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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:neutropenia
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Accession:DOID:1227 term browser browse the term
Definition:A decrease in the number of NEUTROPHILS found in the blood.
Synonyms:exact_synonym: neutropenias
 primary_id: MESH:D009503
 xref: ICD10CM:D70;   ICD9CM:288.0;   NCI:C80520
For additional species annotation, visit the Alliance of Genome Resources.

GViewer not supported for the selected species.

show annotations for term's descendants           Sort by:
neutropenia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcb1 ATP binding cassette subfamily B member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16950614 PMID:25007187 NCBI chrNW_004936763:1,225,355...1,308,257
Ensembl chrNW_004936763:1,226,482...1,297,427 		JBrowse link
G Ankrd11 ankyrin repeat domain containing 11 ISO ClinVar Annotator: match by term: Neutropenia ClinVar NCBI chrNW_004936641:569,002...661,935
Ensembl chrNW_004936641:627,398...661,137 		JBrowse link
G Ap3b1 adaptor related protein complex 3 subunit beta 1 ISO RGD PMID:12125811 RGD:1578409 NCBI chrNW_004936549:5,964,240...6,205,245
Ensembl chrNW_004936549:5,965,143...6,204,379 		JBrowse link
G Atp6ap1 ATPase H+ transporting accessory protein 1 ISO ClinVar Annotator: match by term: Neutropenia ClinVar PMID:28492532 NCBI chrNW_004936809:1,179,507...1,188,172
Ensembl chrNW_004936809:1,179,464...1,188,283 		JBrowse link
G C5 complement C5 ISO RGD PMID:10188960 PMID:10516626 RGD:1600665 RGD:5130180 NCBI chrNW_004936487:9,391,774...9,474,168
Ensembl chrNW_004936487:9,391,804...9,474,159 		JBrowse link
G C5ar1 complement C5a receptor 1 ISO RGD PMID:10516626 RGD:5130180 NCBI chrNW_004936664:1,026,216...1,033,438
Ensembl chrNW_004936664:1,032,304...1,033,374 		JBrowse link
G Ccnq cyclin Q ISO ClinVar Annotator: match by term: Neutropenia ClinVar PMID:28492532 NCBI chrNW_004936809:471,619...482,296
Ensembl chrNW_004936809:472,061...482,192 		JBrowse link
G Cfb complement factor B ISO ClinVar Annotator: match by term: Neutropenia ClinVar NCBI chrNW_004936727:1,595,872...1,602,274
Ensembl chrNW_004936727:1,595,499...1,602,215 		JBrowse link
G Chd1l chromodomain helicase DNA binding protein 1 like ISO ClinVar Annotator: match by term: Neutropenia ClinVar NCBI chrNW_004937024:164,309...216,967
Ensembl chrNW_004937024:164,327...216,851 		JBrowse link
G Clpb caseinolytic mitochondrial matrix peptidase chaperone subunit B ISO ClinVar Annotator: match by term: Neutropenia ClinVar PMID:25597510 PMID:25597511 PMID:25741868 PMID:27290639 PMID:27891836 More... NCBI chrNW_004936498:1,590,655...1,730,815
Ensembl chrNW_004936498:1,590,655...1,730,815 		JBrowse link
G Csf2 colony stimulating factor 2 treatment ISO CTD Direct Evidence: therapeutic CTD
RGD		 PMID:7875148 PMID:10832225 PMID:11264156 RGD:10449510 NCBI chrNW_004936647:3,081,896...3,083,864
Ensembl chrNW_004936647:3,081,896...3,083,864 		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 chrNW_004936490:15,142,526...15,146,375
Ensembl chrNW_004936490:15,142,808...15,144,487 		JBrowse link
G CUNH16orf92 chromosome unknown C16orf92 homolog ISO ClinVar Annotator: match by term: Neutropenia ClinVar NCBI chrNW_004936501:12,450,902...12,452,169
Ensembl chrNW_004936501:12,451,173...12,451,964 		JBrowse link
G Dpyd dihydropyrimidine dehydrogenase ISO CTD Direct Evidence: marker/mechanism CTD PMID:12562666 NCBI chrNW_004936537:1,660,461...2,439,305
Ensembl chrNW_004936537:1,660,477...2,439,273 		JBrowse link
G Ephx1 epoxide hydrolase 1 ISO ClinVar Annotator: match by term: Neutropenia ClinVar NCBI chrNW_004936526:2,589,254...2,652,831
Ensembl chrNW_004936526:2,614,059...2,653,286 		JBrowse link
G Fcgr2a Fc fragment of IgG receptor IIa ISO DNA:SNP:cds:p.R131H (human) RGD PMID:11295474 RGD:11040988 NCBI chrNW_004937131:15,542...22,099 JBrowse link
G Fcgr2b Fc fragment of IgG receptor IIb ISO CTD Direct Evidence: marker/mechanism CTD PMID:10848805 NCBI chrNW_004937131:80,014...96,114 JBrowse link
G Gfi1 growth factor independent 1 transcriptional repressor ISO DNA:mutation:exon: RGD PMID:11810106 PMID:22684987 RGD:11040449 RGD:11040456 NCBI chrNW_004936537:6,610,565...6,618,509
Ensembl chrNW_004936537:6,610,565...6,618,450 		JBrowse link
G Hax1 HCLS1 associated protein X-1 ISO ClinVar Annotator: match by term: Neutropenia ClinVar PMID:28492532 PMID:32581362 NCBI chrNW_004936580:3,961,433...3,964,322
Ensembl chrNW_004936580:3,961,441...3,964,322 		JBrowse link
G Hoxd13 homeobox D13 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27725143 NCBI chrNW_004936509:5,579,846...5,581,651
Ensembl chrNW_004936509:5,579,843...5,581,651 		JBrowse link
G Il1b interleukin 1 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:1884014 NCBI chrNW_004936783:1,251,678...1,256,807
Ensembl chrNW_004936783:1,252,158...1,257,165 		JBrowse link
G Jagn1 jagunal homolog 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25129144 PMID:25129145 NCBI chrNW_004936602:3,300,685...3,303,509
Ensembl chrNW_004936602:3,298,348...3,303,555 		JBrowse link
G Kif11 kinesin family member 11 ISO ClinVar Annotator: match by term: Neutropenia ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936601:2,163,316...2,213,674
Ensembl chrNW_004936601:2,163,795...2,213,588 		JBrowse link
G Lims2 LIM zinc finger domain containing 2 ISO ClinVar Annotator: match by term: Neutropenia ClinVar NCBI chrNW_004936469:43,628,280...43,665,145
Ensembl chrNW_004936469:43,634,074...43,665,175 		JBrowse link
G LOC101961846 neutrophil elastase ISO ClinVar Annotator: match by term: Neutropenia ClinVar PMID:9536098 PMID:10581030 PMID:17576681 PMID:20049848 PMID:23463630 More... NCBI chrNW_004936588:345,678...347,420
Ensembl chrNW_004936588:345,678...347,413 		JBrowse link
G Mki67 marker of proliferation Ki-67 ISO protein:increased expression:blood, T cell RGD PMID:22092365 RGD:6483522 NCBI chrNW_004936486:15,561,327...15,587,109 JBrowse link
G Mthfr methylenetetrahydrofolate reductase ISO CTD Direct Evidence: marker/mechanism CTD PMID:19391036 NCBI chrNW_004936474:623,438...637,849
Ensembl chrNW_004936474:623,291...638,193 		JBrowse link
G Muc16 mucin 16, cell surface associated ISO ClinVar Annotator: match by term: Neutropenia ClinVar NCBI chrNW_004936588:5,506,683...5,586,450 JBrowse link
G Nup98 nucleoporin 98 and 96 precursor ISO CTD Direct Evidence: marker/mechanism CTD PMID:27725143 NCBI chrNW_004936498:1,112,724...1,219,790
Ensembl chrNW_004936498:1,112,663...1,220,634 		JBrowse link
G Pkp3 plakophilin 3 ISO ClinVar Annotator: match by term: Neutropenia ClinVar NCBI chrNW_004936888:270,883...280,118
Ensembl chrNW_004936888:270,873...280,121 		JBrowse link
G Polr3c RNA polymerase III subunit C ISO ClinVar Annotator: match by term: Neutropenia ClinVar NCBI chrNW_004936867:586,798...599,069
Ensembl chrNW_004936867:586,439...600,694 		JBrowse link
G Ptafr platelet activating factor receptor treatment ISO RGD PMID:3011900 RGD:10043179 NCBI chrNW_004936474:12,333,905...12,337,140
Ensembl chrNW_004936474:12,336,071...12,337,099 		JBrowse link
G Rnf128 ring finger protein 128 ISO ClinVar Annotator: match by term: Neutropenia ClinVar PMID:25741868 NCBI chrNW_004936499:7,952,567...8,013,589
Ensembl chrNW_004936499:7,952,567...8,052,656 		JBrowse link
G Rps14 ribosomal protein S14 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27725143 NCBI chrNW_004936504:4,495,930...4,500,843
Ensembl chrNW_004936504:4,495,693...4,502,695 		JBrowse link
G Slc34a1 solute carrier family 34 member 1 ISO ClinVar Annotator: match by term: Neutropenia ClinVar PMID:28492532 NCBI chrNW_004936597:1,667,700...1,684,533
Ensembl chrNW_004936597:1,667,569...1,684,539 		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 chrNW_004936541:4,475,290...4,485,619
Ensembl chrNW_004936541:4,472,028...4,485,619 		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 chrNW_004936646:747,178...763,449
Ensembl chrNW_004936646:748,727...761,287 		JBrowse link
G Stat3 signal transducer and activator of transcription 3 ISO associated with T-cell large granular lymphocyte leukemia RGD PMID:22591296 RGD:6892936 NCBI chrNW_004936490:17,119,189...17,178,402
Ensembl chrNW_004936490:17,117,290...17,178,402 		JBrowse link
G Tle2 TLE family member 2, transcriptional corepressor ISO ClinVar Annotator: match by term: Neutropenia ClinVar NCBI chrNW_004936588:1,718,263...1,734,408
Ensembl chrNW_004936588:1,718,283...1,734,409 		JBrowse link
G Tmem63a transmembrane protein 63A ISO ClinVar Annotator: match by term: Neutropenia ClinVar NCBI chrNW_004936526:2,653,556...2,690,427
Ensembl chrNW_004936526:2,652,111...2,690,451 		JBrowse link
G Tnf tumor necrosis factor ISO RGD PMID:15986200 RGD:1580321 NCBI chrNW_004936727:1,936,066...1,937,766
Ensembl chrNW_004936727:1,936,066...1,937,766 		JBrowse link
G Tpmt thiopurine S-methyltransferase ISO CTD Direct Evidence: marker/mechanism CTD PMID:18662289 NCBI chrNW_004936552:3,899,445...3,917,774
Ensembl chrNW_004936552:3,897,375...3,917,772 		JBrowse link
G Usp3 ubiquitin specific peptidase 3 ISO ClinVar Annotator: match by term: Neutropenia ClinVar NCBI chrNW_004936471:24,032,644...24,130,543
Ensembl chrNW_004936471:24,035,655...24,130,997 		JBrowse link
G Vps16 VPS16 core subunit of CORVET and HOPS complexes ISO ClinVar Annotator: match by term: Neutropenia ClinVar NCBI chrNW_004936485:15,879,324...15,900,544
Ensembl chrNW_004936485:15,879,327...15,900,544 		JBrowse link
G Xdh xanthine dehydrogenase ISO ClinVar Annotator: match by term: Neutropenia ClinVar PMID:25741868 PMID:28492532 PMID:30755392 NCBI chrNW_004936493:1,762,814...1,824,501
Ensembl chrNW_004936493:1,762,869...1,823,238 		JBrowse link
G Zc3h3 zinc finger CCCH-type containing 3 ISO ClinVar Annotator: match by term: Neutropenia ClinVar NCBI chrNW_004936470:8,591,564...8,675,505
Ensembl chrNW_004936470:8,591,540...8,675,519 		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 caseinolytic mitochondrial matrix peptidase chaperone subunit B ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIA OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:32313153 PMID:34140661 NCBI chrNW_004936498:1,590,655...1,730,815
Ensembl chrNW_004936498:1,590,655...1,730,815 		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 chrNW_004936498:1,460,795...1,468,363
Ensembl chrNW_004936498:1,463,810...1,468,351 		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 chrNW_004936498:1,953,770...2,016,875
Ensembl chrNW_004936498:1,953,762...2,003,367 		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 chrNW_004936498:2,511,516...2,570,481
Ensembl chrNW_004936498:2,511,986...2,571,680 		JBrowse link
G Arrb1 arrestin beta 1 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chrNW_004936498:4,089,621...4,172,749
Ensembl chrNW_004936498:4,094,893...4,172,755 		JBrowse link
G Atg16l2 autophagy related 16 like 2 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chrNW_004936498:2,070,985...2,084,141
Ensembl chrNW_004936498:2,070,881...2,083,968 		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 chrNW_004936498:3,099,419...3,242,334
Ensembl chrNW_004936498:3,099,396...3,242,335 		JBrowse link
G Chrdl2 chordin like 2 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chrNW_004936498:3,637,476...3,667,922
Ensembl chrNW_004936498:3,637,439...3,667,599 		JBrowse link
G Clpb caseinolytic mitochondrial matrix peptidase chaperone subunit B ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:25595726 PMID:25597510 More... NCBI chrNW_004936498:1,590,655...1,730,815
Ensembl chrNW_004936498:1,590,655...1,730,815 		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 chrNW_004936498:3,042,151...3,055,966
Ensembl chrNW_004936498:3,042,108...3,055,979 		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 chrNW_004936498:2,601,341...2,784,446
Ensembl chrNW_004936498:2,605,788...2,670,164 		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 chrNW_004936498:2,089,069...2,344,007
Ensembl chrNW_004936498:2,086,282...2,344,708 		JBrowse link
G Folr1 folate receptor alpha ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chrNW_004936498:1,489,916...1,497,200
Ensembl chrNW_004936498:1,491,547...1,497,226 		JBrowse link
G Folr2 folate receptor beta ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chrNW_004936498:1,516,719...1,522,187
Ensembl chrNW_004936498:1,516,710...1,522,347 		JBrowse link
G Gdpd5 glycerophosphodiester phosphodiesterase domain containing 5 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chrNW_004936498:4,225,855...4,288,082
Ensembl chrNW_004936498:4,225,305...4,288,059 		JBrowse link
G Il18bp interleukin 18 binding protein ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chrNW_004936498:1,353,569...1,358,312
Ensembl chrNW_004936498:1,355,749...1,361,117 		JBrowse link
G Inppl1 inositol polyphosphate phosphatase like 1 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chrNW_004936498:1,524,128...1,539,680
Ensembl chrNW_004936498:1,524,128...1,540,578 		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 chrNW_004936498:3,477,313...3,487,580
Ensembl chrNW_004936498:3,478,039...3,478,350 		JBrowse link
G Klhl35 kelch like family member 35 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chrNW_004936498:4,213,436...4,221,206
Ensembl chrNW_004936498:4,211,651...4,221,173 		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 chrNW_004936498:1,446,794...1,459,590
Ensembl chrNW_004936498:1,442,754...1,459,673 		JBrowse link
G Lipt2 lipoyl(octanoyl) transferase 2 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chrNW_004936498:3,497,424...3,499,131
Ensembl chrNW_004936498:3,497,053...3,499,169 		JBrowse link
G LOC101971285 7-dehydrocholesterol reductase ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chrNW_004936794:1,432,379...1,468,966 JBrowse link
G LOC101974080 cytochrome c oxidase assembly factor 4 homolog, mitochondrial ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chrNW_004936498:3,000,962...3,001,741
Ensembl chrNW_004936498:3,000,727...3,004,392 		JBrowse link
G Mrpl48 mitochondrial ribosomal protein L48 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chrNW_004936498:2,937,005...2,993,124
Ensembl chrNW_004936498:2,936,603...2,997,191 		JBrowse link
G Nadsyn1 NAD synthetase 1 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chrNW_004936794:1,394,975...1,423,807
Ensembl chrNW_004936794:1,396,703...1,423,709 		JBrowse link
G Neu3 neuraminidase 3 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chrNW_004936498:3,897,511...3,915,013
Ensembl chrNW_004936498:3,897,485...3,910,115 		JBrowse link
G Numa1 nuclear mitotic apparatus protein 1 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chrNW_004936498:1,358,598...1,438,041
Ensembl chrNW_004936498:1,359,285...1,438,382 		JBrowse link
G P2ry2 purinergic receptor P2Y2 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chrNW_004936498:2,432,436...2,444,495
Ensembl chrNW_004936498:2,432,448...2,444,354 		JBrowse link
G P2ry6 pyrimidinergic receptor P2Y6 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chrNW_004936498:2,468,020...2,501,344
Ensembl chrNW_004936498:2,500,128...2,501,114 		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 chrNW_004936498:3,313,572...3,346,888
Ensembl chrNW_004936498:3,313,586...3,346,888 		JBrowse link
G Paaf1 proteasomal ATPase associated factor 1 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chrNW_004936498:3,001,688...3,033,624
Ensembl chrNW_004936498:3,003,975...3,033,650 		JBrowse link
G Pde2a phosphodiesterase 2A ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chrNW_004936498:1,856,256...1,944,405
Ensembl chrNW_004936498:1,856,144...1,944,412 		JBrowse link
G Pgm2l1 phosphoglucomutase 2 like 1 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chrNW_004936498:3,369,347...3,426,938
Ensembl chrNW_004936498:3,369,351...3,427,262 		JBrowse link
G Phox2a paired like homeobox 2A ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chrNW_004936498:1,539,939...1,544,469
Ensembl chrNW_004936498:1,540,484...1,544,360 		JBrowse link
G Plekhb1 pleckstrin homology domain containing B1 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chrNW_004936498:2,813,842...2,831,772
Ensembl chrNW_004936498:2,813,587...2,831,855 		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 chrNW_004936498:3,544,001...3,584,456 JBrowse link
G Ppme1 protein phosphatase methylesterase 1 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chrNW_004936498:3,242,413...3,302,334
Ensembl chrNW_004936498:3,242,282...3,302,330 		JBrowse link
G Rab6a RAB6A, member RAS oncogene family ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chrNW_004936498:2,840,141...2,907,227 JBrowse link
G Relt RELT TNF receptor ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chrNW_004936498:2,577,389...2,596,690
Ensembl chrNW_004936498:2,589,291...2,595,207 		JBrowse link
G Rnf121 ring finger protein 121 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chrNW_004936498:1,291,072...1,353,487
Ensembl chrNW_004936498:1,291,067...1,352,528 		JBrowse link
G Rnf169 ring finger protein 169 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chrNW_004936498:3,675,075...3,783,514
Ensembl chrNW_004936498:3,685,572...3,776,466 		JBrowse link
G Rps3 ribosomal protein S3 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chrNW_004936498:4,198,189...4,204,531
Ensembl chrNW_004936498:4,198,130...4,204,528 		JBrowse link
G Serpinh1 serpin family H member 1 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chrNW_004936498:4,341,944...4,351,432
Ensembl chrNW_004936498:4,341,899...4,351,524 		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 chrNW_004936498:3,998,537...4,047,436
Ensembl chrNW_004936498:3,998,474...4,047,239 		JBrowse link
G Spcs2 signal peptidase complex subunit 2 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chrNW_004936498:3,848,045...3,872,691
Ensembl chrNW_004936498:3,848,017...3,875,147 		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 chrNW_004936498:2,018,736...2,044,897
Ensembl chrNW_004936498:2,018,531...2,044,877 		JBrowse link
G Tpbgl trophoblast glycoprotein like ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chrNW_004936498:4,074,869...4,079,796
Ensembl chrNW_004936498:4,076,084...4,077,253 		JBrowse link
G Ucp2 uncoupling protein 2 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chrNW_004936498:3,059,700...3,066,112
Ensembl chrNW_004936498:3,059,297...3,066,197 		JBrowse link
G Ucp3 uncoupling protein 3 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chrNW_004936498:3,082,575...3,095,739
Ensembl chrNW_004936498:3,082,575...3,095,737 		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 chrNW_004936498:3,783,623...3,844,674
Ensembl chrNW_004936498:3,785,091...3,839,386 		JBrowse link
Chemotherapy-Induced Febrile Neutropenia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gstp1 glutathione S-transferase pi 1 susceptibility ISO DNA:polymorphism: : rs1695(human) RGD PMID:25008867 RGD:10755412 NCBI chrNW_004936599:2,197,681...2,200,642
Ensembl chrNW_004936599:2,197,634...2,201,050 		JBrowse link
G Itpa inosine triphosphatase ISO associated with Precursor Cell Lymphoblastic Leukemia-Lymphoma;DNA:SNP: :rs41320251 (human) RGD PMID:18685564 RGD:10766478 NCBI chrNW_004936485:15,499,688...15,511,992
Ensembl chrNW_004936485:15,497,822...15,511,992 		JBrowse link
G LOC101955076 low affinity immunoglobulin gamma Fc region receptor III-A treatment ISO associated with Lymphoma, Large B-Cell, Diffuse;DNA:SNP: :rs396991 (human) RGD PMID:27282998 RGD:11344967 NCBI chrNW_004937131:42,523...49,533 JBrowse link
G LOC101968921 angiotensin-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 chrNW_004936541:4,157,847...4,178,156
Ensembl chrNW_004936541:4,157,393...4,178,177 		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 chrNW_004936545:6,709,903...6,732,334 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 chrNW_004936595:919,807...935,367
Ensembl chrNW_004936595:919,428...925,425 		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 chrNW_004936588:460,308...477,382
Ensembl chrNW_004936588:461,389...477,229 		JBrowse link
G Abhd17a abhydrolase domain containing 17A, depalmitoylase ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chrNW_004936588:1,081,719...1,089,514
Ensembl chrNW_004936588:1,077,817...1,091,073 		JBrowse link
G Adamtsl5 ADAMTS like 5 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chrNW_004936588:810,880...817,636
Ensembl chrNW_004936588:810,234...817,656 		JBrowse link
G Adat3 adenosine deaminase tRNA specific 3 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chrNW_004936588:1,108,790...1,111,287 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 chrNW_004936549:5,964,240...6,205,245
Ensembl chrNW_004936549:5,965,143...6,204,379 		JBrowse link
G Ap3d1 adaptor related protein complex 3 subunit delta 1 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chrNW_004936588:1,223,646...1,262,577
Ensembl chrNW_004936588:1,222,466...1,262,676 		JBrowse link
G Apc2 APC regulator of WNT signaling pathway 2 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chrNW_004936588:767,115...787,321
Ensembl chrNW_004936588:767,066...786,951 		JBrowse link
G Arhgap45 Rho GTPase activating protein 45 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chrNW_004936588:478,708...492,029
Ensembl chrNW_004936588:478,811...491,455 		JBrowse link
G Arid3a AT-rich interaction domain 3A ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chrNW_004936588:389,213...418,360
Ensembl chrNW_004936588:394,469...415,893 		JBrowse link
G Atp5f1d ATP synthase F1 subunit delta ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chrNW_004936588:612,255...614,894
Ensembl chrNW_004936588:611,725...617,782 		JBrowse link
G Atp8b3 ATPase phospholipid transporting 8B3 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chrNW_004936588:1,012,069...1,028,113
Ensembl chrNW_004936588:1,012,233...1,028,287 		JBrowse link
G Btbd2 BTB domain containing 2 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chrNW_004936588:1,150,993...1,165,607
Ensembl chrNW_004936588:1,152,001...1,165,613 		JBrowse link
G Cbarp CACN subunit beta associated regulatory protein ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chrNW_004936588:601,108...607,823
Ensembl chrNW_004936588:601,521...607,175 		JBrowse link
G Cfd complement factor D ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chrNW_004936588:350,925...352,732
Ensembl chrNW_004936588:350,921...355,582 		JBrowse link
G Cirbp cold inducible RNA binding protein ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chrNW_004936588:636,041...639,564
Ensembl chrNW_004936588:636,026...640,409 		JBrowse link
G Cnn2 calponin 2 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chrNW_004936588:453,908...459,916
Ensembl chrNW_004936588:453,876...460,015 		JBrowse link
G Csnk1g2 casein kinase 1 gamma 2 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chrNW_004936588:1,140,332...1,148,265
Ensembl chrNW_004936588:1,140,619...1,147,282 		JBrowse link
G CUNH19orf25 chromosome unknown C19orf25 homolog ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chrNW_004936588:789,095...792,348 JBrowse link
G Dazap1 DAZ associated protein 1 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chrNW_004936588:730,626...758,074
Ensembl chrNW_004936588:740,038...758,074 		JBrowse link
G Efna2 ephrin A2 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chrNW_004936588:648,336...657,768
Ensembl chrNW_004936588:648,336...657,785 		JBrowse link
G Fam174c family with sequence similarity 174 member C ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chrNW_004936588:641,197...643,836
Ensembl chrNW_004936588:641,195...644,831 		JBrowse link
G Fgf22 fibroblast growth factor 22 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chrNW_004936588:227,656...231,816
Ensembl chrNW_004936588:227,685...229,925 		JBrowse link
G Fstl3 follistatin like 3 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chrNW_004936588:250,359...255,922
Ensembl chrNW_004936588:250,249...256,902 		JBrowse link
G Gamt guanidinoacetate N-methyltransferase ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chrNW_004936588:721,436...724,475
Ensembl chrNW_004936588:721,313...724,524 		JBrowse link
G Gpx4 glutathione peroxidase 4 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chrNW_004936588:506,101...508,469
Ensembl chrNW_004936588:506,147...508,101 		JBrowse link
G Grin3b glutamate ionotropic receptor NMDA type subunit 3B ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chrNW_004936588:433,544...440,534
Ensembl chrNW_004936588:433,261...444,237 		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 chrNW_004936588:202,101...209,255
Ensembl chrNW_004936588:142,786...208,606 		JBrowse link
G Izumo4 IZUMO family member 4 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chrNW_004936588:1,220,013...1,223,767
Ensembl chrNW_004936588:1,219,866...1,222,455 		JBrowse link
G Kiss1r KISS1 receptor ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chrNW_004936588:384,195...387,625
Ensembl chrNW_004936588:384,195...386,820 		JBrowse link
G Klf16 KLF transcription factor 16 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chrNW_004936588:1,061,386...1,068,351 JBrowse link
G LOC101955110 cytochrome b-c1 complex subunit 10 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chrNW_004936588:876,750...880,677
Ensembl chrNW_004936588:876,755...880,685 		JBrowse link
G LOC101961559 E3 ubiquitin-protein ligase RNF126 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chrNW_004936588:231,723...237,969
Ensembl chrNW_004936588:255,639...260,291
Ensembl chrNW_004936588:255,639...260,291 		JBrowse link
G LOC101961846 neutrophil elastase ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar
OMIM		 PMID:3229910 PMID:9536098 PMID:10581030 PMID:11001877 PMID:11675333 More... NCBI chrNW_004936588:345,678...347,420
Ensembl chrNW_004936588:345,678...347,413 		JBrowse link
G Mbd3 methyl-CpG binding domain protein 3 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chrNW_004936588:865,046...873,821
Ensembl chrNW_004936588:864,867...874,923 		JBrowse link
G Med16 mediator complex subunit 16 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chrNW_004936588:352,723...370,898
Ensembl chrNW_004936588:355,353...370,859 		JBrowse link
G Mex3d mex-3 RNA binding family member D ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chrNW_004936588:850,049...858,318
Ensembl chrNW_004936588:850,904...858,322 		JBrowse link
G Midn midnolin ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chrNW_004936588:620,353...627,113
Ensembl chrNW_004936588:620,840...625,443 		JBrowse link
G Misp mitotic spindle positioning ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chrNW_004936588:290,620...294,058
Ensembl chrNW_004936588:290,662...294,248 		JBrowse link
G Mknk2 MAPK interacting serine/threonine kinase 2 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chrNW_004936588:1,176,861...1,188,931
Ensembl chrNW_004936588:1,178,890...1,188,896 		JBrowse link
G Mob3a MOB kinase activator 3A ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chrNW_004936588:1,202,019...1,212,064
Ensembl chrNW_004936588:1,202,005...1,212,144 		JBrowse link
G Ndufs7 NADH:ubiquinone oxidoreductase core subunit S7 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chrNW_004936588:715,093...720,035
Ensembl chrNW_004936588:715,162...719,968 		JBrowse link
G Onecut3 one cut homeobox 3 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chrNW_004936588:985,377...1,011,796
Ensembl chrNW_004936588:985,377...1,008,075 		JBrowse link
G Palm paralemmin ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chrNW_004936588:270,431...283,925
Ensembl chrNW_004936588:270,425...283,974 		JBrowse link
G Pcsk4 proprotein convertase subtilisin/kexin type 4 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chrNW_004936588:793,615...800,038
Ensembl chrNW_004936588:794,227...799,663 		JBrowse link
G Plk5 polo like kinase 5 (inactive) ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chrNW_004936588:826,473...838,818 JBrowse link
G Plppr3 phospholipid phosphatase related 3 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chrNW_004936588:327,089...333,267
Ensembl chrNW_004936588:323,864...333,031 		JBrowse link
G Polr2e RNA polymerase II, I and III subunit E ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chrNW_004936588:494,445...499,659
Ensembl chrNW_004936588:494,399...499,952 		JBrowse link
G Polrmt RNA polymerase mitochondrial ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chrNW_004936588:209,720...221,847
Ensembl chrNW_004936588:209,610...221,905 		JBrowse link
G Ptbp1 polypyrimidine tract binding protein 1 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chrNW_004936588:316,348...326,895
Ensembl chrNW_004936588:316,167...327,044 		JBrowse link
G Pwwp3a PWWP domain containing 3A, DNA repair factor ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chrNW_004936588:692,436...709,899
Ensembl chrNW_004936588:692,436...709,945 		JBrowse link
G R3hdm4 R3H domain containing 4 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chrNW_004936588:373,177...382,018
Ensembl chrNW_004936588:372,971...378,538 		JBrowse link
G Reep6 receptor accessory protein 6 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chrNW_004936588:800,492...804,769
Ensembl chrNW_004936588:799,414...809,852 		JBrowse link
G Rexo1 RNA exonuclease 1 homolog ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chrNW_004936588:1,030,528...1,042,727
Ensembl chrNW_004936588:1,032,196...1,042,655 		JBrowse link
G Rps15 ribosomal protein S15 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chrNW_004936588:762,153...763,405
Ensembl chrNW_004936588:761,924...764,742 		JBrowse link
G Sbno2 strawberry notch homolog 2 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chrNW_004936588:509,244...556,424
Ensembl chrNW_004936588:505,948...541,831 		JBrowse link
G Scamp4 secretory carrier membrane protein 4 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chrNW_004936588:1,104,098...1,119,761
Ensembl chrNW_004936588:1,104,098...1,119,778 		JBrowse link
G Stk11 serine/threonine kinase 11 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chrNW_004936588:579,816...601,033
Ensembl chrNW_004936588:579,816...603,654 		JBrowse link
G Tcf3 transcription factor 3 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chrNW_004936588:884,817...913,052
Ensembl chrNW_004936588:884,789...912,753 		JBrowse link
G Tmem259 transmembrane protein 259 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chrNW_004936588:440,460...449,440
Ensembl chrNW_004936588:441,135...449,444 		JBrowse link
G Wdr18 WD repeat domain 18 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chrNW_004936588:423,672...429,875
Ensembl chrNW_004936588:423,443...432,303 		JBrowse link
Drug-induced Neutropenia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcb1 ATP binding cassette subfamily B member 1 susceptibility ISO Breast Neoplasms;DNA:SNP: :3435 C>T(human)
associated with Carcinoma, Non-Small-Cell Lung;DNA:SNP: :2677G>T(human)
associated with Precursor Cell Lymphoblastic Leukemia-Lymphoma;DNA:SNPs:rs1045642,rs1128503(human)		 RGD PMID:17534875 PMID:22271208 PMID:25007187 RGD:11080964 RGD:11080979 RGD:11081001 NCBI chrNW_004936763:1,225,355...1,308,257
Ensembl chrNW_004936763:1,226,482...1,297,427 		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 chrNW_004936636:292,631...341,999
Ensembl chrNW_004936636:292,709...340,393 		JBrowse link
G Csf3 colony stimulating factor 3 treatment ISO associated with Hepatitis C, Chronic;
associated with Leukemia, Hairy Cell;		 RGD PMID:2461131 PMID:17660602 RGD:11039035 RGD:11039036 NCBI chrNW_004936490:15,142,526...15,146,375
Ensembl chrNW_004936490:15,142,808...15,144,487 		JBrowse link
G Dpyd dihydropyrimidine dehydrogenase treatment
no_association		 ISO associated with Colorectal Neoplasms;DNA:SNPs: :rs1801159 (1896T>C), rs17376848 (human)
associated with Neoplasms;DNA:missense mutation: :p.M166V (496A>G) (human)
DNA:splice-site mutation, missense mutations: :multiple
associated with Neoplasms;DNA:missense mutations: :multiple
associated with Neoplasms;DNA:splice-site mutation:intron:IVS14+1G>A (human)		 RGD PMID:11156223 PMID:12209976 PMID:19473056 PMID:23942539 RGD:11098817 RGD:11251736 RGD:11251737 RGD:11251738 NCBI chrNW_004936537:1,660,461...2,439,305
Ensembl chrNW_004936537:1,660,477...2,439,273 		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 chrNW_004936706:1,854,938...1,867,521
Ensembl chrNW_004936706:1,852,359...1,867,745 		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 chrNW_004936706:1,816,561...1,829,638
Ensembl chrNW_004936706:1,816,571...1,829,692 		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 chrNW_004936728:706,499...843,447
Ensembl chrNW_004936728:761,804...844,690 		JBrowse link
G Gstp1 glutathione S-transferase pi 1 susceptibility ISO DNA:SNP:cds:p.I105V (rs1695) (human) RGD PMID:23812950 RGD:10755330 NCBI chrNW_004936599:2,197,681...2,200,642
Ensembl chrNW_004936599:2,197,634...2,201,050 		JBrowse link
G Il1a interleukin 1 alpha treatment ISO associated with Carcinoma, Non-Small-Cell Lung RGD PMID:7666093 RGD:11051963 NCBI chrNW_004936783:1,210,715...1,218,315
Ensembl chrNW_004936783:1,210,809...1,218,315 		JBrowse link
G LOC101955076 low affinity immunoglobulin gamma Fc region receptor III-A ISO associated with Lymphoma, B-Cell;DNA:polymorphism: :p.V158F (human)
associated with Non-Hodgkin lymphoma;DNA:polymorphism: :p.V158F (human)
associated with Lymphoma, Large B-Cell, Diffuse;DNA:polymorphism: :p.V158F (human)		 RGD PMID:19933905 PMID:20730791 PMID:21883784 RGD:11344964 RGD:11344973 RGD:11352256 NCBI chrNW_004937131:42,523...49,533 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 chrNW_004936545:6,709,903...6,732,334 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 chrNW_004936889:231,373...250,985
Ensembl chrNW_004936889:231,373...250,987
Ensembl chrNW_004936889:231,373...250,987 		JBrowse link
G Slco1b3 solute carrier organic anion transporter family member 1B3 no_association
susceptibility		 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 chrNW_004936548:5,593,908...5,682,187 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 chrNW_004936489:11,178,338...11,191,601
Ensembl chrNW_004936489:11,178,015...11,191,781 		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 chrNW_004936595:919,807...935,367
Ensembl chrNW_004936595:919,428...925,425 		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 deficiency OMIM
ClinVar		 PMID:205284 PMID:25741868 PMID:27557945 PMID:27994071 PMID:28492532 More... NCBI chrNW_004936477:16,643,142...16,682,450
Ensembl chrNW_004936477:16,629,856...16,682,450 		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 ClinVar Annotator: match by term: Nonimmune chronic idiopathic neutropenia of adults OMIM
ClinVar		 PMID:11807637 PMID:12778173 PMID:25741868 PMID:28492532 NCBI chrNW_004936537:6,610,565...6,618,509
Ensembl chrNW_004936537:6,610,565...6,618,450 		JBrowse link
G Tert telomerase reverse transcriptase ISO RGD PMID:22133767 RGD:11038657 NCBI chrNW_004936815:468,987...492,666
Ensembl chrNW_004936815:469,020...491,697 		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 OMIM
ClinVar		 PMID:11737690 PMID:16199547 PMID:18925663 PMID:20004881 PMID:20503306 More... NCBI chrNW_004936475:9,933,607...9,947,910
Ensembl chrNW_004936475:9,933,163...9,947,970 		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 chrNW_004936474:18,877,036...18,887,574
Ensembl chrNW_004936474:18,877,375...18,887,530 		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 RGD
ClinVar		 PMID:16985178 PMID:24753537 PMID:26324699 PMID:28492532 PMID:32581362 RGD:10450485 NCBI chrNW_004936474:18,877,036...18,887,574
Ensembl chrNW_004936474:18,877,375...18,887,530 		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 chrNW_004936596:3,234,603...3,265,484
Ensembl chrNW_004936596:3,252,826...3,265,359 		JBrowse link
G G6pc3 glucose-6-phosphatase catalytic subunit 3 ISO ClinVar Annotator: match by term: Severe congenital neutropenia ClinVar NCBI chrNW_004936541:556,413...561,336
Ensembl chrNW_004936541:556,307...561,333 		JBrowse link
G Gfi1 growth factor independent 1 transcriptional repressor ISO OMIM:202700 | OMIM:300299 | OMIM:610738 | OMIM:612541 | OMIM:613107 | OMIM:615285 | OMIM:616022 MouseDO NCBI chrNW_004936537:6,610,565...6,618,509
Ensembl chrNW_004936537:6,610,565...6,618,450 		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 chrNW_004936580:3,961,433...3,964,322
Ensembl chrNW_004936580:3,961,441...3,964,322 		JBrowse link
G Jagn1 jagunal homolog 1 ISO ClinVar Annotator: match by term: Severe congenital neutropenia ClinVar PMID:25129144 PMID:25741868 PMID:25851723 PMID:28492532 PMID:30044346 More... NCBI chrNW_004936602:3,300,685...3,303,509
Ensembl chrNW_004936602:3,298,348...3,303,555 		JBrowse link
G LOC101961846 neutrophil elastase ISO DNA:mutation:intron:c.597+1G>A (human)
DNA:mutations: :
mRNA:decreased expression:myeloid CD33+ cell:		 RGD PMID:10581030 PMID:19620402 PMID:21425445 PMID:24616599 RGD:10450514 RGD:10450519 RGD:10450525 RGD:1598891 NCBI chrNW_004936588:345,678...347,420
Ensembl chrNW_004936588:345,678...347,413 		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 chrNW_004936599:2,070,211...2,079,169
Ensembl chrNW_004936599:2,066,847...2,079,206 		JBrowse link
severe congenital neutropenia 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC101961846 neutrophil elastase ISO ClinVar Annotator: match by term: Neutropenia, severe congenital, 1, autosomal dominant ClinVar
OMIM		 PMID:3229910 PMID:9536098 PMID:10581030 PMID:11001877 PMID:11675333 More... NCBI chrNW_004936588:345,678...347,420
Ensembl chrNW_004936588:345,678...347,413 		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 chrNW_004936599:2,070,211...2,079,169
Ensembl chrNW_004936599:2,066,847...2,079,206 		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 chrNW_004936470:43,281,905...43,952,523
Ensembl chrNW_004936470:43,281,469...43,951,805 		JBrowse link
severe congenital neutropenia 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dipk1a divergent protein kinase domain 1A ISO ClinVar Annotator: match by term: Neutropenia, severe congenital, 2, autosomal dominant ClinVar PMID:28492532 NCBI chrNW_004936537:6,234,773...6,341,782
Ensembl chrNW_004936537:6,234,814...6,341,777 		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 chrNW_004936537:6,385,144...6,585,522
Ensembl chrNW_004936537:6,378,112...6,583,879 		JBrowse link
G Gfi1 growth factor independent 1 transcriptional repressor ISO ClinVar Annotator: match by term: Neutropenia, severe congenital, 2, autosomal dominant OMIM
ClinVar		 PMID:9536098 PMID:11807637 PMID:12778173 PMID:17576681 PMID:20560965 More... NCBI chrNW_004936537:6,610,565...6,618,509
Ensembl chrNW_004936537:6,610,565...6,618,450 		JBrowse link
G Rpl5 ribosomal protein L5 ISO ClinVar Annotator: match by term: Neutropenia, severe congenital, 2, autosomal dominant ClinVar PMID:28492532 NCBI chrNW_004936537:6,341,961...6,344,831 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 chrNW_004936580:4,588,182...4,598,659
Ensembl chrNW_004936580:4,588,039...4,599,014 		JBrowse link
G Adamtsl4 ADAMTS like 4 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chrNW_004936580:782,146...791,388
Ensembl chrNW_004936580:782,112...791,605 		JBrowse link
G Adar adenosine deaminase RNA specific ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:17187068 PMID:28492532 NCBI chrNW_004936580:4,183,016...4,208,341
Ensembl chrNW_004936580:4,183,079...4,203,435 		JBrowse link
G Anp32e acidic nuclear phosphoprotein 32 family member E ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chrNW_004936580:519,135...526,079 JBrowse link
G Anxa9 annexin A9 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chrNW_004936580:1,208,536...1,218,438
Ensembl chrNW_004936580:1,208,120...1,220,173 		JBrowse link
G Aph1a aph-1 homolog A, gamma-secretase subunit ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chrNW_004936580:552,362...556,027
Ensembl chrNW_004936580:552,362...556,027 		JBrowse link
G Aqp10 aquaporin 10 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:17187068 PMID:28492532 NCBI chrNW_004936580:3,981,254...3,984,895
Ensembl chrNW_004936580:3,980,659...3,984,394 		JBrowse link
G Arhgef2 Rho/Rac guanine nucleotide exchange factor 2 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chrNW_004936580:5,213,323...5,230,861
Ensembl chrNW_004936580:5,214,401...5,245,021 		JBrowse link
G Arnt aryl hydrocarbon receptor nuclear translocator ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chrNW_004936580:1,038,420...1,093,319
Ensembl chrNW_004936580:1,036,973...1,082,984 		JBrowse link
G Ash1l ASH1 like histone lysine methyltransferase ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chrNW_004936580:4,821,384...4,997,112
Ensembl chrNW_004936580:4,820,142...4,997,112 		JBrowse link
G Atp8b2 ATPase phospholipid transporting 8B2 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:17187068 PMID:28492532 NCBI chrNW_004936580:3,988,383...4,010,156
Ensembl chrNW_004936580:3,988,463...4,010,584 		JBrowse link
G Bcan brevican ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chrNW_004936580:5,816,196...5,828,531
Ensembl chrNW_004936580:5,816,359...5,828,126 		JBrowse link
G Bglap bone gamma-carboxyglutamate protein ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chrNW_004936580:5,480,023...5,482,288
Ensembl chrNW_004936580:5,481,355...5,482,155 		JBrowse link
G Bnipl BCL2 interacting protein like ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chrNW_004936580:1,254,525...1,264,380
Ensembl chrNW_004936580:1,254,822...1,265,031 		JBrowse link
G Ca14 carbonic anhydrase 14 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chrNW_004936580:545,221...552,071
Ensembl chrNW_004936580:544,852...555,089 		JBrowse link
G Cct3 chaperonin containing TCP1 subunit 3 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chrNW_004936580:5,537,338...5,554,384
Ensembl chrNW_004936580:5,537,015...5,554,384 		JBrowse link
G Cdc42se1 CDC42 small effector 1 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chrNW_004936580:1,268,202...1,276,485
Ensembl chrNW_004936580:1,268,195...1,276,361 		JBrowse link
G Celf3 CUGBP Elav-like family member 3 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chrNW_004936580:1,897,694...1,911,817
Ensembl chrNW_004936580:1,899,877...1,911,348 		JBrowse link
G Cers2 ceramide synthase 2 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chrNW_004936580:1,192,843...1,201,863
Ensembl chrNW_004936580:1,192,847...1,201,909 		JBrowse link
G Cgn cingulin ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chrNW_004936580:1,719,743...1,744,265 JBrowse link
G Chrnb2 cholinergic receptor nicotinic beta 2 subunit ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:17187068 PMID:28492532 NCBI chrNW_004936580:4,165,255...4,179,285
Ensembl chrNW_004936580:4,166,619...4,186,443 		JBrowse link
G Chtop chromatin target of PRMT1 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chrNW_004936580:3,436,260...3,444,522
Ensembl chrNW_004936580:3,434,773...3,445,080 		JBrowse link
G Ciart circadian associated repressor of transcription ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chrNW_004936580:566,745...571,160 JBrowse link
G Clk2 CDC like kinase 2 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chrNW_004936580:4,746,276...4,758,236
Ensembl chrNW_004936580:4,746,276...4,756,230 		JBrowse link
G Crabp2 cellular retinoic acid binding protein 2 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chrNW_004936580:5,861,051...5,866,818
Ensembl chrNW_004936580:5,860,562...5,866,856 		JBrowse link
G Creb3l4 cAMP responsive element binding protein 3 like 4 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chrNW_004936580:3,715,122...3,720,154
Ensembl chrNW_004936580:3,715,027...3,724,282 		JBrowse link
G Crnn cornulin ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chrNW_004936580:2,513,644...2,517,221 JBrowse link
G Crtc2 CREB regulated transcription coactivator 2 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chrNW_004936580:3,693,429...3,704,104
Ensembl chrNW_004936580:3,693,430...3,704,104 		JBrowse link
G Ctsk cathepsin K ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chrNW_004936580:1,022,762...1,038,020
Ensembl chrNW_004936580:1,022,762...1,034,984 		JBrowse link
G Ctss cathepsin S ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chrNW_004936580:963,176...991,732
Ensembl chrNW_004936580:963,153...991,442 		JBrowse link
G CUNH1orf189 chromosome unknown C1orf189 homolog ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:17187068 PMID:28492532 NCBI chrNW_004936580:3,897,637...3,902,196
Ensembl chrNW_004936580:3,897,637...3,902,170 		JBrowse link
G CUNH1orf43 chromosome unknown C1orf43 homolog ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:17187068 PMID:28492532 NCBI chrNW_004936580:3,902,345...3,914,293
Ensembl chrNW_004936580:3,906,135...3,914,298 		JBrowse link
G CUNH1orf54 chromosome unknown C1orf54 homolog ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chrNW_004936580:557,992...563,957
Ensembl chrNW_004936580:557,976...563,969 		JBrowse link
G CUNH1orf56 chromosome unknown C1orf56 homolog ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chrNW_004936580:1,264,883...1,268,097 JBrowse link
G Dap3 death associated protein 3 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chrNW_004936580:4,996,703...5,032,203
Ensembl chrNW_004936580:4,997,969...5,031,956 		JBrowse link
G Dcst1 DC-STAMP domain containing 1 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chrNW_004936580:4,571,349...4,586,459
Ensembl chrNW_004936580:4,571,319...4,586,394 		JBrowse link
G Dcst2 DC-STAMP domain containing 2 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chrNW_004936580:4,561,423...4,571,109
Ensembl chrNW_004936580:4,563,735...4,571,079 		JBrowse link
G Dennd4b DENN domain containing 4B ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chrNW_004936580:3,677,594...3,691,531
Ensembl chrNW_004936580:3,676,267...3,691,537 		JBrowse link
G Dpm3 dolichyl-phosphate mannosyltransferase subunit 3, regulatory ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chrNW_004936580:4,664,653...4,665,199
Ensembl chrNW_004936580:4,664,653...4,665,188 		JBrowse link
G Ecm1 extracellular matrix protein 1 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chrNW_004936580:750,423...756,765
Ensembl chrNW_004936580:750,736...756,771 		JBrowse link
G Efna1 ephrin A1 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chrNW_004936580:4,654,503...4,660,950
Ensembl chrNW_004936580:4,654,503...4,660,966 		JBrowse link
G Efna3 ephrin A3 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chrNW_004936580:4,613,847...4,622,834
Ensembl chrNW_004936580:4,613,847...4,621,208 		JBrowse link
G Efna4 ephrin A4 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chrNW_004936580:4,598,748...4,604,293
Ensembl chrNW_004936580:4,599,136...4,604,257 		JBrowse link
G Ensa endosulfine alpha ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chrNW_004936580:803,452...859,215
Ensembl chrNW_004936580:851,907...859,213 		JBrowse link
G Entrep3 endosomal transmembrane epsin interactor 3 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chrNW_004936580:4,733,083...4,740,136
Ensembl chrNW_004936580:4,731,036...4,740,099 		JBrowse link
G Fdps farnesyl diphosphate synthase ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chrNW_004936580:4,799,354...4,808,406 JBrowse link
G Flad1 flavin adenine dinucleotide synthetase 1 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chrNW_004936580:4,530,007...4,535,909
Ensembl chrNW_004936580:4,530,006...4,536,730 		JBrowse link
G Gabpb2 GA binding protein transcription factor subunit beta 2 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chrNW_004936580:1,283,593...1,323,110
Ensembl chrNW_004936580:1,290,991...1,321,925 		JBrowse link
G Gatad2b GATA zinc finger domain containing 2B ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chrNW_004936580:3,579,119...3,597,644
Ensembl chrNW_004936580:3,579,119...3,597,667 		JBrowse link
G Gba1 glucosylceramidase beta 1 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chrNW_004936580:4,715,869...4,720,752
Ensembl chrNW_004936580:4,715,408...4,720,798 		JBrowse link
G Glmp glycosylated lysosomal membrane protein ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chrNW_004936580:5,526,101...5,528,984
Ensembl chrNW_004936580:5,524,678...5,529,025 		JBrowse link
G Golph3l golgi phosphoprotein 3 like ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chrNW_004936580:890,078...931,907
Ensembl chrNW_004936580:890,063...931,951 		JBrowse link
G Gon4l gon-4 like ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chrNW_004936580:5,044,536...5,124,575 JBrowse link
G Gpatch4 G-patch domain containing 4 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chrNW_004936580:5,773,076...5,781,288
Ensembl chrNW_004936580:5,769,541...5,781,325 		JBrowse link
G Hapln2 hyaluronan and proteoglycan link protein 2 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chrNW_004936580:5,792,421...5,811,096 JBrowse link
G Hax1 HCLS1 associated protein X-1 ISO ClinVar Annotator: match by term: Kostmann syndrome OMIM
ClinVar		 PMID:9536098 PMID:10581030 PMID:11519978 PMID:16199547 PMID:17187068 More... NCBI chrNW_004936580:3,961,433...3,964,322
Ensembl chrNW_004936580:3,961,441...3,964,322 		JBrowse link
G Hcn3 hyperpolarization activated cyclic nucleotide gated potassium channel 3 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chrNW_004936580:4,760,289...4,770,571
Ensembl chrNW_004936580:4,760,241...4,772,583 		JBrowse link
G Hdgf heparin binding growth factor ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chrNW_004936580:5,899,277...5,909,309
Ensembl chrNW_004936580:5,900,528...5,908,938 		JBrowse link
G Hormad1 HORMA domain containing 1 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chrNW_004936580:933,123...956,201
Ensembl chrNW_004936580:933,365...954,486 		JBrowse link
G Il6r interleukin 6 receptor ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:17187068 PMID:28492532 NCBI chrNW_004936580:4,055,438...4,081,876
Ensembl chrNW_004936580:4,057,771...4,081,885 		JBrowse link
G Ilf2 interleukin enhancer binding factor 2 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chrNW_004936580:3,464,870...3,472,242 JBrowse link
G Insrr insulin receptor related receptor ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chrNW_004936580:5,982,259...5,999,994
Ensembl chrNW_004936580:5,983,006...5,999,994 		JBrowse link
G Ints3 integrator complex subunit 3 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chrNW_004936580:3,511,364...3,553,441
Ensembl chrNW_004936580:3,511,311...3,553,756 		JBrowse link
G Iqgap3 IQ motif containing GTPase activating protein 3 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chrNW_004936580:5,712,118...5,751,721
Ensembl chrNW_004936580:5,713,156...5,751,721 		JBrowse link
G Isg20l2 interferon stimulated exonuclease gene 20 like 2 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chrNW_004936580:5,876,488...5,883,850
Ensembl chrNW_004936580:5,876,248...5,884,314 		JBrowse link
G Ivl involucrin ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chrNW_004936580:2,892,316...2,894,085 JBrowse link
G Jtb jumping translocation breakpoint ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chrNW_004936580:3,720,252...3,722,375 JBrowse link
G Kcnn3 potassium calcium-activated channel subfamily N member 3 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chrNW_004936580:4,277,219...4,426,242
Ensembl chrNW_004936580:4,277,217...4,426,493 		JBrowse link
G Khdc4 KH domain containing 4, pre-mRNA splicing factor ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chrNW_004936580:5,167,930...5,188,334
Ensembl chrNW_004936580:5,167,930...5,188,460 		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 chrNW_004936580:2,726,139...2,726,981
Ensembl chrNW_004936580:2,725,518...2,726,994 		JBrowse link
G Kprp keratinocyte proline rich protein ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chrNW_004936580:2,761,588...2,763,435
Ensembl chrNW_004936580:2,761,588...2,763,435 		JBrowse link
G Krtcap2 keratinocyte associated protein 2 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chrNW_004936580:4,675,612...4,678,264
Ensembl chrNW_004936580:4,675,606...4,678,249 		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 chrNW_004936580:5,316,748...5,320,364
Ensembl chrNW_004936580:5,316,616...5,322,158 		JBrowse link
G Lce6a late cornified envelope 6A ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chrNW_004936580:2,840,642...2,841,167 JBrowse link
G Lelp1 late cornified envelope like proline rich 1 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chrNW_004936580:3,099,195...3,099,524 JBrowse link
G Lenep lens epithelial protein ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chrNW_004936580:4,536,329...4,537,058 JBrowse link
G Lingo4 leucine rich repeat and Ig domain containing 4 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chrNW_004936580:1,991,218...1,993,210
Ensembl chrNW_004936580:1,991,396...1,995,697 		JBrowse link
G Lmna lamin A/C ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chrNW_004936580:5,374,208...5,395,442
Ensembl chrNW_004936580:5,373,974...5,395,468 		JBrowse link
G LOC101971622 trichohyalin ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chrNW_004936580:2,277,109...2,283,088 JBrowse link
G LOC101978306 polyamine-modulated factor 1 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chrNW_004936580:5,454,574...5,479,600
Ensembl chrNW_004936580:5,454,580...5,479,884 		JBrowse link
G Lysmd1 LysM domain containing 1 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chrNW_004936580:1,360,697...1,370,841
Ensembl chrNW_004936580:1,360,720...1,370,484 		JBrowse link
G Mcl1 MCL1 apoptosis regulator, BCL2 family member ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chrNW_004936580:803,452...806,966
Ensembl chrNW_004936580:804,903...806,796 		JBrowse link
G Mef2d myocyte enhancer factor 2D ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chrNW_004936580:5,660,306...5,685,333
Ensembl chrNW_004936580:5,660,016...5,675,166 		JBrowse link
G Mettl25b methyltransferase like 25B ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chrNW_004936580:5,883,977...5,892,476
Ensembl chrNW_004936580:5,883,996...5,894,464 		JBrowse link
G Mex3a mex-3 RNA binding family member A ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chrNW_004936580:5,334,026...5,339,536
Ensembl chrNW_004936580:5,334,575...5,339,507 		JBrowse link
G Mindy1 MINDY lysine 48 deubiquitinase 1 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chrNW_004936580:1,218,510...1,229,680
Ensembl chrNW_004936580:1,213,947...1,229,413 		JBrowse link
G Mllt11 MLLT11 transcription factor 7 cofactor ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chrNW_004936580:1,274,658...1,283,505 JBrowse link
G Mrpl24 mitochondrial ribosomal protein L24 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chrNW_004936580:5,892,964...5,897,602 JBrowse link
G Mrpl9 mitochondrial ribosomal protein L9 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chrNW_004936580:1,956,774...1,959,689 JBrowse link
G Mrps21 mitochondrial ribosomal protein S21 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chrNW_004936580:575,695...592,761 JBrowse link
G Msto1 misato mitochondrial distribution and morphology regulator 1 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chrNW_004936580:5,040,686...5,045,044
Ensembl chrNW_004936580:5,040,715...5,044,956 		JBrowse link
G Mtmr11 myotubularin related protein 11 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chrNW_004936580:265,747...274,507
Ensembl chrNW_004936580:266,396...274,087 		JBrowse link
G Mtx1 metaxin 1 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chrNW_004936580:4,710,024...4,715,411 JBrowse link
G Muc1 mucin 1, cell surface associated ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chrNW_004936580:4,691,870...4,694,092 JBrowse link
G Naxe NAD(P)HX epimerase ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chrNW_004936580:5,769,583...5,772,633
Ensembl chrNW_004936580:5,769,633...5,772,582 		JBrowse link
G Nes nestin ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chrNW_004936580:5,837,949...5,847,499
Ensembl chrNW_004936580:5,837,936...5,847,020 		JBrowse link
G Npr1 natriuretic peptide receptor 1 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chrNW_004936580:3,479,858...3,496,896
Ensembl chrNW_004936580:3,480,267...3,495,643 		JBrowse link
G Ntrk1 neurotrophic receptor tyrosine kinase 1 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chrNW_004936580:6,002,168...6,021,690
Ensembl chrNW_004936580:6,002,120...6,021,709 		JBrowse link
G Nup210l nucleoporin 210 like ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:17187068 PMID:28492532 NCBI chrNW_004936580:3,741,428...3,858,563
Ensembl chrNW_004936580:3,741,725...3,858,563 		JBrowse link
G Oaz3 ornithine decarboxylase antizyme 3 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chrNW_004936580:1,963,372...1,966,086
Ensembl chrNW_004936580:1,963,415...1,965,950 		JBrowse link
G Otud7b OTU deubiquitinase 7B ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chrNW_004936580:278,263...300,278
Ensembl chrNW_004936580:278,257...338,526 		JBrowse link
G Paqr6 progestin and adipoQ receptor family member 6 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chrNW_004936580:5,482,375...5,486,958
Ensembl chrNW_004936580:5,483,042...5,485,470 		JBrowse link
G Pbxip1 PBX homeobox interacting protein 1 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chrNW_004936580:4,496,112...4,505,968
Ensembl chrNW_004936580:4,495,099...4,503,252 		JBrowse link
G Pi4kb phosphatidylinositol 4-kinase beta ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chrNW_004936580:1,495,833...1,523,307
Ensembl chrNW_004936580:1,495,833...1,523,276 		JBrowse link
G Pip5k1a phosphatidylinositol-4-phosphate 5-kinase type 1 alpha ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chrNW_004936580:1,399,492...1,448,398
Ensembl chrNW_004936580:1,399,954...1,446,769 		JBrowse link
G Pklr pyruvate kinase L/R ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chrNW_004936580:4,770,977...4,799,316
Ensembl chrNW_004936580:4,767,109...4,779,916 		JBrowse link
G Plekho1 pleckstrin homology domain containing O1 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chrNW_004936580:440,111...448,651
Ensembl chrNW_004936580:440,087...447,202 		JBrowse link
G Pmvk phosphomevalonate kinase ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chrNW_004936580:4,473,554...4,482,396
Ensembl chrNW_004936580:4,473,359...4,482,631 		JBrowse link
G Pogz pogo transposable element derived with ZNF domain ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chrNW_004936580:1,613,425...1,650,849
Ensembl chrNW_004936580:1,615,713...1,650,874 		JBrowse link
G Prcc proline rich mitotic checkpoint control factor ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chrNW_004936580:5,927,575...5,954,636
Ensembl chrNW_004936580:5,927,847...5,953,796 		JBrowse link
G Prpf3 pre-mRNA processing factor 3 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chrNW_004936580:604,709...632,788
Ensembl chrNW_004936580:605,138...633,104 		JBrowse link
G Prr9 proline rich 9 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chrNW_004936580:3,110,276...3,110,626 JBrowse link
G Prune1 prune exopolyphosphatase 1 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chrNW_004936580:1,231,197...1,253,686
Ensembl chrNW_004936580:1,230,820...1,254,949 		JBrowse link
G Psmb4 proteasome 20S subunit beta 4 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chrNW_004936580:1,610,635...1,613,357
Ensembl chrNW_004936580:1,609,775...1,618,175 		JBrowse link
G Psmd4 proteasome 26S subunit ubiquitin receptor, non-ATPase 4 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chrNW_004936580:1,457,232...1,470,274
Ensembl chrNW_004936580:1,456,958...1,471,303 		JBrowse link
G Pygo2 pygopus family PHD finger 2 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chrNW_004936580:4,506,982...4,511,044
Ensembl chrNW_004936580:4,507,925...4,511,107 		JBrowse link
G Rab13 RAB13, member RAS oncogene family ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chrNW_004936580:3,728,952...3,733,126
Ensembl chrNW_004936580:3,728,892...3,733,167 		JBrowse link
G Rab25 RAB25, member RAS oncogene family ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chrNW_004936580:5,321,394...5,329,256
Ensembl chrNW_004936580:5,321,860...5,329,270 		JBrowse link
G Rfx5 regulatory factor X5 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chrNW_004936580:1,532,806...1,540,353
Ensembl chrNW_004936580:1,535,069...1,539,889 		JBrowse link
G Rhbg Rh family B glycoprotein ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chrNW_004936580:5,575,867...5,590,061
Ensembl chrNW_004936580:5,575,866...5,590,062 		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 chrNW_004936580:1,914,130...1,923,277
Ensembl chrNW_004936580:1,917,097...1,922,417 		JBrowse link
G Rit1 Ras like without CAAX 1 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chrNW_004936580:5,157,351...5,166,790
Ensembl chrNW_004936580:5,156,565...5,167,040 		JBrowse link
G Rorc RAR related orphan receptor C ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chrNW_004936580:1,997,640...2,020,649
Ensembl chrNW_004936580:1,997,640...2,020,649 		JBrowse link
G Rprd2 regulation of nuclear pre-mRNA domain containing 2 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chrNW_004936580:646,353...723,045
Ensembl chrNW_004936580:646,347...722,691 		JBrowse link
G Rps27 ribosomal protein S27 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:17187068 PMID:28492532 NCBI chrNW_004936580:3,740,088...3,741,343 JBrowse link
G Rptn repetin ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532
G Rusc1 RUN and SH3 domain containing 1 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chrNW_004936580:4,808,620...4,818,097
Ensembl chrNW_004936580:4,808,546...4,818,221 		JBrowse link
G Rxfp4 relaxin family peptide/INSL5 receptor 4 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chrNW_004936580:5,208,001...5,209,711
Ensembl chrNW_004936580:5,208,222...5,209,346 		JBrowse link
G S100a1 S100 calcium binding protein A1 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chrNW_004936580:3,429,697...3,433,567
Ensembl chrNW_004936580:3,427,212...3,434,577 		JBrowse link
G S100a10 S100 calcium binding protein A10 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chrNW_004936580:2,159,582...2,162,832
Ensembl chrNW_004936580:2,159,185...2,168,007 		JBrowse link
G S100a13 S100 calcium binding protein A13 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chrNW_004936580:3,420,016...3,429,009
Ensembl chrNW_004936580:3,420,016...3,428,955 		JBrowse link
G S100a14 S100 calcium binding protein A14 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chrNW_004936580:3,414,315...3,416,335
Ensembl chrNW_004936580:3,414,296...3,416,393 		JBrowse link
G S100a16 S100 calcium binding protein A16 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chrNW_004936580:3,407,044...3,413,277
Ensembl chrNW_004936580:3,406,962...3,409,717 		JBrowse link
G S100a2 S100 calcium binding protein A2 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chrNW_004936580:3,370,756...3,373,351
Ensembl chrNW_004936580:3,370,425...3,373,572 		JBrowse link
G S100a3 S100 calcium binding protein A3 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chrNW_004936580:3,359,247...3,360,226
Ensembl chrNW_004936580:3,359,188...3,360,594 		JBrowse link
G S100a4 S100 calcium binding protein A4 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chrNW_004936580:3,355,751...3,358,030
Ensembl chrNW_004936580:3,355,699...3,358,242 		JBrowse link
G S100a5 S100 calcium binding protein A5 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chrNW_004936580:3,349,655...3,353,601
Ensembl chrNW_004936580:3,349,641...3,353,697 		JBrowse link
G S100a6 S100 calcium binding protein A6 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chrNW_004936580:3,347,185...3,347,878
Ensembl chrNW_004936580:3,347,152...3,348,105 		JBrowse link
G S100a8 S100 calcium binding protein A8 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chrNW_004936580:3,256,399...3,256,913
Ensembl chrNW_004936580:3,256,417...3,256,913 		JBrowse link
G S100a9 S100 calcium binding protein A9 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chrNW_004936580:3,228,097...3,230,652
Ensembl chrNW_004936580:3,228,092...3,230,676 		JBrowse link
G Scamp3 secretory carrier membrane protein 3 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chrNW_004936580:4,740,520...4,745,871
Ensembl chrNW_004936580:4,740,520...4,745,870 		JBrowse link
G Selenbp1 selenium binding protein 1 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chrNW_004936580:1,573,208...1,584,266
Ensembl chrNW_004936580:1,573,150...1,581,921 		JBrowse link
G Sema4a semaphorin 4A ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chrNW_004936580:5,404,380...5,431,183
Ensembl chrNW_004936580:5,406,194...5,431,185 		JBrowse link
G Sema6c semaphorin 6C ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chrNW_004936580:1,331,950...1,347,327
Ensembl chrNW_004936580:1,276,013...1,343,347 		JBrowse link
G Setdb1 SET domain bifurcated histone lysine methyltransferase 1 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chrNW_004936580:1,146,286...1,192,842
Ensembl chrNW_004936580:1,146,277...1,192,842 		JBrowse link
G Sf3b4 splicing factor 3b subunit 4 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chrNW_004936580:260,013...265,057 JBrowse link
G Sh2d2a SH2 domain containing 2A ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chrNW_004936580:5,959,971...5,967,250
Ensembl chrNW_004936580:5,961,000...5,966,677 		JBrowse link
G Shc1 SHC adaptor protein 1 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chrNW_004936580:4,511,560...4,522,003
Ensembl chrNW_004936580:4,512,680...4,519,715 		JBrowse link
G She Src homology 2 domain containing E ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:17187068 PMID:28492532 NCBI chrNW_004936580:4,095,218...4,109,961
Ensembl chrNW_004936580:4,095,234...4,109,964 		JBrowse link
G Slc25a44 solute carrier family 25 member 44 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chrNW_004936580:5,435,841...5,454,396
Ensembl chrNW_004936580:5,435,730...5,454,759 		JBrowse link
G Slc27a3 solute carrier family 27 member 3 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chrNW_004936580:3,554,826...3,559,201
Ensembl chrNW_004936580:3,554,952...3,559,047 		JBrowse link
G Slc39a1 solute carrier family 39 member 1 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chrNW_004936580:3,704,738...3,708,671
Ensembl chrNW_004936580:3,704,723...3,708,677 		JBrowse link
G Slc50a1 solute carrier family 50 member 1 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chrNW_004936580:4,661,890...4,664,137
Ensembl chrNW_004936580:4,661,884...4,664,159 		JBrowse link
G Smg5 SMG5 nonsense mediated mRNA decay factor ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chrNW_004936580:5,487,522...5,516,448
Ensembl chrNW_004936580:5,487,533...5,516,521 		JBrowse link
G Snapin SNAP associated protein ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chrNW_004936580:3,449,585...3,464,709
Ensembl chrNW_004936580:3,462,987...3,464,214 		JBrowse link
G Snx27 sorting nexin 27 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chrNW_004936580:1,815,582...1,893,076
Ensembl chrNW_004936580:1,815,651...1,893,753 		JBrowse link
G Sprr4 small proline rich protein 4 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chrNW_004936580:2,943,192...2,943,722 JBrowse link
G Ssr2 signal sequence receptor subunit 2 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chrNW_004936580:5,270,411...5,277,435
Ensembl chrNW_004936580:5,270,384...5,276,732 		JBrowse link
G Syt11 synaptotagmin 11 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chrNW_004936580:5,123,196...5,142,976
Ensembl chrNW_004936580:5,129,865...5,142,885 		JBrowse link
G Tars2 threonyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chrNW_004936580:731,884...750,121
Ensembl chrNW_004936580:731,938...749,815 		JBrowse link
G Tchhl1 trichohyalin like 1 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chrNW_004936580:2,257,376...2,262,026 JBrowse link
G Tdrkh tudor and KH domain containing ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chrNW_004936580:1,968,001...1,982,073
Ensembl chrNW_004936580:1,967,639...1,982,134 		JBrowse link
G Thbs3 thrombospondin 3 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chrNW_004936580:4,699,255...4,709,200
Ensembl chrNW_004936580:4,698,623...4,709,200 		JBrowse link
G Them4 thioesterase superfamily member 4 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chrNW_004936580:2,058,960...2,085,919
Ensembl chrNW_004936580:2,058,643...2,085,945 		JBrowse link
G Them5 thioesterase superfamily member 5 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chrNW_004936580:2,036,595...2,044,053
Ensembl chrNW_004936580:2,036,704...2,043,897 		JBrowse link
G Tmem79 transmembrane protein 79 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chrNW_004936580:5,519,577...5,525,608
Ensembl chrNW_004936580:5,518,680...5,528,426 		JBrowse link
G Tmod4 tropomodulin 4 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chrNW_004936580:1,375,184...1,380,423
Ensembl chrNW_004936580:1,375,173...1,380,423 		JBrowse link
G Tnfaip8l2 TNF alpha induced protein 8 like 2 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chrNW_004936580:1,357,076...1,360,233
Ensembl chrNW_004936580:1,357,673...1,360,199 		JBrowse link
G Tpm3 tropomyosin 3 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:17187068 PMID:28492532 NCBI chrNW_004936580:3,860,185...3,893,251
Ensembl chrNW_004936580:3,860,190...3,889,978 		JBrowse link
G Trim46 tripartite motif containing 46 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chrNW_004936580:4,678,855...4,690,222
Ensembl chrNW_004936580:4,678,827...4,690,236 		JBrowse link
G Tsacc TSSK6 activating cochaperone ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chrNW_004936580:5,559,624...5,561,051
Ensembl chrNW_004936580:5,559,663...5,561,051 		JBrowse link
G Ttc24 tetratricopeptide repeat domain 24 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chrNW_004936580:5,758,792...5,766,327 JBrowse link
G Tuft1 tuftelin 1 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chrNW_004936580:1,746,957...1,788,989
Ensembl chrNW_004936580:1,761,526...1,788,695 		JBrowse link
G Ubap2l ubiquitin associated protein 2 like ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:17187068 PMID:28492532 NCBI chrNW_004936580:3,913,460...3,960,026
Ensembl chrNW_004936580:3,914,468...3,959,789 		JBrowse link
G Ube2q1 ubiquitin conjugating enzyme E2 Q1 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:17187068 PMID:28492532 NCBI chrNW_004936580:4,148,537...4,158,195
Ensembl chrNW_004936580:4,148,503...4,158,272 		JBrowse link
G Ubqln4 ubiquilin 4 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chrNW_004936580:5,299,864...5,316,583
Ensembl chrNW_004936580:5,301,389...5,315,756 		JBrowse link
G Vps45 vacuolar protein sorting 45 homolog ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chrNW_004936580:380,794...435,115
Ensembl chrNW_004936580:380,788...435,142 		JBrowse link
G Vps72 vacuolar protein sorting 72 homolog ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chrNW_004936580:1,381,454...1,395,319
Ensembl chrNW_004936580:1,381,440...1,395,332 		JBrowse link
G Zbtb7b zinc finger and BTB domain containing 7B ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chrNW_004936580:4,546,139...4,560,157
Ensembl chrNW_004936580:4,551,304...4,560,163 		JBrowse link
G Znf687 zinc finger protein 687 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chrNW_004936580:1,486,205...1,495,640
Ensembl chrNW_004936580:1,490,201...1,495,005 		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 OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:19011569 PMID:19118303 More... NCBI chrNW_004936541:556,413...561,336
Ensembl chrNW_004936541:556,307...561,333 		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 chrNW_004936580:4,588,182...4,598,659
Ensembl chrNW_004936580:4,588,039...4,599,014 		JBrowse link
G Adamtsl4 ADAMTS like 4 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chrNW_004936580:782,146...791,388
Ensembl chrNW_004936580:782,112...791,605 		JBrowse link
G Adar adenosine deaminase RNA specific ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chrNW_004936580:4,183,016...4,208,341
Ensembl chrNW_004936580:4,183,079...4,203,435 		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 chrNW_004936580:519,135...526,079 JBrowse link
G Anxa9 annexin A9 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chrNW_004936580:1,208,536...1,218,438
Ensembl chrNW_004936580:1,208,120...1,220,173 		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 chrNW_004936580:552,362...556,027
Ensembl chrNW_004936580:552,362...556,027 		JBrowse link
G Aqp10 aquaporin 10 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chrNW_004936580:3,981,254...3,984,895
Ensembl chrNW_004936580:3,980,659...3,984,394 		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 chrNW_004936580:5,213,323...5,230,861
Ensembl chrNW_004936580:5,214,401...5,245,021 		JBrowse link
G Arnt aryl hydrocarbon receptor nuclear translocator ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chrNW_004936580:1,038,420...1,093,319
Ensembl chrNW_004936580:1,036,973...1,082,984 		JBrowse link
G Ash1l ASH1 like histone lysine methyltransferase ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chrNW_004936580:4,821,384...4,997,112
Ensembl chrNW_004936580:4,820,142...4,997,112 		JBrowse link
G Atp8b2 ATPase phospholipid transporting 8B2 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chrNW_004936580:3,988,383...4,010,156
Ensembl chrNW_004936580:3,988,463...4,010,584 		JBrowse link
G Bcan brevican ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chrNW_004936580:5,816,196...5,828,531
Ensembl chrNW_004936580:5,816,359...5,828,126 		JBrowse link
G Bglap bone gamma-carboxyglutamate protein ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chrNW_004936580:5,480,023...5,482,288
Ensembl chrNW_004936580:5,481,355...5,482,155 		JBrowse link
G Bnipl BCL2 interacting protein like ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chrNW_004936580:1,254,525...1,264,380
Ensembl chrNW_004936580:1,254,822...1,265,031 		JBrowse link
G Ca14 carbonic anhydrase 14 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chrNW_004936580:545,221...552,071
Ensembl chrNW_004936580:544,852...555,089 		JBrowse link
G Cct3 chaperonin containing TCP1 subunit 3 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chrNW_004936580:5,537,338...5,554,384
Ensembl chrNW_004936580:5,537,015...5,554,384 		JBrowse link
G Cdc42se1 CDC42 small effector 1 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chrNW_004936580:1,268,202...1,276,485
Ensembl chrNW_004936580:1,268,195...1,276,361 		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 chrNW_004936580:1,897,694...1,911,817
Ensembl chrNW_004936580:1,899,877...1,911,348 		JBrowse link
G Cers2 ceramide synthase 2 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chrNW_004936580:1,192,843...1,201,863
Ensembl chrNW_004936580:1,192,847...1,201,909 		JBrowse link
G Cgn cingulin ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chrNW_004936580:1,719,743...1,744,265 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 chrNW_004936580:4,165,255...4,179,285
Ensembl chrNW_004936580:4,166,619...4,186,443 		JBrowse link
G Chtop chromatin target of PRMT1 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chrNW_004936580:3,436,260...3,444,522
Ensembl chrNW_004936580:3,434,773...3,445,080 		JBrowse link
G Ciart circadian associated repressor of transcription ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chrNW_004936580:566,745...571,160 JBrowse link
G Clk2 CDC like kinase 2 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chrNW_004936580:4,746,276...4,758,236
Ensembl chrNW_004936580:4,746,276...4,756,230 		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 chrNW_004936580:5,861,051...5,866,818
Ensembl chrNW_004936580:5,860,562...5,866,856 		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 chrNW_004936580:3,715,122...3,720,154
Ensembl chrNW_004936580:3,715,027...3,724,282 		JBrowse link
G Crnn cornulin ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chrNW_004936580:2,513,644...2,517,221 JBrowse link
G Crtc2 CREB regulated transcription coactivator 2 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chrNW_004936580:3,693,429...3,704,104
Ensembl chrNW_004936580:3,693,430...3,704,104 		JBrowse link
G Ctsk cathepsin K ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chrNW_004936580:1,022,762...1,038,020
Ensembl chrNW_004936580:1,022,762...1,034,984 		JBrowse link
G Ctss cathepsin S ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chrNW_004936580:963,176...991,732
Ensembl chrNW_004936580:963,153...991,442 		JBrowse link
G CUNH1orf189 chromosome unknown C1orf189 homolog ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chrNW_004936580:3,897,637...3,902,196
Ensembl chrNW_004936580:3,897,637...3,902,170 		JBrowse link
G CUNH1orf43 chromosome unknown C1orf43 homolog ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chrNW_004936580:3,902,345...3,914,293
Ensembl chrNW_004936580:3,906,135...3,914,298 		JBrowse link
G CUNH1orf54 chromosome unknown C1orf54 homolog ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chrNW_004936580:557,992...563,957
Ensembl chrNW_004936580:557,976...563,969 		JBrowse link
G CUNH1orf56 chromosome unknown C1orf56 homolog ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chrNW_004936580:1,264,883...1,268,097 JBrowse link
G Dap3 death associated protein 3 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chrNW_004936580:4,996,703...5,032,203
Ensembl chrNW_004936580:4,997,969...5,031,956 		JBrowse link
G Dcst1 DC-STAMP domain containing 1 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chrNW_004936580:4,571,349...4,586,459
Ensembl chrNW_004936580:4,571,319...4,586,394 		JBrowse link
G Dcst2 DC-STAMP domain containing 2 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chrNW_004936580:4,561,423...4,571,109
Ensembl chrNW_004936580:4,563,735...4,571,079 		JBrowse link
G Dennd4b DENN domain containing 4B ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chrNW_004936580:3,677,594...3,691,531
Ensembl chrNW_004936580:3,676,267...3,691,537 		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 chrNW_004936580:4,664,653...4,665,199
Ensembl chrNW_004936580:4,664,653...4,665,188 		JBrowse link
G Ecm1 extracellular matrix protein 1 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chrNW_004936580:750,423...756,765
Ensembl chrNW_004936580:750,736...756,771 		JBrowse link
G Efna1 ephrin A1 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chrNW_004936580:4,654,503...4,660,950
Ensembl chrNW_004936580:4,654,503...4,660,966 		JBrowse link
G Efna3 ephrin A3 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chrNW_004936580:4,613,847...4,622,834
Ensembl chrNW_004936580:4,613,847...4,621,208 		JBrowse link
G Efna4 ephrin A4 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chrNW_004936580:4,598,748...4,604,293
Ensembl chrNW_004936580:4,599,136...4,604,257 		JBrowse link
G Ensa endosulfine alpha ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chrNW_004936580:803,452...859,215
Ensembl chrNW_004936580:851,907...859,213 		JBrowse link
G Entrep3 endosomal transmembrane epsin interactor 3 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chrNW_004936580:4,733,083...4,740,136
Ensembl chrNW_004936580:4,731,036...4,740,099 		JBrowse link
G Fdps farnesyl diphosphate synthase ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chrNW_004936580:4,799,354...4,808,406 JBrowse link
G Flad1 flavin adenine dinucleotide synthetase 1 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chrNW_004936580:4,530,007...4,535,909
Ensembl chrNW_004936580:4,530,006...4,536,730 		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 chrNW_004936580:1,283,593...1,323,110
Ensembl chrNW_004936580:1,290,991...1,321,925 		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 chrNW_004936580:3,579,119...3,597,644
Ensembl chrNW_004936580:3,579,119...3,597,667 		JBrowse link
G Gba1 glucosylceramidase beta 1 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chrNW_004936580:4,715,869...4,720,752
Ensembl chrNW_004936580:4,715,408...4,720,798 		JBrowse link
G Glmp glycosylated lysosomal membrane protein ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chrNW_004936580:5,526,101...5,528,984
Ensembl chrNW_004936580:5,524,678...5,529,025 		JBrowse link
G Golph3l golgi phosphoprotein 3 like ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chrNW_004936580:890,078...931,907
Ensembl chrNW_004936580:890,063...931,951 		JBrowse link
G Gon4l gon-4 like ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chrNW_004936580:5,044,536...5,124,575 JBrowse link
G Gpatch4 G-patch domain containing 4 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chrNW_004936580:5,773,076...5,781,288
Ensembl chrNW_004936580:5,769,541...5,781,325 		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 chrNW_004936580:5,792,421...5,811,096 JBrowse link
G Hax1 HCLS1 associated protein X-1 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chrNW_004936580:3,961,433...3,964,322
Ensembl chrNW_004936580:3,961,441...3,964,322 		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 chrNW_004936580:4,760,289...4,770,571
Ensembl chrNW_004936580:4,760,241...4,772,583 		JBrowse link
G Hdgf heparin binding growth factor ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chrNW_004936580:5,899,277...5,909,309
Ensembl chrNW_004936580:5,900,528...5,908,938 		JBrowse link
G Hormad1 HORMA domain containing 1 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chrNW_004936580:933,123...956,201
Ensembl chrNW_004936580:933,365...954,486 		JBrowse link
G Il6r interleukin 6 receptor ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chrNW_004936580:4,055,438...4,081,876
Ensembl chrNW_004936580:4,057,771...4,081,885 		JBrowse link
G Ilf2 interleukin enhancer binding factor 2 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chrNW_004936580:3,464,870...3,472,242 JBrowse link
G Insrr insulin receptor related receptor ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chrNW_004936580:5,982,259...5,999,994
Ensembl chrNW_004936580:5,983,006...5,999,994 		JBrowse link
G Ints3 integrator complex subunit 3 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chrNW_004936580:3,511,364...3,553,441
Ensembl chrNW_004936580:3,511,311...3,553,756 		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 chrNW_004936580:5,712,118...5,751,721
Ensembl chrNW_004936580:5,713,156...5,751,721 		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 chrNW_004936580:5,876,488...5,883,850
Ensembl chrNW_004936580:5,876,248...5,884,314 		JBrowse link
G Ivl involucrin ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chrNW_004936580:2,892,316...2,894,085 JBrowse link
G Jtb jumping translocation breakpoint ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chrNW_004936580:3,720,252...3,722,375 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 chrNW_004936580:4,277,219...4,426,242
Ensembl chrNW_004936580:4,277,217...4,426,493 		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 chrNW_004936580:5,167,930...5,188,334
Ensembl chrNW_004936580:5,167,930...5,188,460 		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 chrNW_004936580:2,726,139...2,726,981
Ensembl chrNW_004936580:2,725,518...2,726,994 		JBrowse link
G Kprp keratinocyte proline rich protein ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chrNW_004936580:2,761,588...2,763,435
Ensembl chrNW_004936580:2,761,588...2,763,435 		JBrowse link
G Krtcap2 keratinocyte associated protein 2 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chrNW_004936580:4,675,612...4,678,264
Ensembl chrNW_004936580:4,675,606...4,678,249 		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 chrNW_004936580:5,316,748...5,320,364
Ensembl chrNW_004936580:5,316,616...5,322,158 		JBrowse link
G Lce6a late cornified envelope 6A ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chrNW_004936580:2,840,642...2,841,167 JBrowse link
G Lelp1 late cornified envelope like proline rich 1 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chrNW_004936580:3,099,195...3,099,524 JBrowse link
G Lenep lens epithelial protein ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chrNW_004936580:4,536,329...4,537,058 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 chrNW_004936580:1,991,218...1,993,210
Ensembl chrNW_004936580:1,991,396...1,995,697 		JBrowse link
G Lmna lamin A/C ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chrNW_004936580:5,374,208...5,395,442
Ensembl chrNW_004936580:5,373,974...5,395,468 		JBrowse link
G LOC101971622 trichohyalin ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chrNW_004936580:2,277,109...2,283,088 JBrowse link
G LOC101978306 polyamine-modulated factor 1 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chrNW_004936580:5,454,574...5,479,600
Ensembl chrNW_004936580:5,454,580...5,479,884 		JBrowse link
G Lysmd1 LysM domain containing 1 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chrNW_004936580:1,360,697...1,370,841
Ensembl chrNW_004936580:1,360,720...1,370,484 		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 chrNW_004936580:803,452...806,966
Ensembl chrNW_004936580:804,903...806,796 		JBrowse link
G Mef2d myocyte enhancer factor 2D ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chrNW_004936580:5,660,306...5,685,333
Ensembl chrNW_004936580:5,660,016...5,675,166 		JBrowse link
G Mettl25b methyltransferase like 25B ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chrNW_004936580:5,883,977...5,892,476
Ensembl chrNW_004936580:5,883,996...5,894,464 		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 chrNW_004936580:5,334,026...5,339,536
Ensembl chrNW_004936580:5,334,575...5,339,507 		JBrowse link
G Mindy1 MINDY lysine 48 deubiquitinase 1 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chrNW_004936580:1,218,510...1,229,680
Ensembl chrNW_004936580:1,213,947...1,229,413 		JBrowse link
G Mllt11 MLLT11 transcription factor 7 cofactor ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chrNW_004936580:1,274,658...1,283,505 JBrowse link
G Mrpl24 mitochondrial ribosomal protein L24 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chrNW_004936580:5,892,964...5,897,602 JBrowse link
G Mrpl9 mitochondrial ribosomal protein L9 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chrNW_004936580:1,956,774...1,959,689 JBrowse link
G Mrps21 mitochondrial ribosomal protein S21 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chrNW_004936580:575,695...592,761 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 chrNW_004936580:5,040,686...5,045,044
Ensembl chrNW_004936580:5,040,715...5,044,956 		JBrowse link
G Mtmr11 myotubularin related protein 11 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chrNW_004936580:265,747...274,507
Ensembl chrNW_004936580:266,396...274,087 		JBrowse link
G Mtx1 metaxin 1 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chrNW_004936580:4,710,024...4,715,411 JBrowse link
G Muc1 mucin 1, cell surface associated ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chrNW_004936580:4,691,870...4,694,092 JBrowse link
G Naxe NAD(P)HX epimerase ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chrNW_004936580:5,769,583...5,772,633
Ensembl chrNW_004936580:5,769,633...5,772,582 		JBrowse link
G Nes nestin ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chrNW_004936580:5,837,949...5,847,499
Ensembl chrNW_004936580:5,837,936...5,847,020 		JBrowse link
G Npr1 natriuretic peptide receptor 1 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chrNW_004936580:3,479,858...3,496,896
Ensembl chrNW_004936580:3,480,267...3,495,643 		JBrowse link
G Ntrk1 neurotrophic receptor tyrosine kinase 1 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chrNW_004936580:6,002,168...6,021,690
Ensembl chrNW_004936580:6,002,120...6,021,709 		JBrowse link
G Nup210l nucleoporin 210 like ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chrNW_004936580:3,741,428...3,858,563
Ensembl chrNW_004936580:3,741,725...3,858,563 		JBrowse link
G Oaz3 ornithine decarboxylase antizyme 3 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chrNW_004936580:1,963,372...1,966,086
Ensembl chrNW_004936580:1,963,415...1,965,950 		JBrowse link
G Otud7b OTU deubiquitinase 7B ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chrNW_004936580:278,263...300,278
Ensembl chrNW_004936580:278,257...338,526 		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 chrNW_004936580:5,482,375...5,486,958
Ensembl chrNW_004936580:5,483,042...5,485,470 		JBrowse link
G Pbxip1 PBX homeobox interacting protein 1 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chrNW_004936580:4,496,112...4,505,968
Ensembl chrNW_004936580:4,495,099...4,503,252 		JBrowse link
G Pi4kb phosphatidylinositol 4-kinase beta ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chrNW_004936580:1,495,833...1,523,307
Ensembl chrNW_004936580:1,495,833...1,523,276 		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 chrNW_004936580:1,399,492...1,448,398
Ensembl chrNW_004936580:1,399,954...1,446,769 		JBrowse link
G Pklr pyruvate kinase L/R ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chrNW_004936580:4,770,977...4,799,316
Ensembl chrNW_004936580:4,767,109...4,779,916 		JBrowse link
G Plekho1 pleckstrin homology domain containing O1 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chrNW_004936580:440,111...448,651
Ensembl chrNW_004936580:440,087...447,202 		JBrowse link
G Pmvk phosphomevalonate kinase ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chrNW_004936580:4,473,554...4,482,396
Ensembl chrNW_004936580:4,473,359...4,482,631 		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 chrNW_004936580:1,613,425...1,650,849
Ensembl chrNW_004936580:1,615,713...1,650,874 		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 chrNW_004936580:5,927,575...5,954,636
Ensembl chrNW_004936580:5,927,847...5,953,796 		JBrowse link
G Prpf3 pre-mRNA processing factor 3 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chrNW_004936580:604,709...632,788
Ensembl chrNW_004936580:605,138...633,104 		JBrowse link
G Prr9 proline rich 9 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chrNW_004936580:3,110,276...3,110,626 JBrowse link
G Prune1 prune exopolyphosphatase 1 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chrNW_004936580:1,231,197...1,253,686
Ensembl chrNW_004936580:1,230,820...1,254,949 		JBrowse link
G Psmb4 proteasome 20S subunit beta 4 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chrNW_004936580:1,610,635...1,613,357
Ensembl chrNW_004936580:1,609,775...1,618,175 		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 chrNW_004936580:1,457,232...1,470,274
Ensembl chrNW_004936580:1,456,958...1,471,303 		JBrowse link
G Pygo2 pygopus family PHD finger 2 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chrNW_004936580:4,506,982...4,511,044
Ensembl chrNW_004936580:4,507,925...4,511,107 		JBrowse link
G Rab13 RAB13, member RAS oncogene family ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chrNW_004936580:3,728,952...3,733,126
Ensembl chrNW_004936580:3,728,892...3,733,167 		JBrowse link
G Rab25 RAB25, member RAS oncogene family ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chrNW_004936580:5,321,394...5,329,256
Ensembl chrNW_004936580:5,321,860...5,329,270 		JBrowse link
G Rfx5 regulatory factor X5 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chrNW_004936580:1,532,806...1,540,353
Ensembl chrNW_004936580:1,535,069...1,539,889 		JBrowse link
G Rhbg Rh family B glycoprotein ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chrNW_004936580:5,575,867...5,590,061
Ensembl chrNW_004936580:5,575,866...5,590,062 		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 chrNW_004936580:1,914,130...1,923,277
Ensembl chrNW_004936580:1,917,097...1,922,417 		JBrowse link
G Rit1 Ras like without CAAX 1 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chrNW_004936580:5,157,351...5,166,790
Ensembl chrNW_004936580:5,156,565...5,167,040 		JBrowse link
G Rorc RAR related orphan receptor C ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chrNW_004936580:1,997,640...2,020,649
Ensembl chrNW_004936580:1,997,640...2,020,649 		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 chrNW_004936580:646,353...723,045
Ensembl chrNW_004936580:646,347...722,691 		JBrowse link
G Rps27 ribosomal protein S27 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chrNW_004936580:3,740,088...3,741,343 JBrowse link
G Rptn repetin ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532
G Rusc1 RUN and SH3 domain containing 1 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chrNW_004936580:4,808,620...4,818,097
Ensembl chrNW_004936580:4,808,546...4,818,221 		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 chrNW_004936580:5,208,001...5,209,711
Ensembl chrNW_004936580:5,208,222...5,209,346 		JBrowse link
G S100a1 S100 calcium binding protein A1 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chrNW_004936580:3,429,697...3,433,567
Ensembl chrNW_004936580:3,427,212...3,434,577 		JBrowse link
G S100a10 S100 calcium binding protein A10 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chrNW_004936580:2,159,582...2,162,832
Ensembl chrNW_004936580:2,159,185...2,168,007 		JBrowse link
G S100a13 S100 calcium binding protein A13 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chrNW_004936580:3,420,016...3,429,009
Ensembl chrNW_004936580:3,420,016...3,428,955 		JBrowse link
G S100a14 S100 calcium binding protein A14 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chrNW_004936580:3,414,315...3,416,335
Ensembl chrNW_004936580:3,414,296...3,416,393 		JBrowse link
G S100a16 S100 calcium binding protein A16 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chrNW_004936580:3,407,044...3,413,277
Ensembl chrNW_004936580:3,406,962...3,409,717 		JBrowse link
G S100a2 S100 calcium binding protein A2 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chrNW_004936580:3,370,756...3,373,351
Ensembl chrNW_004936580:3,370,425...3,373,572 		JBrowse link
G S100a3 S100 calcium binding protein A3 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chrNW_004936580:3,359,247...3,360,226
Ensembl chrNW_004936580:3,359,188...3,360,594 		JBrowse link
G S100a4 S100 calcium binding protein A4 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chrNW_004936580:3,355,751...3,358,030
Ensembl chrNW_004936580:3,355,699...3,358,242 		JBrowse link
G S100a5 S100 calcium binding protein A5 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chrNW_004936580:3,349,655...3,353,601
Ensembl chrNW_004936580:3,349,641...3,353,697 		JBrowse link
G S100a6 S100 calcium binding protein A6 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chrNW_004936580:3,347,185...3,347,878
Ensembl chrNW_004936580:3,347,152...3,348,105 		JBrowse link
G S100a8 S100 calcium binding protein A8 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chrNW_004936580:3,256,399...3,256,913
Ensembl chrNW_004936580:3,256,417...3,256,913 		JBrowse link
G S100a9 S100 calcium binding protein A9 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chrNW_004936580:3,228,097...3,230,652
Ensembl chrNW_004936580:3,228,092...3,230,676 		JBrowse link
G Scamp3 secretory carrier membrane protein 3 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chrNW_004936580:4,740,520...4,745,871
Ensembl chrNW_004936580:4,740,520...4,745,870 		JBrowse link
G Selenbp1 selenium binding protein 1 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chrNW_004936580:1,573,208...1,584,266
Ensembl chrNW_004936580:1,573,150...1,581,921 		JBrowse link
G Sema4a semaphorin 4A ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chrNW_004936580:5,404,380...5,431,183
Ensembl chrNW_004936580:5,406,194...5,431,185 		JBrowse link
G Sema6c semaphorin 6C ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chrNW_004936580:1,331,950...1,347,327
Ensembl chrNW_004936580:1,276,013...1,343,347 		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 chrNW_004936580:1,146,286...1,192,842
Ensembl chrNW_004936580:1,146,277...1,192,842 		JBrowse link
G Sf3b4 splicing factor 3b subunit 4 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chrNW_004936580:260,013...265,057 JBrowse link
G Sh2d2a SH2 domain containing 2A ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chrNW_004936580:5,959,971...5,967,250
Ensembl chrNW_004936580:5,961,000...5,966,677 		JBrowse link
G Shc1 SHC adaptor protein 1 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chrNW_004936580:4,511,560...4,522,003
Ensembl chrNW_004936580:4,512,680...4,519,715 		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 chrNW_004936580:4,095,218...4,109,961
Ensembl chrNW_004936580:4,095,234...4,109,964 		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 chrNW_004936580:5,435,841...5,454,396
Ensembl chrNW_004936580:5,435,730...5,454,759 		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 chrNW_004936580:3,554,826...3,559,201
Ensembl chrNW_004936580:3,554,952...3,559,047 		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 chrNW_004936580:3,704,738...3,708,671
Ensembl chrNW_004936580:3,704,723...3,708,677 		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 chrNW_004936580:4,661,890...4,664,137
Ensembl chrNW_004936580:4,661,884...4,664,159 		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 chrNW_004936580:5,487,522...5,516,448
Ensembl chrNW_004936580:5,487,533...5,516,521 		JBrowse link
G Snapin SNAP associated protein ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chrNW_004936580:3,449,585...3,464,709
Ensembl chrNW_004936580:3,462,987...3,464,214 		JBrowse link
G Snx27 sorting nexin 27 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chrNW_004936580:1,815,582...1,893,076
Ensembl chrNW_004936580:1,815,651...1,893,753 		JBrowse link
G Sprr4 small proline rich protein 4 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chrNW_004936580:2,943,192...2,943,722 JBrowse link
G Ssr2 signal sequence receptor subunit 2 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chrNW_004936580:5,270,411...5,277,435
Ensembl chrNW_004936580:5,270,384...5,276,732 		JBrowse link
G Syt11 synaptotagmin 11 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chrNW_004936580:5,123,196...5,142,976
Ensembl chrNW_004936580:5,129,865...5,142,885 		JBrowse link
G Tars2 threonyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chrNW_004936580:731,884...750,121
Ensembl chrNW_004936580:731,938...749,815 		JBrowse link
G Tchhl1 trichohyalin like 1 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chrNW_004936580:2,257,376...2,262,026 JBrowse link
G Tdrkh tudor and KH domain containing ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chrNW_004936580:1,968,001...1,982,073
Ensembl chrNW_004936580:1,967,639...1,982,134 		JBrowse link
G Thbs3 thrombospondin 3 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chrNW_004936580:4,699,255...4,709,200
Ensembl chrNW_004936580:4,698,623...4,709,200 		JBrowse link
G Them4 thioesterase superfamily member 4 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chrNW_004936580:2,058,960...2,085,919
Ensembl chrNW_004936580:2,058,643...2,085,945 		JBrowse link
G Them5 thioesterase superfamily member 5 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chrNW_004936580:2,036,595...2,044,053
Ensembl chrNW_004936580:2,036,704...2,043,897 		JBrowse link
G Tmem79 transmembrane protein 79 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chrNW_004936580:5,519,577...5,525,608
Ensembl chrNW_004936580:5,518,680...5,528,426 		JBrowse link
G Tmod4 tropomodulin 4 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chrNW_004936580:1,375,184...1,380,423
Ensembl chrNW_004936580:1,375,173...1,380,423 		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 chrNW_004936580:1,357,076...1,360,233
Ensembl chrNW_004936580:1,357,673...1,360,199 		JBrowse link
G Tpm3 tropomyosin 3 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chrNW_004936580:3,860,185...3,893,251
Ensembl chrNW_004936580:3,860,190...3,889,978 		JBrowse link
G Trim46 tripartite motif containing 46 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chrNW_004936580:4,678,855...4,690,222
Ensembl chrNW_004936580:4,678,827...4,690,236 		JBrowse link
G Tsacc TSSK6 activating cochaperone ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chrNW_004936580:5,559,624...5,561,051
Ensembl chrNW_004936580:5,559,663...5,561,051 		JBrowse link
G Ttc24 tetratricopeptide repeat domain 24 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chrNW_004936580:5,758,792...5,766,327 JBrowse link
G Tuft1 tuftelin 1 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chrNW_004936580:1,746,957...1,788,989
Ensembl chrNW_004936580:1,761,526...1,788,695 		JBrowse link
G Ubap2l ubiquitin associated protein 2 like ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chrNW_004936580:3,913,460...3,960,026
Ensembl chrNW_004936580:3,914,468...3,959,789 		JBrowse link
G Ube2q1 ubiquitin conjugating enzyme E2 Q1 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chrNW_004936580:4,148,537...4,158,195
Ensembl chrNW_004936580:4,148,503...4,158,272 		JBrowse link
G Ubqln4 ubiquilin 4 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chrNW_004936580:5,299,864...5,316,583
Ensembl chrNW_004936580:5,301,389...5,315,756 		JBrowse link
G Vps45 vacuolar protein sorting 45 homolog ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:23599270 PMID:23738510 PMID:25640679 More... NCBI chrNW_004936580:380,794...435,115
Ensembl chrNW_004936580:380,788...435,142 		JBrowse link
G Vps72 vacuolar protein sorting 72 homolog ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chrNW_004936580:1,381,454...1,395,319
Ensembl chrNW_004936580:1,381,440...1,395,332 		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 chrNW_004936580:4,546,139...4,560,157
Ensembl chrNW_004936580:4,551,304...4,560,163 		JBrowse link
G Znf687 zinc finger protein 687 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chrNW_004936580:1,486,205...1,495,640
Ensembl chrNW_004936580:1,490,201...1,495,005 		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 chrNW_004936602:3,147,773...3,155,739
Ensembl chrNW_004936602:3,148,567...3,155,736 		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 chrNW_004936602:3,312,146...3,323,009
Ensembl chrNW_004936602:3,313,208...3,322,604 		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 chrNW_004936602:3,258,029...3,267,231
Ensembl chrNW_004936602:3,255,227...3,267,187 		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 chrNW_004936602:3,220,545...3,239,913
Ensembl chrNW_004936602:3,220,253...3,240,050 		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 chrNW_004936602:3,162,177...3,220,468
Ensembl chrNW_004936602:3,161,960...3,209,868 		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 chrNW_004936602:3,160,505...3,161,374
Ensembl chrNW_004936602:3,160,508...3,161,044 		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 chrNW_004936602:3,267,397...3,281,985
Ensembl chrNW_004936602:3,267,425...3,282,040 		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 chrNW_004936602:3,282,792...3,294,396
Ensembl chrNW_004936602:3,283,294...3,294,324 		JBrowse link
G Jagn1 jagunal homolog 1 ISO ClinVar Annotator: match by term: Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:25129144 PMID:25741868 PMID:25851723 More... NCBI chrNW_004936602:3,300,685...3,303,509
Ensembl chrNW_004936602:3,298,348...3,303,555 		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 chrNW_004936602:3,252,655...3,257,400
Ensembl chrNW_004936602:3,248,628...3,257,291 		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 chrNW_004936602:3,135,790...3,140,622 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 OMIM
ClinVar		 PMID:9536098 PMID:10449521 PMID:16199547 PMID:17576681 PMID:23604229 More... NCBI chrNW_004936474:18,877,036...18,887,574
Ensembl chrNW_004936474:18,877,375...18,887,530 		JBrowse link
severe congenital neutropenia 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC101965130 signal recognition particle 54 kDa protein ISO ClinVar Annotator: match by term: Neutropenia, severe congenital, 8, autosomal dominant OMIM
ClinVar		 PMID:28492532 PMID:28972538 PMID:29914977 NCBI chrNW_004936494:9,183,620...9,220,510
Ensembl chrNW_004936494:9,227,321...9,246,955
Ensembl chrNW_004936494:9,227,321...9,246,955 		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 caseinolytic mitochondrial matrix peptidase chaperone subunit B ISO ClinVar Annotator: match by term: Neutropenia, severe congenital, 9, autosomal dominant OMIM
ClinVar		 PMID:28492532 PMID:34115842 NCBI chrNW_004936498:1,590,655...1,730,815
Ensembl chrNW_004936498:1,590,655...1,730,815 		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 ClinVar Annotator: match by term: WHIM syndrome 1 | ClinVar Annotator: match by term: Warts, hypogammaglobulinemia, infections, and myelokathexis OMIM
ClinVar		 PMID:12692554 PMID:15026312 PMID:15536153 PMID:16275383 PMID:16899028 More... NCBI chrNW_004936469:39,794,613...39,798,448
Ensembl chrNW_004936469:39,794,584...39,798,459 		JBrowse link
G Dars1 aspartyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Warts, hypogammaglobulinemia, infections, and myelokathexis ClinVar PMID:28492532 NCBI chrNW_004936469:39,921,182...39,979,297
Ensembl chrNW_004936469:39,921,120...39,979,323 		JBrowse link
G Lct lactase ISO ClinVar Annotator: match by term: Warts, hypogammaglobulinemia, infections, and myelokathexis ClinVar PMID:28492532 NCBI chrNW_004936469:40,064,822...40,108,423
Ensembl chrNW_004936469:40,064,822...40,107,447 		JBrowse link
G Mcm6 minichromosome maintenance complex component 6 ISO ClinVar Annotator: match by term: Warts, hypogammaglobulinemia, infections, and myelokathexis ClinVar PMID:28492532 NCBI chrNW_004936469:40,014,892...40,059,571
Ensembl chrNW_004936469:40,014,863...40,059,580 		JBrowse link
G R3hdm1 R3H domain containing 1 ISO ClinVar Annotator: match by term: Warts, hypogammaglobulinemia, infections, and myelokathexis ClinVar PMID:28492532 NCBI chrNW_004936469:40,162,670...40,328,016
Ensembl chrNW_004936469:40,162,576...40,328,147 		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 chrNW_004936469:40,642,240...40,727,831
Ensembl chrNW_004936469:40,641,928...40,727,837 		JBrowse link
G Ubxn4 UBX domain protein 4 ISO ClinVar Annotator: match by term: Warts, hypogammaglobulinemia, infections, and myelokathexis ClinVar PMID:28492532 NCBI chrNW_004936469:40,109,276...40,147,088
Ensembl chrNW_004936469:40,111,658...40,147,181 		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 chrNW_004936469:40,328,850...40,558,797
Ensembl chrNW_004936469:40,328,787...40,609,533 		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 OMIM
ClinVar		 PMID:871527 PMID:11809723 PMID:12200364 PMID:14691578 PMID:15895080 More... NCBI chrNW_004936721:742,862...750,843
Ensembl chrNW_004936721:742,862...750,768 		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 chrNW_004936721:1,692,623...1,700,256
Ensembl chrNW_004936721:1,692,623...1,702,348 		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_004936502:13,323,365...13,335,003
Ensembl chrNW_004936502:13,323,355...13,335,224 		JBrowse link
G Bmp15 bone morphogenetic protein 15 ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:28492532 NCBI chrNW_004936873:109,156...115,498 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_004936721:1,078,570...1,106,153
Ensembl chrNW_004936721:1,078,650...1,106,113 		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_004936721:954,188...971,507
Ensembl chrNW_004936721:964,603...969,992 		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_004936721:1,107,697...1,118,313
Ensembl chrNW_004936721:1,107,866...1,118,050 		JBrowse link
G Ccnb3 cyclin B3 ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:28492532 NCBI chrNW_004936721:1,729,979...1,782,399 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_004936502:12,987,736...13,000,186
Ensembl chrNW_004936502:12,987,731...13,000,186 		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_004936502:13,391,613...13,398,723
Ensembl chrNW_004936502:13,391,535...13,397,440 		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_004936721:1,552,312...1,602,360
Ensembl chrNW_004936721:1,445,779...1,596,814 		JBrowse link
G Dgkk diacylglycerol kinase kappa ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:28492532 NCBI chrNW_004936721:1,804,746...1,934,854
Ensembl chrNW_004936721:1,804,746...1,934,527 		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_004936721:508,716...515,968
Ensembl chrNW_004936721:509,374...515,918 		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_004936502:13,402,726...13,418,214
Ensembl chrNW_004936502:13,402,728...13,418,214 		JBrowse link
G Eras ES cell expressed Ras ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:28492532 NCBI chrNW_004936721:782,343...783,591
Ensembl chrNW_004936721:782,525...783,208 		JBrowse link
G Foxp3 forkhead box P3 ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:28492532 NCBI chrNW_004936721:1,118,376...1,125,282
Ensembl chrNW_004936721:1,118,782...1,132,308 		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_004936721:453,789...466,425
Ensembl chrNW_004936721:453,790...466,360 		JBrowse link
G Gata1 GATA binding protein 1 ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:28492532 NCBI chrNW_004936721:742,862...750,843
Ensembl chrNW_004936721:742,862...750,768 		JBrowse link
G Glod5 glyoxalase domain containing 5 ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:28492532 NCBI chrNW_004936721:719,660...731,800
Ensembl chrNW_004936721:719,651...732,078 		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_004936721:1,013,776...1,031,018
Ensembl chrNW_004936721:1,011,492...1,031,440 		JBrowse link
G Gripap1 GRIP1 associated protein 1 ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:28492532 NCBI chrNW_004936721:892,704...916,965
Ensembl chrNW_004936721:891,824...916,984 		JBrowse link
G Hdac6 histone deacetylase 6 ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:28492532 NCBI chrNW_004936721:757,500...778,416
Ensembl chrNW_004936721:758,181...778,053 		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_004936502:12,727,685...12,863,074
Ensembl chrNW_004936502:12,727,649...12,863,083 		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_004936721:881,162...890,939
Ensembl chrNW_004936721:880,774...889,874 		JBrowse link
G LOC101954588 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_004936721:288,584...342,402
Ensembl chrNW_004936721:289,508...323,119 		JBrowse link
G LOC101961846 neutrophil elastase ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:24033266 NCBI chrNW_004936588:345,678...347,420
Ensembl chrNW_004936588:345,678...347,413 		JBrowse link
G LOC110599509 uncharacterized LOC110599509 ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:28492532 NCBI chrNW_004936721:1,347,679...1,350,598 JBrowse link
G Magix MAGI family member, X-linked ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:28492532 NCBI chrNW_004936721:1,039,098...1,044,286
Ensembl chrNW_004936721:1,039,481...1,044,030 		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_004936502:12,921,371...12,923,702
Ensembl chrNW_004936502:12,921,370...12,923,683 		JBrowse link
G Otud5 OTU deubiquitinase 5 ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:28492532 NCBI chrNW_004936721:847,360...876,912
Ensembl chrNW_004936721:848,324...877,068 		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_004936721:783,973...787,712
Ensembl chrNW_004936721:782,032...787,952 		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_004936721:839,876...844,488
Ensembl chrNW_004936721:839,874...844,488 		JBrowse link
G Plp2 proteolipid protein 2 ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:28492532 NCBI chrNW_004936721:1,047,261...1,050,647
Ensembl chrNW_004936721:1,042,171...1,050,661 		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_004936721:495,132...508,341
Ensembl chrNW_004936721:495,093...508,347 		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_004936721:1,137,998...1,153,243
Ensembl chrNW_004936721:1,137,916...1,156,151 		JBrowse link
G Pqbp1 polyglutamine binding protein 1 ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:28492532 NCBI chrNW_004936721:825,171...830,010
Ensembl chrNW_004936721:825,075...832,755 		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_004936721:972,095...974,738
Ensembl chrNW_004936721:971,744...975,580 		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_004936721:1,050,755...1,060,603
Ensembl chrNW_004936721:1,050,801...1,060,574 		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_004936502:12,923,890...12,952,179
Ensembl chrNW_004936502:12,925,910...12,955,470 		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_004936721:547,751...551,273 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_004936502:12,872,938...12,891,270
Ensembl chrNW_004936502:12,872,824...12,891,506 		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_004936502:12,656,187...12,701,689
Ensembl chrNW_004936502:12,656,043...12,701,742 		JBrowse link
G Shroom4 shroom family member 4 ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:28492532 NCBI chrNW_004936721:2,068,731...2,166,537 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_004936721:830,067...838,783
Ensembl chrNW_004936721:830,042...838,866 		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_004936721:419,286...441,224
Ensembl chrNW_004936721:419,268...441,350 		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_004936502:12,450,702...12,587,196
Ensembl chrNW_004936502:12,452,720...12,587,192 		JBrowse link
G Suv39h1 SUV39H1 histone lysine methyltransferase ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:28492532 NCBI chrNW_004936721:646,778...661,144
Ensembl chrNW_004936721:646,772...661,091 		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_004936502:13,334,998...13,387,082
Ensembl chrNW_004936502:13,334,995...13,387,172 		JBrowse link
G Syp synaptophysin ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:28492532 NCBI chrNW_004936721:1,062,206...1,075,935
Ensembl chrNW_004936721:1,062,217...1,075,988 		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_004936721:524,398...536,918
Ensembl chrNW_004936721:524,247...537,363 		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_004936721:933,572...945,717
Ensembl chrNW_004936721:933,404...945,725 		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_004936721:817,738...824,074
Ensembl chrNW_004936721:818,608...826,042 		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_004936502:13,345,936...13,350,170
Ensembl chrNW_004936502:13,345,832...13,350,248 		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_004936502:12,961,236...12,984,235
Ensembl chrNW_004936502:12,969,145...12,984,238 		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_004936502:13,003,214...13,020,772
Ensembl chrNW_004936502:13,003,261...13,020,388 		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_004936721:1,396,103...1,399,718
Ensembl chrNW_004936721:1,396,103...1,399,745 		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_004936502:13,419,520...13,427,777
Ensembl chrNW_004936502:13,418,403...13,427,767 		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:8069912 More... NCBI chrNW_004936721:634,685...641,248
Ensembl chrNW_004936721:634,706...641,082 		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_004936721:566,529...594,203
Ensembl chrNW_004936721:566,520...574,934 		JBrowse link
G Wdr45 WD repeat domain 45 ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:28492532 NCBI chrNW_004936721:975,113...981,149
Ensembl chrNW_004936721:975,104...981,731 		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_004936502:13,127,503...13,158,443
Ensembl chrNW_004936502:13,127,563...13,158,962