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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.


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 4930451I11Rik RIKEN cDNA 4930451I11 gene ISO ClinVar Annotator: match by term: Neutropenia ClinVar NCBI chr 7:126,429,640...126,430,712
Ensembl chr 7:126,429,640...126,430,811 		JBrowse link
G Abcb1a ATP-binding cassette, sub-family B (MDR/TAP), member 1A ISO CTD Direct Evidence: marker/mechanism CTD PMID:16950614 PMID:25007187 NCBI chr 5:8,617,091...8,798,575
Ensembl chr 5:8,710,077...8,798,575 		JBrowse link
G Ankrd11 ankyrin repeat domain 11 ISO ClinVar Annotator: match by term: Neutropenia ClinVar NCBI chr 8:123,610,060...123,769,023
Ensembl chr 8:123,610,561...123,769,016 		JBrowse link
G Ap3b1 adaptor-related protein complex 3, beta 1 subunit ISO RGD PMID:12125811 RGD:1578409 NCBI chr13:94,492,332...94,702,838
Ensembl chr13:94,495,468...94,702,825 		JBrowse link
G Atp6ap1 ATPase, H+ transporting, lysosomal accessory protein 1 ISO ClinVar Annotator: match by term: Neutropenia ClinVar PMID:28492532 NCBI chr  X:73,340,703...73,348,327
Ensembl chr  X:73,340,703...73,348,327 		JBrowse link
G C5ar1 complement component 5a receptor 1 ISO RGD PMID:10516626 RGD:5130180 NCBI chr 7:15,980,668...15,993,465
Ensembl chr 7:15,980,668...15,993,465 		JBrowse link
G Ccnq cyclin Q ISO ClinVar Annotator: match by term: Neutropenia ClinVar PMID:28492532 NCBI chr11:78,641,332...78,642,555
Ensembl chr11:78,641,332...78,642,555 		JBrowse link
G Cfb complement factor B ISO ClinVar Annotator: match by term: Neutropenia ClinVar NCBI chr17:35,075,350...35,081,492
Ensembl chr17:35,075,350...35,081,494 		JBrowse link
G Chd1l chromodomain helicase DNA binding protein 1-like ISO ClinVar Annotator: match by term: Neutropenia ClinVar NCBI chr 3:97,468,056...97,517,538
Ensembl chr 3:97,468,058...97,517,519 		JBrowse link
G Clpb ClpB caseinolytic peptidase B ISO ClinVar Annotator: match by term: Neutropenia ClinVar PMID:25597510 PMID:25597511 PMID:25741868 PMID:27290639 PMID:27891836 More... NCBI chr 7:101,312,958...101,444,667
Ensembl chr 7:101,312,840...101,444,713 		JBrowse link
G Csf2 colony stimulating factor 2 (granulocyte-macrophage) treatment ISO CTD Direct Evidence: therapeutic CTD
RGD		 PMID:7875148 PMID:11264156 PMID:10832225 RGD:10449510 NCBI chr11:54,138,096...54,140,725
Ensembl chr11:54,138,097...54,140,493 		JBrowse link
G Csf3 colony stimulating factor 3 (granulocyte) ISO CTD Direct Evidence: marker/mechanism|therapeutic CTD
RGD		 PMID:7524159 PMID:7529132 PMID:7543699 PMID:7688884 PMID:9740541 More... RGD:11039039 NCBI chr11:98,591,287...98,594,457
Ensembl chr11:98,592,089...98,594,455 		JBrowse link
G Dpyd dihydropyrimidine dehydrogenase ISO CTD Direct Evidence: marker/mechanism CTD PMID:12562666 NCBI chr 3:118,355,758...119,226,573
Ensembl chr 3:118,355,778...119,226,573 		JBrowse link
G Elane elastase, neutrophil expressed ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Neutropenia		 CTD
ClinVar		 PMID:9536098 PMID:10581030 PMID:17436313 PMID:17576681 PMID:20049848 More... NCBI chr10:79,722,146...79,724,050
Ensembl chr10:79,722,081...79,724,049 		JBrowse link
G Ephx1 epoxide hydrolase 1, microsomal ISO ClinVar Annotator: match by term: Neutropenia ClinVar NCBI chr 1:180,817,121...180,845,134
Ensembl chr 1:180,803,775...180,848,469 		JBrowse link
G Fcgr2b Fc receptor, IgG, low affinity IIb ISO CTD Direct Evidence: marker/mechanism CTD PMID:10848805 NCBI chr 1:170,786,186...170,804,141
Ensembl chr 1:170,786,186...170,804,116 		JBrowse link
G Fcgr3 Fc receptor, IgG, low affinity III ISO DNA:SNP:cds:p.R131H (human) RGD PMID:11295474 RGD:11040988 NCBI chr 1:170,878,738...170,893,477
Ensembl chr 1:170,878,743...170,892,504 		JBrowse link
G Gfi1 growth factor independent 1 transcription repressor IMP
IAGP		 DNA:mutation:exon: RGD PMID:11810106 PMID:22684987 RGD:11040449, RGD:11040456 NCBI chr 5:107,864,521...107,873,671
Ensembl chr 5:107,864,523...107,873,902 		JBrowse link
G Gstt1 glutathione S-transferase, theta 1 susceptibility ISO RGD PMID:19555437 RGD:10450844 NCBI chr10:75,619,647...75,634,418
Ensembl chr10:75,619,647...75,634,418 		JBrowse link
G Hax1 HCLS1 associated X-1 ISO ClinVar Annotator: match by term: Neutropenia ClinVar PMID:28492532 PMID:32581362 NCBI chr 3:89,902,753...89,906,023
Ensembl chr 3:89,902,753...89,906,087 		JBrowse link
G Hc hemolytic complement ISO RGD PMID:10516626 PMID:10188960 RGD:5130180, RGD:1600665 NCBI chr 2:34,873,341...34,958,518
Ensembl chr 2:34,873,343...34,951,450 		JBrowse link
G Hoxd13 homeobox D13 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27725143 NCBI chr 2:74,498,569...74,501,947
Ensembl chr 2:74,498,654...74,501,943 		JBrowse link
G Il1b interleukin 1 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:1884014 NCBI chr 2:129,206,490...129,213,059
Ensembl chr 2:129,206,490...129,213,059 		JBrowse link
G Jagn1 jagunal homolog 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25129144 PMID:25129145 NCBI chr 6:113,419,478...113,425,190
Ensembl chr 6:113,419,530...113,425,190 		JBrowse link
G Kif11 kinesin family member 11 ISO ClinVar Annotator: match by term: Neutropenia ClinVar PMID:25741868 PMID:28492532 NCBI chr19:37,364,830...37,410,311
Ensembl chr19:37,364,851...37,410,307 		JBrowse link
G Lims2 LIM and senescent cell antigen like domains 2 ISO ClinVar Annotator: match by term: Neutropenia ClinVar NCBI chr18:32,055,346...32,091,673
Ensembl chr18:32,055,343...32,091,672 		JBrowse link
G Mki67 antigen identified by monoclonal antibody Ki 67 ISO protein:increased expression:blood, T cell RGD PMID:22092365 RGD:6483522 NCBI chr 7:135,291,513...135,318,286
Ensembl chr 7:135,291,513...135,318,090 		JBrowse link
G Mthfr methylenetetrahydrofolate reductase ISO CTD Direct Evidence: marker/mechanism CTD PMID:19391036 NCBI chr 4:148,123,534...148,144,019
Ensembl chr 4:148,123,534...148,144,008 		JBrowse link
G Muc16 mucin 16 ISO ClinVar Annotator: match by term: Neutropenia ClinVar NCBI chr 9:18,406,741...18,586,117
Ensembl chr 9:18,406,751...18,585,826 		JBrowse link
G Nup98 nucleoporin 98 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27725143 NCBI chr 7:101,768,607...101,859,359
Ensembl chr 7:101,768,605...101,859,383 		JBrowse link
G Pkp3 plakophilin 3 ISO ClinVar Annotator: match by term: Neutropenia ClinVar NCBI chr 7:140,658,202...140,670,424
Ensembl chr 7:140,658,131...140,670,423 		JBrowse link
G Polr3c polymerase (RNA) III (DNA directed) polypeptide C ISO ClinVar Annotator: match by term: Neutropenia ClinVar NCBI chr 3:96,618,836...96,634,803
Ensembl chr 3:96,618,806...96,634,944 		JBrowse link
G Ptafr platelet-activating factor receptor treatment ISO RGD PMID:3011900 RGD:10043179 NCBI chr 4:132,291,378...132,309,994
Ensembl chr 4:132,291,378...132,309,994 		JBrowse link
G Rnf128 ring finger protein 128 ISO ClinVar Annotator: match by term: Neutropenia ClinVar PMID:25741868 NCBI chr  X:138,464,089...138,573,894
Ensembl chr  X:138,464,065...138,573,894 		JBrowse link
G Rps14 ribosomal protein S14 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27725143 NCBI chr18:60,907,668...60,911,618
Ensembl chr18:60,880,170...60,911,618 		JBrowse link
G Slc34a1 solute carrier family 34 (sodium phosphate), member 1 ISO ClinVar Annotator: match by term: Neutropenia ClinVar PMID:28492532 NCBI chr13:55,547,435...55,562,508
Ensembl chr13:55,546,000...55,563,405 		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 chr11:106,153,997...106,163,810
Ensembl chr11:106,154,005...106,163,798 		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 chr10:128,106,367...128,128,722
Ensembl chr10:128,106,428...128,128,718 		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 chr11:100,777,632...100,830,447
Ensembl chr11:100,775,924...100,830,366 		JBrowse link
G Tle2 transducin-like enhancer of split 2 ISO ClinVar Annotator: match by term: Neutropenia ClinVar NCBI chr10:81,410,573...81,435,018
Ensembl chr10:81,410,395...81,426,679 		JBrowse link
G Tmem63a transmembrane protein 63a ISO ClinVar Annotator: match by term: Neutropenia ClinVar NCBI chr 1:180,769,899...180,802,671
Ensembl chr 1:180,769,909...180,802,677 		JBrowse link
G Tnf tumor necrosis factor ISO RGD PMID:15986200 RGD:1580321 NCBI chr17:35,418,343...35,420,983
Ensembl chr17:35,418,357...35,420,983 		JBrowse link
G Tnfrsf10b tumor necrosis factor receptor superfamily, member 10b ISO CTD Direct Evidence: marker/mechanism CTD PMID:19652058 NCBI chr14:70,004,921...70,021,860
Ensembl chr14:70,004,921...70,021,860 		JBrowse link
G Tpmt thiopurine methyltransferase ISO CTD Direct Evidence: marker/mechanism CTD PMID:18662289 NCBI chr13:47,175,463...47,196,833
Ensembl chr13:47,175,958...47,198,213 		JBrowse link
G Ugt1a1 UDP glucuronosyltransferase 1 family, polypeptide A1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17549067 NCBI chr 1:88,139,681...88,147,724
Ensembl chr 1:88,139,681...88,146,719 		JBrowse link
G Usp3 ubiquitin specific peptidase 3 ISO ClinVar Annotator: match by term: Neutropenia ClinVar NCBI chr 9:66,421,573...66,501,996
Ensembl chr 9:66,421,919...66,500,424 		JBrowse link
G Vps16 VSP16 CORVET/HOPS core subunit ISO ClinVar Annotator: match by term: Neutropenia ClinVar NCBI chr 2:130,265,744...130,286,189
Ensembl chr 2:130,266,259...130,286,189 		JBrowse link
G Xdh xanthine dehydrogenase ISO ClinVar Annotator: match by term: Neutropenia ClinVar PMID:25741868 PMID:28492532 PMID:30755392 NCBI chr17:74,190,890...74,257,369
Ensembl chr17:74,190,890...74,257,191 		JBrowse link
G Zc3h3 zinc finger CCCH type containing 3 ISO ClinVar Annotator: match by term: Neutropenia ClinVar NCBI chr15:75,626,279...75,713,772
Ensembl chr15:75,626,279...75,713,764 		JBrowse link
3-methylglutaconic aciduria type 7a term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Clpb ClpB caseinolytic peptidase B ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIA OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:32313153 PMID:34140661 NCBI chr 7:101,312,958...101,444,667
Ensembl chr 7:101,312,840...101,444,713 		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 C subunit 15 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 7:101,530,508...101,551,056
Ensembl chr 7:101,512,922...101,551,056 		JBrowse link
G Arap1 ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 7:100,997,296...101,061,793
Ensembl chr 7:100,997,274...101,061,793 		JBrowse link
G Arhgef17 Rho guanine nucleotide exchange factor (GEF) 17 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 7:100,518,953...100,581,368
Ensembl chr 7:100,518,959...100,581,314 		JBrowse link
G Arrb1 arrestin, beta 1 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 7:99,184,356...99,255,979
Ensembl chr 7:99,184,673...99,255,978 		JBrowse link
G Atg16l2 autophagy related 16-like 2 (S. cerevisiae) ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 7:100,935,521...100,951,474
Ensembl chr 7:100,912,241...100,951,458 		JBrowse link
G C2cd3 C2 calcium-dependent domain containing 3 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 7:100,021,440...100,119,366
Ensembl chr 7:100,021,440...100,119,359 		JBrowse link
G Chrdl2 chordin-like 2 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 7:99,655,611...99,683,935
Ensembl chr 7:99,655,379...99,683,935 		JBrowse link
G Clpb ClpB caseinolytic peptidase 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 chr 7:101,312,958...101,444,667
Ensembl chr 7:101,312,840...101,444,713 		JBrowse link
G Coa4 cytochrome c oxidase assembly factor 4 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 7:100,186,307...100,189,579
Ensembl chr 7:100,186,278...100,189,576 		JBrowse link
G Dhcr7 7-dehydrocholesterol reductase ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 7:143,376,827...143,402,147
Ensembl chr 7:143,376,882...143,402,147 		JBrowse link
G Dnajb13 DnaJ heat shock protein family (Hsp40) member B13 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 7:100,152,218...100,182,834
Ensembl chr 7:100,150,923...100,164,167 		JBrowse link
G Fam168a family with sequence similarity 168, member A ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 7:100,355,594...100,490,853
Ensembl chr 7:100,355,842...100,490,863 		JBrowse link
G Fchsd2 FCH and double SH3 domains 2 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 7:100,757,836...100,933,613
Ensembl chr 7:100,742,070...100,933,612 		JBrowse link
G Folr1 folate receptor 1 (adult) ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 7:101,507,551...101,519,974
Ensembl chr 7:101,507,538...101,519,995 		JBrowse link
G Folr2 folate receptor 2 (fetal) ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 7:101,489,195...101,506,397
Ensembl chr 7:101,489,195...101,506,401 		JBrowse link
G Gdpd5 glycerophosphodiester phosphodiesterase domain containing 5 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 7:99,027,976...99,111,082
Ensembl chr 7:99,030,621...99,111,084 		JBrowse link
G Gm7579 predicted gene 7579 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 7:141,765,554...141,766,818
Ensembl chr 7:141,765,596...141,766,327 		JBrowse link
G Il18bp interleukin 18 binding protein ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 7:101,664,281...101,669,699
Ensembl chr 7:101,664,092...101,667,897 		JBrowse link
G Inppl1 inositol polyphosphate phosphatase-like 1 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 7:101,471,839...101,487,419
Ensembl chr 7:101,471,839...101,487,436 		JBrowse link
G Kcne3 potassium voltage-gated channel, Isk-related subfamily, gene 3 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 7:99,825,714...99,834,076
Ensembl chr 7:99,825,709...99,834,076 		JBrowse link
G Klhl35 kelch-like 35 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 7:99,112,328...99,123,229
Ensembl chr 7:99,115,211...99,123,229 		JBrowse link
G Lamtor1 late endosomal/lysosomal adaptor, MAPK and MTOR activator 1 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 7:101,555,044...101,561,110
Ensembl chr 7:101,555,111...101,575,882 		JBrowse link
G Lipt2 lipoyl(octanoyl) transferase 2 (putative) ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 7:99,808,484...99,810,138
Ensembl chr 7:99,808,484...99,810,572 		JBrowse link
G Mir139 microRNA 139 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 7:101,124,583...101,124,650
Ensembl chr 7:101,124,583...101,124,650 		JBrowse link
G Mir326 microRNA 326 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 7:99,201,476...99,201,570
Ensembl chr 7:99,201,476...99,201,570 		JBrowse link
G Mrpl48 mitochondrial ribosomal protein L48 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 7:100,194,986...100,257,508
Ensembl chr 7:100,194,958...100,257,508 		JBrowse link
G Nadsyn1 NAD synthetase 1 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 7:143,349,326...143,376,598
Ensembl chr 7:143,349,321...143,376,586 		JBrowse link
G Neu3 neuraminidase 3 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 7:99,460,646...99,477,579
Ensembl chr 7:99,460,646...99,477,624 		JBrowse link
G Numa1 nuclear mitotic apparatus protein 1 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 7:101,583,169...101,664,166
Ensembl chr 7:101,583,318...101,664,171 		JBrowse link
G Or2at4 olfactory receptor family 2 subfamily AT member 4 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 7:99,384,352...99,385,302
Ensembl chr 7:99,379,480...99,385,606 		JBrowse link
G P2ry2 purinergic receptor P2Y, G-protein coupled 2 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 7:100,645,775...100,661,260
Ensembl chr 7:100,645,775...100,662,073 		JBrowse link
G P2ry6 pyrimidinergic receptor P2Y, G-protein coupled, 6 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 7:100,586,837...100,628,528
Ensembl chr 7:100,586,837...100,623,856 		JBrowse link
G P4ha3 procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), alpha polypeptide III ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 7:99,934,637...99,968,908
Ensembl chr 7:99,934,727...99,968,906 		JBrowse link
G Pde2a phosphodiesterase 2A, cGMP-stimulated ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 7:101,070,905...101,162,026
Ensembl chr 7:101,060,093...101,162,026
Ensembl chr 7:101,060,093...101,162,026 		JBrowse link
G Pgm2l1 phosphoglucomutase 2-like 1 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 7:99,876,471...99,928,079
Ensembl chr 7:99,876,601...99,928,075 		JBrowse link
G Phox2a paired-like homeobox 2a ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 7:101,467,520...101,471,933
Ensembl chr 7:101,467,520...101,471,933 		JBrowse link
G Plekhb1 pleckstrin homology domain containing, family B (evectins) member 1 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 7:100,291,922...100,311,601
Ensembl chr 7:100,292,099...100,311,621 		JBrowse link
G Pold3 polymerase (DNA-directed), delta 3, accessory subunit ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 7:99,731,317...99,770,709
Ensembl chr 7:99,731,318...99,770,772 		JBrowse link
G Ppme1 protein phosphatase methylesterase 1 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 7:99,975,944...100,021,103
Ensembl chr 7:99,975,944...100,021,514 		JBrowse link
G Rab6a RAB6A, member RAS oncogene family ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 7:100,256,778...100,290,475
Ensembl chr 7:100,256,617...100,290,475 		JBrowse link
G Relt RELT tumor necrosis factor receptor ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 7:100,495,054...100,512,690
Ensembl chr 7:100,495,054...100,512,653 		JBrowse link
G Rnf121 ring finger protein 121 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 7:101,668,344...101,721,712
Ensembl chr 7:101,668,344...101,714,676 		JBrowse link
G Rnf169 ring finger protein 169 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 7:99,569,461...99,630,537
Ensembl chr 7:99,569,461...99,629,655 		JBrowse link
G Rps3 ribosomal protein S3 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 7:99,127,103...99,132,916
Ensembl chr 7:99,127,103...99,132,945 		JBrowse link
G Serpinh1 serine (or cysteine) peptidase inhibitor, clade H, member 1 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 7:98,994,583...99,002,321
Ensembl chr 7:98,994,583...99,002,446 		JBrowse link
G Slco2b1 solute carrier organic anion transporter family, member 2b1 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 7:99,307,011...99,360,547
Ensembl chr 7:99,307,011...99,360,547 		JBrowse link
G Snord15a small nucleolar RNA, C/D box 15A ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 7:99,131,992...99,132,139
Ensembl chr 7:99,131,992...99,132,139 		JBrowse link
G Spcs2 signal peptidase complex subunit 2 homolog (S. cerevisiae) ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 7:99,486,775...99,512,576
Ensembl chr 7:99,486,776...99,512,669 		JBrowse link
G Stard10 START domain containing 10 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 7:100,966,293...100,995,833
Ensembl chr 7:100,966,293...100,995,833 		JBrowse link
G Tomt transmembrane O-methyltransferase ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 7:101,549,010...101,555,572
Ensembl chr 7:101,547,577...101,555,566 		JBrowse link
G Tpbgl trophoblast glycoprotein-like ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 7:99,273,274...99,276,310
Ensembl chr 7:99,273,289...99,276,310 		JBrowse link
G Ucp2 uncoupling protein 2 (mitochondrial, proton carrier) ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 7:100,142,565...100,148,832
Ensembl chr 7:100,142,544...100,151,227 		JBrowse link
G Ucp3 uncoupling protein 3 (mitochondrial, proton carrier) ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 7:100,122,198...100,135,639
Ensembl chr 7:100,122,197...100,135,639 		JBrowse link
G Xrra1 X-ray radiation resistance associated 1 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 7:99,508,425...99,567,031
Ensembl chr 7:99,508,323...99,567,029 		JBrowse link
Chemotherapy-Induced Febrile Neutropenia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ace angiotensin I converting enzyme (peptidyl-dipeptidase A) 1 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 chr11:105,858,774...105,880,790
Ensembl chr11:105,858,771...105,880,790 		JBrowse link
G Cyp3a11 cytochrome P450, family 3, subfamily a, polypeptide 11 susceptibility ISO associated with breast neoplasm;DNA:polymorphism:splice junction:6986A>G(human) RGD PMID:19332043 RGD:11353804 NCBI chr 5:145,791,417...145,816,664
Ensembl chr 5:145,791,236...145,816,774 		JBrowse link
G Cyp3a13 cytochrome P450, family 3, subfamily a, polypeptide 13 susceptibility ISO associated with breast neoplasm;DNA:polymorphism:splice junction:6986A>G(human) RGD PMID:19332043 RGD:11353804 NCBI chr 5:137,891,195...137,923,872
Ensembl chr 5:137,891,194...137,919,881 		JBrowse link
G Fcgr4 Fc receptor, IgG, low affinity IV treatment ISO associated with Lymphoma, Large B-Cell, Diffuse;DNA:SNP: :rs396991 (human) RGD PMID:27282998 RGD:11344967 NCBI chr 1:170,846,495...170,857,330
Ensembl chr 1:170,846,489...170,857,330 		JBrowse link
G Gstp1 glutathione S-transferase, pi 1 susceptibility ISO DNA:polymorphism: : rs1695(human) RGD PMID:25008867 RGD:10755412 NCBI chr19:4,085,411...4,087,912
Ensembl chr19:4,085,407...4,087,985 		JBrowse link
G Itpa inosine triphosphatase (nucleoside triphosphate pyrophosphatase) ISO associated with Precursor Cell Lymphoblastic Leukemia-Lymphoma;DNA:SNP: :rs41320251 (human) RGD PMID:18685564 RGD:10766478 NCBI chr 2:130,506,702...130,523,534
Ensembl chr 2:130,509,530...130,523,534 		JBrowse link
G Mbl2 mannose-binding lectin (protein C) 2 susceptibility
disease progression		 ISO associated with leukemia;
associated with Precursor B-Cell Lymphoblastic Leukemia-Lymphoma;DNA:polymorphisms:exon:
associated with Neoplasms;DNA:SNP,haplotyep:promoter:		 RGD PMID:24819208 PMID:24453114 PMID:20930093 RGD:11530041, RGD:11530056, RGD:11530043 NCBI chr19:30,210,306...30,217,087
Ensembl chr19:30,210,342...30,217,087 		JBrowse link
G Mdm2 transformed mouse 3T3 cell double minute 2 susceptibility ISO associated with Breast Neoplasms;DNA:SNP:cds:309T>G(rs2279744)(human) RGD PMID:21706156 RGD:11073725 NCBI chr10:117,524,780...117,546,663
Ensembl chr10:117,524,780...117,546,663 		JBrowse link
G Trp53 transformation related protein 53 susceptibility ISO associated with Breast Neoplasms;DNA:SNP:cds: p.R72P(rs1042522)(human) RGD PMID:21706156 RGD:11073725 NCBI chr11:69,471,174...69,482,699
Ensembl chr11:69,471,185...69,482,699 		JBrowse link
cyclic hematopoiesis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 2310011J03Rik RIKEN cDNA 2310011J03 gene ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr10:80,154,089...80,156,382
Ensembl chr10:80,154,088...80,156,371 		JBrowse link
G Abca7 ATP-binding cassette, sub-family A (ABC1), member 7 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr10:79,832,328...79,851,406
Ensembl chr10:79,832,328...79,851,406 		JBrowse link
G Abhd17a abhydrolase domain containing 17A ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr10:80,419,483...80,426,199
Ensembl chr10:80,419,488...80,426,175 		JBrowse link
G Adamtsl5 ADAMTS-like 5 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr10:80,175,655...80,184,246
Ensembl chr10:80,174,944...80,184,246 		JBrowse link
G Adat3 adenosine deaminase, tRNA-specific 3 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr10:80,438,714...80,443,488
Ensembl chr10:80,441,855...80,451,618
Ensembl chr10:80,441,855...80,451,618 		JBrowse link
G Ap3b1 adaptor-related protein complex 3, beta 1 subunit ISO Neutropenia, cyclic OMIA PMID:47249 PMID:127610 PMID:173440 PMID:336117 PMID:347941 More... NCBI chr13:94,492,332...94,702,838
Ensembl chr13:94,495,468...94,702,825 		JBrowse link
G Ap3d1 adaptor-related protein complex 3, delta 1 subunit ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr10:80,542,790...80,578,137
Ensembl chr10:80,542,790...80,578,098 		JBrowse link
G Apc2 APC regulator of WNT signaling pathway 2 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr10:80,131,790...80,154,091
Ensembl chr10:80,131,811...80,154,097 		JBrowse link
G Arhgap45 Rho GTPase activating protein 45 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr10:79,852,505...79,867,305
Ensembl chr10:79,852,487...79,867,306 		JBrowse link
G Arid3a AT rich interactive domain 3A (BRIGHT-like) ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr10:79,762,877...79,790,852
Ensembl chr10:79,762,877...79,790,852 		JBrowse link
G Atp5f1d ATP synthase F1 subunit delta ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr10:79,974,451...79,981,662
Ensembl chr10:79,974,466...79,981,652 		JBrowse link
G Atp8b3 ATPase, class I, type 8B, member 3 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr10:80,355,418...80,374,987
Ensembl chr10:80,355,418...80,374,958 		JBrowse link
G Btbd2 BTB (POZ) domain containing 2 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr10:80,478,457...80,492,328
Ensembl chr10:80,478,451...80,492,328 		JBrowse link
G Cbarp calcium channel, voltage-dependent, beta subunit associated regulatory protein ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr10:79,966,268...79,976,189
Ensembl chr10:79,966,285...79,976,669 		JBrowse link
G Cfd complement factor D (adipsin) ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr10:79,726,687...79,728,489
Ensembl chr10:79,726,687...79,728,489 		JBrowse link
G Cirbp cold inducible RNA binding protein ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr10:80,001,824...80,008,620
Ensembl chr10:80,001,819...80,008,620 		JBrowse link
G Cnn2 calponin 2 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr10:79,824,434...79,831,234
Ensembl chr10:79,824,418...79,831,896 		JBrowse link
G Csnk1g2 casein kinase 1, gamma 2 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr10:80,458,465...80,476,605
Ensembl chr10:80,458,672...80,476,583 		JBrowse link
G Dazap1 DAZ associated protein 1 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr10:80,097,168...80,124,242
Ensembl chr10:80,097,320...80,124,242 		JBrowse link
G Efna2 ephrin A2 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr10:80,015,316...80,025,844
Ensembl chr10:80,015,316...80,025,844 		JBrowse link
G Elane elastase, neutrophil expressed ISO ClinVar Annotator: match by term: Cyclical neutropenia
DNA:mutations: :		 OMIM
ClinVar
RGD		 PMID:3229910 PMID:9536098 PMID:10581030 PMID:11001877 PMID:11675333 More... RGD:10450519 NCBI chr10:79,722,146...79,724,050
Ensembl chr10:79,722,081...79,724,049 		JBrowse link
G Fam174c family with sequence similarity 174, member C ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr10:80,008,778...80,010,953
Ensembl chr10:80,008,778...80,010,980 		JBrowse link
G Fgf22 fibroblast growth factor 22 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr10:79,590,887...79,593,629
Ensembl chr10:79,590,910...79,594,430 		JBrowse link
G Fstl3 follistatin-like 3 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr10:79,613,108...79,618,464
Ensembl chr10:79,613,106...79,618,464 		JBrowse link
G Gamt guanidinoacetate methyltransferase ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr10:80,093,985...80,096,846
Ensembl chr10:80,093,985...80,096,846 		JBrowse link
G Gpx4 glutathione peroxidase 4 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr10:79,883,000...79,892,273
Ensembl chr10:79,883,000...79,892,273 		JBrowse link
G Grin3b glutamate receptor, ionotropic, NMDA3B ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr10:79,806,227...79,813,024
Ensembl chr10:79,806,549...79,813,024 		JBrowse link
G Hcn2 hyperpolarization-activated, cyclic nucleotide-gated K+ 2 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr10:79,552,468...79,571,942
Ensembl chr10:79,552,468...79,571,942 		JBrowse link
G Izumo4 IZUMO family member 4 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr10:80,537,858...80,541,216
Ensembl chr10:80,538,018...80,541,207 		JBrowse link
G Kiss1r KISS1 receptor ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr10:79,752,786...79,759,922
Ensembl chr10:79,752,805...79,758,107 		JBrowse link
G Klf16 Kruppel-like transcription factor 16 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr10:80,402,955...80,413,130
Ensembl chr10:80,402,958...80,413,155 		JBrowse link
G Mbd3 methyl-CpG binding domain protein 3 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr10:80,228,373...80,235,365
Ensembl chr10:80,228,373...80,235,384 		JBrowse link
G Med16 mediator complex subunit 16 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr10:79,730,543...79,744,757
Ensembl chr10:79,730,542...79,744,757 		JBrowse link
G Mex3d mex3 RNA binding family member D ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr10:80,216,189...80,223,485
Ensembl chr10:80,216,189...80,223,493 		JBrowse link
G Midn midnolin ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr10:79,984,106...79,994,202
Ensembl chr10:79,984,106...79,994,202 		JBrowse link
G Misp mitotic spindle positioning ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr10:79,656,853...79,666,286
Ensembl chr10:79,656,823...79,666,324 		JBrowse link
G Mknk2 MAP kinase-interacting serine/threonine kinase 2 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr10:80,501,152...80,512,264
Ensembl chr10:80,501,161...80,513,946 		JBrowse link
G Mob3a MOB kinase activator 3A ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr10:80,521,087...80,537,845
Ensembl chr10:80,521,087...80,537,811 		JBrowse link
G Ndufs7 NADH:ubiquinone oxidoreductase core subunit S7 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr10:80,084,939...80,092,628
Ensembl chr10:80,084,955...80,092,628 		JBrowse link
G Onecut3 one cut domain, family member 3 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr10:80,330,740...80,353,100
Ensembl chr10:80,330,669...80,353,110 		JBrowse link
G Palm paralemmin ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr10:79,629,406...79,656,749
Ensembl chr10:79,629,406...79,656,730 		JBrowse link
G Pcsk4 proprotein convertase subtilisin/kexin type 4 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr10:80,157,117...80,165,583
Ensembl chr10:80,157,117...80,165,332 		JBrowse link
G Plk5 polo like kinase 5 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr10:80,192,293...80,201,323
Ensembl chr10:80,192,293...80,201,323 		JBrowse link
G Plppr3 phospholipid phosphatase related 3 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr10:79,696,309...79,710,948
Ensembl chr10:79,696,309...79,710,468 		JBrowse link
G Polr2e polymerase (RNA) II (DNA directed) polypeptide E ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr10:79,871,787...79,875,493
Ensembl chr10:79,871,783...79,875,629 		JBrowse link
G Polrmt polymerase (RNA) mitochondrial (DNA directed) ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr10:79,571,951...79,582,436
Ensembl chr10:79,571,957...79,582,415 		JBrowse link
G Prss57 protease, serine 57 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr10:79,617,308...79,630,523
Ensembl chr10:79,617,308...79,626,795 		JBrowse link
G Prtn3 proteinase 3 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr10:79,715,499...79,719,008
Ensembl chr10:79,710,310...79,719,008 		JBrowse link
G Ptbp1 polypyrimidine tract binding protein 1 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr10:79,690,502...79,700,269
Ensembl chr10:79,690,261...79,700,605 		JBrowse link
G Pwwp3a PWWP domain containing 3A, DNA repair factor ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr10:80,062,265...80,082,415
Ensembl chr10:80,062,268...80,079,737 		JBrowse link
G R3hdm4 R3H domain containing 4 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr10:79,745,886...79,752,764
Ensembl chr10:79,745,886...79,757,042 		JBrowse link
G Reep6 receptor accessory protein 6 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr10:80,165,831...80,172,275
Ensembl chr10:80,165,787...80,172,275 		JBrowse link
G Rexo1 REX1, RNA exonuclease 1 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr10:80,376,759...80,400,624
Ensembl chr10:80,376,756...80,397,394 		JBrowse link
G Rnf126 ring finger protein 126 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr10:79,594,349...79,607,282
Ensembl chr10:79,594,349...79,602,786 		JBrowse link
G Rps15 ribosomal protein S15 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr10:80,128,265...80,129,948
Ensembl chr10:80,128,287...80,129,948 		JBrowse link
G Sbno2 strawberry notch 2 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr10:79,892,826...79,941,942
Ensembl chr10:79,892,826...79,941,405 		JBrowse link
G Scamp4 secretory carrier membrane protein 4 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr10:80,438,716...80,451,617
Ensembl chr10:80,438,706...80,451,617 		JBrowse link
G Stk11 serine/threonine kinase 11 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr10:79,951,602...79,966,513
Ensembl chr10:79,951,637...79,966,516 		JBrowse link
G Tcf3 transcription factor 3 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr10:80,245,375...80,269,814
Ensembl chr10:80,245,348...80,269,481 		JBrowse link
G Tmem259 transmembrane protein 259 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr10:79,812,954...79,820,159
Ensembl chr10:79,810,782...79,820,164 		JBrowse link
G Uqcr11 ubiquinol-cytochrome c reductase, complex III subunit XI ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr10:80,238,831...80,242,655
Ensembl chr10:80,238,831...80,242,664 		JBrowse link
G Wdr18 WD repeat domain 18 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr10:79,795,989...79,805,081
Ensembl chr10:79,795,986...79,806,037 		JBrowse link
Drug-induced Neutropenia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcb1a ATP-binding cassette, sub-family B (MDR/TAP), member 1A susceptibility ISO associated with Carcinoma, Non-Small-Cell Lung;DNA:SNP: :2677G>T(human)
Breast Neoplasms;DNA:SNP: :3435 C>T(human)
associated with Precursor Cell Lymphoblastic Leukemia-Lymphoma;DNA:SNPs:rs1045642,rs1128503(human)		 RGD PMID:17534875 PMID:22271208 PMID:25007187 RGD:11080964, RGD:11081001, RGD:11080979 NCBI chr 5:8,617,091...8,798,575
Ensembl chr 5:8,710,077...8,798,575 		JBrowse link
G Abcc2 ATP-binding cassette, sub-family C (CFTR/MRP), member 2 susceptibility
no_association		 ISO associated with neoplasm;DNA:SNP:rs12762549(human) RGD PMID:18294295 PMID:23188068 RGD:11080980, RGD:11080999 NCBI chr19:43,770,747...43,826,771
Ensembl chr19:43,770,631...43,829,179 		JBrowse link
G Csf3 colony stimulating factor 3 (granulocyte) treatment ISO associated with Leukemia, Hairy Cell;
associated with Hepatitis C, Chronic;		 RGD PMID:2461131 PMID:17660602 RGD:11039035, RGD:11039036 NCBI chr11:98,591,287...98,594,457
Ensembl chr11:98,592,089...98,594,455 		JBrowse link
G Cyp2c29 cytochrome P450, family 2, subfamily c, polypeptide 29 susceptibility ISO associated with Ovarian Neoplasms: DNA:polymorphism: : RGD PMID:21702053 RGD:11353800 NCBI chr19:39,275,541...39,319,157
Ensembl chr19:39,257,849...39,319,157 		JBrowse link
G Cyp3a11 cytochrome P450, family 3, subfamily a, polypeptide 11 susceptibility ISO associated with breast neoplasm;DNA:polymorphism:splice junction:6986A>G(human)
associated with Ovarian Neoplasms: DNA:polymorphism: :		 RGD PMID:19332043 PMID:21702053 RGD:11353800 RGD:11353804 NCBI chr 5:145,791,417...145,816,664
Ensembl chr 5:145,791,236...145,816,774 		JBrowse link
G Cyp3a13 cytochrome P450, family 3, subfamily a, polypeptide 13 susceptibility ISO associated with Ovarian Neoplasms: DNA:polymorphism: :
associated with breast neoplasm;DNA:polymorphism:splice junction:6986A>G(human)		 RGD PMID:21702053 PMID:19332043 RGD:11353800, RGD:11353804 NCBI chr 5:137,891,195...137,923,872
Ensembl chr 5:137,891,194...137,919,881 		JBrowse link
G Dpyd dihydropyrimidine dehydrogenase treatment
no_association		 ISO associated with Neoplasms;DNA:splice-site mutation:intron:IVS14+1G>A (human)
associated with Neoplasms;DNA:missense mutations: :multiple
associated with Neoplasms;DNA:missense mutation: :p.M166V (496A>G) (human)
DNA:splice-site mutation, missense mutations: :multiple
associated with Colorectal Neoplasms;DNA:SNPs: :rs1801159 (1896T>C), rs17376848 (human)		 RGD PMID:12209976 PMID:19473056 PMID:19473056 PMID:11156223 PMID:23942539 RGD:11251736, RGD:11098817, RGD:11098817, RGD:11251738, RGD:11251737 NCBI chr 3:118,355,758...119,226,573
Ensembl chr 3:118,355,778...119,226,573 		JBrowse link
G Ercc1 excision repair cross-complementing rodent repair deficiency, complementation group 1 treatment ISO associated with Colorectal Neoplasms;DNA:SNP RGD PMID:23543295 RGD:11340199 NCBI chr 7:19,079,016...19,090,449
Ensembl chr 7:19,078,703...19,090,449 		JBrowse link
G Ercc2 excision repair cross-complementing rodent repair deficiency, complementation group 2 treatment ISO associated with Urinary Bladder Neoplasms;DNA:SNP: :p.K751Q (rs13181) (human) RGD PMID:21047201 RGD:11098572 NCBI chr 7:19,115,942...19,129,619
Ensembl chr 7:19,115,935...19,129,619 		JBrowse link
G Ercc6 excision repair cross-complementing rodent repair deficiency, complementation group 6 treatment ISO associated with lung non-small cell carcinoma;DNA:SNP:intron: (rs4253212) (human) RGD PMID:28924235 RGD:153323316 NCBI chr14:32,235,248...32,302,947
Ensembl chr14:32,235,478...32,302,947 		JBrowse link
G Fcgr4 Fc receptor, IgG, low affinity IV ISO associated with Lymphoma, Large B-Cell, Diffuse;DNA:polymorphism: :p.V158F (human)
associated with Lymphoma, B-Cell;DNA:polymorphism: :p.V158F (human)
associated with Non-Hodgkin lymphoma;DNA:polymorphism: :p.V158F (human)		 RGD PMID:21883784 PMID:20730791 PMID:19933905 RGD:11344964, RGD:11352256, RGD:11344973 NCBI chr 1:170,846,495...170,857,330
Ensembl chr 1:170,846,489...170,857,330 		JBrowse link
G Gstp1 glutathione S-transferase, pi 1 susceptibility ISO DNA:SNP:cds:p.I105V (rs1695) (human) RGD PMID:23812950 RGD:10755330 NCBI chr19:4,085,411...4,087,912
Ensembl chr19:4,085,407...4,087,985 		JBrowse link
G Gstt1 glutathione S-transferase, theta 1 susceptibility ISO associated with breast cancer RGD PMID:23812950 RGD:10755330 NCBI chr10:75,619,647...75,634,418
Ensembl chr10:75,619,647...75,634,418 		JBrowse link
G H2-Ab1 histocompatibility 2, class II antigen A, beta 1 ISO RGD PMID:27400856 RGD:14928329 NCBI chr17:34,482,201...34,488,392
Ensembl chr17:34,476,663...34,488,393 		JBrowse link
G Il1a interleukin 1 alpha treatment ISO associated with Carcinoma, Non-Small-Cell Lung RGD PMID:7666093 RGD:11051963 NCBI chr 2:129,141,530...129,151,892
Ensembl chr 2:129,141,530...129,151,892 		JBrowse link
G Mdm2 transformed mouse 3T3 cell double minute 2 susceptibility ISO associated with Small Cell Lung Carcinoma;DNA:SNP::rs2279744(human) RGD PMID:24732641 RGD:11073715 NCBI chr10:117,524,780...117,546,663
Ensembl chr10:117,524,780...117,546,663 		JBrowse link
G Pold1 polymerase (DNA directed), delta 1, catalytic subunit treatment ISO associated with lung non-small cell carcinoma; DNA:SNPs:exon, introns: (rs1726801, rs1673041, rs3219341) (human) RGD PMID:28924235 RGD:153323316 NCBI chr 7:44,182,168...44,198,239
Ensembl chr 7:44,182,170...44,198,273 		JBrowse link
G Slco1b2 solute carrier organic anion transporter family, member 1b2 susceptibility
no_association		 ISO associated with neoplasm;DNA:SNP:rs11045585(human)
associated with neoplasm;DNA:SNP: rs11045585(human)		 RGD PMID:18294295 PMID:23188068 RGD:11080980, RGD:11080999 NCBI chr 6:141,575,178...141,632,372
Ensembl chr 6:141,575,244...141,632,372 		JBrowse link
G Sod2 superoxide dismutase 2, mitochondrial susceptibility ISO associated with female breast cancer;DNA:missense mutation:cds:p.V16A (rs4880) (human) RGD PMID:20309628 RGD:11035278 NCBI chr17:13,226,726...13,237,006
Ensembl chr17:13,225,733...13,258,950 		JBrowse link
G Trp53 transformation related protein 53 susceptibility ISO associated with Small Cell Lung Carcinoma;DNA:SNP:: rs1042522(human) RGD PMID:24732641 RGD:11073715 NCBI chr11:69,471,174...69,482,699
Ensembl chr11:69,471,185...69,482,699 		JBrowse link
G Ugt1a1 UDP glucuronosyltransferase 1 family, polypeptide A1 susceptibility
treatment		 ISO associated with neoplasms;DNA:polymorphism, repeat:promoter:-3156G>A, TA (human)
associated with Carcinoma, Non-Small-Cell Lung; DNA:repeat:promoter:(TA)
associated with Esophageal Neoplasms,Stomach Neoplasm;DNA:repeat:promoter:(TA)
associated with Adenocarcinoma, Colorectal;DNA:repeat:promoter:(TA) (rs8175347)
associated with Genital Neoplasms, Female;DNA:polymorphisms: :		 RGD PMID:15007088 PMID:16636344 PMID:23783485 PMID:20177420 PMID:24932285 RGD:10768826, RGD:10769339, RGD:10769336, RGD:10769334, RGD:10768867 NCBI chr 1:88,139,681...88,147,724
Ensembl chr 1:88,139,681...88,146,719 		JBrowse link
Febrile Neutropenia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccl2 chemokine (C-C motif) ligand 2 ISO associated with Hematologic Diseases;protein:increased expression:plasma (human) RGD PMID:23369970 RGD:11528559 NCBI chr11:81,926,403...81,928,278
Ensembl chr11:81,926,397...81,928,279 		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 chr 5:38,684,149...38,720,265
Ensembl chr 5:38,684,156...38,720,564 		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 transcription repressor ISO ClinVar Annotator: match by term: Nonimmune chronic idiopathic neutropenia of adults OMIM
ClinVar		 PMID:11807637 PMID:12778173 PMID:25741868 PMID:28492532 NCBI chr 5:107,864,521...107,873,671
Ensembl chr 5:107,864,523...107,873,902 		JBrowse link
G Tert telomerase reverse transcriptase ISO RGD PMID:22133767 RGD:11038657 NCBI chr13:73,775,030...73,797,962
Ensembl chr13:73,775,030...73,797,962 		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 1 ISO ClinVar Annotator: match by term: Poikiloderma with neutropenia OMIM
ClinVar		 PMID:11737690 PMID:16199547 PMID:18925663 PMID:20004881 PMID:20503306 More... NCBI chr 8:96,058,006...96,074,141
Ensembl chr 8:96,058,912...96,074,135 		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 (granulocyte) IMP RGD PMID:9639496 RGD:10450484 NCBI chr 4:125,917,241...125,938,768
Ensembl chr 4:125,918,343...125,938,233 		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 (granulocyte) disease_progression ISO ClinVar Annotator: match by term: Severe congenital neutropenia ClinVar
RGD		 PMID:24753537 PMID:26324699 PMID:28492532 PMID:32581362 PMID:16985178 More... RGD:10450485, RGD:10450533 NCBI chr 4:125,917,241...125,938,768
Ensembl chr 4:125,918,343...125,938,233 		JBrowse link
G Elane elastase, neutrophil expressed ISO mRNA:decreased expression:myeloid CD33+ cell:
DNA:mutations: :
DNA:mutation:intron:c.597+1G>A (human)		 RGD PMID:10581030 PMID:19620402 PMID:21425445 PMID:24616599 RGD:1598891, RGD:10450525, RGD:10450519, RGD:10450514 NCBI chr10:79,722,146...79,724,050
Ensembl chr10:79,722,081...79,724,049 		JBrowse link
G Fcho1 FCH domain only 1 ISO ClinVar Annotator: match by term: Severe congenital neutropenia ClinVar PMID:30822429 PMID:32098969 NCBI chr 8:72,161,031...72,181,980
Ensembl chr 8:72,161,031...72,178,360 		JBrowse link
G G6pc3 glucose 6 phosphatase, catalytic, 3 ISO ClinVar Annotator: match by term: Severe congenital neutropenia ClinVar NCBI chr11:102,080,525...102,084,907
Ensembl chr11:102,080,446...102,084,907 		JBrowse link
G Gfi1 growth factor independent 1 transcription repressor IAGP OMIM:202700 | OMIM:300299 | OMIM:610738 | OMIM:612541 | OMIM:613107 | OMIM:615285 | OMIM:616022 MouseDO NCBI chr 5:107,864,521...107,873,671
Ensembl chr 5:107,864,523...107,873,902 		JBrowse link
G Hax1 HCLS1 associated X-1 ISO ClinVar Annotator: match by term: Severe congenital neutropenia ClinVar PMID:16199547 PMID:17187068 PMID:19036076 PMID:19499579 PMID:22624626 More... NCBI chr 3:89,902,753...89,906,023
Ensembl chr 3:89,902,753...89,906,087 		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 chr 6:113,419,478...113,425,190
Ensembl chr 6:113,419,530...113,425,190 		JBrowse link
G Tcirg1 T cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 protein A3 ISO ClinVar Annotator: match by term: Congenital neutropenia ClinVar PMID:24753205 NCBI chr19:3,946,050...3,957,717
Ensembl chr19:3,946,050...3,957,133 		JBrowse link
severe congenital neutropenia 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Elane elastase, neutrophil expressed ISO ClinVar Annotator: match by term: Neutropenia, severe congenital, 1, autosomal dominant OMIM
ClinVar		 PMID:3229910 PMID:9536098 PMID:10581030 PMID:11001877 PMID:11675333 More... NCBI chr10:79,722,146...79,724,050
Ensembl chr10:79,722,081...79,724,049 		JBrowse link
G Tcirg1 T cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 protein A3 ISO ClinVar Annotator: match by term: Neutropenia, severe congenital, 1, autosomal dominant ClinVar PMID:24753205 NCBI chr19:3,946,050...3,957,717
Ensembl chr19:3,946,050...3,957,133 		JBrowse link
G Vps13b vacuolar protein sorting 13B ISO ClinVar Annotator: match by term: Neutropenia, severe congenital, 1, autosomal dominant ClinVar PMID:16648375 PMID:25741868 PMID:28492532 NCBI chr15:35,371,264...35,931,375
Ensembl chr15:35,371,306...35,931,375 		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 chr 5:108,055,908...108,134,943
Ensembl chr 5:108,055,919...108,134,951 		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 chr 5:107,892,661...108,022,973
Ensembl chr 5:107,892,661...108,022,973 		JBrowse link
G Gfi1 growth factor independent 1 transcription 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 chr 5:107,864,521...107,873,671
Ensembl chr 5:107,864,523...107,873,902 		JBrowse link
G Rpl5 ribosomal protein L5 ISO ClinVar Annotator: match by term: Neutropenia, severe congenital, 2, autosomal dominant ClinVar PMID:28492532 NCBI chr 5:108,048,388...108,056,871
Ensembl chr 5:108,048,368...108,056,871 		JBrowse link
G Snord21 small nucleolar RNA, C/D box 21 ISO ClinVar Annotator: match by term: Neutropenia, severe congenital, 2, autosomal dominant ClinVar PMID:28492532 NCBI chr 5:108,052,421...108,052,514
Ensembl chr 5:108,052,421...108,052,514 		JBrowse link
severe congenital neutropenia 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 4933434E20Rik RIKEN cDNA 4933434E20 gene ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:17187068 PMID:28492532 NCBI chr 3:89,958,941...89,969,754
Ensembl chr 3:89,958,943...89,970,648
Ensembl chr 3:89,958,943...89,970,648 		JBrowse link
G Adam15 a disintegrin and metallopeptidase domain 15 (metargidin) ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 3:89,246,947...89,257,589
Ensembl chr 3:89,245,849...89,257,303 		JBrowse link
G Adamtsl4 ADAMTS-like 4 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 3:95,583,511...95,595,232
Ensembl chr 3:95,583,511...95,595,228 		JBrowse link
G Adar adenosine deaminase, RNA-specific ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:17187068 PMID:28492532 NCBI chr 3:89,622,321...89,660,756
Ensembl chr 3:89,622,329...89,660,753 		JBrowse link
G Anp32e acidic (leucine-rich) nuclear phosphoprotein 32 family, member E ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 3:95,836,557...95,854,699
Ensembl chr 3:95,836,558...95,854,702 		JBrowse link
G Anxa9 annexin A9 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 3:95,203,404...95,222,491
Ensembl chr 3:95,203,407...95,214,487 		JBrowse link
G Aph1a aph1 homolog A, gamma secretase subunit ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 3:95,801,233...95,805,904
Ensembl chr 3:95,801,281...95,805,600 		JBrowse link
G Aqp10-ps aquaporin 10, pseudogene ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:17187068 PMID:28492532 NCBI chr 3:89,870,751...89,877,041
Ensembl chr 3:89,872,016...89,875,965 		JBrowse link
G Arhgef2 rho/rac guanine nucleotide exchange factor (GEF) 2 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 3:88,500,427...88,556,839
Ensembl chr 3:88,513,273...88,555,359 		JBrowse link
G Arnt aryl hydrocarbon receptor nuclear translocator ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 3:95,341,674...95,404,551
Ensembl chr 3:95,341,699...95,404,551 		JBrowse link
G Ash1l ASH1 like histone lysine methyltransferase ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 3:88,857,721...88,986,682
Ensembl chr 3:88,857,929...88,986,682 		JBrowse link
G Atp8b2 ATPase, class I, type 8B, member 2 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:17187068 PMID:28492532 NCBI chr 3:89,846,795...89,870,645
Ensembl chr 3:89,846,788...89,870,815 		JBrowse link
G BC028528 cDNA sequence BC028528 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 3:95,789,665...95,800,186
Ensembl chr 3:95,791,266...95,799,317 		JBrowse link
G Bcan brevican ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 3:87,894,839...87,908,458
Ensembl chr 3:87,894,838...87,907,537 		JBrowse link
G Bglap bone gamma carboxyglutamate protein ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 3:88,290,802...88,291,773
Ensembl chr 3:88,290,808...88,291,771 		JBrowse link
G Bnipl BCL2/adenovirus E1B 19kD interacting protein like ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 3:95,148,587...95,158,504
Ensembl chr 3:95,148,582...95,158,504 		JBrowse link
G C2cd4d C2 calcium-dependent domain containing 4D ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 3:94,269,720...94,271,874
Ensembl chr 3:94,269,745...94,271,873 		JBrowse link
G Car14 carbonic anhydrase 14 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 3:95,805,080...95,812,443
Ensembl chr 3:95,805,080...95,812,003 		JBrowse link
G Cct3 chaperonin containing Tcp1, subunit 3 (gamma) ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 3:88,204,442...88,229,073
Ensembl chr 3:88,204,423...88,229,074 		JBrowse link
G Cdc42se1 CDC42 small effector 1 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 3:95,135,735...95,143,735
Ensembl chr 3:95,136,043...95,143,720 		JBrowse link
G Celf3 CUGBP, Elav-like family member 3 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 3:94,385,581...94,405,822
Ensembl chr 3:94,385,602...94,399,505 		JBrowse link
G Cers2 ceramide synthase 2 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 3:95,222,077...95,230,910
Ensembl chr 3:95,222,102...95,230,910 		JBrowse link
G Cfap141 cilia and flagella associated protein 141 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:17187068 PMID:28492532 NCBI chr 3:89,970,115...89,975,654
Ensembl chr 3:89,970,103...89,973,182 		JBrowse link
G Cgn cingulin ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 3:94,667,376...94,695,036
Ensembl chr 3:94,667,376...94,693,826 		JBrowse link
G Chrnb2 cholinergic receptor, nicotinic, beta polypeptide 2 (neuronal) ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:17187068 PMID:28492532 NCBI chr 3:89,660,755...89,671,939
Ensembl chr 3:89,653,502...89,671,939 		JBrowse link
G Chtop chromatin target of PRMT1 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 3:90,405,846...90,417,400
Ensembl chr 3:90,406,263...90,416,805 		JBrowse link
G Ciart circadian associated repressor of transcription ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 3:95,785,812...95,790,012
Ensembl chr 3:95,785,815...95,789,563 		JBrowse link
G Cks1b CDC28 protein kinase 1b ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 3:89,322,779...89,325,598
Ensembl chr 3:89,322,779...89,325,690 		JBrowse link
G Clk2 CDC-like kinase 2 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 3:89,072,102...89,084,394
Ensembl chr 3:89,072,102...89,084,228 		JBrowse link
G Crabp2 cellular retinoic acid binding protein II ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 3:87,856,000...87,860,679
Ensembl chr 3:87,855,973...87,860,683 		JBrowse link
G Crct1 cysteine-rich C-terminal 1 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 3:92,921,512...92,922,993
Ensembl chr 3:92,921,512...92,922,994 		JBrowse link
G Creb3l4 cAMP responsive element binding protein 3-like 4 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 3:90,144,805...90,161,387
Ensembl chr 3:90,144,807...90,150,819 		JBrowse link
G Crnn cornulin ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 3:93,052,096...93,057,125
Ensembl chr 3:93,052,094...93,057,126 		JBrowse link
G Crtc2 CREB regulated transcription coactivator 2 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 3:90,161,475...90,171,432
Ensembl chr 3:90,161,470...90,171,432 		JBrowse link
G Ctsk cathepsin K ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 3:95,406,521...95,416,698
Ensembl chr 3:95,406,567...95,416,673 		JBrowse link
G Ctss cathepsin S ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 3:95,434,097...95,463,716
Ensembl chr 3:95,434,097...95,463,714 		JBrowse link
G Dap3 death associated protein 3 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 3:88,828,110...88,858,504
Ensembl chr 3:88,828,110...88,858,488 		JBrowse link
G Dcst1 DC-STAMP domain containing 1 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 3:89,257,526...89,272,560
Ensembl chr 3:89,257,526...89,272,560 		JBrowse link
G Dcst2 DC-STAMP domain containing 2 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 3:89,257,724...89,284,950
Ensembl chr 3:89,269,282...89,284,856 		JBrowse link
G Dennd4b DENN domain containing 4B ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 3:90,172,281...90,187,972
Ensembl chr 3:90,172,492...90,187,976 		JBrowse link
G Dpm3 dolichyl-phosphate mannosyltransferase polypeptide 3 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 3:89,166,567...89,174,386
Ensembl chr 3:89,166,665...89,174,386 		JBrowse link
G Ecm1 extracellular matrix protein 1 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 3:95,641,459...95,646,880
Ensembl chr 3:95,641,459...95,646,881 		JBrowse link
G Efna1 ephrin A1 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 3:89,179,037...89,188,258
Ensembl chr 3:89,179,040...89,188,449 		JBrowse link
G Efna3 ephrin A3 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 3:89,221,200...89,231,359
Ensembl chr 3:89,221,206...89,230,272 		JBrowse link
G Efna4 ephrin A4 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 3:89,240,700...89,245,335
Ensembl chr 3:89,240,697...89,245,335 		JBrowse link
G Ensa endosulfine alpha ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 3:95,532,291...95,539,428
Ensembl chr 3:95,532,304...95,539,413 		JBrowse link
G Entrep3 endosomal transmembrane epsin interactor 3 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 3:89,089,996...89,096,598
Ensembl chr 3:89,090,450...89,096,602 		JBrowse link
G Fdps farnesyl diphosphate synthetase ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 3:89,000,895...89,009,274
Ensembl chr 3:89,000,895...89,009,266 		JBrowse link
G Flad1 flavin adenine dinucleotide synthetase 1 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 3:89,309,980...89,319,188
Ensembl chr 3:89,308,311...89,319,177 		JBrowse link
G Flg filaggrin ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 3:93,180,853...93,200,996
Ensembl chr 3:93,180,830...93,200,993 		JBrowse link
G Flg2 filaggrin family member 2 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 3:93,104,585...93,128,701
Ensembl chr 3:93,104,585...93,128,698 		JBrowse link
G Gabpb2 GA repeat binding protein, beta 2 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 3:95,089,077...95,125,291
Ensembl chr 3:95,089,077...95,125,227 		JBrowse link
G Gatad2b GATA zinc finger domain containing 2B ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 3:90,200,488...90,270,712
Ensembl chr 3:90,200,485...90,270,714 		JBrowse link
G Gba glucosidase, beta, acid ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 3:89,110,235...89,119,944
Ensembl chr 3:89,110,235...89,116,273 		JBrowse link
G Glmp glycosylated lysosomal membrane protein ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 3:88,232,330...88,235,938
Ensembl chr 3:88,232,330...88,238,620 		JBrowse link
G Gm128 predicted gene 128 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 3:95,144,230...95,148,946
Ensembl chr 3:95,144,231...95,148,909 		JBrowse link
G Gm3764 predicted gene 3764 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 3:88,113,980...88,137,266
Ensembl chr 3:88,113,837...88,137,268 		JBrowse link
G Golph3l golgi phosphoprotein 3-like ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 3:95,496,280...95,526,553
Ensembl chr 3:95,496,245...95,526,553 		JBrowse link
G Gon4l gon-4-like (C.elegans) ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 3:88,742,531...88,817,406
Ensembl chr 3:88,742,535...88,817,410 		JBrowse link
G Gpatch4 G patch domain containing 4 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 3:87,950,413...87,963,301
Ensembl chr 3:87,950,415...87,963,300 		JBrowse link
G Hapln2 hyaluronan and proteoglycan link protein 2 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 3:87,927,865...87,934,818
Ensembl chr 3:87,929,057...87,934,890 		JBrowse link
G Hax1 HCLS1 associated X-1 ISO ClinVar Annotator: match by term: Kostmann syndrome OMIM
ClinVar		 PMID:9536098 PMID:10581030 PMID:11519978 PMID:16199547 PMID:17187068 More... NCBI chr 3:89,902,753...89,906,023
Ensembl chr 3:89,902,753...89,906,087 		JBrowse link
G Hcn3 hyperpolarization-activated, cyclic nucleotide-gated K+ 3 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 3:89,054,082...89,067,538
Ensembl chr 3:89,053,381...89,067,503 		JBrowse link
G Hdgf heparin binding growth factor ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 3:87,813,844...87,823,439
Ensembl chr 3:87,813,628...87,823,439 		JBrowse link
G Hormad1 HORMA domain containing 1 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 3:95,466,988...95,495,174
Ensembl chr 3:95,466,988...95,494,982 		JBrowse link
G Hrnr hornerin ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 3:93,227,056...93,240,879
Ensembl chr 3:93,227,056...93,240,877 		JBrowse link
G Il6ra interleukin 6 receptor, alpha ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:17187068 PMID:28492532 NCBI chr 3:89,776,631...89,820,503
Ensembl chr 3:89,771,366...89,820,503 		JBrowse link
G Ilf2 interleukin enhancer binding factor 2 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 3:90,383,421...90,395,686
Ensembl chr 3:90,383,433...90,395,686 		JBrowse link
G Insrr insulin receptor-related receptor ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 3:87,704,215...87,723,408
Ensembl chr 3:87,704,258...87,723,408 		JBrowse link
G Ints3 integrator complex subunit 3 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 3:90,298,687...90,340,943
Ensembl chr 3:90,298,695...90,340,929 		JBrowse link
G Iqgap3 IQ motif containing GTPase activating protein 3 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 3:87,989,309...88,028,355
Ensembl chr 3:87,989,278...88,028,355 		JBrowse link
G Isg20l2 interferon stimulated exonuclease gene 20-like 2 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 3:87,837,602...87,847,994
Ensembl chr 3:87,837,621...87,847,993 		JBrowse link
G Ivl involucrin ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 3:92,478,206...92,481,097
Ensembl chr 3:92,478,209...92,481,042 		JBrowse link
G Jtb jumping translocation breakpoint ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 3:90,138,904...90,143,147
Ensembl chr 3:90,138,904...90,143,145 		JBrowse link
G Kcnn3 potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 3:89,427,471...89,579,801
Ensembl chr 3:89,427,471...89,582,439 		JBrowse link
G Khdc4 KH domain containing 4, pre-mRNA splicing factor ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 3:88,593,087...88,620,240
Ensembl chr 3:88,593,110...88,620,231 		JBrowse link
G Kplce KPRP N-terminal and LCE C-terminal like protein ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 3:92,775,666...92,777,512
Ensembl chr 3:92,775,666...92,777,523 		JBrowse link
G Kprp keratinocyte expressed, proline-rich ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 3:92,730,381...92,734,554
Ensembl chr 3:92,730,381...92,734,554 		JBrowse link
G Krtcap2 keratinocyte associated protein 2 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 3:89,153,201...89,157,036
Ensembl chr 3:89,153,273...89,157,213 		JBrowse link
G Lamtor2 late endosomal/lysosomal adaptor, MAPK and MTOR activator 2 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 3:88,457,126...88,460,258
Ensembl chr 3:88,457,126...88,460,381 		JBrowse link
G Lce1b late cornified envelope 1B ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 3:92,562,957...92,564,233
Ensembl chr 3:92,562,957...92,564,233 		JBrowse link
G Lce1c late cornified envelope 1C ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 3:92,586,554...92,588,225
Ensembl chr 3:92,586,554...92,588,225 		JBrowse link
G Lce1d late cornified envelope 1D ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 3:92,592,806...92,594,517
Ensembl chr 3:92,592,806...92,594,517 		JBrowse link
G Lce1e late cornified envelope 1E ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 3:92,614,707...92,616,381
Ensembl chr 3:92,614,708...92,616,381 		JBrowse link
G Lce1f late cornified envelope 1F ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 3:92,626,003...92,627,657
Ensembl chr 3:92,625,992...92,627,657 		JBrowse link
G Lce1m late cornified envelope 1M ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 3:92,925,114...92,926,368
Ensembl chr 3:92,925,117...92,926,367 		JBrowse link
G Lce3c late cornified envelope 3C ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 3:92,851,793...92,853,038
Ensembl chr 3:92,851,793...92,853,040 		JBrowse link
G Lce3d late cornified envelope 3D ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 3:92,864,695...92,865,881
Ensembl chr 3:92,864,697...92,865,812 		JBrowse link
G Lce3e late cornified envelope 3E ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 3:92,874,368...92,875,588
Ensembl chr 3:92,874,368...92,875,588 		JBrowse link
G Lce6a late cornified envelope 6A ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 3:92,512,128...92,528,975
Ensembl chr 3:92,527,388...92,528,967 		JBrowse link
G Lelp1 late cornified envelope-like proline-rich 1 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 3:92,042,301...92,050,061
Ensembl chr 3:92,042,304...92,050,051 		JBrowse link
G Lenep lens epithelial protein ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 3:89,309,203...89,309,957
Ensembl chr 3:89,308,295...89,310,100 		JBrowse link
G Lingo4 leucine rich repeat and Ig domain containing 4 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 3:94,306,526...94,311,820
Ensembl chr 3:94,305,824...94,311,808 		JBrowse link
G Lmna lamin A ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 3:88,388,455...88,413,842
Ensembl chr 3:88,387,454...88,417,263 		JBrowse link
G Lor loricrin cornified envelope precursor protein ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 3:91,987,578...91,990,447
Ensembl chr 3:91,987,578...91,990,449 		JBrowse link
G Lysmd1 LysM, putative peptidoglycan-binding, domain containing 1 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 3:95,041,399...95,046,836
Ensembl chr 3:95,041,399...95,046,829 		JBrowse link
G Mcl1 myeloid cell leukemia sequence 1 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 3:95,564,017...95,583,553
Ensembl chr 3:95,566,099...95,570,487 		JBrowse link
G Mef2d myocyte enhancer factor 2D ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 3:88,049,248...88,079,398
Ensembl chr 3:88,049,679...88,079,393 		JBrowse link
G Mettl25b methyltransferase like 25B ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 3:87,829,908...87,838,337
Ensembl chr 3:87,829,908...87,838,024 		JBrowse link
G Mex3a mex3 RNA binding family member A ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 3:88,439,253...88,448,701
Ensembl chr 3:88,439,702...88,448,703 		JBrowse link
G Mindy1 MINDY lysine 48 deubiquitinase 1 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 3:95,189,237...95,203,477
Ensembl chr 3:95,188,656...95,203,477 		JBrowse link
G Mir9-1 microRNA 9-1 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 3:88,122,905...88,122,993
Ensembl chr 3:88,122,905...88,122,993 		JBrowse link
G Mllt11 myeloid/lymphoid or mixed-lineage leukemia; translocated to, 11 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 3:95,125,852...95,139,486
Ensembl chr 3:95,126,446...95,139,482 		JBrowse link
G Mrpl24 mitochondrial ribosomal protein L24 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 3:87,825,438...87,830,757
Ensembl chr 3:87,826,813...87,830,979 		JBrowse link
G Mrpl9 mitochondrial ribosomal protein L9 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 3:94,350,631...94,355,831
Ensembl chr 3:94,350,625...94,358,437 		JBrowse link
G Mrps21 mitochondrial ribosomal protein S21 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 3:95,769,946...95,778,826
Ensembl chr 3:95,769,946...95,778,831 		JBrowse link
G Msto1 misato 1, mitochondrial distribution and morphology regulator ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 3:88,816,923...88,821,257
Ensembl chr 3:88,812,414...88,821,306 		JBrowse link
G Mtmr11 myotubularin related protein 11 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 3:96,069,287...96,079,034
Ensembl chr 3:96,069,321...96,079,034 		JBrowse link
G Mtx1 metaxin 1 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 3:89,116,388...89,121,214
Ensembl chr 3:89,116,388...89,134,395 		JBrowse link
G Muc1 mucin 1, transmembrane ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 3:89,136,363...89,140,688
Ensembl chr 3:89,136,364...89,140,688 		JBrowse link
G Naxe NAD(P)HX epimerase ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 3:87,963,827...87,965,851
Ensembl chr 3:87,963,827...87,965,802 		JBrowse link
G Nes nestin ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 3:87,878,400...87,887,758
Ensembl chr 3:87,878,385...87,887,758 		JBrowse link
G Npr1 natriuretic peptide receptor 1 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 3:90,357,898...90,373,235
Ensembl chr 3:90,357,898...90,373,173 		JBrowse link
G Ntrk1 neurotrophic tyrosine kinase, receptor, type 1 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 3:87,685,551...87,702,549
Ensembl chr 3:87,685,551...87,702,469 		JBrowse link
G Nup210l nucleoporin 210-like ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:17187068 PMID:28492532 NCBI chr 3:90,011,445...90,119,458
Ensembl chr 3:90,011,439...90,119,355 		JBrowse link
G Oaz3 ornithine decarboxylase antizyme 3 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 3:94,340,694...94,343,958
Ensembl chr 3:94,339,721...94,351,222 		JBrowse link
G Otud7b OTU domain containing 7B ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 3:96,011,759...96,068,446
Ensembl chr 3:96,011,839...96,068,446 		JBrowse link
G Paqr6 progestin and adipoQ receptor family member VI ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 3:88,271,376...88,275,848
Ensembl chr 3:88,271,891...88,275,848 		JBrowse link
G Pbxip1 pre B cell leukemia transcription factor interacting protein 1 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 3:89,343,982...89,358,259
Ensembl chr 3:89,344,013...89,358,259 		JBrowse link
G Pglyrp3 peptidoglycan recognition protein 3 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 3:91,919,784...91,939,979
Ensembl chr 3:91,921,890...91,938,889 		JBrowse link
G Pglyrp4 peptidoglycan recognition protein 4 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 3:90,634,008...90,648,824
Ensembl chr 3:90,634,213...90,648,824 		JBrowse link
G Pi4kb phosphatidylinositol 4-kinase beta ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 3:94,882,042...94,914,248
Ensembl chr 3:94,882,042...94,914,154 		JBrowse link
G Pip5k1a phosphatidylinositol-4-phosphate 5-kinase, type 1 alpha ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 3:94,965,841...95,014,241
Ensembl chr 3:94,965,841...95,014,241 		JBrowse link
G Pklr pyruvate kinase liver and red blood cell ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 3:89,043,429...89,054,122
Ensembl chr 3:89,043,449...89,054,091 		JBrowse link
G Plekho1 pleckstrin homology domain containing, family O member 1 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 3:95,896,110...95,903,258
Ensembl chr 3:95,895,741...95,903,313 		JBrowse link
G Pmf1 polyamine-modulated factor 1 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 3:88,301,445...88,317,752
Ensembl chr 3:88,301,450...88,317,638 		JBrowse link
G Pmvk phosphomevalonate kinase ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 3:89,361,848...89,376,321
Ensembl chr 3:89,361,848...89,376,320 		JBrowse link
G Pogz pogo transposable element with ZNF domain ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 3:94,730,289...94,790,888
Ensembl chr 3:94,744,878...94,789,637 		JBrowse link
G Prcc papillary renal cell carcinoma (translocation-associated) ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 3:87,766,210...87,792,869
Ensembl chr 3:87,766,210...87,792,915 		JBrowse link
G Prpf3 pre-mRNA processing factor 3 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 3:95,737,436...95,763,197
Ensembl chr 3:95,737,436...95,763,197 		JBrowse link
G Prr9 proline rich 9 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 3:92,029,511...92,031,254
Ensembl chr 3:92,029,511...92,031,254 		JBrowse link
G Prune1 prune exopolyphosphatase ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 3:95,160,985...95,190,817
Ensembl chr 3:95,160,985...95,189,387 		JBrowse link
G Psmb4 proteasome (prosome, macropain) subunit, beta type 4 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 3:94,791,635...94,794,269
Ensembl chr 3:94,791,404...94,794,272 		JBrowse link
G Psmd4 proteasome (prosome, macropain) 26S subunit, non-ATPase, 4 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 3:94,939,999...94,949,880
Ensembl chr 3:94,940,005...94,949,925 		JBrowse link
G Pygo2 pygopus 2 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 3:89,337,521...89,342,438
Ensembl chr 3:89,337,521...89,342,435 		JBrowse link
G Rab13 RAB13, member RAS oncogene family ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 3:90,121,022...90,133,694
Ensembl chr 3:90,121,002...90,133,692 		JBrowse link
G Rab25 RAB25, member RAS oncogene family ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 3:88,449,335...88,455,586
Ensembl chr 3:88,449,336...88,455,607 		JBrowse link
G Rfx5 regulatory factor X, 5 (influences HLA class II expression) ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 3:94,861,355...94,868,685
Ensembl chr 3:94,861,386...94,868,872 		JBrowse link
G Rhbg Rhesus blood group-associated B glycoprotein ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 3:88,150,181...88,162,046
Ensembl chr 3:88,150,181...88,162,016 		JBrowse link
G Riiad1 regulatory subunit of type II PKA R-subunit (RIIa) domain containing 1 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 3:94,372,291...94,387,661
Ensembl chr 3:94,372,290...94,387,648 		JBrowse link
G Rit1 Ras-like without CAAX 1 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 3:88,624,154...88,638,354
Ensembl chr 3:88,624,145...88,638,356 		JBrowse link
G Rorc RAR-related orphan receptor gamma ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 3:94,280,101...94,305,583
Ensembl chr 3:94,280,101...94,305,583 		JBrowse link
G Rprd2 regulation of nuclear pre-mRNA domain containing 2 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 3:95,667,183...95,727,034
Ensembl chr 3:95,667,653...95,726,175 		JBrowse link
G Rps27 ribosomal protein S27 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:17187068 PMID:28492532 NCBI chr 3:90,119,974...90,120,955
Ensembl chr 3:90,119,829...90,120,958 		JBrowse link
G Rptn repetin ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 3:93,301,006...93,306,749
Ensembl chr 3:93,301,006...93,306,749 		JBrowse link
G Rusc1 RUN and SH3 domain containing 1 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 3:88,991,282...89,000,670
Ensembl chr 3:88,991,288...89,000,618 		JBrowse link
G Rxfp4 relaxin family peptide receptor 4 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 3:88,559,081...88,560,489
Ensembl chr 3:88,559,205...88,560,449 		JBrowse link
G S100a1 S100 calcium binding protein A1 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 3:90,418,341...90,421,637
Ensembl chr 3:90,418,341...90,421,699 		JBrowse link
G S100a10 S100 calcium binding protein A10 (calpactin) ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 3:93,462,424...93,471,952
Ensembl chr 3:93,462,387...93,471,950 		JBrowse link
G S100a11 S100 calcium binding protein A11 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 3:93,427,803...93,433,595
Ensembl chr 3:93,427,795...93,433,594 		JBrowse link
G S100a13 S100 calcium binding protein A13 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 3:90,421,542...90,431,888
Ensembl chr 3:90,421,742...90,431,888 		JBrowse link
G S100a14 S100 calcium binding protein A14 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 3:90,434,156...90,436,144
Ensembl chr 3:90,434,163...90,436,144 		JBrowse link
G S100a16 S100 calcium binding protein A16 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 3:90,444,561...90,450,458
Ensembl chr 3:90,444,561...90,450,458 		JBrowse link
G S100a2 S100 calcium binding protein A2 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 3:90,497,554...90,498,815
Ensembl chr 3:90,467,670...90,498,838 		JBrowse link
G S100a3 S100 calcium binding protein A3 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 3:90,467,571...90,510,922
Ensembl chr 3:90,491,966...90,510,009 		JBrowse link
G S100a4 S100 calcium binding protein A4 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 3:90,511,077...90,513,349
Ensembl chr 3:90,511,078...90,513,352 		JBrowse link
G S100a5 S100 calcium binding protein A5 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 3:90,513,787...90,519,091
Ensembl chr 3:90,515,830...90,519,087 		JBrowse link
G S100a6 S100 calcium binding protein A6 (calcyclin) ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 3:90,520,491...90,531,797
Ensembl chr 3:90,520,189...90,531,488 		JBrowse link
G S100a7a S100 calcium binding protein A7A ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 3:90,561,609...90,565,437
Ensembl chr 3:90,561,324...90,565,976 		JBrowse link
G S100a8 S100 calcium binding protein A8 (calgranulin A) ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 3:90,576,378...90,577,341
Ensembl chr 3:90,576,285...90,577,342 		JBrowse link
G S100a9 S100 calcium binding protein A9 (calgranulin B) ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 3:90,599,937...90,603,028
Ensembl chr 3:90,599,939...90,603,028 		JBrowse link
G Scamp3 secretory carrier membrane protein 3 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 3:89,084,698...89,090,077
Ensembl chr 3:89,084,780...89,090,072 		JBrowse link
G Scnm1 sodium channel modifier 1 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 3:95,037,030...95,041,285
Ensembl chr 3:95,036,847...95,041,322 		JBrowse link
G Selenbp1 selenium binding protein 1 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 3:94,840,394...94,852,069
Ensembl chr 3:94,840,367...94,852,069 		JBrowse link
G Sema4a sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 3:88,343,266...88,368,500
Ensembl chr 3:88,343,266...88,368,489 		JBrowse link
G Sema6c sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6C ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 3:95,067,731...95,081,361
Ensembl chr 3:95,067,768...95,081,335 		JBrowse link
G Setdb1 SET domain, bifurcated 1 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 3:95,230,836...95,264,513
Ensembl chr 3:95,230,836...95,264,513 		JBrowse link
G Sf3b4 splicing factor 3b, subunit 4 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 3:96,079,822...96,084,880
Ensembl chr 3:96,079,648...96,084,880 		JBrowse link
G Sh2d2a SH2 domain containing 2A ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 3:87,754,070...87,763,116
Ensembl chr 3:87,754,062...87,763,029 		JBrowse link
G Shc1 src homology 2 domain-containing transforming protein C1 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 3:89,325,858...89,337,336
Ensembl chr 3:89,325,750...89,337,334 		JBrowse link
G She src homology 2 domain-containing transforming protein E ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:17187068 PMID:28492532 NCBI chr 3:89,738,667...89,766,149
Ensembl chr 3:89,738,677...89,766,141 		JBrowse link
G Slc25a44 solute carrier family 25, member 44 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 3:88,317,801...88,334,303
Ensembl chr 3:88,317,805...88,332,446 		JBrowse link
G Slc27a3 solute carrier family 27 (fatty acid transporter), member 3 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 3:90,292,540...90,298,693
Ensembl chr 3:90,292,546...90,297,245 		JBrowse link
G Slc39a1 solute carrier family 39 (zinc transporter), member 1 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 3:90,155,512...90,160,923
Ensembl chr 3:90,155,479...90,160,919 		JBrowse link
G Slc50a1 solute carrier family 50 (sugar transporter), member 1 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 3:89,175,553...89,177,878
Ensembl chr 3:89,175,553...89,177,877 		JBrowse link
G Smcp sperm mitochondria-associated cysteine-rich protein ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 3:92,491,173...92,496,380
Ensembl chr 3:92,491,174...92,496,304 		JBrowse link
G Smg5 SMG5 nonsense mediated mRNA decay factor ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 3:88,242,050...88,269,645
Ensembl chr 3:88,243,567...88,269,645 		JBrowse link
G Snapin SNAP-associated protein ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 3:90,395,333...90,398,320
Ensembl chr 3:90,395,333...90,398,340 		JBrowse link
G Snx27 sorting nexin family member 27 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 3:94,404,849...94,490,023
Ensembl chr 3:94,404,851...94,490,023 		JBrowse link
G Sprr1a small proline-rich protein 1A ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 3:92,391,261...92,393,188
Ensembl chr 3:92,391,259...92,393,202 		JBrowse link
G Sprr1b small proline-rich protein 1B ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 3:92,344,115...92,346,124
Ensembl chr 3:92,344,116...92,346,096 		JBrowse link
G Sprr2b small proline-rich protein 2B ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 3:92,224,012...92,225,448
Ensembl chr 3:92,223,927...92,225,392 		JBrowse link
G Sprr2d small proline-rich protein 2D ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 3:92,246,447...92,248,187
Ensembl chr 3:92,246,447...92,248,180 		JBrowse link
G Sprr2e small proline-rich protein 2E ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 3:92,259,450...92,260,757
Ensembl chr 3:92,259,450...92,260,756 		JBrowse link
G Sprr2f small proline-rich protein 2F ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 3:92,272,494...92,273,754
Ensembl chr 3:92,272,494...92,273,749 		JBrowse link
G Sprr2g small proline-rich protein 2G ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 3:92,281,222...92,282,536
Ensembl chr 3:92,281,222...92,282,536 		JBrowse link
G Sprr2h small proline-rich protein 2H ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 3:92,292,992...92,294,631
Ensembl chr 3:92,292,992...92,294,631 		JBrowse link
G Sprr3 small proline-rich protein 3 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 3:92,363,809...92,366,027
Ensembl chr 3:92,363,809...92,366,027 		JBrowse link
G Sprr4 small proline-rich protein 4 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 3:92,407,570...92,407,800
Ensembl chr 3:92,407,570...92,407,800 		JBrowse link
G Ssr2 signal sequence receptor, beta ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 3:88,486,915...88,495,727
Ensembl chr 3:88,483,183...88,495,726 		JBrowse link
G Syt11 synaptotagmin XI ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 3:88,652,006...88,682,466
Ensembl chr 3:88,652,007...88,682,471 		JBrowse link
G Tars2 threonyl-tRNA synthetase 2, mitochondrial (putative) ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 3:95,647,286...95,663,677
Ensembl chr 3:95,647,288...95,667,518 		JBrowse link
G Tchh trichohyalin ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 3:93,348,071...93,356,382
Ensembl chr 3:93,349,637...93,356,384 		JBrowse link
G Tchhl1 trichohyalin-like 1 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 3:93,376,061...93,379,287
Ensembl chr 3:93,376,061...93,379,287 		JBrowse link
G Tdrkh tudor and KH domain containing protein ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 3:94,320,551...94,342,161
Ensembl chr 3:94,320,580...94,341,975 		JBrowse link
G Thbs3 thrombospondin 3 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 3:89,122,470...89,134,148
Ensembl chr 3:89,122,487...89,134,144 		JBrowse link
G Them4 thioesterase superfamily member 4 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 3:94,217,415...94,239,847
Ensembl chr 3:94,217,396...94,239,847 		JBrowse link
G Them5 thioesterase superfamily member 5 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 3:94,249,406...94,254,659
Ensembl chr 3:94,249,406...94,254,659 		JBrowse link
G Tmem79 transmembrane protein 79 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 3:88,236,351...88,241,761
Ensembl chr 3:88,235,962...88,243,455 		JBrowse link
G Tmod4 tropomodulin 4 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 3:95,030,110...95,036,520
Ensembl chr 3:95,031,787...95,036,520 		JBrowse link
G Tnfaip8l2 tumor necrosis factor, alpha-induced protein 8-like 2 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 3:95,046,832...95,051,581
Ensembl chr 3:95,046,832...95,049,671 		JBrowse link
G Tpm3 tropomyosin 3, gamma ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:17187068 PMID:28492532 NCBI chr 3:89,979,958...90,008,209
Ensembl chr 3:89,979,956...90,008,209 		JBrowse link
G Trim46 tripartite motif-containing 46 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 3:89,141,476...89,153,655
Ensembl chr 3:89,141,484...89,153,616 		JBrowse link
G Tsacc TSSK6 activating co-chaperone ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 3:88,190,059...88,204,306
Ensembl chr 3:88,190,064...88,204,306 		JBrowse link
G Ttc24 tetratricopeptide repeat domain 24 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 3:87,976,717...87,985,611
Ensembl chr 3:87,976,717...87,985,611 		JBrowse link
G Tuft1 tuftelin 1 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 3:94,520,060...94,566,179
Ensembl chr 3:94,520,064...94,566,179 		JBrowse link
G Ubap2l ubiquitin-associated protein 2-like ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:17187068 PMID:28492532 NCBI chr 3:89,906,896...89,959,867
Ensembl chr 3:89,907,447...89,959,935 		JBrowse link
G Ube2q1 ubiquitin-conjugating enzyme E2Q family member 1 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:17187068 PMID:28492532 NCBI chr 3:89,680,905...89,691,304
Ensembl chr 3:89,680,923...89,691,307 		JBrowse link
G Ubqln4 ubiquilin 4 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 3:88,460,984...88,477,032
Ensembl chr 3:88,461,065...88,477,032 		JBrowse link
G Vps45 vacuolar protein sorting 45 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Kostmann syndrome		 CTD
ClinVar		 PMID:23599270 PMID:28492532 NCBI chr 3:95,907,144...95,969,715
Ensembl chr 3:95,907,144...95,965,778 		JBrowse link
G Vps72 vacuolar protein sorting 72 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 3:95,018,353...95,030,362
Ensembl chr 3:95,018,333...95,030,362 		JBrowse link
G Zbtb7b zinc finger and BTB domain containing 7B ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 3:89,284,953...89,300,976
Ensembl chr 3:89,284,951...89,302,083 		JBrowse link
G Zfp687 zinc finger protein 687 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 3:94,901,726...94,923,259
Ensembl chr 3:94,913,901...94,922,759 		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, 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 chr11:102,080,525...102,084,907
Ensembl chr11:102,080,446...102,084,907 		JBrowse link
severe congenital neutropenia 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 4933434E20Rik RIKEN cDNA 4933434E20 gene ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 3:89,958,941...89,969,754
Ensembl chr 3:89,958,943...89,970,648
Ensembl chr 3:89,958,943...89,970,648 		JBrowse link
G Adam15 a disintegrin and metallopeptidase domain 15 (metargidin) ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 3:89,246,947...89,257,589
Ensembl chr 3:89,245,849...89,257,303 		JBrowse link
G Adamtsl4 ADAMTS-like 4 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 3:95,583,511...95,595,232
Ensembl chr 3:95,583,511...95,595,228 		JBrowse link
G Adar adenosine deaminase, RNA-specific ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 3:89,622,321...89,660,756
Ensembl chr 3:89,622,329...89,660,753 		JBrowse link
G Anp32e acidic (leucine-rich) nuclear phosphoprotein 32 family, member E ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 3:95,836,557...95,854,699
Ensembl chr 3:95,836,558...95,854,702 		JBrowse link
G Anxa9 annexin A9 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 3:95,203,404...95,222,491
Ensembl chr 3:95,203,407...95,214,487 		JBrowse link
G Aph1a aph1 homolog A, gamma secretase subunit ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 3:95,801,233...95,805,904
Ensembl chr 3:95,801,281...95,805,600 		JBrowse link
G Aqp10-ps aquaporin 10, pseudogene ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 3:89,870,751...89,877,041
Ensembl chr 3:89,872,016...89,875,965 		JBrowse link
G Arhgef2 rho/rac guanine nucleotide exchange factor (GEF) 2 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 3:88,500,427...88,556,839
Ensembl chr 3:88,513,273...88,555,359 		JBrowse link
G Arnt aryl hydrocarbon receptor nuclear translocator ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 3:95,341,674...95,404,551
Ensembl chr 3:95,341,699...95,404,551 		JBrowse link
G Ash1l ASH1 like histone lysine methyltransferase ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 3:88,857,721...88,986,682
Ensembl chr 3:88,857,929...88,986,682 		JBrowse link
G Atp8b2 ATPase, class I, type 8B, member 2 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 3:89,846,795...89,870,645
Ensembl chr 3:89,846,788...89,870,815 		JBrowse link
G BC028528 cDNA sequence BC028528 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 3:95,789,665...95,800,186
Ensembl chr 3:95,791,266...95,799,317 		JBrowse link
G Bcan brevican ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 3:87,894,839...87,908,458
Ensembl chr 3:87,894,838...87,907,537 		JBrowse link
G Bglap bone gamma carboxyglutamate protein ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 3:88,290,802...88,291,773
Ensembl chr 3:88,290,808...88,291,771 		JBrowse link
G Bnipl BCL2/adenovirus E1B 19kD interacting protein like ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 3:95,148,587...95,158,504
Ensembl chr 3:95,148,582...95,158,504 		JBrowse link
G C2cd4d C2 calcium-dependent domain containing 4D ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 3:94,269,720...94,271,874
Ensembl chr 3:94,269,745...94,271,873 		JBrowse link
G Car14 carbonic anhydrase 14 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 3:95,805,080...95,812,443
Ensembl chr 3:95,805,080...95,812,003 		JBrowse link
G Cct3 chaperonin containing Tcp1, subunit 3 (gamma) ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 3:88,204,442...88,229,073
Ensembl chr 3:88,204,423...88,229,074 		JBrowse link
G Cdc42se1 CDC42 small effector 1 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 3:95,135,735...95,143,735
Ensembl chr 3:95,136,043...95,143,720 		JBrowse link
G Celf3 CUGBP, Elav-like family member 3 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 3:94,385,581...94,405,822
Ensembl chr 3:94,385,602...94,399,505 		JBrowse link
G Cers2 ceramide synthase 2 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 3:95,222,077...95,230,910
Ensembl chr 3:95,222,102...95,230,910 		JBrowse link
G Cfap141 cilia and flagella associated protein 141 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 3:89,970,115...89,975,654
Ensembl chr 3:89,970,103...89,973,182 		JBrowse link
G Cgn cingulin ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 3:94,667,376...94,695,036
Ensembl chr 3:94,667,376...94,693,826 		JBrowse link
G Chrnb2 cholinergic receptor, nicotinic, beta polypeptide 2 (neuronal) ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 3:89,660,755...89,671,939
Ensembl chr 3:89,653,502...89,671,939 		JBrowse link
G Chtop chromatin target of PRMT1 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 3:90,405,846...90,417,400
Ensembl chr 3:90,406,263...90,416,805 		JBrowse link
G Ciart circadian associated repressor of transcription ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 3:95,785,812...95,790,012
Ensembl chr 3:95,785,815...95,789,563 		JBrowse link
G Cks1b CDC28 protein kinase 1b ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 3:89,322,779...89,325,598
Ensembl chr 3:89,322,779...89,325,690 		JBrowse link
G Clk2 CDC-like kinase 2 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 3:89,072,102...89,084,394
Ensembl chr 3:89,072,102...89,084,228 		JBrowse link
G Crabp2 cellular retinoic acid binding protein II ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 3:87,856,000...87,860,679
Ensembl chr 3:87,855,973...87,860,683 		JBrowse link
G Crct1 cysteine-rich C-terminal 1 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 3:92,921,512...92,922,993
Ensembl chr 3:92,921,512...92,922,994 		JBrowse link
G Creb3l4 cAMP responsive element binding protein 3-like 4 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 3:90,144,805...90,161,387
Ensembl chr 3:90,144,807...90,150,819 		JBrowse link
G Crnn cornulin ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 3:93,052,096...93,057,125
Ensembl chr 3:93,052,094...93,057,126 		JBrowse link
G Crtc2 CREB regulated transcription coactivator 2 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 3:90,161,475...90,171,432
Ensembl chr 3:90,161,470...90,171,432 		JBrowse link
G Ctsk cathepsin K ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 3:95,406,521...95,416,698
Ensembl chr 3:95,406,567...95,416,673 		JBrowse link
G Ctss cathepsin S ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 3:95,434,097...95,463,716
Ensembl chr 3:95,434,097...95,463,714 		JBrowse link
G Dap3 death associated protein 3 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 3:88,828,110...88,858,504
Ensembl chr 3:88,828,110...88,858,488 		JBrowse link
G Dcst1 DC-STAMP domain containing 1 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 3:89,257,526...89,272,560
Ensembl chr 3:89,257,526...89,272,560 		JBrowse link
G Dcst2 DC-STAMP domain containing 2 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 3:89,257,724...89,284,950
Ensembl chr 3:89,269,282...89,284,856 		JBrowse link
G Dennd4b DENN domain containing 4B ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 3:90,172,281...90,187,972
Ensembl chr 3:90,172,492...90,187,976 		JBrowse link
G Dpm3 dolichyl-phosphate mannosyltransferase polypeptide 3 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 3:89,166,567...89,174,386
Ensembl chr 3:89,166,665...89,174,386 		JBrowse link
G Ecm1 extracellular matrix protein 1 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 3:95,641,459...95,646,880
Ensembl chr 3:95,641,459...95,646,881 		JBrowse link
G Efna1 ephrin A1 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 3:89,179,037...89,188,258
Ensembl chr 3:89,179,040...89,188,449 		JBrowse link
G Efna3 ephrin A3 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 3:89,221,200...89,231,359
Ensembl chr 3:89,221,206...89,230,272 		JBrowse link
G Efna4 ephrin A4 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 3:89,240,700...89,245,335
Ensembl chr 3:89,240,697...89,245,335 		JBrowse link
G Ensa endosulfine alpha ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 3:95,532,291...95,539,428
Ensembl chr 3:95,532,304...95,539,413 		JBrowse link
G Entrep3 endosomal transmembrane epsin interactor 3 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 3:89,089,996...89,096,598
Ensembl chr 3:89,090,450...89,096,602 		JBrowse link
G Fdps farnesyl diphosphate synthetase ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 3:89,000,895...89,009,274
Ensembl chr 3:89,000,895...89,009,266 		JBrowse link
G Flad1 flavin adenine dinucleotide synthetase 1 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 3:89,309,980...89,319,188
Ensembl chr 3:89,308,311...89,319,177 		JBrowse link
G Flg filaggrin ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 3:93,180,853...93,200,996
Ensembl chr 3:93,180,830...93,200,993 		JBrowse link
G Flg2 filaggrin family member 2 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 3:93,104,585...93,128,701
Ensembl chr 3:93,104,585...93,128,698 		JBrowse link
G Gabpb2 GA repeat binding protein, beta 2 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 3:95,089,077...95,125,291
Ensembl chr 3:95,089,077...95,125,227 		JBrowse link
G Gatad2b GATA zinc finger domain containing 2B ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 3:90,200,488...90,270,712
Ensembl chr 3:90,200,485...90,270,714 		JBrowse link
G Gba glucosidase, beta, acid ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 3:89,110,235...89,119,944
Ensembl chr 3:89,110,235...89,116,273 		JBrowse link
G Glmp glycosylated lysosomal membrane protein ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 3:88,232,330...88,235,938
Ensembl chr 3:88,232,330...88,238,620 		JBrowse link
G Gm128 predicted gene 128 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 3:95,144,230...95,148,946
Ensembl chr 3:95,144,231...95,148,909 		JBrowse link
G Gm3764 predicted gene 3764 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 3:88,113,980...88,137,266
Ensembl chr 3:88,113,837...88,137,268 		JBrowse link
G Golph3l golgi phosphoprotein 3-like ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 3:95,496,280...95,526,553
Ensembl chr 3:95,496,245...95,526,553 		JBrowse link
G Gon4l gon-4-like (C.elegans) ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 3:88,742,531...88,817,406
Ensembl chr 3:88,742,535...88,817,410 		JBrowse link
G Gpatch4 G patch domain containing 4 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 3:87,950,413...87,963,301
Ensembl chr 3:87,950,415...87,963,300 		JBrowse link
G Hapln2 hyaluronan and proteoglycan link protein 2 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 3:87,927,865...87,934,818
Ensembl chr 3:87,929,057...87,934,890 		JBrowse link
G Hax1 HCLS1 associated X-1 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 3:89,902,753...89,906,023
Ensembl chr 3:89,902,753...89,906,087 		JBrowse link
G Hcn3 hyperpolarization-activated, cyclic nucleotide-gated K+ 3 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 3:89,054,082...89,067,538
Ensembl chr 3:89,053,381...89,067,503 		JBrowse link
G Hdgf heparin binding growth factor ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 3:87,813,844...87,823,439
Ensembl chr 3:87,813,628...87,823,439 		JBrowse link
G Hormad1 HORMA domain containing 1 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 3:95,466,988...95,495,174
Ensembl chr 3:95,466,988...95,494,982 		JBrowse link
G Hrnr hornerin ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 3:93,227,056...93,240,879
Ensembl chr 3:93,227,056...93,240,877 		JBrowse link
G Il6ra interleukin 6 receptor, alpha ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 3:89,776,631...89,820,503
Ensembl chr 3:89,771,366...89,820,503 		JBrowse link
G Ilf2 interleukin enhancer binding factor 2 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 3:90,383,421...90,395,686
Ensembl chr 3:90,383,433...90,395,686 		JBrowse link
G Insrr insulin receptor-related receptor ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 3:87,704,215...87,723,408
Ensembl chr 3:87,704,258...87,723,408 		JBrowse link
G Ints3 integrator complex subunit 3 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 3:90,298,687...90,340,943
Ensembl chr 3:90,298,695...90,340,929 		JBrowse link
G Iqgap3 IQ motif containing GTPase activating protein 3 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 3:87,989,309...88,028,355
Ensembl chr 3:87,989,278...88,028,355 		JBrowse link
G Isg20l2 interferon stimulated exonuclease gene 20-like 2 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 3:87,837,602...87,847,994
Ensembl chr 3:87,837,621...87,847,993 		JBrowse link
G Ivl involucrin ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 3:92,478,206...92,481,097
Ensembl chr 3:92,478,209...92,481,042 		JBrowse link
G Jtb jumping translocation breakpoint ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 3:90,138,904...90,143,147
Ensembl chr 3:90,138,904...90,143,145 		JBrowse link
G Kcnn3 potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 3:89,427,471...89,579,801
Ensembl chr 3:89,427,471...89,582,439 		JBrowse link
G Khdc4 KH domain containing 4, pre-mRNA splicing factor ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 3:88,593,087...88,620,240
Ensembl chr 3:88,593,110...88,620,231 		JBrowse link
G Kplce KPRP N-terminal and LCE C-terminal like protein ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 3:92,775,666...92,777,512
Ensembl chr 3:92,775,666...92,777,523 		JBrowse link
G Kprp keratinocyte expressed, proline-rich ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 3:92,730,381...92,734,554
Ensembl chr 3:92,730,381...92,734,554 		JBrowse link
G Krtcap2 keratinocyte associated protein 2 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 3:89,153,201...89,157,036
Ensembl chr 3:89,153,273...89,157,213 		JBrowse link
G Lamtor2 late endosomal/lysosomal adaptor, MAPK and MTOR activator 2 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 3:88,457,126...88,460,258
Ensembl chr 3:88,457,126...88,460,381 		JBrowse link
G Lce1b late cornified envelope 1B ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 3:92,562,957...92,564,233
Ensembl chr 3:92,562,957...92,564,233 		JBrowse link
G Lce1c late cornified envelope 1C ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 3:92,586,554...92,588,225
Ensembl chr 3:92,586,554...92,588,225 		JBrowse link
G Lce1d late cornified envelope 1D ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 3:92,592,806...92,594,517
Ensembl chr 3:92,592,806...92,594,517 		JBrowse link
G Lce1e late cornified envelope 1E ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 3:92,614,707...92,616,381
Ensembl chr 3:92,614,708...92,616,381 		JBrowse link
G Lce1f late cornified envelope 1F ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 3:92,626,003...92,627,657
Ensembl chr 3:92,625,992...92,627,657 		JBrowse link
G Lce1m late cornified envelope 1M ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 3:92,925,114...92,926,368
Ensembl chr 3:92,925,117...92,926,367 		JBrowse link
G Lce3c late cornified envelope 3C ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 3:92,851,793...92,853,038
Ensembl chr 3:92,851,793...92,853,040 		JBrowse link
G Lce3d late cornified envelope 3D ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 3:92,864,695...92,865,881
Ensembl chr 3:92,864,697...92,865,812 		JBrowse link
G Lce3e late cornified envelope 3E ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 3:92,874,368...92,875,588
Ensembl chr 3:92,874,368...92,875,588 		JBrowse link
G Lce6a late cornified envelope 6A ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 3:92,512,128...92,528,975
Ensembl chr 3:92,527,388...92,528,967 		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 chr 3:92,042,301...92,050,061
Ensembl chr 3:92,042,304...92,050,051 		JBrowse link
G Lenep lens epithelial protein ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 3:89,309,203...89,309,957
Ensembl chr 3:89,308,295...89,310,100 		JBrowse link
G Lingo4 leucine rich repeat and Ig domain containing 4 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 3:94,306,526...94,311,820
Ensembl chr 3:94,305,824...94,311,808 		JBrowse link
G Lmna lamin A ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 3:88,388,455...88,413,842
Ensembl chr 3:88,387,454...88,417,263 		JBrowse link
G Lor loricrin cornified envelope precursor protein ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 3:91,987,578...91,990,447
Ensembl chr 3:91,987,578...91,990,449 		JBrowse link
G Lysmd1 LysM, putative peptidoglycan-binding, domain containing 1 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 3:95,041,399...95,046,836
Ensembl chr 3:95,041,399...95,046,829 		JBrowse link
G Mcl1 myeloid cell leukemia sequence 1 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 3:95,564,017...95,583,553
Ensembl chr 3:95,566,099...95,570,487 		JBrowse link
G Mef2d myocyte enhancer factor 2D ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 3:88,049,248...88,079,398
Ensembl chr 3:88,049,679...88,079,393 		JBrowse link
G Mettl25b methyltransferase like 25B ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 3:87,829,908...87,838,337
Ensembl chr 3:87,829,908...87,838,024 		JBrowse link
G Mex3a mex3 RNA binding family member A ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 3:88,439,253...88,448,701
Ensembl chr 3:88,439,702...88,448,703 		JBrowse link
G Mindy1 MINDY lysine 48 deubiquitinase 1 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 3:95,189,237...95,203,477
Ensembl chr 3:95,188,656...95,203,477 		JBrowse link
G Mir9-1 microRNA 9-1 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 3:88,122,905...88,122,993
Ensembl chr 3:88,122,905...88,122,993 		JBrowse link
G Mllt11 myeloid/lymphoid or mixed-lineage leukemia; translocated to, 11 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 3:95,125,852...95,139,486
Ensembl chr 3:95,126,446...95,139,482 		JBrowse link
G Mrpl24 mitochondrial ribosomal protein L24 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 3:87,825,438...87,830,757
Ensembl chr 3:87,826,813...87,830,979 		JBrowse link
G Mrpl9 mitochondrial ribosomal protein L9 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 3:94,350,631...94,355,831
Ensembl chr 3:94,350,625...94,358,437 		JBrowse link
G Mrps21 mitochondrial ribosomal protein S21 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 3:95,769,946...95,778,826
Ensembl chr 3:95,769,946...95,778,831 		JBrowse link
G Msto1 misato 1, mitochondrial distribution and morphology regulator ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 3:88,816,923...88,821,257
Ensembl chr 3:88,812,414...88,821,306 		JBrowse link
G Mtmr11 myotubularin related protein 11 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 3:96,069,287...96,079,034
Ensembl chr 3:96,069,321...96,079,034 		JBrowse link
G Mtx1 metaxin 1 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 3:89,116,388...89,121,214
Ensembl chr 3:89,116,388...89,134,395 		JBrowse link
G Muc1 mucin 1, transmembrane ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 3:89,136,363...89,140,688
Ensembl chr 3:89,136,364...89,140,688 		JBrowse link
G Naxe NAD(P)HX epimerase ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 3:87,963,827...87,965,851
Ensembl chr 3:87,963,827...87,965,802 		JBrowse link
G Nes nestin ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 3:87,878,400...87,887,758
Ensembl chr 3:87,878,385...87,887,758 		JBrowse link
G Npr1 natriuretic peptide receptor 1 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 3:90,357,898...90,373,235
Ensembl chr 3:90,357,898...90,373,173 		JBrowse link
G Ntrk1 neurotrophic tyrosine kinase, receptor, type 1 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 3:87,685,551...87,702,549
Ensembl chr 3:87,685,551...87,702,469 		JBrowse link
G Nup210l nucleoporin 210-like ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 3:90,011,445...90,119,458
Ensembl chr 3:90,011,439...90,119,355 		JBrowse link
G Oaz3 ornithine decarboxylase antizyme 3 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 3:94,340,694...94,343,958
Ensembl chr 3:94,339,721...94,351,222 		JBrowse link
G Otud7b OTU domain containing 7B ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 3:96,011,759...96,068,446
Ensembl chr 3:96,011,839...96,068,446 		JBrowse link
G Paqr6 progestin and adipoQ receptor family member VI ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 3:88,271,376...88,275,848
Ensembl chr 3:88,271,891...88,275,848 		JBrowse link
G Pbxip1 pre B cell leukemia transcription factor interacting protein 1 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 3:89,343,982...89,358,259
Ensembl chr 3:89,344,013...89,358,259 		JBrowse link
G Pglyrp3 peptidoglycan recognition protein 3 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 3:91,919,784...91,939,979
Ensembl chr 3:91,921,890...91,938,889 		JBrowse link
G Pglyrp4 peptidoglycan recognition protein 4 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 3:90,634,008...90,648,824
Ensembl chr 3:90,634,213...90,648,824 		JBrowse link
G Pi4kb phosphatidylinositol 4-kinase beta ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 3:94,882,042...94,914,248
Ensembl chr 3:94,882,042...94,914,154 		JBrowse link
G Pip5k1a phosphatidylinositol-4-phosphate 5-kinase, type 1 alpha ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 3:94,965,841...95,014,241
Ensembl chr 3:94,965,841...95,014,241 		JBrowse link
G Pklr pyruvate kinase liver and red blood cell ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 3:89,043,429...89,054,122
Ensembl chr 3:89,043,449...89,054,091 		JBrowse link
G Plekho1 pleckstrin homology domain containing, family O member 1 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 3:95,896,110...95,903,258
Ensembl chr 3:95,895,741...95,903,313 		JBrowse link
G Pmf1 polyamine-modulated factor 1 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 3:88,301,445...88,317,752
Ensembl chr 3:88,301,450...88,317,638 		JBrowse link
G Pmvk phosphomevalonate kinase ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 3:89,361,848...89,376,321
Ensembl chr 3:89,361,848...89,376,320 		JBrowse link
G Pogz pogo transposable element with ZNF domain ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 3:94,730,289...94,790,888
Ensembl chr 3:94,744,878...94,789,637 		JBrowse link
G Prcc papillary renal cell carcinoma (translocation-associated) ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 3:87,766,210...87,792,869
Ensembl chr 3:87,766,210...87,792,915 		JBrowse link
G Prpf3 pre-mRNA processing factor 3 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 3:95,737,436...95,763,197
Ensembl chr 3:95,737,436...95,763,197 		JBrowse link
G Prr9 proline rich 9 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 3:92,029,511...92,031,254
Ensembl chr 3:92,029,511...92,031,254 		JBrowse link
G Prune1 prune exopolyphosphatase ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 3:95,160,985...95,190,817
Ensembl chr 3:95,160,985...95,189,387 		JBrowse link
G Psmb4 proteasome (prosome, macropain) subunit, beta type 4 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 3:94,791,635...94,794,269
Ensembl chr 3:94,791,404...94,794,272 		JBrowse link
G Psmd4 proteasome (prosome, macropain) 26S subunit, non-ATPase, 4 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 3:94,939,999...94,949,880
Ensembl chr 3:94,940,005...94,949,925 		JBrowse link
G Pygo2 pygopus 2 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 3:89,337,521...89,342,438
Ensembl chr 3:89,337,521...89,342,435 		JBrowse link
G Rab13 RAB13, member RAS oncogene family ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 3:90,121,022...90,133,694
Ensembl chr 3:90,121,002...90,133,692 		JBrowse link
G Rab25 RAB25, member RAS oncogene family ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 3:88,449,335...88,455,586
Ensembl chr 3:88,449,336...88,455,607 		JBrowse link
G Rfx5 regulatory factor X, 5 (influences HLA class II expression) ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 3:94,861,355...94,868,685
Ensembl chr 3:94,861,386...94,868,872 		JBrowse link
G Rhbg Rhesus blood group-associated B glycoprotein ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 3:88,150,181...88,162,046
Ensembl chr 3:88,150,181...88,162,016 		JBrowse link
G Riiad1 regulatory subunit of type II PKA R-subunit (RIIa) domain containing 1 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 3:94,372,291...94,387,661
Ensembl chr 3:94,372,290...94,387,648 		JBrowse link
G Rit1 Ras-like without CAAX 1 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 3:88,624,154...88,638,354
Ensembl chr 3:88,624,145...88,638,356 		JBrowse link
G Rorc RAR-related orphan receptor gamma ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 3:94,280,101...94,305,583
Ensembl chr 3:94,280,101...94,305,583 		JBrowse link
G Rprd2 regulation of nuclear pre-mRNA domain containing 2 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 3:95,667,183...95,727,034
Ensembl chr 3:95,667,653...95,726,175 		JBrowse link
G Rps27 ribosomal protein S27 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 3:90,119,974...90,120,955
Ensembl chr 3:90,119,829...90,120,958 		JBrowse link
G Rptn repetin ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 3:93,301,006...93,306,749
Ensembl chr 3:93,301,006...93,306,749 		JBrowse link
G Rusc1 RUN and SH3 domain containing 1 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 3:88,991,282...89,000,670
Ensembl chr 3:88,991,288...89,000,618 		JBrowse link
G Rxfp4 relaxin family peptide receptor 4 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 3:88,559,081...88,560,489
Ensembl chr 3:88,559,205...88,560,449 		JBrowse link
G S100a1 S100 calcium binding protein A1 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 3:90,418,341...90,421,637
Ensembl chr 3:90,418,341...90,421,699 		JBrowse link
G S100a10 S100 calcium binding protein A10 (calpactin) ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 3:93,462,424...93,471,952
Ensembl chr 3:93,462,387...93,471,950 		JBrowse link
G S100a11 S100 calcium binding protein A11 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 3:93,427,803...93,433,595
Ensembl chr 3:93,427,795...93,433,594 		JBrowse link
G S100a13 S100 calcium binding protein A13 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 3:90,421,542...90,431,888
Ensembl chr 3:90,421,742...90,431,888 		JBrowse link
G S100a14 S100 calcium binding protein A14 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 3:90,434,156...90,436,144
Ensembl chr 3:90,434,163...90,436,144 		JBrowse link
G S100a16 S100 calcium binding protein A16 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 3:90,444,561...90,450,458
Ensembl chr 3:90,444,561...90,450,458 		JBrowse link
G S100a2 S100 calcium binding protein A2 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 3:90,497,554...90,498,815
Ensembl chr 3:90,467,670...90,498,838 		JBrowse link
G S100a3 S100 calcium binding protein A3 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 3:90,467,571...90,510,922
Ensembl chr 3:90,491,966...90,510,009 		JBrowse link
G S100a4 S100 calcium binding protein A4 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 3:90,511,077...90,513,349
Ensembl chr 3:90,511,078...90,513,352 		JBrowse link
G S100a5 S100 calcium binding protein A5 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 3:90,513,787...90,519,091
Ensembl chr 3:90,515,830...90,519,087 		JBrowse link
G S100a6 S100 calcium binding protein A6 (calcyclin) ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 3:90,520,491...90,531,797
Ensembl chr 3:90,520,189...90,531,488 		JBrowse link
G S100a7a S100 calcium binding protein A7A ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 3:90,561,609...90,565,437
Ensembl chr 3:90,561,324...90,565,976 		JBrowse link
G S100a8 S100 calcium binding protein A8 (calgranulin A) ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 3:90,576,378...90,577,341
Ensembl chr 3:90,576,285...90,577,342 		JBrowse link
G S100a9 S100 calcium binding protein A9 (calgranulin B) ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 3:90,599,937...90,603,028
Ensembl chr 3:90,599,939...90,603,028 		JBrowse link
G Scamp3 secretory carrier membrane protein 3 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 3:89,084,698...89,090,077
Ensembl chr 3:89,084,780...89,090,072 		JBrowse link
G Scnm1 sodium channel modifier 1 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 3:95,037,030...95,041,285
Ensembl chr 3:95,036,847...95,041,322 		JBrowse link
G Selenbp1 selenium binding protein 1 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 3:94,840,394...94,852,069
Ensembl chr 3:94,840,367...94,852,069 		JBrowse link
G Sema4a sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 3:88,343,266...88,368,500
Ensembl chr 3:88,343,266...88,368,489 		JBrowse link
G Sema6c sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6C ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 3:95,067,731...95,081,361
Ensembl chr 3:95,067,768...95,081,335 		JBrowse link
G Setdb1 SET domain, bifurcated 1 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 3:95,230,836...95,264,513
Ensembl chr 3:95,230,836...95,264,513 		JBrowse link
G Sf3b4 splicing factor 3b, subunit 4 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 3:96,079,822...96,084,880
Ensembl chr 3:96,079,648...96,084,880 		JBrowse link
G Sh2d2a SH2 domain containing 2A ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 3:87,754,070...87,763,116
Ensembl chr 3:87,754,062...87,763,029 		JBrowse link
G Shc1 src homology 2 domain-containing transforming protein C1 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 3:89,325,858...89,337,336
Ensembl chr 3:89,325,750...89,337,334 		JBrowse link
G She src homology 2 domain-containing transforming protein E ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 3:89,738,667...89,766,149
Ensembl chr 3:89,738,677...89,766,141 		JBrowse link
G Slc25a44 solute carrier family 25, member 44 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 3:88,317,801...88,334,303
Ensembl chr 3:88,317,805...88,332,446 		JBrowse link
G Slc27a3 solute carrier family 27 (fatty acid transporter), member 3 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 3:90,292,540...90,298,693
Ensembl chr 3:90,292,546...90,297,245 		JBrowse link
G Slc39a1 solute carrier family 39 (zinc transporter), member 1 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 3:90,155,512...90,160,923
Ensembl chr 3:90,155,479...90,160,919 		JBrowse link
G Slc50a1 solute carrier family 50 (sugar transporter), member 1 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 3:89,175,553...89,177,878
Ensembl chr 3:89,175,553...89,177,877 		JBrowse link
G Smcp sperm mitochondria-associated cysteine-rich protein ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 3:92,491,173...92,496,380
Ensembl chr 3:92,491,174...92,496,304 		JBrowse link
G Smg5 SMG5 nonsense mediated mRNA decay factor ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 3:88,242,050...88,269,645
Ensembl chr 3:88,243,567...88,269,645 		JBrowse link
G Snapin SNAP-associated protein ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 3:90,395,333...90,398,320
Ensembl chr 3:90,395,333...90,398,340 		JBrowse link
G Snx27 sorting nexin family member 27 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 3:94,404,849...94,490,023
Ensembl chr 3:94,404,851...94,490,023 		JBrowse link
G Sprr1a small proline-rich protein 1A ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 3:92,391,261...92,393,188
Ensembl chr 3:92,391,259...92,393,202 		JBrowse link
G Sprr1b small proline-rich protein 1B ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 3:92,344,115...92,346,124
Ensembl chr 3:92,344,116...92,346,096 		JBrowse link
G Sprr2b small proline-rich protein 2B ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 3:92,224,012...92,225,448
Ensembl chr 3:92,223,927...92,225,392 		JBrowse link
G Sprr2d small proline-rich protein 2D ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 3:92,246,447...92,248,187
Ensembl chr 3:92,246,447...92,248,180 		JBrowse link
G Sprr2e small proline-rich protein 2E ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 3:92,259,450...92,260,757
Ensembl chr 3:92,259,450...92,260,756 		JBrowse link
G Sprr2f small proline-rich protein 2F ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 3:92,272,494...92,273,754
Ensembl chr 3:92,272,494...92,273,749 		JBrowse link
G Sprr2g small proline-rich protein 2G ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 3:92,281,222...92,282,536
Ensembl chr 3:92,281,222...92,282,536 		JBrowse link
G Sprr2h small proline-rich protein 2H ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 3:92,292,992...92,294,631
Ensembl chr 3:92,292,992...92,294,631 		JBrowse link
G Sprr3 small proline-rich protein 3 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 3:92,363,809...92,366,027
Ensembl chr 3:92,363,809...92,366,027 		JBrowse link
G Sprr4 small proline-rich protein 4 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 3:92,407,570...92,407,800
Ensembl chr 3:92,407,570...92,407,800 		JBrowse link
G Ssr2 signal sequence receptor, beta ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 3:88,486,915...88,495,727
Ensembl chr 3:88,483,183...88,495,726 		JBrowse link
G Syt11 synaptotagmin XI ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 3:88,652,006...88,682,466
Ensembl chr 3:88,652,007...88,682,471 		JBrowse link
G Tars2 threonyl-tRNA synthetase 2, mitochondrial (putative) ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 3:95,647,286...95,663,677
Ensembl chr 3:95,647,288...95,667,518 		JBrowse link
G Tchh trichohyalin ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 3:93,348,071...93,356,382
Ensembl chr 3:93,349,637...93,356,384 		JBrowse link
G Tchhl1 trichohyalin-like 1 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 3:93,376,061...93,379,287
Ensembl chr 3:93,376,061...93,379,287 		JBrowse link
G Tdrkh tudor and KH domain containing protein ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 3:94,320,551...94,342,161
Ensembl chr 3:94,320,580...94,341,975 		JBrowse link
G Thbs3 thrombospondin 3 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 3:89,122,470...89,134,148
Ensembl chr 3:89,122,487...89,134,144 		JBrowse link
G Them4 thioesterase superfamily member 4 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 3:94,217,415...94,239,847
Ensembl chr 3:94,217,396...94,239,847 		JBrowse link
G Them5 thioesterase superfamily member 5 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 3:94,249,406...94,254,659
Ensembl chr 3:94,249,406...94,254,659 		JBrowse link
G Tmem79 transmembrane protein 79 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 3:88,236,351...88,241,761
Ensembl chr 3:88,235,962...88,243,455 		JBrowse link
G Tmod4 tropomodulin 4 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 3:95,030,110...95,036,520
Ensembl chr 3:95,031,787...95,036,520 		JBrowse link
G Tnfaip8l2 tumor necrosis factor, alpha-induced protein 8-like 2 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 3:95,046,832...95,051,581
Ensembl chr 3:95,046,832...95,049,671 		JBrowse link
G Tpm3 tropomyosin 3, gamma ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 3:89,979,958...90,008,209
Ensembl chr 3:89,979,956...90,008,209 		JBrowse link
G Trim46 tripartite motif-containing 46 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 3:89,141,476...89,153,655
Ensembl chr 3:89,141,484...89,153,616 		JBrowse link
G Tsacc TSSK6 activating co-chaperone ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 3:88,190,059...88,204,306
Ensembl chr 3:88,190,064...88,204,306 		JBrowse link
G Ttc24 tetratricopeptide repeat domain 24 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 3:87,976,717...87,985,611
Ensembl chr 3:87,976,717...87,985,611 		JBrowse link
G Tuft1 tuftelin 1 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 3:94,520,060...94,566,179
Ensembl chr 3:94,520,064...94,566,179 		JBrowse link
G Ubap2l ubiquitin-associated protein 2-like ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 3:89,906,896...89,959,867
Ensembl chr 3:89,907,447...89,959,935 		JBrowse link
G Ube2q1 ubiquitin-conjugating enzyme E2Q family member 1 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 3:89,680,905...89,691,304
Ensembl chr 3:89,680,923...89,691,307 		JBrowse link
G Ubqln4 ubiquilin 4 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 3:88,460,984...88,477,032
Ensembl chr 3:88,461,065...88,477,032 		JBrowse link
G Vps45 vacuolar protein sorting 45 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 chr 3:95,907,144...95,969,715
Ensembl chr 3:95,907,144...95,965,778 		JBrowse link
G Vps72 vacuolar protein sorting 72 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 3:95,018,353...95,030,362
Ensembl chr 3:95,018,333...95,030,362 		JBrowse link
G Zbtb7b zinc finger and BTB domain containing 7B ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 3:89,284,953...89,300,976
Ensembl chr 3:89,284,951...89,302,083 		JBrowse link
G Zfp687 zinc finger protein 687 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 3:94,901,726...94,923,259
Ensembl chr 3:94,913,901...94,922,759 		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, SCAR/WAVE actin-nucleating complex subunit ISO ClinVar Annotator: match by term: Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency ClinVar PMID:28492532 NCBI chr 6:113,581,733...113,593,912
Ensembl chr 6:113,581,733...113,593,912 		JBrowse link
G Cidec cell death-inducing DFFA-like effector c ISO ClinVar Annotator: match by term: Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency ClinVar PMID:28492532 NCBI chr 6:113,401,595...113,412,721
Ensembl chr 6:113,401,595...113,412,721 		JBrowse link
G Creld1 cysteine-rich with EGF-like domains 1 ISO ClinVar Annotator: match by term: Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency ClinVar PMID:28492532 NCBI chr 6:113,460,317...113,470,304
Ensembl chr 6:113,460,258...113,470,304 		JBrowse link
G Emc3 ER membrane protein complex subunit 3 ISO ClinVar Annotator: match by term: Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency ClinVar PMID:28492532 NCBI chr 6:113,491,848...113,508,599
Ensembl chr 6:113,491,835...113,508,613 		JBrowse link
G Fancd2 Fanconi anemia, complementation group D2 ISO ClinVar Annotator: match by term: Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency ClinVar PMID:28492532 NCBI chr 6:113,508,622...113,573,981
Ensembl chr 6:113,508,643...113,573,978 		JBrowse link
G Fancd2os Fancd2 opposite strand ISO ClinVar Annotator: match by term: Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency ClinVar PMID:28492532 NCBI chr 6:113,573,722...113,577,735
Ensembl chr 6:113,573,722...113,577,676 		JBrowse link
G Il17rc interleukin 17 receptor C ISO ClinVar Annotator: match by term: Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency ClinVar PMID:28492532 NCBI chr 6:113,448,416...113,460,124
Ensembl chr 6:113,448,388...113,460,101 		JBrowse link
G Il17re interleukin 17 receptor E ISO ClinVar Annotator: match by term: Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency ClinVar PMID:28492532 NCBI chr 6:113,435,659...113,447,719
Ensembl chr 6:113,435,445...113,447,719 		JBrowse link
G Jagn1 jagunal homolog 1 ISO ClinVar Annotator: match by term: Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency
DNA:missense mutations: :multiple
DNA:missense mutation:exon:p.H44Y (human)		 OMIM
ClinVar
RGD		 PMID:9536098 PMID:17576681 PMID:25129144 PMID:25741868 PMID:25851723 More... RGD:11531099, RGD:11531098 NCBI chr 6:113,419,478...113,425,190
Ensembl chr 6:113,419,530...113,425,190 		JBrowse link
G Prrt3 proline-rich transmembrane protein 3 ISO ClinVar Annotator: match by term: Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency ClinVar PMID:28492532 NCBI chr 6:113,470,599...113,479,071
Ensembl chr 6:113,470,600...113,478,892 		JBrowse link
G Vhl von Hippel-Lindau tumor suppressor ISO ClinVar Annotator: match by term: Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency ClinVar PMID:28492532 NCBI chr 6:113,600,955...113,608,595
Ensembl chr 6:113,600,920...113,608,594 		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 (granulocyte) 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 chr 4:125,917,241...125,938,768
Ensembl chr 4:125,918,343...125,938,233 		JBrowse link
severe congenital neutropenia 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Srp54a signal recognition particle 54A ISO ClinVar Annotator: match by term: Neutropenia, severe congenital, 8, autosomal dominant OMIM
ClinVar		 PMID:28492532 PMID:28972538 PMID:29914977 NCBI chr12:55,127,318...55,162,152
Ensembl chr12:55,127,047...55,162,152 		JBrowse link
Severe Congenital Neutropenia 9, Autosomal Dominant term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Clpb ClpB caseinolytic peptidase B ISO ClinVar Annotator: match by term: Neutropenia, severe congenital, 9, autosomal dominant OMIM
ClinVar		 PMID:28492532 PMID:34115842 NCBI chr 7:101,312,958...101,444,667
Ensembl chr 7:101,312,840...101,444,713 		JBrowse link
WHIM syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cxcr4 chemokine (C-X-C motif) receptor 4 ISO
IAGP		 ClinVar Annotator: match by term: WHIM syndrome 1 | ClinVar Annotator: match by term: Warts, hypogammaglobulinemia, infections, and myelokathexis
OMIM:193670
CTD Direct Evidence: marker/mechanism
DNA:frame shift, nonsense mutations:cds:1016_1017delCT,p.R334X,E343X(human)		 OMIM
ClinVar
MouseDO
CTD
RGD		 PMID:12692554 PMID:15026312 PMID:15536153 PMID:16275383 PMID:16899028 More... RGD:734860 NCBI chr 1:128,515,936...128,520,036
Ensembl chr 1:128,515,936...128,520,030 		JBrowse link
G Dars aspartyl-tRNA synthetase ISO ClinVar Annotator: match by term: Warts, hypogammaglobulinemia, infections, and myelokathexis ClinVar PMID:28492532 NCBI chr 1:128,291,444...128,345,153
Ensembl chr 1:128,291,444...128,345,105 		JBrowse link
G Lct lactase ISO ClinVar Annotator: match by term: Warts, hypogammaglobulinemia, infections, and myelokathexis ClinVar PMID:28492532 NCBI chr 1:128,212,493...128,256,055
Ensembl chr 1:128,212,493...128,256,055 		JBrowse link
G Mcm6 minichromosome maintenance complex component 6 ISO ClinVar Annotator: match by term: Warts, hypogammaglobulinemia, infections, and myelokathexis ClinVar PMID:28492532 NCBI chr 1:128,259,312...128,287,442
Ensembl chr 1:128,259,327...128,287,401 		JBrowse link
G Mir128-1 microRNA 128-1 ISO ClinVar Annotator: match by term: Warts, hypogammaglobulinemia, infections, and myelokathexis ClinVar PMID:28492532 NCBI chr 1:128,130,098...128,130,167
Ensembl chr 1:128,130,098...128,130,167 		JBrowse link
G R3hdm1 R3H domain containing 1 ISO ClinVar Annotator: match by term: Warts, hypogammaglobulinemia, infections, and myelokathexis ClinVar PMID:28492532