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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 ABCB1 ATP binding cassette subfamily B member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16950614 PMID:25007187 NCBI chr14:13,644,891...13,852,829
Ensembl chr14:13,542,647...13,742,727 		JBrowse link
G ANKRD11 ankyrin repeat domain containing 11 ISO ClinVar Annotator: match by term: Neutropenia ClinVar NCBI chr 5:64,047,188...64,229,582
Ensembl chr 5:64,047,175...64,229,077 		JBrowse link
G AP3B1 adaptor related protein complex 3 subunit beta 1 ISO RGD PMID:12125811 RGD:1578409 NCBI chr 3:28,481,974...28,748,095
Ensembl chr 3:28,481,038...28,751,258 		JBrowse link
G ATP6AP1 ATPase H+ transporting accessory protein 1 ISO ClinVar Annotator: match by term: Neutropenia ClinVar PMID:28492532 NCBI chr  X:122,133,314...122,140,949
Ensembl chr  X:122,133,325...122,140,447 		JBrowse link
G C5 complement C5 ISO RGD PMID:10188960 PMID:10516626 RGD:1600665 RGD:5130180 NCBI chr11:73,953,727...74,029,919
Ensembl chr11:73,953,727...74,029,851 		JBrowse link
G C5AR1 complement C5a receptor 1 ISO RGD PMID:10516626 RGD:5130180 NCBI chr 1:108,659,637...108,704,217
Ensembl chr 1:108,659,637...108,675,401 		JBrowse link
G C6H16orf92 chromosome 6 C16orf92 homolog ISO ClinVar Annotator: match by term: Neutropenia ClinVar NCBI chr 6:18,051,019...18,053,729
Ensembl chr 6:18,052,621...18,054,126 		JBrowse link
G CCNQ cyclin Q ISO ClinVar Annotator: match by term: Neutropenia ClinVar PMID:28492532 NCBI chr  X:121,409,169...121,418,666
Ensembl chr  X:121,409,625...121,418,395 		JBrowse link
G CFB complement factor B ISO ClinVar Annotator: match by term: Neutropenia ClinVar NCBI chr12:1,400,143...1,406,267 JBrowse link
G CHD1L chromodomain helicase DNA binding protein 1 like ISO ClinVar Annotator: match by term: Neutropenia ClinVar NCBI chr17:57,725,823...57,806,065
Ensembl chr17:57,725,640...57,806,048 		JBrowse link
G CLPB ClpB family mitochondrial disaggregase ISO ClinVar Annotator: match by term: Neutropenia ClinVar PMID:25597510 PMID:25597511 PMID:25741868 PMID:27290639 PMID:27891836 More... NCBI chr21:25,710,634...25,855,418
Ensembl chr21:25,710,723...25,852,857 		JBrowse link
G CSF2 colony stimulating factor 2 treatment ISO CTD Direct Evidence: therapeutic RGD
CTD		 PMID:7875148 PMID:10832225 PMID:11264156 RGD:10449510 NCBI chr11:20,342,880...20,346,959
Ensembl chr11:20,344,648...20,346,959 		JBrowse link
G CSF3 colony stimulating factor 3 ISO CTD Direct Evidence: marker/mechanism|therapeutic RGD
CTD		 PMID:7524159 PMID:7529132 PMID:7543699 PMID:7688884 PMID:9740541 More... RGD:11039039 NCBI chr 9:22,529,643...22,532,326
Ensembl chr 9:22,530,698...22,533,108 		JBrowse link
G DPYD dihydropyrimidine dehydrogenase ISO CTD Direct Evidence: marker/mechanism CTD PMID:12562666 NCBI chr 6:51,789,786...52,564,802
Ensembl chr 6:51,814,573...52,580,923 		JBrowse link
G ELANE elastase, neutrophil expressed ISO ClinVar Annotator: match by term: Neutropenia ClinVar PMID:9536098 PMID:10581030 PMID:17576681 PMID:20049848 PMID:23463630 More... NCBI chr20:57,789,044...57,790,932
Ensembl chr20:57,788,062...57,790,932 		JBrowse link
G EPHX1 epoxide hydrolase 1 ISO ClinVar Annotator: match by term: Neutropenia ClinVar NCBI chr 7:38,964,319...39,004,902
Ensembl chr 7:38,964,338...38,999,238 		JBrowse link
G FCGR2B Fc fragment of IgG receptor IIb ISO CTD Direct Evidence: marker/mechanism CTD PMID:10848805 NCBI chr38:20,980,777...20,994,403 JBrowse link
G GFI1 growth factor independent 1 transcriptional repressor ISO DNA:mutation:exon: RGD PMID:11810106 PMID:22684987 RGD:11040449 RGD:11040456 NCBI chr 6:56,473,032...56,484,422
Ensembl chr 6:56,256,305...56,484,422 		JBrowse link
G HAX1 HCLS1 associated protein X-1 ISO ClinVar Annotator: match by term: Neutropenia ClinVar PMID:28492532 PMID:32581362 NCBI chr 7:42,969,711...42,972,783
Ensembl chr 7:42,969,713...42,972,710 		JBrowse link
G HOXD13 homeobox D13 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27725143 NCBI chr36:19,901,184...19,903,837 JBrowse link
G IL1B interleukin 1 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:1884014 NCBI chr17:37,019,329...37,033,388
Ensembl chr17:37,019,329...37,024,458 		JBrowse link
G JAGN1 jagunal homolog 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25129144 PMID:25129145 NCBI chr20:8,372,981...8,376,089
Ensembl chr20:8,373,316...8,376,085 		JBrowse link
G KIF11 kinesin family member 11 ISO ClinVar Annotator: match by term: Neutropenia ClinVar PMID:25741868 PMID:28492532 NCBI chr28:6,982,296...7,034,380
Ensembl chr28:6,982,146...7,033,104 		JBrowse link
G LIMS2 LIM zinc finger domain containing 2 ISO ClinVar Annotator: match by term: Neutropenia ClinVar NCBI chr19:22,932,251...22,978,437
Ensembl chr19:22,931,779...22,982,765 		JBrowse link
G LOC100682826 melanoma-associated antigen 10-like ISO ClinVar Annotator: match by term: Neutropenia ClinVar NCBI chr  X:110,687,192...110,694,493 JBrowse link
G MKI67 marker of proliferation Ki-67 ISO protein:increased expression:blood, T cell RGD PMID:22092365 RGD:6483522 NCBI chr28:36,920,679...36,939,336
Ensembl chr28:36,913,023...36,939,486 		JBrowse link
G MTHFR methylenetetrahydrofolate reductase ISO CTD Direct Evidence: marker/mechanism CTD PMID:19391036 NCBI chr 2:84,445,526...84,457,435
Ensembl chr 2:84,380,919...84,536,818 		JBrowse link
G MUC16 mucin 16, cell surface associated ISO ClinVar Annotator: match by term: Neutropenia ClinVar NCBI chr20:51,790,036...51,876,801 JBrowse link
G NUP98 nucleoporin 98 and 96 precursor ISO CTD Direct Evidence: marker/mechanism CTD PMID:27725143 NCBI chr21:26,231,585...26,348,019
Ensembl chr21:26,220,963...26,336,020 		JBrowse link
G PKP3 plakophilin 3 ISO ClinVar Annotator: match by term: Neutropenia ClinVar NCBI chr18:25,540,073...25,547,667
Ensembl chr18:25,540,073...25,547,667 		JBrowse link
G POLR3C RNA polymerase III subunit C ISO ClinVar Annotator: match by term: Neutropenia ClinVar NCBI chr17:58,634,299...58,646,056
Ensembl chr17:58,636,244...58,645,838 		JBrowse link
G PTAFR platelet activating factor receptor treatment ISO RGD PMID:3011900 RGD:10043179 NCBI chr 2:72,225,386...72,256,353
Ensembl chr 2:72,225,386...72,256,352 		JBrowse link
G RNF128 ring finger protein 128 ISO ClinVar Annotator: match by term: Neutropenia ClinVar PMID:25741868 NCBI chr  X:80,241,285...80,356,094
Ensembl chr  X:80,241,522...80,356,110 		JBrowse link
G RPS14 ribosomal protein S14 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27725143 NCBI chr 4:58,661,335...58,667,968
Ensembl chr 4:58,661,152...58,667,964 		JBrowse link
G SLC34A1 solute carrier family 34 member 1 ISO ClinVar Annotator: match by term: Neutropenia ClinVar PMID:28492532 NCBI chr 4:35,961,394...35,973,733
Ensembl chr 4:35,961,958...35,973,657 		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 chr 9:11,787,676...11,823,900
Ensembl chr 9:11,788,485...11,808,118 		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 chr10:641,543...660,882
Ensembl chr10:642,718...658,546 		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 chr 9:20,539,660...20,614,631
Ensembl chr 9:20,539,697...20,612,672 		JBrowse link
G TLE2 TLE family member 2, transcriptional corepressor ISO ClinVar Annotator: match by term: Neutropenia ClinVar NCBI chr20:56,138,654...56,157,625
Ensembl chr20:56,137,746...56,157,583 		JBrowse link
G TMEM63A transmembrane protein 63A ISO ClinVar Annotator: match by term: Neutropenia ClinVar NCBI chr 7:38,936,989...38,964,349
Ensembl chr 7:38,937,041...38,964,345 		JBrowse link
G TNF tumor necrosis factor ISO RGD PMID:15986200 RGD:1580321 NCBI chr12:1,074,561...1,076,425
Ensembl chr12:1,074,552...1,076,425 		JBrowse link
G TPMT thiopurine S-methyltransferase ISO CTD Direct Evidence: marker/mechanism CTD PMID:18662289 NCBI chr35:16,928,991...16,953,891
Ensembl chr35:16,929,240...16,953,229 		JBrowse link
G USP3 ubiquitin specific peptidase 3 ISO ClinVar Annotator: match by term: Neutropenia ClinVar NCBI chr30:28,073,484...28,184,121
Ensembl chr30:28,072,655...28,181,749 		JBrowse link
G VPS16 VPS16 core subunit of CORVET and HOPS complexes ISO ClinVar Annotator: match by term: Neutropenia ClinVar NCBI chr24:18,401,440...18,424,605
Ensembl chr24:18,399,572...18,424,510 		JBrowse link
G XDH xanthine dehydrogenase ISO ClinVar Annotator: match by term: Neutropenia ClinVar PMID:25741868 PMID:28492532 PMID:30755392 NCBI chr17:24,900,708...24,960,748
Ensembl chr17:24,901,447...24,971,935 		JBrowse link
G ZC3H3 zinc finger CCCH-type containing 3 ISO ClinVar Annotator: match by term: Neutropenia ClinVar NCBI chr13:37,128,915...37,214,643
Ensembl chr13:37,130,999...37,214,997 		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 family mitochondrial disaggregase ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIA OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:32313153 PMID:34140661 NCBI chr21:25,710,634...25,855,418
Ensembl chr21:25,710,723...25,852,857 		JBrowse link
3-methylglutaconic aciduria type 7b term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ANAPC15 anaphase promoting complex subunit 15 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr21:25,971,680...25,975,556
Ensembl chr21:25,972,458...25,975,558 		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 chr21:25,468,653...25,531,644
Ensembl chr21:25,443,386...25,531,165 		JBrowse link
G ARHGEF17 Rho guanine nucleotide exchange factor 17 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr21:24,859,789...24,919,733
Ensembl chr21:24,862,295...24,919,667 		JBrowse link
G ARRB1 arrestin beta 1 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr21:23,261,020...23,304,448
Ensembl chr21:23,235,711...23,297,786 		JBrowse link
G ATG16L2 autophagy related 16 like 2 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr21:25,404,667...25,433,456
Ensembl chr21:25,405,694...25,419,896 		JBrowse link
G C2CD3 C2 domain containing 3 centriole elongation regulator ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr21:24,127,390...24,272,473
Ensembl chr21:24,127,598...24,272,657 		JBrowse link
G CBD108 beta-defensin 108B ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr16:53,938,211...53,944,168 JBrowse link
G CHCHD8 coiled-coil-helix-coiled-coil-helix domain containing 8 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr21:24,379,195...24,417,941
Ensembl chr21:24,381,614...24,381,868 		JBrowse link
G CHRDL2 chordin like 2 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr21:23,670,257...23,702,788
Ensembl chr21:23,670,238...23,702,788 		JBrowse link
G CLPB ClpB family mitochondrial disaggregase 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 chr21:25,710,634...25,855,418
Ensembl chr21:25,710,723...25,852,857 		JBrowse link
G DHCR7 7-dehydrocholesterol reductase ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr18:47,257,750...47,277,436
Ensembl chr18:47,261,730...47,274,236 		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 chr21:24,314,242...24,326,605
Ensembl chr21:24,314,248...24,338,253 		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 chr21:24,644,700...24,832,307
Ensembl chr21:24,768,108...24,827,784 		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 chr21:25,082,864...25,399,754
Ensembl chr21:25,072,161...25,397,717 		JBrowse link
G GDPD5 glycerophosphodiester phosphodiesterase domain containing 5 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr21:23,070,875...23,157,078
Ensembl chr21:23,070,964...23,156,532 		JBrowse link
G IL18BP interleukin 18 binding protein ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr21:26,076,515...26,080,741
Ensembl chr21:26,076,700...26,078,612 		JBrowse link
G INPPL1 inositol polyphosphate phosphatase like 1 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr21:25,900,308...25,914,527
Ensembl chr21:25,900,900...25,915,577 		JBrowse link
G KCNE3 potassium voltage-gated channel subfamily E regulatory subunit 3 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr21:23,860,727...23,872,194
Ensembl chr21:23,871,648...23,871,947 		JBrowse link
G KLHL35 kelch like family member 35 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr21:23,159,703...23,170,899
Ensembl chr21:23,162,905...23,170,532 		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 chr21:25,981,170...25,986,942
Ensembl chr21:25,981,254...25,996,432 		JBrowse link
G LIPT2 lipoyl(octanoyl) transferase 2 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr21:23,845,253...23,846,977
Ensembl chr21:23,845,268...23,846,537 		JBrowse link
G LOC106560171 transmembrane O-methyltransferase ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr21:25,975,547...25,981,097 JBrowse link
G LOC119865100 small nucleolar RNA SNORD15 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532
G LOC476816 folate receptor beta ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr21:25,917,476...25,923,267 JBrowse link
G LOC609612 folate receptor alpha ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr21:25,944,350...25,951,010 JBrowse link
G MIR139 microRNA mir-139 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr21:25,597,025...25,597,081
Ensembl chr21:25,597,024...25,597,080 		JBrowse link
G MIR326 microRNA mir-326 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr21:23,240,463...23,240,553
Ensembl chr21:23,240,463...23,240,553 		JBrowse link
G MRPL48 mitochondrial ribosomal protein L48 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr21:24,391,538...24,456,860 JBrowse link
G NADSYN1 NAD synthetase 1 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr18:47,216,547...47,254,582
Ensembl chr18:47,216,577...47,254,514 		JBrowse link
G NEU3 neuraminidase 3 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr21:23,456,424...23,484,872 JBrowse link
G NUMA1 nuclear mitotic apparatus protein 1 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr21:26,000,579...26,076,281
Ensembl chr21:26,037,095...26,075,549 		JBrowse link
G OR2AT2 olfactory receptor family 2 subfamily AT member 2 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr21:23,435,792...23,437,070
Ensembl chr21:23,436,132...23,437,070 		JBrowse link
G P2RY2 purinergic receptor P2Y2 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr21:24,987,568...25,009,754
Ensembl chr21:24,992,848...24,996,059 		JBrowse link
G P2RY6 pyrimidinergic receptor P2Y6 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr21:24,929,502...24,966,857
Ensembl chr21:24,929,771...24,930,757 		JBrowse link
G P4HA3 prolyl 4-hydroxylase subunit alpha 3 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr21:23,991,474...24,033,086
Ensembl chr21:23,991,469...24,032,642 		JBrowse link
G PAAF1 proteasomal ATPase associated factor 1 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr21:24,337,226...24,379,203
Ensembl chr21:24,338,333...24,379,074 		JBrowse link
G PDE2A phosphodiesterase 2A ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr21:25,542,030...25,635,661
Ensembl chr21:25,542,268...25,635,660 		JBrowse link
G PGM2L1 phosphoglucomutase 2 like 1 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr21:23,918,588...23,973,607
Ensembl chr21:23,918,918...23,968,306 		JBrowse link
G PHOX2A paired like homeobox 2A ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr21:25,895,628...25,900,338
Ensembl chr21:25,892,321...25,900,351 		JBrowse link
G PLEKHB1 pleckstrin homology domain containing B1 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr21:24,592,081...24,608,097
Ensembl chr21:24,593,030...24,608,035 		JBrowse link
G POLD3 DNA polymerase delta 3, accessory subunit ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr21:23,753,918...23,805,306
Ensembl chr21:23,754,278...23,802,104 		JBrowse link
G PPME1 protein phosphatase methylesterase 1 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr21:24,041,074...24,127,178
Ensembl chr21:24,042,240...24,127,081 		JBrowse link
G RAB6A RAB6A, member RAS oncogene family ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr21:24,489,653...24,578,212
Ensembl chr21:24,492,359...24,576,524 		JBrowse link
G RELT RELT TNF receptor ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr21:24,835,792...24,854,739
Ensembl chr21:24,836,858...24,854,023 		JBrowse link
G RNF121 ring finger protein 121 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr21:26,080,885...26,163,570
Ensembl chr21:26,079,692...26,163,493 		JBrowse link
G RNF169 ring finger protein 169 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr21:23,574,478...23,655,305
Ensembl chr21:23,579,370...23,655,290 		JBrowse link
G RPS3 ribosomal protein S3 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr21:23,180,515...23,187,034
Ensembl chr21:23,180,515...23,187,034 		JBrowse link
G SERPINH1 serpin family H member 1 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr21:23,032,761...23,041,649
Ensembl chr21:23,032,767...23,041,625 		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 chr21:23,347,593...23,393,480
Ensembl chr21:23,346,070...23,473,831 		JBrowse link
G SPCS2 signal peptidase complex subunit 2 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr21:23,485,367...23,510,249
Ensembl chr21:23,484,965...23,510,249 		JBrowse link
G STARD10 StAR related lipid transfer domain containing 10 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr21:25,439,189...25,466,614
Ensembl chr21:25,433,208...25,466,583 		JBrowse link
G TPBGL trophoblast glycoprotein like ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr21:23,312,723...23,317,887
Ensembl chr21:23,314,357...23,315,535 		JBrowse link
G UCP2 uncoupling protein 2 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr21:24,304,410...24,311,392
Ensembl chr21:24,304,457...24,311,128 		JBrowse link
G UCP3 uncoupling protein 3 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr21:24,272,522...24,290,304
Ensembl chr21:24,277,896...24,288,639 		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 chr21:23,510,403...23,573,862
Ensembl chr21:23,516,686...23,570,535 		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 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 chr 9:11,497,182...11,516,362
Ensembl chr 9:11,497,182...11,516,358 		JBrowse link
G GSTP1 glutathione S-transferase pi 1 susceptibility ISO DNA:polymorphism: : rs1695(human) RGD PMID:25008867 RGD:10755412 NCBI chr18:49,905,161...49,908,182
Ensembl chr18:49,905,161...49,908,182 		JBrowse link
G ITPA inosine triphosphatase ISO associated with Precursor Cell Lymphoblastic Leukemia-Lymphoma;DNA:SNP: :rs41320251 (human) RGD PMID:18685564 RGD:10766478 NCBI chr24:18,070,980...18,081,815
Ensembl chr24:18,064,983...18,082,163 		JBrowse link
G LOC478984 low affinity immunoglobulin gamma Fc region receptor III treatment ISO associated with Lymphoma, Large B-Cell, Diffuse;DNA:SNP: :rs396991 (human) RGD PMID:27282998 RGD:11344967 NCBI chr38:21,054,870...21,060,948 JBrowse link
G MBL1 mannose binding lectin 1 susceptibility
disease progression		 ISO associated with Neoplasms;DNA:SNP,haplotyep:promoter:
associated with leukemia;
associated with Precursor B-Cell Lymphoblastic Leukemia-Lymphoma;DNA:polymorphisms:exon:		 RGD PMID:20930093 PMID:24453114 PMID:24819208 RGD:11530041 RGD:11530043 RGD:11530056 NCBI chr 4:29,419,886...29,424,377 JBrowse link
G MDM2 MDM2 proto-oncogene susceptibility ISO associated with Breast Neoplasms;DNA:SNP:cds:309T>G(rs2279744)(human) RGD PMID:21706156 RGD:11073725 NCBI chr10:10,936,288...10,963,118
Ensembl chr10:10,893,719...10,962,596 		JBrowse link
G TP53 tumor protein p53 susceptibility ISO associated with Breast Neoplasms;DNA:SNP:cds: p.R72P(rs1042522)(human) RGD PMID:21706156 RGD:11073725 NCBI chr 5:32,561,406...32,565,149
Ensembl chr 5:32,560,598...32,574,109 		JBrowse link
cyclic hematopoiesis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCA7 ATP binding cassette subfamily A member 7 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr20:57,668,371...57,684,111
Ensembl chr20:57,667,706...57,677,342 		JBrowse link
G ABHD17A abhydrolase domain containing 17A, depalmitoylase ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr20:57,083,381...57,092,021
Ensembl chr20:57,086,800...57,092,001 		JBrowse link
G ADAMTSL5 ADAMTS like 5 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr20:57,351,242...57,357,934
Ensembl chr20:57,351,575...57,357,520 		JBrowse link
G ADAT3 adenosine deaminase tRNA specific 3 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr20:57,062,706...57,065,492 JBrowse link
G AP3B1 adaptor related protein complex 3 subunit beta 1 IAGP Neutropenia, cyclic OMIA PMID:47249 PMID:127610 PMID:173440 PMID:336117 PMID:347941 More... NCBI chr 3:28,481,974...28,748,095
Ensembl chr 3:28,481,038...28,751,258 		JBrowse link
G AP3D1 adaptor related protein complex 3 subunit delta 1 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr20:56,893,479...56,932,460
Ensembl chr20:56,893,535...56,931,830 		JBrowse link
G APC2 APC regulator of WNT signaling pathway 2 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr20:57,380,472...57,395,249
Ensembl chr20:57,380,460...57,395,226 		JBrowse link
G ARHGAP45 Rho GTPase activating protein 45 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr20:57,656,693...57,668,324
Ensembl chr20:57,657,154...57,787,713 		JBrowse link
G ARID3A AT-rich interaction domain 3A ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr20:57,724,747...57,746,637
Ensembl chr20:57,722,917...57,746,622 		JBrowse link
G ATP5F1D ATP synthase F1 subunit delta ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr20:57,547,575...57,550,110
Ensembl chr20:57,547,371...57,549,722 		JBrowse link
G ATP8B3 ATPase phospholipid transporting 8B3 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr20:57,144,740...57,160,402
Ensembl chr20:57,148,281...57,160,347 		JBrowse link
G BTBD2 BTB domain containing 2 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr20:56,999,749...57,008,283
Ensembl chr20:57,000,016...57,007,467 		JBrowse link
G C20H19orf25 chromosome 20 C19orf25 homolog ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr20:57,376,356...57,380,511
Ensembl chr20:57,377,059...57,379,453 		JBrowse link
G CBARP CACN subunit beta associated regulatory protein ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr20:57,554,162...57,559,126
Ensembl chr20:57,554,032...57,559,612 		JBrowse link
G CFD complement factor D ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr20:57,785,297...57,787,773
Ensembl chr20:57,657,154...57,787,713 		JBrowse link
G CIRBP cold inducible RNA binding protein ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr20:57,521,609...57,526,526
Ensembl chr20:57,519,119...57,526,435 		JBrowse link
G CNN2 calponin 2 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr20:57,684,959...57,691,621
Ensembl chr20:57,637,796...57,691,896 		JBrowse link
G CSNK1G2 casein kinase 1 gamma 2 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr20:57,015,019...57,042,269
Ensembl chr20:57,015,614...57,040,694 		JBrowse link
G DAZAP1 DAZ associated protein 1 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr20:57,411,249...57,435,852
Ensembl chr20:57,411,825...57,435,799 		JBrowse link
G EFNA2 ephrin A2 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532
G ELANE elastase, neutrophil expressed ISO ClinVar Annotator: match by term: Cyclical neutropenia OMIM
ClinVar		 PMID:3229910 PMID:9536098 PMID:10581030 PMID:11001877 PMID:11675333 More... NCBI chr20:57,789,044...57,790,932
Ensembl chr20:57,788,062...57,790,932 		JBrowse link
G FAM174C family with sequence similarity 174 member C ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532
G FGF22 fibroblast growth factor 22 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr20:57,899,300...57,903,064
Ensembl chr20:57,900,416...57,903,061 		JBrowse link
G FSTL3 follistatin like 3 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr20:57,878,623...57,884,240
Ensembl chr20:57,879,722...57,884,172 		JBrowse link
G GAMT guanidinoacetate N-methyltransferase ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr20:57,440,698...57,442,588 JBrowse link
G GPX4 glutathione peroxidase 4 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532
G GRIN3B glutamate ionotropic receptor NMDA type subunit 3B ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr20:57,703,569...57,710,119 JBrowse link
G HCN2 hyperpolarization activated cyclic nucleotide gated potassium and sodium channel 2 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr20:57,920,089...57,941,057
Ensembl chr20:57,920,740...57,938,374 		JBrowse link
G IZUMO4 IZUMO family member 4 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr20:56,933,644...56,936,171
Ensembl chr20:56,933,646...56,936,163 		JBrowse link
G KISS1R KISS1 receptor ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr20:57,756,046...57,758,940
Ensembl chr20:57,756,197...57,758,940 		JBrowse link
G KLF16 KLF transcription factor 16 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr20:57,102,968...57,110,795 JBrowse link
G MBD3 methyl-CpG binding domain protein 3 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr20:57,296,713...57,312,988
Ensembl chr20:57,296,713...57,307,110 		JBrowse link
G MED16 mediator complex subunit 16 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr20:57,771,543...57,782,839
Ensembl chr20:57,777,827...57,782,819 		JBrowse link
G MEX3D mex-3 RNA binding family member D ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr20:57,317,232...57,323,854 JBrowse link
G MIDN midnolin ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr20:57,535,165...57,543,014
Ensembl chr20:57,536,880...57,542,977 		JBrowse link
G MISP mitotic spindle positioning ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr20:57,839,423...57,847,013
Ensembl chr20:57,838,731...57,843,219 		JBrowse link
G MKNK2 MAPK interacting serine/threonine kinase 2 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr20:56,966,656...56,978,414
Ensembl chr20:56,965,800...56,974,073 		JBrowse link
G MOB3A MOB kinase activator 3A ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr20:56,940,743...56,951,906
Ensembl chr20:56,940,618...56,950,841 		JBrowse link
G NDUFS7 NADH:ubiquinone oxidoreductase core subunit S7 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr20:57,443,264...57,448,892
Ensembl chr20:57,443,258...57,448,825 		JBrowse link
G ONECUT3 one cut homeobox 3 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr20:57,161,598...57,181,840 JBrowse link
G PALM paralemmin ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr20:57,847,631...57,868,790
Ensembl chr20:57,849,081...57,868,975 		JBrowse link
G PCSK4 proprotein convertase subtilisin/kexin type 4 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr20:57,370,035...57,376,207
Ensembl chr20:57,369,328...57,375,590 		JBrowse link
G PLK5 polo like kinase 5 (inactive) ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr20:57,337,808...57,343,993
Ensembl chr20:57,337,874...57,343,945 		JBrowse link
G PLPPR3 phospholipid phosphatase related 3 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr20:57,800,998...57,806,233
Ensembl chr20:57,800,740...57,806,246 		JBrowse link
G POLR2E RNA polymerase II, I and III subunit E ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr20:57,649,836...57,653,661
Ensembl chr20:57,649,868...57,654,199 		JBrowse link
G POLRMT RNA polymerase mitochondrial ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr20:57,908,327...57,920,016
Ensembl chr20:57,908,351...57,920,027 		JBrowse link
G PRSS57 serine protease 57 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr20:57,873,891...57,877,890
Ensembl chr20:57,874,770...57,877,888 		JBrowse link
G PTBP1 polypyrimidine tract binding protein 1 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr20:57,806,450...57,818,435
Ensembl chr20:57,807,826...57,818,359 		JBrowse link
G PWWP3A PWWP domain containing 3A, DNA repair factor ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr20:57,452,289...57,469,207
Ensembl chr20:57,452,300...57,468,692 		JBrowse link
G R3HDM4 R3H domain containing 4 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr20:57,761,100...57,769,656
Ensembl chr20:57,760,909...57,769,105 		JBrowse link
G REEP6 receptor accessory protein 6 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr20:57,364,419...57,370,069 JBrowse link
G REXO1 RNA exonuclease 1 homolog ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr20:57,117,756...57,141,628
Ensembl chr20:57,130,460...57,140,889 		JBrowse link
G RNF126 ring finger protein 126 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr20:57,890,333...57,899,364
Ensembl chr20:57,891,413...57,898,863 		JBrowse link
G RPS15 ribosomal protein S15 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr20:57,406,544...57,407,015
Ensembl chr20:57,406,545...57,413,421 		JBrowse link
G SBNO2 strawberry notch homolog 2 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr20:57,592,901...57,640,047
Ensembl chr20:57,267,724...57,640,750 		JBrowse link
G SCAMP4 secretory carrier membrane protein 4 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr20:57,047,022...57,061,274
Ensembl chr20:57,048,026...57,063,245 		JBrowse link
G STK11 serine/threonine kinase 11 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr20:57,558,966...57,579,163
Ensembl chr20:57,559,424...57,579,118 		JBrowse link
G TCF3 transcription factor 3 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr20:57,255,091...57,284,223
Ensembl chr20:57,254,384...57,283,981 		JBrowse link
G TMEM259 transmembrane protein 259 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr20:57,695,004...57,703,650
Ensembl chr20:57,695,002...57,749,891 		JBrowse link
G UQCR11 ubiquinol-cytochrome c reductase, complex III subunit XI ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr20:57,289,122...57,291,334 JBrowse link
G WDR18 WD repeat domain 18 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr20:57,712,854...57,717,988
Ensembl chr20:57,712,740...57,718,107 		JBrowse link
Drug-induced Neutropenia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCB1 ATP binding cassette subfamily B member 1 susceptibility ISO associated with Carcinoma, Non-Small-Cell Lung;DNA:SNP: :2677G>T(human)
associated with Precursor Cell Lymphoblastic Leukemia-Lymphoma;DNA:SNPs:rs1045642,rs1128503(human)
Breast Neoplasms;DNA:SNP: :3435 C>T(human)		 RGD PMID:17534875 PMID:22271208 PMID:25007187 RGD:11080964 RGD:11080979 RGD:11081001 NCBI chr14:13,644,891...13,852,829
Ensembl chr14:13,542,647...13,742,727 		JBrowse link
G ABCC2 ATP binding cassette subfamily C member 2 susceptibility
no_association		 ISO associated with neoplasm;DNA:SNP:rs12762549(human) RGD PMID:18294295 PMID:23188068 RGD:11080980 RGD:11080999 NCBI chr28:12,670,885...12,740,124
Ensembl chr28:12,670,885...12,740,740 		JBrowse link
G CSF3 colony stimulating factor 3 treatment ISO associated with Hepatitis C, Chronic;
associated with Leukemia, Hairy Cell;		 RGD PMID:2461131 PMID:17660602 RGD:11039035 RGD:11039036 NCBI chr 9:22,529,643...22,532,326
Ensembl chr 9:22,530,698...22,533,108 		JBrowse link
G DLA-DQB1 major histocompatibility complex, class II, DQ beta 1 ISO RGD PMID:27400856 RGD:14928329 NCBI chr12:2,305,307...2,307,711 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 mutation: :p.M166V (496A>G) (human)
associated with Neoplasms;DNA:missense mutations: :multiple
DNA:splice-site mutation, missense mutations: :multiple
associated with Colorectal Neoplasms;DNA:SNPs: :rs1801159 (1896T>C), rs17376848 (human)		 RGD PMID:11156223 PMID:12209976 PMID:19473056 PMID:23942539 RGD:11098817 RGD:11251736 RGD:11251737 RGD:11251738 NCBI chr 6:51,789,786...52,564,802
Ensembl chr 6:51,814,573...52,580,923 		JBrowse link
G ERCC1 ERCC excision repair 1, endonuclease non-catalytic subunit treatment ISO associated with Colorectal Neoplasms;DNA:SNP RGD PMID:23543295 RGD:11340199 NCBI chr 1:110,130,353...110,146,660
Ensembl chr 1:110,130,481...110,146,602 		JBrowse link
G ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit treatment ISO associated with Urinary Bladder Neoplasms;DNA:SNP: :p.K751Q (rs13181) (human) RGD PMID:21047201 RGD:11098572 NCBI chr 1:110,173,781...110,191,612
Ensembl chr 1:110,173,715...110,190,125 		JBrowse link
G ERCC6 ERCC excision repair 6, chromatin remodeling factor treatment ISO associated with lung non-small cell carcinoma;DNA:SNP:intron: (rs4253212) (human) RGD PMID:28924235 RGD:153323316 NCBI chr28:1,358,383...1,432,276
Ensembl chr28:1,361,107...1,427,162 		JBrowse link
G GSTP1 glutathione S-transferase pi 1 susceptibility ISO DNA:SNP:cds:p.I105V (rs1695) (human) RGD PMID:23812950 RGD:10755330 NCBI chr18:49,905,161...49,908,182
Ensembl chr18:49,905,161...49,908,182 		JBrowse link
G IL1A interleukin 1 alpha treatment ISO associated with Carcinoma, Non-Small-Cell Lung RGD PMID:7666093 RGD:11051963 NCBI chr17:36,969,581...36,979,445
Ensembl chr17:36,970,573...36,979,435 		JBrowse link
G LOC478984 low affinity immunoglobulin gamma Fc region receptor III 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:19933905 PMID:20730791 PMID:21883784 RGD:11344964 RGD:11344973 RGD:11352256 NCBI chr38:21,054,870...21,060,948 JBrowse link
G MDM2 MDM2 proto-oncogene susceptibility ISO associated with Small Cell Lung Carcinoma;DNA:SNP::rs2279744(human) RGD PMID:24732641 RGD:11073715 NCBI chr10:10,936,288...10,963,118
Ensembl chr10:10,893,719...10,962,596 		JBrowse link
G POLD1 DNA polymerase delta 1, catalytic subunit treatment ISO associated with lung non-small cell carcinoma; DNA:SNPs:exon, introns: (rs1726801, rs1673041, rs3219341) (human) RGD PMID:28924235 RGD:153323316 NCBI chr 1:106,302,583...106,331,353
Ensembl chr 1:106,302,574...106,331,385 		JBrowse link
G SLCO1B3 solute carrier organic anion transporter family member 1B3 no_association
susceptibility		 ISO associated with neoplasm;DNA:SNP: rs11045585(human)
associated with neoplasm;DNA:SNP:rs11045585(human)		 RGD PMID:18294295 PMID:23188068 RGD:11080980 RGD:11080999 NCBI chr27:26,411,008...26,496,174
Ensembl chr27:26,411,010...26,470,989 		JBrowse link
G SOD2 superoxide dismutase 2 susceptibility ISO associated with female breast cancer;DNA:missense mutation:cds:p.V16A (rs4880) (human) RGD PMID:20309628 RGD:11035278 NCBI chr 1:48,943,472...48,955,158
Ensembl chr 1:48,836,262...48,955,706 		JBrowse link
G TP53 tumor protein p53 susceptibility ISO associated with Small Cell Lung Carcinoma;DNA:SNP:: rs1042522(human) RGD PMID:24732641 RGD:11073715 NCBI chr 5:32,561,406...32,565,149
Ensembl chr 5:32,560,598...32,574,109 		JBrowse link
Febrile Neutropenia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CCL2 C-C motif chemokine ligand 2 ISO associated with Hematologic Diseases;protein:increased expression:plasma (human) RGD PMID:23369970 RGD:11528559 NCBI chr 9:39,008,187...39,009,932 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 3:69,305,731...69,348,183
Ensembl chr 3:69,305,731...69,348,177 		JBrowse link
Nonimmune Chronic Idiopathic Neutropenia, Adult term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GFI1 growth factor independent 1 transcriptional repressor ISO ClinVar Annotator: match by term: Nonimmune chronic idiopathic neutropenia of adults OMIM
ClinVar		 PMID:11807637 PMID:12778173 PMID:25741868 PMID:28492532 NCBI chr 6:56,473,032...56,484,422
Ensembl chr 6:56,256,305...56,484,422 		JBrowse link
G TERT telomerase reverse transcriptase ISO RGD PMID:22133767 RGD:11038657 NCBI chr34:11,288,622...11,307,790
Ensembl chr34:11,288,622...11,307,951 		JBrowse link
poikiloderma with neutropenia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G USB1 U6 snRNA biogenesis phosphodiesterase 1 ISO ClinVar Annotator: match by term: Poikiloderma with neutropenia OMIM
ClinVar		 PMID:11737690 PMID:16199547 PMID:18925663 PMID:20004881 PMID:20503306 More... NCBI chr 2:58,535,173...58,549,877
Ensembl chr 2:58,536,142...58,549,778 		JBrowse link
Severe Chronic Neutropenia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CSF3R colony stimulating factor 3 receptor ISO RGD PMID:9639496 RGD:10450484 NCBI chr15:5,818,985...5,832,455
Ensembl chr15:5,822,025...5,831,882 		JBrowse link
severe congenital neutropenia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CSF3R colony stimulating factor 3 receptor disease_progression ISO ClinVar Annotator: match by term: Severe congenital neutropenia RGD
ClinVar		 PMID:16985178 PMID:24753537 PMID:26324699 PMID:28492532 PMID:32581362 RGD:10450485 NCBI chr15:5,818,985...5,832,455
Ensembl chr15:5,822,025...5,831,882 		JBrowse link
G ELANE elastase, neutrophil expressed ISO DNA:mutation:intron:c.597+1G>A (human)
mRNA:decreased expression:myeloid CD33+ cell:
DNA:mutations: :		 RGD PMID:10581030 PMID:19620402 PMID:21425445 PMID:24616599 RGD:10450514 RGD:10450519 RGD:10450525 RGD:1598891 NCBI chr20:57,789,044...57,790,932
Ensembl chr20:57,788,062...57,790,932 		JBrowse link
G FCHO1 FCH and mu domain containing endocytic adaptor 1 ISO ClinVar Annotator: match by term: Severe congenital neutropenia ClinVar PMID:30822429 PMID:32098969 NCBI chr20:45,106,982...45,131,173
Ensembl chr20:45,106,983...45,134,325 		JBrowse link
G G6PC3 glucose-6-phosphatase catalytic subunit 3 ISO ClinVar Annotator: match by term: Severe congenital neutropenia ClinVar NCBI chr 9:19,299,619...19,304,038
Ensembl chr 9:19,260,240...19,303,995 		JBrowse link
G GFI1 growth factor independent 1 transcriptional repressor ISO OMIM:202700 | OMIM:300299 | OMIM:610738 | OMIM:612541 | OMIM:613107 | OMIM:615285 | OMIM:616022 MouseDO NCBI chr 6:56,473,032...56,484,422
Ensembl chr 6:56,256,305...56,484,422 		JBrowse link
G HAX1 HCLS1 associated protein X-1 ISO ClinVar Annotator: match by term: Severe congenital neutropenia ClinVar PMID:16199547 PMID:17187068 PMID:19036076 PMID:19499579 PMID:22624626 More... NCBI chr 7:42,969,711...42,972,783
Ensembl chr 7:42,969,713...42,972,710 		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 chr20:8,372,981...8,376,089
Ensembl chr20:8,373,316...8,376,085 		JBrowse link
G TCIRG1 T cell immune regulator 1, ATPase H+ transporting V0 subunit a3 ISO ClinVar Annotator: match by term: Congenital neutropenia ClinVar PMID:24753205 NCBI chr18:49,784,480...49,794,361
Ensembl chr18:49,784,490...49,794,317 		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 chr20:57,789,044...57,790,932
Ensembl chr20:57,788,062...57,790,932 		JBrowse link
G TCIRG1 T cell immune regulator 1, ATPase H+ transporting V0 subunit a3 ISO ClinVar Annotator: match by term: Neutropenia, severe congenital, 1, autosomal dominant ClinVar PMID:24753205 NCBI chr18:49,784,480...49,794,361
Ensembl chr18:49,784,490...49,794,317 		JBrowse link
G VPS13B vacuolar protein sorting 13 homolog B ISO ClinVar Annotator: match by term: Neutropenia, severe congenital, 1, autosomal dominant ClinVar PMID:16648375 PMID:25741868 PMID:28492532 NCBI chr13:1,101,226...1,834,933
Ensembl chr13:1,101,610...1,871,225 		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 6:56,134,770...56,206,943
Ensembl chr 6:56,174,719...56,205,741 		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 6:56,255,753...56,450,631
Ensembl chr 6:56,256,305...56,484,422 		JBrowse link
G GFI1 growth factor independent 1 transcriptional repressor ISO ClinVar Annotator: match by term: Neutropenia, severe congenital, 2, autosomal dominant OMIM
ClinVar		 PMID:9536098 PMID:11807637 PMID:12778173 PMID:17576681 PMID:20560965 More... NCBI chr 6:56,473,032...56,484,422
Ensembl chr 6:56,256,305...56,484,422 		JBrowse link
G LOC119872403 small nucleolar RNA SNORD21 ISO ClinVar Annotator: match by term: Neutropenia, severe congenital, 2, autosomal dominant ClinVar PMID:28492532
G RPL5 ribosomal protein L5 ISO ClinVar Annotator: match by term: Neutropenia, severe congenital, 2, autosomal dominant ClinVar PMID:28492532 NCBI chr 6:56,207,171...56,216,030
Ensembl chr 6:56,207,173...56,215,956 		JBrowse link
severe congenital neutropenia 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADAM15 ADAM metallopeptidase domain 15 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 7:42,432,067...42,443,463
Ensembl chr 7:42,428,113...42,443,429 		JBrowse link
G ADAMTSL4 ADAMTS like 4 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr17:59,736,628...59,747,689
Ensembl chr17:59,736,534...59,746,980 		JBrowse link
G ADAR adenosine deaminase RNA specific ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:17187068 PMID:28492532 NCBI chr 7:42,762,021...42,785,192
Ensembl chr 7:42,748,136...42,782,999 		JBrowse link
G ANP32E acidic nuclear phosphoprotein 32 family member E ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr17:59,460,864...59,482,467
Ensembl chr17:59,462,766...59,477,936 		JBrowse link
G ANXA9 annexin A9 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr17:60,084,296...60,098,631
Ensembl chr17:60,084,241...60,094,136 		JBrowse link
G APH1A aph-1 homolog A, gamma-secretase subunit ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr17:59,510,805...59,514,431
Ensembl chr17:59,502,523...59,514,403 		JBrowse link
G AQP10 aquaporin 10 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:17187068 PMID:28492532 NCBI chr 7:42,961,041...42,964,053 JBrowse link
G ARHGEF2 Rho/Rac guanine nucleotide exchange factor 2 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 7:41,835,322...41,850,488
Ensembl chr 7:41,812,353...41,850,488 		JBrowse link
G ARNT aryl hydrocarbon receptor nuclear translocator ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 Ensembl chr17:59,941,353...60,010,867
Ensembl chr17:59,941,353...60,010,867 		JBrowse link
G ASH1L ASH1 like histone lysine methyltransferase ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 7:42,046,262...42,227,737
Ensembl chr 7:42,046,569...42,225,456 		JBrowse link
G ATP8B2 ATPase phospholipid transporting 8B2 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:17187068 PMID:28492532 NCBI chr 7:42,940,219...42,959,964
Ensembl chr 7:42,941,753...42,964,026 		JBrowse link
G BCAN brevican ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 7:41,313,578...41,330,178
Ensembl chr 7:41,313,579...41,330,178 		JBrowse link
G BGLAP bone gamma-carboxyglutamate protein ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 7:41,630,092...41,630,976
Ensembl chr 7:41,630,098...41,665,791 		JBrowse link
G BNIPL BCL2 interacting protein like ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr17:60,126,341...60,135,209
Ensembl chr17:60,126,745...60,134,605 		JBrowse link
G C17H1orf54 chromosome 17 C1orf54 homolog ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr17:59,514,661...59,522,685
Ensembl chr17:59,516,519...59,523,562 		JBrowse link
G C17H1orf56 chromosome 17 C1orf56 homolog ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr17:60,135,343...60,137,489
Ensembl chr17:60,135,463...60,136,527 		JBrowse link
G C2CD4D C2 calcium dependent domain containing 4D ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532
G C7H1orf43 chromosome 7 C1orf43 homolog ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:17187068 PMID:28492532 NCBI chr 7:43,015,099...43,033,989
Ensembl chr 7:43,015,268...43,033,974 		JBrowse link
G CA14 carbonic anhydrase 14 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr17:59,504,181...59,510,497
Ensembl chr17:59,504,483...59,510,127 		JBrowse link
G CCT3 chaperonin containing TCP1 subunit 3 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 7:41,566,274...41,583,903
Ensembl chr 7:41,566,292...41,584,863 		JBrowse link
G CDC42SE1 CDC42 small effector 1 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr17:60,138,497...60,146,344
Ensembl chr17:60,140,632...60,155,099 		JBrowse link
G CELF3 CUGBP Elav-like family member 3 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr17:60,733,148...60,747,553
Ensembl chr17:60,735,628...60,746,615 		JBrowse link
G CERS2 ceramide synthase 2 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr17:60,069,723...60,073,622
Ensembl chr17:60,070,585...60,081,502 		JBrowse link
G CGN cingulin ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr17:60,553,423...60,578,804
Ensembl chr17:60,559,116...60,578,705 		JBrowse link
G CHRNB2 cholinergic receptor nicotinic beta 2 subunit ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:17187068 PMID:28492532 NCBI chr 7:42,786,505...42,797,976
Ensembl chr 7:42,789,600...42,795,722 		JBrowse link
G CHTOP chromatin target of PRMT1 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 7:43,418,902...43,428,012
Ensembl chr 7:43,419,707...43,427,856 		JBrowse link
G CIART circadian associated repressor of transcription ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr17:59,524,715...59,529,535
Ensembl chr17:59,525,987...59,529,402 		JBrowse link
G CKS1B CDC28 protein kinase regulatory subunit 1B ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 7:42,496,912...42,499,907
Ensembl chr 7:42,496,912...42,499,875 		JBrowse link
G CLK2 CDC like kinase 2 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 7:42,284,869...42,294,434
Ensembl chr 7:42,284,699...42,294,394 		JBrowse link
G CRABP2 cellular retinoic acid binding protein 2 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 7:41,277,580...41,282,158
Ensembl chr 7:41,277,644...41,281,833 		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 7:43,161,814...43,166,149
Ensembl chr 7:43,161,816...43,165,641 		JBrowse link
G CRNN cornulin ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr17:61,380,706...61,386,294
Ensembl chr17:61,380,706...61,386,504 		JBrowse link
G CRTC2 CREB regulated transcription coactivator 2 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 7:43,175,349...43,184,242
Ensembl chr 7:43,175,349...43,184,244 		JBrowse link
G CTSK cathepsin K ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr17:59,928,725...59,938,293
Ensembl chr17:59,929,287...59,938,507 		JBrowse link
G CTSS cathepsin S ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr17:59,893,840...59,910,878
Ensembl chr17:59,893,840...59,910,849 		JBrowse link
G DAP3 death associated protein 3 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 7:42,011,485...42,045,900
Ensembl chr 7:42,011,506...42,026,894 		JBrowse link
G DCST1 DC-STAMP domain containing 1 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 7:42,443,787...42,457,361
Ensembl chr 7:42,428,113...42,457,062 		JBrowse link
G DCST2 DC-STAMP domain containing 2 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 7:42,457,294...42,466,549
Ensembl chr 7:42,457,366...42,466,374 		JBrowse link
G DENND4B DENN domain containing 4B ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 7:43,185,637...43,198,309
Ensembl chr 7:43,185,550...43,198,577 		JBrowse link
G DPM3 dolichyl-phosphate mannosyltransferase subunit 3, regulatory ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 7:42,368,898...42,369,686 JBrowse link
G ECM1 extracellular matrix protein 1 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr17:59,696,125...59,701,990
Ensembl chr17:59,696,477...59,701,744 		JBrowse link
G EFNA1 ephrin A1 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 7:42,373,197...42,381,161
Ensembl chr 7:42,373,639...42,378,946 		JBrowse link
G EFNA3 ephrin A3 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 7:42,409,215...42,417,701
Ensembl chr 7:42,410,119...42,417,599 		JBrowse link
G EFNA4 ephrin A4 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 7:42,427,539...42,431,788
Ensembl chr 7:42,428,113...42,443,429 		JBrowse link
G ENSA endosulfine alpha ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr17:59,800,822...59,807,884
Ensembl chr17:59,801,306...59,807,869 		JBrowse link
G ENTREP3 endosomal transmembrane epsin interactor 3 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 7:42,299,568...42,305,177
Ensembl chr 7:42,300,009...42,372,615 		JBrowse link
G FDPS farnesyl diphosphate synthase ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 7:42,241,086...42,250,373
Ensembl chr 7:42,241,107...42,250,225 		JBrowse link
G FLAD1 flavin adenine dinucleotide synthetase 1 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 7:42,489,045...42,494,524
Ensembl chr 7:42,489,061...42,494,471 		JBrowse link
G FLG filaggrin ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr17:61,217,915...61,233,068 JBrowse link
G GABPB2 GA binding protein transcription factor subunit beta 2 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr17:60,154,346...60,183,839
Ensembl chr17:60,155,407...60,183,716 		JBrowse link
G GATAD2B GATA zinc finger domain containing 2B ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 7:43,201,307...43,295,868
Ensembl chr 7:43,254,305...43,294,211 		JBrowse link
G GBA1 glucosylceramidase beta 1 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 7:42,317,704...42,322,285
Ensembl chr 7:42,317,862...42,322,864 		JBrowse link
G GLMP glycosylated lysosomal membrane protein ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 7:41,588,024...41,590,857
Ensembl chr 7:41,588,075...41,590,555 		JBrowse link
G GOLPH3L golgi phosphoprotein 3 like ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr17:59,819,152...59,859,650
Ensembl chr17:59,819,157...59,859,602 		JBrowse link
G GPATCH4 G-patch domain containing 4 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 7:41,359,986...41,367,085
Ensembl chr 7:41,360,575...41,366,665 		JBrowse link
G HAPLN2 hyaluronan and proteoglycan link protein 2 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 7:41,340,493...41,346,607
Ensembl chr 7:41,341,883...41,344,117 		JBrowse link
G HAX1 HCLS1 associated protein X-1 ISO ClinVar Annotator: match by term: Kostmann syndrome OMIM
ClinVar		 PMID:9536098 PMID:10581030 PMID:11519978 PMID:16199547 PMID:17187068 More... NCBI chr 7:42,969,711...42,972,783
Ensembl chr 7:42,969,713...42,972,710 		JBrowse link
G HCN3 hyperpolarization activated cyclic nucleotide gated potassium channel 3 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 7:42,272,756...42,282,770
Ensembl chr 7:42,273,571...42,282,595 		JBrowse link
G HDGF heparin binding growth factor ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 7:41,244,740...41,247,919
Ensembl chr 7:41,238,175...41,247,921 		JBrowse link
G HORMAD1 HORMA domain containing 1 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr17:59,860,527...59,883,031
Ensembl chr17:59,860,934...59,882,980 		JBrowse link
G IL6R interleukin 6 receptor ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:17187068 PMID:28492532 NCBI chr 7:42,877,731...42,920,149
Ensembl chr 7:42,880,885...42,920,090 		JBrowse link
G ILF2 interleukin enhancer binding factor 2 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 7:43,403,136...43,410,378
Ensembl chr 7:43,403,222...43,410,375 		JBrowse link
G INSRR insulin receptor related receptor ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 7:41,161,036...41,176,739
Ensembl chr 7:41,161,333...41,175,940 		JBrowse link
G INTS3 integrator complex subunit 3 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 7:43,325,522...43,361,669
Ensembl chr 7:43,326,315...43,361,362 		JBrowse link
G IQGAP3 IQ motif containing GTPase activating protein 3 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 7:41,384,539...41,420,529
Ensembl chr 7:41,382,994...41,419,742 		JBrowse link
G ISG20L2 interferon stimulated exonuclease gene 20 like 2 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 7:41,258,140...41,263,635
Ensembl chr 7:41,258,750...41,263,003 		JBrowse link
G IVL involucrin ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr17:61,714,470...61,716,961 JBrowse link
G JTB jumping translocation breakpoint ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 7:43,159,164...43,161,907 JBrowse link
G KCNN3 potassium calcium-activated channel subfamily N member 3 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 7:42,562,500...42,704,862
Ensembl chr 7:42,572,432...42,698,047 		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 7:41,875,837...41,893,819
Ensembl chr 7:41,875,652...41,894,572 		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 chr17:61,541,989...61,543,947
Ensembl chr17:61,541,477...61,543,761 		JBrowse link
G KPRP keratinocyte proline rich protein ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr17:61,544,787...61,575,610
Ensembl chr17:61,573,127...61,574,902 		JBrowse link
G KRTCAP2 keratinocyte associated protein 2 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 7:42,354,793...42,357,596
Ensembl chr 7:42,354,040...42,357,600 		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 7:41,760,632...41,764,926
Ensembl chr 7:41,760,638...41,763,299 		JBrowse link
G LCE6A late cornified envelope 6A ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr17:61,653,363...61,654,514 JBrowse link
G LELP1 late cornified envelope like proline rich 1 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr17:61,927,443...61,929,285 JBrowse link
G LENEP lens epithelial protein ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 7:42,487,902...42,488,901
Ensembl chr 7:42,488,363...42,488,548 		JBrowse link
G LINGO4 leucine rich repeat and Ig domain containing 4 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr17:60,814,948...60,820,517
Ensembl chr17:60,815,499...60,817,448 		JBrowse link
G LMNA lamin A/C ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 7:41,702,491...41,719,870
Ensembl chr 7:41,508,450...41,746,931 		JBrowse link
G LOC100685649 cornifin-A ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr17:61,794,303...61,796,053 JBrowse link
G LOC102156046 protein S100-A15A-like ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 7:43,503,226...43,537,485 JBrowse link
G LOC119863999 hornerin-like ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532
G LOC483211 filaggrin-2 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr17:61,311,558...61,323,059 JBrowse link
G LOC490422 GON-4-like protein ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 7:41,927,667...42,000,649 JBrowse link
G LORICRIN loricrin cornified envelope precursor protein ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr17:61,994,297...61,995,591 JBrowse link
G LYSMD1 LysM domain containing 1 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr17:60,222,628...60,230,967
Ensembl chr17:60,223,347...60,230,821 		JBrowse link
G MCL1 MCL1 apoptosis regulator, BCL2 family member ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr17:59,759,605...59,763,111
Ensembl chr17:59,759,605...59,763,111 		JBrowse link
G MEF2D myocyte enhancer factor 2D ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 7:41,455,771...41,473,807
Ensembl chr 7:41,458,514...41,470,197 		JBrowse link
G METTL25B methyltransferase like 25B ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 7:41,251,838...41,258,130
Ensembl chr 7:41,245,628...41,257,937 		JBrowse link
G MEX3A mex-3 RNA binding family member A ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 7:41,742,777...41,749,730
Ensembl chr 7:41,742,785...41,747,628 		JBrowse link
G MINDY1 MINDY lysine 48 deubiquitinase 1 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr17:60,092,245...60,103,797
Ensembl chr17:60,094,702...60,103,307 		JBrowse link
G MLLT11 MLLT11 transcription factor 7 cofactor ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr17:60,142,411...60,153,650
Ensembl chr17:60,152,378...60,152,650 		JBrowse link
G MRPL24 mitochondrial ribosomal protein L24 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 7:41,248,851...41,251,878
Ensembl chr 7:41,249,992...41,251,879 		JBrowse link
G MRPL9 mitochondrial ribosomal protein L9 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr17:60,782,975...60,787,313 JBrowse link
G MRPS21 mitochondrial ribosomal protein S21 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr17:59,534,732...59,543,449
Ensembl chr17:59,534,859...59,543,027 		JBrowse link
G MSTO1 misato mitochondrial distribution and morphology regulator 1 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 7:42,000,141...42,003,941
Ensembl chr 7:42,000,092...42,003,891 		JBrowse link
G MTMR11 myotubularin related protein 11 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr17:59,214,794...59,223,953
Ensembl chr17:59,214,986...59,222,972 		JBrowse link
G MTX1 metaxin 1 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 7:42,322,755...42,327,918
Ensembl chr 7:42,322,762...42,328,701 		JBrowse link
G MUC1 mucin 1, cell surface associated ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 7:42,338,939...42,344,690
Ensembl chr 7:42,340,375...42,344,690 		JBrowse link
G NAXE NAD(P)HX epimerase ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 7:41,367,248...41,369,733
Ensembl chr 7:41,367,275...41,369,862 		JBrowse link
G NES nestin ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 7:41,296,395...41,305,641
Ensembl chr 7:41,295,989...41,303,736 		JBrowse link
G NPR1 natriuretic peptide receptor 1 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 7:43,382,246...43,396,464
Ensembl chr 7:43,283,418...43,396,027 		JBrowse link
G NTRK1 neurotrophic receptor tyrosine kinase 1 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 7:41,140,931...41,159,326
Ensembl chr 7:41,140,879...41,159,288 		JBrowse link
G NUP210L nucleoporin 210 like ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:17187068 PMID:28492532 NCBI chr 7:43,068,259...43,149,202
Ensembl chr 7:43,068,341...43,161,853 		JBrowse link
G OAZ3 ornithine decarboxylase antizyme 3 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr17:60,789,541...60,792,954
Ensembl chr17:60,786,963...60,792,954 		JBrowse link
G OTUD7B OTU deubiquitinase 7B ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr17:59,225,640...59,280,875
Ensembl chr17:59,229,362...59,280,934 		JBrowse link
G PAQR6 progestin and adipoQ receptor family member 6 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 7:41,625,759...41,629,995
Ensembl chr 7:41,628,458...41,629,383 		JBrowse link
G PBXIP1 PBX homeobox interacting protein 1 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 7:42,514,306...42,524,056
Ensembl chr 7:42,514,423...42,523,585 		JBrowse link
G PI4KB phosphatidylinositol 4-kinase beta ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr17:60,359,545...60,386,093
Ensembl chr17:60,360,236...60,384,778 		JBrowse link
G PIP5K1A phosphatidylinositol-4-phosphate 5-kinase type 1 alpha ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr17:60,257,017...60,295,866
Ensembl chr17:60,257,332...60,295,866 		JBrowse link
G PKLR pyruvate kinase L/R ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 7:42,263,899...42,272,770
Ensembl chr 7:42,263,761...42,272,755 		JBrowse link
G PLEKHO1 pleckstrin homology domain containing O1 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr17:59,402,758...59,411,906
Ensembl chr17:59,402,834...59,411,788 		JBrowse link
G PMVK phosphomevalonate kinase ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 7:42,532,968...42,563,618
Ensembl chr 7:42,533,217...42,540,625 		JBrowse link
G POGZ pogo transposable element derived with ZNF domain ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr17:60,464,609...60,511,735
Ensembl chr17:60,465,230...60,511,934 		JBrowse link
G PRCC proline rich mitotic checkpoint control factor ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 7:41,200,398...41,225,494
Ensembl chr 7:41,200,411...41,226,186 		JBrowse link
G PRPF3 pre-mRNA processing factor 3 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr17:59,552,227...59,577,027
Ensembl chr17:59,552,340...59,577,009 		JBrowse link
G PRR9 proline rich 9 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr17:61,938,089...61,939,857
Ensembl chr17:61,938,737...61,939,063 		JBrowse link
G PRUNE1 prune exopolyphosphatase 1 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr17:60,104,724...60,125,899
Ensembl chr17:60,104,958...60,124,900 		JBrowse link
G PSMB4 proteasome 20S subunit beta 4 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr17:60,461,208...60,463,604
Ensembl chr17:60,461,240...60,463,594 		JBrowse link
G PSMD4 proteasome 26S subunit ubiquitin receptor, non-ATPase 4 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr17:60,306,134...60,313,610
Ensembl chr17:60,306,229...60,313,610 		JBrowse link
G PYGO2 pygopus family PHD finger 2 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 7:42,509,760...42,513,744
Ensembl chr 7:42,509,968...42,512,091 		JBrowse link
G RAB13 RAB13, member RAS oncogene family ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 7:43,152,903...43,156,720
Ensembl chr 7:43,153,002...43,156,720 		JBrowse link
G RAB25 RAB25, member RAS oncogene family ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 7:41,752,975...41,758,954
Ensembl chr 7:41,752,975...41,758,906 		JBrowse link
G RFX5 regulatory factor X5 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr17:60,393,773...60,400,150
Ensembl chr17:60,395,321...60,400,009 		JBrowse link
G RHBG Rh family B glycoprotein ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 7:41,532,266...41,548,523
Ensembl chr 7:41,538,214...41,566,057 		JBrowse link
G RIIAD1 regulatory subunit of type II PKA R-subunit domain containing 1 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr17:60,753,380...60,759,713
Ensembl chr17:60,753,092...60,759,733 		JBrowse link
G RIT1 Ras like without CAAX 1 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 7:41,894,726...41,903,450
Ensembl chr 7:41,895,330...41,901,173 		JBrowse link
G RORC RAR related orphan receptor C ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr17:60,821,498...60,842,485
Ensembl chr17:60,821,981...60,842,453 		JBrowse link
G RPRD2 regulation of nuclear pre-mRNA domain containing 2 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr17:59,587,157...59,676,885
Ensembl chr17:59,587,157...59,672,964 		JBrowse link
G RPS27 ribosomal protein S27 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:17187068 PMID:28492532 NCBI chr 7:43,149,465...43,150,658
Ensembl chr 7:43,067,161...43,309,293 		JBrowse link
G RPTN repetin ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr17:61,133,204...61,136,828
Ensembl chr17:61,133,204...61,136,844 		JBrowse link
G RUSC1 RUN and SH3 domain containing 1 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 7:42,232,791...42,240,862
Ensembl chr 7:42,233,156...42,241,345 		JBrowse link
G S100A1 S100 calcium binding protein A1 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 7:43,428,819...43,432,637
Ensembl chr 7:43,428,820...43,433,459 		JBrowse link
G S100A10 S100 calcium binding protein A10 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr17:60,984,138...60,994,915 JBrowse link
G S100A11 S100 calcium binding protein A11 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr17:61,020,136...61,050,513 JBrowse link
G S100A12 S100 calcium binding protein A12 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 7:43,554,078...43,555,470
Ensembl chr 7:43,554,146...43,555,475 		JBrowse link
G S100A13 S100 calcium binding protein A13 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 7:43,428,538...43,442,052
Ensembl chr 7:43,433,253...43,447,513 		JBrowse link
G S100A14 S100 calcium binding protein A14 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 7:43,443,073...43,446,416
Ensembl chr 7:43,444,396...43,446,287 		JBrowse link
G S100A16 S100 calcium binding protein A16 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 7:43,447,422...43,452,625
Ensembl chr 7:43,447,494...43,452,130 		JBrowse link
G S100A2 S100 calcium binding protein A2 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 7:43,473,788...43,482,073
Ensembl chr 7:43,471,753...43,482,105 		JBrowse link
G S100A3 S100 calcium binding protein A3 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 7:43,490,128...43,492,383 JBrowse link
G S100A4 S100 calcium binding protein A4 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 7:43,494,007...43,496,021 JBrowse link
G S100A5 S100 calcium binding protein A5 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 7:43,497,738...43,501,010
Ensembl chr 7:43,491,466...43,500,936 		JBrowse link
G S100A6 S100 calcium binding protein A6 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 7:43,501,430...43,503,100
Ensembl chr 7:43,501,989...43,541,604 		JBrowse link
G S100A8 S100 calcium binding protein A8 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 7:43,540,667...43,541,604
Ensembl chr 7:43,501,989...43,541,604 		JBrowse link
G S100A9 S100 calcium binding protein A9 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 7:43,566,993...43,570,074 JBrowse link
G SCAMP3 secretory carrier membrane protein 3 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 7:42,294,764...42,299,097 JBrowse link
G SCNM1 sodium channel modifier 1 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr17:60,231,034...60,233,349
Ensembl chr17:60,231,104...60,233,337 		JBrowse link
G SELENBP1 selenium binding protein 1 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr17:60,410,727...60,418,770
Ensembl chr17:60,410,734...60,418,704 		JBrowse link
G SEMA4A semaphorin 4A ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 7:41,670,814...41,695,349
Ensembl chr 7:41,672,120...41,692,460 		JBrowse link
G SEMA6C semaphorin 6C ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr17:60,195,798...60,208,630
Ensembl chr17:60,195,785...60,208,630 		JBrowse link
G SETDB1 SET domain bifurcated histone lysine methyltransferase 1 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr17:60,035,819...60,069,721
Ensembl chr17:60,037,379...60,069,551 		JBrowse link
G SF3B4 splicing factor 3b subunit 4 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr17:59,208,989...59,214,643
Ensembl chr17:59,208,990...59,213,991 		JBrowse link
G SH2D2A SH2 domain containing 2A ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 7:41,186,721...41,195,987
Ensembl chr 7:41,186,252...41,195,122 		JBrowse link
G SHC1 SHC adaptor protein 1 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 7:42,501,829...42,509,613
Ensembl chr 7:42,500,185...42,508,276 		JBrowse link
G SHE Src homology 2 domain containing E ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:17187068 PMID:28492532 NCBI chr 7:42,853,116...42,869,293
Ensembl chr 7:42,853,083...42,867,858 		JBrowse link
G SLC25A44 solute carrier family 25 member 44 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 7:41,630,868...41,665,894
Ensembl chr 7:41,630,098...41,665,791 		JBrowse link
G SLC27A3 solute carrier family 27 member 3 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 7:43,321,059...43,325,766
Ensembl chr 7:43,321,130...43,325,089 		JBrowse link
G SLC39A1 solute carrier family 39 member 1 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 7:43,171,219...43,174,876
Ensembl chr 7:43,171,287...43,174,036 		JBrowse link
G SLC50A1 solute carrier family 50 member 1 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 7:42,370,031...42,372,390
Ensembl chr 7:42,370,299...42,372,322 		JBrowse link
G SMCP sperm mitochondria associated cysteine rich protein ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr17:61,694,605...61,699,122
Ensembl chr17:61,694,605...61,699,225 		JBrowse link
G SMG5 SMG5 nonsense mediated mRNA decay factor ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 7:41,598,111...41,624,575
Ensembl chr 7:41,598,104...41,624,575 		JBrowse link
G SNAPIN SNAP associated protein ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 7:43,410,554...43,411,929
Ensembl chr 7:43,410,998...43,412,323 		JBrowse link
G SNX27 sorting nexin 27 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr17:60,653,719...60,727,928
Ensembl chr17:60,653,732...60,724,253 		JBrowse link
G SSR2 signal sequence receptor subunit 2 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 7:41,790,289...41,801,438
Ensembl chr 7:41,795,565...41,801,421 		JBrowse link
G SYT11 synaptotagmin 11 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 7:41,910,102...41,929,020
Ensembl chr 7:41,912,920...41,929,617 		JBrowse link
G TARS2 threonyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr17:59,681,889...59,695,747
Ensembl chr17:59,681,936...59,695,746 		JBrowse link
G TCHH trichohyalin ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr17:61,095,132...61,102,663 JBrowse link
G TCHHL1 trichohyalin like 1 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr17:61,077,129...61,081,240
Ensembl chr17:61,077,944...61,081,233 		JBrowse link
G TDRKH tudor and KH domain containing ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr17:60,794,937...60,807,852
Ensembl chr17:60,795,813...60,805,449 		JBrowse link
G THBS3 thrombospondin 3 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 7:42,327,899...42,338,177
Ensembl chr 7:42,328,592...42,338,171 		JBrowse link
G THEM4 thioesterase superfamily member 4 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr17:60,889,245...60,924,848
Ensembl chr17:60,891,660...60,925,091 		JBrowse link
G THEM5 thioesterase superfamily member 5 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr17:60,857,348...60,865,789
Ensembl chr17:60,857,350...60,865,579 		JBrowse link
G TMEM79 transmembrane protein 79 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 7:41,591,332...41,597,993
Ensembl chr 7:41,591,848...41,595,816 		JBrowse link
G TMOD4 tropomodulin 4 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr17:60,234,061...60,238,950
Ensembl chr17:60,234,096...60,238,864 		JBrowse link
G TNFAIP8L2 TNF alpha induced protein 8 like 2 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr17:60,219,239...60,222,818
Ensembl chr17:60,221,592...60,222,146 		JBrowse link
G TPM3 tropomyosin 3 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:17187068 PMID:28492532 NCBI chr 7:43,039,360...43,067,297
Ensembl chr 7:43,039,382...43,067,296 		JBrowse link
G TRIM46 tripartite motif containing 46 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 7:42,345,506...42,354,667
Ensembl chr 7:42,345,523...42,354,557 		JBrowse link
G TTC24 tetratricopeptide repeat domain 24 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 7:41,372,960...41,381,514 JBrowse link
G TUFT1 tuftelin 1 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr17:60,580,032...60,628,422
Ensembl chr17:60,580,082...60,627,174 		JBrowse link
G UBAP2L ubiquitin associated protein 2 like ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:17187068 PMID:28492532 NCBI chr 7:42,973,598...43,015,007
Ensembl chr 7:42,974,092...43,010,848 		JBrowse link
G UBE2Q1 ubiquitin conjugating enzyme E2 Q1 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:17187068 PMID:28492532 NCBI chr 7:42,806,185...42,813,586
Ensembl chr 7:42,806,185...42,814,747 		JBrowse link
G UBQLN4 ubiquilin 4 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 7:41,764,209...41,778,457
Ensembl chr 7:41,764,253...41,777,002 		JBrowse link
G VPS45 vacuolar protein sorting 45 homolog ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr17:59,327,781...59,402,172
Ensembl chr17:59,327,806...59,397,811 		JBrowse link
G VPS72 vacuolar protein sorting 72 homolog ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr17:60,239,299...60,252,323
Ensembl chr17:60,239,395...60,252,280 		JBrowse link
G ZBTB7B zinc finger and BTB domain containing 7B ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 7:42,468,376...42,482,219
Ensembl chr 7:42,468,247...42,483,436 		JBrowse link
G ZNF687 zinc finger protein 687 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr17:60,350,753...60,359,542
Ensembl chr17:60,353,847...60,359,619 		JBrowse link
severe congenital neutropenia 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G G6PC3 glucose-6-phosphatase catalytic subunit 3 ISO ClinVar Annotator: match by term: Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:19011569 PMID:19118303 More... NCBI chr 9:19,299,619...19,304,038
Ensembl chr 9:19,260,240...19,303,995 		JBrowse link
severe congenital neutropenia 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADAM15 ADAM metallopeptidase domain 15 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 7:42,432,067...42,443,463
Ensembl chr 7:42,428,113...42,443,429 		JBrowse link
G ADAMTSL4 ADAMTS like 4 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr17:59,736,628...59,747,689
Ensembl chr17:59,736,534...59,746,980 		JBrowse link
G ADAR adenosine deaminase RNA specific ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 7:42,762,021...42,785,192
Ensembl chr 7:42,748,136...42,782,999 		JBrowse link
G ANP32E acidic nuclear phosphoprotein 32 family member E ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr17:59,460,864...59,482,467
Ensembl chr17:59,462,766...59,477,936 		JBrowse link
G ANXA9 annexin A9 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr17:60,084,296...60,098,631
Ensembl chr17:60,084,241...60,094,136 		JBrowse link
G APH1A aph-1 homolog A, gamma-secretase subunit ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr17:59,510,805...59,514,431
Ensembl chr17:59,502,523...59,514,403 		JBrowse link
G AQP10 aquaporin 10 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 7:42,961,041...42,964,053 JBrowse link
G ARHGEF2 Rho/Rac guanine nucleotide exchange factor 2 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 7:41,835,322...41,850,488
Ensembl chr 7:41,812,353...41,850,488 		JBrowse link
G ARNT aryl hydrocarbon receptor nuclear translocator ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 Ensembl chr17:59,941,353...60,010,867
Ensembl chr17:59,941,353...60,010,867 		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 7:42,046,262...42,227,737
Ensembl chr 7:42,046,569...42,225,456 		JBrowse link
G ATP8B2 ATPase phospholipid transporting 8B2 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 7:42,940,219...42,959,964
Ensembl chr 7:42,941,753...42,964,026 		JBrowse link
G BCAN brevican ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 7:41,313,578...41,330,178
Ensembl chr 7:41,313,579...41,330,178 		JBrowse link
G BGLAP bone gamma-carboxyglutamate protein ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 7:41,630,092...41,630,976
Ensembl chr 7:41,630,098...41,665,791 		JBrowse link
G BNIPL BCL2 interacting protein like ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr17:60,126,341...60,135,209
Ensembl chr17:60,126,745...60,134,605 		JBrowse link
G C17H1orf54 chromosome 17 C1orf54 homolog ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr17:59,514,661...59,522,685
Ensembl chr17:59,516,519...59,523,562 		JBrowse link
G C17H1orf56 chromosome 17 C1orf56 homolog ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr17:60,135,343...60,137,489
Ensembl chr17:60,135,463...60,136,527 		JBrowse link
G C2CD4D C2 calcium dependent domain containing 4D ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532
G C7H1orf43 chromosome 7 C1orf43 homolog ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 7:43,015,099...43,033,989
Ensembl chr 7:43,015,268...43,033,974 		JBrowse link
G CA14 carbonic anhydrase 14 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr17:59,504,181...59,510,497
Ensembl chr17:59,504,483...59,510,127 		JBrowse link
G CCT3 chaperonin containing TCP1 subunit 3 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 7:41,566,274...41,583,903
Ensembl chr 7:41,566,292...41,584,863 		JBrowse link
G CDC42SE1 CDC42 small effector 1 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr17:60,138,497...60,146,344
Ensembl chr17:60,140,632...60,155,099 		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 chr17:60,733,148...60,747,553
Ensembl chr17:60,735,628...60,746,615 		JBrowse link
G CERS2 ceramide synthase 2 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr17:60,069,723...60,073,622
Ensembl chr17:60,070,585...60,081,502 		JBrowse link
G CGN cingulin ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr17:60,553,423...60,578,804
Ensembl chr17:60,559,116...60,578,705 		JBrowse link
G CHRNB2 cholinergic receptor nicotinic beta 2 subunit ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 7:42,786,505...42,797,976
Ensembl chr 7:42,789,600...42,795,722 		JBrowse link
G CHTOP chromatin target of PRMT1 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 7:43,418,902...43,428,012
Ensembl chr 7:43,419,707...43,427,856 		JBrowse link
G CIART circadian associated repressor of transcription ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr17:59,524,715...59,529,535
Ensembl chr17:59,525,987...59,529,402 		JBrowse link
G CKS1B CDC28 protein kinase regulatory subunit 1B ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 7:42,496,912...42,499,907
Ensembl chr 7:42,496,912...42,499,875 		JBrowse link
G CLK2 CDC like kinase 2 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 7:42,284,869...42,294,434
Ensembl chr 7:42,284,699...42,294,394 		JBrowse link
G CRABP2 cellular retinoic acid binding protein 2 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 7:41,277,580...41,282,158
Ensembl chr 7:41,277,644...41,281,833 		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 7:43,161,814...43,166,149
Ensembl chr 7:43,161,816...43,165,641 		JBrowse link
G CRNN cornulin ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr17:61,380,706...61,386,294
Ensembl chr17:61,380,706...61,386,504 		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 7:43,175,349...43,184,242
Ensembl chr 7:43,175,349...43,184,244 		JBrowse link
G CTSK cathepsin K ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr17:59,928,725...59,938,293
Ensembl chr17:59,929,287...59,938,507 		JBrowse link
G CTSS cathepsin S ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr17:59,893,840...59,910,878
Ensembl chr17:59,893,840...59,910,849 		JBrowse link
G DAP3 death associated protein 3 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 7:42,011,485...42,045,900
Ensembl chr 7:42,011,506...42,026,894 		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 7:42,443,787...42,457,361
Ensembl chr 7:42,428,113...42,457,062 		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 7:42,457,294...42,466,549
Ensembl chr 7:42,457,366...42,466,374 		JBrowse link
G DENND4B DENN domain containing 4B ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 7:43,185,637...43,198,309
Ensembl chr 7:43,185,550...43,198,577 		JBrowse link
G DPM3 dolichyl-phosphate mannosyltransferase subunit 3, regulatory ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 7:42,368,898...42,369,686 JBrowse link
G ECM1 extracellular matrix protein 1 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr17:59,696,125...59,701,990
Ensembl chr17:59,696,477...59,701,744 		JBrowse link
G EFNA1 ephrin A1 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 7:42,373,197...42,381,161
Ensembl chr 7:42,373,639...42,378,946 		JBrowse link
G EFNA3 ephrin A3 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 7:42,409,215...42,417,701
Ensembl chr 7:42,410,119...42,417,599 		JBrowse link
G EFNA4 ephrin A4 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 7:42,427,539...42,431,788
Ensembl chr 7:42,428,113...42,443,429 		JBrowse link
G ENSA endosulfine alpha ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr17:59,800,822...59,807,884
Ensembl chr17:59,801,306...59,807,869 		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 7:42,299,568...42,305,177
Ensembl chr 7:42,300,009...42,372,615 		JBrowse link
G FDPS farnesyl diphosphate synthase ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 7:42,241,086...42,250,373
Ensembl chr 7:42,241,107...42,250,225 		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 7:42,489,045...42,494,524
Ensembl chr 7:42,489,061...42,494,471 		JBrowse link
G FLG filaggrin ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr17:61,217,915...61,233,068 JBrowse link
G GABPB2 GA binding protein transcription factor subunit beta 2 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr17:60,154,346...60,183,839
Ensembl chr17:60,155,407...60,183,716 		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 7:43,201,307...43,295,868
Ensembl chr 7:43,254,305...43,294,211 		JBrowse link
G GBA1 glucosylceramidase beta 1 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 7:42,317,704...42,322,285
Ensembl chr 7:42,317,862...42,322,864 		JBrowse link
G GLMP glycosylated lysosomal membrane protein ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 7:41,588,024...41,590,857
Ensembl chr 7:41,588,075...41,590,555 		JBrowse link
G GOLPH3L golgi phosphoprotein 3 like ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr17:59,819,152...59,859,650
Ensembl chr17:59,819,157...59,859,602 		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 7:41,359,986...41,367,085
Ensembl chr 7:41,360,575...41,366,665 		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 7:41,340,493...41,346,607
Ensembl chr 7:41,341,883...41,344,117 		JBrowse link
G HAX1 HCLS1 associated protein X-1 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 7:42,969,711...42,972,783
Ensembl chr 7:42,969,713...42,972,710 		JBrowse link
G HCN3 hyperpolarization activated cyclic nucleotide gated potassium channel 3 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 7:42,272,756...42,282,770
Ensembl chr 7:42,273,571...42,282,595 		JBrowse link
G HDGF heparin binding growth factor ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 7:41,244,740...41,247,919
Ensembl chr 7:41,238,175...41,247,921 		JBrowse link
G HORMAD1 HORMA domain containing 1 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr17:59,860,527...59,883,031
Ensembl chr17:59,860,934...59,882,980 		JBrowse link
G IL6R interleukin 6 receptor ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 7:42,877,731...42,920,149
Ensembl chr 7:42,880,885...42,920,090 		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 7:43,403,136...43,410,378
Ensembl chr 7:43,403,222...43,410,375 		JBrowse link
G INSRR insulin receptor related receptor ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 7:41,161,036...41,176,739
Ensembl chr 7:41,161,333...41,175,940 		JBrowse link
G INTS3 integrator complex subunit 3 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 7:43,325,522...43,361,669
Ensembl chr 7:43,326,315...43,361,362 		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 7:41,384,539...41,420,529
Ensembl chr 7:41,382,994...41,419,742 		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 7:41,258,140...41,263,635
Ensembl chr 7:41,258,750...41,263,003 		JBrowse link
G IVL involucrin ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr17:61,714,470...61,716,961 JBrowse link
G JTB jumping translocation breakpoint ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 7:43,159,164...43,161,907 JBrowse link
G KCNN3 potassium calcium-activated channel subfamily N member 3 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 7:42,562,500...42,704,862
Ensembl chr 7:42,572,432...42,698,047 		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 7:41,875,837...41,893,819
Ensembl chr 7:41,875,652...41,894,572 		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 chr17:61,541,989...61,543,947
Ensembl chr17:61,541,477...61,543,761 		JBrowse link
G KPRP keratinocyte proline rich protein ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr17:61,544,787...61,575,610
Ensembl chr17:61,573,127...61,574,902 		JBrowse link
G KRTCAP2 keratinocyte associated protein 2 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 7:42,354,793...42,357,596
Ensembl chr 7:42,354,040...42,357,600 		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 7:41,760,632...41,764,926
Ensembl chr 7:41,760,638...41,763,299 		JBrowse link
G LCE6A late cornified envelope 6A ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr17:61,653,363...61,654,514 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 chr17:61,927,443...61,929,285 JBrowse link
G LENEP lens epithelial protein ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 7:42,487,902...42,488,901
Ensembl chr 7:42,488,363...42,488,548 		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 chr17:60,814,948...60,820,517
Ensembl chr17:60,815,499...60,817,448 		JBrowse link
G LMNA lamin A/C ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 7:41,702,491...41,719,870
Ensembl chr 7:41,508,450...41,746,931 		JBrowse link
G LOC100685649 cornifin-A ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr17:61,794,303...61,796,053 JBrowse link
G LOC102156046 protein S100-A15A-like ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 7:43,503,226...43,537,485 JBrowse link
G LOC119863999 hornerin-like ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532
G LOC483211 filaggrin-2 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr17:61,311,558...61,323,059 JBrowse link
G LOC490422 GON-4-like protein ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 7:41,927,667...42,000,649 JBrowse link
G LORICRIN loricrin cornified envelope precursor protein ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr17:61,994,297...61,995,591 JBrowse link
G LYSMD1 LysM domain containing 1 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr17:60,222,628...60,230,967
Ensembl chr17:60,223,347...60,230,821 		JBrowse link
G MCL1 MCL1 apoptosis regulator, BCL2 family member ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr17:59,759,605...59,763,111
Ensembl chr17:59,759,605...59,763,111 		JBrowse link
G MEF2D myocyte enhancer factor 2D ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 7:41,455,771...41,473,807
Ensembl chr 7:41,458,514...41,470,197 		JBrowse link
G METTL25B methyltransferase like 25B ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 7:41,251,838...41,258,130
Ensembl chr 7:41,245,628...41,257,937 		JBrowse link
G MEX3A mex-3 RNA binding family member A ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 7:41,742,777...41,749,730
Ensembl chr 7:41,742,785...41,747,628 		JBrowse link
G MINDY1 MINDY lysine 48 deubiquitinase 1 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr17:60,092,245...60,103,797
Ensembl chr17:60,094,702...60,103,307 		JBrowse link
G MLLT11 MLLT11 transcription factor 7 cofactor ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr17:60,142,411...60,153,650
Ensembl chr17:60,152,378...60,152,650 		JBrowse link
G MRPL24 mitochondrial ribosomal protein L24 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 7:41,248,851...41,251,878
Ensembl chr 7:41,249,992...41,251,879 		JBrowse link
G MRPL9 mitochondrial ribosomal protein L9 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr17:60,782,975...60,787,313 JBrowse link
G MRPS21 mitochondrial ribosomal protein S21 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr17:59,534,732...59,543,449
Ensembl chr17:59,534,859...59,543,027 		JBrowse link
G MSTO1 misato mitochondrial distribution and morphology regulator 1 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 7:42,000,141...42,003,941
Ensembl chr 7:42,000,092...42,003,891 		JBrowse link
G MTMR11 myotubularin related protein 11 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr17:59,214,794...59,223,953
Ensembl chr17:59,214,986...59,222,972 		JBrowse link
G MTX1 metaxin 1 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 7:42,322,755...42,327,918
Ensembl chr 7:42,322,762...42,328,701 		JBrowse link
G MUC1 mucin 1, cell surface associated ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 7:42,338,939...42,344,690
Ensembl chr 7:42,340,375...42,344,690 		JBrowse link
G NAXE NAD(P)HX epimerase ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 7:41,367,248...41,369,733
Ensembl chr 7:41,367,275...41,369,862 		JBrowse link
G NES nestin ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 7:41,296,395...41,305,641
Ensembl chr 7:41,295,989...41,303,736 		JBrowse link
G NPR1 natriuretic peptide receptor 1 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 7:43,382,246...43,396,464
Ensembl chr 7:43,283,418...43,396,027 		JBrowse link
G NTRK1 neurotrophic receptor tyrosine kinase 1 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 7:41,140,931...41,159,326
Ensembl chr 7:41,140,879...41,159,288 		JBrowse link
G NUP210L nucleoporin 210 like ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 7:43,068,259...43,149,202
Ensembl chr 7:43,068,341...43,161,853 		JBrowse link
G OAZ3 ornithine decarboxylase antizyme 3 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr17:60,789,541...60,792,954
Ensembl chr17:60,786,963...60,792,954 		JBrowse link
G OTUD7B OTU deubiquitinase 7B ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr17:59,225,640...59,280,875
Ensembl chr17:59,229,362...59,280,934 		JBrowse link
G PAQR6 progestin and adipoQ receptor family member 6 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 7:41,625,759...41,629,995
Ensembl chr 7:41,628,458...41,629,383 		JBrowse link
G PBXIP1 PBX homeobox interacting protein 1 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 7:42,514,306...42,524,056
Ensembl chr 7:42,514,423...42,523,585 		JBrowse link
G PI4KB phosphatidylinositol 4-kinase beta ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr17:60,359,545...60,386,093
Ensembl chr17:60,360,236...60,384,778 		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 chr17:60,257,017...60,295,866
Ensembl chr17:60,257,332...60,295,866 		JBrowse link
G PKLR pyruvate kinase L/R ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 7:42,263,899...42,272,770
Ensembl chr 7:42,263,761...42,272,755 		JBrowse link
G PLEKHO1 pleckstrin homology domain containing O1 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr17:59,402,758...59,411,906
Ensembl chr17:59,402,834...59,411,788 		JBrowse link
G PMVK phosphomevalonate kinase ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 7:42,532,968...42,563,618
Ensembl chr 7:42,533,217...42,540,625 		JBrowse link
G POGZ pogo transposable element derived with ZNF domain ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr17:60,464,609...60,511,735
Ensembl chr17:60,465,230...60,511,934 		JBrowse link
G PRCC proline rich mitotic checkpoint control factor ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 7:41,200,398...41,225,494
Ensembl chr 7:41,200,411...41,226,186 		JBrowse link
G PRPF3 pre-mRNA processing factor 3 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr17:59,552,227...59,577,027
Ensembl chr17:59,552,340...59,577,009 		JBrowse link
G PRR9 proline rich 9 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr17:61,938,089...61,939,857
Ensembl chr17:61,938,737...61,939,063 		JBrowse link
G PRUNE1 prune exopolyphosphatase 1 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr17:60,104,724...60,125,899
Ensembl chr17:60,104,958...60,124,900 		JBrowse link
G PSMB4 proteasome 20S subunit beta 4 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr17:60,461,208...60,463,604
Ensembl chr17:60,461,240...60,463,594 		JBrowse link
G PSMD4 proteasome 26S subunit ubiquitin receptor, non-ATPase 4 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr17:60,306,134...60,313,610
Ensembl chr17:60,306,229...60,313,610 		JBrowse link
G PYGO2 pygopus family PHD finger 2 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 7:42,509,760...42,513,744
Ensembl chr 7:42,509,968...42,512,091 		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 7:43,152,903...43,156,720
Ensembl chr 7:43,153,002...43,156,720 		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 7:41,752,975...41,758,954
Ensembl chr 7:41,752,975...41,758,906 		JBrowse link
G RFX5 regulatory factor X5 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr17:60,393,773...60,400,150
Ensembl chr17:60,395,321...60,400,009 		JBrowse link
G RHBG Rh family B glycoprotein ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 7:41,532,266...41,548,523
Ensembl chr 7:41,538,214...41,566,057 		JBrowse link
G RIIAD1 regulatory subunit of type II PKA R-subunit domain containing 1 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr17:60,753,380...60,759,713
Ensembl chr17:60,753,092...60,759,733 		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 7:41,894,726...41,903,450
Ensembl chr 7:41,895,330...41,901,173 		JBrowse link
G RORC RAR related orphan receptor C ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr17:60,821,498...60,842,485
Ensembl chr17:60,821,981...60,842,453 		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 chr17:59,587,157...59,676,885
Ensembl chr17:59,587,157...59,672,964 		JBrowse link
G RPS27 ribosomal protein S27 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 7:43,149,465...43,150,658
Ensembl chr 7:43,067,161...43,309,293 		JBrowse link
G RPTN repetin ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr17:61,133,204...61,136,828
Ensembl chr17:61,133,204...61,136,844 		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 7:42,232,791...42,240,862
Ensembl chr 7:42,233,156...42,241,345 		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 7:43,428,819...43,432,637
Ensembl chr 7:43,428,820...43,433,459 		JBrowse link
G S100A10 S100 calcium binding protein A10 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr17:60,984,138...60,994,915 JBrowse link
G S100A11 S100 calcium binding protein A11 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr17:61,020,136...61,050,513 JBrowse link
G S100A12 S100 calcium binding protein A12 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 7:43,554,078...43,555,470
Ensembl chr 7:43,554,146...43,555,475 		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 7:43,428,538...43,442,052
Ensembl chr 7:43,433,253...43,447,513 		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 7:43,443,073...43,446,416
Ensembl chr 7:43,444,396...43,446,287 		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 7:43,447,422...43,452,625
Ensembl chr 7:43,447,494...43,452,130 		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 7:43,473,788...43,482,073
Ensembl chr 7:43,471,753...43,482,105 		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 7:43,490,128...43,492,383 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 7:43,494,007...43,496,021 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 7:43,497,738...43,501,010
Ensembl chr 7:43,491,466...43,500,936 		JBrowse link
G S100A6 S100 calcium binding protein A6 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 7:43,501,430...43,503,100
Ensembl chr 7:43,501,989...43,541,604 		JBrowse link
G S100A8 S100 calcium binding protein A8 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 7:43,540,667...43,541,604
Ensembl chr 7:43,501,989...43,541,604 		JBrowse link
G S100A9 S100 calcium binding protein A9 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 7:43,566,993...43,570,074 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 7:42,294,764...42,299,097 JBrowse link
G SCNM1 sodium channel modifier 1 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr17:60,231,034...60,233,349
Ensembl chr17:60,231,104...60,233,337 		JBrowse link
G SELENBP1 selenium binding protein 1 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr17:60,410,727...60,418,770
Ensembl chr17:60,410,734...60,418,704 		JBrowse link
G SEMA4A semaphorin 4A ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 7:41,670,814...41,695,349
Ensembl chr 7:41,672,120...41,692,460 		JBrowse link
G SEMA6C semaphorin 6C ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr17:60,195,798...60,208,630
Ensembl chr17:60,195,785...60,208,630 		JBrowse link
G SETDB1 SET domain bifurcated histone lysine methyltransferase 1 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr17:60,035,819...60,069,721
Ensembl chr17:60,037,379...60,069,551 		JBrowse link
G SF3B4 splicing factor 3b subunit 4 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr17:59,208,989...59,214,643
Ensembl chr17:59,208,990...59,213,991 		JBrowse link
G SH2D2A SH2 domain containing 2A ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 7:41,186,721...41,195,987
Ensembl chr 7:41,186,252...41,195,122 		JBrowse link
G SHC1 SHC adaptor protein 1 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 7:42,501,829...42,509,613
Ensembl chr 7:42,500,185...42,508,276 		JBrowse link
G SHE Src homology 2 domain containing E ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 7:42,853,116...42,869,293
Ensembl chr 7:42,853,083...42,867,858 		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 7:41,630,868...41,665,894
Ensembl chr 7:41,630,098...41,665,791 		JBrowse link
G SLC27A3 solute carrier family 27 member 3 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 7:43,321,059...43,325,766
Ensembl chr 7:43,321,130...43,325,089 		JBrowse link
G SLC39A1 solute carrier family 39 member 1 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 7:43,171,219...43,174,876
Ensembl chr 7:43,171,287...43,174,036 		JBrowse link
G SLC50A1 solute carrier family 50 member 1 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 7:42,370,031...42,372,390
Ensembl chr 7:42,370,299...42,372,322 		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 chr17:61,694,605...61,699,122
Ensembl chr17:61,694,605...61,699,225 		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 7:41,598,111...41,624,575
Ensembl chr 7:41,598,104...41,624,575 		JBrowse link
G SNAPIN SNAP associated protein ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 7:43,410,554...43,411,929
Ensembl chr 7:43,410,998...43,412,323 		JBrowse link
G SNX27 sorting nexin 27 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr17:60,653,719...60,727,928
Ensembl chr17:60,653,732...60,724,253 		JBrowse link
G SSR2 signal sequence receptor subunit 2 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 7:41,790,289...41,801,438
Ensembl chr 7:41,795,565...41,801,421 		JBrowse link
G SYT11 synaptotagmin 11 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 7:41,910,102...41,929,020
Ensembl chr 7:41,912,920...41,929,617 		JBrowse link
G TARS2 threonyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr17:59,681,889...59,695,747
Ensembl chr17:59,681,936...59,695,746 		JBrowse link
G TCHH trichohyalin ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr17:61,095,132...61,102,663 JBrowse link
G TCHHL1 trichohyalin like 1 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr17:61,077,129...61,081,240
Ensembl chr17:61,077,944...61,081,233 		JBrowse link
G TDRKH tudor and KH domain containing ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr17:60,794,937...60,807,852
Ensembl chr17:60,795,813...60,805,449 		JBrowse link
G THBS3 thrombospondin 3 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 7:42,327,899...42,338,177
Ensembl chr 7:42,328,592...42,338,171 		JBrowse link
G THEM4 thioesterase superfamily member 4 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr17:60,889,245...60,924,848
Ensembl chr17:60,891,660...60,925,091 		JBrowse link
G THEM5 thioesterase superfamily member 5 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr17:60,857,348...60,865,789
Ensembl chr17:60,857,350...60,865,579 		JBrowse link
G TMEM79 transmembrane protein 79 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 7:41,591,332...41,597,993
Ensembl chr 7:41,591,848...41,595,816 		JBrowse link
G TMOD4 tropomodulin 4 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr17:60,234,061...60,238,950
Ensembl chr17:60,234,096...60,238,864 		JBrowse link
G TNFAIP8L2 TNF alpha induced protein 8 like 2 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr17:60,219,239...60,222,818
Ensembl chr17:60,221,592...60,222,146 		JBrowse link
G TPM3 tropomyosin 3 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 7:43,039,360...43,067,297
Ensembl chr 7:43,039,382...43,067,296 		JBrowse link
G TRIM46 tripartite motif containing 46 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 7:42,345,506...42,354,667
Ensembl chr 7:42,345,523...42,354,557 		JBrowse link
G TTC24 tetratricopeptide repeat domain 24 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 7:41,372,960...41,381,514 JBrowse link
G TUFT1 tuftelin 1 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr17:60,580,032...60,628,422
Ensembl chr17:60,580,082...60,627,174 		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 7:42,973,598...43,015,007
Ensembl chr 7:42,974,092...43,010,848 		JBrowse link
G UBE2Q1 ubiquitin conjugating enzyme E2 Q1 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 7:42,806,185...42,813,586
Ensembl chr 7:42,806,185...42,814,747 		JBrowse link
G UBQLN4 ubiquilin 4 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 7:41,764,209...41,778,457
Ensembl chr 7:41,764,253...41,777,002 		JBrowse link
G VPS45 vacuolar protein sorting 45 homolog ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:23599270 PMID:23738510 PMID:25640679 More... NCBI chr17:59,327,781...59,402,172
Ensembl chr17:59,327,806...59,397,811 		JBrowse link
G VPS72 vacuolar protein sorting 72 homolog ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr17:60,239,299...60,252,323
Ensembl chr17:60,239,395...60,252,280 		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 7:42,468,376...42,482,219
Ensembl chr 7:42,468,247...42,483,436 		JBrowse link
G ZNF687 zinc finger protein 687 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr17:60,350,753...60,359,542
Ensembl chr17:60,353,847...60,359,619 		JBrowse link
severe congenital neutropenia 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BRK1 BRICK1 subunit of SCAR/WAVE actin nucleating complex ISO ClinVar Annotator: match by term: Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency ClinVar PMID:28492532 NCBI chr20:8,220,109...8,231,337
Ensembl chr20:8,221,575...8,231,258 		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 chr20:8,386,334...8,402,076
Ensembl chr20:8,386,415...8,401,774 		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 chr20:8,333,911...8,342,429 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 chr20:8,297,263...8,316,405
Ensembl chr20:8,297,274...8,315,426 		JBrowse link
G FANCD2 FA complementation group D2 ISO ClinVar Annotator: match by term: Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency ClinVar PMID:28492532 NCBI chr20:8,240,270...8,297,269
Ensembl chr20:8,240,311...8,297,568 		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 chr20:8,236,303...8,239,662
Ensembl chr20:8,236,445...8,239,193 		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 chr20:8,342,622...8,355,996
Ensembl chr20:8,334,345...8,355,387 		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 chr20:8,356,150...8,376,175
Ensembl chr20:8,356,728...8,367,658 		JBrowse link
G JAGN1 jagunal homolog 1 ISO ClinVar Annotator: match by term: Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:25129144 PMID:25741868 PMID:25851723 More... NCBI chr20:8,372,981...8,376,089
Ensembl chr20:8,373,316...8,376,085 		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 chr20:8,325,232...8,333,155
Ensembl chr20:8,328,943...8,332,954 		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 chr20:8,206,616...8,211,347
Ensembl chr20:8,206,616...8,211,323 		JBrowse link
severe congenital neutropenia 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CSF3R colony stimulating factor 3 receptor ISO ClinVar Annotator: match by term: Autosomal recessive severe congenital neutropenia due to CSF3R deficiency OMIM
ClinVar		 PMID:9536098 PMID:10449521 PMID:16199547 PMID:17576681 PMID:23604229 More... NCBI chr15:5,818,985...5,832,455
Ensembl chr15:5,822,025...5,831,882 		JBrowse link
severe congenital neutropenia 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SRP54 signal recognition particle 54 ISO ClinVar Annotator: match by term: Neutropenia, severe congenital, 8, autosomal dominant OMIM
ClinVar		 PMID:28492532 PMID:28972538 PMID:29914977 NCBI chr 8:13,800,275...13,837,799
Ensembl chr 8:13,677,760...13,837,722 		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 family mitochondrial disaggregase ISO ClinVar Annotator: match by term: Neutropenia, severe congenital, 9, autosomal dominant OMIM
ClinVar		 PMID:28492532 PMID:34115842 NCBI chr21:25,710,634...25,855,418
Ensembl chr21:25,710,723...25,852,857 		JBrowse link
WHIM syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CXCR4 C-X-C motif chemokine receptor 4 ISO ClinVar Annotator: match by term: WHIM syndrome 1 | ClinVar Annotator: match by term: Warts, hypogammaglobulinemia, infections, and myelokathexis OMIM
ClinVar		 PMID:12692554 PMID:15026312 PMID:15536153 PMID:16275383 PMID:16899028 More... NCBI chr19:38,874,650...38,877,740
Ensembl chr19:38,874,145...38,877,740 		JBrowse link
G DARS1 aspartyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Warts, hypogammaglobulinemia, infections, and myelokathexis ClinVar PMID:28492532 NCBI chr19:38,690,170...38,751,360
Ensembl chr19:38,668,527...38,751,310 		JBrowse link
G LCT lactase ISO ClinVar Annotator: match by term: Warts, hypogammaglobulinemia, infections, and myelokathexis ClinVar PMID:28492532 NCBI chr19:38,571,539...38,620,567
Ensembl chr19:38,572,058...38,620,567 		JBrowse link
G MCM6 minichromosome maintenance complex component 6 ISO ClinVar Annotator: match by term: Warts, hypogammaglobulinemia, infections, and myelokathexis ClinVar PMID:28492532 NCBI chr19:38,627,154...38,660,312
Ensembl chr19:38,627,183...38,660,280 		JBrowse link
G MIR128-1 microRNA mir-128-1 ISO ClinVar Annotator: match by term: Warts, hypogammaglobulinemia, infections, and myelokathexis ClinVar PMID:28492532 NCBI chr19:38,435,956...38,436,011 JBrowse link
G R3HDM1 R3H domain containing 1 ISO ClinVar Annotator: match by term: Warts, hypogammaglobulinemia, infections, and myelokathexis ClinVar PMID:28492532 NCBI chr19:38,302,731...38,501,678
Ensembl chr19:38,356,065...38,500,689 		JBrowse link
G RAB3GAP1 RAB3 GTPase activating protein catalytic subunit 1 ISO ClinVar Annotator: match by term: Warts, hypogammaglobulinemia, infections, and myelokathexis ClinVar PMID:28492532 NCBI chr19:37,861,844...38,006,433
Ensembl chr19:37,861,804...37,963,501 		JBrowse link
G UBXN4 UBX domain protein 4 ISO ClinVar Annotator: match by term: Warts, hypogammaglobulinemia, infections, and myelokathexis ClinVar PMID:28492532 NCBI chr19:38,519,778...38,568,760
Ensembl chr19:38,519,773...38,568,254 		JBrowse link
G ZRANB3 zinc finger RANBP2-type containing 3 ISO ClinVar Annotator: match by term: Warts, hypogammaglobulinemia, infections, and myelokathexis ClinVar PMID:28492532 NCBI chr19:38,003,273...38,302,598
Ensembl chr19:37,957,421...38,301,888 		JBrowse link
WHIM Syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CXCR2 C-X-C motif chemokine receptor 2 ISO ClinVar Annotator: match by term: WHIM syndrome 2 OMIM
ClinVar		 PMID:24777453 PMID:25741868 NCBI chr37:24,831,351...24,846,387
Ensembl chr37:24,843,171...24,844,247 		JBrowse link
X-linked dyserythropoietic anemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GATA1 GATA binding protein 1 ISO ClinVar Annotator: match by term: ANEMIA, X-LINKED, WITH OR WITHOUT NEUTROPENIA AND/OR PLATELET ABNORMALITIES OMIM
ClinVar		 PMID:871527 PMID:11809723 PMID:12200364 PMID:14691578 PMID:15895080 More... NCBI chr  X:41,991,321...41,998,319
Ensembl chr  X:41,971,582...41,998,303 		JBrowse link
X-linked severe congenital neutropenia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AKAP4 A-kinase anchoring protein 4 ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:28492532 NCBI chr  X:42,935,831...42,946,248
Ensembl chr  X:42,935,815...42,946,149 		JBrowse link
G ARAF A-Raf proto-oncogene, serine/threonine kinase ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:8530058 PMID:9476131 PMID:10698340 PMID:10909851 PMID:12969986 More... NCBI chr  X:41,180,082...41,191,579
Ensembl chr  X:41,180,250...41,191,310 		JBrowse link
G BMP15 bone morphogenetic protein 15 ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:28492532 NCBI chr  X:43,765,126...43,771,277
Ensembl chr  X:43,764,777...43,771,287 		JBrowse link
G CACNA1F calcium voltage-gated channel subunit alpha1 F ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:28492532 NCBI chr  X:42,302,971...42,327,787
Ensembl chr  X:42,303,158...42,326,774 		JBrowse link
G CCDC120 coiled-coil domain containing 120 ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:28492532 NCBI chr  X:42,206,553...42,217,607
Ensembl chr  X:42,210,804...42,216,993 		JBrowse link
G CCDC22 coiled-coil domain containing 22 ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:28492532 NCBI chr  X:42,329,320...42,343,270
Ensembl chr  X:42,328,755...42,343,270 		JBrowse link
G CCNB3 cyclin B3 ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:28492532 NCBI chr  X:42,951,030...43,041,616
Ensembl chr  X:42,949,558...43,012,122 		JBrowse link
G CDK16 cyclin dependent kinase 16 ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:8530058 PMID:9476131 PMID:10698340 PMID:10909851 PMID:12969986 More... NCBI chr  X:40,810,107...40,822,130
Ensembl chr  X:40,810,500...40,842,700 		JBrowse link
G CFP complement factor properdin ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:8530058 PMID:9476131 PMID:10698340 PMID:10909851 PMID:12969986 More... NCBI chr  X:41,245,868...41,252,194
Ensembl chr  X:41,245,905...41,251,623 		JBrowse link
G CLCN5 chloride voltage-gated channel 5 ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:28492532 NCBI chr  X:42,705,789...42,860,701
Ensembl chr  X:42,704,627...42,853,812 		JBrowse link
G DGKK diacylglycerol kinase kappa ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:28492532 NCBI chr  X:43,041,721...43,229,431
Ensembl chr  X:43,044,242...43,230,590 		JBrowse link
G ELANE elastase, neutrophil expressed ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:24033266 NCBI chr20:57,789,044...57,790,932
Ensembl chr20:57,788,062...57,790,932 		JBrowse link
G ELK1 ETS transcription factor ELK1 ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:8530058 PMID:9476131 PMID:10698340 PMID:10909851 PMID:12969986 More... NCBI chr  X:41,256,205...41,270,656
Ensembl chr  X:41,257,482...41,270,776 		JBrowse link
G ERAS ES cell expressed Ras ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:28492532 NCBI chr  X:42,024,867...42,029,649
Ensembl chr  X:42,028,711...42,029,412 		JBrowse link
G FOXP3 forkhead box P3 ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:28492532 NCBI chr  X:42,331,229...42,362,841
Ensembl chr  X:42,344,108...42,350,758 		JBrowse link
G FTSJ1 FtsJ RNA 2'-O-methyltransferase 1 ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:8530058 PMID:9476131 PMID:10698340 PMID:10909851 PMID:12969986 More... NCBI chr  X:41,725,101...41,734,533
Ensembl chr  X:41,725,130...41,734,378 		JBrowse link
G GATA1 GATA binding protein 1 ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:28492532 NCBI chr  X:41,991,321...41,998,319
Ensembl chr  X:41,971,582...41,998,303 		JBrowse link
G GLOD5 glyoxalase domain containing 5 ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:28492532 NCBI chr  X:41,967,674...41,979,241
Ensembl chr  X:41,967,812...41,979,243 		JBrowse link
G GPKOW G-patch domain and KOW motifs ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:28492532 NCBI chr  X:42,248,121...42,266,747
Ensembl chr  X:42,248,611...42,257,286 		JBrowse link
G GRIPAP1 GRIP1 associated protein 1 ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:28492532 NCBI chr  X:42,121,646...42,145,330
Ensembl chr  X:42,121,301...42,145,218 		JBrowse link
G HDAC6 histone deacetylase 6 ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:28492532 NCBI chr  X:42,004,268...42,024,726
Ensembl chr  X:42,004,591...42,024,427 		JBrowse link
G JADE3 jade family PHD finger 3 ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:8530058 PMID:9476131 PMID:10698340 PMID:10909851 PMID:12969986 More... NCBI chr  X:40,545,474...40,682,593
Ensembl chr  X:40,521,569...40,680,536 		JBrowse link
G KCND1 potassium voltage-gated channel subfamily D member 1 ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:28492532 NCBI chr  X:42,111,817...42,119,939
Ensembl chr  X:42,111,837...42,118,375 		JBrowse link
G LOC612524 putative protein SSX6 ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:8530058 PMID:9476131 PMID:10698340 PMID:10909851 PMID:12969986 More... NCBI chr  X:41,676,082...41,687,062 JBrowse link
G LOC612555 MAGI family member, X-linked ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:28492532 NCBI chr  X:42,267,054...42,269,303
Ensembl chr  X:42,266,715...42,269,300 		JBrowse link
G MIR502 microRNA mir-502 ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:28492532 NCBI chr  X:42,785,601...42,785,659
Ensembl chr  X:42,785,587...42,785,666 		JBrowse link
G MIR532 microRNA mir-532 ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:28492532 NCBI chr  X:42,774,680...42,774,738
Ensembl chr  X:42,774,680...42,774,738 		JBrowse link
G NDUFB11 NADH:ubiquinone oxidoreductase subunit B11 ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:8530058 PMID:9476131 PMID:10698340 PMID:10909851 PMID:12969986 More... NCBI chr  X:40,744,408...40,746,831
Ensembl chr  X:40,744,408...40,746,837 		JBrowse link
G NUDT11 nudix hydrolase 11 ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:28492532 NCBI chr  X:43,916,315...43,923,410 JBrowse link
G OTUD5 OTU deubiquitinase 5 ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:28492532 NCBI chr  X:42,079,396...42,109,129
Ensembl chr  X:42,081,561...42,108,612 		JBrowse link
G PCSK1N proprotein convertase subtilisin/kexin type 1 inhibitor ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:28492532 NCBI chr  X:42,030,708...42,036,363
Ensembl chr  X:41,962,524...42,036,586 		JBrowse link
G PIM2 Pim-2 proto-oncogene, serine/threonine kinase ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:28492532 NCBI chr  X:42,072,495...42,077,741
Ensembl chr  X:42,073,457...42,077,543 		JBrowse link
G PLP2 proteolipid protein 2 ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:28492532 NCBI chr 7:66,830,421...66,861,046 JBrowse link
G PORCN porcupine O-acyltransferase ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:8530058 PMID:9476131 PMID:10698340 PMID:10909851 PMID:12969986 More... NCBI chr  X:41,774,857...41,779,474
Ensembl chr  X:41,762,692...41,779,476 		JBrowse link
G PORCN porcupine O-acyltransferase ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:8530058 PMID:9476131 PMID:10698340 PMID:10909851 PMID:12969986 More... NCBI chr  X:41,763,126...41,773,892
Ensembl chr  X:41,762,692...41,779,476 		JBrowse link
G PPP1R3F protein phosphatase 1 regulatory subunit 3F ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:28492532 NCBI chr  X:42,362,335...42,378,480
Ensembl chr  X:42,362,370...42,378,012 		JBrowse link
G PQBP1 polyglutamine binding protein 1 ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:28492532 NCBI chr  X:42,056,660...42,060,508
Ensembl chr  X:42,056,708...42,121,818 		JBrowse link
G PRAF2 PRA1 domain family member 2 ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:28492532 NCBI chr  X:42,218,038...42,221,075
Ensembl chr  X:42,218,046...42,226,422 		JBrowse link
G PRICKLE3 prickle planar cell polarity protein 3 ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:28492532 NCBI chr  X:42,276,316...42,285,428
Ensembl chr  X:42,275,900...42,285,321 		JBrowse link
G RBM10 RNA binding motif protein 10 ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:8530058 PMID:9476131 PMID:10698340 PMID:10909851 PMID:12969986 More... NCBI chr  X:40,746,959...40,776,764
Ensembl chr  X:40,747,178...40,776,742 		JBrowse link
G RBM3 RNA binding motif protein 3 ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:8530058 PMID:9476131 PMID:10698340 PMID:10909851 PMID:12969986 More... NCBI chr  X:41,806,072...41,809,803
Ensembl chr  X:41,806,176...41,809,481 		JBrowse link
G RGN regucalcin ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:8530058 PMID:9476131 PMID:10698340 PMID:10909851 PMID:12969986 More... NCBI chr  X:40,697,292...40,715,491
Ensembl chr  X:40,698,768...40,715,490 		JBrowse link
G RP2 RP2 activator of ARL3 GTPase ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:8530058 PMID:9476131 PMID:10698340 PMID:10909851 PMID:12969986 More... NCBI chr  X:40,472,525...40,525,726
Ensembl chr  X:40,472,596...40,524,883 		JBrowse link
G SHROOM4 shroom family member 4 ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:28492532 NCBI chr  X:43,366,921...43,639,525
Ensembl chr  X:43,369,472...43,639,302 		JBrowse link
G SLC35A2 solute carrier family 35 member A2 ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:28492532 NCBI chr  X:42,060,568...42,071,330
Ensembl chr  X:42,052,781...42,071,012 		JBrowse link
G SLC38A5 solute carrier family 38 member 5 ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:8530058 PMID:9476131 PMID:10698340 PMID:10909851 PMID:12969986 More... NCBI chr  X:41,709,441...41,718,702
Ensembl chr  X:41,709,467...41,717,080 		JBrowse link
G SLC9A7 solute carrier family 9 member A7 ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:8530058 PMID:9476131 PMID:10698340 PMID:10909851 PMID:12969986 More... NCBI chr  X:40,240,169...40,389,167
Ensembl chr  X:40,245,654...40,389,423 		JBrowse link
G SUV39H1 SUV39H1 histone lysine methyltransferase ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:28492532 NCBI chr  X:41,894,623...41,907,854
Ensembl chr  X:41,893,045...41,906,403 		JBrowse link
G SYN1 synapsin I ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:8530058 PMID:9476131 PMID:10698340 PMID:10909851 PMID:12969986 More... NCBI chr  X:41,191,571...41,241,557
Ensembl chr  X:41,191,571...41,241,640 		JBrowse link
G SYP synaptophysin ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:28492532 NCBI chr  X:42,288,071...42,301,802
Ensembl chr  X:42,288,148...42,299,487 		JBrowse link
G TBC1D25 TBC1 domain family member 25 ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:8530058 PMID:9476131 PMID:10698340 PMID:10909851 PMID:12969986