical neutropenia
ClinVar
PMID:28492532
NCBI chr19:1,852,399...1,876,536
Ensembl chr19:1,852,399...1,863,579
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MBD3
methyl-CpG binding domain protein 3
IAGP
ClinVar Annotator: match by term: Cyclical neutropenia
ClinVar
PMID:28492532
NCBI chr19:1,573,596...1,592,865
Ensembl chr19:1,573,596...1,592,865
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MED16
mediator complex subunit 16
IAGP
ClinVar Annotator: match by term: Cyclical neutropenia
ClinVar
PMID:28492532
NCBI chr19:867,963...893,187
Ensembl chr19:867,630...893,218
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MEX3D
mex-3 RNA binding family member D
IAGP
ClinVar Annotator: match by term: Cyclical neutropenia
ClinVar
PMID:28492532
NCBI chr19:1,554,672...1,568,325
Ensembl chr19:1,554,672...1,568,325
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MIDN
midnolin
IAGP
ClinVar Annotator: match by term: Cyclical neutropenia
ClinVar
PMID:28492532
NCBI chr19:1,248,583...1,259,143
Ensembl chr19:1,248,553...1,259,143
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MIR1909
microRNA 1909
IAGP
ClinVar Annotator: match by term: Cyclical neutropenia
ClinVar
PMID:28492532
NCBI chr19:1,816,159...1,816,238
Ensembl chr19:1,816,159...1,816,238
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MISP
mitotic spindle positioning
IAGP
ClinVar Annotator: match by term: Cyclical neutropenia
ClinVar
PMID:28492532
NCBI chr19:748,438...764,318
Ensembl chr19:751,112...764,318
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MKNK2
MAPK interacting serine/threonine kinase 2
IAGP
ClinVar Annotator: match by term: Cyclical neutropenia
ClinVar
PMID:28492532
NCBI chr19:2,037,471...2,051,244
Ensembl chr19:2,037,465...2,051,244
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MOB3A
MOB kinase activator 3A
IAGP
ClinVar Annotator: match by term: Cyclical neutropenia
ClinVar
PMID:28492532
NCBI chr19:2,071,036...2,096,515
Ensembl chr19:2,071,036...2,096,673
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NDUFS7
NADH:ubiquinone oxidoreductase core subunit S7
IAGP
ClinVar Annotator: match by term: Cyclical neutropenia
ClinVar
PMID:28492532
NCBI chr19:1,383,907...1,395,584
Ensembl chr19:1,383,527...1,395,589
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ONECUT3
one cut homeobox 3
IAGP
ClinVar Annotator: match by term: Cyclical neutropenia
ClinVar
PMID:28492532
NCBI chr19:1,753,506...1,780,988
Ensembl chr19:1,753,506...1,780,988
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PALM
paralemmin
IAGP
ClinVar Annotator: match by term: Cyclical neutropenia
ClinVar
PMID:28492532
NCBI chr19:708,935...748,329
Ensembl chr19:708,935...748,329
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PCSK4
proprotein convertase subtilisin/kexin type 4
IAGP
ClinVar Annotator: match by term: Cyclical neutropenia
ClinVar
PMID:28492532
NCBI chr19:1,481,428...1,490,876
Ensembl chr19:1,481,428...1,490,752
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PLK5
polo like kinase 5 (inactive)
IAGP
ClinVar Annotator: match by term: Cyclical neutropenia
ClinVar
PMID:28492532
NCBI chr19:1,524,077...1,536,046
Ensembl chr19:1,508,023...1,536,046
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PLPPR3
phospholipid phosphatase related 3
IAGP
ClinVar Annotator: match by term: Cyclical neutropenia
ClinVar
PMID:28492532
NCBI chr19:812,488...823,797
Ensembl chr19:812,488...821,955
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POLR2E
RNA polymerase II, I and III subunit E
IAGP
ClinVar Annotator: match by term: Cyclical neutropenia
ClinVar
PMID:28492532
NCBI chr19:1,086,574...1,095,375
Ensembl chr19:1,086,574...1,095,380
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POLRMT
RNA polymerase mitochondrial
IAGP
ClinVar Annotator: match by term: Cyclical neutropenia
ClinVar
PMID:28492532
NCBI chr19:617,221...633,537
Ensembl chr19:617,221...633,537
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PRSS57
serine protease 57
IAGP
ClinVar Annotator: match by term: Cyclical neutropenia
ClinVar
PMID:28492532
NCBI chr19:685,546...695,452
Ensembl chr19:685,546...695,498
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PRTN3
proteinase 3
IAGP
ClinVar Annotator: match by term: Cyclical neutropenia
ClinVar
PMID:28492532
NCBI chr19:840,999...848,175
Ensembl chr19:840,999...848,175
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PTBP1
polypyrimidine tract binding protein 1
IAGP
ClinVar Annotator: match by term: Cyclical neutropenia
ClinVar
PMID:28492532
NCBI chr19:797,452...812,312
Ensembl chr19:797,075...812,327
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PWWP3A
PWWP domain containing 3A, DNA repair factor
IAGP
ClinVar Annotator: match by term: Cyclical neutropenia
ClinVar
PMID:28492532
NCBI chr19:1,354,959...1,378,429
Ensembl chr19:1,354,711...1,378,431
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R3HDM4
R3H domain containing 4
IAGP
ClinVar Annotator: match by term: Cyclical neutropenia
ClinVar
PMID:28492532
NCBI chr19:896,503...913,219
Ensembl chr19:896,503...913,245
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REEP6
receptor accessory protein 6
IAGP
ClinVar Annotator: match by term: Cyclical neutropenia
ClinVar
PMID:28492532
NCBI chr19:1,491,181...1,497,927
Ensembl chr19:1,491,166...1,497,927
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REXO1
RNA exonuclease 1 homolog
IAGP
ClinVar Annotator: match by term: Cyclical neutropenia
ClinVar
PMID:28492532
NCBI chr19:1,815,248...1,848,483
Ensembl chr19:1,815,248...1,848,483
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RNF126
ring finger protein 126
IAGP
ClinVar Annotator: match by term: Cyclical neutropenia
ClinVar
PMID:28492532
NCBI chr19:647,526...663,214
Ensembl chr19:647,526...663,233
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RPS15
ribosomal protein S15
IAGP
ClinVar Annotator: match by term: Cyclical neutropenia
ClinVar
PMID:28492532
NCBI chr19:1,438,396...1,440,495
Ensembl chr19:1,438,358...1,440,495
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SBNO2
strawberry notch homolog 2
IAGP
ClinVar Annotator: match by term: Cyclical neutropenia
ClinVar
PMID:28492532
NCBI chr19:1,107,638...1,174,268
Ensembl chr19:1,107,637...1,174,268
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SCAMP4
secretory carrier membrane protein 4
IAGP
ClinVar Annotator: match by term: Cyclical neutropenia
ClinVar
PMID:28492532
NCBI chr19:1,905,399...1,926,013
Ensembl chr19:1,905,214...1,926,013
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STK11
serine/threonine kinase 11
IAGP
ClinVar Annotator: match by term: Cyclical neutropenia
ClinVar
PMID:28492532
NCBI chr19:1,205,778...1,228,431
Ensembl chr19:1,177,558...1,228,431
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TCF3
transcription factor 3
IAGP
ClinVar Annotator: match by term: Cyclical neutropenia
ClinVar
PMID:28492532
NCBI chr19:1,609,292...1,652,615
Ensembl chr19:1,609,291...1,652,615
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TMEM259
transmembrane protein 259
IAGP
ClinVar Annotator: match by term: Cyclical neutropenia
ClinVar
PMID:28492532
NCBI chr19:1,009,653...1,021,123
Ensembl chr19:1,009,648...1,021,179
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UQCR11
ubiquinol-cytochrome c reductase, complex III subunit XI
IAGP
ClinVar Annotator: match by term: Cyclical neutropenia
ClinVar
PMID:28492532
NCBI chr19:1,597,169...1,605,462
Ensembl chr19:1,597,169...1,605,473
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WDR18
WD repeat domain 18
IAGP
ClinVar Annotator: match by term: Cyclical neutropenia
ClinVar
PMID:28492532
NCBI chr19:982,928...994,557
Ensembl chr19:984,332...998,438
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