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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;   MONDO:0001475;   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, sub-family B (MDR/TAP), member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16950614 PMID:25007187 NCBI chr 9:93,049,955...93,146,469 JBrowse link
G ANKRD11 ankyrin repeat domain containing 11 ISO ClinVar Annotator: match by term: Neutropenia ClinVar NCBI chr 6:455,856...612,878
Ensembl chr 6:455,851...612,868 		JBrowse link
G AP3B1 adaptor related protein complex 3 subunit beta 1 ISO RGD PMID:12125811 RGD:1578409 NCBI chr 2:86,875,922...87,142,722
Ensembl chr 2:86,873,290...87,142,768 		JBrowse link
G ATP6AP1 ATPase H+ transporting accessory protein 1 ISO ClinVar Annotator: match by term: Neutropenia ClinVar PMID:28492532 NCBI chr  X:124,952,532...124,960,344
Ensembl chr  X:124,952,500...124,960,343 		JBrowse link
G C3H16orf92 chromosome 3 C16orf92 homolog ISO ClinVar Annotator: match by term: Neutropenia ClinVar NCBI chr 3:18,222,923...18,223,528 JBrowse link
G C5 complement C5 ISO RGD PMID:10188960 PMID:10516626 RGD:1600665 RGD:5130180 NCBI chr 1:260,995,662...261,088,868
Ensembl chr 1:260,995,668...261,133,483 		JBrowse link
G C5AR1 complement C5a receptor 1 ISO RGD PMID:10516626 RGD:5130180 NCBI chr 6:53,097,162...53,111,563
Ensembl chr 6:53,097,142...53,111,565 		JBrowse link
G CCNQ cyclin Q ISO ClinVar Annotator: match by term: Neutropenia ClinVar PMID:28492532 NCBI chr  X:124,361,003...124,370,072
Ensembl chr  X:124,361,006...124,369,867 		JBrowse link
G CFB complement factor B ISO ClinVar Annotator: match by term: Neutropenia ClinVar NCBI chr 7:24,034,077...24,040,523
Ensembl chr 7:24,033,740...24,041,179 		JBrowse link
G CHD1L chromodomain helicase DNA binding protein 1 like ISO ClinVar Annotator: match by term: Neutropenia ClinVar NCBI chr 4:100,264,963...100,425,728
Ensembl chr 4:100,264,968...100,425,692 		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 chr 9:6,836,367...7,089,896
Ensembl chr 9:6,836,390...6,981,892 		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 chr 2:134,354,724...134,357,155
Ensembl chr 2:134,354,724...134,357,155 		JBrowse link
G CSF3 colony stimulating factor 3 ISO CTD Direct Evidence: marker/mechanism|therapeutic CTD
RGD		 PMID:7524159 PMID:7529132 PMID:7543699 PMID:7688884 PMID:9740541 More... RGD:11039039 NCBI chr12:22,333,445...22,335,949
Ensembl chr12:22,333,449...22,338,753 		JBrowse link
G DPYD dihydropyrimidine dehydrogenase ISO CTD Direct Evidence: marker/mechanism CTD PMID:12562666 NCBI chr 4:119,931,471...120,712,461
Ensembl chr 4:119,931,414...120,712,459 		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 chr 2:77,513,769...77,516,118
Ensembl chr 2:77,509,344...77,516,027 		JBrowse link
G EPHX1 epoxide hydrolase 1 ISO ClinVar Annotator: match by term: Neutropenia ClinVar NCBI chr10:13,757,489...13,773,071
Ensembl chr10:13,751,881...13,773,072 		JBrowse link
G FCGR2B Fc fragment of IgG, low affinity IIb, receptor (CD32) ISO CTD Direct Evidence: marker/mechanism CTD PMID:10848805 NCBI chr 4:88,873,762...88,892,964 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 4:124,619,887...124,629,638
Ensembl chr 4:124,621,261...124,629,638 		JBrowse link
G HAX1 HCLS1 associated protein X-1 ISO ClinVar Annotator: match by term: Neutropenia ClinVar PMID:28492532 PMID:32581362 NCBI chr 4:95,467,629...95,470,972
Ensembl chr 4:95,467,632...95,470,290 		JBrowse link
G HOXD13 homeobox D13 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27725143 NCBI chr15:81,893,997...81,897,965
Ensembl chr15:81,893,972...81,896,944 		JBrowse link
G JAGN1 jagunal homolog 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25129144 PMID:25129145 NCBI chr13:66,154,855...66,158,329 JBrowse link
G KIF11 kinesin family member 11 ISO ClinVar Annotator: match by term: Neutropenia ClinVar PMID:25741868 PMID:28492532 NCBI chr14:104,125,839...104,177,381
Ensembl chr14:104,125,898...104,177,379 		JBrowse link
G LIMS2 LIM zinc finger domain containing 2 ISO ClinVar Annotator: match by term: Neutropenia ClinVar NCBI chr15:59,672,508...59,709,380
Ensembl chr15:59,672,540...59,709,379 		JBrowse link
G LOC100737977 tumor necrosis factor receptor superfamily member 10B-like ISO CTD Direct Evidence: marker/mechanism CTD PMID:19652058 NCBI chr14:7,344,788...7,371,086 JBrowse link
G LOC110258578 interleukin-1 beta-like ISO CTD Direct Evidence: marker/mechanism CTD PMID:1884014
G MKI67 marker of proliferation Ki-67 ISO protein:increased expression:blood, T cell RGD PMID:22092365 RGD:6483522 NCBI chr14:137,266,622...137,296,312 JBrowse link
G MTHFR methylenetetrahydrofolate reductase ISO CTD Direct Evidence: marker/mechanism CTD PMID:19391036 NCBI chr 6:71,863,637...71,882,118
Ensembl chr 6:71,863,637...71,881,820 		JBrowse link
G NUDT15 nudix hydrolase 15 ISO MouseDO NCBI chr11:19,572,963...19,584,565
Ensembl chr11:19,572,644...19,584,528 		JBrowse link
G NUP98 nucleoporin 98 and 96 precursor ISO CTD Direct Evidence: marker/mechanism CTD PMID:27725143 NCBI chr 9:6,319,616...6,419,652
Ensembl chr 9:6,319,650...6,419,660 		JBrowse link
G PKP3 plakophilin 3 ISO ClinVar Annotator: match by term: Neutropenia ClinVar NCBI chr 2:214,238...222,762
Ensembl chr 2:214,170...223,511 		JBrowse link
G POLR3C RNA polymerase III subunit C ISO ClinVar Annotator: match by term: Neutropenia ClinVar NCBI chr 4:99,480,213...99,494,137
Ensembl chr 4:99,479,372...99,494,142 		JBrowse link
G PTAFR platelet activating factor receptor treatment ISO RGD PMID:3011900 RGD:10043179 NCBI chr 6:85,235,390...85,272,360
Ensembl chr 6:85,235,394...85,261,760 		JBrowse link
G RNF128 ring finger protein 128 ISO ClinVar Annotator: match by term: Neutropenia ClinVar PMID:25741868 NCBI chr  X:87,111,875...87,211,605
Ensembl chr  X:87,111,870...87,211,601 		JBrowse link
G RPS14 ribosomal protein S14 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27725143 NCBI chr 2:151,430,047...151,433,951
Ensembl chr 2:151,430,049...151,433,856 		JBrowse link
G SLC34A1 solute carrier family 34 member 1 ISO ClinVar Annotator: match by term: Neutropenia ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:80,548,208...80,563,380
Ensembl chr 2:80,548,232...80,563,321 		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 chr12:15,091,926...15,101,899
Ensembl chr12:15,091,729...15,101,899 		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 chr 5:21,733,030...21,748,960
Ensembl chr 5:21,733,035...21,751,354 		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 chr12:20,407,316...20,471,091
Ensembl chr12:20,407,233...20,472,992 		JBrowse link
G TLE2 TLE family member 2, transcriptional corepressor ISO ClinVar Annotator: match by term: Neutropenia ClinVar NCBI chr 2:75,510,276...75,536,812
Ensembl chr 2:75,510,004...75,536,804 		JBrowse link
G TMEM63A transmembrane protein 63A ISO ClinVar Annotator: match by term: Neutropenia ClinVar NCBI chr10:13,771,795...13,814,442
Ensembl chr10:13,769,605...13,814,020 		JBrowse link
G TNF tumor necrosis factor ISO RGD PMID:15986200 RGD:1580321 NCBI chr 7:23,699,635...23,702,393
Ensembl chr 7:23,699,628...23,702,416 		JBrowse link
G TPMT thiopurine S-methyltransferase ISO CTD Direct Evidence: marker/mechanism CTD PMID:18662289 NCBI chr 7:13,821,656...13,846,107
Ensembl chr 7:13,820,866...13,846,012 		JBrowse link
G USP3 ubiquitin specific peptidase 3 ISO ClinVar Annotator: match by term: Neutropenia ClinVar NCBI chr 1:108,414,358...108,515,611
Ensembl chr 1:108,415,703...108,515,447 		JBrowse link
G VPS16 VPS16 core subunit of CORVET and HOPS complexes ISO ClinVar Annotator: match by term: Neutropenia ClinVar NCBI chr17:32,803,596...32,825,974
Ensembl chr17:32,803,412...32,825,933 		JBrowse link
G XDH xanthine dehydrogenase ISO ClinVar Annotator: match by term: Neutropenia ClinVar PMID:25741868 PMID:28492532 PMID:30755392 NCBI chr 3:107,987,060...108,052,043
Ensembl chr 3:107,987,126...108,053,169 		JBrowse link
G ZC3H3 zinc finger CCCH-type containing 3 ISO ClinVar Annotator: match by term: Neutropenia ClinVar NCBI chr 4:1,009,927...1,084,133
Ensembl chr 4:1,010,638...1,089,738 		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 | ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIA OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:32313153 PMID:34140661 NCBI chr 9:6,836,367...7,089,896
Ensembl chr 9:6,836,390...6,981,892 		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 chr 9:6,685,934...6,689,913
Ensembl chr 9:6,685,939...6,689,256 		JBrowse link
G ARAP1 ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 9:7,238,043...7,301,085
Ensembl chr 9:7,233,911...7,301,073 		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 chr 9:7,766,701...7,826,513 JBrowse link
G ARRB1 arrestin beta 1 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 9:9,516,944...9,597,446
Ensembl chr 9:9,516,947...9,597,976 		JBrowse link
G ATG16L2 autophagy related 16 like 2 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 9:7,346,973...7,360,189
Ensembl chr 9:7,347,002...7,365,625 		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 chr 9:8,393,610...8,512,843
Ensembl chr 9:8,393,612...8,512,848 		JBrowse link
G CHRDL2 chordin like 2 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 9:9,017,691...9,053,527
Ensembl chr 9:9,017,690...9,053,554 		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 chr 9:6,836,367...7,089,896
Ensembl chr 9:6,836,390...6,981,892 		JBrowse link
G COA4 cytochrome c oxidase assembly factor 4 homolog ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 9:8,278,307...8,281,169
Ensembl chr 9:8,278,311...8,281,153 		JBrowse link
G DHCR7 7-dehydrocholesterol reductase ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 2:2,377,352...2,391,846
Ensembl chr 2:2,377,416...2,391,447 		JBrowse link
G DNAJB13 DnaJ heat shock protein family (Hsp40) member B13 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 9:8,342,207...8,358,617
Ensembl chr 9:8,342,476...8,355,406 		JBrowse link
G FAM168A family with sequence similarity 168 member A ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 9:7,852,347...8,072,011
Ensembl chr 9:7,852,357...8,071,812 		JBrowse link
G FCHSD2 FCH and double SH3 domains 2 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 9:7,366,516...7,619,960
Ensembl chr 9:7,366,523...7,608,469 		JBrowse link
G FOLR1 folate receptor alpha ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 9:6,753,513...6,760,433
Ensembl chr 9:6,757,040...6,760,402 		JBrowse link
G FOLR2 folate receptor 2 (fetal) ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 9:6,785,308...6,790,466
Ensembl chr 9:6,785,303...6,790,465 		JBrowse link
G GDPD5 glycerophosphodiester phosphodiesterase domain containing 5 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 9:9,653,955...9,738,186
Ensembl chr 9:9,653,596...9,740,286 		JBrowse link
G IL18BP interleukin 18 binding protein ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 9:6,586,602...6,596,423
Ensembl chr 9:6,488,808...6,591,333 		JBrowse link
G INPPL1 inositol polyphosphate phosphatase like 1 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 9:6,793,971...6,807,286
Ensembl chr 9:6,793,069...6,808,028 		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 chr 9:8,810,716...8,822,191
Ensembl chr 9:8,810,720...8,822,494 		JBrowse link
G KLHL35 kelch like family member 35 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 9:9,640,460...9,651,924
Ensembl chr 9:9,640,524...9,651,760 		JBrowse link
G LAMTOR1 late endosomal/lysosomal adaptor, MAPK and MTOR activator 1 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 9:6,674,045...6,680,067
Ensembl chr 9:6,672,475...6,680,053 		JBrowse link
G LIPT2 lipoyl(octanoyl) transferase 2 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 9:8,838,375...8,840,607
Ensembl chr 9:8,838,102...8,840,765 		JBrowse link
G LOC100739359 olfactory receptor 2AT4-like ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 9:9,408,186...9,409,148 JBrowse link
G MIR139 microRNA mir-139 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 9:7,175,314...7,175,381
Ensembl chr 9:7,175,308...7,175,385 		JBrowse link
G MIR326 microRNA mir-326 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 9:9,581,944...9,582,034
Ensembl chr 9:9,581,944...9,582,034 		JBrowse link
G MRPL48 mitochondrial ribosomal protein L48 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 9:8,221,641...8,267,251
Ensembl chr 9:8,219,967...8,268,536 		JBrowse link
G NADSYN1 NAD synthetase 1 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 2:2,334,793...2,372,356
Ensembl chr 2:2,334,799...2,372,361 		JBrowse link
G NEU3 neuraminidase 3 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 9:9,315,263...9,333,878
Ensembl chr 9:9,315,334...9,334,918 		JBrowse link
G NUMA1 nuclear mitotic apparatus protein 1 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 9:6,591,943...6,662,966
Ensembl chr 9:6,591,945...6,662,085 		JBrowse link
G P2RY2 purinergic receptor P2Y2 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 9:7,672,294...7,695,085
Ensembl chr 9:7,672,403...7,695,163 		JBrowse link
G P2RY6 pyrimidinergic receptor P2Y6 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 9:7,708,452...7,759,721
Ensembl chr 9:7,749,375...7,759,721 		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 chr 9:8,627,365...8,681,804
Ensembl chr 9:8,627,413...8,667,772 		JBrowse link
G PAAF1 proteasomal ATPase associated factor 1 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 9:8,279,618...8,334,526
Ensembl chr 9:8,278,905...8,335,121 		JBrowse link
G PDE2A phosphodiesterase 2A ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 9:7,136,637...7,227,966
Ensembl chr 9:7,136,644...7,227,964 		JBrowse link
G PGM2L1 phosphoglucomutase 2 like 1 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 9:8,686,976...8,761,721
Ensembl chr 9:8,689,481...8,761,709 		JBrowse link
G PHOX2A paired like homeobox 2A ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 9:6,808,144...6,831,636
Ensembl chr 9:6,807,623...6,812,578 		JBrowse link
G PLEKHB1 pleckstrin homology domain containing B1 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 9:8,103,497...8,117,819
Ensembl chr 9:8,102,056...8,117,815 		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 chr 9:8,906,491...8,956,845
Ensembl chr 9:8,906,462...8,958,318 		JBrowse link
G PPME1 protein phosphatase methylesterase 1 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 9:8,512,791...8,605,273
Ensembl chr 9:8,513,141...8,605,268 		JBrowse link
G RAB6A RAB6A, member RAS oncogene family ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 9:8,137,901...8,199,212
Ensembl chr 9:8,137,672...8,199,079 		JBrowse link
G RELT RELT TNF receptor ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 9:7,833,387...7,852,469
Ensembl chr 9:7,833,419...7,854,496 		JBrowse link
G RNF121 ring finger protein 121 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 9:6,488,756...6,587,426
Ensembl chr 9:6,488,806...6,587,324 		JBrowse link
G RNF169 ring finger protein 169 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 9:9,069,776...9,177,367
Ensembl chr 9:9,069,617...9,173,915 		JBrowse link
G RPS3 ribosomal protein S3 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 9:9,612,939...9,630,404
Ensembl chr 9:9,624,990...9,630,401 		JBrowse link
G SERPINH1 serpin family H member 1 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 9:9,782,939...9,794,485
Ensembl chr 9:9,783,042...9,794,483 		JBrowse link
G SLCO2B1 solute carrier organic anion transporter family member 2B1 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 9:9,433,978...9,474,248
Ensembl chr 9:9,436,492...9,476,662 		JBrowse link
G SPCS2 signal peptidase complex subunit 2 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 9:9,280,517...9,305,606
Ensembl chr 9:9,280,631...9,305,599 		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 chr 9:7,302,811...7,346,703
Ensembl chr 9:7,302,814...7,332,770 		JBrowse link
G TPBGL trophoblast glycoprotein like ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 9:9,502,193...9,507,470 JBrowse link
G UCP2 uncoupling protein 2 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 9:8,358,559...8,364,552
Ensembl chr 9:8,358,025...8,365,547 		JBrowse link
G UCP3 uncoupling protein 3 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 9:8,378,023...8,389,452
Ensembl chr 9:8,378,021...8,386,211 		JBrowse link
G XRRA1 X-ray radiation resistance associated 1 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 9:9,155,703...9,280,693
Ensembl chr 9:9,155,210...9,280,639 		JBrowse link
3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia 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 VII, with cataracts, neurologic involvement and neutropenia ClinVar PMID:9536098 PMID:17576681 PMID:25595726 PMID:25597511 PMID:25741868 More... NCBI chr 9:6,836,367...7,089,896
Ensembl chr 9:6,836,390...6,981,892 		JBrowse link
Chemotherapy-Induced Febrile Neutropenia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACE angiotensin I converting enzyme (peptidyl-dipeptidase A) 1 severity ISO DNA:deletion:intron:IVS16+1464-1751del (human)
associated with acute leukemia;DNA:insertion/deletion:intron 16:		 RGD PMID:15806540 PMID:24819208 RGD:11038917 RGD:11530041 NCBI chr12:15,394,487...15,414,609
Ensembl chr12:15,394,487...15,414,703 		JBrowse link
G CYP3A22 cytochrome P450 family 3 subfamily A member 22 susceptibility ISO associated with breast neoplasm;DNA:polymorphism:splice junction:6986A>G (human) RGD PMID:19332043 RGD:11353804 NCBI chr 3:6,617,256...6,665,179
Ensembl chr 3:6,615,343...6,822,817 		JBrowse link
G FCGR3A Fc fragment of IgG receptor IIIa treatment ISO associated with Lymphoma, Large B-Cell, Diffuse;DNA:SNP: :rs396991 (human) RGD PMID:27282998 RGD:11344967 NCBI chr 4:88,948,357...88,956,513 JBrowse link
G ITPA inosine triphosphatase ISO associated with Precursor Cell Lymphoblastic Leukemia-Lymphoma;DNA:SNP: :rs41320251 (human) RGD PMID:18685564 RGD:10766478 NCBI chr17:32,458,351...32,474,827
Ensembl chr17:32,455,459...32,474,784 		JBrowse link
G LOC100739508 glutathione S-transferase P-like susceptibility ISO DNA:polymorphism: : rs1695(human) RGD PMID:25008867 RGD:10755412 NCBI chr 2:5,005,498...5,009,247 JBrowse link
G MBL2 mannose binding lectin 2 susceptibility
disease progression		 ISO associated with Neoplasms;DNA:SNP,haplotyep:promoter:
associated with Precursor B-Cell Lymphoblastic Leukemia-Lymphoma;DNA:polymorphisms:exon:
associated with leukemia;		 RGD PMID:20930093 PMID:24453114 PMID:24819208 RGD:11530041 RGD:11530043 RGD:11530056 NCBI chr14:97,103,926...97,107,635
Ensembl chr14:97,102,823...97,108,083 		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 chr 5:33,105,717...33,137,602
Ensembl chr 5:33,105,759...33,137,739 		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 chr12:52,939,643...52,953,786
Ensembl chr12:52,939,644...52,953,818 		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 chr 2:77,357,161...77,375,349
Ensembl chr 2:77,357,218...77,375,180 		JBrowse link
G ABHD17A abhydrolase domain containing 17A, depalmitoylase ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr 2:76,658,073...76,666,561
Ensembl chr 2:76,658,068...76,666,552 		JBrowse link
G ADAMTSL5 ADAMTS like 5 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr 2:76,966,155...76,975,555
Ensembl chr 2:76,966,766...76,975,820 		JBrowse link
G ADAT3 adenosine deaminase tRNA specific 3 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr 2:76,628,626...76,634,282
Ensembl chr 2:76,628,633...76,634,262 		JBrowse link
G AP3B1 adaptor related protein complex 3 subunit beta 1 ISO Neutropenia, cyclic OMIA PMID:47249 PMID:127610 PMID:173440 PMID:336117 PMID:347941 More... NCBI chr 2:86,875,922...87,142,722
Ensembl chr 2:86,873,290...87,142,768 		JBrowse link
G AP3D1 adaptor related protein complex 3 subunit delta 1 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr 2:76,428,443...76,471,266
Ensembl chr 2:76,428,476...76,471,257 		JBrowse link
G APC2 APC regulator of WNT signaling pathway 2 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr 2:77,005,706...77,034,583
Ensembl chr 2:77,005,706...77,034,561 		JBrowse link
G ARHGAP45 Rho GTPase activating protein 45 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr 2:77,342,153...77,355,894
Ensembl chr 2:77,342,156...77,356,837 		JBrowse link
G ARID3A AT-rich interaction domain 3A ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr 2:77,428,618...77,464,916
Ensembl chr 2:77,431,087...77,464,628 		JBrowse link
G ATP5F1D ATP synthase F1 subunit delta ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr 2:77,216,430...77,219,301
Ensembl chr 2:77,216,436...77,222,632 		JBrowse link
G ATP8B3 ATPase phospholipid transporting 8B3 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr 2:76,722,257...76,745,899
Ensembl chr 2:76,722,247...76,745,898 		JBrowse link
G AZU1 azurocidin 1 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr 2:77,530,692...77,533,880
Ensembl chr 2:77,530,695...77,533,557 		JBrowse link
G BTBD2 BTB domain containing 2 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr 2:76,538,538...76,559,928
Ensembl chr 2:76,538,523...76,559,919 		JBrowse link
G C2H19orf25 chromosome 2 C19orf25 homolog ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr 2:76,998,982...77,003,332
Ensembl chr 2:76,998,982...77,003,326 		JBrowse link
G CBARP CACN subunit beta associated regulatory protein ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr 2:77,220,790...77,230,418
Ensembl chr 2:77,220,972...77,230,058 		JBrowse link
G CFD complement factor D ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr 2:77,509,792...77,511,988
Ensembl chr 2:77,509,795...77,511,974 		JBrowse link
G CIRBP cold inducible RNA binding protein ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr 2:77,185,295...77,194,373
Ensembl chr 2:77,189,846...77,195,569 		JBrowse link
G CNN2 calponin 2 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr 2:77,376,020...77,385,594
Ensembl chr 2:77,375,983...77,385,571 		JBrowse link
G CSNK1G2 casein kinase 1 gamma 2 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr 2:76,573,979...76,609,631
Ensembl chr 2:76,573,987...76,609,384 		JBrowse link
G DAZAP1 DAZ associated protein 1 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr 2:77,048,890...77,070,565
Ensembl chr 2:77,048,896...77,070,453 		JBrowse link
G EFNA2 ephrin A2 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr 2:77,165,187...77,179,936
Ensembl chr 2:77,165,193...77,179,246 		JBrowse link
G ELANE elastase, neutrophil expressed ISO ClinVar Annotator: match by term: Cyclical neutropenia OMIM
ClinVar		 PMID:3229910 PMID:9536098 PMID:10581030 PMID:11001877 PMID:11278653 More... NCBI chr 2:77,513,769...77,516,118
Ensembl chr 2:77,509,344...77,516,027 		JBrowse link
G FAM174C family with sequence similarity 174 member C ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr 2:77,185,295...77,189,248
Ensembl chr 2:77,185,308...77,188,501 		JBrowse link
G FGF22 fibroblast growth factor 22 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr 2:77,683,252...77,687,276
Ensembl chr 2:77,683,738...77,687,282 		JBrowse link
G FSTL3 follistatin like 3 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr 2:77,656,655...77,662,608
Ensembl chr 2:77,656,663...77,662,613 		JBrowse link
G GAMT guanidinoacetate N-methyltransferase ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr 2:77,076,566...77,079,751
Ensembl chr 2:77,076,566...77,079,759 		JBrowse link
G GPX4 glutathione peroxidase 4 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr 2:77,321,568...77,323,931
Ensembl chr 2:77,320,464...77,323,931 		JBrowse link
G GRIN3B glutamate ionotropic receptor NMDA type subunit 3B ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr 2:77,402,191...77,411,878
Ensembl chr 2:77,401,368...77,412,136 		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 chr 2:77,708,159...77,730,881
Ensembl chr 2:77,708,162...77,730,881 		JBrowse link
G IZUMO4 IZUMO family member 4 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr 2:76,472,227...76,475,227
Ensembl chr 2:76,472,231...76,475,170 		JBrowse link
G KISS1R KISS1 receptor ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr 2:77,472,361...77,479,204
Ensembl chr 2:77,472,362...77,479,204 		JBrowse link
G KLF16 KLF transcription factor 16 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr 2:76,680,219...76,690,823
Ensembl chr 2:76,680,020...76,690,841 		JBrowse link
G MBD3 methyl-CpG binding domain protein 3 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr 2:76,913,880...76,923,435
Ensembl chr 2:76,906,644...76,923,432 		JBrowse link
G MED16 mediator complex subunit 16 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr 2:77,490,953...77,526,872
Ensembl chr 2:77,492,501...77,509,796 		JBrowse link
G MEX3D mex-3 RNA binding family member D ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr 2:76,929,583...76,938,238
Ensembl chr 2:76,929,619...76,938,367 		JBrowse link
G MIDN midnolin ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr 2:77,203,671...77,213,205
Ensembl chr 2:77,204,017...77,211,671 		JBrowse link
G MISP mitotic spindle positioning ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr 2:77,607,185...77,619,124
Ensembl chr 2:77,602,142...77,619,087 		JBrowse link
G MKNK2 MAPK interacting serine/threonine kinase 2 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr 2:76,510,302...76,522,885
Ensembl chr 2:76,510,303...76,522,883 		JBrowse link
G MOB3A MOB kinase activator 3A ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr 2:76,475,397...76,495,015
Ensembl chr 2:76,475,530...76,496,060 		JBrowse link
G NDUFS7 NADH:ubiquinone oxidoreductase core subunit S7 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr 2:77,080,311...77,087,141 JBrowse link
G ONECUT3 one cut homeobox 3 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr 2:76,751,070...76,769,812
Ensembl chr 2:76,750,069...76,769,812 		JBrowse link
G PALM paralemmin ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr 2:77,619,199...77,644,561
Ensembl chr 2:77,619,199...77,644,673 		JBrowse link
G PCSK4 proprotein convertase subtilisin/kexin type 4 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr 2:76,982,806...76,996,507
Ensembl chr 2:76,989,544...76,997,766 		JBrowse link
G PLK5 polo like kinase 5 (inactive) ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr 2:76,948,062...76,956,310 JBrowse link
G PLPPR3 phospholipid phosphatase related 3 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr 2:77,538,925...77,552,046
Ensembl chr 2:77,538,969...77,551,785 		JBrowse link
G POLR2E RNA polymerase II, I and III subunit E ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr 2:77,330,755...77,341,910
Ensembl chr 2:77,330,686...77,341,900 		JBrowse link
G POLRMT RNA polymerase mitochondrial ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr 2:77,694,271...77,708,099
Ensembl chr 2:77,694,266...77,708,096 		JBrowse link
G PRSS57 serine protease 57 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr 2:77,649,741...77,657,627
Ensembl chr 2:77,650,879...77,655,712 		JBrowse link
G PRTN3 proteinase 3 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr 2:77,520,314...77,526,303
Ensembl chr 2:77,520,314...77,523,563 		JBrowse link
G PTBP1 polypyrimidine tract binding protein 1 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr 2:77,551,562...77,563,153
Ensembl chr 2:77,551,562...77,563,134 		JBrowse link
G PWWP3A PWWP domain containing 3A, DNA repair factor ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr 2:77,089,915...77,111,236
Ensembl chr 2:77,089,917...77,111,205 		JBrowse link
G R3HDM4 R3H domain containing 4 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr 2:77,479,259...77,489,106
Ensembl chr 2:77,479,273...77,489,105 		JBrowse link
G REEP6 receptor accessory protein 6 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr 2:76,983,431...76,989,017 JBrowse link
G REXO1 RNA exonuclease 1 homolog ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr 2:76,694,269...76,719,026
Ensembl chr 2:76,693,796...76,718,394 		JBrowse link
G RNF126 ring finger protein 126 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr 2:77,673,302...77,683,312
Ensembl chr 2:77,673,353...77,683,311 		JBrowse link
G RPS15 ribosomal protein S15 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr 2:77,043,329...77,044,749
Ensembl chr 2:77,043,329...77,046,747 		JBrowse link
G SBNO2 strawberry notch homolog 2 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr 2:77,278,059...77,320,371
Ensembl chr 2:77,275,013...77,320,367 		JBrowse link
G SCAMP4 secretory carrier membrane protein 4 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr 2:76,614,984...76,634,314
Ensembl chr 2:76,615,000...76,634,264 		JBrowse link
G STK11 serine/threonine kinase 11 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr 2:77,229,888...77,249,322
Ensembl chr 2:77,230,372...77,249,327 		JBrowse link
G TCF3 transcription factor 3 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr 2:76,859,079...76,906,275
Ensembl chr 2:76,859,089...76,898,351 		JBrowse link
G TMEM259 transmembrane protein 259 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr 2:77,393,577...77,402,266
Ensembl chr 2:77,393,611...77,402,262 		JBrowse link
G UQCR11 ubiquinol-cytochrome c reductase, complex III subunit XI ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr 2:76,903,219...76,906,276
Ensembl chr 2:76,903,281...76,909,544 		JBrowse link
G WDR18 WD repeat domain 18 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr 2:77,417,536...77,423,812
Ensembl chr 2:77,417,539...77,423,485 		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, sub-family B (MDR/TAP), member 1 susceptibility ISO associated with Precursor Cell Lymphoblastic Leukemia-Lymphoma;DNA:SNPs:rs1045642,rs1128503(human)
Breast Neoplasms;DNA:SNP: :3435 C>T(human)
associated with Carcinoma, Non-Small-Cell Lung;DNA:SNP: :2677G>T(human)		 RGD PMID:17534875 PMID:22271208 PMID:25007187 RGD:11080964 RGD:11080979 RGD:11081001 NCBI chr 9:93,049,955...93,146,469 JBrowse link
G ABCC2 ATP binding cassette subfamily C member 2 no_association
susceptibility		 ISO associated with neoplasm;DNA:SNP:rs12762549(human) RGD PMID:18294295 PMID:23188068 RGD:11080980 RGD:11080999 NCBI chr14:110,955,698...111,038,898
Ensembl chr14:110,955,633...111,037,537 		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 chr12:22,333,445...22,335,949
Ensembl chr12:22,333,449...22,338,753 		JBrowse link
G CYP3A22 cytochrome P450 family 3 subfamily A member 22 susceptibility ISO associated with breast neoplasm;DNA:polymorphism:splice junction:6986A>G (human)
associated with Ovarian Neoplasms: DNA:polymorphism: :		 RGD PMID:19332043 PMID:21702053 RGD:11353800 RGD:11353804 NCBI chr 3:6,617,256...6,665,179
Ensembl chr 3:6,615,343...6,822,817 		JBrowse link
G DPYD dihydropyrimidine dehydrogenase treatment
no_association		 ISO DNA:splice-site mutation, missense mutations: :multiple
associated with Colorectal Neoplasms;DNA:SNPs: :rs1801159 (1896T>C), rs17376848 (human)
associated with Neoplasms;DNA:missense mutation: :p.M166V (496A>G) (human)
associated with Neoplasms;DNA:missense mutations: :multiple
associated with Neoplasms;DNA:splice-site mutation:intron:IVS14+1G>A (human)		 RGD PMID:11156223 PMID:12209976 PMID:19473056 PMID:23942539 RGD:11098817 RGD:11251736 RGD:11251737 RGD:11251738 NCBI chr 4:119,931,471...120,712,461
Ensembl chr 4:119,931,414...120,712,459 		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 6:51,783,537...51,808,898
Ensembl chr 6:51,783,478...51,798,984 		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 6:51,734,318...51,757,508
Ensembl chr 6:51,734,320...51,757,553 		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 chr14:89,998,125...90,075,911
Ensembl chr14:90,002,024...90,075,898 		JBrowse link
G FCGR3A Fc fragment of IgG receptor IIIa 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 chr 4:88,948,357...88,956,513 JBrowse link
G IL1A interleukin 1 alpha treatment ISO associated with Carcinoma, Non-Small-Cell Lung RGD PMID:7666093 RGD:11051963 NCBI chr 3:43,718,320...43,731,668
Ensembl chr 3:43,718,368...43,731,119 		JBrowse link
G LOC100739508 glutathione S-transferase P-like susceptibility ISO DNA:SNP:cds:p.I105V (rs1695) (human) RGD PMID:23812950 RGD:10755330 NCBI chr 2:5,005,498...5,009,247 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 chr 5:33,105,717...33,137,602
Ensembl chr 5:33,105,759...33,137,739 		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 6:55,247,799...55,272,087
Ensembl chr 6:55,247,880...55,272,085 		JBrowse link
G SLCO1B2 solute carrier organic anion transporter family member 1B2 susceptibility
no_association		 ISO associated with neoplasm;DNA:SNP:rs11045585(human)
associated with neoplasm;DNA:SNP: rs11045585(human)		 RGD PMID:18294295 PMID:23188068 RGD:11080980 RGD:11080999 NCBI chr 5:52,137,454...52,206,236 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 1:7,679,352...7,689,564
Ensembl chr 1:7,679,352...7,689,560 		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 chr12:52,939,643...52,953,786
Ensembl chr12:52,939,644...52,953,818 		JBrowse link
Febrile Neutropenia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CCL2 chemokine (C-C motif) ligand 2 ISO associated with Hematologic Diseases;protein:increased expression:plasma (human) RGD PMID:23369970 RGD:11528559 NCBI chr12:40,798,109...40,800,013
Ensembl chr12:40,798,109...40,800,026 		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-related condition OMIM
ClinVar		 PMID:205284 PMID:25741868 PMID:27557945 PMID:27994071 PMID:28492532 More... NCBI chr 8:6,413,338...6,452,383
Ensembl chr 8:6,413,347...6,452,346 		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 4:124,619,887...124,629,638
Ensembl chr 4:124,621,261...124,629,638 		JBrowse link
G TERT telomerase reverse transcriptase ISO RGD PMID:22133767 RGD:11038657 NCBI chr16:79,258,591...79,276,421
Ensembl chr16:79,258,591...79,276,421 		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 6:19,852,020...19,874,016
Ensembl chr 6:19,852,014...19,874,020 		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 chr 6:92,550,159...92,565,798
Ensembl chr 6:92,550,161...92,565,477 		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:28652245 More... RGD:10450485 NCBI chr 6:92,550,159...92,565,798
Ensembl chr 6:92,550,161...92,565,477 		JBrowse link
G ELANE elastase, neutrophil expressed ISO DNA:mutation:intron:c.597+1G>A (human)
DNA:mutations: :
mRNA:decreased expression:myeloid CD33+ cell:		 RGD PMID:10581030 PMID:19620402 PMID:21425445 PMID:24616599 RGD:10450514 RGD:10450519 RGD:10450525 RGD:1598891 NCBI chr 2:77,513,769...77,516,118
Ensembl chr 2:77,509,344...77,516,027 		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 chr 2:59,958,122...59,990,511
Ensembl chr 2:59,958,134...59,990,490 		JBrowse link
G G6PC3 glucose-6-phosphatase catalytic subunit 3 ISO ClinVar Annotator: match by term: Severe congenital neutropenia ClinVar NCBI chr12:19,121,540...19,126,291
Ensembl chr12:19,121,544...19,126,295 		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 4:124,619,887...124,629,638
Ensembl chr 4:124,621,261...124,629,638 		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 4:95,467,629...95,470,972
Ensembl chr 4:95,467,632...95,470,290 		JBrowse link
G JAGN1 jagunal homolog 1 ISO ClinVar Annotator: match by term: Severe congenital neutropenia ClinVar PMID:25129144 PMID:25741868 PMID:25851723 PMID:27980538 PMID:28492532 More... NCBI chr13:66,154,855...66,158,329 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 chr 2:4,844,627...4,860,562
Ensembl chr 2:4,844,637...4,860,498 		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: ELANE-related condition | ClinVar Annotator: match by term: Neutropenia, severe congenital, 1, autosomal dominant OMIM
ClinVar		 PMID:3229910 PMID:9536098 PMID:10581030 PMID:11001877 PMID:11278653 More... NCBI chr 2:77,513,769...77,516,118
Ensembl chr 2:77,509,344...77,516,027 		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 chr 2:4,844,627...4,860,562
Ensembl chr 2:4,844,637...4,860,498 		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 chr 4:37,085,929...37,821,159
Ensembl chr 4:37,090,936...37,820,419 		JBrowse link
Severe Congenital Neutropenia 10 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GALR2 galanin receptor 2 ISO ClinVar Annotator: match by term: Neutropenia, severe congenital, 10, autosomal recessive ClinVar PMID:32273475 NCBI chr12:5,360,232...5,364,396
Ensembl chr12:5,359,582...5,363,095 		JBrowse link
G SRP68 signal recognition particle 68 ISO ClinVar Annotator: match by term: Neutropenia, severe congenital, 10, autosomal recessive OMIM
ClinVar		 PMID:32273475 NCBI chr12:5,368,354...5,402,491
Ensembl chr12:5,367,863...5,406,347 		JBrowse link
Severe Congenital Neutropenia 11, Autosomal Dominant term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SEC61A1 SEC61 translocon subunit alpha 1 ISO ClinVar Annotator: match by term: Neutropenia, severe congenital, 11, autosomal dominant OMIM
ClinVar		 PMID:32325141 NCBI chr13:72,254,462...72,276,484
Ensembl chr13:72,254,464...72,269,914 		JBrowse link
severe congenital neutropenia 2 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, 2, autosomal dominant ClinVar PMID:25741868 PMID:28492532 NCBI chr 9:6,836,367...7,089,896
Ensembl chr 9:6,836,390...6,981,892 		JBrowse link
G DIPK1A divergent protein kinase domain 1A ISO ClinVar Annotator: match by term: Neutropenia, severe congenital, 2, autosomal dominant ClinVar PMID:28492532 NCBI chr 4:124,229,414...124,359,339
Ensembl chr 4:124,229,560...124,359,195 		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 4:124,367,778...124,600,585
Ensembl chr 4:124,395,315...124,600,581 		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 4:124,619,887...124,629,638
Ensembl chr 4:124,621,261...124,629,638 		JBrowse link
G RPL5 ribosomal protein L5 ISO ClinVar Annotator: match by term: Neutropenia, severe congenital, 2, autosomal dominant ClinVar PMID:28492532 NCBI chr 4:124,359,786...124,367,612
Ensembl chr 4:124,358,594...124,367,645 		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 4:94,736,639...94,748,093
Ensembl chr 4:94,736,646...94,748,098 		JBrowse link
G ADAMTSL4 ADAMTS like 4 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 4:98,577,813...98,589,255
Ensembl chr 4:98,577,823...98,589,180 		JBrowse link
G ADAR adenosine deaminase RNA specific ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:17187068 PMID:28492532 NCBI chr 4:95,154,230...95,197,308
Ensembl chr 4:95,154,358...95,197,304 		JBrowse link
G ANP32E acidic nuclear phosphoprotein 32 family member E ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 4:98,849,114...98,869,095
Ensembl chr 4:98,849,196...98,869,098 		JBrowse link
G ANXA9 annexin A9 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 4:98,224,436...98,243,957
Ensembl chr 4:98,229,449...98,242,718 		JBrowse link
G APH1A aph-1 homolog A, gamma-secretase subunit ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 4:98,817,574...98,821,255
Ensembl chr 4:98,817,586...98,821,254 		JBrowse link
G AQP10 aquaporin 10 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:17187068 PMID:28492532 NCBI chr 4:95,449,268...95,453,663
Ensembl chr 4:95,450,150...95,453,256 		JBrowse link
G ARHGEF2 Rho/Rac guanine nucleotide exchange factor 2 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 4:94,026,391...94,082,206
Ensembl chr 4:94,026,386...94,080,420 		JBrowse link
G ARNT aryl hydrocarbon receptor nuclear translocator ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 4:98,333,431...98,390,012
Ensembl chr 4:98,333,459...98,389,457 		JBrowse link
G ASH1L ASH1 like histone lysine methyltransferase ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 4:94,297,532...94,484,994
Ensembl chr 4:94,297,616...94,484,990 		JBrowse link
G ATP8B2 ATPase phospholipid transporting 8B2 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:17187068 PMID:28492532 NCBI chr 4:95,426,545...95,449,193
Ensembl chr 4:95,427,943...95,449,188 		JBrowse link
G BCAN brevican ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 4:93,432,331...93,450,895
Ensembl chr 4:93,432,330...93,450,831 		JBrowse link
G BGLAP bone gamma-carboxyglutamate protein ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 4:93,807,703...93,808,806
Ensembl chr 4:93,807,706...93,808,968 		JBrowse link
G BNIPL BCL2 interacting protein like ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 4:98,184,038...98,193,522
Ensembl chr 4:98,183,540...98,193,242 		JBrowse link
G C2CD4D C2 calcium dependent domain containing 4D ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 4:97,367,372...97,369,598
Ensembl chr 4:97,368,453...97,369,514 		JBrowse link
G C4H1orf43 chromosome 4 C1orf43 homolog ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:17187068 PMID:28492532 NCBI chr 4:95,520,003...95,530,856
Ensembl chr 4:95,519,992...95,530,846 		JBrowse link
G C4H1orf54 chromosome 4 C1orf54 homolog ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 4:98,806,352...98,814,627
Ensembl chr 4:98,805,588...98,814,563 		JBrowse link
G C4H1orf56 chromosome 4 C1orf56 homolog ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 4:98,181,069...98,183,333
Ensembl chr 4:98,180,367...98,183,464 		JBrowse link
G CA14 carbonic anhydrase 14 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 4:98,821,577...98,828,934
Ensembl chr 4:98,821,579...98,828,736 		JBrowse link
G CCT3 chaperonin containing TCP1 subunit 3 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 4:93,733,967...93,753,340
Ensembl chr 4:93,733,918...93,753,340 		JBrowse link
G CDC42SE1 CDC42 small effector 1 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 4:98,171,937...98,180,577
Ensembl chr 4:98,164,024...98,180,576 		JBrowse link
G CELF3 CUGBP Elav-like family member 3 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 4:97,513,563...97,535,426
Ensembl chr 4:97,514,224...97,528,481 		JBrowse link
G CERS2 ceramide synthase 2 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 4:98,250,773...98,260,504
Ensembl chr 4:98,250,964...98,260,427 		JBrowse link
G CFAP141 cilia and flagella associated protein 141 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:17187068 PMID:28492532 NCBI chr 4:95,531,141...95,534,752
Ensembl chr 4:95,530,994...95,535,407 		JBrowse link
G CGN cingulin ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 4:97,704,805...97,730,498 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 4:95,196,992...95,211,084
Ensembl chr 4:95,198,717...95,211,037 		JBrowse link
G CHTOP chromatin target of PRMT1 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 4:95,996,030...96,006,511
Ensembl chr 4:95,994,263...96,005,585 		JBrowse link
G CIART circadian associated repressor of transcription ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 4:98,800,849...98,809,573
Ensembl chr 4:98,800,931...98,804,739 		JBrowse link
G CKS1B CDC28 protein kinase regulatory subunit 1B ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 4:94,815,769...94,819,583
Ensembl chr 4:94,815,771...94,819,597 		JBrowse link
G CLK2 CDC like kinase 2 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 4:94,558,220...94,570,084
Ensembl chr 4:94,560,579...94,570,082 		JBrowse link
G CRABP2 cellular retinoic acid binding protein 2 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 4:93,388,198...93,393,861
Ensembl chr 4:93,388,092...93,394,155 		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 4:95,716,530...95,723,959
Ensembl chr 4:95,716,537...95,722,947 		JBrowse link
G CRNN cornulin ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 4:96,933,221...96,938,980
Ensembl chr 4:96,933,287...96,939,662 		JBrowse link
G CRTC2 CREB regulated transcription coactivator 2 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 4:95,734,228...95,745,630
Ensembl chr 4:95,734,299...95,745,629 		JBrowse link
G CTSK cathepsin K ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 4:98,389,459...98,404,969
Ensembl chr 4:98,391,428...98,404,961 		JBrowse link
G CTSS cathepsin S ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 4:98,415,273...98,442,952
Ensembl chr 4:98,417,883...98,442,950 		JBrowse link
G DAP3 death associated protein 3 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 4:94,256,460...94,298,492
Ensembl chr 4:94,262,332...94,297,223 		JBrowse link
G DCST1 DC-STAMP domain containing 1 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 4:94,748,430...94,768,322
Ensembl chr 4:94,748,429...94,768,452 		JBrowse link
G DCST2 DC-STAMP domain containing 2 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 4:94,768,533...94,781,482
Ensembl chr 4:94,768,500...94,780,214 		JBrowse link
G DENND4B DENN domain containing 4B ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 4:95,745,878...95,762,192
Ensembl chr 4:95,748,140...95,761,519 		JBrowse link
G DPM3 dolichyl-phosphate mannosyltransferase subunit 3, regulatory ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 4:94,661,568...94,662,223
Ensembl chr 4:94,661,873...94,662,151 		JBrowse link
G ECM1 extracellular matrix protein 1 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 4:98,615,776...98,633,081
Ensembl chr 4:98,615,778...98,621,836 		JBrowse link
G EFNA1 ephrin A1 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 4:94,666,457...94,673,442
Ensembl chr 4:94,666,460...94,674,071 		JBrowse link
G EFNA3 ephrin A3 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 4:94,709,941...94,719,350
Ensembl chr 4:94,710,647...94,719,248 		JBrowse link
G EFNA4 ephrin A4 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 4:94,730,790...94,735,578
Ensembl chr 4:94,730,792...94,735,559 		JBrowse link
G ENSA endosulfine alpha ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 4:98,527,902...98,535,647
Ensembl chr 4:98,527,907...98,542,959 		JBrowse link
G ENTREP3 endosomal transmembrane epsin interactor 3 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 4:94,575,752...94,581,587
Ensembl chr 4:94,575,793...94,581,585 		JBrowse link
G FDPS farnesyl diphosphate synthase ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 4:94,500,140...94,514,820
Ensembl chr 4:94,500,141...94,518,408 		JBrowse link
G FLAD1 flavin adenine dinucleotide synthetase 1 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 4:94,807,280...94,813,512
Ensembl chr 4:94,807,287...94,813,575 		JBrowse link
G GABPB2 GA binding protein transcription factor subunit beta 2 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 4:98,129,864...98,163,955
Ensembl chr 4:98,133,647...98,163,778 		JBrowse link
G GATAD2B GATA zinc finger domain containing 2B ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 4:95,766,989...95,864,502
Ensembl chr 4:95,766,490...95,864,435 		JBrowse link
G GBA1 glucosylceramidase beta 1 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 4:94,583,905...94,606,689
Ensembl chr 4:94,584,134...94,609,745 		JBrowse link
G GLMP glycosylated lysosomal membrane protein ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 4:93,758,939...93,763,517
Ensembl chr 4:93,758,809...93,763,912 		JBrowse link
G GOLPH3L golgi phosphoprotein 3 like ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 4:98,470,463...98,510,635
Ensembl chr 4:98,470,463...98,510,633 		JBrowse link
G GON4L gon-4 like ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 4:94,161,887...94,248,785 JBrowse link
G GPATCH4 G-patch domain containing 4 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 4:93,486,365...93,492,837
Ensembl chr 4:93,486,380...93,494,829 		JBrowse link
G HAPLN2 hyaluronan and proteoglycan link protein 2 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 4:93,462,306...93,468,394
Ensembl chr 4:93,462,308...93,467,802 		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 4:95,467,629...95,470,972
Ensembl chr 4:95,467,632...95,470,290 		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 4:94,545,919...94,560,105
Ensembl chr 4:94,547,416...94,560,106 		JBrowse link
G HDGF heparin binding growth factor ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 4:93,341,081...93,351,809
Ensembl chr 4:93,340,882...93,351,802 		JBrowse link
G HORMAD1 HORMA domain containing 1 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 4:98,447,298...98,469,650
Ensembl chr 4:98,449,891...98,469,650 		JBrowse link
G HRNR hornerin ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 4:96,983,596...96,992,606 JBrowse link
G IL6R interleukin 6 receptor ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:17187068 PMID:28492532 NCBI chr 4:95,322,426...95,381,393
Ensembl chr 4:95,322,433...95,381,282 		JBrowse link
G ILF2 interleukin enhancer binding factor 2 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 4:95,980,862...95,987,568
Ensembl chr 4:95,980,918...95,987,867 		JBrowse link
G INSRR insulin receptor related receptor ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 4:93,239,678...93,258,075
Ensembl chr 4:93,239,969...93,258,075 		JBrowse link
G INTS3 integrator complex subunit 3 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 4:95,904,072...95,944,805
Ensembl chr 4:95,905,150...95,944,809 		JBrowse link
G IQGAP3 IQ motif containing GTPase activating protein 3 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 4:93,495,999...93,556,915
Ensembl chr 4:93,513,187...93,559,001 		JBrowse link
G ISG20L2 interferon stimulated exonuclease gene 20 like 2 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 4:93,366,188...93,372,407
Ensembl chr 4:93,366,241...93,372,454 		JBrowse link
G IVL involucrin ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 4:96,656,033...96,658,737
Ensembl chr 4:96,656,033...96,658,737 		JBrowse link
G JTB jumping translocation breakpoint ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 4:95,713,694...95,716,154 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 4:94,913,631...95,112,845
Ensembl chr 4:94,915,965...95,113,275 		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 4:94,098,211...94,116,662
Ensembl chr 4:94,098,252...94,116,658 		JBrowse link
G KPLCE KPRP N-terminal and LCE C-terminal like protein ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 4:96,774,991...96,775,975
Ensembl chr 4:96,775,172...96,775,975 		JBrowse link
G KPRP keratinocyte proline rich protein ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 4:96,749,638...96,753,554 JBrowse link
G KRTCAP2 keratinocyte associated protein 2 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 4:94,643,300...94,646,436
Ensembl chr 4:94,642,942...94,646,436 		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 4:93,972,112...93,975,561
Ensembl chr 4:93,971,819...93,976,304 		JBrowse link
G LCE1F late cornified envelope 1F ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 4:96,712,422...96,713,060 JBrowse link
G LELP1 late cornified envelope like proline rich 1 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 4:96,362,045...96,363,961
Ensembl chr 4:96,362,160...96,362,477 		JBrowse link
G LENEP lens epithelial protein ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 4:94,805,409...94,807,175
Ensembl chr 4:94,806,595...94,806,780 		JBrowse link
G LINGO4 leucine rich repeat and Ig domain containing 4 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 4:97,399,660...97,415,720
Ensembl chr 4:97,400,876...97,406,471 		JBrowse link
G LMNA lamin A/C ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 4:93,899,019...93,927,255
Ensembl chr 4:93,899,019...93,926,320 		JBrowse link
G LOC100152299 late cornified envelope protein 3D-like ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 4:96,839,791...96,841,018 JBrowse link
G LOC106510158 late cornified envelope protein 3D-like ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 4:96,819,489...96,820,514
Ensembl chr 4:96,819,538...96,819,828 		JBrowse link
G LOC106510159 late cornified envelope protein 3D-like ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 4:96,828,768...96,829,266 JBrowse link
G LOC110255231 small proline-rich protein 2E ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 4:96,557,801...96,559,486 JBrowse link
G LOC110260322 uncharacterized LOC110260322 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 4:96,992,602...96,997,794 JBrowse link
G LORICRIN loricrin cornified envelope precursor protein ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 4:96,303,835...96,308,016
Ensembl chr 4:96,304,070...96,305,110 		JBrowse link
G LYSMD1 LysM domain containing 1 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 4:98,082,551...98,093,427
Ensembl chr 4:98,082,540...98,095,322 		JBrowse link
G MCL1 MCL1 apoptosis regulator, BCL2 family member ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 4:98,562,092...98,567,014
Ensembl chr 4:98,534,812...98,567,006 		JBrowse link
G MEF2D myocyte enhancer factor 2D ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 4:93,581,563...93,616,980
Ensembl chr 4:93,581,598...93,616,983 		JBrowse link
G METTL25B methyltransferase like 25B ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 4:93,358,140...93,366,169
Ensembl chr 4:93,358,143...93,366,082 		JBrowse link
G MEX3A mex-3 RNA binding family member A ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 4:93,949,876...93,957,797
Ensembl chr 4:93,949,459...93,955,640 		JBrowse link
G MINDY1 MINDY lysine 48 deubiquitinase 1 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 4:98,218,616...98,231,356
Ensembl chr 4:98,218,742...98,234,332 		JBrowse link
G MIR9-1 microRNA mir-9-1 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 4:93,660,422...93,660,510 JBrowse link
G MLLT11 MLLT11 transcription factor 7 cofactor ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 4:98,165,990...98,171,674
Ensembl chr 4:98,164,676...98,171,674 		JBrowse link
G MRPL24 mitochondrial ribosomal protein L24 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 4:93,352,997...93,357,805
Ensembl chr 4:93,353,111...93,357,796 		JBrowse link
G MRPL9 mitochondrial ribosomal protein L9 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 4:97,448,160...97,462,523
Ensembl chr 4:97,448,169...97,463,131 		JBrowse link
G MRPS21 mitochondrial ribosomal protein S21 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 4:98,780,329...98,795,223
Ensembl chr 4:98,780,334...98,794,821 		JBrowse link
G MSTO1 misato mitochondrial distribution and morphology regulator 1 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 4:94,248,203...94,252,624
Ensembl chr 4:94,248,230...94,253,034 		JBrowse link
G MTMR11 myotubularin related protein 11 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 4:99,115,174...99,122,809
Ensembl chr 4:99,115,133...99,122,808 		JBrowse link
G MTX1 metaxin 1 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 4:94,606,576...94,611,439
Ensembl chr 4:94,606,562...94,611,865 		JBrowse link
G MUC1 mucin 1, cell surface associated ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 4:94,626,317...94,631,194 JBrowse link
G NAXE NAD(P)HX epimerase ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 4:93,493,234...93,495,912
Ensembl chr 4:93,490,537...93,496,396 		JBrowse link
G NES nestin ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 4:93,412,660...93,421,899
Ensembl chr 4:93,412,247...93,421,893 		JBrowse link
G NPR1 natriuretic peptide receptor 1 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 4:95,957,220...95,974,253
Ensembl chr 4:95,957,228...95,973,430 		JBrowse link
G NTRK1 neurotrophic receptor tyrosine kinase 1 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 4:93,219,509...93,237,944
Ensembl chr 4:93,219,516...93,255,981 		JBrowse link
G NUP210L nucleoporin 210 like ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:17187068 PMID:28492532 NCBI chr 4:95,573,974...95,697,196
Ensembl chr 4:95,574,108...95,698,197 		JBrowse link
G OAZ3 ornithine decarboxylase antizyme 3 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 4:97,439,993...97,448,493
Ensembl chr 4:97,439,993...97,448,493 		JBrowse link
G OTUD7B OTU deubiquitinase 7B ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 4:99,054,426...99,111,649
Ensembl chr 4:99,054,426...99,114,162 		JBrowse link
G PAQR6 progestin and adipoQ receptor family member 6 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 4:93,802,721...93,807,624
Ensembl chr 4:93,801,863...93,807,597 		JBrowse link
G PBXIP1 PBX homeobox interacting protein 1 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 4:94,837,365...94,847,652
Ensembl chr 4:94,832,270...94,847,648 		JBrowse link
G PGLYRP3 peptidoglycan recognition protein 3 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 4:96,261,753...96,277,521
Ensembl chr 4:96,261,775...96,277,521 		JBrowse link
G PGLYRP4 peptidoglycan recognition protein 4 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 4:96,243,174...96,247,517
Ensembl chr 4:96,243,118...96,261,495 		JBrowse link
G PI4KB phosphatidylinositol 4-kinase beta ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 4:97,918,234...97,949,929
Ensembl chr 4:97,918,245...97,949,931 		JBrowse link
G PIP5K1A phosphatidylinositol-4-phosphate 5-kinase type 1 alpha ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 4:98,012,941...98,062,166
Ensembl chr 4:98,012,945...98,056,815 		JBrowse link
G PKLR pyruvate kinase L/R ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 4:94,536,978...94,546,561
Ensembl chr 4:94,537,019...94,546,555 		JBrowse link
G PLEKHO1 pleckstrin homology domain containing O1 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 4:98,924,115...98,934,610
Ensembl chr 4:98,923,996...98,934,189 		JBrowse link
G PMF1 polyamine modulated factor 1 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 4:93,810,863...93,836,786
Ensembl chr 4:93,810,507...93,837,652 		JBrowse link
G PMVK phosphomevalonate kinase ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 4:94,861,500...94,913,743
Ensembl chr 4:94,861,712...94,874,771 		JBrowse link
G POGZ pogo transposable element derived with ZNF domain ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 4:97,776,579...97,833,287
Ensembl chr 4:97,776,589...97,833,282 		JBrowse link
G PRCC proline rich mitotic checkpoint control factor ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 4:93,297,859...93,325,499
Ensembl chr 4:93,297,500...93,325,177 		JBrowse link
G PRPF3 pre-mRNA processing factor 3 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 4:98,745,263...98,771,724
Ensembl chr 4:98,745,269...98,785,807 		JBrowse link
G PRR9 proline rich 9 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 4:96,349,627...96,351,402
Ensembl chr 4:96,350,453...96,350,803 		JBrowse link
G PRUNE1 prune exopolyphosphatase 1 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 4:98,194,138...98,218,862
Ensembl chr 4:98,194,139...98,216,932 		JBrowse link
G PSMB4 proteasome 20S subunit beta 4 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 4:97,835,544...97,837,909
Ensembl chr 4:97,835,547...97,837,921 		JBrowse link
G PSMD4 proteasome 26S subunit ubiquitin receptor, non-ATPase 4 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 4:97,994,060...98,004,727
Ensembl chr 4:97,994,065...98,004,688 		JBrowse link
G RAB13 RAB13, member RAS oncogene family ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 4:95,705,093...95,709,942
Ensembl chr 4:95,705,220...95,711,729 		JBrowse link
G RAB25 RAB25, member RAS oncogene family ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 4:93,961,136...93,970,742
Ensembl chr 4:93,961,148...93,970,712 		JBrowse link
G RFX5 regulatory factor X5 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 4:97,901,955...97,913,283
Ensembl chr 4:97,902,172...97,913,283 		JBrowse link
G RHBG Rh family B glycoprotein ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 4:93,694,259...93,708,055
Ensembl chr 4:93,694,266...93,707,865 		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 chr 4:97,496,058...97,507,714
Ensembl chr 4:97,495,819...97,507,684 		JBrowse link
G RIT1 Ras like without CAAX 1 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 4:94,117,721...94,127,882
Ensembl chr 4:94,117,882...94,127,384 		JBrowse link
G RORC RAR related orphan receptor C ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 4:97,374,672...97,399,017
Ensembl chr 4:97,375,136...97,400,209 		JBrowse link
G RPRD2 regulation of nuclear pre-mRNA domain containing 2 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 4:98,640,925...98,734,606
Ensembl chr 4:98,640,930...98,734,297 		JBrowse link
G RPS27 ribosomal protein S27 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:17187068 PMID:28492532 NCBI chr 4:95,697,869...95,699,481
Ensembl chr 4:95,694,771...95,699,447 		JBrowse link
G RPTN repetin ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 4:97,127,078...97,131,903 JBrowse link
G RUSC1 RUN and SH3 domain containing 1 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 4:94,489,202...94,499,993
Ensembl chr 4:94,489,207...94,499,256 		JBrowse link
G RXFP4 relaxin family peptide/INSL5 receptor 4 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 4:94,083,974...94,085,095
Ensembl chr 4:94,082,826...94,088,224 		JBrowse link
G S100A1 S100 calcium binding protein A1 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 4:96,007,026...96,012,305
Ensembl chr 4:96,007,028...96,012,310 		JBrowse link
G S100A10 S100 calcium binding protein A10 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 4:97,261,752...97,272,517
Ensembl chr 4:97,261,815...97,272,513 		JBrowse link
G S100A11 S100 calcium binding protein A11 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 4:97,233,833...97,239,081
Ensembl chr 4:97,233,811...97,243,423 		JBrowse link
G S100A12 S100 calcium binding protein A12 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 4:96,225,691...96,227,030
Ensembl chr 4:96,225,691...96,227,127 		JBrowse link
G S100A13 S100 calcium binding protein A13 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 4:96,007,280...96,025,120 JBrowse link
G S100A14 S100 calcium binding protein A14 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 4:96,027,746...96,029,878
Ensembl chr 4:96,027,639...96,029,869 		JBrowse link
G S100A16 S100 calcium binding protein A16 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 4:96,030,930...96,038,602 JBrowse link
G S100A2 S100 calcium binding protein A2 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 4:96,073,496...96,076,825
Ensembl chr 4:96,073,232...96,076,817 		JBrowse link
G S100A3 S100 calcium binding protein A3 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 4:96,084,049...96,086,829
Ensembl chr 4:96,084,088...96,086,827 		JBrowse link
G S100A4 S100 calcium binding protein A4 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 4:96,088,102...96,091,160
Ensembl chr 4:96,088,201...96,091,156 		JBrowse link
G S100A5 S100 calcium binding protein A5 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 4:96,093,204...96,096,870
Ensembl chr 4:96,094,147...96,096,870 		JBrowse link
G S100A6 S100 calcium binding protein A6 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 4:96,098,264...96,099,686
Ensembl chr 4:96,098,525...96,099,684 		JBrowse link
G S100A7 S100 calcium binding protein A7 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 4:96,176,718...96,178,694 JBrowse link
G S100A8 S100 calcium binding protein A8 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 4:96,209,670...96,210,603
Ensembl chr 4:96,209,659...96,210,602 		JBrowse link
G S100A9 S100 calcium binding protein A9 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 4:96,236,114...96,238,989 JBrowse link
G SCAMP3 secretory carrier membrane protein 3 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 4:94,570,563...94,575,265
Ensembl chr 4:94,570,563...94,575,265 		JBrowse link
G SELENBP1 selenium binding protein 1 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 4:97,860,925...97,894,007
Ensembl chr 4:97,837,981...97,894,301 		JBrowse link
G SEMA4A semaphorin 4A ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 4:93,865,054...93,892,995
Ensembl chr 4:93,865,057...93,886,371 		JBrowse link
G SEMA6C semaphorin 6C ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 4:98,107,316...98,121,464
Ensembl chr 4:98,107,360...98,122,347 		JBrowse link
G SETDB1 SET domain bifurcated histone lysine methyltransferase 1 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 4:98,259,801...98,293,238
Ensembl chr 4:98,260,375...98,293,097 		JBrowse link
G SF3B4 splicing factor 3b subunit 4 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 4:99,123,564...99,129,218
Ensembl chr 4:99,123,585...99,129,218 		JBrowse link
G SH2D2A SH2 domain containing 2A ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 4:93,282,383...93,293,214
Ensembl chr 4:93,282,413...93,293,205 		JBrowse link
G SHC1 SHC adaptor protein 1 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 4:94,818,226...94,831,766
Ensembl chr 4:94,810,875...94,831,765 		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 4:95,284,275...95,308,109
Ensembl chr 4:95,284,607...95,308,099 		JBrowse link
G SLC25A44 solute carrier family 25 member 44 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 4:93,837,004...93,857,154
Ensembl chr 4:93,837,009...93,857,158 		JBrowse link
G SLC27A3 solute carrier family 27 member 3 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 4:95,898,780...95,903,599
Ensembl chr 4:95,898,804...95,903,604 		JBrowse link
G SLC39A1 solute carrier family 39 member 1 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 4:95,729,480...95,733,824
Ensembl chr 4:95,729,347...95,733,819 		JBrowse link
G SLC50A1 solute carrier family 50 member 1 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 4:94,663,057...94,665,486
Ensembl chr 4:94,663,059...94,665,467 		JBrowse link
G SMCP sperm mitochondria associated cysteine rich protein ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 4:96,671,907...96,676,426
Ensembl chr 4:96,671,907...96,676,426 		JBrowse link
G SMG5 SMG5 nonsense mediated mRNA decay factor ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 4:93,770,329...93,801,808
Ensembl chr 4:93,770,378...93,800,650 		JBrowse link
G SNAPIN SNAP associated protein ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 4:95,987,524...95,989,527
Ensembl chr 4:95,984,358...95,989,474 		JBrowse link
G SNX27 sorting nexin 27 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 4:97,533,643...97,620,816
Ensembl chr 4:97,525,181...97,620,788 		JBrowse link
G SPRP small proline-rich protein ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 4:96,588,991...96,590,696
Ensembl chr 4:96,588,992...96,590,696 		JBrowse link
G SSR2 signal sequence receptor subunit 2 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 4:94,010,724...94,021,964
Ensembl chr 4:94,011,527...94,021,962 		JBrowse link
G SYT11 synaptotagmin 11 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 4:94,139,345...94,163,091
Ensembl chr 4:94,139,347...94,163,049 		JBrowse link
G TARS2 threonyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 4:98,622,235...98,635,318
Ensembl chr 4:98,622,494...98,635,271 		JBrowse link
G TCHH trichohyalin ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 4:97,159,720...97,168,260 JBrowse link
G TCHHL1 trichohyalin like 1 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 4:97,176,719...97,182,012
Ensembl chr 4:97,177,405...97,182,540 		JBrowse link
G TDRD10 tudor domain containing 10 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:17187068 PMID:28492532 NCBI chr 4:95,231,253...95,284,485
Ensembl chr 4:95,231,252...95,284,502 		JBrowse link
G TDRKH tudor and KH domain containing ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 4:97,415,891...97,438,262
Ensembl chr 4:97,415,914...97,438,691 		JBrowse link
G THBS3 thrombospondin 3 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 4:94,612,702...94,623,905
Ensembl chr 4:94,611,593...94,623,902 		JBrowse link
G THEM5 thioesterase superfamily member 5 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 4:97,319,579...97,358,602
Ensembl chr 4:97,332,432...97,359,428 		JBrowse link
G TMEM79 transmembrane protein 79 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 4:93,762,176...93,768,840
Ensembl chr 4:93,762,177...93,768,633 		JBrowse link
G TMOD4 tropomodulin 4 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 4:98,074,380...98,079,346
Ensembl chr 4:98,074,387...98,079,343 		JBrowse link
G TNFAIP8L2 TNF alpha induced protein 8 like 2 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 4:98,093,426...98,096,819
Ensembl chr 4:98,093,426...98,096,531 		JBrowse link
G TPM3 tropomyosin 3 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:17187068 PMID:28492532 NCBI chr 4:95,542,329...95,572,946
Ensembl chr 4:95,542,473...95,572,938 		JBrowse link
G TRIM46 tripartite motif containing 46 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 4:94,632,073...94,642,756
Ensembl chr 4:94,632,077...94,642,705 		JBrowse link
G TSACC TSSK6 activating cochaperone ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 4:93,725,672...93,735,029
Ensembl chr 4:93,725,531...93,728,761 		JBrowse link
G TTC24 tetratricopeptide repeat domain 24 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 4:93,500,900...93,512,039
Ensembl chr 4:93,500,564...93,510,815 		JBrowse link
G TUFT1 tuftelin 1 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 4:97,648,817...97,704,654
Ensembl chr 4:97,648,818...97,703,592 		JBrowse link
G UBAP2L ubiquitin associated protein 2 like ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:17187068 PMID:28492532 NCBI chr 4:95,471,122...95,519,800
Ensembl chr 4:95,471,126...95,520,425 		JBrowse link
G UBE2Q1 ubiquitin conjugating enzyme E2 Q1 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:17187068 PMID:28492532 NCBI chr 4:95,221,149...95,229,533
Ensembl chr 4:95,221,199...95,229,530 		JBrowse link
G UBQLN4 ubiquilin 4 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 4:93,976,386...93,994,830
Ensembl chr 4:93,976,451...93,994,828 		JBrowse link
G VPS45 vacuolar protein sorting 45 homolog ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 4:98,939,585...99,010,554
Ensembl chr 4:98,939,584...99,010,585 		JBrowse link
G VPS72 vacuolar protein sorting 72 homolog ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 4:98,062,261...98,074,074
Ensembl chr 4:98,062,256...98,074,059 		JBrowse link
G ZBTB7B zinc finger and BTB domain containing 7B ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 4:94,780,404...94,796,722
Ensembl chr 4:94,780,408...94,796,657 		JBrowse link
G ZNF687 zinc finger protein 687 ISO ClinVar Annotator: match by term: Kostmann syndrome ClinVar PMID:28492532 NCBI chr 4:97,949,931...97,959,058
Ensembl chr 4:97,949,931...97,958,882 		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 | ClinVar Annotator: match by term: G6PC3-related condition OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:19011569 PMID:19118303 More... NCBI chr12:19,121,540...19,126,291
Ensembl chr12:19,121,544...19,126,295 		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 4:94,736,639...94,748,093
Ensembl chr 4:94,736,646...94,748,098 		JBrowse link
G ADAMTSL4 ADAMTS like 4 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 4:98,577,813...98,589,255
Ensembl chr 4:98,577,823...98,589,180 		JBrowse link
G ADAR adenosine deaminase RNA specific ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 4:95,154,230...95,197,308
Ensembl chr 4:95,154,358...95,197,304 		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 chr 4:98,849,114...98,869,095
Ensembl chr 4:98,849,196...98,869,098 		JBrowse link
G ANXA9 annexin A9 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 4:98,224,436...98,243,957
Ensembl chr 4:98,229,449...98,242,718 		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 chr 4:98,817,574...98,821,255
Ensembl chr 4:98,817,586...98,821,254 		JBrowse link
G AQP10 aquaporin 10 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 4:95,449,268...95,453,663
Ensembl chr 4:95,450,150...95,453,256 		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 4:94,026,391...94,082,206
Ensembl chr 4:94,026,386...94,080,420 		JBrowse link
G ARNT aryl hydrocarbon receptor nuclear translocator ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 4:98,333,431...98,390,012
Ensembl chr 4:98,333,459...98,389,457 		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 4:94,297,532...94,484,994
Ensembl chr 4:94,297,616...94,484,990 		JBrowse link
G ATP8B2 ATPase phospholipid transporting 8B2 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 4:95,426,545...95,449,193
Ensembl chr 4:95,427,943...95,449,188 		JBrowse link
G BCAN brevican ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 4:93,432,331...93,450,895
Ensembl chr 4:93,432,330...93,450,831 		JBrowse link
G BGLAP bone gamma-carboxyglutamate protein ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 4:93,807,703...93,808,806
Ensembl chr 4:93,807,706...93,808,968 		JBrowse link
G BNIPL BCL2 interacting protein like ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 4:98,184,038...98,193,522
Ensembl chr 4:98,183,540...98,193,242 		JBrowse link
G C2CD4D C2 calcium dependent domain containing 4D ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 4:97,367,372...97,369,598
Ensembl chr 4:97,368,453...97,369,514 		JBrowse link
G C4H1orf43 chromosome 4 C1orf43 homolog ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 4:95,520,003...95,530,856
Ensembl chr 4:95,519,992...95,530,846 		JBrowse link
G C4H1orf54 chromosome 4 C1orf54 homolog ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 4:98,806,352...98,814,627
Ensembl chr 4:98,805,588...98,814,563 		JBrowse link
G C4H1orf56 chromosome 4 C1orf56 homolog ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 4:98,181,069...98,183,333
Ensembl chr 4:98,180,367...98,183,464 		JBrowse link
G CA14 carbonic anhydrase 14 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 4:98,821,577...98,828,934
Ensembl chr 4:98,821,579...98,828,736 		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 4:93,733,967...93,753,340
Ensembl chr 4:93,733,918...93,753,340 		JBrowse link
G CDC42SE1 CDC42 small effector 1 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 4:98,171,937...98,180,577
Ensembl chr 4:98,164,024...98,180,576 		JBrowse link
G CELF3 CUGBP Elav-like family member 3 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 4:97,513,563...97,535,426
Ensembl chr 4:97,514,224...97,528,481 		JBrowse link
G CERS2 ceramide synthase 2 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 4:98,250,773...98,260,504
Ensembl chr 4:98,250,964...98,260,427 		JBrowse link
G CFAP141 cilia and flagella associated protein 141 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 4:95,531,141...95,534,752
Ensembl chr 4:95,530,994...95,535,407 		JBrowse link
G CGN cingulin ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 4:97,704,805...97,730,498 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 4:95,196,992...95,211,084
Ensembl chr 4:95,198,717...95,211,037 		JBrowse link
G CHTOP chromatin target of PRMT1 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 4:95,996,030...96,006,511
Ensembl chr 4:95,994,263...96,005,585 		JBrowse link
G CIART circadian associated repressor of transcription ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 4:98,800,849...98,809,573
Ensembl chr 4:98,800,931...98,804,739 		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 4:94,815,769...94,819,583
Ensembl chr 4:94,815,771...94,819,597 		JBrowse link
G CLK2 CDC like kinase 2 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 4:94,558,220...94,570,084
Ensembl chr 4:94,560,579...94,570,082 		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 4:93,388,198...93,393,861
Ensembl chr 4:93,388,092...93,394,155 		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 4:95,716,530...95,723,959
Ensembl chr 4:95,716,537...95,722,947 		JBrowse link
G CRNN cornulin ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 4:96,933,221...96,938,980
Ensembl chr 4:96,933,287...96,939,662 		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 4:95,734,228...95,745,630
Ensembl chr 4:95,734,299...95,745,629 		JBrowse link
G CTSK cathepsin K ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 4:98,389,459...98,404,969
Ensembl chr 4:98,391,428...98,404,961 		JBrowse link
G CTSS cathepsin S ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 4:98,415,273...98,442,952
Ensembl chr 4:98,417,883...98,442,950 		JBrowse link
G DAP3 death associated protein 3 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 4:94,256,460...94,298,492
Ensembl chr 4:94,262,332...94,297,223 		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 4:94,748,430...94,768,322
Ensembl chr 4:94,748,429...94,768,452 		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 4:94,768,533...94,781,482
Ensembl chr 4:94,768,500...94,780,214 		JBrowse link
G DENND4B DENN domain containing 4B ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 4:95,745,878...95,762,192
Ensembl chr 4:95,748,140...95,761,519 		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 4:94,661,568...94,662,223
Ensembl chr 4:94,661,873...94,662,151 		JBrowse link
G ECM1 extracellular matrix protein 1 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 4:98,615,776...98,633,081
Ensembl chr 4:98,615,778...98,621,836 		JBrowse link
G EFNA1 ephrin A1 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 4:94,666,457...94,673,442
Ensembl chr 4:94,666,460...94,674,071 		JBrowse link
G EFNA3 ephrin A3 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 4:94,709,941...94,719,350
Ensembl chr 4:94,710,647...94,719,248 		JBrowse link
G EFNA4 ephrin A4 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 4:94,730,790...94,735,578
Ensembl chr 4:94,730,792...94,735,559 		JBrowse link
G ENSA endosulfine alpha ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 4:98,527,902...98,535,647
Ensembl chr 4:98,527,907...98,542,959 		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 4:94,575,752...94,581,587
Ensembl chr 4:94,575,793...94,581,585 		JBrowse link
G FDPS farnesyl diphosphate synthase ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 4:94,500,140...94,514,820
Ensembl chr 4:94,500,141...94,518,408 		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 4:94,807,280...94,813,512
Ensembl chr 4:94,807,287...94,813,575 		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 chr 4:98,129,864...98,163,955
Ensembl chr 4:98,133,647...98,163,778 		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 4:95,766,989...95,864,502
Ensembl chr 4:95,766,490...95,864,435 		JBrowse link
G GBA1 glucosylceramidase beta 1 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 4:94,583,905...94,606,689
Ensembl chr 4:94,584,134...94,609,745 		JBrowse link
G GLMP glycosylated lysosomal membrane protein ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 4:93,758,939...93,763,517
Ensembl chr 4:93,758,809...93,763,912 		JBrowse link
G GOLPH3L golgi phosphoprotein 3 like ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 4:98,470,463...98,510,635
Ensembl chr 4:98,470,463...98,510,633 		JBrowse link
G GON4L gon-4 like ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 4:94,161,887...94,248,785 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 4:93,486,365...93,492,837
Ensembl chr 4:93,486,380...93,494,829 		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 4:93,462,306...93,468,394
Ensembl chr 4:93,462,308...93,467,802 		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 4:95,467,629...95,470,972
Ensembl chr 4:95,467,632...95,470,290 		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 4:94,545,919...94,560,105
Ensembl chr 4:94,547,416...94,560,106 		JBrowse link
G HDGF heparin binding growth factor ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 4:93,341,081...93,351,809
Ensembl chr 4:93,340,882...93,351,802 		JBrowse link
G HORMAD1 HORMA domain containing 1 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 4:98,447,298...98,469,650
Ensembl chr 4:98,449,891...98,469,650 		JBrowse link
G HRNR hornerin ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 4:96,983,596...96,992,606 JBrowse link
G IL6R interleukin 6 receptor ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 4:95,322,426...95,381,393
Ensembl chr 4:95,322,433...95,381,282 		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 4:95,980,862...95,987,568
Ensembl chr 4:95,980,918...95,987,867 		JBrowse link
G INSRR insulin receptor related receptor ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 4:93,239,678...93,258,075
Ensembl chr 4:93,239,969...93,258,075 		JBrowse link
G INTS3 integrator complex subunit 3 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 4:95,904,072...95,944,805
Ensembl chr 4:95,905,150...95,944,809 		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 4:93,495,999...93,556,915
Ensembl chr 4:93,513,187...93,559,001 		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 4:93,366,188...93,372,407
Ensembl chr 4:93,366,241...93,372,454 		JBrowse link
G IVL involucrin ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 4:96,656,033...96,658,737
Ensembl chr 4:96,656,033...96,658,737 		JBrowse link
G JTB jumping translocation breakpoint ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 4:95,713,694...95,716,154 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 4:94,913,631...95,112,845
Ensembl chr 4:94,915,965...95,113,275 		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 4:94,098,211...94,116,662
Ensembl chr 4:94,098,252...94,116,658 		JBrowse link
G KPLCE KPRP N-terminal and LCE C-terminal like protein ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 4:96,774,991...96,775,975
Ensembl chr 4:96,775,172...96,775,975 		JBrowse link
G KPRP keratinocyte proline rich protein ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 4:96,749,638...96,753,554 JBrowse link
G KRTCAP2 keratinocyte associated protein 2 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 4:94,643,300...94,646,436
Ensembl chr 4:94,642,942...94,646,436 		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 4:93,972,112...93,975,561
Ensembl chr 4:93,971,819...93,976,304 		JBrowse link
G LCE1F late cornified envelope 1F ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 4:96,712,422...96,713,060 JBrowse link
G LELP1 late cornified envelope like proline rich 1 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 4:96,362,045...96,363,961
Ensembl chr 4:96,362,160...96,362,477 		JBrowse link
G LENEP lens epithelial protein ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 4:94,805,409...94,807,175
Ensembl chr 4:94,806,595...94,806,780 		JBrowse link
G LINGO4 leucine rich repeat and Ig domain containing 4 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 4:97,399,660...97,415,720
Ensembl chr 4:97,400,876...97,406,471 		JBrowse link
G LMNA lamin A/C ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 4:93,899,019...93,927,255
Ensembl chr 4:93,899,019...93,926,320 		JBrowse link
G LOC100152299 late cornified envelope protein 3D-like ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 4:96,839,791...96,841,018 JBrowse link
G LOC106510158 late cornified envelope protein 3D-like ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 4:96,819,489...96,820,514
Ensembl chr 4:96,819,538...96,819,828 		JBrowse link
G LOC106510159 late cornified envelope protein 3D-like ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 4:96,828,768...96,829,266 JBrowse link
G LOC110255231 small proline-rich protein 2E ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 4:96,557,801...96,559,486 JBrowse link
G LOC110260322 uncharacterized LOC110260322 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 4:96,992,602...96,997,794 JBrowse link
G LORICRIN loricrin cornified envelope precursor protein ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 4:96,303,835...96,308,016
Ensembl chr 4:96,304,070...96,305,110 		JBrowse link
G LYSMD1 LysM domain containing 1 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 4:98,082,551...98,093,427
Ensembl chr 4:98,082,540...98,095,322 		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 chr 4:98,562,092...98,567,014
Ensembl chr 4:98,534,812...98,567,006 		JBrowse link
G MEF2D myocyte enhancer factor 2D ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 4:93,581,563...93,616,980
Ensembl chr 4:93,581,598...93,616,983 		JBrowse link
G METTL25B methyltransferase like 25B ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 4:93,358,140...93,366,169
Ensembl chr 4:93,358,143...93,366,082 		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 4:93,949,876...93,957,797
Ensembl chr 4:93,949,459...93,955,640 		JBrowse link
G MINDY1 MINDY lysine 48 deubiquitinase 1 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 4:98,218,616...98,231,356
Ensembl chr 4:98,218,742...98,234,332 		JBrowse link
G MIR9-1 microRNA mir-9-1 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 4:93,660,422...93,660,510 JBrowse link
G MLLT11 MLLT11 transcription factor 7 cofactor ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 4:98,165,990...98,171,674
Ensembl chr 4:98,164,676...98,171,674 		JBrowse link
G MRPL24 mitochondrial ribosomal protein L24 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 4:93,352,997...93,357,805
Ensembl chr 4:93,353,111...93,357,796 		JBrowse link
G MRPL9 mitochondrial ribosomal protein L9 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 4:97,448,160...97,462,523
Ensembl chr 4:97,448,169...97,463,131 		JBrowse link
G MRPS21 mitochondrial ribosomal protein S21 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 4:98,780,329...98,795,223
Ensembl chr 4:98,780,334...98,794,821 		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 4:94,248,203...94,252,624
Ensembl chr 4:94,248,230...94,253,034 		JBrowse link
G MTMR11 myotubularin related protein 11 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 4:99,115,174...99,122,809
Ensembl chr 4:99,115,133...99,122,808 		JBrowse link
G MTX1 metaxin 1 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 4:94,606,576...94,611,439
Ensembl chr 4:94,606,562...94,611,865 		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 4:94,626,317...94,631,194 JBrowse link
G NAXE NAD(P)HX epimerase ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 4:93,493,234...93,495,912
Ensembl chr 4:93,490,537...93,496,396 		JBrowse link
G NES nestin ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 4:93,412,660...93,421,899
Ensembl chr 4:93,412,247...93,421,893 		JBrowse link
G NPR1 natriuretic peptide receptor 1 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 4:95,957,220...95,974,253
Ensembl chr 4:95,957,228...95,973,430 		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 4:93,219,509...93,237,944
Ensembl chr 4:93,219,516...93,255,981 		JBrowse link
G NUP210L nucleoporin 210 like ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 4:95,573,974...95,697,196
Ensembl chr 4:95,574,108...95,698,197 		JBrowse link
G OAZ3 ornithine decarboxylase antizyme 3 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 4:97,439,993...97,448,493
Ensembl chr 4:97,439,993...97,448,493 		JBrowse link
G OTUD7B OTU deubiquitinase 7B ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 4:99,054,426...99,111,649
Ensembl chr 4:99,054,426...99,114,162 		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 4:93,802,721...93,807,624
Ensembl chr 4:93,801,863...93,807,597 		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 4:94,837,365...94,847,652
Ensembl chr 4:94,832,270...94,847,648 		JBrowse link
G PGLYRP3 peptidoglycan recognition protein 3 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 4:96,261,753...96,277,521
Ensembl chr 4:96,261,775...96,277,521 		JBrowse link
G PGLYRP4 peptidoglycan recognition protein 4 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 4:96,243,174...96,247,517
Ensembl chr 4:96,243,118...96,261,495 		JBrowse link
G PI4KB phosphatidylinositol 4-kinase beta ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 4:97,918,234...97,949,929
Ensembl chr 4:97,918,245...97,949,931 		JBrowse link
G PIP5K1A phosphatidylinositol-4-phosphate 5-kinase type 1 alpha ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 4:98,012,941...98,062,166
Ensembl chr 4:98,012,945...98,056,815 		JBrowse link
G PKLR pyruvate kinase L/R ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 4:94,536,978...94,546,561
Ensembl chr 4:94,537,019...94,546,555 		JBrowse link
G PLEKHO1 pleckstrin homology domain containing O1 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 4:98,924,115...98,934,610
Ensembl chr 4:98,923,996...98,934,189 		JBrowse link
G PMF1 polyamine modulated factor 1 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 4:93,810,863...93,836,786
Ensembl chr 4:93,810,507...93,837,652 		JBrowse link
G PMVK phosphomevalonate kinase ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 4:94,861,500...94,913,743
Ensembl chr 4:94,861,712...94,874,771 		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 chr 4:97,776,579...97,833,287
Ensembl chr 4:97,776,589...97,833,282 		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 4:93,297,859...93,325,499
Ensembl chr 4:93,297,500...93,325,177 		JBrowse link
G PRPF3 pre-mRNA processing factor 3 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 4:98,745,263...98,771,724
Ensembl chr 4:98,745,269...98,785,807 		JBrowse link
G PRR9 proline rich 9 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 4:96,349,627...96,351,402
Ensembl chr 4:96,350,453...96,350,803 		JBrowse link
G PRUNE1 prune exopolyphosphatase 1 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 4:98,194,138...98,218,862
Ensembl chr 4:98,194,139...98,216,932 		JBrowse link
G PSMB4 proteasome 20S subunit beta 4 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 4:97,835,544...97,837,909
Ensembl chr 4:97,835,547...97,837,921 		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 chr 4:97,994,060...98,004,727
Ensembl chr 4:97,994,065...98,004,688 		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 4:95,705,093...95,709,942
Ensembl chr 4:95,705,220...95,711,729 		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 4:93,961,136...93,970,742
Ensembl chr 4:93,961,148...93,970,712 		JBrowse link
G RFX5 regulatory factor X5 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 4:97,901,955...97,913,283
Ensembl chr 4:97,902,172...97,913,283 		JBrowse link
G RHBG Rh family B glycoprotein ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 4:93,694,259...93,708,055
Ensembl chr 4:93,694,266...93,707,865 		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 chr 4:97,496,058...97,507,714
Ensembl chr 4:97,495,819...97,507,684 		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 4:94,117,721...94,127,882
Ensembl chr 4:94,117,882...94,127,384 		JBrowse link
G RORC RAR related orphan receptor C ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 4:97,374,672...97,399,017
Ensembl chr 4:97,375,136...97,400,209 		JBrowse link
G RPRD2 regulation of nuclear pre-mRNA domain containing 2 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 4:98,640,925...98,734,606
Ensembl chr 4:98,640,930...98,734,297 		JBrowse link
G RPS27 ribosomal protein S27 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 4:95,697,869...95,699,481
Ensembl chr 4:95,694,771...95,699,447 		JBrowse link
G RPTN repetin ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 4:97,127,078...97,131,903 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 4:94,489,202...94,499,993
Ensembl chr 4:94,489,207...94,499,256 		JBrowse link
G RXFP4 relaxin family peptide/INSL5 receptor 4 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 4:94,083,974...94,085,095
Ensembl chr 4:94,082,826...94,088,224 		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 4:96,007,026...96,012,305
Ensembl chr 4:96,007,028...96,012,310 		JBrowse link
G S100A10 S100 calcium binding protein A10 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 4:97,261,752...97,272,517
Ensembl chr 4:97,261,815...97,272,513 		JBrowse link
G S100A11 S100 calcium binding protein A11 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 4:97,233,833...97,239,081
Ensembl chr 4:97,233,811...97,243,423 		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 4:96,225,691...96,227,030
Ensembl chr 4:96,225,691...96,227,127 		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 4:96,007,280...96,025,120 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 4:96,027,746...96,029,878
Ensembl chr 4:96,027,639...96,029,869 		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 4:96,030,930...96,038,602 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 4:96,073,496...96,076,825
Ensembl chr 4:96,073,232...96,076,817 		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 4:96,084,049...96,086,829
Ensembl chr 4:96,084,088...96,086,827 		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 4:96,088,102...96,091,160
Ensembl chr 4:96,088,201...96,091,156 		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 4:96,093,204...96,096,870
Ensembl chr 4:96,094,147...96,096,870 		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 4:96,098,264...96,099,686
Ensembl chr 4:96,098,525...96,099,684 		JBrowse link
G S100A7 S100 calcium binding protein A7 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 4:96,176,718...96,178,694 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 4:96,209,670...96,210,603
Ensembl chr 4:96,209,659...96,210,602 		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 4:96,236,114...96,238,989 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 4:94,570,563...94,575,265
Ensembl chr 4:94,570,563...94,575,265 		JBrowse link
G SELENBP1 selenium binding protein 1 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 4:97,860,925...97,894,007
Ensembl chr 4:97,837,981...97,894,301 		JBrowse link
G SEMA4A semaphorin 4A ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 4:93,865,054...93,892,995
Ensembl chr 4:93,865,057...93,886,371 		JBrowse link
G SEMA6C semaphorin 6C ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 4:98,107,316...98,121,464
Ensembl chr 4:98,107,360...98,122,347 		JBrowse link
G SETDB1 SET domain bifurcated histone lysine methyltransferase 1 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 4:98,259,801...98,293,238
Ensembl chr 4:98,260,375...98,293,097 		JBrowse link
G SF3B4 splicing factor 3b subunit 4 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 4:99,123,564...99,129,218
Ensembl chr 4:99,123,585...99,129,218 		JBrowse link
G SH2D2A SH2 domain containing 2A ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 4:93,282,383...93,293,214
Ensembl chr 4:93,282,413...93,293,205 		JBrowse link
G SHC1 SHC adaptor protein 1 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 4:94,818,226...94,831,766
Ensembl chr 4:94,810,875...94,831,765 		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 4:95,284,275...95,308,109
Ensembl chr 4:95,284,607...95,308,099 		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 4:93,837,004...93,857,154
Ensembl chr 4:93,837,009...93,857,158 		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 4:95,898,780...95,903,599
Ensembl chr 4:95,898,804...95,903,604 		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 4:95,729,480...95,733,824
Ensembl chr 4:95,729,347...95,733,819 		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 4:94,663,057...94,665,486
Ensembl chr 4:94,663,059...94,665,467 		JBrowse link
G SMCP sperm mitochondria associated cysteine rich protein ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 4:96,671,907...96,676,426
Ensembl chr 4:96,671,907...96,676,426 		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 4:93,770,329...93,801,808
Ensembl chr 4:93,770,378...93,800,650 		JBrowse link
G SNAPIN SNAP associated protein ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 4:95,987,524...95,989,527
Ensembl chr 4:95,984,358...95,989,474 		JBrowse link
G SNX27 sorting nexin 27 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 4:97,533,643...97,620,816
Ensembl chr 4:97,525,181...97,620,788 		JBrowse link
G SPRP small proline-rich protein ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 4:96,588,991...96,590,696
Ensembl chr 4:96,588,992...96,590,696 		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 4:94,010,724...94,021,964
Ensembl chr 4:94,011,527...94,021,962 		JBrowse link
G SYT11 synaptotagmin 11 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 4:94,139,345...94,163,091
Ensembl chr 4:94,139,347...94,163,049 		JBrowse link
G TARS2 threonyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 4:98,622,235...98,635,318
Ensembl chr 4:98,622,494...98,635,271 		JBrowse link
G TCHH trichohyalin ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 4:97,159,720...97,168,260 JBrowse link
G TCHHL1 trichohyalin like 1 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 4:97,176,719...97,182,012
Ensembl chr 4:97,177,405...97,182,540 		JBrowse link
G TDRD10 tudor domain containing 10 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 4:95,231,253...95,284,485
Ensembl chr 4:95,231,252...95,284,502 		JBrowse link
G TDRKH tudor and KH domain containing ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 4:97,415,891...97,438,262
Ensembl chr 4:97,415,914...97,438,691 		JBrowse link
G THBS3 thrombospondin 3 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 4:94,612,702...94,623,905
Ensembl chr 4:94,611,593...94,623,902 		JBrowse link
G THEM5 thioesterase superfamily member 5 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 4:97,319,579...97,358,602
Ensembl chr 4:97,332,432...97,359,428 		JBrowse link
G TMEM79 transmembrane protein 79 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 4:93,762,176...93,768,840
Ensembl chr 4:93,762,177...93,768,633 		JBrowse link
G TMOD4 tropomodulin 4 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 4:98,074,380...98,079,346
Ensembl chr 4:98,074,387...98,079,343 		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 chr 4:98,093,426...98,096,819
Ensembl chr 4:98,093,426...98,096,531 		JBrowse link
G TPM3 tropomyosin 3 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 4:95,542,329...95,572,946
Ensembl chr 4:95,542,473...95,572,938 		JBrowse link
G TRIM46 tripartite motif containing 46 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 4:94,632,073...94,642,756
Ensembl chr 4:94,632,077...94,642,705 		JBrowse link
G TSACC TSSK6 activating cochaperone ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 4:93,725,672...93,735,029
Ensembl chr 4:93,725,531...93,728,761 		JBrowse link
G TTC24 tetratricopeptide repeat domain 24 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 4:93,500,900...93,512,039
Ensembl chr 4:93,500,564...93,510,815 		JBrowse link
G TUFT1 tuftelin 1 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 4:97,648,817...97,704,654
Ensembl chr 4:97,648,818...97,703,592 		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 4:95,471,122...95,519,800
Ensembl chr 4:95,471,126...95,520,425 		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 4:95,221,149...95,229,533
Ensembl chr 4:95,221,199...95,229,530 		JBrowse link
G UBQLN4 ubiquilin 4 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 4:93,976,386...93,994,830
Ensembl chr 4:93,976,451...93,994,828 		JBrowse link
G VPS45 vacuolar protein sorting 45 homolog ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome | ClinVar Annotator: match by term: Severe congenital neutropenia 5, autosomal recessive OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:23599270 PMID:23738510 PMID:25640679 More... NCBI chr 4:98,939,585...99,010,554
Ensembl chr 4:98,939,584...99,010,585 		JBrowse link
G VPS72 vacuolar protein sorting 72 homolog ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 4:98,062,261...98,074,074
Ensembl chr 4:98,062,256...98,074,059 		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 4:94,780,404...94,796,722
Ensembl chr 4:94,780,408...94,796,657 		JBrowse link
G ZNF687 zinc finger protein 687 ISO ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome ClinVar PMID:28492532 NCBI chr 4:97,949,931...97,959,058
Ensembl chr 4:97,949,931...97,958,882 		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 chr13:66,315,438...66,324,641
Ensembl chr13:66,315,315...66,324,641 		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 chr13:66,141,836...66,149,801
Ensembl chr13:66,141,839...66,149,703 		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 chr13:66,194,795...66,203,419
Ensembl chr13:66,194,865...66,203,412 		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 chr13:66,221,844...66,241,963
Ensembl chr13:66,217,970...66,241,935 		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 chr13:66,241,951...66,308,601
Ensembl chr13:66,241,967...66,310,433 		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 chr13:66,309,350...66,312,965
Ensembl chr13:66,309,630...66,310,166 		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 chr13:66,179,298...66,194,750 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 chr13:66,164,492...66,177,967 JBrowse link
G JAGN1 jagunal homolog 1 ISO ClinVar Annotator: match by term: Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency | ClinVar Annotator: match by term: Severe congenital neutropenia 6, autosomal recessive OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:25129144 PMID:25741868 PMID:25851723 More... NCBI chr13:66,154,855...66,158,329 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 chr13:66,200,400...66,211,595
Ensembl chr13:66,200,797...66,211,449 		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 chr13:66,334,535...66,342,401
Ensembl chr13:66,334,591...66,342,654 		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 | ClinVar Annotator: match by term: Neutropenia, severe congenital, 7, autosomal recessive OMIM
ClinVar		 PMID:9536098 PMID:10449521 PMID:16199547 PMID:17576681 PMID:23604229 More... NCBI chr 6:92,550,159...92,565,798
Ensembl chr 6:92,550,161...92,565,477 		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 | ClinVar Annotator: match by term: SHWACHMAN-DIAMOND SYNDROME-LIKE OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:28972538 PMID:29914977 NCBI chr 7:64,829,625...64,877,574
Ensembl chr 7:64,829,228...64,877,195 		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:25741868 PMID:28492532 PMID:32313153 PMID:34115842 PMID:34140661 NCBI chr 9:6,836,367...7,089,896
Ensembl chr 9:6,836,390...6,981,892 		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: CXCR4-related condition | 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 chr15:15,663,652...15,666,706
Ensembl chr15:15,663,494...15,667,232 		JBrowse link
G DARS1 aspartyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Warts, hypogammaglobulinemia, infections, and myelokathexis ClinVar PMID:28492532 NCBI chr15:15,810,497...15,885,706
Ensembl chr15:15,810,618...15,885,706 		JBrowse link
G LOC100625897 lactase-phlorizin hydrolase ISO ClinVar Annotator: match by term: Warts, hypogammaglobulinemia, infections, and myelokathexis ClinVar PMID:28492532 NCBI chr15:16,094,277...16,154,467 JBrowse link
G MCM6 minichromosome maintenance complex component 6 ISO ClinVar Annotator: match by term: Warts, hypogammaglobulinemia, infections, and myelokathexis ClinVar PMID:28492532 NCBI chr15:15,923,638...15,978,587
Ensembl chr15:15,923,681...15,985,405 		JBrowse link
G MIR128-1 microRNA mir-128-1 ISO ClinVar Annotator: match by term: Warts, hypogammaglobulinemia, infections, and myelokathexis ClinVar PMID:28492532 NCBI chr15:16,273,557...16,273,638
Ensembl chr15:16,273,551...16,273,659 		JBrowse link
G R3HDM1 R3H domain containing 1 ISO ClinVar Annotator: match by term: Warts, hypogammaglobulinemia, infections, and myelokathexis ClinVar PMID:28492532 NCBI chr15:16,230,961...16,414,358
Ensembl chr15:16,230,922...16,413,990 		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 chr15:16,756,368...16,893,148
Ensembl chr15:16,763,990...16,816,754 		JBrowse link
G UBXN4 UBX domain protein 4 ISO ClinVar Annotator: match by term: Warts, hypogammaglobulinemia, infections, and myelokathexis ClinVar PMID:28492532 NCBI chr15:16,162,115...16,206,511
Ensembl chr15:16,160,304...16,206,329 		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 chr15:16,414,291...16,727,659
Ensembl chr15:16,414,757...16,727,841 		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: CXCR2-related condition | ClinVar Annotator: match by term: WHIM syndrome 2 OMIM
ClinVar		 PMID:24777453 PMID:25741868 PMID:28492532 NCBI chr15:120,219,657...120,230,203 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:12200364 PMID:14691578 PMID:15895080 PMID:16783379 More... NCBI chr  X:42,898,431...42,905,939
Ensembl chr  X:42,898,442...42,905,976 		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:43,885,584...43,895,142
Ensembl chr  X:43,885,394...43,895,981 		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:42,078,202...42,090,250
Ensembl chr  X:42,078,206...42,090,250 		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:44,613,122...44,620,575
Ensembl chr  X:44,613,122...44,620,575 		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:43,250,449...43,284,458
Ensembl chr  X:43,251,370...43,283,990 		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:43,128,938...43,146,777
Ensembl chr  X:43,134,275...43,146,775 		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:43,285,232...43,303,865
Ensembl chr  X:43,285,246...43,303,864 		JBrowse link
G CCNB3 cyclin B3 ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:28492532 NCBI chr  X:43,922,729...43,988,939
Ensembl chr  X:43,922,804...43,990,929 		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:41,836,268...41,848,580
Ensembl chr  X:41,835,987...41,848,574 		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:42,145,754...42,152,879
Ensembl chr  X:42,143,697...42,152,868 		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:42,157,980...42,174,964
Ensembl chr  X:42,157,988...42,174,951 		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:43,779,016...43,809,472
Ensembl chr  X:43,613,628...43,811,526 		JBrowse link
G DGKK diacylglycerol kinase kappa ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:28492532 NCBI chr  X:44,001,172...44,180,142
Ensembl chr  X:44,001,176...44,180,179 		JBrowse link
G EBP EBP cholestenol delta-isomerase ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:8530058 PMID:9476131 PMID:10698340 PMID:10909851 PMID:12969986 More... NCBI chr  X:42,670,592...42,678,571
Ensembl chr  X:42,670,633...42,678,570 		JBrowse link
G ELANE elastase, neutrophil expressed ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:24033266 NCBI chr 2:77,513,769...77,516,118
Ensembl chr 2:77,509,344...77,516,027 		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:42,942,033...42,946,715
Ensembl chr  X:42,941,664...42,946,524 		JBrowse link
G FOXP3 forkhead box P3 ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:28492532 NCBI chr  X:43,303,777...43,328,164
Ensembl chr  X:43,303,785...43,322,968 		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:42,609,560...42,620,198
Ensembl chr  X:42,609,771...42,620,284 		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:42,898,431...42,905,939
Ensembl chr  X:42,898,442...42,905,976 		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:42,877,034...42,889,285
Ensembl chr  X:42,877,140...42,889,271 		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:43,177,264...43,192,021
Ensembl chr  X:43,177,272...43,191,830 		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:43,043,613...43,070,363
Ensembl chr  X:43,043,029...43,070,364 		JBrowse link
G HDAC6 histone deacetylase 6 ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:28492532 NCBI chr  X:42,917,911...42,941,894
Ensembl chr  X:42,917,964...42,941,887 		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:41,579,565...41,714,705
Ensembl chr  X:41,579,764...41,714,706 		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:43,032,355...43,043,310
Ensembl chr  X:43,032,358...43,041,760 		JBrowse link
G LOC100513450 P antigen family member 4 ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:28492532 NCBI chr  X:43,489,559...43,496,654
Ensembl chr  X:43,446,109...43,494,094 		JBrowse link
G MAGIX MAGI family member, X-linked ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:28492532 NCBI chr  X:43,206,680...43,212,889
Ensembl chr  X:43,207,062...43,211,635 		JBrowse link
G MIR532 microRNA mir-532 ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:28492532 NCBI chr  X:43,705,258...43,705,337
Ensembl chr  X:43,705,258...43,705,337 		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:41,770,929...41,773,879
Ensembl chr  X:41,770,941...41,774,245 		JBrowse link
G NUDT11 nudix hydrolase 11 ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:28492532 NCBI chr  X:44,912,160...44,918,977 JBrowse link
G OTUD5 OTU deubiquitinase 5 ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:28492532 NCBI chr  X:43,001,491...43,029,471
Ensembl chr  X:43,000,231...43,029,468 		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:42,947,688...42,952,222
Ensembl chr  X:42,947,692...42,949,024 		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:42,993,547...42,998,575
Ensembl chr  X:42,993,551...42,998,573 		JBrowse link
G PLP2 proteolipid protein 2 ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:28492532 NCBI chr  X:43,215,372...43,218,318
Ensembl chr  X:43,215,283...43,218,316 		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:42,653,696...42,669,526
Ensembl chr  X:42,653,789...42,669,517 		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:43,328,199...43,344,503
Ensembl chr  X:43,328,274...43,344,013 		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:42,976,086...42,981,732
Ensembl chr  X:42,975,413...42,981,724 		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:43,147,473...43,150,350 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:43,218,271...43,230,368
Ensembl chr  X:43,218,277...43,230,367 		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:41,773,232...41,803,656
Ensembl chr  X:41,773,232...41,803,653 		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:42,704,019...42,707,587
Ensembl chr  X:42,704,028...42,707,577 		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:41,725,660...41,749,736
Ensembl chr  X:41,726,526...41,749,381 		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:41,488,866...41,534,810
Ensembl chr  X:41,488,626...41,534,799 		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:44,301,956...44,543,969
Ensembl chr  X:44,332,620...44,543,337 		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:42,981,801...42,992,091
Ensembl chr  X:42,981,802...42,992,081 		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:42,590,608...42,601,537
Ensembl chr  X:42,590,607...42,601,502 		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:41,233,308...41,399,032
Ensembl chr  X:41,236,246...41,398,999 		JBrowse link
G SPACA5 sperm acrosome associated 5 ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:8530058 PMID:9476131 PMID:10698340 PMID:10909851 PMID:12969986 More... NCBI chr  X:42,476,719...42,478,783
Ensembl chr  X:42,476,587...42,478,921 		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:42,797,309...42,811,457
Ensembl chr  X:42,797,828...42,811,461 		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:42,090,245...42,142,254
Ensembl chr  X:42,090,246...42,142,224 		JBrowse link
G SYP synaptophysin ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:28492532 NCBI chr  X:43,232,190...43,246,764
Ensembl chr  X:43,232,192...43,246,680 		JBrowse link
G TBC1D25 TBC1 domain family member 25 ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:8530058 PMID:9476131 PMID:10698340 PMID:10909851 PMID:12969986 More... NCBI chr  X:42,682,267...42,696,579
Ensembl chr  X:42,682,269...42,696,574 		JBrowse link
G TFE3 transcription factor binding to IGHM enhancer 3 ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:28492532 NCBI chr  X:43,100,375...43,116,377
Ensembl chr  X:43,100,032...43,116,227 		JBrowse link
G TIMM17B translocase of inner mitochondrial membrane 17B ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:28492532 NCBI chr  X:42,970,586...42,976,287
Ensembl chr  X:42,970,108...42,975,955 		JBrowse link
G TIMP1 TIMP metallopeptidase inhibitor 1 ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:8530058 PMID:9476131 PMID:10698340 PMID:10909851 PMID:12969986 More... NCBI chr  X:42,103,251...42,106,289
Ensembl chr  X:42,102,172...42,106,296 		JBrowse link
G UBA1 ubiquitin like modifier activating enzyme 1 ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:8530058 PMID:9476131 PMID:10698340 PMID:10909851 PMID:12969986 More... NCBI chr  X:41,810,726...41,832,818
Ensembl chr  X:41,814,101...41,832,812 		JBrowse link
G USP11 ubiquitin specific peptidase 11 ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:8530058 PMID:9476131 PMID:10698340 PMID:10909851 PMID:12969986 More... NCBI chr  X:41,851,534...41,866,357
Ensembl chr  X:41,851,602...41,866,355 		JBrowse link
G USP27X ubiquitin specific peptidase 27 X-linked ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:28492532 NCBI chr  X:43,553,454...43,557,247
Ensembl chr  X:43,555,005...43,556,321 		JBrowse link
G UXT ubiquitously expressed prefoldin like chaperone ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:8530058 PMID:9476131 PMID:10698340 PMID:10909851 PMID:12969986 More... NCBI chr  X:42,176,142...42,184,131
Ensembl chr  X:42,176,145...42,184,079 		JBrowse link
G WAS WASP actin nucleation promoting factor ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia OMIM
ClinVar		 PMID:3284030 PMID:7579329 PMID:7579347 PMID:7753869 PMID:7795648 More... NCBI chr  X:42,774,597...42,793,055
Ensembl chr  X:42,774,588...42,793,055 		JBrowse link
G WDR13 WD repeat domain 13 ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:8530058 PMID:9476131 PMID:10698340 PMID:10909851 PMID:12969986 More... NCBI chr  X:42,715,097...42,730,200
Ensembl chr  X:42,722,730...42,730,199 		JBrowse link
G WDR45 WD repeat domain 45 ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:28492532 NCBI chr  X:43,150,691...43,155,981
Ensembl chr  X:43,147,477...43,156,234 		JBrowse link
G ZNF157 zinc finger protein 157 ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:8530058 PMID:9476131 PMID:10698340 PMID:10909851 PMID:12969986 More... NCBI chr  X:41,905,319...41,921,484
Ensembl chr  X:41,905,226...41,920,880 		JBrowse link
G ZNF182 zinc finger protein 182 ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:8530058 PMID:9476131 PMID:10698340 PMID:10909851 PMID:12969986 More... NCBI chr  X:42,444,227...42,473,308
Ensembl chr  X:42,444,230...42,473,285 		JBrowse link
G ZNF41 zinc finger protein 41 ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:8530058 PMID:9476131 PMID:10698340 PMID:10909851 PMID:12969986 More... NCBI chr  X:41,931,036...41,984,439
Ensembl chr  X:41,934,977...41,984,595 		JBrowse link
G ZNF630 zinc finger protein 630 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:42,518,203...42,540,677
Ensembl chr  X:42,518,211...42,540,232 		JBrowse link
G ZNF81 zinc finger protein 81 ISO ClinVar Annotator: match by term: X-linked severe congenital neutropenia ClinVar PMID:8530058 PMID:9476131 PMID:10698340 PMID:10909851 PMID:12969986 More... NCBI chr  X:42,246,548...42,372,191
Ensembl chr  X:42,246,751...42,468,024 		JBrowse link
XEROSIS AND GROWTH FAILURE WITH IMMUNE AND PULMONARY DYSFUNCTION SYNDROME term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DBR1 debranching RNA lariats 1 ISO ClinVar Annotator: match by term: Xerosis and growth failure with immune and pulmonary dysfunction syndrome ClinVar
OMIM		 PMID:25741868 PMID:37656279 NCBI chr13:78,958,301...78,970,250
Ensembl chr13:78,958,218...78,970,137 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15274
    disease of anatomical entity 14908
      hematopoietic system disease 3136
        leukocyte disease 1230
          leukopenia 509
            agranulocytosis 473
              neutropenia 470
                3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia + 52
                Charcot-Marie-Tooth Neuropathy, Dominant Intermediate B, with Neutropenia 0
                Drug-induced Neutropenia + 19
                Febrile Neutropenia + 9
                Lazy Leukocyte Syndrome 1
                Lethal Congenital Neutropenia with Eosinophilia 0
                Lichtenstein Syndrome 0
                Nonimmune Chronic Idiopathic Neutropenia, Adult 2
                Onychotrichodysplasia and Neutropenia 0
                Severe Chronic Neutropenia 1
                WHIM Syndrome + 10
                X-linked dyserythropoietic anemia 1
                XEROSIS AND GROWTH FAILURE WITH IMMUNE AND PULMONARY DYSFUNCTION SYNDROME 1
                cyclic hematopoiesis 63
                poikiloderma with neutropenia 1
                severe congenital neutropenia + 286
                transient neonatal neutropenia + 0
Path 2
Term Annotations click to browse term
  disease 15274
    disease of anatomical entity 14908
      Hemic and Lymphatic Diseases 3613
        hematopoietic system disease 3136
          leukocyte disease 1230
            leukopenia 509
              agranulocytosis 473
                neutropenia 470
                  3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia + 52
                  Charcot-Marie-Tooth Neuropathy, Dominant Intermediate B, with Neutropenia 0
                  Drug-induced Neutropenia + 19
                  Febrile Neutropenia + 9
                  Lazy Leukocyte Syndrome 1
                  Lethal Congenital Neutropenia with Eosinophilia 0
                  Lichtenstein Syndrome 0
                  Nonimmune Chronic Idiopathic Neutropenia, Adult 2
                  Onychotrichodysplasia and Neutropenia 0
                  Severe Chronic Neutropenia 1
                  WHIM Syndrome + 10
                  X-linked dyserythropoietic anemia 1
                  XEROSIS AND GROWTH FAILURE WITH IMMUNE AND PULMONARY DYSFUNCTION SYNDROME 1
                  cyclic hematopoiesis 63
                  poikiloderma with neutropenia 1
                  severe congenital neutropenia + 286
                  transient neonatal neutropenia + 0
paths to the root